VWA5B1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 57443	GRCh38/hg38 1p36.21-36.12(chr1:15385267-20980349)x1	ACTL8, AGMAT +303 more	Copy number loss	See cases	GPathogenic
Select item 59918	GRCh38/hg38 1p36.13-36.12(chr1:18347821-22512894)x1	EMC1-AS1, FAM43B +221 more	Copy number loss	See cases	GPathogenic
Select item 149019	GRCh38/hg38 1p36.13-36.12(chr1:19548795-20935131)x1	CAMK2N1, CDA +81 more	Copy number loss	See cases	GUncertain significance
Select item 3189310	NM_001039500.3(VWA5B1):c.47C>G (p.Thr16Ser)	VWA5B1 (T16S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3332448	NM_001039500.3(VWA5B1):c.76G>A (p.Gly26Ser)	VWA5B1 (G26S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3332453	NM_001039500.3(VWA5B1):c.119T>C (p.Leu40Pro)	VWA5B1 (L40P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2365174	NM_001039500.3(VWA5B1):c.140G>A (p.Gly47Asp)	VWA5B1 (G47D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2217589	NM_001039500.3(VWA5B1):c.147C>A (p.Phe49Leu)	VWA5B1 (F49L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2270244	NM_001039500.3(VWA5B1):c.148G>A (p.Val50Met)	VWA5B1 (V50M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3332443	NM_001039500.3(VWA5B1):c.160G>T (p.Asp54Tyr)	VWA5B1 (D54Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2225483	NM_001039500.3(VWA5B1):c.194T>A (p.Val65Asp)	VWA5B1 (V65D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2568567	NM_001039500.3(VWA5B1):c.206G>A (p.Arg69His)	VWA5B1 (R69H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3332441	NM_001039500.3(VWA5B1):c.246G>C (p.Glu82Asp)	VWA5B1 (E82D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2591664	NM_001039500.3(VWA5B1):c.250G>C (p.Gly84Arg)	VWA5B1 (G84R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2348101	NM_001039500.3(VWA5B1):c.308A>G (p.Asp103Gly)	VWA5B1 (D103G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2507882	NM_001039500.3(VWA5B1):c.361G>A (p.Glu121Lys)	VWA5B1 (E121K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332445	NM_001039500.3(VWA5B1):c.397G>A (p.Gly133Arg)	VWA5B1 (G28R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407739	NM_001039500.3(VWA5B1):c.437G>A (p.Ser146Asn)	VWA5B1 (S41N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407741	NM_001039500.3(VWA5B1):c.440C>A (p.Thr147Asn)	VWA5B1 (T42N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189309	NM_001039500.3(VWA5B1):c.469G>A (p.Gly157Arg)	VWA5B1 (G52R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332440	NM_001039500.3(VWA5B1):c.508A>G (p.Thr170Ala)	VWA5B1 (T65A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2638433	NM_001039500.3(VWA5B1):c.510C>T (p.Thr170=)	VWA5B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2591848	NM_001039500.3(VWA5B1):c.511G>A (p.Val171Met)	VWA5B1 (V171M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348205	NM_001039500.3(VWA5B1):c.539G>A (p.Gly180Asp)	VWA5B1 (G180D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332434	NM_001039500.3(VWA5B1):c.608A>G (p.Asn203Ser)	VWA5B1 (N203S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557064	NM_001039500.3(VWA5B1):c.632T>C (p.Leu211Pro)	VWA5B1 (L211P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320112	NM_001039500.3(VWA5B1):c.698G>T (p.Cys233Phe)	VWA5B1 (C128F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189311	NM_001039500.3(VWA5B1):c.706G>A (p.Ala236Thr)	VWA5B1 (A236T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544086	NM_001039500.3(VWA5B1):c.706G>C (p.Ala236Pro)	VWA5B1 (A131P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375773	NM_001039500.3(VWA5B1):c.710G>A (p.Gly237Glu)	VWA5B1 (G132E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189312	NM_001039500.3(VWA5B1):c.736C>T (p.Arg246Cys)	VWA5B1 (R141C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327821	NM_001039500.3(VWA5B1):c.745G>A (p.Ala249Thr)	VWA5B1 (A144T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189313	NM_001039500.3(VWA5B1):c.748G>A (p.Ala250Thr)	VWA5B1 (A145T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332437	