"NIHR Bioresource Rare Diseases, University of Cambridge"[submitter] A - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 131

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 627399	NM_000552.5(VWF):c.8307C>A (p.Asp2769Glu)	VWF (D2769E)	Single nucleotide variant (missense variant)	Hereditary von Willebrand disease	GUncertain significance
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 627397	NM_000552.5(VWF):c.8275A>G (p.Met2759Val)	VWF (M2759V)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 627394	NM_000552.5(VWF):c.8215T>C (p.Cys2739Arg)	VWF (C2739R)	Single nucleotide variant (missense variant)	VWF-related disorder +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 627386	NM_000552.5(VWF):c.7863del (p.Thr2622fs)	VWF (T2622fs)	Deletion (frameshift variant)	von Willebrand disease type 3	GLikely pathogenic
Select item 627383	NM_000552.5(VWF):c.7849C>A (p.Leu2617Met)	VWF (L2617M)	Single nucleotide variant (missense variant)	Abnormality of coagulation	GUncertain significance
Select item 627376	NM_000552.5(VWF):c.7732C>T (p.Arg2578Cys)	VWF (R2578C)	Single nucleotide variant (missense variant)	Hereditary von Willebrand disease +1 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 100481	NM_000552.5(VWF):c.7664_7665insAG (p.Cys2557fs)	VWF (C2557fs)	Insertion (frameshift variant)	von Willebrand disorder +1 more	GPathogenic/Likely pathogenic
Select item 627128	NM_000552.5(VWF):c.7525del (p.Asp2509fs)	VWF (D2509fs)	Deletion (frameshift variant)	Hereditary von Willebrand disease	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 627126	NM_000552.5(VWF):c.7450G>A (p.Val2484Ile)	VWF (V2484I)	Single nucleotide variant (missense variant)	Hereditary von Willebrand disease	GLikely pathogenic
Select item 627125	NM_000552.5(VWF):c.7429T>C (p.Cys2477Arg)	VWF (C2477R)	Single nucleotide variant (missense variant)	von Willebrand disease type 3	GUncertain significance
Select item 100469	NM_000552.5(VWF):c.7408C>T (p.Gln2470Ter)	VWF (Q2470*)	Single nucleotide variant (nonsense)	Hereditary von Willebrand disease	GPathogenic/Likely pathogenic
Select item 627373	NM_000552.5(VWF):c.7399C>T (p.Gln2467Ter)	VWF (Q2467*)	Single nucleotide variant (nonsense)	von Willebrand disease type 3	GLikely pathogenic
Select item 626938	NM_000552.5(VWF):c.7360_7376del (p.Thr2454fs)	VWF (T2454fs)	Deletion (frameshift variant)	Hereditary von Willebrand disease	GPathogenic
Select item 627371	NM_000552.5(VWF):c.7352G>A (p.Cys2451Tyr)	VWF (C2451Y)	Single nucleotide variant (missense variant)	Hereditary von Willebrand disease	GLikely pathogenic
Select item 627367	NM_000552.5(VWF):c.7254_7255del (p.Cys2418fs)	VWF (C2418fs)	Microsatellite (frameshift variant)	von Willebrand disease type 3	GPathogenic
Select item 100460	NM_000552.5(VWF):c.7135C>T (p.Arg2379Cys)	VWF (R2379C)	Single nucleotide variant (missense variant)	Hereditary von Willebrand disease +1 more	GUncertain significance
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 627118	NM_000552.5(VWF):c.6798+6A>G	VWF	Single nucleotide variant (intron variant)	von Willebrand disease type 3	GUncertain significance
Select item 627117	NM_000552.5(VWF):c.6798+5G>A	VWF	Single nucleotide variant (intron variant)	von Willebrand disease type 3	GUncertain significance
Select item 100449	NM_000552.5(VWF):c.6798+1G>T	VWF	Single nucleotide variant (splice donor variant)	Hereditary von Willebrand disease	GLikely pathogenic
Select item 627115	NM_000552.5(VWF):c.6762C>G (p.Cys2254Trp)	VWF (C2254W)	Single nucleotide variant (missense variant)	Hereditary von Willebrand disease	GUncertain significance
Select item 310051	NM_000552.5(VWF):c.6611C>T (p.Pro2204Leu)	VWF (P2204L)	Single nucleotide variant (missense variant)	Hereditary von Willebrand disease	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 627353	NM_000552.5(VWF):c.6538T>C (p.Tyr2180His)	VWF (Y2180H)	Single nucleotide variant (missense variant)	Hereditary von Willebrand disease	GUncertain significance
Select item 626932	NM_000552.5(VWF):c.6488G>A (p.Cys2163Tyr)	VWF (C2163Y)	Single nucleotide variant (missense variant)	Hereditary von Willebrand disease	GLikely pathogenic
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 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 627104	NM_000552.5(VWF):c.6314C>T (p.Thr2105Ile)	VWF (T2105I)	Single nucleotide variant (missense variant)	Hereditary von Willebrand disease	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 626931	NM_000552.5(VWF):c.5849G>A (p.Cys1950Tyr)	VWF (C1950Y)	Single nucleotide variant (missense variant)	Hereditary von Willebrand disease	GUncertain significance
