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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 100509	NM_000552.5(VWF):c.8416T>C (p.Cys2806Arg)	VWF (C2806R)	Single nucleotide variant (missense variant)	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 2682133	NM_000552.5(VWF):c.8295C>T (p.Asn2765=)	VWF	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 440406	NM_000552.5(VWF):c.8253+39C>T	VWF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 440405	NM_000552.5(VWF):c.8253+32T>C	VWF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 806783	NM_000552.5(VWF):c.8175C>T (p.Asn2725=)	VWF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 806784	NM_000552.5(VWF):c.8084C>G (p.Pro2695Arg)	VWF (P2695R)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 806785	NM_000552.5(VWF):c.8079C>T (p.Cys2693=)	VWF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 235639	NM_000552.5(VWF):c.7997C>T (p.Thr2666Met)	VWF (T2666M)	Single nucleotide variant (missense variant)	Hereditary von Willebrand disease +4 more	GBenign/Likely benign
Select item 372760	NM_000552.5(VWF):c.7988G>C (p.Arg2663Pro)	VWF (R2663P)	Single nucleotide variant (missense variant)	Hereditary von Willebrand disease +4 more	GConflicting classifications of pathogenicity
Select item 2921183	NM_000552.5(VWF):c.7987-13T>C	VWF	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2428535	NM_000552.5(VWF):c.7888-17T>C	VWF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 256701	NM_000552.5(VWF):c.7887+12T>C	VWF	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 2428691	NM_000552.5(VWF):c.7730-2del	VWF	Deletion (splice acceptor variant)	not provided	GLikely pathogenic
Select item 310040	NM_000552.5(VWF):c.7698G>A (p.Lys2566=)	VWF	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 100467	NM_000552.5(VWF):c.7390C>T (p.Arg2464Cys)	VWF (R2464C)	Single nucleotide variant (missense variant)	von Willebrand disorder +3 more	GPathogenic/Likely pathogenic
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 310048	NM_000552.5(VWF):c.6902-5T>A	VWF	Single nucleotide variant (intron variant)	Hereditary von Willebrand disease +1 more	GBenign/Likely benign
Select item 2428744	NM_000552.5(VWF):c.6901+14C>T	VWF	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
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 100443	NM_000552.5(VWF):c.6554G>A (p.Arg2185Gln)	VWF (R2185Q)	Single nucleotide variant (missense variant)	von Willebrand disease type 3 +5 more	GBenign/Likely benign
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 100436	NM_000552.5(VWF):c.6187C>T (p.Pro2063Ser)	VWF (P2063S)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 256689	NM_000552.5(VWF):c.6099C>T (p.Tyr2033=)	VWF	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 619939	NM_000552.5(VWF):c.5843-8C>G	VWF	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 801308	NM_000552.5(VWF):c.5515T>C (p.Leu1839=)	VWF	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 196663	NM_000552.5(VWF):c.5313G>T (p.Gly1771=)	VWF	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 806794	NM_000552.5(VWF):c.5312-19A>C	VWF	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
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 310061	NM_000552.5(VWF):c.5277C>T (p.Asp1759=)	VWF	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 994158	NM_000552.5(VWF):c.5177G>A (p.Arg1726His)	VWF (R1726H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 993630	NM_000552.5(VWF):c.5053+37G>A	VWF	Single nucleotide variant (intron variant)	not provided	GBenign
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 627079	NM_000552.5(VWF):c.4931G>A (p.Trp1644Ter)	VWF (W1644*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely 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 439342	NM_000552.5(VWF):c.4824C>T (p.Thr1608=)	VWF	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
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 100385	NM_000552.5(VWF):c.4735G>A (p.Gly1579Arg)	VWF (G1579R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 256682	NM_000552.5(VWF):c.4693G>T (p.Val1565Leu)	VWF (V1565L)	Single nucleotide variant (missense variant)	von Willebrand disease type 1 +5 more	GBenign/Likely benign
Select item 811702	NM_000552.5(VWF):c.4690C>T (p.Arg1564Trp)	VWF (R1564W)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 256681	NM_000552.5(VWF):c.4665A>C (p.Ala1555=)	VWF	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign/Likely benign
Select item 100379	NM_000552.5(VWF):c.4645G>A (p.Glu1549Lys)	VWF (E1549K)	Single nucleotide variant (missense variant)	not specified	GLikely pathogenic
Select item 256680	NM_000552.5(VWF):c.4641T>C (p.Thr1547=)	VWF	Single nucleotide variant (synonymous variant)	von Willebrand disease type 1 +5 more	GBenign/Likely benign
Select item 1330694	NM_000552.5(VWF):c.4549A>C (p.Ser1517Arg)	VWF (S1517R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 100364	NM_000552.5(VWF):c.4508T>A (p.Leu1503Gln)	VWF (L1503Q)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 440408	NM_000552.5(VWF):c.4496T>A (p.Val1499Glu)	VWF (V1499E)	Single nucleotide variant (missense variant)	not specified +1 more	GPathogenic
