Shank1 Variant Search Result - Rat Genome Database

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Variants search result for Homo sapiens
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463 records found for search term Shank1

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
405284241	CV3196668	single nucleotide variant	NM_016148.5(SHANK1):c.532-3C>T	SHANK1-related disorder [RCV003979574]	benign	19	50714293	50714293	Human		name , trait , alternate_id
15163075	CV778666	single nucleotide variant	NM_016148.5(SHANK1):c.793-8G>A	not provided [RCV000947997]	benign	19	50712122	50712122	Human		name
155992622	CV2095566	single nucleotide variant	NM_016148.5(SHANK1):c.5768+2T>G	not provided [RCV002908235]	uncertain significance	19	50666190	50666190	Human		name
155961476	CV2285535	single nucleotide variant	NM_016148.5(SHANK1):c.1223-3C>T	Inborn genetic diseases [RCV002841363]	uncertain significance	19	50703833	50703833	Human	1	name
401910715	CV2818687	single nucleotide variant	NM_016148.5(SHANK1):c.2048-8G>T	not provided [RCV003425384]	benign	19	50688976	50688976	Human		name
405292049	CV3217008	single nucleotide variant	NM_016148.5(SHANK1):c.2308+8T>C	SHANK1-related disorder [RCV003964322]	benign	19	50687915	50687915	Human		name , trait , alternate_id
13534965	CV507563	single nucleotide variant	NM_016148.5(SHANK1):c.1938-5G>A	not specified [RCV000602062]	likely benign	19	50697127	50697127	Human		name
15171385	CV745293	single nucleotide variant	NM_016148.5(SHANK1):c.1938-5G>T	not provided [RCV000905457]	benign	19	50697127	50697127	Human		name
15176569	CV778565	single nucleotide variant	NM_016148.5(SHANK1):c.1554-4G>A	not provided [RCV000950854]	benign	19	50702664	50702664	Human		name
15194844	CV778664	single nucleotide variant	NM_016148.5(SHANK1):c.1861+7C>T	not provided [RCV000955756]	likely benign	19	50697836	50697836	Human		name
401929134	CV2818688	single nucleotide variant	NM_016148.5(SHANK1):c.1965-81G>A	not provided [RCV003407088]	benign	19	50689360	50689360	Human		name
616934117	CV4012117	duplication	NM_016148.5(SHANK1):c.1862-16dup	not specified [RCV005409151]	likely benign	19	50697679	50697680	Human		name
15143757	CV758733	single nucleotide variant	NM_016148.5(SHANK1):c.15C>T (p.Pro5=)	not provided [RCV000922246]	likely benign	19	50716905	50716905	Human		name
405294363	CV3214855	single nucleotide variant	NM_016148.5(SHANK1):c.69C>T (p.Gly23=)	SHANK1-related disorder [RCV003934264]	likely benign	19	50716851	50716851	Human		name , trait , alternate_id
156344351	CV2364266	single nucleotide variant	NM_016148.5(SHANK1):c.16G>A (p.Ala6Thr)	Inborn genetic diseases [RCV002674834]	likely benign	19	50716904	50716904	Human	1	name
15180280	CV774318	single nucleotide variant	NM_016148.5(SHANK1):c.144T>C (p.Pro48=)	not provided [RCV000929845]	likely benign	19	50716776	50716776	Human		name
15180871	CV774319	single nucleotide variant	NM_016148.5(SHANK1):c.189C>T (p.Ser63=)	not provided [RCV000929991]	likely benign	19	50716731	50716731	Human		name
401771335	CV2711619	single nucleotide variant	NM_016148.5(SHANK1):c.52G>C (p.Glu18Gln)	Inborn genetic diseases [RCV003261429]	uncertain significance	19	50716868	50716868	Human	1	name
401863438	CV2765796	single nucleotide variant	NM_016148.5(SHANK1):c.92A>G (p.Asp31Gly)	Inborn genetic diseases [RCV003358944]	uncertain significance	19	50716828	50716828	Human	1	name
401860845	CV2772270	single nucleotide variant	NM_016148.5(SHANK1):c.44G>C (p.Ser15Thr)	Inborn genetic diseases [RCV003357565]	uncertain significance	19	50716876	50716876	Human	1	name
405289399	CV3205101	single nucleotide variant	NM_016148.5(SHANK1):c.705G>C (p.Leu235=)	SHANK1-related disorder [RCV003961710]	likely benign	19	50713885	50713885	Human		name , trait , alternate_id
405294797	CV3209193	single nucleotide variant	NM_016148.5(SHANK1):c.762C>T (p.Ala254=)	SHANK1-related disorder [RCV003934749]	likely benign	19	50713828	50713828	Human		name , trait , alternate_id
405291435	CV3219179	single nucleotide variant	NM_016148.5(SHANK1):c.330C>T (p.Ser110=)	SHANK1-related disorder [RCV003963832]	likely benign	19	50716404	50716404	Human		name , trait , alternate_id
407469375	CV3480413	single nucleotide variant	NM_016148.5(SHANK1):c.68G>A (p.Gly23Asp)	Inborn genetic diseases [RCV004661457]	uncertain significance	19	50716852	50716852	Human	1	name
407519127	CV3480420	single nucleotide variant	NM_016148.5(SHANK1):c.40C>T (p.His14Tyr)	Inborn genetic diseases [RCV004676351]	uncertain significance	19	50716880	50716880	Human	1	name
597656827	CV3731614	single nucleotide variant	NM_016148.5(SHANK1):c.65G>T (p.Gly22Val)	not provided [RCV005001795]	uncertain significance	19	50716855	50716855	Human		name
598125101	CV3885586	single nucleotide variant	NM_016148.5(SHANK1):c.537G>A (p.Gly179=)	not specified [RCV005240164]	likely benign	19	50714285	50714285	Human		name
598160058	CV3897212	single nucleotide variant	NM_016148.5(SHANK1):c.94G>T (p.Gly32Trp)	not provided [RCV005368186]	uncertain significance	19	50716826	50716826	Human		name
15101842	CV729827	single nucleotide variant	NM_016148.5(SHANK1):c.669C>T (p.Thr223=)	SHANK1-related disorder [RCV003930822]\|not provided [RCV000892361]	benign	19	50713921	50713921	Human		name , trait , alternate_id
15162580	CV743562	single nucleotide variant	NM_016148.5(SHANK1):c.582G>A (p.Lys194=)	not provided [RCV000903582]	benign	19	50714240	50714240	Human		name
15192390	CV743563	single nucleotide variant	NM_016148.5(SHANK1):c.999G>C (p.Leu333=)	not provided [RCV000910527]	likely benign	19	50711449	50711449	Human		name
15154011	CV758724	single nucleotide variant	NM_016148.5(SHANK1):c.795G>A (p.Ala265=)	not provided [RCV000924173]	benign\|likely benign	19	50712112	50712112	Human		name
15125059	CV758725	single nucleotide variant	NM_016148.5(SHANK1):c.816C>T (p.Ser272=)	not provided [RCV000919087]	likely benign	19	50712091	50712091	Human		name
15150356	CV758726	single nucleotide variant	NM_016148.5(SHANK1):c.939C>T (p.Asn313=)	not provided [RCV000923459]	likely benign	19	50711968	50711968	Human		name
150507753	CV1244645	single nucleotide variant	NM_016148.5(SHANK1):c.122G>A (p.Arg41Gln)	not provided [RCV001658894]	uncertain significance	19	50716798	50716798	Human		name
155266871	CV1696401	single nucleotide variant	NM_016148.5(SHANK1):c.158C>T (p.Ser53Phe)	not provided [RCV002281259]	uncertain significance	19	50716762	50716762	Human		name
155925548	CV2211858	single nucleotide variant	NM_016148.5(SHANK1):c.199G>A (p.Asp67Asn)	Inborn genetic diseases [RCV002683453]	uncertain significance	19	50716721	50716721	Human	1	name
156266178	CV2329586	single nucleotide variant	NM_016148.5(SHANK1):c.134G>T (p.Ser45Ile)	Inborn genetic diseases [RCV002960057]	uncertain significance	19	50716786	50716786	Human	1	name
401910716	CV2818689	single nucleotide variant	NM_016148.5(SHANK1):c.1296G>A (p.Pro432=)	not provided [RCV003425385]	likely benign	19	50703757	50703757	Human		name
404993530	CV2850999	single nucleotide variant	NM_016148.5(SHANK1):c.101G>A (p.Gly34Asp)	not provided [RCV003491474]	uncertain significance	19	50716819	50716819	Human		name
405286205	CV3192724	single nucleotide variant	NM_016148.5(SHANK1):c.2397G>A (p.Glu799=)	SHANK1-related disorder [RCV003981478]	likely benign	19	50686805	50686805	Human		name , trait , alternate_id
405269128	CV3199175	single nucleotide variant	NM_016148.5(SHANK1):c.1371G>A (p.Ala457=)	SHANK1-related disorder [RCV003912276]	likely benign	19	50703682	50703682	Human		name , trait , alternate_id
405289353	CV3205078	single nucleotide variant	NM_016148.5(SHANK1):c.1338C>A (p.Pro446=)	SHANK1-related disorder [RCV003961689]	likely benign	19	50703715	50703715	Human		name , trait , alternate_id
405290067	CV3205959	single nucleotide variant	NM_016148.5(SHANK1):c.2391G>A (p.Glu797=)	SHANK1-related disorder [RCV003962123]	benign	19	50686811	50686811	Human		name , trait , alternate_id
405271079	CV3209287	single nucleotide variant	NM_016148.5(SHANK1):c.2280G>A (p.Pro760=)	SHANK1-related disorder [RCV003949640]	likely benign	19	50687951	50687951	Human		name , trait , alternate_id
405294225	CV3214667	single nucleotide variant	NM_016148.5(SHANK1):c.1416G>A (p.Ser472=)	SHANK1-related disorder [RCV003934107]	likely benign	19	50703637	50703637	Human		name , trait , alternate_id
405294641	CV3215506	single nucleotide variant	NM_016148.5(SHANK1):c.2877T>C (p.Gly959=)	SHANK1-related disorder [RCV003934591]	likely benign	19	50669083	50669083	Human		name , trait , alternate_id
405265968	CV3215775	single nucleotide variant	NM_016148.5(SHANK1):c.1524C>T (p.Asp508=)	SHANK1-related disorder [RCV003946931]	likely benign	19	50703529	50703529	Human		name , trait , alternate_id
405729808	CV3318215	single nucleotide variant	NM_016148.5(SHANK1):c.214A>G (p.Met72Val)	Inborn genetic diseases [RCV004450857]	uncertain significance	19	50716706	50716706	Human	1	name
408387608	CV3518906	single nucleotide variant	NM_016148.5(SHANK1):c.239C>T (p.Pro80Leu)	not provided [RCV004761225]	uncertain significance	19	50716681	50716681	Human		name
597708510	CV3602371	single nucleotide variant	NM_016148.5(SHANK1):c.293C>T (p.Thr98Met)	Inborn genetic diseases [RCV004957714]	likely benign	19	50716441	50716441	Human	1	name
616938589	CV4015057	single nucleotide variant	NM_016148.5(SHANK1):c.266G>A (p.Arg89His)	not provided [RCV005412074]	uncertain significance	19	50716468	50716468	Human		name
15202662	CV706438	single nucleotide variant	NM_016148.5(SHANK1):c.1207C>A (p.Arg403=)	SHANK1-related disorder [RCV003903315]\|not provided [RCV000957988]	benign\|likely benign	19	50704135	50704135	Human		name , trait , alternate_id
15123136	CV717970	single nucleotide variant	NM_016148.5(SHANK1):c.1665C>T (p.Pro555=)	not provided [RCV000963187]	benign	19	50702549	50702549	Human		name
15106987	CV717971	single nucleotide variant	NM_016148.5(SHANK1):c.1993T>C (p.Leu665=)	not provided [RCV000960194]	benign	19	50689251	50689251	Human		name
15174552	CV729828	single nucleotide variant	NM_016148.5(SHANK1):c.1890C>T (p.Leu630=)	not provided [RCV000884156]	benign	19	50697636	50697636	Human		name
15173933	CV743564	single nucleotide variant	NM_016148.5(SHANK1):c.1611C>T (p.Pro537=)	not provided [RCV000905913]	likely benign	19	50702603	50702603	Human		name
15158214	CV743565	single nucleotide variant	NM_016148.5(SHANK1):c.2112G>C (p.Ser704=)	not provided [RCV000902688]	benign	19	50688904	50688904	Human		name
15203067	CV758727	single nucleotide variant	NM_016148.5(SHANK1):c.1008C>T (p.Tyr336=)	not provided [RCV000913701]	benign	19	50711440	50711440	Human		name
