C1264040[trait identifier] AND "NIHR Bioresource Rare Diseases, Univer - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 100391	NM_000552.5(VWF):c.4790G>A (p.Arg1597Gln)	VWF (R1597Q)	Single nucleotide variant (missense variant)	Hereditary von Willebrand disease +1 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 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 100372	NM_000552.5(VWF):c.4604_4612del (p.Ile1535_Val1537del)	VWF	Deletion (inframe_deletion)	Hereditary von Willebrand disease +1 more	GLikely pathogenic
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 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 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 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 100327	NM_000552.5(VWF):c.4115T>G (p.Ile1372Ser)	VWF (I1372S)	Single nucleotide variant (missense variant)	Hereditary von Willebrand disease +1 more	GConflicting classifications of pathogenicity
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 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 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 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 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 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 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 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 100256	NM_000552.5(VWF):c.3359G>C (p.Trp1120Ser)	VWF (W1120S)	Single nucleotide variant (missense variant)	von Willebrand disease type 2 +1 more	GLikely 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 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 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 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

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Items: 42