ClinVar for MedGen (Select 220393) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3235047	NM_000552.5(VWF):c.953A>G (p.Asn318Ser)	VWF (N318S)	Single nucleotide variant (missense variant)	von Willebrand disease type 1	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 2627239	NM_000552.5(VWF):c.3749C>G (p.Ala1250Gly)	VWF (A1250G)	Single nucleotide variant (missense variant)	von Willebrand disease type 2 +1 more	GUncertain significance
Select item 2585344	NM_000552.5(VWF):c.5051C>G (p.Pro1684Arg)	VWF (P1684R)	Single nucleotide variant (missense variant)	von Willebrand disease type 1	GUncertain significance
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 2573080	NM_000552.5(VWF):c.270A>C (p.Glu90Asp)	VWF (E90D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
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 2572655	NM_000552.5(VWF):c.4342C>T (p.Gln1448Ter)	VWF (Q1448*)	Single nucleotide variant (nonsense)	von Willebrand disease type 1	GLikely pathogenic
Select item 2572135	NM_000552.5(VWF):c.1594G>C (p.Gly532Arg)	VWF (G532R)	Single nucleotide variant (missense variant)	von Willebrand disease type 1	GUncertain significance
Select item 2572110	NM_000552.5(VWF):c.7650_7651del (p.Gln2551fs)	VWF (Q2551fs)	Deletion (frameshift variant)	von Willebrand disease type 1	GLikely pathogenic
Select item 2572109	NM_000552.5(VWF):c.7287+12T>G	VWF	Single nucleotide variant (intron variant)	von Willebrand disease type 1	GUncertain significance
Select item 2572097	NM_000552.5(VWF):c.5746C>G (p.Arg1916Gly)	VWF (R1916G)	Single nucleotide variant (missense variant)	von Willebrand disease type 1	GUncertain significance
Select item 2572095	NM_000552.5(VWF):c.5222T>C (p.Ile1741Thr)	VWF (I1741T)	Single nucleotide variant (missense variant)	von Willebrand disease type 1	GUncertain significance
Select item 2457121	NM_000552.5(VWF):c.2291G>A (p.Ser764Asn)	VWF (S764N)	Single nucleotide variant (missense variant)	von Willebrand disease type 1 +1 more	GUncertain significance
Select item 2215813	NM_000552.5(VWF):c.6768G>C (p.Gln2256His)	VWF (Q2256H)	Single nucleotide variant (missense variant)	von Willebrand disease type 1 +1 more	GUncertain significance
Select item 1809579	NM_000552.5(VWF):c.22G>A (p.Gly8Arg)	VWF (G8R)	Single nucleotide variant (missense variant)	von Willebrand disease type 1 +1 more	GUncertain significance
Select item 1703818	NM_000552.5(VWF):c.3946G>T (p.Val1316Leu)	VWF (V1316L)	Single nucleotide variant (missense variant)	von Willebrand disease type 1	GUncertain significance
Select item 1703817	NM_000552.5(VWF):c.4891G>A (p.Gly1631Ser)	VWF (G1631S)	Single nucleotide variant (missense variant)	von Willebrand disease type 1	GUncertain significance
Select item 1703815	NM_000552.5(VWF):c.7122_7123insAGCCCCCCCCCCCCGT (p.Cys2375fs)	VWF (C2375fs)	Insertion (frameshift variant)	von Willebrand disease type 1	GLikely pathogenic
Select item 1703812	NM_000552.5(VWF):c.8008G>A (p.Gly2670Ser)	VWF (G2670S)	Single nucleotide variant (missense variant)	von Willebrand disease type 1	GUncertain significance
Select item 1703810	NM_000552.5(VWF):c.5198T>C (p.Leu1733Pro)	VWF (L1733P)	Single nucleotide variant (missense variant)	von Willebrand disease type 1	GUncertain significance
Select item 1703260	NC_000002.12:g.5853982_6200592del	LOC126806115, LOC126806116 +3 more	Deletion	von Willebrand disease type 1	GLikely pathogenic
