VAT1[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic
Select item 58696	GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3	LOC130060786, LOC130060787 +633 more	Copy number gain	See cases	GPathogenic
Select item 3331877	NM_006373.4(VAT1):c.1153C>G (p.Leu385Val)	VAT1 (L385V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3331875	NM_006373.4(VAT1):c.398G>A (p.Arg133Gln)	VAT1 (R133Q)	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 3331876	NM_006373.4(VAT1):c.163G>A (p.Gly55Ser)	VAT1 (G55S)	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 3243127	NC_000017.10:g.(?_41154670)_(41277500_?)dup	BRCA1, IFI35 +3 more	Duplication	not provided	GUncertain significance
Select item 3242217	GRCh37/hg19 17q12-22(chr17:41196270-41277589)	SLC4A1, DCAKD +422 more	Copy number loss	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
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	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 29