15170038	CV758728	single nucleotide variant	NM_016148.5(SHANK1):c.1356C>T (p.Ser452=)	not provided [RCV000927619]	likely benign	19	50703697	50703697	Human		name
15152951	CV758729	single nucleotide variant	NM_016148.5(SHANK1):c.1368C>T (p.Ala456=)	not provided [RCV000923971]	likely benign	19	50703685	50703685	Human		name
15129053	CV758730	single nucleotide variant	NM_016148.5(SHANK1):c.2028C>T (p.Phe676=)	not provided [RCV000919760]	likely benign	19	50689216	50689216	Human		name
15116304	CV758731	single nucleotide variant	NM_016148.5(SHANK1):c.2112G>A (p.Ser704=)	not provided [RCV000917603]	likely benign	19	50688904	50688904	Human		name
15105163	CV774316	single nucleotide variant	NM_016148.5(SHANK1):c.2040G>A (p.Gly680=)	not provided [RCV000937532]	likely benign	19	50689204	50689204	Human		name
15186222	CV786957	single nucleotide variant	NM_016148.5(SHANK1):c.1203C>T (p.Asn401=)	not provided [RCV000981218]	likely benign	19	50704139	50704139	Human		name
15186110	CV786958	single nucleotide variant	NM_016148.5(SHANK1):c.2409G>A (p.Ala803=)	not provided [RCV000980630]	likely benign	19	50686793	50686793	Human		name
8636945	CV92170	single nucleotide variant	NM_016148.2(SHANK1):c.1653C>T (p.Tyr551=)	Malignant melanoma [RCV000072268]	not provided	19	50702561	50702561	Human		name
8636946	CV92171	single nucleotide variant	NM_016148.2(SHANK1):c.103C>T (p.Arg35Ter)	Malignant melanoma [RCV000072269]	not provided	19	50716817	50716817	Human		name
156187868	CV1919419	single nucleotide variant	NM_016148.5(SHANK1):c.370A>T (p.Thr124Ser)	Inborn genetic diseases [RCV004961083]\|not provided [RCV002595275]	uncertain significance	19	50716364	50716364	Human	1	name
329390779	CV2437257	single nucleotide variant	NM_016148.5(SHANK1):c.812G>C (p.Gly271Ala)	Inborn genetic diseases [RCV003191778]	uncertain significance	19	50712095	50712095	Human	1	name
329350882	CV2477712	single nucleotide variant	NM_016148.5(SHANK1):c.466T>C (p.Tyr156His)	not provided [RCV003223824]	uncertain significance	19	50715724	50715724	Human		name
329847065	CV2534268	single nucleotide variant	NM_016148.5(SHANK1):c.892G>A (p.Glu298Lys)	not provided [RCV003228477]	uncertain significance	19	50712015	50712015	Human		name
329952798	CV2670147	single nucleotide variant	NM_016148.5(SHANK1):c.733C>T (p.Arg245Trp)	SHANK1-related autism [RCV003233357]	likely pathogenic	19	50713857	50713857	Human		name , trait
401731418	CV2701356	single nucleotide variant	NM_016148.5(SHANK1):c.325G>A (p.Glu109Lys)	Inborn genetic diseases [RCV003271723]	uncertain significance	19	50716409	50716409	Human	1	name
401725951	CV2736010	single nucleotide variant	NM_016148.5(SHANK1):c.428A>C (p.Gln143Pro)	not provided [RCV003312455]	uncertain significance	19	50716306	50716306	Human		name
401897390	CV2786970	single nucleotide variant	NM_016148.5(SHANK1):c.670G>A (p.Glu224Lys)	Inborn genetic diseases [RCV003375011]	uncertain significance	19	50713920	50713920	Human	1	name
401920406	CV2797607	single nucleotide variant	NM_016148.5(SHANK1):c.589C>T (p.Arg197Trp)	SHANK1-related disorder [RCV003402626]	uncertain significance	19	50714233	50714233	Human		name , trait , alternate_id
401910712	CV2818682	single nucleotide variant	NM_016148.5(SHANK1):c.5088G>T (p.Thr1696=)	not provided [RCV003425381]	likely benign	19	50666872	50666872	Human		name
401910713	CV2818683	single nucleotide variant	NM_016148.5(SHANK1):c.4443C>T (p.Ala1481=)	not provided [RCV003425382]	benign	19	50667517	50667517	Human		name
401910714	CV2818684	single nucleotide variant	NM_016148.5(SHANK1):c.4296C>A (p.Ser1432=)	not provided [RCV003425383]	likely benign	19	50667664	50667664	Human		name
401937383	CV2818685	single nucleotide variant	NM_016148.5(SHANK1):c.3027G>C (p.Pro1009=)	not provided [RCV003415393]	likely benign	19	50668933	50668933	Human		name
405280822	CV3190588	single nucleotide variant	NM_016148.5(SHANK1):c.5427A>T (p.Ala1809=)	SHANK1-related disorder [RCV003907026]	likely benign	19	50666533	50666533	Human		name , trait , alternate_id
405289244	CV3205065	single nucleotide variant	NM_016148.5(SHANK1):c.4899C>T (p.Thr1633=)	SHANK1-related disorder [RCV003961677]	likely benign	19	50667061	50667061	Human		name , trait , alternate_id
405271099	CV3209298	single nucleotide variant	NM_016148.5(SHANK1):c.5889T>C (p.Ala1963=)	SHANK1-related disorder [RCV003949650]	likely benign	19	50662562	50662562	Human		name , trait , alternate_id
405295124	CV3210980	single nucleotide variant	NM_016148.5(SHANK1):c.3405G>T (p.Pro1135=)	SHANK1-related disorder [RCV003936987]	likely benign	19	50668555	50668555	Human		name , trait , alternate_id
405270648	CV3211999	single nucleotide variant	NM_016148.5(SHANK1):c.6156A>G (p.Pro2052=)	SHANK1-related disorder [RCV003949394]	likely benign	19	50662295	50662295	Human		name , trait , alternate_id
405294388	CV3214890	single nucleotide variant	NM_016148.5(SHANK1):c.3870G>A (p.Glu1290=)	SHANK1-related disorder [RCV003934290]	likely benign	19	50668090	50668090	Human		name , trait , alternate_id
405294920	CV3214954	single nucleotide variant	NM_016148.5(SHANK1):c.6420A>G (p.Leu2140=)	SHANK1-related disorder [RCV003936812]	likely benign	19	50662031	50662031	Human		name , trait , alternate_id
405258813	CV3215155	single nucleotide variant	NM_016148.5(SHANK1):c.6267G>A (p.Pro2089=)	SHANK1-related disorder [RCV003942202]	likely benign	19	50662184	50662184	Human		name , trait , alternate_id
405287430	CV3217743	single nucleotide variant	NM_016148.5(SHANK1):c.3360C>T (p.Pro1120=)	SHANK1-related disorder [RCV003981866]	benign	19	50668600	50668600	Human		name , trait , alternate_id
405266098	CV3221043	single nucleotide variant	NM_016148.5(SHANK1):c.6249G>A (p.Ser2083=)	SHANK1-related disorder [RCV003969175]	likely benign	19	50662202	50662202	Human		name , trait , alternate_id
405695735	CV3226669	single nucleotide variant	NM_016148.5(SHANK1):c.3564G>C (p.Thr1188=)	not provided [RCV003993062]	likely benign	19	50668396	50668396	Human		name
405729844	CV3314277	single nucleotide variant	NM_016148.5(SHANK1):c.370A>G (p.Thr124Ala)	Inborn genetic diseases [RCV004450862]	uncertain significance	19	50716364	50716364	Human	1	name
405729971	CV3314294	single nucleotide variant	NM_016148.5(SHANK1):c.794C>T (p.Ala265Val)	Inborn genetic diseases [RCV004450879]	uncertain significance	19	50712113	50712113	Human	1	name
407493126	CV3480423	single nucleotide variant	NM_016148.5(SHANK1):c.384T>G (p.Asp128Glu)	Inborn genetic diseases [RCV004667300]	uncertain significance	19	50716350	50716350	Human	1	name
408387999	CV3520588	single nucleotide variant	NM_016148.5(SHANK1):c.619T>G (p.Tyr207Asp)	not provided [RCV004761420]	uncertain significance	19	50714203	50714203	Human		name
408388654	CV3529078	single nucleotide variant	NM_016148.5(SHANK1):c.880C>A (p.Pro294Thr)	not provided [RCV004773900]	uncertain significance	19	50712027	50712027	Human		name
596929590	CV3531092	single nucleotide variant	NM_016148.5(SHANK1):c.896T>C (p.Leu299Pro)	not provided [RCV004779666]	uncertain significance	19	50712011	50712011	Human		name
597708576	CV3602386	single nucleotide variant	NM_016148.5(SHANK1):c.574T>C (p.Ser192Pro)	Inborn genetic diseases [RCV004957724]	uncertain significance	19	50714248	50714248	Human	1	name
597708654	CV3602409	single nucleotide variant	NM_016148.5(SHANK1):c.425C>T (p.Pro142Leu)	Inborn genetic diseases [RCV004957737]	uncertain significance	19	50716309	50716309	Human	1	name
597708665	CV3602412	single nucleotide variant	NM_016148.5(SHANK1):c.568G>A (p.Gly190Arg)	Inborn genetic diseases [RCV004957739]	uncertain significance	19	50714254	50714254	Human	1	name
597718838	CV3733453	single nucleotide variant	NM_016148.5(SHANK1):c.686T>G (p.Val229Gly)	not provided [RCV005052643]	uncertain significance	19	50713904	50713904	Human		name
15099540	CV706439	single nucleotide variant	NM_016148.5(SHANK1):c.5790C>T (p.Ser1930=)	not provided [RCV000958777]	likely benign	19	50662661	50662661	Human		name
15185812	CV706440	single nucleotide variant	NM_016148.5(SHANK1):c.6075C>T (p.Ser2025=)	not provided [RCV000953095]	likely benign	19	50662376	50662376	Human		name
15178806	CV717974	single nucleotide variant	NM_016148.5(SHANK1):c.4902G>A (p.Leu1634=)	not provided [RCV000973754]	likely benign	19	50667058	50667058	Human		name
15178204	CV717975	single nucleotide variant	NM_016148.5(SHANK1):c.5070C>T (p.Thr1690=)	not provided [RCV000973609]	benign	19	50666890	50666890	Human		name
15126334	CV717976	single nucleotide variant	NM_016148.5(SHANK1):c.6288G>A (p.Gly2096=)	not provided [RCV000963726]	benign	19	50662163	50662163	Human		name
15201872	CV729829	single nucleotide variant	NM_016148.5(SHANK1):c.3411C>G (p.Ser1137=)	not provided [RCV000891317]	likely benign	19	50668549	50668549	Human		name
15158032	CV729830	single nucleotide variant	NM_016148.5(SHANK1):c.4650C>T (p.Pro1550=)	not provided [RCV000880931]	benign	19	50667310	50667310	Human		name
15157966	CV729831	single nucleotide variant	NM_016148.5(SHANK1):c.5133G>T (p.Gly1711=)	not provided [RCV000880918]	benign	19	50666827	50666827	Human		name
15152087	CV729833	single nucleotide variant	NM_016148.5(SHANK1):c.6411C>T (p.Tyr2137=)	SHANK1-related disorder [RCV003930486]\|not provided [RCV000879735]	likely benign	19	50662040	50662040	Human		name , trait , alternate_id
15127004	CV743566	single nucleotide variant	NM_016148.5(SHANK1):c.4479G>A (p.Arg1493=)	not provided [RCV000897030]	likely benign	19	50667481	50667481	Human		name
15165902	CV743567	single nucleotide variant	NM_016148.5(SHANK1):c.4755G>A (p.Thr1585=)	not provided [RCV000904325]	likely benign	19	50667205	50667205	Human		name
15140290	CV743569	single nucleotide variant	NM_016148.5(SHANK1):c.5886C>T (p.Ala1962=)	not provided [RCV000899293]	benign	19	50662565	50662565	Human		name
15126962	CV758732	single nucleotide variant	NM_016148.5(SHANK1):c.3399G>T (p.Thr1133=)	not provided [RCV000919419]	likely benign	19	50668561	50668561	Human		name
15105799	CV758734	single nucleotide variant	NM_016148.5(SHANK1):c.5445G>A (p.Pro1815=)	not provided [RCV000915619]	likely benign	19	50666515	50666515	Human		name
15151172	CV758735	single nucleotide variant	NM_016148.5(SHANK1):c.6177G>A (p.Pro2059=)	not provided [RCV000923619]	likely benign	19	50662274	50662274	Human		name
15149592	CV758736	single nucleotide variant	NM_016148.5(SHANK1):c.6228C>T (p.Leu2076=)	not provided [RCV000923314]	likely benign	19	50662223	50662223	Human		name
15105795	CV758737	single nucleotide variant	NM_016148.5(SHANK1):c.6255C>T (p.Pro2085=)	not provided [RCV000915618]	likely benign	19	50662196	50662196	Human		name
15138510	CV758738	single nucleotide variant	NM_016148.5(SHANK1):c.6438C>T (p.Gly2146=)	not provided [RCV000921346]	likely benign	19	50662013	50662013	Human		name
