"Ambry Genetics"[submitter] AND "VWF"[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 134

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2396469	NM_000552.5(VWF):c.8366C>A (p.Thr2789Asn)	VWF (T2789N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2465535	NM_000552.5(VWF):c.8336C>T (p.Thr2779Met)	VWF (T2779M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1200719	NM_000552.5(VWF):c.8335A>G (p.Thr2779Ala)	VWF (T2779A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3189464	NM_000552.5(VWF):c.8285T>C (p.Ile2762Thr)	VWF (I2762T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3189462	NM_000552.5(VWF):c.8227G>A (p.Val2743Ile)	VWF (V2743I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3189461	NM_000552.5(VWF):c.8129A>G (p.Lys2710Arg)	VWF (K2710R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2334440	NM_000552.5(VWF):c.8087T>C (p.Phe2696Ser)	VWF (F2696S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2528443	NM_000552.5(VWF):c.8045G>A (p.Gly2682Glu)	VWF (G2682E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3332528	NM_000552.5(VWF):c.7884C>G (p.Pro2628=)	VWF	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2593200	NM_000552.5(VWF):c.7810C>T (p.Arg2604Cys)	VWF (R2604C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2547084	NM_000552.5(VWF):c.7759A>T (p.Thr2587Ser)	VWF (T2587S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3332531	NM_000552.5(VWF):c.7678G>A (p.Gly2560Ser)	VWF (G2560S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2477224	NM_000552.5(VWF):c.7565C>T (p.Ala2522Val)	VWF (A2522V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3189460	NM_000552.5(VWF):c.7540T>A (p.Trp2514Arg)	VWF (W2514R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3189459	NM_000552.5(VWF):c.7525G>A (p.Asp2509Asn)	VWF (D2509N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3189458	NM_000552.5(VWF):c.7321G>A (p.Gly2441Ser)	VWF (G2441S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2602718	NM_000552.5(VWF):c.7301G>A (p.Arg2434Gln)	VWF (R2434Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3189457	NM_000552.5(VWF):c.7282G>A (p.Asp2428Asn)	VWF (D2428N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2605355	NM_000552.5(VWF):c.7237A>T (p.Thr2413Ser)	VWF (T2413S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2536389	NM_000552.5(VWF):c.7212C>G (p.Ser2404Arg)	VWF (S2404R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2225855	NM_000552.5(VWF):c.7175A>G (p.Tyr2392Cys)	VWF (Y2392C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3189455	NM_000552.5(VWF):c.7145C>T (p.Thr2382Ile)	VWF (T2382I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1330096	NM_000552.5(VWF):c.6965A>T (p.Glu2322Val)	VWF (E2322V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 3233731	NM_000552.5(VWF):c.6923A>G (p.Glu2308Gly)	VWF (E2308G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3189454	NM_000552.5(VWF):c.6920G>A (p.Cys2307Tyr)	VWF (C2307Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2405143	NM_000552.5(VWF):c.6896C>T (p.Ala2299Val)	VWF (A2299V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2603708	NM_000552.5(VWF):c.6818C>T (p.Pro2273Leu)	VWF (P2273L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2215813	NM_000552.5(VWF):c.6768G>C (p.Gln2256His)	VWF (Q2256H)	Single nucleotide variant (missense variant)	von Willebrand disease type 1 +1 more	GUncertain significance
Select item 3189453	NM_000552.5(VWF):c.6763A>G (p.Thr2255Ala)	VWF (T2255A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3332533	NM_000552.5(VWF):c.6640C>T (p.His2214Tyr)	VWF (H2214Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2305174	NM_000552.5(VWF):c.6547C>T (p.Leu2183Phe)	VWF (L2183F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2271828	NM_000552.5(VWF):c.6541G>A (p.Ala2181Thr)	VWF (A2181T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3189452	NM_000552.5(VWF):c.6463G>T (p.Ala2155Ser)	VWF (A2155S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2619616	NM_000552.5(VWF):c.6413A>G (p.His2138Arg)	VWF (H2138R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3332525	NM_000552.5(VWF):c.6365C>T (p.Thr2122Met)	VWF (T2122M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2300867	NM_000552.5(VWF):c.6358G>A (p.Gly2120Arg)	VWF (G2120R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3189451	NM_000552.5(VWF):c.6242C>T (p.Thr2081Met)	VWF (T2081M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 310053	NM_000552.5(VWF):c.6196A>G (p.Asn2066Asp)	VWF (N2066D)	Single nucleotide variant (missense variant)	Hereditary von Willebrand disease +1 more	GUncertain significance
Select item 2478315	NM_000552.5(VWF):c.6163C>T (p.Leu2055Phe)	VWF (L2055F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2463968	NM_000552.5(VWF):c.6112A>G (p.Met2038Val)	VWF (M2038V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2478890	NM_000552.5(VWF):c.5993G>A (p.Arg1998Lys)	VWF (R1998K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2338148	NM_000552.5(VWF):c.5816C>A (p.Thr1939Asn)	VWF (T1939N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2337076	NM_000552.5(VWF):c.5719G>C (p.Asp1907His)	VWF (D1907H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1306044	NM_000552.5(VWF):c.5673C>G (p.Asp1891Glu)	VWF (D1891E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 3189450	NM_000552.5(VWF):c.5665C>T (p.Pro1889Ser)	VWF (P1889S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2361585	NM_000552.5(VWF):c.5494G>A (p.Asp1832Asn)	VWF (D1832N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2383457	NM_000552.5(VWF):c.5489G>A (p.Arg1830His)	VWF (R1830H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3189449	NM_000552.5(VWF):c.5458G>A (p.Val1820Met)	VWF (V1820M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 100428	NM_000552.5(VWF):c.5453A>G (p.Asn1818Ser)	VWF (N1818S)	Single nucleotide variant (missense variant)	von Willebrand disease type 2 +1 more	GUncertain significance
