"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "VWF"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2683177	NM_000552.5(VWF):c.8440T>G (p.Ter2814Gly)	VWF	Single nucleotide variant (stop lost)	not provided	GUncertain significance
Select item 437264	NM_000552.5(VWF):c.8378T>C (p.Val2793Ala)	VWF (V2793A)	Single nucleotide variant (missense variant)	VWF-related disorder +2 more	GUncertain significance
Select item 100487	NM_000552.5(VWF):c.7940C>T (p.Thr2647Met)	VWF (T2647M)	Single nucleotide variant (missense variant)	Hereditary von Willebrand disease +4 more	GConflicting classifications of pathogenicity
Select item 3381075	NM_000552.5(VWF):c.7887+1G>A	VWF	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2682131	NM_000552.5(VWF):c.7774G>A (p.Gly2592Arg)	VWF (G2592R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 627376	NM_000552.5(VWF):c.7732C>T (p.Arg2578Cys)	VWF (R2578C)	Single nucleotide variant (missense variant)	Hereditary von Willebrand disease +1 more	GConflicting classifications of pathogenicity
Select item 3380064	NM_000552.5(VWF):c.7519C>T (p.Arg2507Trp)	VWF (R2507W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 631687	NM_000552.5(VWF):c.7483del (p.Leu2495fs)	VWF (L2495fs)	Deletion (frameshift variant)	von Willebrand disorder +2 more	GConflicting classifications of pathogenicity
Select item 2683416	NM_000552.5(VWF):c.7057G>A (p.Glu2353Lys)	VWF (E2353K)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 310044	NM_000552.5(VWF):c.7007C>T (p.Pro2336Leu)	VWF (P2336L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 100453	NM_000552.5(VWF):c.6938G>A (p.Arg2313His)	VWF (R2313H)	Single nucleotide variant (missense variant)	von Willebrand disease type 1 +1 more	GUncertain significance
Select item 993252	NM_000552.5(VWF):c.6937C>T (p.Arg2313Cys)	VWF (R2313C)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 100450	NM_000552.5(VWF):c.6859C>T (p.Arg2287Trp)	VWF (R2287W)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 3233638	NM_000552.5(VWF):c.6674G>A (p.Ser2225Asn)	VWF (S2225N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2683421	NM_000552.5(VWF):c.6578G>A (p.Trp2193Ter)	VWF (W2193*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 619942	NM_000552.5(VWF):c.6532G>T (p.Ala2178Ser)	VWF (A2178S)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 3381076	NM_000552.5(VWF):c.6452A>C (p.His2151Pro)	VWF (H2151P)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3380066	NM_000552.5(VWF):c.6356C>G (p.Pro2119Arg)	VWF (P2119R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3042514	NM_000552.5(VWF):c.6353G>A (p.Arg2118Gln)	VWF (R2118Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2683178	NM_000552.5(VWF):c.5814G>C (p.Glu1938Asp)	VWF (E1938D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2683179	NM_000552.5(VWF):c.5778G>A (p.Ser1926=)	VWF	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2683180	NM_000552.5(VWF):c.5768T>C (p.Leu1923Pro)	VWF (L1923P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3380067	NM_000552.5(VWF):c.5755T>C (p.Cys1919Arg)	VWF (C1919R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 298	NM_000552.5(VWF):c.5557C>T (p.Arg1853Ter)	VWF (R1853*)	Single nucleotide variant (nonsense)	Abnormality of blood and blood-forming tissues +4 more	GPathogenic
Select item 2682121	NM_000552.5(VWF):c.5483G>T (p.Gly1828Val)	VWF (G1828V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3380068	NM_000552.5(VWF):c.5382G>C (p.Lys1794Asn)	VWF (K1794N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1330060	NM_000552.5(VWF):c.5287C>T (p.Arg1763Trp)	VWF (R1763W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3234250	NM_000552.5(VWF):c.5285A>G (p.Gln1762Arg)	VWF (Q1762R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 100422	NM_000552.5(VWF):c.5278G>A (p.Val1760Ile)	VWF (V1760I)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 801307	NM_000552.5(VWF):c.5227G>A (p.Val1743Met)	VWF (V1743M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3381077	NM_000552.5(VWF):c.5201_5202dup (p.Tyr1735fs)	VWF (Y1735fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 3381078	NM_000552.5(VWF):c.5189dup (p.Ser1731fs)	VWF (S1731fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 619937	NM_000552.5(VWF):c.5173C>T (p.Pro1725Ser)	VWF (P1725S)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 100418	NM_000552.5(VWF):c.5170+10C>T	VWF	Single nucleotide variant (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 3380070	NM_000552.5(VWF):c.5129T>G (p.Met1710Arg)	VWF (M1710R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3381079	NM_000552.5(VWF):c.4918G>T (p.Glu1640Ter)	VWF (E1640*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 284	NM_000552.5(VWF):c.4883T>C (p.Ile1628Thr)	VWF (I1628T)	Single nucleotide variant (missense variant)	Von Willebrand disease type 2A +3 more	GPathogenic
