ClinVar for MedGen (Select 224736) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664819	NM_000552.5(VWF):c.2618C>T (p.Ala873Val)	VWF (A873V)	Single nucleotide variant (missense variant)	von Willebrand disease type 2	GUncertain significance
Select item 2664814	NM_000552.5(VWF):c.3517T>C (p.Cys1173Arg)	VWF (C1173R)	Single nucleotide variant (missense variant)	von Willebrand disease type 2	GUncertain significance
Select item 2664790	NM_000552.5(VWF):c.1886A>C (p.Tyr629Ser)	VWF (Y629S)	Single nucleotide variant (missense variant)	von Willebrand disease type 2	GUncertain significance
Select item 2664779	NM_000552.5(VWF):c.3376T>C (p.Cys1126Arg)	VWF (C1126R)	Single nucleotide variant (missense variant)	von Willebrand disease type 2	GUncertain significance
Select item 2664688	NM_000552.5(VWF):c.3247G>A (p.Val1083Ile)	VWF (V1083I)	Single nucleotide variant (missense variant)	von Willebrand disease type 2	GUncertain significance
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 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 2572159	NM_000552.5(VWF):c.3569G>T (p.Cys1190Phe)	VWF (C1190F)	Single nucleotide variant (missense variant)	von Willebrand disease type 2	GLikely pathogenic
Select item 2572158	NM_000552.5(VWF):c.3530G>A (p.Cys1177Tyr)	VWF (C1177Y)	Single nucleotide variant (missense variant)	von Willebrand disease type 2	GUncertain significance
Select item 2572112	NM_000552.5(VWF):c.7729+5G>A	VWF	Single nucleotide variant (intron variant)	von Willebrand disease type 2	GUncertain significance
Select item 2403633	NM_000552.5(VWF):c.4705C>T (p.Arg1569Cys)	VWF (R1569C)	Single nucleotide variant (missense variant)	von Willebrand disease type 2 +2 more	GUncertain significance
Select item 1803115	NM_000552.5(VWF):c.7730-3C>G	VWF	Single nucleotide variant (intron variant)	von Willebrand disease type 2	GUncertain significance
Select item 1703819	NM_000552.5(VWF):c.1-10T>A	VWF	Single nucleotide variant (intron variant)	von Willebrand disease type 2	GUncertain significance
Select item 1703814	NM_000552.5(VWF):c.1311C>A (p.Asp437Glu)	VWF (D437E)	Single nucleotide variant (missense variant)	von Willebrand disease type 2	GUncertain significance
Select item 1703813	NM_000552.5(VWF):c.1339C>T (p.Arg447Trp)	VWF (R447W)	Single nucleotide variant (missense variant)	von Willebrand disease type 2 +1 more	GUncertain significance
Select item 1698737	NM_000552.5(VWF):c.4249G>T (p.Gly1417Trp)	VWF (G1417W)	Single nucleotide variant (missense variant)	von Willebrand disease type 2	GLikely pathogenic
Select item 1695367	NM_000552.5(VWF):c.4960T>A (p.Phe1654Ile)	VWF (F1654I)	Single nucleotide variant (missense variant)	von Willebrand disease type 2	GUncertain significance
Select item 1695360	NM_000552.5(VWF):c.4625A>G (p.Tyr1542Cys)	VWF (Y1542C)	Single nucleotide variant (missense variant)	von Willebrand disease type 2	GLikely pathogenic
Select item 1695358	NM_000552.5(VWF):c.4265T>G (p.Leu1422Arg)	VWF (L1422R)	Single nucleotide variant (missense variant)	von Willebrand disease type 2	GUncertain significance
Select item 1695357	NM_000552.5(VWF):c.4263C>A (p.Asn1421Lys)	VWF (N1421K)	Single nucleotide variant (missense variant)	von Willebrand disease type 2	GLikely pathogenic
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 1695347	NM_000552.5(VWF):c.1708T>C (p.Cys570Arg)	VWF (C570R)	Single nucleotide variant (missense variant)	von Willebrand disease type 2	GLikely pathogenic
Select item 1684030	NM_000552.5(VWF):c.4970T>C (p.Leu1657Pro)	VWF (L1657P)	Single nucleotide variant (missense variant)	von Willebrand disease type 2	GLikely pathogenic
Select item 1684029	NC_000012.12:g.6019283_6019339delins[NC_000022.11:g.16697696_16697856]	VWF	Indel	von Willebrand disease type 2	GUncertain significance
