ClinVar for Gene (Select 7407) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3376811	NM_006295.3(VARS1):c.1603del (p.Thr535fs)	VARS1 (T535fs)	Deletion (frameshift variant)	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy	GPathogenic
Select item 3376279	NM_006295.3(VARS1):c.1852del (p.Arg618fs)	VARS1 (R618fs)	Deletion (frameshift variant)	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy	GLikely pathogenic
Select item 3340474	NM_006295.3(VARS1):c.614_616del (p.Gly205del)	LOC126859651, VARS1 (G205del)	Deletion	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy	GLikely pathogenic
Select item 3340363	NM_006295.3(VARS1):c.871+1G>C	LOC126859651, VARS1	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 3340106	NM_006295.3(VARS1):c.3203C>A (p.Thr1068Lys)	VARS1 (T1068K)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy	GLikely pathogenic
Select item 3336351	NM_006295.3(VARS1):c.787-2A>G	LOC126859651, VARS1	Single nucleotide variant (splice acceptor variant)	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy	GLikely pathogenic
Select item 3331851	NM_006295.3(VARS1):c.163C>G (p.Pro55Ala)	VARS1 (P55A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3331850	NM_006295.3(VARS1):c.1492C>T (p.Arg498Cys)	VARS1 (R498C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3331849	NM_006295.3(VARS1):c.59T>A (p.Ile20Lys)	VARS1 (I20K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3331848	NM_006295.3(VARS1):c.3332C>T (p.Ala1111Val)	VARS1 (A1111V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3331847	NM_006295.3(VARS1):c.1433C>T (p.Ser478Phe)	VARS1 (S478F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3331846	NM_006295.3(VARS1):c.1015A>T (p.Met339Leu)	VARS1 (M339L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3251797	NM_006295.3(VARS1):c.1137del (p.Gly380fs)	VARS1 (G380fs)	Deletion (frameshift variant)	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy	GPathogenic
Select item 3246239	NC_000006.11:g.(?_31620520)_(31937492_?)del	ABHD16A, APOM +28 more	Deletion	not provided	GUncertain significance
Select item 3246158	NC_000006.11:g.(?_31631971)_(31895135_?)del	ABHD16A, C2 +23 more	Deletion	not provided	GPathogenic
Select item 3236664	NM_006295.3(VARS1):c.3203C>T (p.Thr1068Met)	VARS1 (T1068M)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy	GConflicting classifications of pathogenicity
Select item 3236663	NM_006295.3(VARS1):c.1031C>A (p.Pro344His)	VARS1 (P344H)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy	GUncertain significance
Select item 3188199	NM_006295.3(VARS1):c.755A>T (p.Lys252Met)	LOC126859651, VARS1 (K252M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3188197	NM_006295.3(VARS1):c.657G>T (p.Gln219His)	LOC126859651, VARS1 (Q219H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3188196	NM_006295.3(VARS1):c.656A>T (p.Gln219Leu)	LOC126859651, VARS1 (Q219L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3188195	NM_006295.3(VARS1):c.626T>C (p.Leu209Pro)	LOC126859651, VARS1 (L209P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3188194	NM_006295.3(VARS1):c.565C>T (p.Arg189Cys)	LOC126859651, VARS1 (R189C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3188193	NM_006295.3(VARS1):c.545G>A (p.Arg182Gln)	LOC126859651, VARS1 (R182Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3188192	NM_006295.3(VARS1):c.457G>T (p.Ala153Ser)	LOC126859651, VARS1 (A153S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3188191	NM_006295.3(VARS1):c.432G>C (p.Glu144Asp)	LOC126859651, VARS1 (E144D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3188190	NM_006295.3(VARS1):c.421C>T (p.Pro141Ser)	LOC126859651, VARS1 (P141S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3188189	NM_006295.3(VARS1):c.3706C>T (p.Gln1236Ter)	VARS1 (Q1236*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GUncertain significance
