"Ambry Genetics"[submitter] AND "VWA1"[gene] - ClinVar

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Search results

Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2278711	NM_022834.5(VWA1):c.55C>T (p.Arg19Trp)	VWA1 (R19W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189225	NM_022834.5(VWA1):c.86C>T (p.Ser29Leu)	VWA1 (S29L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3189226	NM_022834.5(VWA1):c.89C>T (p.Ala30Val)	VWA1 (A30V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2487490	NM_022834.5(VWA1):c.133G>A (p.Val45Ile)	VWA1 (V45I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3189217	NM_022834.5(VWA1):c.199G>A (p.Gly67Ser)	VWA1 (G67S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2270417	NM_022834.5(VWA1):c.200G>A (p.Gly67Asp)	VWA1 (G67D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2683688	NM_022834.5(VWA1):c.205G>A (p.Gly69Arg)	VWA1 (G69R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2330900	NM_022834.5(VWA1):c.265G>T (p.Gly89Cys)	VWA1 (G89C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2291595	NM_022834.5(VWA1):c.287C>T (p.Ala96Val)	VWA1 (A96V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2515393	NM_022834.5(VWA1):c.305G>A (p.Arg102His)	VWA1 (R102H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2406803	NM_022834.5(VWA1):c.305G>C (p.Arg102Pro)	VWA1 (R102P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2300741	NM_022834.5(VWA1):c.350T>G (p.Leu117Arg)	VWA1 (L117R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3189218	NM_022834.5(VWA1):c.395G>A (p.Arg132Gln)	VWA1 (R132Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2392318	NM_022834.5(VWA1):c.457C>T (p.Pro153Ser)	VWA1 (P153S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2488333	NM_022834.5(VWA1):c.469G>A (p.Glu157Lys)	VWA1 (G25E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289885	NM_022834.5(VWA1):c.521A>G (p.Asn174Ser)	VWA1 (N174S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2478457	NM_022834.5(VWA1):c.548C>T (p.Ser183Leu)	VWA1 (S183L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3189219	NM_022834.5(VWA1):c.559G>A (p.Glu187Lys)	VWA1 (E187K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189220	NM_022834.5(VWA1):c.628C>T (p.Leu210Phe)	VWA1 (L210F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2470762	NM_022834.5(VWA1):c.656A>G (p.His219Arg)	VWA1 (H219R)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2346761	NM_022834.5(VWA1):c.686G>A (p.Arg229His)	VWA1 (R229H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3189221	NM_022834.5(VWA1):c.697C>T (p.Pro233Ser)	VWA1 (P233S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3189222	NM_022834.5(VWA1):c.712G>A (p.Ala238Thr)	VWA1 (A238T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2522097	NM_022834.5(VWA1):c.725A>G (p.Tyr242Cys)	VWA1 (Y242C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3189223	NM_022834.5(VWA1):c.760G>A (p.Gly254Arg)	VWA1 (G254R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2282498	NM_022834.5(VWA1):c.803G>C (p.Trp268Ser)	VWA1 (W268S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3189224	NM_022834.5(VWA1):c.838G>T (p.Asp280Tyr)	VWA1 (D280Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2280996	NM_022834.5(VWA1):c.858G>T (p.Glu286Asp)	VWA1 (E286D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2331686	NM_022834.5(VWA1):c.880C>T (p.Pro294Ser)	VWA1 (P294S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2355527	NM_022834.5(VWA1):c.899G>A (p.Arg300His)	VWA1 (R300H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2216303	NM_022834.5(VWA1):c.931T>G (p.Ser311Ala)	VWA1 (S311A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2226924	NM_022834.5(VWA1):c.953G>A (p.Gly318Glu)	VWA1 (G318E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3189227	NM_022834.5(VWA1):c.970C>G (p.Leu324Val)	VWA1 (L324V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3189213	NM_022834.5(VWA1):c.1018A>G (p.Ile340Val)	VWA1 (I340V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2526199	NM_022834.5(VWA1):c.1031G>A (p.Arg344Gln)	VWA1 (R344Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3189214	NM_022834.5(VWA1):c.1043T>C (p.Leu348Pro)	VWA1 (L348P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2299350	NM_022834.5(VWA1):c.1095C>A (p.His365Gln)	VWA1 (H365Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2594493	NM_022834.5(VWA1):c.1100A>T (p.Gln367Leu)	VWA1 (Q367L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2394785	NM_022834.5(VWA1):c.1120G>T (p.Gly374Trp)	VWA1 (G374W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3189215	NM_022834.5(VWA1):c.1144C>T (p.Pro382Ser)	VWA1 (P382S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2254302	NM_022834.5(VWA1):c.1270G>A (p.Gly424Ser)	VWA1 (G424S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2614987	NM_022834.5(VWA1):c.1274C>T (p.Pro425Leu)	VWA1 (P425L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2385398	NM_022834.5(VWA1):c.1295T>C (p.Val432Ala)	VWA1 (V432A)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3189216	NM_022834.5(VWA1):c.1303G>A (p.Ala435Thr)	VWA1 (A435T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2316660	NM_022834.5(VWA1):c.1303G>T (p.Ala435Ser)	VWA1 (A435S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2219466	NM_022834.5(VWA1):c.1321G>A (p.Ala441Thr)	VWA1 (A441T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2489515	NM_022834.5(VWA1):c.1327C>T (p.Arg443Cys)	VWA1 (R443C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

ClinVar

Result Filters

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Germline classification

Types of conflicts

Molecular consequence

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Variant length

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Search results

Items: 47