Select item 1684028	NC_000012.12:g.6019283_6019391delins[NC_000022.11:g.16697696_16697804]	VWF	Indel	von Willebrand disease type 2	GUncertain significance
Select item 1684027	NC_000012.12:g.6019283_6019313delins[NC_000022.11:g.16697696_16697726]	VWF	Indel	von Willebrand disease type 2	GUncertain significance
Select item 1684026	NC_000012.12:g.6019583_6019621delins[NC_000022.11:g.16697996_16698034]	VWF	Indel	von Willebrand disease type 2	GUncertain significance
Select item 1684025	NC_000012.12:g.6019621_6019683delins[NC_000022.11:g.16698034_16698096]	VWF	Indel	von Willebrand disease type 2	GUncertain significance
Select item 1684024	NC_000012.12:g.6019621_6019732delins[NC_000022.11:g.16698034_16698145]	VWF	Indel	von Willebrand disease type 2	GUncertain significance
Select item 1684023	NC_000012.12:g.6019583_6019732delins[NC_000022.11:g.16697996_16698145]	VWF	Indel	von Willebrand disease type 2	GUncertain significance
Select item 1684022	NC_000012.12:g.6019583_6019629delins[NC_000022.11:g.16697996_16698042]	VWF	Indel	von Willebrand disease type 2	GUncertain significance
Select item 1684021	NC_000012.12:g.6019621_6019629delins[NC_000022.11:g.16698034_16698042]	VWF	Indel	von Willebrand disease type 2	GUncertain significance
Select item 1684020	NM_000552.5(VWF):c.3380-2A>G	VWF	Single nucleotide variant (splice acceptor variant)	von Willebrand disease type 2	GPathogenic
Select item 1684019	NM_000552.5(VWF):c.2546+3G>C	VWF	Single nucleotide variant (intron variant)	von Willebrand disease type 2	GLikely pathogenic
Select item 1684018	NM_000552.5(VWF):c.4883T>A (p.Ile1628Asn)	VWF (I1628N)	Single nucleotide variant (missense variant)	von Willebrand disease type 2	GPathogenic
Select item 1684017	NM_000552.5(VWF):c.2678T>G (p.Leu893Arg)	VWF (L893R)	Single nucleotide variant (missense variant)	von Willebrand disease type 2	GUncertain significance
Select item 1684016	NM_000552.5(VWF):c.5338T>A (p.Tyr1780Asn)	VWF (Y1780N)	Single nucleotide variant (missense variant)	von Willebrand disease type 2	GUncertain significance
Select item 1684015	NM_000552.5(VWF):c.5459T>A (p.Val1820Glu)	VWF (V1820E)	Single nucleotide variant (missense variant)	von Willebrand disease type 2	GUncertain significance
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 1684013	NM_000552.5(VWF):c.5192C>T (p.Ser1731Leu)	VWF (S1731L)	Single nucleotide variant (missense variant)	von Willebrand disease type 2	GUncertain significance
Select item 1684012	NM_000552.5(VWF):c.4606_4611del (p.His1536_Val1537del)	VWF	Deletion (inframe_deletion)	von Willebrand disease type 2	GPathogenic
Select item 1684011	NM_000552.5(VWF):c.4277G>C (p.Arg1426Pro)	VWF (R1426P)	Single nucleotide variant (missense variant)	von Willebrand disease type 2	GUncertain significance
Select item 1684010	NM_000552.5(VWF):c.3833T>C (p.Leu1278Pro)	VWF (L1278P)	Single nucleotide variant (missense variant)	von Willebrand disease type 2	GUncertain significance
Select item 1684009	NM_000552.5(VWF):c.3847G>C (p.Asp1283His)	VWF (D1283H)	Single nucleotide variant (missense variant)	von Willebrand disease type 2	GUncertain significance
Select item 1684008	NM_000552.5(VWF):c.3928T>C (p.Ser1310Pro)	VWF (S1310P)	Single nucleotide variant (missense variant)	von Willebrand disease type 2	GLikely pathogenic
Select item 1684007	NM_000552.5(VWF):c.3515G>T (p.Gly1172Val)	VWF (G1172V)	Single nucleotide variant (missense variant)	von Willebrand disease type 2	GLikely pathogenic
Select item 1684006	NM_000552.5(VWF):c.2546G>A (p.Cys849Tyr)	VWF (C849Y)	Single nucleotide variant (missense variant)	von Willebrand disease type 2	GLikely pathogenic