Select item 618486	NM_000552.5(VWF):c.4493A>G (p.Asp1498Gly)	VWF (D1498G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 560630	NM_000552.5(VWF):c.4457C>T (p.Ser1486Leu)	VWF (S1486L)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 440407	NM_000552.5(VWF):c.4443G>T (p.Gly1481=)	VWF	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 2920929	NM_000552.5(VWF):c.4413dup (p.Asp1472fs)	VWF (D1472fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 256679	NM_000552.5(VWF):c.4414G>C (p.Asp1472His)	VWF (D1472H)	Single nucleotide variant (missense variant)	von Willebrand disease type 3 +6 more	GBenign/Likely benign
Select item 100354	NM_000552.5(VWF):c.4382C>T (p.Ala1461Val)	VWF (A1461V)	Single nucleotide variant (missense variant)	not specified	GPathogenic
Select item 993703	NM_000552.5(VWF):c.4381G>A (p.Ala1461Thr)	VWF (A1461T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 310062	NM_000552.5(VWF):c.4304A>G (p.Asn1435Ser)	VWF (N1435S)	Single nucleotide variant (missense variant)	von Willebrand disease type 3 +4 more	GBenign/Likely benign
Select item 439337	NM_000552.5(VWF):c.4238C>A (p.Pro1413Gln)	VWF (P1413Q)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 993718	NM_000552.5(VWF):c.4205A>G (p.Gln1402Arg)	VWF (Q1402R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1330867	NM_000552.5(VWF):c.4151T>C (p.Leu1384Pro)	VWF (L1384P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 256678	NM_000552.5(VWF):c.4141A>G (p.Thr1381Ala)	VWF (T1381A)	Single nucleotide variant (missense variant)	not provided +5 more	GBenign/Likely benign
Select item 310063	NM_000552.5(VWF):c.4138A>G (p.Ile1380Val)	VWF (I1380V)	Single nucleotide variant (missense variant)	von Willebrand disease type 1 +4 more	GBenign/Likely benign
Select item 100332	NM_000552.5(VWF):c.4133C>T (p.Ser1378Phe)	VWF (S1378F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 439336	NM_000552.5(VWF):c.4123C>T (p.Pro1375Ser)	VWF (P1375S)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
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 100326	NM_000552.5(VWF):c.4105T>A (p.Phe1369Ile)	VWF (F1369I)	Single nucleotide variant (missense variant)	Hereditary von Willebrand disease +2 more	GPathogenic/Likely pathogenic
Select item 100322	NM_000552.5(VWF):c.4079T>C (p.Val1360Ala)	VWF (V1360A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 100321	NM_000552.5(VWF):c.4075G>A (p.Glu1359Lys)	VWF (E1359K)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 2921069	NM_000552.5(VWF):c.4037A>G (p.Gln1346Arg)	VWF (Q1346R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 100319	NM_000552.5(VWF):c.4027A>G (p.Ile1343Val)	VWF (I1343V)	Single nucleotide variant (missense variant)	von Willebrand disease type 2 +3 more	GUncertain significance
Select item 100616	NM_000552.5(VWF):c.4024C>T (p.Arg1342Cys)	VWF (R1342C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 310065	NM_000552.5(VWF):c.4007G>A (p.Arg1336Gln)	VWF (R1336Q)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 290	NM_000552.5(VWF):c.3946G>A (p.Val1316Met)	VWF (V1316M)	Single nucleotide variant (missense variant)	Von Willebrand disease type 2B +6 more	GPathogenic
Select item 100311	NM_000552.5(VWF):c.3944G>A (p.Arg1315His)	VWF (R1315H)	Single nucleotide variant (missense variant)	von Willebrand disease type 2 +2 more	GConflicting classifications of pathogenicity
Select item 100308	NM_000552.5(VWF):c.3940G>T (p.Val1314Phe)	VWF (V1314F)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
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 811125	NM_000552.5(VWF):c.3917G>C (p.Arg1306Pro)	VWF (R1306P)	Single nucleotide variant (missense variant)	not specified	GLikely pathogenic
Select item 288	NM_000552.5(VWF):c.3916C>T (p.Arg1306Trp)	VWF (R1306W)	Single nucleotide variant (missense variant)	von Willebrand disease type 2 +4 more	GPathogenic/Likely pathogenic
Select item 439333	NM_000552.5(VWF):c.3868G>A (p.Glu1290Lys)	VWF (E1290K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1695355	NM_000552.5(VWF):c.3845T>C (p.Leu1282Pro)	VWF (L1282P)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 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 256675	NM_000552.5(VWF):c.3795G>A (p.Pro1265=)	VWF	Single nucleotide variant (synonymous variant)	von Willebrand disease type 3 +5 more	GBenign/Likely benign
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 811937	NM_000552.5(VWF):c.3747T>C (p.Asp1249=)	VWF	Single nucleotide variant (synonymous variant)	von Willebrand disease type 1 +3 more	GLikely benign
Select item 1330387	NM_000552.5(VWF):c.3735dup (p.Pro1246fs)	VWF (P1246fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
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 100275	NM_000552.5(VWF):c.3692A>C (p.Asn1231Thr)	VWF (N1231T)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 100274	NM_000552.5(VWF):c.3686T>G (p.Val1229Gly)	VWF (V1229G)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 256673	NM_000552.5(VWF):c.3579T>C (p.Pro1193=)	VWF	Single nucleotide variant (synonymous variant)	von Willebrand disease type 2 +5 more	GBenign/Likely benign
Select item 256671	NM_000552.5(VWF):c.3539-33G>A	VWF	Single nucleotide variant (intron variant)	von Willebrand disease type 1 +4 more	GBenign
Select item 256665	NM_000552.5(VWF):c.3379+13G>A	VWF	Single nucleotide variant (intron variant)	not provided +5 more	GBenign/Likely benign
Select item 256666	NM_000552.5(VWF):c.3379+7A>C	VWF	Single nucleotide variant (intron variant)	not provided +5 more	GBenign
Select item 811364	NM_000552.5(VWF):c.3377G>A (p.Cys1126Tyr)	VWF (C1126Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 100254	NM_000552.5(VWF):c.3320A>G (p.Tyr1107Cys)	VWF (Y1107C)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance

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