"Ambry Genetics"[submitter] AND "VAV1"[gene] - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1905644	NM_005428.4(VAV1):c.503C>T (p.Ala168Val)	VAV1 (A168V)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1442177	NM_005428.4(VAV1):c.517A>G (p.Ile173Val)	VAV1 (I173V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1412527	NM_005428.4(VAV1):c.535C>A (p.Arg179Ser)	VAV1 (R179S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1435819	NM_005428.4(VAV1):c.587G>A (p.Cys196Tyr)	VAV1 (C196Y)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 548023	NM_005428.4(VAV1):c.650A>G (p.Gln217Arg)	VAV1 (Q217R)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2471583	NM_005428.4(VAV1):c.895G>A (p.Ala299Thr)	VAV1 (A267T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2551720	NM_005428.4(VAV1):c.1231A>G (p.Ile411Val)	VAV1 (I411V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595891	NM_005428.4(VAV1):c.1326C>A (p.Asp442Glu)	VAV1 (D442E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556907	NM_005428.4(VAV1):c.1348C>T (p.His450Tyr)	VAV1 (H418Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188272	NM_005428.4(VAV1):c.1408A>G (p.Met470Val)	VAV1 (M438V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232216	NM_005428.4(VAV1):c.1427A>T (p.Asp476Val)	VAV1 (D476V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1358342	NM_005428.4(VAV1):c.1534A>G (p.Thr512Ala)	VAV1 (T480A +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1432918	NM_005428.4(VAV1):c.1615A>G (p.Thr539Ala)	VAV1 (T507A +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2526639	NM_005428.4(VAV1):c.1633C>T (p.Arg545Cys)	VAV1 (R545C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188273	NM_005428.4(VAV1):c.1693G>A (p.Gly565Ser)	VAV1 (G565S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1421554	NM_005428.4(VAV1):c.1742A>G (p.His581Arg)	VAV1 (H549R +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2067216	NM_005428.4(VAV1):c.1744C>T (p.Arg582Cys)	VAV1 (R550C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2541658	NM_005428.4(VAV1):c.1767G>T (p.Arg589Ser)	VAV1 (R589S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482241	NM_005428.4(VAV1):c.1803G>C (p.Gln601His)	VAV1 (Q569H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1497694	NM_005428.4(VAV1):c.1838T>A (p.Ile613Asn)	VAV1 (I613N +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2302059	NM_005428.4(VAV1):c.1862C>T (p.Pro621Leu)	VAV1 (P621L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205702	NM_005428.4(VAV1):c.1892A>T (p.Glu631Val)	VAV1 (E599V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1469444	NM_005428.4(VAV1):c.1984C>A (p.Pro662Thr)	VAV1 (P662T +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1017032	NM_005428.4(VAV1):c.2023C>T (p.Pro675Ser)	VAV1 (P643S +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2310238	NM_005428.4(VAV1):c.2050A>G (p.Ile684Val)	VAV1 (I662V +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2536198	NM_005428.4(VAV1):c.2066C>T (p.Ser689Leu)	VAV1 (S657L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188275	NM_005428.4(VAV1):c.2068G>A (p.Asp690Asn)	VAV1 (D690N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 440401	NM_005428.4(VAV1):c.2161A>T (p.Met721Leu)	VAV1 (M689L +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2281813	NM_005428.4(VAV1):c.2182C>T (p.Arg728Trp)	VAV1 (R696W +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2315149	NM_005428.4(VAV1):c.2207G>A (p.Arg736Gln)	VAV1 (R704Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269147	NM_005428.4(VAV1):c.2220G>T (p.Glu740Asp)	VAV1 (E708D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315849	NM_005428.4(VAV1):c.2281T>G (p.Leu761Val)	VAV1 (L739V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548070	NM_005428.4(VAV1):c.2302C>A (p.Pro768Thr)	VAV1 (P736T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 33