Related gene-specific medical variations for Gene (Select 7450) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3366294	NM_000552.5(VWF):c.6211C>T (p.Gln2071Ter)	VWF (Q2071*)	Single nucleotide variant (nonsense)	von Willebrand disease type 1	GPathogenic
Select item 3362142	NM_000552.5(VWF):c.4837T>G (p.Ser1613Ala)	VWF (S1613A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361783	NM_000552.5(VWF):c.1849G>C (p.Asp617His)	VWF (D617H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361541	NM_000552.5(VWF):c.1097A>G (p.Asp366Gly)	VWF (D366G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359550	NM_000552.5(VWF):c.6052A>G (p.Ser2018Gly)	VWF (S2018G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3336819	NM_000552.5(VWF):c.846G>A (p.Leu282=)	VWF	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2690443	NM_000552.5(VWF):c.2206A>G (p.Met736Val)	VWF (M736V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2682132	NM_000552.5(VWF):c.8156-6C>T	VWF	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2682129	NM_000552.5(VWF):c.7616A>T (p.Glu2539Val)	VWF (E2539V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2682128	NM_000552.5(VWF):c.7604G>A (p.Arg2535Gln)	VWF (R2535Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2682127	NM_000552.5(VWF):c.7392C>T (p.Arg2464=)	VWF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2682126	NM_000552.5(VWF):c.7159C>T (p.Gln2387Ter)	VWF (Q2387*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2682125	NM_000552.5(VWF):c.7083C>G (p.Ala2361=)	VWF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2682124	NM_000552.5(VWF):c.7081+1G>A	VWF	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2682123	NM_000552.5(VWF):c.6248G>A (p.Gly2083Asp)	VWF (G2083D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2682122	NM_000552.5(VWF):c.5761C>T (p.Arg1921Trp)	VWF (R1921W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2682117	NM_000552.5(VWF):c.4917G>A (p.Leu1639=)	VWF	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2682116	NM_000552.5(VWF):c.4724G>A (p.Arg1575Lys)	VWF (R1575K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2682115	NM_000552.5(VWF):c.4607A>C (p.His1536Pro)	VWF (H1536P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2682114	NM_000552.5(VWF):c.4585G>A (p.Asp1529Asn)	VWF (D1529N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2682113	NM_000552.5(VWF):c.4213AAG[2] (p.Lys1407_Lys1408del)	VWF	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2682112	NM_000552.5(VWF):c.4131C>T (p.Ala1377=)	VWF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2682111	NM_000552.5(VWF):c.409G>T (p.Val137Leu)	VWF (V137L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2682110	NM_000552.5(VWF):c.4010C>A (p.Pro1337Gln)	VWF (P1337Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2682109	NM_000552.5(VWF):c.3901G>A (p.Val1301Met)	VWF (V1301M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2682108	NM_000552.5(VWF):c.3830A>T (p.Asp1277Val)	VWF (D1277V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2682105	NM_000552.5(VWF):c.3406C>T (p.Arg1136Trp)	VWF (R1136W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2682103	NM_000552.5(VWF):c.3173C>T (p.Ser1058Phe)	VWF (S1058F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2682102	NM_000552.5(VWF):c.2879_2880delinsCA (p.Arg960Pro)	VWF (R960P)	Indel (missense variant)	not provided	GUncertain significance
Select item 2682099	NM_000552.5(VWF):c.2295A>G (p.Leu765=)	VWF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2682098	NM_000552.5(VWF):c.2067C>T (p.Cys689=)	VWF	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2682097	NM_000552.5(VWF):c.2011T>G (p.Ser671Ala)	VWF (S671A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2682096	NM_000552.5(VWF):c.1443C>T (p.Arg481=)	VWF	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2664013	NM_000552.5(VWF):c.3163A>G (p.Met1055Val)	VWF (M1055V)	Single nucleotide variant (missense variant)	von Willebrand disease type 1	GUncertain significance
Select item 2627785	NM_000552.5(VWF):c.6854del (p.Ser2285fs)	VWF (S2285fs)	Deletion (frameshift variant)	von Willebrand disease type 1	GLikely pathogenic
Select item 2627759	NM_000552.5(VWF):c.5281dup (p.Met1761fs)	VWF (M1761fs)	Duplication (frameshift variant)	von Willebrand disease type 1	GLikely pathogenic
Select item 2582737	NM_000552.5(VWF):c.1984G>A (p.Gly662Arg)	VWF (G662R)	Single nucleotide variant (missense variant)	von Willebrand disease type 1	GUncertain significance
Select item 2582351	NM_000552.5(VWF):c.7393G>A (p.Val2465Met)	VWF (V2465M)	Single nucleotide variant (missense variant)	von Willebrand disease type 2	GLikely pathogenic
