"Ambry Genetics"[submitter] AND "VARS1"[gene] - ClinVar

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Items: 77

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2454790	NM_006295.3(VARS1):c.3664C>T (p.Arg1222Cys)	VARS1 (R1222C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1029029	NM_006295.3(VARS1):c.3623G>A (p.Arg1208Gln)	VARS1 (R1208Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	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 2548505	NM_006295.3(VARS1):c.3575A>G (p.Gln1192Arg)	VARS1 (Q1192R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3040947	NM_006295.3(VARS1):c.3522G>C (p.Gln1174His)	VARS1 (Q1174H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	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 1031625	NM_006295.3(VARS1):c.3386G>A (p.Arg1129Gln)	VARS1 (R1129Q)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy +1 more	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 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 2518433	NM_006295.3(VARS1):c.2626G>A (p.Val876Ile)	VARS1 (V876I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2532814	NM_006295.3(VARS1):c.2258A>G (p.Tyr753Cys)	VARS1 (Y753C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1199212	NM_006295.3(VARS1):c.2254C>T (p.Arg752Trp)	VARS1 (R752W)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy +2 more	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 3188163	NM_006295.3(VARS1):c.2219_2241+49del	VARS1	Deletion (splice donor 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 2601807	NM_006295.3(VARS1):c.2189G>A (p.Arg730His)	VARS1 (R730H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3035804	NM_006295.3(VARS1):c.2150+3G>A	VARS1	Single nucleotide variant (intron variant)	VARS1-related condition +1 more	GConflicting classifications of pathogenicity
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 1695154	NM_006295.3(VARS1):c.1853G>A (p.Arg618Gln)	VARS1 (R618Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	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 2524474	NM_006295.3(VARS1):c.1716C>A (p.Ser572Arg)	VARS1 (S572R)	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 2603396	NM_006295.3(VARS1):c.1418G>A (p.Arg473His)	VARS1 (R473H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 561997	NM_006295.3(VARS1):c.1325G>A (p.Arg442Gln)	VARS1 (R442Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2484606	NM_006295.3(VARS1):c.1287C>G (p.His429Gln)	VARS1 (H429Q)	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 561996	NM_006295.3(VARS1):c.1199A>C (p.Gln400Pro)	VARS1 (Q400P)	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 2520155	NM_006295.3(VARS1):c.1112G>A (p.Arg371His)	VARS1 (R371H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2537158	NM_006295.3(VARS1):c.1097G>A (p.Arg366Gln)	VARS1 (R366Q)	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 2492821	NM_006295.3(VARS1):c.1075G>A (p.Ala359Thr)	VARS1 (A359T)	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 1004093	NM_006295.3(VARS1):c.1031C>G (p.Pro344Arg)	VARS1 (P344R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1184292	NM_006295.3(VARS1):c.972+3G>A	VARS1	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy +1 more	GUncertain significance
Select item 1305253	NM_006295.3(VARS1):c.859G>A (p.Gly287Arg)	LOC126859651, VARS1 (G287R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2489028	NM_006295.3(VARS1):c.773C>T (p.Pro258Leu)	LOC126859651, VARS1 (P258L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2476343	NM_006295.3(VARS1):c.602G>A (p.Arg201Gln)	LOC126859651, VARS1 (R201Q)	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 3188176	NM_006295.3(VARS1):c.275C>T (p.Ala92Val)	VARS1 (A92V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1679645	NM_006295.3(VARS1):c.275C>G (p.Ala92Gly)	VARS1 (A92G)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy +1 more	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 624231	NM_006295.3(VARS1):c.47T>G (p.Leu16Arg)	VARS1 (L16R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1031624	NM_006295.3(VARS1):c.32A>C (p.Asp11Ala)	VARS1 (D11A)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy +1 more	GUncertain significance
Select item 1029025	NM_006295.3(VARS1):c.20C>T (p.Ser7Phe)	VARS1 (S7F)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy +1 more	GUncertain significance

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Items: 77