Select item 285	NM_000552.5(VWF):c.4789C>T (p.Arg1597Trp)	VWF (R1597W)	Single nucleotide variant (missense variant)	Hereditary von Willebrand disease +4 more	GPathogenic/Likely pathogenic
Select item 310	NM_000552.5(VWF):c.4751A>G (p.Tyr1584Cys)	VWF (Y1584C)	Single nucleotide variant (missense variant)	von Willebrand disease type 1 +7 more	GConflicting classifications of pathogenicity; risk factor
Select item 1694063	NM_000552.5(VWF):c.4706G>A (p.Arg1569His)	VWF (R1569H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 100381	NM_000552.5(VWF):c.4685T>C (p.Leu1562Pro)	VWF (L1562P)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1163930	NM_000552.5(VWF):c.4571T>G (p.Val1524Gly)	VWF (V1524G)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3336257	NM_000552.5(VWF):c.4555_4557del (p.Glu1519del)	VWF (E1519del)	Deletion (inframe_deletion)	not provided +1 more	GUncertain significance
Select item 100369	NM_000552.5(VWF):c.4517C>T (p.Ser1506Leu)	VWF (S1506L)	Single nucleotide variant (missense variant)	von Willebrand disease type 2 +3 more	GPathogenic/Likely pathogenic
Select item 3380071	NM_000552.5(VWF):c.4453G>A (p.Val1485Ile)	VWF (V1485I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 100355	NM_000552.5(VWF):c.4384C>G (p.Pro1462Ala)	VWF (P1462A)	Single nucleotide variant (missense variant)	von Willebrand disease type 2 +1 more	GConflicting classifications of pathogenicity
Select item 3381080	NM_000552.5(VWF):c.4379T>C (p.Leu1460Pro)	VWF (L1460P)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3380072	NM_000552.5(VWF):c.4370T>G (p.Leu1457Arg)	VWF (L1457R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 100347	NM_000552.5(VWF):c.4309G>A (p.Ala1437Thr)	VWF (A1437T)	Single nucleotide variant (missense variant)	von Willebrand disease type 2 +2 more	GLikely pathogenic
Select item 439338	NM_000552.5(VWF):c.4247T>C (p.Ile1416Thr)	VWF (I1416T)	Single nucleotide variant (missense variant)	Hereditary von Willebrand disease +2 more	GPathogenic/Likely pathogenic
Select item 100344	NM_000552.5(VWF):c.4247T>A (p.Ile1416Asn)	VWF (I1416N)	Single nucleotide variant (missense variant)	Hereditary von Willebrand disease +1 more	GLikely pathogenic
Select item 293	NM_000552.5(VWF):c.4196G>A (p.Arg1399His)	VWF (R1399H)	Single nucleotide variant (missense variant)	von Willebrand disease type 1 +3 more	GConflicting classifications of pathogenicity
Select item 100337	NM_000552.5(VWF):c.4195C>T (p.Arg1399Cys)	VWF (R1399C)	Single nucleotide variant (missense variant)	von Willebrand disorder +3 more	GConflicting classifications of pathogenicity
Select item 100331	NM_000552.5(VWF):c.4121G>T (p.Arg1374Leu)	VWF (R1374L)	Single nucleotide variant (missense variant)	Hereditary von Willebrand disease +2 more	GPathogenic/Likely pathogenic
Select item 100330	NM_000552.5(VWF):c.4121G>A (p.Arg1374His)	VWF (R1374H)	Single nucleotide variant (missense variant)	von Willebrand disease type 1 +7 more	GPathogenic
Select item 100329	NM_000552.5(VWF):c.4120C>T (p.Arg1374Cys)	VWF (R1374C)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 291	NM_000552.5(VWF):c.4022G>A (p.Arg1341Gln)	VWF (R1341Q)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 100316	NM_000552.5(VWF):c.4021C>T (p.Arg1341Trp)	VWF (R1341W)	Single nucleotide variant (missense variant)	von Willebrand disease type 1 +2 more	GPathogenic/Likely pathogenic
Select item 619747	NM_000552.5(VWF):c.4000C>T (p.Arg1334Trp)	VWF (R1334W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 100310	NM_000552.5(VWF):c.3943C>T (p.Arg1315Cys)	VWF (R1315C)	Single nucleotide variant (missense variant)	von Willebrand disease type 1 +3 more	GPathogenic/Likely pathogenic
Select item 100307	NM_000552.5(VWF):c.3931C>T (p.Gln1311Ter)	VWF (Q1311*)	Single nucleotide variant (nonsense)	Thrombocytopenia +2 more	GPathogenic
Select item 289	NM_000552.5(VWF):c.3922C>T (p.Arg1308Cys)	VWF (R1308C)	Single nucleotide variant (missense variant)	Von Willebrand disease type 2B +3 more	GPathogenic
Select item 3381081	NM_000552.5(VWF):c.3876del (p.Glu1292fs)	VWF (E1292fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 100288	NM_000552.5(VWF):c.3835G>A (p.Val1279Ile)	VWF (V1279I)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 100281	NM_000552.5(VWF):c.3802C>G (p.His1268Asp)	VWF (H1268D)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 314	NM_000552.5(VWF):c.3797C>T (p.Pro1266Leu)	VWF (P1266L)	Single nucleotide variant (missense variant)	von Willebrand disease type 1 +4 more	GConflicting classifications of pathogenicity