Select item 1684005	NM_000552.5(VWF):c.4885G>C (p.Gly1629Arg)	VWF (G1629R)	Single nucleotide variant (missense variant)	von Willebrand disease type 2	GLikely pathogenic
Select item 1684004	NM_000552.5(VWF):c.4748G>A (p.Arg1583Gln)	VWF (R1583Q)	Single nucleotide variant (missense variant)	von Willebrand disease type 2	GLikely benign
Select item 1684003	NM_000552.5(VWF):c.3842T>G (p.Leu1281Arg)	VWF (L1281R)	Single nucleotide variant (missense variant)	von Willebrand disease type 2	GUncertain significance
Select item 1684002	NM_000552.5(VWF):c.3425G>T (p.Cys1142Phe)	VWF (C1142F)	Single nucleotide variant (missense variant)	von Willebrand disease type 2	GUncertain significance
Select item 1684001	NM_000552.5(VWF):c.3389G>A (p.Cys1130Tyr)	VWF (C1130Y)	Single nucleotide variant (missense variant)	von Willebrand disease type 2	GLikely pathogenic
Select item 1684000	NM_000552.5(VWF):c.1092_1093del (p.Asp366fs)	VWF (D366fs)	Microsatellite (frameshift variant)	von Willebrand disease type 2	GPathogenic
Select item 1683999	NM_000552.5(VWF):c.4733C>A (p.Thr1578Asn)	VWF (T1578N)	Single nucleotide variant (missense variant)	von Willebrand disease type 2	GPathogenic
Select item 1683998	NM_000552.5(VWF):c.4551C>G (p.Ser1517Arg)	VWF (S1517R)	Single nucleotide variant (missense variant)	von Willebrand disease type 2	GLikely pathogenic
Select item 1679930	NM_000552.5(VWF):c.3923G>T (p.Arg1308Leu)	VWF (R1308L)	Single nucleotide variant (missense variant)	von Willebrand disease type 2	GLikely pathogenic
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 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 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 1306044	NM_000552.5(VWF):c.5673C>G (p.Asp1891Glu)	VWF (D1891E)	Single nucleotide variant (missense variant)	von Willebrand disease type 1 +3 more	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 1065258	NM_000552.5(VWF):c.5096C>T (p.Ser1699Phe)	VWF (S1699F)	Single nucleotide variant (missense variant)	von Willebrand disease type 2	GLikely pathogenic
Select item 988654	NM_000552.5(VWF):c.6025C>T (p.His2009Tyr)	VWF (H2009Y)	Single nucleotide variant (missense variant)	von Willebrand disease type 3 +2 more	GUncertain significance
Select item 931546	NM_000552.5(VWF):c.2442+1G>A	VWF	Single nucleotide variant (splice donor variant)	von Willebrand disease type 2	GUncertain significance
Select item 931248	NM_000552.5(VWF):c.7770+1G>T	VWF	Single nucleotide variant (splice donor variant)	von Willebrand disease type 2	GPathogenic
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 811702	NM_000552.5(VWF):c.4690C>T (p.Arg1564Trp)	VWF (R1564W)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
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 801316	NM_000552.5(VWF):c.7619T>C (p.Val2540Ala)	VWF (V2540A)	Single nucleotide variant (missense variant)	von Willebrand disease type 2 +3 more	GUncertain significance
Select item 627354	NM_000552.5(VWF):c.6553C>T (p.Arg2185Trp)	VWF (R2185W)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 627315	NM_000552.5(VWF):c.4649_4651del (p.Tyr1550_Pro1551delinsSer)	VWF	Deletion (inframe_indel)	von Willebrand disease type 2	GLikely pathogenic
Select item 627314	NM_000552.5(VWF):c.4637T>G (p.Val1546Gly)	VWF (V1546G)	Single nucleotide variant (missense variant)	von Willebrand disease type 2	GLikely pathogenic
Select item 627250	NM_000552.5(VWF):c.1607T>C (p.Leu536Pro)	VWF (L536P)	Single nucleotide variant (missense variant)	Hereditary von Willebrand disease +1 more	GLikely pathogenic
Select item 627206	NM_000552.5(VWF):c.3842T>C (p.Leu1281Pro)	VWF (L1281P)	Single nucleotide variant (missense variant)	von Willebrand disease type 2 +1 more	GConflicting classifications of pathogenicity
