"Ambry Genetics"[submitter] AND "VPS9D1"[gene] - ClinVar

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Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2353039	NM_004913.3(VPS9D1):c.1877G>A (p.Arg626Gln)	VPS9D1 (R626Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2333526	NM_004913.3(VPS9D1):c.1777G>T (p.Ala593Ser)	VPS9D1 (A593S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560428	NM_004913.3(VPS9D1):c.1774G>A (p.Ala592Thr)	VPS9D1 (A592T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405396	NM_004913.3(VPS9D1):c.1762G>A (p.Val588Met)	VPS9D1 (V588M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376126	NM_004913.3(VPS9D1):c.1747G>A (p.Gly583Ser)	VPS9D1 (G583S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189061	NM_004913.3(VPS9D1):c.1676C>T (p.Pro559Leu)	VPS9D1 (P559L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189060	NM_004913.3(VPS9D1):c.1669G>A (p.Gly557Arg)	VPS9D1 (G557R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216788	NM_004913.3(VPS9D1):c.1643C>T (p.Pro548Leu)	VPS9D1 (P548L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352583	NM_004913.3(VPS9D1):c.1570T>C (p.Cys524Arg)	VPS9D1 (C524R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527038	NM_004913.3(VPS9D1):c.1532C>A (p.Ala511Glu)	VPS9D1 (A511E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330328	NM_004913.3(VPS9D1):c.1531G>A (p.Ala511Thr)	VPS9D1 (A511T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189059	NM_004913.3(VPS9D1):c.1510G>A (p.Ala504Thr)	VPS9D1 (A504T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189058	NM_004913.3(VPS9D1):c.1459G>A (p.Ala487Thr)	VPS9D1 (A487T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529441	NM_004913.3(VPS9D1):c.1406G>A (p.Arg469Gln)	VPS9D1 (R469Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208609	NM_004913.3(VPS9D1):c.1346C>T (p.Pro449Leu)	VPS9D1 (P449L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220247	NM_004913.3(VPS9D1):c.1316A>G (p.Lys439Arg)	VPS9D1 (K439R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454369	NM_004913.3(VPS9D1):c.1301A>C (p.Asn434Thr)	VPS9D1 (N434T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266897	NM_004913.3(VPS9D1):c.1213C>G (p.Leu405Val)	VPS9D1 (L405V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332317	NM_004913.3(VPS9D1):c.1187G>A (p.Gly396Asp)	VPS9D1 (G396D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248205	NM_004913.3(VPS9D1):c.1144G>T (p.Asp382Tyr)	VPS9D1 (D382Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189056	NM_004913.3(VPS9D1):c.1036C>T (p.Pro346Ser)	VPS9D1 (P346S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189066	NM_004913.3(VPS9D1):c.983C>T (p.Ser328Leu)	VPS9D1 (S328L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245930	NM_004913.3(VPS9D1):c.938G>A (p.Cys313Tyr)	VPS9D1 (C313Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620949	NM_004913.3(VPS9D1):c.907G>T (p.Val303Leu)	VPS9D1 (V303L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510879	NM_004913.3(VPS9D1):c.886T>C (p.Tyr296His)	VPS9D1 (Y296H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360179	NM_004913.3(VPS9D1):c.866G>A (p.Arg289Lys)	VPS9D1 (R289K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2347539	NM_004913.3(VPS9D1):c.835C>A (p.Leu279Ile)	VPS9D1 (L279I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347445	NM_004913.3(VPS9D1):c.770C>G (p.Ala257Gly)	VPS9D1 (A257G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614041	NM_004913.3(VPS9D1):c.672C>G (p.Ser224Arg)	LOC130059833, VPS9D1 +1 more (S224R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3189064	NM_004913.3(VPS9D1):c.587C>G (p.Ala196Gly)	VPS9D1, VPS9D1-AS1 (A196G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332314	NM_004913.3(VPS9D1):c.461T>G (p.Leu154Arg)	VPS9D1, VPS9D1-AS1 (L154R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494225	NM_004913.3(VPS9D1):c.405G>T (p.Gln135His)	VPS9D1, VPS9D1-AS1 (Q135H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2214243	NM_004913.3(VPS9D1):c.399G>T (p.Lys133Asn)	VPS9D1, VPS9D1-AS1 (K133N)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3189063	NM_004913.3(VPS9D1):c.338G>A (p.Arg113His)	VPS9D1, VPS9D1-AS1 (R113H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2603000	NM_004913.3(VPS9D1):c.332A>C (p.His111Pro)	VPS9D1, VPS9D1-AS1 (H111P)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2489452	NM_004913.3(VPS9D1):c.314C>G (p.Pro105Arg)	VPS9D1, VPS9D1-AS1 (P105R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3189062	NM_004913.3(VPS9D1):c.311T>C (p.Ile104Thr)	VPS9D1, VPS9D1-AS1 (I104T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3332315	NM_004913.3(VPS9D1):c.307C>T (p.Pro103Ser)	VPS9D1, VPS9D1-AS1 (P103S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2490110	NM_004913.3(VPS9D1):c.289A>T (p.Thr97Ser)	VPS9D1, VPS9D1-AS1 (T97S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2312414	NM_004913.3(VPS9D1):c.280C>G (p.Leu94Val)	VPS9D1, VPS9D1-AS1 (L94V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2384882	NM_004913.3(VPS9D1):c.238G>C (p.Glu80Gln)	VPS9D1, VPS9D1-AS1 (E80Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3332316	NM_004913.3(VPS9D1):c.200A>G (p.Asp67Gly)	VPS9D1, VPS9D1-AS1 (D67G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2526269	NM_004913.3(VPS9D1):c.154G>A (p.Glu52Lys)	VPS9D1 (E52K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248206	NM_004913.3(VPS9D1):c.142C>G (p.Gln48Glu)	VPS9D1 (Q48E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189057	NM_004913.3(VPS9D1):c.134A>G (p.Tyr45Cys)	VPS9D1 (Y45C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332318	NM_004913.3(VPS9D1):c.103G>A (p.Ala35Thr)	VPS9D1 (A35T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189065	NM_004913.3(VPS9D1):c.83C>G (p.Thr28Ser)	LOC130059835, VPS9D1 +1 more (T28S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295030	NM_004913.3(VPS9D1):c.35C>T (p.Pro12Leu)	LOC130059835, VPS9D1 +1 more (P12L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207946	NM_004913.3(VPS9D1):c.23G>A (p.Gly8Asp)	LOC130059835, VPS9D1 +1 more (G8D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 49