Select item 627514	NM_000552.5(VWF):c.5621-47_5842+51del	VWF	Deletion (splice acceptor variant +1 more)	Hereditary von Willebrand disease	GPathogenic
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 627096	NM_000552.5(VWF):c.5668G>A (p.Gly1890Arg)	VWF (G1890R)	Single nucleotide variant (missense variant)	Hereditary von Willebrand disease	GUncertain significance
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 627334	NM_000552.5(VWF):c.5471C>G (p.Pro1824Arg)	VWF (P1824R)	Single nucleotide variant (missense variant)	Hereditary von Willebrand disease	GLikely pathogenic
Select item 100423	NM_000552.5(VWF):c.5321T>C (p.Leu1774Ser)	VWF (L1774S)	Single nucleotide variant (missense variant)	Hereditary von Willebrand disease	GLikely pathogenic
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 627322	NM_000552.5(VWF):c.5170+5G>A	VWF	Single nucleotide variant (intron variant)	not specified +2 more	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 627321	NM_000552.5(VWF):c.4834G>C (p.Ala1612Pro)	VWF (A1612P)	Single nucleotide variant (missense variant)	Hereditary von Willebrand disease	GUncertain significance
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 627317	NM_000552.5(VWF):c.4727C>A (p.Thr1576Asn)	VWF (T1576N)	Single nucleotide variant (missense variant)	Hereditary von Willebrand disease	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 627313	NM_000552.5(VWF):c.4622A>G (p.Gln1541Arg)	VWF (Q1541R)	Single nucleotide variant (missense variant)	Hereditary von Willebrand disease	GUncertain significance
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 627073	NM_000552.5(VWF):c.4473G>C (p.Lys1491Asn)	VWF (K1491N)	Single nucleotide variant (missense variant)	Abnormality of coagulation	GUncertain significance
Select item 100360	NM_000552.5(VWF):c.4453del (p.Val1485fs)	VWF (V1485fs)	Deletion (frameshift variant)	Abnormality of coagulation	GPathogenic
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 627305	NM_000552.5(VWF):c.4146G>T (p.Leu1382=)	VWF	Single nucleotide variant (synonymous variant)	not provided +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 627303	NM_000552.5(VWF):c.4105T>C (p.Phe1369Leu)	VWF (F1369L)	Single nucleotide variant (missense variant)	Hereditary von Willebrand disease	GLikely pathogenic
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 100323	NM_000552.5(VWF):c.4082T>C (p.Leu1361Ser)	VWF (L1361S)	Single nucleotide variant (missense variant)	Hereditary von Willebrand disease	GLikely pathogenic
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 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 627203	NM_000552.5(VWF):c.3675-1G>A	VWF	Single nucleotide variant (splice acceptor variant)	von Willebrand disease type 3	GLikely pathogenic
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 439332	NM_000552.5(VWF):c.3613C>T (p.Arg1205Cys)	VWF (R1205C)	Single nucleotide variant (missense variant)	Hereditary von Willebrand disease +2 more	GPathogenic/Likely pathogenic
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 100257	NM_000552.5(VWF):c.3379+1G>A	VWF	Single nucleotide variant (splice donor variant)	Hereditary von Willebrand disease	GPathogenic
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 626953	NM_000552.5(VWF):c.3314C>A (p.Ala1105Asp)	VWF (A1105D)	Single nucleotide variant (missense variant)	Abnormality of coagulation	GLikely pathogenic
Select item 626952	NM_000552.5(VWF):c.3251G>A (p.Cys1084Tyr)	VWF (C1084Y)	Single nucleotide variant (missense variant)	Hereditary von Willebrand disease	GUncertain significance
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 626928	NM_000552.5(VWF):c.2981G>A (p.Gly994Asp)	VWF (G994D)	Single nucleotide variant (missense variant)	Hereditary von Willebrand disease	GUncertain significance
Select item 627054	NM_000552.5(VWF):c.2921G>A (p.Trp974Ter)	VWF (W974*)	Single nucleotide variant (nonsense)	Hereditary von Willebrand disease	GPathogenic
Select item 627044	NM_000552.5(VWF):c.2686-7T>G	VWF	Single nucleotide variant (intron variant)	Hereditary von Willebrand disease	GUncertain significance
Select item 627291	NM_000552.5(VWF):c.2649_2650insTTTG (p.Leu884fs)	VWF (L884fs)	Insertion (frameshift variant)	Hereditary von Willebrand disease	GLikely pathogenic
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 100225	NM_000552.5(VWF):c.2516del (p.Gly839fs)	VWF (G839fs)	Deletion (frameshift variant)	von Willebrand disease type 3	GLikely pathogenic
Select item 100223	NM_000552.5(VWF):c.2447G>A (p.Arg816Gln)	VWF (R816Q)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic

<< First< Prev

Page of 2