Select item 627186	NM_000552.5(VWF):c.3390C>T (p.Cys1130=)	VWF	Single nucleotide variant (synonymous variant)	von Willebrand disease type 1 +2 more	GPathogenic/Likely pathogenic
Select item 627108	NM_000552.5(VWF):c.6421G>A (p.Val2141Ile)	VWF (V2141I)	Single nucleotide variant (missense variant)	Hereditary von Willebrand disease +1 more	GUncertain significance
Select item 627070	NM_000552.5(VWF):c.4360G>A (p.Val1454Ile)	VWF (V1454I)	Single nucleotide variant (missense variant)	von Willebrand disease type 2	GUncertain significance
Select item 627057	NM_000552.5(VWF):c.3962A>G (p.Tyr1321Cys)	VWF (Y1321C)	Single nucleotide variant (missense variant)	von Willebrand disease type 2	GLikely pathogenic
Select item 626960	NM_000552.5(VWF):c.3569G>A (p.Cys1190Tyr)	VWF (C1190Y)	Single nucleotide variant (missense variant)	von Willebrand disease type 2 +2 more	GConflicting classifications of pathogenicity
Select item 619971	NM_000552.5(VWF):c.5851A>G (p.Thr1951Ala)	VWF (T1951A)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 619940	NM_000552.5(VWF):c.604C>T (p.Arg202Trp)	VWF (R202W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 619932	NM_000552.5(VWF):c.2900G>A (p.Gly967Asp)	VWF (G967D)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
Select item 619750	NM_000552.5(VWF):c.4130C>T (p.Ala1377Val)	VWF (A1377V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 501149	NM_000552.5(VWF):c.8036A>G (p.Asn2679Ser)	VWF (N2679S)	Single nucleotide variant (missense variant)	von Willebrand disease type 1 +3 more	GUncertain significance
Select item 453122	NM_000552.5(VWF):c.3365C>T (p.Thr1122Met)	VWF (T1122M)	Single nucleotide variant (missense variant)	von Willebrand disease type 2 +3 more	GUncertain significance
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 440407	NM_000552.5(VWF):c.4443G>T (p.Gly1481=)	VWF	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 439342	NM_000552.5(VWF):c.4824C>T (p.Thr1608=)	VWF	Single nucleotide variant (synonymous variant)	von Willebrand disease type 2 +3 more	GBenign/Likely benign
Select item 439338	NM_000552.5(VWF):c.4247T>C (p.Ile1416Thr)	VWF (I1416T)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 439321	NM_000552.5(VWF):c.1205G>A (p.Arg402Lys)	VWF (R402K)	Single nucleotide variant (missense variant)	von Willebrand disease type 1 +3 more	GUncertain significance
Select item 417966	NM_000552.5(VWF):c.2570A>G (p.Asn857Ser)	VWF (N857S)	Single nucleotide variant (missense variant)	Hereditary von Willebrand disease	GUncertain significance
Select item 391499	NM_000552.5(VWF):c.1817G>A (p.Arg606Gln)	VWF (R606Q)	Single nucleotide variant (missense variant)	von Willebrand disease type 1 +5 more	GUncertain significance
Select item 381621	NM_000552.5(VWF):c.1625C>G (p.Ala542Gly)	VWF (A542G)	Single nucleotide variant (missense variant)	VWF-related condition +6 more	GConflicting classifications of pathogenicity
Select item 310080	NM_000552.5(VWF):c.1794C>T (p.Ala598=)	VWF	Single nucleotide variant (synonymous variant)	Hereditary von Willebrand disease +4 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 310062	NM_000552.5(VWF):c.4304A>G (p.Asn1435Ser)	VWF (N1435S)	Single nucleotide variant (missense variant)	Hereditary von Willebrand disease +4 more	GBenign/Likely benign
Select item 256705	NM_000552.5(VWF):c.998-27C>T	VWF	Single nucleotide variant (intron variant)	not specified +4 more	GBenign
Select item 256702	NM_000552.5(VWF):c.8113G>A (p.Gly2705Arg)	VWF (G2705R)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 256699	NM_000552.5(VWF):c.7771-13C>T	VWF	Single nucleotide variant (intron variant)	not specified +4 more	GBenign/Likely benign

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