VAT1[gene] - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	ABCA10, ADAM11 +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC130060795, LOC130060796 +1753 more	Copy number gain	See cases	GPathogenic
Select item 58696	GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3	AARSD1, ACBD4 +633 more	Copy number gain	See cases	GPathogenic
Select item 3188255	NM_006373.4(VAT1):c.1134G>T (p.Lys378Asn)	VAT1 (K378N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457169	NM_006373.4(VAT1):c.1049A>G (p.Asn350Ser)	VAT1 (N350S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2518801	NM_006373.4(VAT1):c.961C>T (p.Arg321Trp)	VAT1 (R321W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188259	NM_006373.4(VAT1):c.959A>G (p.Asn320Ser)	VAT1 (N320S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382864	NM_006373.4(VAT1):c.931G>A (p.Val311Met)	VAT1 (V311M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277182	NM_006373.4(VAT1):c.847G>A (p.Val283Ile)	VAT1 (V283I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293289	NM_006373.4(VAT1):c.815G>C (p.Gly272Ala)	VAT1 (G272A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220858	NM_006373.4(VAT1):c.678C>A (p.His226Gln)	VAT1 (H226Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354077	NM_006373.4(VAT1):c.637G>A (p.Glu213Lys)	VAT1 (E213K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233584	NM_006373.4(VAT1):c.628C>T (p.Arg210Cys)	VAT1 (R210C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188257	NM_006373.4(VAT1):c.217G>A (p.Ala73Thr)	VAT1 (A73T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455712	NM_006373.4(VAT1):c.161C>T (p.Thr54Ile)	VAT1 (T54I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188256	NM_006373.4(VAT1):c.127G>C (p.Ala43Pro)	VAT1 (A43P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 732474	NM_006373.4(VAT1):c.115G>A (p.Ala39Thr)	VAT1 (A39T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2313378	NM_006373.4(VAT1):c.97G>T (p.Ala33Ser)	VAT1 (A33S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188258	NM_006373.4(VAT1):c.44A>T (p.Asp15Val)	VAT1 (D15V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280853	NM_006373.4(VAT1):c.38G>A (p.Gly13Glu)	VAT1 (G13E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226880	NM_006373.4(VAT1):c.37G>A (p.Gly13Arg)	VAT1 (G13R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809350	GRCh37/hg19 17q21.31(chr17:41105913-41307101)x3	AARSD1, BRCA1 +8 more	Copy number gain	not provided	GUncertain significance
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	TNFSF12, TNFSF12-TNFSF13 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	AIPL1, AKAP1 +1143 more	Copy number gain	See cases	GPathogenic

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Items: 24