Select item 2615615	NM_000552.5(VWF):c.5426A>G (p.Asp1809Gly)	VWF (D1809G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3332529	NM_000552.5(VWF):c.5402C>T (p.Thr1801Met)	VWF (T1801M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3189448	NM_000552.5(VWF):c.5389G>A (p.Val1797Ile)	VWF (V1797I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2557838	NM_000552.5(VWF):c.5323G>C (p.Gly1775Arg)	VWF (G1775R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1330060	NM_000552.5(VWF):c.5287C>T (p.Arg1763Trp)	VWF (R1763W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2290956	NM_000552.5(VWF):c.5246C>T (p.Pro1749Leu)	VWF (P1749L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 801307	NM_000552.5(VWF):c.5227G>A (p.Val1743Met)	VWF (V1743M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3332534	NM_000552.5(VWF):c.5140G>A (p.Ala1714Thr)	VWF (A1714T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2388136	NM_000552.5(VWF):c.5136T>A (p.Ser1712Arg)	VWF (S1712R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2464147	NM_000552.5(VWF):c.5101A>G (p.Ser1701Gly)	VWF (S1701G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2384227	NM_000552.5(VWF):c.5099C>T (p.Ser1700Phe)	VWF (S1700F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2604410	NM_000552.5(VWF):c.4912G>C (p.Glu1638Gln)	VWF (E1638Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3189447	NM_000552.5(VWF):c.4897A>G (p.Asn1633Asp)	VWF (N1633D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2545338	NM_000552.5(VWF):c.4842T>G (p.Asp1614Glu)	VWF (D1614E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 439341	NM_000552.5(VWF):c.4800G>A (p.Ala1600=)	VWF	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 3332532	NM_000552.5(VWF):c.4799C>T (p.Ala1600Val)	VWF (A1600V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 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 2371312	NM_000552.5(VWF):c.4609G>A (p.Val1537Ile)	VWF (V1537I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3189446	NM_000552.5(VWF):c.4577A>G (p.Gln1526Arg)	VWF (Q1526R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2316718	NM_000552.5(VWF):c.4537G>A (p.Asp1513Asn)	VWF (D1513N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3189445	NM_000552.5(VWF):c.4504G>A (p.Val1502Ile)	VWF (V1502I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2464146	NM_000552.5(VWF):c.4411C>A (p.Pro1471Thr)	VWF (P1471T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2467993	NM_000552.5(VWF):c.4330G>A (p.Asp1444Asn)	VWF (D1444N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2389507	NM_000552.5(VWF):c.4258G>A (p.Ala1420Thr)	VWF (A1420T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
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 2233388	NM_000552.5(VWF):c.4025G>A (p.Arg1342His)	VWF (R1342H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2556213	NM_000552.5(VWF):c.4017G>C (p.Glu1339Asp)	VWF (E1339D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2593997	NM_000552.5(VWF):c.3967G>A (p.Asp1323Asn)	VWF (D1323N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2485892	NM_000552.5(VWF):c.3893C>T (p.Ala1298Val)	VWF (A1298V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2390106	NM_000552.5(VWF):c.3752C>T (p.Pro1251Leu)	VWF (P1251L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3189444	NM_000552.5(VWF):c.3746A>T (p.Asp1249Val)	VWF (D1249V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3189443	NM_000552.5(VWF):c.3707C>T (p.Ala1236Val)	VWF (A1236V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2559128	NM_000552.5(VWF):c.3685G>A (p.Val1229Ile)	VWF (V1229I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2468677	NM_000552.5(VWF):c.3611G>A (p.Arg1204Gln)	VWF (R1204Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2682106	NM_000552.5(VWF):c.3610C>T (p.Arg1204Trp)	VWF (R1204W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2476312	NM_000552.5(VWF):c.3550G>A (p.Asp1184Asn)	VWF (D1184N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3332527	NM_000552.5(VWF):c.3539G>T (p.Gly1180Val)	VWF (G1180V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2478809	NM_000552.5(VWF):c.3452C>T (p.Pro1151Leu)	VWF (P1151L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2298021	NM_000552.5(VWF):c.3451C>T (p.Pro1151Ser)	VWF (P1151S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3189440	NM_000552.5(VWF):c.3259G>A (p.Asp1087Asn)	VWF (D1087N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2306814	NM_000552.5(VWF):c.3231dup (p.Glu1078fs)	VWF (E1078fs)	Duplication (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 1338008	NM_000552.5(VWF):c.3191C>A (p.Thr1064Asn)	VWF (T1064N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2409474	NM_000552.5(VWF):c.3095C>T (p.Ala1032Val)	VWF (A1032V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2331408	NM_000552.5(VWF):c.3023C>A (p.Thr1008Asn)	VWF (T1008N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3189439	NM_000552.5(VWF):c.2944G>A (p.Val982Met)	VWF (V982M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2616412	NM_000552.5(VWF):c.2770C>A (p.Arg924=)	VWF	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3189438	NM_000552.5(VWF):c.2627T>A (p.Leu876His)	VWF (L876H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2512096	NM_000552.5(VWF):c.2554C>G (p.Gln852Glu)	VWF (Q852E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance

<< First< Prev

Page of 2