Select item 3188188	NM_006295.3(VARS1):c.3596G>A (p.Arg1199Gln)	VARS1 (R1199Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3188187	NM_006295.3(VARS1):c.3595C>T (p.Arg1199Trp)	VARS1 (R1199W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3188186	NM_006295.3(VARS1):c.3392G>C (p.Arg1131Pro)	VARS1 (R1131P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3188185	NM_006295.3(VARS1):c.3362T>C (p.Leu1121Pro)	VARS1 (L1121P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3188184	NM_006295.3(VARS1):c.3137G>A (p.Arg1046His)	VARS1 (R1046H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3188183	NM_006295.3(VARS1):c.3028G>A (p.Val1010Ile)	VARS1 (V1010I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3188182	NM_006295.3(VARS1):c.3024G>A (p.Pro1008=)	VARS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3188181	NM_006295.3(VARS1):c.3016G>A (p.Asp1006Asn)	VARS1 (D1006N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3188180	NM_006295.3(VARS1):c.2996A>G (p.Asn999Ser)	VARS1 (N999S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3188179	NM_006295.3(VARS1):c.2969G>A (p.Arg990His)	VARS1 (R990H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3188178	NM_006295.3(VARS1):c.2884C>T (p.Arg962Cys)	VARS1 (R962C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3188177	NM_006295.3(VARS1):c.2767C>T (p.Arg923Trp)	VARS1 (R923W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3188176	NM_006295.3(VARS1):c.275C>T (p.Ala92Val)	VARS1 (A92V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3188175	NM_006295.3(VARS1):c.2740A>T (p.Ile914Phe)	VARS1 (I914F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3188174	NM_006295.3(VARS1):c.2689A>C (p.Ser897Arg)	VARS1 (S897R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3188173	NM_006295.3(VARS1):c.2638A>G (p.Ile880Val)	VARS1 (I880V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3188172	NM_006295.3(VARS1):c.2549A>G (p.Tyr850Cys)	VARS1 (Y850C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3188171	NM_006295.3(VARS1):c.2544+4C>T	VARS1	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 3188170	NM_006295.3(VARS1):c.2506C>G (p.Leu836Val)	VARS1 (L836V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3188169	NM_006295.3(VARS1):c.2432G>C (p.Ser811Thr)	VARS1 (S811T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3188168	NM_006295.3(VARS1):c.2282C>T (p.Ala761Val)	VARS1 (A761V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3188167	NM_006295.3(VARS1):c.2273G>A (p.Arg758His)	VARS1 (R758H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3188166	NM_006295.3(VARS1):c.2267G>C (p.Ser756Thr)	VARS1 (S756T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3188165	NM_006295.3(VARS1):c.2243A>T (p.Asp748Val)	VARS1 (D748V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3188164	NM_006295.3(VARS1):c.2225C>T (p.Ala742Val)	VARS1 (A742V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3188163	NM_006295.3(VARS1):c.2219_2241+49del	VARS1	Deletion (splice donor variant)	Inborn genetic diseases	GUncertain significance
Select item 3188162	NM_006295.3(VARS1):c.2143A>G (p.Asn715Asp)	VARS1 (N715D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3188161	NM_006295.3(VARS1):c.2111C>T (p.Ala704Val)	VARS1 (A704V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3188160	NM_006295.3(VARS1):c.1822G>A (p.Gly608Arg)	VARS1 (G608R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3188159	NM_006295.3(VARS1):c.1781C>T (p.Pro594Leu)	VARS1 (P594L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3188158	NM_006295.3(VARS1):c.175G>T (p.Ala59Ser)	VARS1 (A59S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3188157	NM_006295.3(VARS1):c.1577-6C>T	VARS1	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 3188156	NM_006295.3(VARS1):c.1546G>A (p.Val516Met)	VARS1 (V516M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3188155	NM_006295.3(VARS1):c.1501C>T (p.Leu501Phe)	VARS1 (L501F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3188154	NM_006295.3(VARS1):c.1448C>T (p.Ser483Phe)	VARS1 (S483F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3188153	NM_006295.3(VARS1):c.1213C>T (p.His405Tyr)	VARS1 (H405Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3188152	NM_006295.3(VARS1):c.1112G>T (p.Arg371Leu)	VARS1 (R371L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3188151	NM_006295.3(VARS1):c.1094C>T (p.Thr365Ile)	VARS1 (T365I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3188150	NM_006295.3(VARS1):c.1045T>C (p.Ser349Pro)	VARS1 (S349P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3065476	NM_006295.3(VARS1):c.1783G>A (p.Ala595Thr)	VARS1 (A595T)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy	GUncertain significance