Select item 1698781	NM_000552.5(VWF):c.3108+5G>C	VWF	Single nucleotide variant (intron variant)	von Willebrand disease type 1	GUncertain significance
Select item 1695369	NM_000552.5(VWF):c.6743G>A (p.Cys2248Tyr)	VWF (C2248Y)	Single nucleotide variant (missense variant)	von Willebrand disease type 1	GPathogenic
Select item 1695368	NM_000552.5(VWF):c.5458del (p.Arg1819_Val1820insTer)	VWF	Deletion (nonsense)	von Willebrand disease type 1	GPathogenic
Select item 1695366	NM_000552.5(VWF):c.4957del (p.Asp1653fs)	VWF (D1653fs)	Deletion (frameshift variant)	von Willebrand disease type 1	GPathogenic
Select item 1695365	NM_000552.5(VWF):c.4850_4867del (p.Lys1617_Asp1622del)	VWF	Deletion (inframe_deletion)	von Willebrand disease type 1	GLikely pathogenic
Select item 1695364	NM_000552.5(VWF):c.1600G>A (p.Asp534Asn)	VWF (D534N)	Single nucleotide variant (missense variant)	von Willebrand disease type 1	GUncertain significance
Select item 1695361	NM_000552.5(VWF):c.4637T>A (p.Val1546Glu)	VWF (V1546E)	Single nucleotide variant (missense variant)	von Willebrand disease type 1	GUncertain significance
Select item 1695356	NM_000552.5(VWF):c.1318del (p.Cys440fs)	VWF (C440fs)	Deletion (frameshift variant)	von Willebrand disease type 1	GPathogenic
Select item 1695354	NM_000552.5(VWF):c.3762del (p.Thr1255fs)	VWF (T1255fs)	Deletion (frameshift variant)	von Willebrand disease type 1	GPathogenic
Select item 1695353	NM_000552.5(VWF):c.722T>G (p.Val241Gly)	VWF (V241G)	Single nucleotide variant (missense variant)	von Willebrand disease type 1	GUncertain significance
Select item 1695352	NM_000552.5(VWF):c.706C>T (p.Arg236Cys)	VWF (R236C)	Single nucleotide variant (missense variant)	von Willebrand disease type 1 +1 more	GUncertain significance
Select item 1695351	NM_000552.5(VWF):c.3108+2T>G	VWF	Single nucleotide variant (splice donor variant)	von Willebrand disease type 1	GPathogenic
Select item 1695350	NM_000552.5(VWF):c.2442+4A>G	VWF	Single nucleotide variant (intron variant)	von Willebrand disease type 1	GUncertain significance
Select item 1695348	NM_000552.5(VWF):c.1955G>T (p.Cys652Phe)	VWF (C652F)	Single nucleotide variant (missense variant)	von Willebrand disease type 1	GLikely pathogenic
Select item 1695346	NM_000552.5(VWF):c.7987C>T (p.Arg2663Cys)	VWF (R2663C)	Single nucleotide variant (missense variant)	Von Willebrand disease type 2B +1 more	GPathogenic/Likely pathogenic
Select item 1686297	NM_000552.5(VWF):c.5793G>C (p.Gln1931His)	VWF (Q1931H)	Single nucleotide variant (missense variant)	von Willebrand disease type 1	GPathogenic
Select item 1684480	NM_000552.5(VWF):c.5087T>G (p.Leu1696Arg)	VWF (L1696R)	Single nucleotide variant (missense variant)	von Willebrand disease type 1	GLikely pathogenic
Select item 1684014	NM_000552.5(VWF):c.5146G>C (p.Ala1716Pro)	VWF (A1716P)	Single nucleotide variant (missense variant)	von Willebrand disease type 1	GLikely pathogenic
Select item 1677276	NM_000552.5(VWF):c.6634dup (p.Cys2212fs)	VWF (C2212fs)	Duplication (frameshift variant)	von Willebrand disease type 1	GPathogenic
Select item 1677275	NM_000552.5(VWF):c.6551G>A (p.Cys2184Tyr)	VWF (C2184Y)	Single nucleotide variant (missense variant)	von Willebrand disease type 1	GLikely pathogenic
Select item 1676731	NM_000552.5(VWF):c.1219A>C (p.Ser407Arg)	VWF (S407R)	Single nucleotide variant (missense variant)	von Willebrand disease type 1	GUncertain significance
