VWA5A[gene] and "single gene"[properties] - ClinVar

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Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3189277	NM_001130142.2(VWA5A):c.31C>T (p.His11Tyr)	VWA5A (H11Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325234	NM_001130142.2(VWA5A):c.35G>A (p.Arg12Gln)	VWA5A (R12Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189270	NM_001130142.2(VWA5A):c.146C>T (p.Ala49Val)	VWA5A (A49V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404910	NM_001130142.2(VWA5A):c.154G>T (p.Val52Leu)	VWA5A (V52L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2526200	NM_001130142.2(VWA5A):c.216A>T (p.Lys72Asn)	VWA5A (K72N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262887	NM_001130142.2(VWA5A):c.217A>G (p.Ile73Val)	VWA5A (I73V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338147	NM_001130142.2(VWA5A):c.260A>G (p.Tyr87Cys)	VWA5A (Y87C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332426	NM_001130142.2(VWA5A):c.302A>T (p.Glu101Val)	VWA5A (E101V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189278	NM_001130142.2(VWA5A):c.475T>G (p.Ser159Ala)	VWA5A (S159A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468911	NM_001130142.2(VWA5A):c.538C>T (p.Leu180Phe)	VWA5A (L180F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591419	NM_001130142.2(VWA5A):c.578A>G (p.Glu193Gly)	VWA5A (E193G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189279	NM_001130142.2(VWA5A):c.601T>A (p.Leu201Met)	VWA5A (L201M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332433	NM_001130142.2(VWA5A):c.635C>T (p.Thr212Ile)	VWA5A (T212I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332425	NM_001130142.2(VWA5A):c.668A>T (p.Lys223Met)	VWA5A (K223M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189280	NM_001130142.2(VWA5A):c.722G>C (p.Ser241Thr)	VWA5A (S241T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332424	NM_001130142.2(VWA5A):c.724G>A (p.Val242Met)	VWA5A (V242M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332430	NM_001130142.2(VWA5A):c.733G>C (p.Glu245Gln)	VWA5A (E245Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518018	NM_001130142.2(VWA5A):c.863G>A (p.Arg288His)	VWA5A (R288H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224826	NM_001130142.2(VWA5A):c.886A>G (p.Met296Val)	VWA5A (M296V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332432	NM_001130142.2(VWA5A):c.914G>A (p.Arg305Gln)	VWA5A (R305Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189281	NM_001130142.2(VWA5A):c.940A>T (p.Ile314Phe)	VWA5A (I314F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189267	NM_001130142.2(VWA5A):c.1087G>A (p.Asp363Asn)	VWA5A (D363N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268094	NM_001130142.2(VWA5A):c.1150G>A (p.Gly384Ser)	VWA5A (G384S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273492	NM_001130142.2(VWA5A):c.1197C>A (p.Asp399Glu)	VWA5A (D399E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189268	NM_001130142.2(VWA5A):c.1199C>T (p.Thr400Met)	VWA5A (T400M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515643	NM_001130142.2(VWA5A):c.1223G>A (p.Arg408Lys)	VWA5A (R408K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3332428	NM_001130142.2(VWA5A):c.1253C>T (p.Ser418Leu)	VWA5A (S418L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556297	NM_001130142.2(VWA5A):c.1261A>G (p.Ile421Val)	VWA5A (I421V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205185	NM_001130142.2(VWA5A):c.1300G>C (p.Ala434Pro)	VWA5A (A434P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522272	NM_001130142.2(VWA5A):c.1303C>T (p.Arg435Trp)	VWA5A (R435W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189269	NM_001130142.2(VWA5A):c.1382C>T (p.Ser461Phe)	VWA5A (S461F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475918	NM_001130142.2(VWA5A):c.1387C>A (p.Gln463Lys)	VWA5A (Q463K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485973	NM_001130142.2(VWA5A):c.1417T>G (p.Trp473Gly)	VWA5A (W473G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220699	NM_001130142.2(VWA5A):c.1438T>C (p.Ser480Pro)	VWA5A (S480P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332431	NM_001130142.2(VWA5A):c.1465A>G (p.Thr489Ala)	VWA5A (T489A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189271	NM_001130142.2(VWA5A):c.1507C>G (p.Leu503Val)	VWA5A (L503V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467200	NM_001130142.2(VWA5A):c.1550G>T (p.Cys517Phe)	VWA5A (C517F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490521	NM_001130142.2(VWA5A):c.1556A>G (p.Lys519Arg)	VWA5A (K519R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280653	NM_001130142.2(VWA5A):c.1580T>C (p.Phe527Ser)	VWA5A (F527S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236402	NM_001130142.2(VWA5A):c.1606C>A (p.Gln536Lys)	VWA5A (Q536K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510398	NM_001130142.2(VWA5A):c.1639C>T (p.Arg547Cys)	VWA5A (R547C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322961	NM_001130142.2(VWA5A):c.1659G>T (p.Leu553Phe)	VWA5A (L553F)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2591341	NM_001130142.2(VWA5A):c.1793C>T (p.Pro598Leu)	VWA5A (P598L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471553	NM_001130142.2(VWA5A):c.1829G>A (p.Arg610Lys)	VWA5A (R610K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239152	NM_001130142.2(VWA5A):c.1843G>T (p.Gly615Cys)	VWA5A (G615C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332427	NM_001130142.2(VWA5A):c.1844G>A (p.Gly615Asp)	VWA5A (G615D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264345	NM_001130142.2(VWA5A):c.1852G>A (p.Ala618Thr)	VWA5A (A618T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3189272	NM_001130142.2(VWA5A):c.1907G>A (p.Arg636His)	VWA5A (R636H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322074	NM_001130142.2(VWA5A):c.1971G>A (p.Met657Ile)	VWA5A (M657I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189273	NM_001130142.2(VWA5A):c.1979A>G (p.Tyr660Cys)	VWA5A (Y660C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332429	NM_001130142.2(VWA5A):c.2018G>A (p.Ser673Asn)	VWA5A (S673N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189274	NM_001130142.2(VWA5A):c.2072A>G (p.Asn691Ser)	VWA5A (N691S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604270	NM_001130142.2(VWA5A):c.2192T>G (p.Val731Gly)	VWA5A (V731G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332423	NM_001130142.2(VWA5A):c.2239C>T (p.Leu747Phe)	VWA5A (L747F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189275	NM_001130142.2(VWA5A):c.2282G>C (p.Gly761Ala)	VWA5A (G761A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189276	NM_001130142.2(VWA5A):c.2305A>G (p.Lys769Glu)	VWA5A (K769E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 394270	GRCh37/hg19 11q24.2(chr11:123995450-124044984)x1	VWA5A	Copy number loss	See cases	GLikely benign

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Items: 57