NM_001039500.3(VWA5B1):c.761G>A (p.Arg254His)	VWA5B1 (R149H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510233	NM_001039500.3(VWA5B1):c.811C>T (p.Arg271Trp)	VWA5B1 (R271W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189314	NM_001039500.3(VWA5B1):c.947A>G (p.Lys316Arg)	VWA5B1 (K316R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332447	NM_001039500.3(VWA5B1):c.962G>A (p.Arg321Gln)	VWA5B1 (R321Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189315	NM_001039500.3(VWA5B1):c.980G>A (p.Arg327Gln)	VWA5B1 (R327Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189282	NM_001039500.3(VWA5B1):c.1078G>A (p.Gly360Arg)	VWA5B1 (G360R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189283	NM_001039500.3(VWA5B1):c.1106G>A (p.Ser369Asn)	VWA5B1 (S264N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300654	NM_001039500.3(VWA5B1):c.1119C>A (p.Ser373Arg)	VWA5B1 (S268R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189284	NM_001039500.3(VWA5B1):c.1129A>T (p.Met377Leu)	VWA5B1 (M272L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363656	NM_001039500.3(VWA5B1):c.1129A>G (p.Met377Val)	VWA5B1 (M272V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608631	NM_001039500.3(VWA5B1):c.1181C>T (p.Ala394Val)	VWA5B1 (A394V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347473	NM_001039500.3(VWA5B1):c.1342A>G (p.Ile448Val)	VWA5B1 (I343V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2212063	NM_001039500.3(VWA5B1):c.1355T>A (p.Val452Glu)	VWA5B1 (V347E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393115	NM_001039500.3(VWA5B1):c.1357C>T (p.His453Tyr)	VWA5B1 (H348Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332436	NM_001039500.3(VWA5B1):c.1361G>A (p.Arg454Gln)	VWA5B1 (R349Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3189286	NM_001039500.3(VWA5B1):c.1373G>A (p.Arg458Gln)	VWA5B1 (R353Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189287	NM_001039500.3(VWA5B1):c.1444G>A (p.Ala482Thr)	VWA5B1 (A482T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189288	NM_001039500.3(VWA5B1):c.1454C>A (p.Thr485Asn)	VWA5B1 (T380N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2638434	NM_001039500.3(VWA5B1):c.1485C>T (p.Asn495=)	VWA5B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2382809	NM_001039500.3(VWA5B1):c.1546A>T (p.Met516Leu)	VWA5B1 (M411L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189289	NM_001039500.3(VWA5B1):c.1558C>G (p.Arg520Gly)	VWA5B1 (R520G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601697	NM_001039500.3(VWA5B1):c.1558C>T (p.Arg520Trp)	VWA5B1 (R415W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592215	NM_001039500.3(VWA5B1):c.1567C>T (p.Pro523Ser)	VWA5B1 (P418S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398636	NM_001039500.3(VWA5B1):c.1625T>C (p.Val542Ala)	VWA5B1 (V437A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189290	NM_001039500.3(VWA5B1):c.1640C>G (p.Pro547Arg)	VWA5B1 (P442R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332449	NM_001039500.3(VWA5B1):c.1646C>T (p.Thr549Ile)	VWA5B1 (T549I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520452	NM_001039500.3(VWA5B1):c.1669G>A (p.Val557Ile)	VWA5B1 (V452I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2469682	NM_001039500.3(VWA5B1):c.1669G>T (p.Val557Phe)	VWA5B1 (V452F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189291	NM_001039500.3(VWA5B1):c.1696G>A (p.Glu566Lys)	VWA5B1 (E461K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404166	NM_001039500.3(VWA5B1):c.1699C>T (p.Arg567Trp)	VWA5B1 (R462W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605700	NM_001039500.3(VWA5B1):c.1712A>G (p.Tyr571Cys)	VWA5B1 (Y466C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537002	NM_001039500.3(VWA5B1):c.1750C>T (p.Pro584Ser)	VWA5B1 (P479S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330937	NM_001039500.3(VWA5B1):c.1772G>A (p.Arg591Gln)	VWA5B1 (R486Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340609	