Select item 256674	NM_000552.5(VWF):c.3789G>A (p.Ser1263=)	VWF	Single nucleotide variant (synonymous variant)	von Willebrand disease type 2 +4 more	GConflicting classifications of pathogenicity
Select item 310068	NM_000552.5(VWF):c.3719C>T (p.Pro1240Leu)	VWF (P1240L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 439332	NM_000552.5(VWF):c.3613C>T (p.Arg1205Cys)	VWF (R1205C)	Single nucleotide variant (missense variant)	Hereditary von Willebrand disease +2 more	GPathogenic/Likely pathogenic
Select item 3381082	NM_000552.5(VWF):c.3512A>T (p.Glu1171Val)	VWF (E1171V)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3381083	NM_000552.5(VWF):c.3360G>C (p.Trp1120Cys)	VWF (W1120C)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3380073	NM_000552.5(VWF):c.3301T>G (p.Cys1101Gly)	VWF (C1101G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 802812	NM_000552.5(VWF):c.3101_3103del (p.Thr1034del)	VWF (T1034del)	Deletion (inframe_deletion)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3380074	NM_000552.5(VWF):c.3092G>A (p.Cys1031Tyr)	VWF (C1031Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3380075	NM_000552.5(VWF):c.2941T>C (p.Ser981Pro)	VWF (S981P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 619932	NM_000552.5(VWF):c.2900G>A (p.Gly967Asp)	VWF (G967D)	Single nucleotide variant (missense variant)	von Willebrand disease type 2 +4 more	GConflicting classifications of pathogenicity
Select item 100240	NM_000552.5(VWF):c.2771G>A (p.Arg924Gln)	VWF (R924Q)	Single nucleotide variant (missense variant)	von Willebrand disease type 2 +4 more	GConflicting classifications of pathogenicity
Select item 3380076	NM_000552.5(VWF):c.2638G>A (p.Gly880Arg)	VWF (G880R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 296	NM_000552.5(VWF):c.2561G>A (p.Arg854Gln)	VWF (R854Q)	Single nucleotide variant (missense variant)	von Willebrand disease type 2N +7 more	GPathogenic/Likely pathogenic
Select item 993127	NM_000552.5(VWF):c.2510C>A (p.Ala837Asp)	VWF (A837D)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 3032014	NM_000552.5(VWF):c.2438dup (p.Met814fs)	VWF (M814fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 3380077	NM_000552.5(VWF):c.2396G>A (p.Cys799Tyr)	VWF (C799Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 294	NM_000552.5(VWF):c.2372C>T (p.Thr791Met)	VWF (T791M)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 627036	NM_000552.5(VWF):c.2299T>C (p.Cys767Arg)	VWF (C767R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3189435	NM_000552.5(VWF):c.2233G>A (p.Gly745Arg)	VWF (G745R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 310077	NM_000552.5(VWF):c.2025G>A (p.Pro675=)	VWF	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 3380078	NM_000552.5(VWF):c.2024C>T (p.Pro675Leu)	VWF (P675L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 100196	NM_000552.5(VWF):c.1922C>T (p.Ala641Val)	VWF (A641V)	Single nucleotide variant (missense variant)	Hemorrhage +3 more	GConflicting classifications of pathogenicity
Select item 993126	NM_000552.5(VWF):c.1753G>A (p.Ala585Thr)	VWF (A585T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 100188	NM_000552.5(VWF):c.1728G>T (p.Met576Ile)	VWF (M576I)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 3380079	NM_000552.5(VWF):c.1723C>A (p.Arg575Ser)	VWF (R575S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 381621	NM_000552.5(VWF):c.1625C>G (p.Ala542Gly)	VWF (A542G)	Single nucleotide variant (missense variant)	VWF-related disorder +6 more	GConflicting classifications of pathogenicity
Select item 439322	NM_000552.5(VWF):c.1562_1563delinsCT (p.Cys521Ser)	VWF (C521S)	Indel (missense variant)	von Willebrand disease type 1 +2 more	GUncertain significance
Select item 1163931	NM_000552.5(VWF):c.1519A>G (p.Arg507Gly)	VWF (R507G)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2521240	NM_000552.5(VWF):c.1472G>A (p.Arg491His)	VWF (R491H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 291166	NM_000552.5(VWF):c.1330G>A (p.Val444Ile)	VWF (V444I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3332526	NM_000552.5(VWF):c.1147G>T (p.Glu383Ter)	VWF (E383*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 3381084	NM_000552.5(VWF):c.992_993delinsAA (p.Cys331Ter)	VWF (C331*)	Indel (nonsense)	not provided	GPathogenic
Select item 1050622	NM_000552.5(VWF):c.974G>T (p.Cys325Phe)	VWF (C325F)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 3380080	NM_000552.5(VWF):c.872G>A (p.Cys291Tyr)	VWF (C291Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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