15194486	CV774317	single nucleotide variant	NM_016148.5(SHANK1):c.3384C>G (p.Pro1128=)	not provided [RCV000933658]	likely benign	19	50668576	50668576	Human		name
15117225	CV774320	single nucleotide variant	NM_016148.5(SHANK1):c.6087C>T (p.Tyr2029=)	not provided [RCV000939798]	likely benign	19	50662364	50662364	Human		name
15178461	CV774321	single nucleotide variant	NM_016148.5(SHANK1):c.6234G>A (p.Pro2078=)	not provided [RCV000929403]	likely benign	19	50662217	50662217	Human		name
15185099	CV786959	single nucleotide variant	NM_016148.5(SHANK1):c.4812T>A (p.Pro1604=)	not provided [RCV000975951]	likely benign	19	50667148	50667148	Human		name
15186451	CV786960	single nucleotide variant	NM_016148.5(SHANK1):c.6186C>T (p.Ser2062=)	not provided [RCV000981864]	likely benign	19	50662265	50662265	Human		name
8636943	CV92168	single nucleotide variant	NM_016148.2(SHANK1):c.6063C>T (p.Pro2021=)	Malignant melanoma [RCV000072266]	not provided	19	50662388	50662388	Human		name
150551895	CV1296296	single nucleotide variant	NM_016148.5(SHANK1):c.2551C>T (p.Arg851Ter)	not provided [RCV001767306]	uncertain significance	19	50686263	50686263	Human		name
150534356	CV1300551	single nucleotide variant	NM_016148.5(SHANK1):c.2137C>T (p.Arg713Ter)	Intellectual disability [RCV002287506]\|not provided [RCV001758679]	pathogenic\|uncertain significance	19	50688879	50688879	Human	2	name
150553584	CV1303593	single nucleotide variant	NM_016148.5(SHANK1):c.2899C>G (p.Pro967Ala)	not provided [RCV001769283]	uncertain significance	19	50669061	50669061	Human		name
152156276	CV1668503	single nucleotide variant	NM_016148.5(SHANK1):c.1198C>T (p.Arg400Ter)	not provided [RCV002222784]	pathogenic	19	50704144	50704144	Human		name
152981181	CV1676436	single nucleotide variant	NM_016148.5(SHANK1):c.2149C>T (p.Arg717Ter)	SHANK1-related Neurodevelopmental Disorder [RCV005401953]\|See cases [RCV005255495]	pathogenic\|likely pathogenic	19	50688867	50688867	Human		name , trait
153302487	CV1688273	single nucleotide variant	NM_016148.5(SHANK1):c.2765C>T (p.Pro922Leu)	not provided [RCV002265499]	uncertain significance	19	50669195	50669195	Human		name
153302097	CV1689450	single nucleotide variant	NM_016148.5(SHANK1):c.1327A>G (p.Met443Val)	not provided [RCV002267400]	uncertain significance	19	50703726	50703726	Human		name
153349022	CV1693218	deletion	NM_016148.5(SHANK1):c.5902del (p.Ala1968fs)	not provided [RCV002275405]	uncertain significance	19	50662549	50662549	Human		name
155645910	CV1709266	single nucleotide variant	NM_016148.5(SHANK1):c.2090C>T (p.Pro697Leu)	not provided [RCV002292142]	uncertain significance	19	50688926	50688926	Human		name
155797462	CV1859323	single nucleotide variant	NM_016148.5(SHANK1):c.2695C>G (p.Pro899Ala)	not provided [RCV002464951]	uncertain significance	19	50669265	50669265	Human		name
155797295	CV1860326	single nucleotide variant	NM_016148.5(SHANK1):c.2114T>A (p.Val705Glu)	not provided [RCV002466968]	uncertain significance	19	50688902	50688902	Human		name
156121331	CV1924259	single nucleotide variant	NM_016148.5(SHANK1):c.1776G>A (p.Trp592Ter)	not provided [RCV002640331]	pathogenic	19	50697928	50697928	Human		name
155946533	CV1935661	single nucleotide variant	NM_016148.5(SHANK1):c.1385C>G (p.Pro462Arg)	not provided [RCV002511410]	uncertain significance	19	50703668	50703668	Human		name
155947424	CV1935720	single nucleotide variant	NM_016148.5(SHANK1):c.2678C>T (p.Ala893Val)	Inborn genetic diseases [RCV002574749]\|not provided [RCV002511470]	uncertain significance	19	50669282	50669282	Human	1	name
156089623	CV2034330	single nucleotide variant	NM_016148.5(SHANK1):c.1313A>G (p.Asn438Ser)	not provided [RCV002760898]	uncertain significance	19	50703740	50703740	Human		name
156136838	CV2165756	single nucleotide variant	NM_016148.5(SHANK1):c.1358C>T (p.Ala453Val)	not provided [RCV003022382]	uncertain significance	19	50703695	50703695	Human		name
156141390	CV2199926	single nucleotide variant	NM_016148.5(SHANK1):c.2812G>A (p.Val938Ile)	Inborn genetic diseases [RCV002641298]	uncertain significance	19	50669148	50669148	Human	1	name
156261984	CV2201063	single nucleotide variant	NM_016148.5(SHANK1):c.2984C>T (p.Pro995Leu)	Inborn genetic diseases [RCV002669009]	uncertain significance	19	50668976	50668976	Human	1	name
155925534	CV2211856	single nucleotide variant	NM_016148.5(SHANK1):c.2921C>T (p.Ser974Phe)	Inborn genetic diseases [RCV002683451]	uncertain significance	19	50669039	50669039	Human	1	name
156234702	CV2245366	single nucleotide variant	NM_016148.5(SHANK1):c.2383G>A (p.Glu795Lys)	Inborn genetic diseases [RCV002767882]	uncertain significance	19	50687588	50687588	Human	1	name
156204213	CV2252468	single nucleotide variant	NM_016148.5(SHANK1):c.1015G>A (p.Glu339Lys)	Inborn genetic diseases [RCV002803650]\|not provided [RCV004572818]	uncertain significance	19	50711433	50711433	Human	1	name
156253172	CV2264556	single nucleotide variant	NM_016148.5(SHANK1):c.1607G>C (p.Gly536Ala)	Inborn genetic diseases [RCV002831248]	uncertain significance	19	50702607	50702607	Human	1	name
155981096	CV2272810	single nucleotide variant	NM_016148.5(SHANK1):c.2579C>T (p.Ser860Leu)	Inborn genetic diseases [RCV002818587]	uncertain significance	19	50672113	50672113	Human	1	name
156005208	CV2281474	single nucleotide variant	NM_016148.5(SHANK1):c.2659C>T (p.Arg887Trp)	Inborn genetic diseases [RCV002865711]	uncertain significance	19	50672033	50672033	Human	1	name
155996764	CV2288546	single nucleotide variant	NM_016148.5(SHANK1):c.1408G>A (p.Gly470Ser)	Inborn genetic diseases [RCV002882912]	uncertain significance	19	50703645	50703645	Human	1	name
156286219	CV2292061	single nucleotide variant	NM_016148.5(SHANK1):c.1505G>A (p.Arg502Gln)	Inborn genetic diseases [RCV002896834]	uncertain significance	19	50703548	50703548	Human	1	name
156019541	CV2301890	single nucleotide variant	NM_016148.5(SHANK1):c.1369G>C (p.Ala457Pro)	Inborn genetic diseases [RCV002884855]	uncertain significance	19	50703684	50703684	Human	1	name
156050096	CV2304554	single nucleotide variant	NM_016148.5(SHANK1):c.2153T>C (p.Met718Thr)	Inborn genetic diseases [RCV002911150]	uncertain significance	19	50688863	50688863	Human	1	name
156352856	CV2324057	single nucleotide variant	NM_016148.5(SHANK1):c.1208G>A (p.Arg403Gln)	Inborn genetic diseases [RCV002940147]	uncertain significance	19	50704134	50704134	Human	1	name
156286182	CV2327212	single nucleotide variant	NM_016148.5(SHANK1):c.1525G>A (p.Ala509Thr)	Inborn genetic diseases [RCV002935263]	uncertain significance	19	50703528	50703528	Human	1	name
156085064	CV2366129	single nucleotide variant	NM_016148.5(SHANK1):c.2404C>T (p.Pro802Ser)	Inborn genetic diseases [RCV003001518]	likely benign	19	50686798	50686798	Human	1	name
156347160	CV2375390	single nucleotide variant	NM_016148.5(SHANK1):c.1249G>A (p.Ala417Thr)	Inborn genetic diseases [RCV002719847]	likely benign	19	50703804	50703804	Human	1	name
156000050	CV2378665	single nucleotide variant	NM_016148.5(SHANK1):c.1612G>A (p.Gly538Arg)	Inborn genetic diseases [RCV002734074]	uncertain significance	19	50702602	50702602	Human	1	name
156251132	CV2394277	single nucleotide variant	NM_016148.5(SHANK1):c.1360C>T (p.Pro454Ser)	Inborn genetic diseases [RCV002768874]	uncertain significance	19	50703693	50703693	Human	1	name
156451130	CV2402507	single nucleotide variant	NM_016148.5(SHANK1):c.2363C>G (p.Ser788Cys)	not provided [RCV003123310]	uncertain significance	19	50687608	50687608	Human		name
243051598	CV2403959	single nucleotide variant	NM_016148.5(SHANK1):c.1630C>A (p.Arg544Ser)	not provided [RCV003129022]	uncertain significance	19	50702584	50702584	Human		name
329386843	CV2439439	single nucleotide variant	NM_016148.5(SHANK1):c.2621G>T (p.Arg874Leu)	Inborn genetic diseases [RCV003189824]	uncertain significance	19	50672071	50672071	Human	1	name
329355505	CV2445510	single nucleotide variant	NM_016148.5(SHANK1):c.1592C>T (p.Thr531Met)	Inborn genetic diseases [RCV003202907]	likely benign	19	50702622	50702622	Human	1	name
329401160	CV2446204	single nucleotide variant	NM_016148.5(SHANK1):c.2138G>A (p.Arg713Gln)	Inborn genetic diseases [RCV003198165]	uncertain significance	19	50688878	50688878	Human	1	name
329352425	CV2453005	single nucleotide variant	NM_016148.5(SHANK1):c.1840C>T (p.Arg614Cys)	Inborn genetic diseases [RCV003200506]	uncertain significance	19	50697864	50697864	Human	1	name
329361554	CV2455730	single nucleotide variant	NM_016148.5(SHANK1):c.2243C>T (p.Thr748Met)	Inborn genetic diseases [RCV003205578]	uncertain significance	19	50687988	50687988	Human	1	name
329384355	CV2472838	single nucleotide variant	NM_016148.5(SHANK1):c.1478G>C (p.Arg493Pro)	not provided [RCV003214140]	uncertain significance	19	50703575	50703575	Human		name
329846721	CV2534183	single nucleotide variant	NM_016148.5(SHANK1):c.2878G>A (p.Gly960Ser)	not provided [RCV003228390]	uncertain significance	19	50669082	50669082	Human		name
329848003	CV2667622	single nucleotide variant	NM_016148.5(SHANK1):c.1240C>T (p.Pro414Ser)	not provided [RCV003229189]	uncertain significance	19	50703813	50703813	Human		name
329953733	CV2668551	single nucleotide variant	NM_016148.5(SHANK1):c.2215G>A (p.Val739Met)	not provided [RCV003230204]	uncertain significance	19	50688016	50688016	Human		name
401720323	CV2675857	single nucleotide variant	NM_016148.5(SHANK1):c.1415C>T (p.Ser472Leu)	Inborn genetic diseases [RCV003243995]	uncertain significance	19	50703638	50703638	Human	1	name
401750514	CV2715667	single nucleotide variant	NM_016148.5(SHANK1):c.1450G>C (p.Gly484Arg)	Inborn genetic diseases [RCV003295205]	uncertain significance	19	50703603	50703603	Human	1	name
401780779	CV2727689	single nucleotide variant	NM_016148.5(SHANK1):c.1402T>C (p.Ser468Pro)	Inborn genetic diseases [RCV003288216]	likely benign	19	50703651	50703651	Human	1	name
401722088	CV2737620	single nucleotide variant	NM_016148.5(SHANK1):c.1560C>A (p.Ser520Arg)	not provided [RCV003314792]	uncertain significance	19	50702654	50702654	Human		name
401739653	CV2738609	single nucleotide variant	NM_016148.5(SHANK1):c.1369G>T (p.Ala457Ser)	not provided [RCV003318003]	uncertain significance	19	50703684	50703684	Human		name
401829893	CV2747608	single nucleotide variant	NM_016148.5(SHANK1):c.1413G>C (p.Gln471His)	not provided [RCV003329074]	uncertain significance	19	50703640	50703640	Human		name
401871624	CV2749567	single nucleotide variant	NM_016148.5(SHANK1):c.2381A>G (p.Glu794Gly)	not provided [RCV003332695]	uncertain significance	19	50687590	50687590	Human		name