NM_001039500.3(VWA5B1):c.1798T>G (p.Ser600Ala)	VWA5B1 (S495A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262590	NM_001039500.3(VWA5B1):c.1823C>T (p.Ser608Phe)	VWA5B1 (S608F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280601	NM_001039500.3(VWA5B1):c.1846G>A (p.Glu616Lys)	VWA5B1 (E511K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343479	NM_001039500.3(VWA5B1):c.1859G>A (p.Cys620Tyr)	VWA5B1 (C515Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330076	NM_001039500.3(VWA5B1):c.1898C>T (p.Ala633Val)	VWA5B1 (A528V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189293	NM_001039500.3(VWA5B1):c.1909C>T (p.Arg637Trp)	VWA5B1 (R637W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547402	NM_001039500.3(VWA5B1):c.2020A>G (p.Met674Val)	VWA5B1 (M569V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235213	NM_001039500.3(VWA5B1):c.2047A>G (p.Lys683Glu)	VWA5B1 (K578E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477913	NM_001039500.3(VWA5B1):c.2056C>A (p.Pro686Thr)	VWA5B1 (P581T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189294	NM_001039500.3(VWA5B1):c.2114G>A (p.Arg705Gln)	VWA5B1 (R705Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189295	NM_001039500.3(VWA5B1):c.2180G>A (p.Arg727His)	VWA5B1 (R622H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3189296	NM_001039500.3(VWA5B1):c.2243G>A (p.Gly748Asp)	VWA5B1 (G748D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189297	NM_001039500.3(VWA5B1):c.2248G>A (p.Glu750Lys)	VWA5B1 (E645K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508526	NM_001039500.3(VWA5B1):c.2294G>A (p.Arg765Gln)	VWA5B1 (R660Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189298	NM_001039500.3(VWA5B1):c.2371G>A (p.Ala791Thr)	VWA5B1 (A686T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476685	NM_001039500.3(VWA5B1):c.2407G>A (p.Ala803Thr)	VWA5B1 (A698T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189299	NM_001039500.3(VWA5B1):c.2414C>T (p.Pro805Leu)	VWA5B1 (P700L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545545	NM_001039500.3(VWA5B1):c.2423T>C (p.Val808Ala)	VWA5B1 (V703A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377814	NM_001039500.3(VWA5B1):c.2495G>A (p.Gly832Glu)	VWA5B1 (G832E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607675	NM_001039500.3(VWA5B1):c.2556C>A (p.His852Gln)	VWA5B1 (H747Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271256	NM_001039500.3(VWA5B1):c.2561T>C (p.Leu854Pro)	VWA5B1 (L854P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332439	NM_001039500.3(VWA5B1):c.2570G>A (p.Arg857His)	VWA5B1 (R752H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458564	NM_001039500.3(VWA5B1):c.2570G>T (p.Arg857Leu)	VWA5B1 (R752L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600427	NM_001039500.3(VWA5B1):c.2581C>G (p.Arg861Gly)	VWA5B1 (R861G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189300	NM_001039500.3(VWA5B1):c.2606G>A (p.Arg869His)	VWA5B1 (R869H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247312	NM_001039500.3(VWA5B1):c.2611G>A (p.Gly871Ser)	VWA5B1 (G766S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332438	NM_001039500.3(VWA5B1):c.2683A>G (p.Ile895Val)	VWA5B1 (I790V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189301	NM_001039500.3(VWA5B1):c.2703C>A (p.Phe901Leu)	VWA5B1 (F901L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468576	NM_001039500.3(VWA5B1):c.2743G>A (p.Val915Met)	VWA5B1 (V810M +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2598571	NM_001039500.3(VWA5B1):c.2746G>T (p.Val916Leu)	VWA5B1 (V811L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386752	NM_001039500.3(VWA5B1):c.2777G>C (p.Arg926Pro)	VWA5B1 (R926P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279471	NM_001039500.3(VWA5B1):c.2781G>A (p.Met927Ile)	VWA5B1 (M822I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332444	NM_001039500.3(VWA5B1):c.2789C>G (p.Ser930Cys)	VWA5B1 (S825C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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