Select item 2573079	NM_000552.5(VWF):c.4652C>T (p.Pro1551Leu)	VWF (P1551L)	Single nucleotide variant (missense variant)	von Willebrand disease type 1	GUncertain significance
Select item 2438547	NM_000552.5(VWF):c.7970A>C (p.Gln2657Pro)	VWF (Q2657P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2438546	NM_000552.5(VWF):c.2374T>C (p.Cys792Arg)	VWF (C792R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2438544	NM_000552.5(VWF):c.532+46_532+48del	VWF	Deletion (intron variant)	not provided	GUncertain significance
Select item 2434603	NM_000552.5(VWF):c.168C>A (p.Tyr56Ter)	VWF (Y56*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2428691	NM_000552.5(VWF):c.7730-2del	VWF	Deletion (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2428639	NM_000552.5(VWF):c.5009G>C (p.Cys1670Ser)	VWF (C1670S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2428540	NM_000552.5(VWF):c.221-2A>T	VWF	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 1809581	NM_000552.5(VWF):c.4078G>T (p.Val1360Phe)	VWF (V1360F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1809580	NM_000552.5(VWF):c.799G>A (p.Ala267Thr)	VWF (A267T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1809525	NM_000552.5(VWF):c.3974C>T (p.Ser1325Phe)	VWF (S1325F)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1809514	NM_000552.5(VWF):c.4458G>A (p.Ser1486=)	VWF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1527680	GRCh37/hg19 12p13.31(chr12:6108512-6252553)	VWF	Copy number loss	not specified	GPathogenic
Select item 1330867	NM_000552.5(VWF):c.4151T>C (p.Leu1384Pro)	VWF (L1384P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1330387	NM_000552.5(VWF):c.3735dup (p.Pro1246fs)	VWF (P1246fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 1330278	NM_000552.5(VWF):c.148A>G (p.Met50Val)	VWF (M50V)	Single nucleotide variant (missense variant)	von Willebrand disease type 2	GUncertain significance
Select item 1330107	NM_000552.5(VWF):c.4255C>A (p.His1419Asn)	VWF (H1419N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1330090	NM_000552.5(VWF):c.3434G>A (p.Arg1145His)	VWF (R1145H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1330076	NM_000552.5(VWF):c.4211T>C (p.Leu1404Pro)	VWF (L1404P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1330075	NM_000552.5(VWF):c.8345T>C (p.Met2782Thr)	VWF (M2782T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1330064	NM_000552.5(VWF):c.5004G>A (p.Arg1668=)	VWF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1330038	NM_000552.5(VWF):c.5455+1G>A	VWF	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 1330037	NM_000552.5(VWF):c.7081+7C>G	VWF	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1330006	NM_000552.5(VWF):c.7081G>A (p.Ala2361Thr)	VWF (A2361T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1330000	NM_000552.5(VWF):c.3108+9G>A	VWF	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1329998	NM_000552.5(VWF):c.3666C>T (p.Cys1222=)	VWF	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1325350	NM_000552.5(VWF):c.2967+2T>C	VWF	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1323758	NM_000552.5(VWF):c.6487_6530dup (p.Ser2179_Tyr2180insArgThrValAlaThrArgSerLysCysValArgTerAlaSer)	VWF	Duplication (nonsense +1 more)	not provided	GPathogenic
Select item 1298394	NM_000552.5(VWF):c.7448A>G (p.Tyr2483Cys)	VWF (Y2483C)	Single nucleotide variant (missense variant)	von Willebrand disease type 1	GUncertain significance
Select item 1298393	NM_000552.5(VWF):c.571T>G (p.Trp191Gly)	VWF (W191G)	Single nucleotide variant (missense variant)	von Willebrand disease type 2	GUncertain significance
Select item 1098563	NM_000552.5(VWF):c.3688G>A (p.Val1230Ile)	VWF (V1230I)	Single nucleotide variant (missense variant)	von Willebrand disease type 1	GUncertain significance
Select item 1098562	NM_000552.5(VWF):c.3806A>T (p.Asp1269Val)	VWF (D1269V)	Single nucleotide variant (missense variant)	von Willebrand disease type 1	GUncertain significance
Select item 1098561	NM_000552.5(VWF):c.3805_3806insT (p.Asp1269fs)	VWF (D1269fs)	Insertion (frameshift variant)	von Willebrand disease type 1	GLikely pathogenic
Select item 1098560	NM_000552.5(VWF):c.3807T>A (p.Asp1269Glu)	VWF (D1269E)	Single nucleotide variant (missense variant)	von Willebrand disease type 1	GUncertain significance
Select item 1098559	NM_000552.5(VWF):c.4163A>G (p.Gln1388Arg)	VWF (Q1388R)	Single nucleotide variant (missense variant)	von Willebrand disease type 1	GUncertain significance