Select item 1676729	NM_000552.5(VWF):c.4277G>A (p.Arg1426His)	VWF (R1426H)	Single nucleotide variant (missense variant)	von Willebrand disease type 1	GUncertain significance
Select item 1342155	NM_000552.5(VWF):c.4892G>A (p.Gly1631Asp)	VWF (G1631D)	Single nucleotide variant (missense variant)	von Willebrand disease type 2 +1 more	GPathogenic/Likely pathogenic
Select item 1336650	NM_000552.5(VWF):c.2739A>C (p.Gly913=)	VWF	Single nucleotide variant (synonymous variant)	not specified +4 more	GLikely benign
Select item 1333733	NM_000552.5(VWF):c.7519C>G (p.Arg2507Gly)	VWF (R2507G)	Single nucleotide variant (missense variant)	von Willebrand disease type 1	GUncertain significance
Select item 1315530	NM_000552.5(VWF):c.8116-2del	VWF	Deletion (splice acceptor variant)	von Willebrand disease type 1	GPathogenic
Select item 1315529	NM_000552.5(VWF):c.2968-14A>G	VWF	Single nucleotide variant (intron variant)	von Willebrand disease type 1	GPathogenic
Select item 1315528	NM_000552.5(VWF):c.2684A>G (p.Gln895Arg)	VWF (Q895R)	Single nucleotide variant (missense variant)	von Willebrand disease type 1	GPathogenic
Select item 1315527	NM_000552.5(VWF):c.2547-13T>A	VWF	Single nucleotide variant (intron variant)	von Willebrand disease type 1	GPathogenic
Select item 1315526	NM_000552.5(VWF):c.1534-13_1551delinsCA	VWF	Indel (splice acceptor variant)	von Willebrand disease type 1	GPathogenic
Select item 1315525	NM_000552.5(VWF):c.323+1G>T	VWF	Single nucleotide variant (splice donor variant)	von Willebrand disease type 1	GPathogenic
Select item 1315524	NM_000552.5(VWF):c.322A>T (p.Arg108Ter)	VWF (R108*)	Single nucleotide variant (nonsense)	von Willebrand disease type 1	GPathogenic
Select item 1315523	NM_000552.5(VWF):c.6535T>C (p.Ser2179Pro)	VWF (S2179P)	Single nucleotide variant (missense variant)	von Willebrand disease type 1	GPathogenic
Select item 1315522	NM_000552.5(VWF):c.221-2A>C	VWF	Single nucleotide variant (splice acceptor variant)	von Willebrand disease type 1	GPathogenic
Select item 1306044	NM_000552.5(VWF):c.5673C>G (p.Asp1891Glu)	VWF (D1891E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
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 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
Select item 1098432	NM_000552.5(VWF):c.2981G>T (p.Gly994Val)	VWF (G994V)	Single nucleotide variant (missense variant)	von Willebrand disease type 1	GUncertain significance
Select item 1098431	NM_000552.5(VWF):c.3157dup (p.Gln1053fs)	VWF (Q1053fs)	Duplication (frameshift variant)	von Willebrand disease type 1	GPathogenic
Select item 1098430	NM_000552.5(VWF):c.3286G>C (p.Asp1096His)	VWF (D1096H)	Single nucleotide variant (missense variant)	von Willebrand disease type 1	GUncertain significance
Select item 1098429	NM_000552.5(VWF):c.3358_3359insC (p.Trp1120fs)	VWF (W1120fs)	Insertion (frameshift variant)	von Willebrand disease type 1	GLikely pathogenic
Select item 1065306	NM_000552.5(VWF):c.7524_7525del (p.Asp2509fs)	VWF (D2509fs)	Deletion (frameshift variant)	von Willebrand disease type 1	GPathogenic
Select item 1065222	NM_000552.5(VWF):c.7887+2T>A	VWF	Single nucleotide variant (splice donor variant)	Hereditary von Willebrand disease +2 more	GConflicting classifications of pathogenicity
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 1033094	NM_000552.5(VWF):c.4492G>A (p.Asp1498Asn)	VWF (D1498N)	Single nucleotide variant (missense variant)	von Willebrand disease type 1	GUncertain significance

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