C1264039[trait identifier] AND "NIHR Bioresource Rare Diseases, Univer - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 627398	NM_000552.5(VWF):c.8276T>C (p.Met2759Thr)	VWF (M2759T)	Single nucleotide variant (missense variant)	Hereditary von Willebrand disease +1 more	GUncertain significance
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 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 627375	NM_000552.5(VWF):c.7730-1G>T	VWF	Single nucleotide variant (splice acceptor variant)	von Willebrand disease type 3 +1 more	GLikely pathogenic
Select item 627127	NM_000552.5(VWF):c.7493C>A (p.Ala2498Asp)	VWF (A2498D)	Single nucleotide variant (missense variant)	von Willebrand disease type 1 +2 more	GConflicting classifications of pathogenicity
Select item 627363	NM_000552.5(VWF):c.7080C>A (p.Cys2360Ter)	VWF (C2360*)	Single nucleotide variant (nonsense)	Abnormality of coagulation +1 more	GPathogenic
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 627112	NM_000552.5(VWF):c.6479A>G (p.Tyr2160Cys)	VWF (Y2160C)	Single nucleotide variant (missense variant)	von Willebrand disease type 1 +2 more	GUncertain significance
Select item 619971	NM_000552.5(VWF):c.5851A>G (p.Thr1951Ala)	VWF (T1951A)	Single nucleotide variant (missense variant)	Hereditary von Willebrand disease +6 more	GConflicting classifications of pathogenicity
Select item 627336	NM_000552.5(VWF):c.5801T>G (p.Val1934Gly)	VWF (V1934G)	Single nucleotide variant (missense variant)	von Willebrand disease type 1 +2 more	GConflicting classifications of pathogenicity
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 627322	NM_000552.5(VWF):c.5170+5G>A	VWF	Single nucleotide variant (intron variant)	not specified +2 more	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 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 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 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 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 100294	NM_000552.5(VWF):c.3863T>G (p.Leu1288Arg)	VWF (L1288R)	Single nucleotide variant (missense variant)	Hereditary von Willebrand disease +2 more	GPathogenic/Likely pathogenic
Select item 627206	NM_000552.5(VWF):c.3842T>C (p.Leu1281Pro)	VWF (L1281P)	Single nucleotide variant (missense variant)	von Willebrand disease type 1 +1 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 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 308	NM_000552.5(VWF):c.3614G>A (p.Arg1205His)	VWF (R1205H)	Single nucleotide variant (missense variant)	von Willebrand disease type 1 +2 more	GPathogenic
Select item 626960	NM_000552.5(VWF):c.3569G>A (p.Cys1190Tyr)	VWF (C1190Y)	Single nucleotide variant (missense variant)	von Willebrand disease type 1 +2 more	GConflicting classifications of pathogenicity
Select item 100269	NM_000552.5(VWF):c.3568T>C (p.Cys1190Arg)	VWF (C1190R)	Single nucleotide variant (missense variant)	Hereditary von Willebrand disease +2 more	GPathogenic/Likely pathogenic
Select item 100264	NM_000552.5(VWF):c.3467C>T (p.Thr1156Met)	VWF (T1156M)	Single nucleotide variant (missense variant)	von Willebrand disorder +3 more	GPathogenic/Likely pathogenic
Select item 31009	NM_000552.5(VWF):c.3437A>G (p.Tyr1146Cys)	VWF (Y1146C)	Single nucleotide variant (missense variant)	not specified +3 more	GPathogenic
Select item 627186	NM_000552.5(VWF):c.3390C>T (p.Cys1130=)	VWF	Single nucleotide variant (synonymous variant)	von Willebrand disease type 1 +3 more	GPathogenic/Likely pathogenic
Select item 100246	NM_000552.5(VWF):c.3108+5G>A	VWF	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 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 303	NM_000552.5(VWF):c.2435del (p.Pro812fs)	VWF (P812fs)	Deletion (frameshift variant)	Abnormal bleeding +5 more	GPathogenic
Select item 627034	NM_000552.5(VWF):c.2060G>A (p.Cys687Tyr)	VWF (C687Y)	Single nucleotide variant (missense variant)	von Willebrand disease type 1	GLikely pathogenic
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 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 626934	NM_000552.5(VWF):c.658-3C>A	VWF	Single nucleotide variant (intron variant)	von Willebrand disease type 3 +4 more	GConflicting classifications of pathogenicity
Select item 100338	NM_000552.5(VWF):c.421G>A (p.Asp141Asn)	VWF (D141N)	Single nucleotide variant (missense variant)	von Willebrand disease type 1 +1 more	GPathogenic/Likely pathogenic

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Items: 37