Related gene-specific medical variations for Gene (Select 7407) - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 2656428	NM_006295.3(VARS1):c.579G>A (p.Thr193=)	LOC126859651, VARS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2571706	NM_006295.3(VARS1):c.638C>T (p.Ala213Val)	LOC126859651, VARS1 (A213V)	Single nucleotide variant (missense variant)	not provided	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 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 2200634	NM_006295.3(VARS1):c.662-2A>C	LOC126859651, VARS1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1678265	NM_006295.3(VARS1):c.673C>T (p.Pro225Ser)	LOC126859651, VARS1 (P225S)	Single nucleotide variant (missense variant)	not provided	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 1184291	NM_006295.3(VARS1):c.3115C>T (p.Gln1039Ter)	VARS1 (Q1039*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy	GLikely pathogenic
Select item 1031628	NM_006295.3(VARS1):c.721C>T (p.Arg241Trp)	LOC126859651, VARS1 (R241W)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy	GUncertain significance
Select item 1029032	NM_006295.3(VARS1):c.611T>C (p.Leu204Pro)	LOC126859651, VARS1 (L204P)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy	GUncertain significance
Select item 784496	NM_006295.3(VARS1):c.541C>T (p.Arg181Cys)	LOC126859651, VARS1 (R181C)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 776123	NM_006295.3(VARS1):c.666C>T (p.Pro222=)	LOC126859651, VARS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 709046	NM_006295.3(VARS1):c.502T>C (p.Leu168=)	LOC126859651, VARS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 708431	NM_006295.3(VARS1):c.523-3del	LOC126859651, VARS1	Deletion (intron variant)	not provided	GBenign
Select item 708430	NM_006295.3(VARS1):c.542G>A (p.Arg181His)	LOC126859651, VARS1 (R181H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 708429	NM_006295.3(VARS1):c.858C>T (p.Pro286=)	LOC126859651, VARS1	Single nucleotide variant (synonymous variant)	not provided	GBenign

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Links from Gene

Items: 30