401868817	CV2767351	single nucleotide variant	NM_016148.5(SHANK1):c.1145C>A (p.Thr382Asn)	Inborn genetic diseases [RCV003345543]	uncertain significance	19	50704447	50704447	Human	1	name
401911658	CV2800515	single nucleotide variant	NM_016148.5(SHANK1):c.2405C>T (p.Pro802Leu)	SHANK1-related disorder [RCV003399605]\|not provided [RCV005416717]	uncertain significance	19	50686797	50686797	Human		name , trait , alternate_id
401910711	CV2818681	duplication	NM_016148.5(SHANK1):c.5441dup (p.Pro1815fs)	not provided [RCV003425380]	uncertain significance	19	50666518	50666519	Human		name
401929131	CV2818686	single nucleotide variant	NM_016148.5(SHANK1):c.2388G>A (p.Met796Ile)	not provided [RCV003407087]	uncertain significance	19	50687583	50687583	Human		name
401912760	CV2829982	deletion	NM_016148.5(SHANK1):c.4407del (p.His1470fs)	not provided [RCV003441196]	pathogenic	19	50667553	50667553	Human		name
401914832	CV2830855	single nucleotide variant	NM_016148.5(SHANK1):c.2104C>A (p.Leu702Met)	not provided [RCV003442594]	uncertain significance	19	50688912	50688912	Human		name
401916503	CV2831135	single nucleotide variant	NM_016148.5(SHANK1):c.2806C>A (p.Pro936Thr)	not provided [RCV003443404]	uncertain significance	19	50669154	50669154	Human		name
401948485	CV2832589	single nucleotide variant	NM_016148.5(SHANK1):c.1118A>G (p.Lys373Arg)	SHANK1-related Neurodevelopmental Disorder [RCV003448569]	uncertain significance	19	50704474	50704474	Human		name , trait
405270065	CV2842586	single nucleotide variant	NM_016148.5(SHANK1):c.2206C>T (p.Arg736Ter)	EBV-positive nodal T- and NK-cell lymphoma [RCV004557943]\|Inborn genetic diseases [RCV004673898]\|SHANK1-associated neurodevelopmental disorder [RCV003885350]	likely benign\|uncertain significance	19	50688025	50688025	Human	2	name , trait
405200502	CV2877182	single nucleotide variant	NM_016148.5(SHANK1):c.2809C>G (p.Pro937Ala)	not provided [RCV003551338]	uncertain significance	19	50669151	50669151	Human		name
405189506	CV2987863	single nucleotide variant	NM_016148.5(SHANK1):c.1082C>A (p.Thr361Asn)	not provided [RCV003706337]	uncertain significance	19	50704510	50704510	Human		name
405171856	CV3150118	single nucleotide variant	NM_016148.5(SHANK1):c.1426G>A (p.Ala476Thr)	not provided [RCV003841589]	uncertain significance	19	50703627	50703627	Human		name
405258790	CV3194164	single nucleotide variant	NM_016148.5(SHANK1):c.1507G>A (p.Gly503Arg)	SHANK1-related disorder [RCV003893745]	uncertain significance	19	50703546	50703546	Human		name , trait , alternate_id
405287913	CV3217987	single nucleotide variant	NM_016148.5(SHANK1):c.2691C>G (p.Asp897Glu)	SHANK1-related disorder [RCV003982111]	benign	19	50669269	50669269	Human		name , trait , alternate_id
405729822	CV3314274	single nucleotide variant	NM_016148.5(SHANK1):c.2911G>A (p.Asp971Asn)	Inborn genetic diseases [RCV004450859]	uncertain significance	19	50669049	50669049	Human	1	name
405729768	CV3318210	single nucleotide variant	NM_016148.5(SHANK1):c.1114G>A (p.Asp372Asn)	Inborn genetic diseases [RCV004450852]	likely benign	19	50704478	50704478	Human	1	name
405729786	CV3318212	single nucleotide variant	NM_016148.5(SHANK1):c.1594G>A (p.Gly532Arg)	Inborn genetic diseases [RCV004450854]	uncertain significance	19	50702620	50702620	Human	1	name
405729801	CV3318214	single nucleotide variant	NM_016148.5(SHANK1):c.2134T>C (p.Trp712Arg)	Inborn genetic diseases [RCV004450856]	uncertain significance	19	50688882	50688882	Human	1	name
405729817	CV3318216	single nucleotide variant	NM_016148.5(SHANK1):c.2596C>A (p.His866Asn)	Inborn genetic diseases [RCV004450858]	likely benign	19	50672096	50672096	Human	1	name
405853822	CV3393698	single nucleotide variant	NM_016148.5(SHANK1):c.2804C>T (p.Thr935Ile)	not provided [RCV004546923]	uncertain significance	19	50669156	50669156	Human		name
407426461	CV3411345	single nucleotide variant	NM_016148.5(SHANK1):c.2048C>T (p.Ala683Val)	SHANK1-related disorder [RCV004750479]\|not provided [RCV004590522]	uncertain significance	19	50688968	50688968	Human		name , trait , alternate_id
407469366	CV3480409	single nucleotide variant	NM_016148.5(SHANK1):c.2405C>G (p.Pro802Arg)	Inborn genetic diseases [RCV004661453]	uncertain significance	19	50686797	50686797	Human	1	name
407469373	CV3480412	single nucleotide variant	NM_016148.5(SHANK1):c.1576G>T (p.Gly526Trp)	Inborn genetic diseases [RCV004661456]	likely benign	19	50702638	50702638	Human	1	name
407469378	CV3480414	single nucleotide variant	NM_016148.5(SHANK1):c.1265G>T (p.Gly422Val)	Inborn genetic diseases [RCV004661458]	uncertain significance	19	50703788	50703788	Human	1	name
407493111	CV3480416	single nucleotide variant	NM_016148.5(SHANK1):c.1561G>A (p.Gly521Arg)	Inborn genetic diseases [RCV004667296]	uncertain significance	19	50702653	50702653	Human	1	name
407493128	CV3480424	single nucleotide variant	NM_016148.5(SHANK1):c.2395G>A (p.Glu799Lys)	Inborn genetic diseases [RCV004667301]	uncertain significance	19	50686807	50686807	Human	1	name
408391277	CV3523132	single nucleotide variant	NM_016148.5(SHANK1):c.1367C>G (p.Ala456Gly)	not provided [RCV004770504]	uncertain significance	19	50703686	50703686	Human		name
408389613	CV3524656	single nucleotide variant	NM_016148.5(SHANK1):c.2297T>A (p.Val766Glu)	not provided [RCV004769551]	uncertain significance	19	50687934	50687934	Human		name
408387967	CV3527292	single nucleotide variant	NM_016148.5(SHANK1):c.1034C>T (p.Ala345Val)	not provided [RCV004773594]	uncertain significance	19	50711414	50711414	Human		name
596925777	CV3530575	single nucleotide variant	NM_016148.5(SHANK1):c.2515C>A (p.Pro839Thr)	not provided [RCV004778160]	uncertain significance	19	50686299	50686299	Human		name
596925489	CV3535810	single nucleotide variant	NM_016148.5(SHANK1):c.1505G>C (p.Arg502Pro)	Neurodevelopmental disorder [RCV004788240]	uncertain significance	19	50703548	50703548	Human	1	name
596929134	CV3540826	single nucleotide variant	NM_016148.5(SHANK1):c.1862A>G (p.Glu621Gly)	not provided [RCV004795155]	uncertain significance	19	50697664	50697664	Human		name
596945163	CV3543770	single nucleotide variant	NM_016148.5(SHANK1):c.2738C>T (p.Ser913Phe)	not provided [RCV004801892]	uncertain significance	19	50669222	50669222	Human		name
597639198	CV3602377	single nucleotide variant	NM_016148.5(SHANK1):c.2234G>A (p.Gly745Glu)	Inborn genetic diseases [RCV004971142]	uncertain significance	19	50687997	50687997	Human	1	name
597639203	CV3602381	single nucleotide variant	NM_016148.5(SHANK1):c.2083G>A (p.Ala695Thr)	Inborn genetic diseases [RCV004971144]	uncertain significance	19	50688933	50688933	Human	1	name
597708570	CV3602385	single nucleotide variant	NM_016148.5(SHANK1):c.2341A>G (p.Thr781Ala)	Inborn genetic diseases [RCV004957723]	likely benign	19	50687630	50687630	Human	1	name
597708592	CV3602389	single nucleotide variant	NM_016148.5(SHANK1):c.1306C>T (p.Arg436Trp)	Inborn genetic diseases [RCV004957727]	uncertain significance	19	50703747	50703747	Human	1	name
597708612	CV3602393	single nucleotide variant	NM_016148.5(SHANK1):c.1250C>T (p.Ala417Val)	Inborn genetic diseases [RCV004957730]	uncertain significance	19	50703803	50703803	Human	1	name
597708638	CV3602399	single nucleotide variant	NM_016148.5(SHANK1):c.2858C>T (p.Pro953Leu)	Inborn genetic diseases [RCV004957734]	uncertain significance	19	50669102	50669102	Human	1	name
597639222	CV3602400	single nucleotide variant	NM_016148.5(SHANK1):c.2150G>A (p.Arg717Gln)	Inborn genetic diseases [RCV004971149]	uncertain significance	19	50688866	50688866	Human	1	name
597708645	CV3602402	single nucleotide variant	NM_016148.5(SHANK1):c.2497A>G (p.Ile833Val)	Inborn genetic diseases [RCV004957735]	uncertain significance	19	50686317	50686317	Human	1	name
597708649	CV3602405	single nucleotide variant	NM_016148.5(SHANK1):c.1489G>T (p.Ala497Ser)	Inborn genetic diseases [RCV004957736]	uncertain significance	19	50703564	50703564	Human	1	name
597639241	CV3602407	single nucleotide variant	NM_016148.5(SHANK1):c.1798G>C (p.Val600Leu)	Inborn genetic diseases [RCV004971154]	uncertain significance	19	50697906	50697906	Human	1	name
597708678	CV3602414	single nucleotide variant	NM_016148.5(SHANK1):c.2686G>C (p.Asp896His)	Inborn genetic diseases [RCV004957741]	uncertain significance	19	50669274	50669274	Human	1	name
597639252	CV3602415	single nucleotide variant	NM_016148.5(SHANK1):c.1450G>A (p.Gly484Arg)	Inborn genetic diseases [RCV004971157]	uncertain significance	19	50703603	50703603	Human	1	name
597639258	CV3602417	single nucleotide variant	NM_016148.5(SHANK1):c.2476C>G (p.Leu826Val)	Inborn genetic diseases [RCV004971159]	uncertain significance	19	50686338	50686338	Human	1	name
598124820	CV3883694	single nucleotide variant	NM_016148.5(SHANK1):c.2302A>C (p.Lys768Gln)	not provided [RCV005236048]	uncertain significance	19	50687929	50687929	Human		name
598125993	CV3886011	single nucleotide variant	NM_016148.5(SHANK1):c.2350C>G (p.Leu784Val)	not provided [RCV005241814]	uncertain significance	19	50687621	50687621	Human		name
598129975	CV3887401	single nucleotide variant	NM_016148.5(SHANK1):c.2996A>C (p.His999Pro)	not provided [RCV005245462]	likely benign	19	50668964	50668964	Human		name
598234716	CV3893588	single nucleotide variant	NM_016148.5(SHANK1):c.1453A>G (p.Thr485Ala)	not provided [RCV005256321]	uncertain significance	19	50703600	50703600	Human		name
598241007	CV3917931	single nucleotide variant	NM_016148.5(SHANK1):c.1369G>A (p.Ala457Thr)	Inborn genetic diseases [RCV005276273]	uncertain significance	19	50703684	50703684	Human	1	name
598241022	CV3917934	single nucleotide variant	NM_016148.5(SHANK1):c.1256G>A (p.Arg419Gln)	Inborn genetic diseases [RCV005276276]	uncertain significance	19	50703797	50703797	Human	1	name
598241028	CV3917935	deletion	NM_016148.5(SHANK1):c.4663del (p.Asp1555fs)	Inborn genetic diseases [RCV005276277]	pathogenic	19	50667297	50667297	Human	1	name
598241034	CV3917936	single nucleotide variant	NM_016148.5(SHANK1):c.1207C>T (p.Arg403Ter)	Inborn genetic diseases [RCV005276278]	pathogenic	19	50704135	50704135	Human	1	name
598241052	CV3917941	single nucleotide variant	NM_016148.5(SHANK1):c.2875G>T (p.Gly959Cys)	Inborn genetic diseases [RCV005276282]	uncertain significance	19	50669085	50669085	Human	1	name
598241055	CV3917942	single nucleotide variant	NM_016148.5(SHANK1):c.1291C>T (p.Pro431Ser)	Inborn genetic diseases [RCV005276283]	uncertain significance	19	50703762	50703762	Human	1	name
598241060	CV3917943	single nucleotide variant	NM_016148.5(SHANK1):c.2726G>A (p.Ser909Asn)	Inborn genetic diseases [RCV005276284]\|not provided [RCV005416801]	uncertain significance	19	50669234	50669234	Human	1	name