Select item 3057932	NM_006295.3(VARS1):c.219G>A (p.Thr73=)	VARS1	Single nucleotide variant (synonymous variant)	VARS1-related disorder	GLikely benign
Select item 3055851	NM_006295.3(VARS1):c.2625C>T (p.Asp875=)	VARS1	Single nucleotide variant (synonymous variant)	VARS1-related disorder	GBenign
Select item 3053017	NM_006295.3(VARS1):c.2348-8TC[2]	VARS1	Microsatellite (intron variant)	VARS1-related disorder	GLikely benign
Select item 3052046	NM_006295.3(VARS1):c.2719-5T>C	VARS1	Single nucleotide variant (intron variant)	VARS1-related disorder	GLikely benign
Select item 3051075	NM_006295.3(VARS1):c.1263G>A (p.Glu421=)	VARS1	Single nucleotide variant (synonymous variant)	VARS1-related disorder	GLikely benign
Select item 3048277	NM_006295.3(VARS1):c.5C>G (p.Ser2Cys)	VARS1 (S2C)	Single nucleotide variant (missense variant)	VARS1-related disorder	GLikely benign
Select item 3046781	NM_006295.3(VARS1):c.222T>C (p.Ala74=)	VARS1	Single nucleotide variant (synonymous variant)	VARS1-related disorder	GLikely benign
Select item 3046213	NM_006295.3(VARS1):c.891C>T (p.Pro297=)	VARS1	Single nucleotide variant (synonymous variant)	VARS1-related disorder	GLikely benign
Select item 3045730	NM_006295.3(VARS1):c.3649C>T (p.Arg1217Cys)	VARS1 (R1217C)	Single nucleotide variant (missense variant)	VARS1-related disorder	GBenign
Select item 3040947	NM_006295.3(VARS1):c.3522G>C (p.Gln1174His)	VARS1 (Q1174H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3035894	NM_006295.3(VARS1):c.2070C>T (p.Ser690=)	VARS1	Single nucleotide variant (synonymous variant)	VARS1-related disorder	GLikely benign
Select item 3035804	NM_006295.3(VARS1):c.2150+3G>A	VARS1	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 3026783	NM_006295.3(VARS1):c.2272C>A (p.Arg758Ser)	VARS1 (R758S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3025324	NM_006295.3(VARS1):c.135C>T (p.Pro45=)	VARS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2691776	NM_006295.3(VARS1):c.2590_2592delinsTGA (p.Ser864Ter)	VARS1 (S864*)	Indel (nonsense)	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy	GLikely pathogenic
Select item 2691775	NM_006295.3(VARS1):c.3288G>T (p.Glu1096Asp)	VARS1 (E1096D)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy	GUncertain significance
Select item 2662923	NM_006295.3(VARS1):c.2119C>T (p.Arg707Cys)	VARS1 (R707C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2662648	NM_006295.3(VARS1):c.2597C>G (p.Ser866Cys)	VARS1 (S866C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2662032	NM_006295.3(VARS1):c.2758G>A (p.Asp920Asn)	VARS1 (D920N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2656428	NM_006295.3(VARS1):c.579G>A (p.Thr193=)	LOC126859651, VARS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2656427	NM_006295.3(VARS1):c.1389C>T (p.His463=)	VARS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2656426	NM_006295.3(VARS1):c.1701A>G (p.Pro567=)	VARS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2656425	NM_006295.3(VARS1):c.1878G>A (p.Pro626=)	VARS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2656424	NM_006295.3(VARS1):c.1998G>A (p.Ser666=)	VARS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2656423	NM_006295.3(VARS1):c.3162C>T (p.Asp1054=)	VARS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2656422	NM_006295.3(VARS1):c.3336A>G (p.Leu1112=)	VARS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2656421	NM_006295.3(VARS1):c.3346C>A (p.Arg1116=)	VARS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2656420	NM_006295.3(VARS1):c.3417G>A (p.Ala1139=)	VARS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2656419	NM_006295.3(VARS1):c.3579G>A (p.Gly1193=)	VARS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2656418	NM_006295.3(VARS1):c.3591T>G (p.Pro1197=)	VARS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2637807	NM_006295.3(VARS1):c.2169G>C (p.Arg723Ser)	VARS1 (R723S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2637806	NM_006295.3(VARS1):c.1467+19C>T	VARS1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 2627112	NM_006295.3(VARS1):c.3182C>T (p.Ser1061Leu)	VARS1 (S1061L)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy	GLikely pathogenic

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