Select item 1098558	NM_000552.5(VWF):c.4414del (p.Asp1472fs)	VWF (D1472fs)	Deletion (frameshift variant)	von Willebrand disease type 1	GLikely pathogenic
Select item 1098557	NM_000552.5(VWF):c.4413del (p.Asp1472fs)	VWF (D1472fs)	Deletion (frameshift variant)	von Willebrand disease type 1	GPathogenic
Select item 1098556	NM_000552.5(VWF):c.4922G>A (p.Arg1641Lys)	VWF (R1641K)	Single nucleotide variant (missense variant)	von Willebrand disease type 1	GUncertain significance
Select item 1098555	NM_000552.5(VWF):c.5029A>G (p.Ile1677Val)	VWF (I1677V)	Single nucleotide variant (missense variant)	von Willebrand disease type 1	GUncertain significance
Select item 1098554	NM_000552.5(VWF):c.5694G>C (p.Gln1898His)	VWF (Q1898H)	Single nucleotide variant (missense variant)	von Willebrand disease type 1	GUncertain significance
Select item 1098553	NM_000552.5(VWF):c.5729C>T (p.Thr1910Ile)	VWF (T1910I)	Single nucleotide variant (missense variant)	von Willebrand disease type 1	GUncertain significance
Select item 1098552	NM_000552.5(VWF):c.5765G>A (p.Gly1922Glu)	VWF (G1922E)	Single nucleotide variant (missense variant)	von Willebrand disease type 1	GUncertain significance
Select item 1098551	NM_000552.5(VWF):c.6123C>A (p.Asn2041Lys)	VWF (N2041K)	Single nucleotide variant (missense variant)	von Willebrand disease type 1	GUncertain significance
Select item 1098550	NM_000552.5(VWF):c.6136A>G (p.Ile2046Val)	VWF (I2046V)	Single nucleotide variant (missense variant)	von Willebrand disease type 1	GUncertain significance
Select item 1098549	NM_000552.5(VWF):c.6446A>G (p.Glu2149Gly)	VWF (E2149G)	Single nucleotide variant (missense variant)	von Willebrand disease type 1	GUncertain significance
Select item 1098548	NM_000552.5(VWF):c.6449G>C (p.Cys2150Ser)	VWF (C2150S)	Single nucleotide variant (missense variant)	von Willebrand disease type 1	GUncertain significance
Select item 1098547	NM_000552.5(VWF):c.6455A>G (p.Lys2152Arg)	VWF (K2152R)	Single nucleotide variant (missense variant)	von Willebrand disease type 1	GUncertain significance
Select item 1098546	NM_000552.5(VWF):c.6677C>T (p.Ser2226Phe)	VWF (S2226F)	Single nucleotide variant (missense variant)	von Willebrand disease type 1	GUncertain significance
Select item 1098545	NM_000552.5(VWF):c.7114C>T (p.Pro2372Ser)	VWF (P2372S)	Single nucleotide variant (missense variant)	von Willebrand disease type 1	GUncertain significance
Select item 1098544	NM_000552.5(VWF):c.7201T>G (p.Ser2401Ala)	VWF (S2401A)	Single nucleotide variant (missense variant)	von Willebrand disease type 1	GUncertain significance
Select item 1098543	NM_000552.5(VWF):c.7712G>A (p.Cys2571Tyr)	VWF (C2571Y)	Single nucleotide variant (missense variant)	von Willebrand disease type 1	GUncertain significance
Select item 1098542	NM_000552.5(VWF):c.8195A>G (p.Gln2732Arg)	VWF (Q2732R)	Single nucleotide variant (missense variant)	von Willebrand disease type 1	GUncertain significance
Select item 1098541	NM_000552.5(VWF):c.8401G>A (p.Ala2801Thr)	VWF (A2801T)	Single nucleotide variant (missense variant)	von Willebrand disease type 1	GUncertain significance
Select item 1098441	NM_000552.5(VWF):c.575C>T (p.Ala192Val)	VWF (A192V)	Single nucleotide variant (missense variant)	von Willebrand disease type 1	GUncertain significance
Select item 1098440	NM_000552.5(VWF):c.949del (p.Ile317fs)	VWF (I317fs)	Deletion (frameshift variant)	von Willebrand disease type 1	GLikely pathogenic
Select item 1098439	NM_000552.5(VWF):c.960G>A (p.Met320Ile)	VWF (M320I)	Single nucleotide variant (missense variant)	von Willebrand disease type 1	GUncertain significance
Select item 1098438	NM_000552.5(VWF):c.1110-1G>T	VWF	Single nucleotide variant (splice acceptor variant)	von Willebrand disease type 1	GPathogenic
Select item 1098437	NM_000552.5(VWF):c.1730-1G>T	VWF	Single nucleotide variant (splice acceptor variant)	von Willebrand disease type 1	GPathogenic
Select item 1098436	NM_000552.5(VWF):c.1843dup (p.Cys615fs)	VWF (C615fs)	Duplication (frameshift variant)	von Willebrand disease type 1	GPathogenic
Select item 1098435	NM_000552.5(VWF):c.1916G>A (p.Arg639His)	VWF (R639H)	Single nucleotide variant (missense variant)	von Willebrand disease type 1	GUncertain significance
Select item 1098434	NM_000552.5(VWF):c.2174A>G (p.His725Arg)	VWF (H725R)	Single nucleotide variant (missense variant)	von Willebrand disease type 1	GUncertain significance
Select item 1098433	NM_000552.5(VWF):c.2182A>G (p.Met728Val)	VWF (M728V)	Single nucleotide variant (missense variant)	von Willebrand disease type 1	GUncertain significance

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