616935261	CV4009417	single nucleotide variant	NM_016148.5(SHANK1):c.1274G>T (p.Gly425Val)	not provided [RCV005402589]	uncertain significance	19	50703779	50703779	Human		name
616937686	CV4014858	single nucleotide variant	NM_016148.5(SHANK1):c.1388G>A (p.Gly463Asp)	not provided [RCV005411874]	uncertain significance	19	50703665	50703665	Human		name
617153535	CV4016626	single nucleotide variant	NM_016148.5(SHANK1):c.2336C>T (p.Pro779Leu)	not provided [RCV005415723]	uncertain significance	19	50687635	50687635	Human		name
8636944	CV92169	single nucleotide variant	NM_016148.2(SHANK1):c.2470G>A (p.Glu824Lys)	Malignant melanoma [RCV000072267]	not provided	19	50686344	50686344	Human		name
38596381	CV964008	single nucleotide variant	NM_016148.5(SHANK1):c.1750C>T (p.Leu584Phe)	Intellectual disability [RCV001251634]	likely benign	19	50697954	50697954	Human	2	name
150435082	CV1244326	single nucleotide variant	NM_016148.5(SHANK1):c.6458G>A (p.Arg2153Gln)	Inborn genetic diseases [RCV004968229]\|not provided [RCV001665317]	uncertain significance	19	50661993	50661993	Human	1	name
150554303	CV1295721	single nucleotide variant	NM_016148.5(SHANK1):c.5876C>T (p.Ser1959Phe)	not provided [RCV001770951]	uncertain significance	19	50662575	50662575	Human		name
150550177	CV1302339	single nucleotide variant	NM_016148.5(SHANK1):c.5258C>T (p.Thr1753Ile)	not provided [RCV001752791]	uncertain significance	19	50666702	50666702	Human		name
150553362	CV1303346	single nucleotide variant	NM_016148.5(SHANK1):c.4055C>G (p.Pro1352Arg)	not provided [RCV001769036]	uncertain significance	19	50667905	50667905	Human		name
151352186	CV1322307	single nucleotide variant	NM_016148.5(SHANK1):c.3865G>A (p.Asp1289Asn)	not provided [RCV001806930]	uncertain significance	19	50668095	50668095	Human		name
151352264	CV1322350	single nucleotide variant	NM_016148.5(SHANK1):c.4022C>T (p.Pro1341Leu)	Inborn genetic diseases [RCV004656656]\|not provided [RCV001806974]	uncertain significance	19	50667938	50667938	Human	1	name
151663593	CV1334059	single nucleotide variant	NM_016148.5(SHANK1):c.3605C>T (p.Pro1202Leu)	not provided [RCV001839233]	uncertain significance	19	50668355	50668355	Human		name
152056751	CV1670491	single nucleotide variant	NM_016148.5(SHANK1):c.4405C>T (p.Pro1469Ser)	not provided [RCV002226011]	uncertain significance	19	50667555	50667555	Human		name
152057957	CV1670659	single nucleotide variant	NM_016148.5(SHANK1):c.3142C>T (p.Arg1048Ter)	not provided [RCV002226179]	pathogenic	19	50668818	50668818	Human		name
152979673	CV1675717	single nucleotide variant	NM_016148.5(SHANK1):c.6037C>T (p.Pro2013Ser)	not provided [RCV002244308]	uncertain significance	19	50662414	50662414	Human		name
153001401	CV1684126	single nucleotide variant	NM_016148.5(SHANK1):c.5768G>A (p.Arg1923Lys)	not provided [RCV002255053]	uncertain significance	19	50666192	50666192	Human		name
153301913	CV1687973	single nucleotide variant	NM_016148.5(SHANK1):c.3785C>A (p.Ala1262Glu)	not provided [RCV002265199]	uncertain significance	19	50668175	50668175	Human		name
153349890	CV1693372	single nucleotide variant	NM_016148.5(SHANK1):c.4658C>T (p.Ser1553Leu)	not provided [RCV002276322]	uncertain significance	19	50667302	50667302	Human		name
155642159	CV1706172	single nucleotide variant	NM_016148.5(SHANK1):c.4030G>C (p.Gly1344Arg)	not provided [RCV002287035]	uncertain significance	19	50667930	50667930	Human		name
155715256	CV1780379	single nucleotide variant	NM_016148.5(SHANK1):c.4648C>G (p.Pro1550Ala)	not provided [RCV002305983]	uncertain significance	19	50667312	50667312	Human		name
156308317	CV1895086	single nucleotide variant	NM_016148.5(SHANK1):c.3752G>A (p.Arg1251His)	not provided [RCV003088294]	uncertain significance	19	50668208	50668208	Human		name
156435328	CV1940726	single nucleotide variant	NM_016148.5(SHANK1):c.6428C>A (p.Thr2143Asn)	not provided [RCV003104790]	uncertain significance	19	50662023	50662023	Human		name
156232793	CV2021237	single nucleotide variant	NM_016148.5(SHANK1):c.4252C>T (p.Arg1418Trp)	not provided [RCV002745370]	uncertain significance	19	50667708	50667708	Human		name
156012691	CV2039503	single nucleotide variant	NM_016148.5(SHANK1):c.5008G>A (p.Gly1670Ser)	not provided [RCV002756770]	uncertain significance	19	50666952	50666952	Human		name
156235827	CV2193428	single nucleotide variant	NM_016148.5(SHANK1):c.6139G>C (p.Ala2047Pro)	Inborn genetic diseases [RCV002645253]	likely benign	19	50662312	50662312	Human	1	name
155959545	CV2193919	single nucleotide variant	NM_016148.5(SHANK1):c.5119A>G (p.Ser1707Gly)	Inborn genetic diseases [RCV002686479]	uncertain significance	19	50666841	50666841	Human	1	name
156075738	CV2198117	single nucleotide variant	NM_016148.5(SHANK1):c.5165C>T (p.Pro1722Leu)	Inborn genetic diseases [RCV002660501]	uncertain significance	19	50666795	50666795	Human	1	name
156027116	CV2199274	single nucleotide variant	NM_016148.5(SHANK1):c.5970G>A (p.Met1990Ile)	Inborn genetic diseases [RCV002691291]	uncertain significance	19	50662481	50662481	Human	1	name
156262663	CV2201109	single nucleotide variant	NM_016148.5(SHANK1):c.5137G>A (p.Gly1713Arg)	Inborn genetic diseases [RCV002669050]	uncertain significance	19	50666823	50666823	Human	1	name
156039159	CV2215114	single nucleotide variant	NM_016148.5(SHANK1):c.6215C>T (p.Ala2072Val)	Inborn genetic diseases [RCV002692134]	uncertain significance	19	50662236	50662236	Human	1	name
155923278	CV2215555	single nucleotide variant	NM_016148.5(SHANK1):c.5971C>T (p.Arg1991Trp)	Inborn genetic diseases [RCV002727743]	uncertain significance	19	50662480	50662480	Human	1	name
156329492	CV2216424	single nucleotide variant	NM_016148.5(SHANK1):c.4456G>A (p.Glu1486Lys)	Inborn genetic diseases [RCV002717817]	uncertain significance	19	50667504	50667504	Human	1	name
156338154	CV2224900	single nucleotide variant	NM_016148.5(SHANK1):c.6244C>G (p.Leu2082Val)	Inborn genetic diseases [RCV002718798]	uncertain significance	19	50662207	50662207	Human	1	name
156045609	CV2234486	single nucleotide variant	NM_016148.5(SHANK1):c.5734G>A (p.Val1912Ile)	Inborn genetic diseases [RCV002781708]	uncertain significance	19	50666226	50666226	Human	1	name
155917950	CV2236693	single nucleotide variant	NM_016148.5(SHANK1):c.4250G>T (p.Arg1417Leu)	Inborn genetic diseases [RCV002772574]	uncertain significance	19	50667710	50667710	Human	1	name
156099505	CV2250681	single nucleotide variant	NM_016148.5(SHANK1):c.4823C>G (p.Pro1608Arg)	Inborn genetic diseases [RCV002799032]	uncertain significance	19	50667137	50667137	Human	1	name
156101139	CV2260311	single nucleotide variant	NM_016148.5(SHANK1):c.4769A>C (p.His1590Pro)	Inborn genetic diseases [RCV002799133]	uncertain significance	19	50667191	50667191	Human	1	name
156362831	CV2265614	single nucleotide variant	NM_016148.5(SHANK1):c.4124A>T (p.Gln1375Leu)	Inborn genetic diseases [RCV002813084]	uncertain significance	19	50667836	50667836	Human	1	name
156244670	CV2267397	single nucleotide variant	NM_016148.5(SHANK1):c.6391G>A (p.Ala2131Thr)	Inborn genetic diseases [RCV002830740]	uncertain significance	19	50662060	50662060	Human	1	name
156045543	CV2268609	single nucleotide variant	NM_016148.5(SHANK1):c.4921G>A (p.Ala1641Thr)	Inborn genetic diseases [RCV002822013]	uncertain significance	19	50667039	50667039	Human	1	name
156258927	CV2274072	single nucleotide variant	NM_016148.5(SHANK1):c.5849C>T (p.Pro1950Leu)	Inborn genetic diseases [RCV002831586]	uncertain significance	19	50662602	50662602	Human	1	name
155962077	CV2285611	single nucleotide variant	NM_016148.5(SHANK1):c.5213G>C (p.Gly1738Ala)	Inborn genetic diseases [RCV002841420]	uncertain significance	19	50666747	50666747	Human	1	name
156280261	CV2295025	single nucleotide variant	NM_016148.5(SHANK1):c.5672T>C (p.Leu1891Pro)	Inborn genetic diseases [RCV002896472]	uncertain significance	19	50666288	50666288	Human	1	name
155999925	CV2296253	single nucleotide variant	NM_016148.5(SHANK1):c.5417C>T (p.Pro1806Leu)	Inborn genetic diseases [RCV002883177]	uncertain significance	19	50666543	50666543	Human	1	name
156192806	CV2301917	single nucleotide variant	NM_016148.5(SHANK1):c.4310C>G (p.Pro1437Arg)	Inborn genetic diseases [RCV002892646]	uncertain significance	19	50667650	50667650	Human	1	name
156290721	CV2309872	single nucleotide variant	NM_016148.5(SHANK1):c.5891C>T (p.Ala1964Val)	Inborn genetic diseases [RCV002897159]	uncertain significance	19	50662560	50662560	Human	1	name
156306396	CV2314937	single nucleotide variant	NM_016148.5(SHANK1):c.4070T>C (p.Leu1357Pro)	Inborn genetic diseases [RCV002898420]	uncertain significance	19	50667890	50667890	Human	1	name
156067596	CV2324134	single nucleotide variant	NM_016148.5(SHANK1):c.5296G>C (p.Gly1766Arg)	Inborn genetic diseases [RCV002912166]	uncertain significance	19	50666664	50666664	Human	1	name
156193615	CV2325852	single nucleotide variant	NM_016148.5(SHANK1):c.4300C>T (p.Pro1434Ser)	Inborn genetic diseases [RCV002931138]	uncertain significance	19	50667660	50667660	Human	1	name
156288477	CV2327414	single nucleotide variant	NM_016148.5(SHANK1):c.4505C>T (p.Ala1502Val)	Inborn genetic diseases [RCV002935422]	uncertain significance	19	50667455	50667455	Human	1	name
156353414	CV2327533	single nucleotide variant	NM_016148.5(SHANK1):c.5537C>T (p.Pro1846Leu)	Inborn genetic diseases [RCV002940229]	uncertain significance	19	50666423	50666423	Human	1	name
156363045	CV2330492	single nucleotide variant	NM_016148.5(SHANK1):c.3226T>C (p.Ser1076Pro)	Inborn genetic diseases [RCV002941635]	uncertain significance	19	50668734	50668734	Human	1	name
156178686	CV2331333	single nucleotide variant	NM_016148.5(SHANK1):c.4414G>A (p.Gly1472Arg)	Inborn genetic diseases [RCV002956272]	uncertain significance	19	50667546	50667546	Human	1	name
156337687	CV2343086	single nucleotide variant	NM_016148.5(SHANK1):c.5428G>A (p.Gly1810Ser)	Inborn genetic diseases [RCV002964923]	uncertain significance	19	50666532	50666532	Human	1	name
155981241	CV2343810	single nucleotide variant	NM_016148.5(SHANK1):c.3170C>G (p.Pro1057Arg)	Inborn genetic diseases [RCV002946692]	uncertain significance	19	50668790	50668790	Human	1	name
156124197	CV2350088	single nucleotide variant	NM_016148.5(SHANK1):c.5956G>A (p.Val1986Met)	Inborn genetic diseases [RCV002981431]	likely benign	19	50662495	50662495	Human	1	name
155988321	CV2355065	single nucleotide variant	NM_016148.5(SHANK1):c.3710T>G (p.Val1237Gly)	Inborn genetic diseases [RCV002974466]	uncertain significance	19	50668250	50668250	Human	1	name
156390091	CV2375894	single nucleotide variant	NM_016148.5(SHANK1):c.6373G>A (p.Asp2125Asn)	Inborn genetic diseases [RCV002724505]	uncertain significance	19	50662078	50662078	Human	1	name
156045352	CV2381709	single nucleotide variant	NM_016148.5(SHANK1):c.6167C>T (p.Pro2056Leu)	Inborn genetic diseases [RCV002704631]\|not provided [RCV003883942]	likely benign\|uncertain significance	19	50662284	50662284	Human	1	name
156258922	CV2383875	single nucleotide variant	NM_016148.5(SHANK1):c.3695T>G (p.Phe1232Cys)	Inborn genetic diseases [RCV002714440]	uncertain significance	19	50668265	50668265	Human	1	name
156213725	CV2385867	single nucleotide variant	NM_016148.5(SHANK1):c.4154A>G (p.Tyr1385Cys)	Inborn genetic diseases [RCV002744245]	uncertain significance	19	50667806	50667806	Human	1	name
156260473	CV2395552	single nucleotide variant	NM_016148.5(SHANK1):c.3716C>G (p.Ala1239Gly)	Inborn genetic diseases [RCV002769416]	uncertain significance	19	50668244	50668244	Human	1	name
156161744	CV2398294	single nucleotide variant	NM_016148.5(SHANK1):c.4117G>C (p.Ala1373Pro)	Inborn genetic diseases [RCV002764762]	uncertain significance	19	50667843	50667843	Human	1	name
156434519	CV2402979	single nucleotide variant	NM_016148.5(SHANK1):c.5282C>A (p.Ala1761Glu)	not provided [RCV003126407]	uncertain significance	19	50666678	50666678	Human		name
243052683	CV2416202	single nucleotide variant	NM_016148.5(SHANK1):c.4886G>T (p.Ser1629Ile)	not provided [RCV003149263]	uncertain significance	19	50667074	50667074	Human		name
329376455	CV2425143	single nucleotide variant	NM_016148.5(SHANK1):c.4454C>T (p.Pro1485Leu)	Inborn genetic diseases [RCV003174184]	likely benign	19	50667506	50667506	Human	1	name
329371206	CV2431918	single nucleotide variant	NM_016148.5(SHANK1):c.6080C>A (p.Pro2027His)	Inborn genetic diseases [RCV003184460]	likely benign	19	50662371	50662371	Human	1	name
329354073	CV2436904	single nucleotide variant	NM_016148.5(SHANK1):c.4085G>A (p.Arg1362Gln)	Inborn genetic diseases [RCV003201845]	uncertain significance	19	50667875	50667875	Human	1	name
329361693	CV2437831	single nucleotide variant	NM_016148.5(SHANK1):c.6041C>T (p.Ala2014Val)	Inborn genetic diseases [RCV003180558]	uncertain significance	19	50662410	50662410	Human	1	name
329400059	CV2440459	single nucleotide variant	NM_016148.5(SHANK1):c.6214G>A (p.Ala2072Thr)	Inborn genetic diseases [RCV003197042]	uncertain significance	19	50662237	50662237	Human	1	name
329371699	CV2442837	single nucleotide variant	NM_016148.5(SHANK1):c.6005C>T (p.Ser2002Leu)	Inborn genetic diseases [RCV003184599]	uncertain significance	19	50662446	50662446	Human	1	name
329355625	CV2445551	single nucleotide variant	NM_016148.5(SHANK1):c.4592C>T (p.Pro1531Leu)	Inborn genetic diseases [RCV003202934]	uncertain significance	19	50667368	50667368	Human	1	name
329387603	CV2446719	single nucleotide variant	NM_016148.5(SHANK1):c.3113G>A (p.Arg1038His)	Inborn genetic diseases [RCV003190216]	uncertain significance	19	50668847	50668847	Human	1	name
329351527	CV2462078	single nucleotide variant	NM_016148.5(SHANK1):c.5441G>T (p.Gly1814Val)	Inborn genetic diseases [RCV003199860]	uncertain significance	19	50666519	50666519	Human	1	name
329847405	CV2524241	single nucleotide variant	NM_016148.5(SHANK1):c.4627C>T (p.Pro1543Ser)	not provided [RCV003227133]	uncertain significance	19	50667333	50667333	Human		name
329954162	CV2669441	single nucleotide variant	NM_016148.5(SHANK1):c.4088C>A (p.Ala1363Glu)	not provided [RCV003231949]	uncertain significance	19	50667872	50667872	Human		name
329952804	CV2670153	single nucleotide variant	NM_016148.5(SHANK1):c.3181G>A (p.Ala1061Thr)	not provided [RCV003233363]	uncertain significance	19	50668779	50668779	Human		name
401723325	CV2674914	single nucleotide variant	NM_016148.5(SHANK1):c.3223G>A (p.Gly1075Ser)	Inborn genetic diseases [RCV003245123]	uncertain significance	19	50668737	50668737	Human	1	name
401722633	CV2677056	single nucleotide variant	NM_016148.5(SHANK1):c.4528C>T (p.Pro1510Ser)	Inborn genetic diseases [RCV003244925]	uncertain significance	19	50667432	50667432	Human	1	name
401721510	CV2683533	single nucleotide variant	NM_016148.5(SHANK1):c.6106C>T (p.Arg2036Cys)	Inborn genetic diseases [RCV003244447]\|not provided [RCV003491350]	likely benign\|uncertain significance	19	50662345	50662345	Human	1	name
401729391	CV2690196	single nucleotide variant	NM_016148.5(SHANK1):c.3601G>T (p.Ala1201Ser)	Inborn genetic diseases [RCV003270927]	uncertain significance	19	50668359	50668359	Human	1	name
401735099	CV2690776	single nucleotide variant	NM_016148.5(SHANK1):c.3380C>T (p.Pro1127Leu)	Inborn genetic diseases [RCV003249676]	uncertain significance	19	50668580	50668580	Human	1	name
401760870	CV2695190	single nucleotide variant	NM_016148.5(SHANK1):c.3833C>G (p.Pro1278Arg)	Inborn genetic diseases [RCV003280662]	uncertain significance	19	50668127	50668127	Human	1	name
401743700	CV2696848	single nucleotide variant	NM_016148.5(SHANK1):c.3638C>T (p.Pro1213Leu)	Inborn genetic diseases [RCV003241435]	uncertain significance	19	50668322	50668322	Human	1	name
401748071	CV2699996	single nucleotide variant	NM_016148.5(SHANK1):c.5941C>A (p.Arg1981Ser)	Inborn genetic diseases [RCV003276125]	uncertain significance	19	50662510	50662510	Human	1	name
401737843	CV2703669	single nucleotide variant	NM_016148.5(SHANK1):c.3686C>T (p.Thr1229Met)	Inborn genetic diseases [RCV003273540]	uncertain significance	19	50668274	50668274	Human	1	name
401725948	CV2736009	single nucleotide variant	NM_016148.5(SHANK1):c.5941C>T (p.Arg1981Cys)	not provided [RCV003312454]	likely benign	19	50662510	50662510	Human		name
401796580	CV2740746	single nucleotide variant	NM_016148.5(SHANK1):c.5952G>C (p.Gln1984His)	not provided [RCV003321416]	uncertain significance	19	50662499	50662499	Human		name
401829877	CV2747624	single nucleotide variant	NM_016148.5(SHANK1):c.5149G>C (p.Gly1717Arg)	not provided [RCV003329090]	uncertain significance	19	50666811	50666811	Human		name
401830249	CV2747975	single nucleotide variant	NM_016148.5(SHANK1):c.4669G>A (p.Glu1557Lys)	not provided [RCV003329582]	uncertain significance	19	50667291	50667291	Human		name
401860685	CV2758578	single nucleotide variant	NM_016148.5(SHANK1):c.4267A>G (p.Arg1423Gly)	Inborn genetic diseases [RCV003342297]\|not provided [RCV003549067]	uncertain significance	19	50667693	50667693	Human	1	name
401884347	CV2765917	single nucleotide variant	NM_016148.5(SHANK1):c.5009G>C (p.Gly1670Ala)	Inborn genetic diseases [RCV003351155]	uncertain significance	19	50666951	50666951	Human	1	name
401871215	CV2783450	single nucleotide variant	NM_016148.5(SHANK1):c.6187G>A (p.Gly2063Arg)	Inborn genetic diseases [RCV003381486]	likely benign	19	50662264	50662264	Human	1	name
401933159	CV2797466	single nucleotide variant	NM_016148.5(SHANK1):c.4400C>G (p.Pro1467Arg)	SHANK1-related disorder [RCV003392751]	uncertain significance	19	50667560	50667560	Human		name , trait , alternate_id
401908372	CV2801261	single nucleotide variant	NM_016148.5(SHANK1):c.4954G>C (p.Ala1652Pro)	SHANK1-related disorder [RCV003397501]	uncertain significance	19	50667006	50667006	Human		name , trait , alternate_id
401933401	CV2804286	single nucleotide variant	NM_016148.5(SHANK1):c.4367G>A (p.Gly1456Glu)	SHANK1-related disorder [RCV003392904]	uncertain significance	19	50667593	50667593	Human		name , trait , alternate_id
401937382	CV2818680	single nucleotide variant	NM_016148.5(SHANK1):c.5458C>T (p.Pro1820Ser)	not provided [RCV003415392]	uncertain significance	19	50666502	50666502	Human		name
401913443	CV2830391	single nucleotide variant	NM_016148.5(SHANK1):c.3410C>T (p.Ser1137Phe)	not provided [RCV003441606]	uncertain significance	19	50668550	50668550	Human		name
401914153	CV2830576	single nucleotide variant	NM_016148.5(SHANK1):c.5261C>T (p.Pro1754Leu)	not provided [RCV003442314]	uncertain significance	19	50666699	50666699	Human		name
401942634	CV2839709	single nucleotide variant	NM_016148.5(SHANK1):c.5324G>T (p.Gly1775Val)	not provided [RCV003456609]	uncertain significance	19	50666636	50666636	Human		name
404993512	CV2850997	single nucleotide variant	NM_016148.5(SHANK1):c.5282C>T (p.Ala1761Val)	not provided [RCV003491472]	uncertain significance	19	50666678	50666678	Human		name
404993521	CV2850998	single nucleotide variant	NM_016148.5(SHANK1):c.3530C>G (p.Thr1177Ser)	not provided [RCV003491473]	uncertain significance	19	50668430	50668430	Human		name
404993537	CV2851000	single nucleotide variant	NM_016148.5(SHANK1):c.3965G>T (p.Gly1322Val)	not provided [RCV003491475]	uncertain significance	19	50667995	50667995	Human		name
402474035	CV2919608	single nucleotide variant	NM_016148.5(SHANK1):c.3505G>A (p.Gly1169Ser)	not provided [RCV003571117]	uncertain significance	19	50668455	50668455	Human		name
405237806	CV2969840	single nucleotide variant	NM_016148.5(SHANK1):c.4535C>T (p.Ser1512Leu)	not provided [RCV003683291]	uncertain significance	19	50667425	50667425	Human		name
404991826	CV2995128	single nucleotide variant	NM_016148.5(SHANK1):c.4444C>T (p.Pro1482Ser)	not provided [RCV003692285]	uncertain significance	19	50667516	50667516	Human		name
405280958	CV3190735	single nucleotide variant	NM_016148.5(SHANK1):c.3947G>A (p.Gly1316Asp)	SHANK1-related disorder [RCV003907170]	benign	19	50668013	50668013	Human		name , trait , alternate_id
405279684	CV3191414	single nucleotide variant	NM_016148.5(SHANK1):c.5732A>G (p.Tyr1911Cys)	SHANK1-related disorder [RCV003919572]	likely benign	19	50666228	50666228	Human		name , trait , alternate_id
405272608	CV3201368	single nucleotide variant	NM_016148.5(SHANK1):c.3971G>A (p.Gly1324Glu)	SHANK1-related disorder [RCV003901430]	uncertain significance	19	50667989	50667989	Human		name , trait , alternate_id
405285089	CV3202444	single nucleotide variant	NM_016148.5(SHANK1):c.3629C>A (p.Ser1210Tyr)	SHANK1-related disorder [RCV003909710]\|not provided [RCV004573423]	benign\|likely benign	19	50668331	50668331	Human		name , trait , alternate_id
405274395	CV3211738	single nucleotide variant	NM_016148.5(SHANK1):c.3815T>C (p.Leu1272Pro)	Inborn genetic diseases [RCV004953655]\|SHANK1-related disorder [RCV003951538]	benign\|likely benign	19	50668145	50668145	Human	1	name , trait , alternate_id
405283950	CV3213491	single nucleotide variant	NM_016148.5(SHANK1):c.3989C>G (p.Thr1330Ser)	SHANK1-related disorder [RCV003922072]	benign	19	50667971	50667971	Human		name , trait , alternate_id
405698699	CV3227017	single nucleotide variant	NM_016148.5(SHANK1):c.5468C>T (p.Pro1823Leu)	not provided [RCV003993411]	uncertain significance	19	50666492	50666492	Human		name
405729827	CV3314275	single nucleotide variant	NM_016148.5(SHANK1):c.3592C>G (p.Pro1198Ala)	Inborn genetic diseases [RCV004450860]	uncertain significance	19	50668368	50668368	Human	1	name
405729833	CV3314276	single nucleotide variant	NM_016148.5(SHANK1):c.3707T>G (p.Leu1236Arg)	Inborn genetic diseases [RCV004450861]	uncertain significance	19	50668253	50668253	Human	1	name
405729850	CV3314278	single nucleotide variant	NM_016148.5(SHANK1):c.3878T>G (p.Phe1293Cys)	Inborn genetic diseases [RCV004450863]	likely benign	19	50668082	50668082	Human	1	name
405729858	CV3314279	single nucleotide variant	NM_016148.5(SHANK1):c.3919G>A (p.Gly1307Ser)	Inborn genetic diseases [RCV004450864]	uncertain significance	19	50668041	50668041	Human	1	name
405729866	CV3314280	single nucleotide variant	NM_016148.5(SHANK1):c.4524G>C (p.Arg1508Ser)	Inborn genetic diseases [RCV004450865]	uncertain significance	19	50667436	50667436	Human	1	name
405729873	CV3314281	single nucleotide variant	NM_016148.5(SHANK1):c.4586C>G (p.Pro1529Arg)	Inborn genetic diseases [RCV004450866]	uncertain significance	19	50667374	50667374	Human	1	name
405729882	CV3314282	single nucleotide variant	NM_016148.5(SHANK1):c.4690G>A (p.Val1564Met)	Inborn genetic diseases [RCV004450867]	likely benign	19	50667270	50667270	Human	1	name
405729889	CV3314283	single nucleotide variant	NM_016148.5(SHANK1):c.4759G>A (p.Gly1587Arg)	Inborn genetic diseases [RCV004450868]	uncertain significance	19	50667201	50667201	Human	1	name
405729896	CV3314284	single nucleotide variant	NM_016148.5(SHANK1):c.4955C>T (p.Ala1652Val)	Inborn genetic diseases [RCV004450869]	uncertain significance	19	50667005	50667005	Human	1	name
405729912	CV3314286	single nucleotide variant	NM_016148.5(SHANK1):c.4982C>T (p.Pro1661Leu)	Inborn genetic diseases [RCV004450871]	uncertain significance	19	50666978	50666978	Human	1	name
405729918	CV3314287	single nucleotide variant	NM_016148.5(SHANK1):c.5273G>A (p.Arg1758Gln)	Inborn genetic diseases [RCV004450872]	uncertain significance	19	50666687	50666687	Human	1	name
405729923	CV3314288	single nucleotide variant	NM_016148.5(SHANK1):c.5444C>T (p.Pro1815Leu)	Inborn genetic diseases [RCV004450873]	likely benign	19	50666516	50666516	Human	1	name
405729933	CV3314289	single nucleotide variant	NM_016148.5(SHANK1):c.5485A>C (p.Thr1829Pro)	Inborn genetic diseases [RCV004450874]	uncertain significance	19	50666475	50666475	Human	1	name
405729942	CV3314290	single nucleotide variant	NM_016148.5(SHANK1):c.5740G>A (p.Glu1914Lys)	Inborn genetic diseases [RCV004450875]	likely benign	19	50666220	50666220	Human	1	name
405729946	CV3314291	single nucleotide variant	NM_016148.5(SHANK1):c.5806C>A (p.Pro1936Thr)	Inborn genetic diseases [RCV004450876]	uncertain significance	19	50662645	50662645	Human	1	name
405729954	CV3314292	single nucleotide variant	NM_016148.5(SHANK1):c.5965G>A (p.Glu1989Lys)	Inborn genetic diseases [RCV004450877]	uncertain significance	19	50662486	50662486	Human	1	name
405729961	CV3314293	single nucleotide variant	NM_016148.5(SHANK1):c.6137C>T (p.Ser2046Leu)	Inborn genetic diseases [RCV004450878]	uncertain significance	19	50662314	50662314	Human	1	name
407469358	CV3480404	single nucleotide variant	NM_016148.5(SHANK1):c.4489A>C (p.Asn1497His)	Inborn genetic diseases [RCV004661450]\|not provided [RCV004767668]	uncertain significance	19	50667471	50667471	Human	1	name
407469368	CV3480410	single nucleotide variant	NM_016148.5(SHANK1):c.6221G>A (p.Arg2074His)	Inborn genetic diseases [RCV004661454]	uncertain significance	19	50662230	50662230	Human	1	name
407469371	CV3480411	single nucleotide variant	NM_016148.5(SHANK1):c.4552G>A (p.Val1518Ile)	Inborn genetic diseases [RCV004661455]	uncertain significance	19	50667408	50667408	Human	1	name
407493108	CV3480415	single nucleotide variant	NM_016148.5(SHANK1):c.4297C>G (p.Leu1433Val)	Inborn genetic diseases [RCV004667295]	uncertain significance	19	50667663	50667663	Human	1	name
407493119	CV3480418	single nucleotide variant	NM_016148.5(SHANK1):c.4843C>T (p.Pro1615Ser)	Inborn genetic diseases [RCV004667298]	likely benign	19	50667117	50667117	Human	1	name
407519125	CV3480419	single nucleotide variant	NM_016148.5(SHANK1):c.4933C>A (p.Pro1645Thr)	Inborn genetic diseases [RCV004676350]	uncertain significance	19	50667027	50667027	Human	1	name
407519129	CV3480421	single nucleotide variant	NM_016148.5(SHANK1):c.5261C>A (p.Pro1754His)	Inborn genetic diseases [RCV004676352]	uncertain significance	19	50666699	50666699	Human	1	name
407493123	CV3480422	single nucleotide variant	NM_016148.5(SHANK1):c.5090T>C (p.Leu1697Pro)	Inborn genetic diseases [RCV004667299]	uncertain significance	19	50666870	50666870	Human	1	name
407574565	CV3499576	single nucleotide variant	NM_016148.5(SHANK1):c.4135A>G (p.Arg1379Gly)	not provided [RCV004719572]	uncertain significance	19	50667825	50667825	Human		name
408381664	CV3501990	single nucleotide variant	NM_016148.5(SHANK1):c.3316C>T (p.Arg1106Cys)	not provided [RCV004729518]	uncertain significance	19	50668644	50668644	Human		name
408369060	CV3502735	single nucleotide variant	NM_016148.5(SHANK1):c.5849C>G (p.Pro1950Arg)	not provided [RCV004723856]	uncertain significance	19	50662602	50662602	Human		name
408371083	CV3504776	single nucleotide variant	NM_016148.5(SHANK1):c.3592C>T (p.Pro1198Ser)	SHANK1-related disorder [RCV004724450]	uncertain significance	19	50668368	50668368	Human		name , trait , alternate_id
408379220	CV3506777	single nucleotide variant	NM_016148.5(SHANK1):c.5068A>T (p.Thr1690Ser)	Inborn genetic diseases [RCV004953712]\|SHANK1-related disorder [RCV004728316]	uncertain significance	19	50666892	50666892	Human	1	name , trait , alternate_id
408377298	CV3508415	single nucleotide variant	NM_016148.5(SHANK1):c.6229T>C (p.Ser2077Pro)	Inborn genetic diseases [RCV004968609]\|SHANK1-related disorder [RCV004750659]	uncertain significance	19	50662222	50662222	Human	1	name , trait , alternate_id
408387305	CV3518800	single nucleotide variant	NM_016148.5(SHANK1):c.6143A>T (p.Asp2048Val)	not provided [RCV004761119]	uncertain significance	19	50662308	50662308	Human		name
408389898	CV3519124	single nucleotide variant	NM_016148.5(SHANK1):c.5356A>G (p.Thr1786Ala)	not provided [RCV004762433]	uncertain significance	19	50666604	50666604	Human		name
408385901	CV3520411	single nucleotide variant	NM_016148.5(SHANK1):c.5894C>A (p.Ala1965Asp)	not provided [RCV004760232]	uncertain significance	19	50662557	50662557	Human		name
408387268	CV3524476	single nucleotide variant	NM_016148.5(SHANK1):c.4357C>T (p.Pro1453Ser)	not provided [RCV004768350]	uncertain significance	19	50667603	50667603	Human		name
408389943	CV3524839	single nucleotide variant	NM_016148.5(SHANK1):c.4150C>A (p.Arg1384Ser)	not provided [RCV004769734]	uncertain significance	19	50667810	50667810	Human		name
408392971	CV3528321	single nucleotide variant	NM_016148.5(SHANK1):c.5342C>A (p.Thr1781Asn)	not provided [RCV004776089]	uncertain significance	19	50666618	50666618	Human		name
408389379	CV3529361	single nucleotide variant	NM_016148.5(SHANK1):c.5227C>T (p.Pro1743Ser)	not provided [RCV004774183]	uncertain significance	19	50666733	50666733	Human		name
596923328	CV3530332	single nucleotide variant	NM_016148.5(SHANK1):c.6059T>C (p.Leu2020Pro)	not provided [RCV004776931]	uncertain significance	19	50662392	50662392	Human		name
596924536	CV3532298	single nucleotide variant	NM_016148.5(SHANK1):c.6208T>G (p.Ser2070Ala)	not provided [RCV004777409]	uncertain significance	19	50662243	50662243	Human		name
596927982	CV3532700	single nucleotide variant	NM_016148.5(SHANK1):c.6008T>G (p.Leu2003Arg)	not provided [RCV004778798]	uncertain significance	19	50662443	50662443	Human		name
596922748	CV3537379	single nucleotide variant	NM_016148.5(SHANK1):c.3622C>T (p.Pro1208Ser)	not provided [RCV004787349]	uncertain significance	19	50668338	50668338	Human		name
596948125	CV3549205	single nucleotide variant	NM_016148.5(SHANK1):c.6089C>T (p.Pro2030Leu)	not provided [RCV004812025]	uncertain significance	19	50662362	50662362	Human		name
596946364	CV3550629	single nucleotide variant	NM_016148.5(SHANK1):c.6280C>A (p.Pro2094Thr)	not provided [RCV004819168]	uncertain significance	19	50662171	50662171	Human		name
597708503	CV3602370	single nucleotide variant	NM_016148.5(SHANK1):c.5830T>C (p.Trp1944Arg)	Inborn genetic diseases [RCV004957713]	likely benign	19	50662621	50662621	Human	1	name
597639193	CV3602373	single nucleotide variant	NM_016148.5(SHANK1):c.5230G>A (p.Gly1744Ser)	Inborn genetic diseases [RCV004971141]	likely benign	19	50666730	50666730	Human	1	name
597708523	CV3602374	single nucleotide variant	NM_016148.5(SHANK1):c.3071C>A (p.Pro1024His)	Inborn genetic diseases [RCV004957716]	uncertain significance	19	50668889	50668889	Human	1	name
597708527	CV3602375	single nucleotide variant	NM_016148.5(SHANK1):c.3974G>A (p.Gly1325Asp)	Inborn genetic diseases [RCV004957717]	uncertain significance	19	50667986	50667986	Human	1	name
597708534	CV3602376	single nucleotide variant	NM_016148.5(SHANK1):c.5942G>A (p.Arg1981His)	Inborn genetic diseases [RCV004957718]	likely benign	19	50662509	50662509	Human	1	name
597708541	CV3602378	single nucleotide variant	NM_016148.5(SHANK1):c.4196C>G (p.Ala1399Gly)	Inborn genetic diseases [RCV004957719]	uncertain significance	19	50667764	50667764	Human	1	name
597708547	CV3602379	single nucleotide variant	NM_016148.5(SHANK1):c.5486C>T (p.Thr1829Met)	Inborn genetic diseases [RCV004957720]	uncertain significance	19	50666474	50666474	Human	1	name
597639201	CV3602380	single nucleotide variant	NM_016148.5(SHANK1):c.3430G>A (p.Val1144Met)	Inborn genetic diseases [RCV004971143]	uncertain significance	19	50668530	50668530	Human	1	name
597639207	CV3602383	single nucleotide variant	NM_016148.5(SHANK1):c.5560C>A (p.Pro1854Thr)	Inborn genetic diseases [RCV004971145]	likely benign	19	50666400	50666400	Human	1	name
597708562	CV3602384	single nucleotide variant	NM_016148.5(SHANK1):c.6214G>T (p.Ala2072Ser)	Inborn genetic diseases [RCV004957722]	uncertain significance	19	50662237	50662237	Human	1	name
597708581	CV3602387	single nucleotide variant	NM_016148.5(SHANK1):c.3808G>A (p.Gly1270Ser)	Inborn genetic diseases [RCV004957725]	uncertain significance	19	50668152	50668152	Human	1	name
597708586	CV3602388	single nucleotide variant	NM_016148.5(SHANK1):c.5516C>T (p.Pro1839Leu)	Inborn genetic diseases [RCV004957726]	likely benign	19	50666444	50666444	Human	1	name
597708601	CV3602390	single nucleotide variant	NM_016148.5(SHANK1):c.4918G>A (p.Ala1640Thr)	Inborn genetic diseases [RCV004957728]	uncertain significance	19	50667042	50667042	Human	1	name
597639212	CV3602391	single nucleotide variant	NM_016148.5(SHANK1):c.4802C>G (p.Pro1601Arg)	Inborn genetic diseases [RCV004971146]	likely benign	19	50667158	50667158	Human	1	name
597708620	CV3602394	single nucleotide variant	NM_016148.5(SHANK1):c.4565G>T (p.Ser1522Ile)	Inborn genetic diseases [RCV004957731]	uncertain significance	19	50667395	50667395	Human	1	name
597639216	CV3602395	single nucleotide variant	NM_016148.5(SHANK1):c.4235C>T (p.Pro1412Leu)	Inborn genetic diseases [RCV004971147]	uncertain significance	19	50667725	50667725	Human	1	name
597708625	CV3602396	single nucleotide variant	NM_016148.5(SHANK1):c.5585C>T (p.Ala1862Val)	Inborn genetic diseases [RCV004957732]	uncertain significance	19	50666375	50666375	Human	1	name
597708630	CV3602397	single nucleotide variant	NM_016148.5(SHANK1):c.4262G>C (p.Gly1421Ala)	Inborn genetic diseases [RCV004957733]	uncertain significance	19	50667698	50667698	Human	1	name
597639218	CV3602398	single nucleotide variant	NM_016148.5(SHANK1):c.3185C>T (p.Pro1062Leu)	Inborn genetic diseases [RCV004971148]	uncertain significance	19	50668775	50668775	Human	1	name
597639225	CV3602401	single nucleotide variant	NM_016148.5(SHANK1):c.5395G>T (p.Ala1799Ser)	Inborn genetic diseases [RCV004971150]	uncertain significance	19	50666565	50666565	Human	1	name
597639227	CV3602403	single nucleotide variant	NM_016148.5(SHANK1):c.4945G>C (p.Gly1649Arg)	Inborn genetic diseases [RCV004971151]	uncertain significance	19	50667015	50667015	Human	1	name
597639232	CV3602404	single nucleotide variant	NM_016148.5(SHANK1):c.4313C>T (p.Pro1438Leu)	Inborn genetic diseases [RCV004971152]	uncertain significance	19	50667647	50667647	Human	1	name
597639237	CV3602406	single nucleotide variant	NM_016148.5(SHANK1):c.5762G>A (p.Arg1921Gln)	Inborn genetic diseases [RCV004971153]	uncertain significance	19	50666198	50666198	Human	1	name
597639243	CV3602408	single nucleotide variant	NM_016148.5(SHANK1):c.4747C>T (p.Pro1583Ser)	Inborn genetic diseases [RCV004971155]	uncertain significance	19	50667213	50667213	Human	1	name
597708661	CV3602411	single nucleotide variant	NM_016148.5(SHANK1):c.4358C>T (p.Pro1453Leu)	Inborn genetic diseases [RCV004957738]	uncertain significance	19	50667602	50667602	Human	1	name
597708673	CV3602413	single nucleotide variant	NM_016148.5(SHANK1):c.4016T>C (p.Val1339Ala)	Inborn genetic diseases [RCV004957740]	uncertain significance	19	50667944	50667944	Human	1	name
597639254	CV3602416	single nucleotide variant	NM_016148.5(SHANK1):c.3430G>C (p.Val1144Leu)	Inborn genetic diseases [RCV004971158]	uncertain significance	19	50668530	50668530	Human	1	name
597708685	CV3602418	single nucleotide variant	NM_016148.5(SHANK1):c.5374G>T (p.Ala1792Ser)	Inborn genetic diseases [RCV004957742]	uncertain significance	19	50666586	50666586	Human	1	name
597639262	CV3602419	single nucleotide variant	NM_016148.5(SHANK1):c.6121G>A (p.Gly2041Arg)	Inborn genetic diseases [RCV004971160]	uncertain significance	19	50662330	50662330	Human	1	name
597639264	CV3602420	single nucleotide variant	NM_016148.5(SHANK1):c.3436G>T (p.Ala1146Ser)	Inborn genetic diseases [RCV004971161]	uncertain significance	19	50668524	50668524	Human	1	name
597708697	CV3602422	single nucleotide variant	NM_016148.5(SHANK1):c.4410C>G (p.His1470Gln)	Inborn genetic diseases [RCV004957744]	uncertain significance	19	50667550	50667550	Human	1	name
597854797	CV3762580	single nucleotide variant	NM_016148.5(SHANK1):c.6043C>T (p.Pro2015Ser)	not specified [RCV005088498]	uncertain significance	19	50662408	50662408	Human		name
598126279	CV3881848	single nucleotide variant	NM_016148.5(SHANK1):c.4208C>G (p.Pro1403Arg)	not provided [RCV005233400]	uncertain significance	19	50667752	50667752	Human		name
598201520	CV3892800	single nucleotide variant	NM_016148.5(SHANK1):c.4609A>G (p.Ser1537Gly)	not provided [RCV005254633]	uncertain significance	19	50667351	50667351	Human		name
598240986	CV3917927	single nucleotide variant	NM_016148.5(SHANK1):c.5533G>A (p.Gly1845Ser)	Inborn genetic diseases [RCV005276269]	likely benign	19	50666427	50666427	Human	1	name
598240997	CV3917929	single nucleotide variant	NM_016148.5(SHANK1):c.3893A>G (p.Tyr1298Cys)	Inborn genetic diseases [RCV005276271]	uncertain significance	19	50668067	50668067	Human	1	name
598241002	CV3917930	single nucleotide variant	NM_016148.5(SHANK1):c.3097G>A (p.Asp1033Asn)	Inborn genetic diseases [RCV005276272]	uncertain significance	19	50668863	50668863	Human	1	name
598241012	CV3917932	single nucleotide variant	NM_016148.5(SHANK1):c.5531C>T (p.Pro1844Leu)	Inborn genetic diseases [RCV005276274]	uncertain significance	19	50666429	50666429	Human	1	name
598241017	CV3917933	single nucleotide variant	NM_016148.5(SHANK1):c.5327T>C (p.Leu1776Pro)	Inborn genetic diseases [RCV005276275]	likely benign	19	50666633	50666633	Human	1	name
598199104	CV3917937	single nucleotide variant	NM_016148.5(SHANK1):c.6481A>G (p.Arg2161Gly)	Inborn genetic diseases [RCV005268347]	uncertain significance	19	50661970	50661970	Human	1	name
598241042	CV3917939	single nucleotide variant	NM_016148.5(SHANK1):c.4127C>T (p.Pro1376Leu)	Inborn genetic diseases [RCV005276280]	uncertain significance	19	50667833	50667833	Human	1	name
598241047	CV3917940	single nucleotide variant	NM_016148.5(SHANK1):c.4289A>G (p.Glu1430Gly)	Inborn genetic diseases [RCV005276281]	uncertain significance	19	50667671	50667671	Human	1	name
598199112	CV3917944	single nucleotide variant	NM_016148.5(SHANK1):c.3161G>A (p.Gly1054Glu)	Inborn genetic diseases [RCV005268348]	uncertain significance	19	50668799	50668799	Human	1	name
598241065	CV3917945	single nucleotide variant	NM_016148.5(SHANK1):c.3970G>A (p.Gly1324Arg)	Inborn genetic diseases [RCV005276285]	uncertain significance	19	50667990	50667990	Human	1	name
598241068	CV3917946	single nucleotide variant	NM_016148.5(SHANK1):c.3202G>C (p.Gly1068Arg)	Inborn genetic diseases [RCV005276286]	uncertain significance	19	50668758	50668758	Human	1	name
598241073	CV3917947	single nucleotide variant	NM_016148.5(SHANK1):c.4330C>G (p.Leu1444Val)	Inborn genetic diseases [RCV005276287]	uncertain significance	19	50667630	50667630	Human	1	name
598241078	CV3917948	single nucleotide variant	NM_016148.5(SHANK1):c.4574G>T (p.Arg1525Leu)	Inborn genetic diseases [RCV005276288]	uncertain significance	19	50667386	50667386	Human	1	name
616935082	CV4009291	single nucleotide variant	NM_016148.5(SHANK1):c.5930C>G (p.Ser1977Cys)	not provided [RCV005402463]	uncertain significance	19	50662521	50662521	Human		name
616937778	CV4013008	single nucleotide variant	NM_016148.5(SHANK1):c.3143G>C (p.Arg1048Pro)	not provided [RCV005410474]	uncertain significance	19	50668817	50668817	Human		name
616937527	CV4013494	single nucleotide variant	NM_016148.5(SHANK1):c.4714G>T (p.Glu1572Ter)	Intellectual disability [RCV005411057]	likely pathogenic	19	50667246	50667246	Human	2	name
616937729	CV4014892	single nucleotide variant	NM_016148.5(SHANK1):c.6200G>A (p.Gly2067Glu)	not provided [RCV005411908]	uncertain significance	19	50662251	50662251	Human		name
617154289	CV4022751	single nucleotide variant	NM_016148.5(SHANK1):c.4646C>T (p.Pro1549Leu)	Complex neurodevelopmental disorder [RCV005430102]	uncertain significance	19	50667314	50667314	Human	1	name
15143158	CV717972	single nucleotide variant	NM_016148.5(SHANK1):c.4415G>T (p.Gly1472Val)	not provided [RCV000966618]	benign	19	50667545	50667545	Human		name
15120656	CV717973	single nucleotide variant	NM_016148.5(SHANK1):c.4847C>A (p.Thr1616Asn)	SHANK1-related disorder [RCV003978391]\|not provided [RCV000962756]	benign	19	50667113	50667113	Human		name , trait , alternate_id
15199311	CV729832	single nucleotide variant	NM_016148.5(SHANK1):c.5420C>T (p.Pro1807Leu)	not provided [RCV000890600]	likely benign	19	50666540	50666540	Human		name
15159225	CV743568	single nucleotide variant	NM_016148.5(SHANK1):c.5387G>A (p.Gly1796Glu)	SHANK1-related disorder [RCV003912894]\|not provided [RCV000902892]	benign\|likely benign	19	50666573	50666573	Human		name , trait , alternate_id
15162004	CV743570	single nucleotide variant	NM_016148.5(SHANK1):c.5888C>G (p.Ala1963Gly)	SHANK1-related disorder [RCV003912904]\|not provided [RCV000903464]	likely benign	19	50662563	50662563	Human		name , trait , alternate_id
15154264	CV743571	single nucleotide variant	NM_016148.5(SHANK1):c.6271G>T (p.Gly2091Cys)	SHANK1-related disorder [RCV003922984]\|not provided [RCV000901921]	benign	19	50662180	50662180	Human		name , trait , alternate_id
28882441	CV860602	single nucleotide variant	NM_016148.5(SHANK1):c.6361G>A (p.Asp2121Asn)	not provided [RCV001091262]	uncertain significance	19	50662090	50662090	Human		name
38467631	CV920110	single nucleotide variant	NM_016148.5(SHANK1):c.5471C>T (p.Pro1824Leu)	See cases [RCV001198459]	uncertain significance	19	50666489	50666489	Human		name
40814270	CV967009	single nucleotide variant	NM_016148.5(SHANK1):c.5690G>T (p.Gly1897Val)	Intellectual disability [RCV001257738]	likely benign	19	50666270	50666270	Human	2	name
155919451	CV2279420	microsatellite	NM_016148.5(SHANK1):c.2990ACC[2] (p.His999del)	Inborn genetic diseases [RCV002859452]	uncertain significance	19	50668962	50668964	Human		name
155643078	CV1706519	deletion	NM_016148.5(SHANK1):c.1882_1883del (p.Lys628fs)	Intellectual disability [RCV002287592]	likely pathogenic	19	50697643	50697644	Human	2	name
405272149	CV3203105	indel	NM_016148.5(SHANK1):c.2397delinsAA (p.Gln800fs)	SHANK1-related disorder [RCV003914151]	likely pathogenic	19	50686805	50686805	Human		name , trait , alternate_id
616936590	CV4016496	microsatellite	NM_016148.5(SHANK1):c.2741_2742del (p.Val914fs)	Complex neurodevelopmental disorder [RCV005415363]	likely pathogenic	19	50669218	50669219	Human		name
596925996	CV3536052	duplication	NM_016148.5(SHANK1):c.4337_4343dup (p.Thr1451fs)	Neurodevelopmental disorder [RCV004788482]	likely pathogenic	19	50667616	50667617	Human	1	name
405271909	CV3203038	deletion	NM_016148.5(SHANK1):c.5285_5308del (p.Leu1762_Arg1769del)	SHANK1-related disorder [RCV003914090]	likely benign	19	50666652	50666675	Human		name , trait , alternate_id
407572686	CV3497168	deletion	NM_016148.5(SHANK1):c.3276_3281del (p.Ser1093_Ala1094del)	not provided [RCV004698988]	uncertain significance	19	50668679	50668684	Human		name
408377131	CV3507325	duplication	NM_016148.5(SHANK1):c.6259_6267dup (p.Pro2089_Phe2090insAspLysPro)	SHANK1-related disorder [RCV004750518]	uncertain significance	19	50662183	50662184	Human		name , trait , alternate_id
156341153	CV1898808	microsatellite	NM_016148.5(SHANK1):c.3004CAC[11] (p.His1007_Ala1008insHisHisHisHisHis)	not provided [RCV003090370]	uncertain significance	19	50668938	50668939	Human		name
408387952	CV3527285	duplication	NM_016148.5(SHANK1):c.2999_3016dup (p.His1005_His1006insProProHisHisHisHis)	not provided [RCV004773587]	uncertain significance	19	50668943	50668944	Human		name

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