"Illumina Laboratory Services, Illumina"[submitter] AND "VWF"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 310031	NM_000552.5(VWF):c.8366C>G (p.Thr2789Ser)	VWF (T2789S)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 310032	NM_000552.5(VWF):c.8160G>A (p.Glu2720=)	VWF	Single nucleotide variant (synonymous variant)	VWF-related condition +1 more	GConflicting classifications of pathogenicity
Select item 310033	NM_000552.5(VWF):c.8155+8C>T	VWF	Single nucleotide variant (intron variant)	Hereditary von Willebrand disease	GUncertain significance
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 310034	NM_000552.5(VWF):c.8096A>G (p.His2699Arg)	VWF (H2699R)	Single nucleotide variant (missense variant)	Hereditary von Willebrand disease	GUncertain significance
Select item 631686	NM_000552.5(VWF):c.8052C>A (p.Tyr2684Ter)	VWF (Y2684*)	Single nucleotide variant (nonsense)	Hereditary von Willebrand disease	GUncertain significance
Select item 235639	NM_000552.5(VWF):c.7997C>T (p.Thr2666Met)	VWF (T2666M)	Single nucleotide variant (missense variant)	VWF-related condition +5 more	GBenign/Likely benign
Select item 372760	NM_000552.5(VWF):c.7988G>C (p.Arg2663Pro)	VWF (R2663P)	Single nucleotide variant (missense variant)	von Willebrand disease type 1 +4 more	GConflicting classifications of pathogenicity
Select item 310035	NM_000552.5(VWF):c.7947C>T (p.Cys2649=)	VWF	Single nucleotide variant (synonymous variant)	Hereditary von Willebrand disease	GUncertain significance
Select item 256701	NM_000552.5(VWF):c.7887+12T>C	VWF	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 310036	NM_000552.5(VWF):c.7800C>T (p.Cys2600=)	VWF	Single nucleotide variant (synonymous variant)	Hereditary von Willebrand disease	GUncertain significance
Select item 310037	NM_000552.5(VWF):c.7790T>A (p.Ile2597Asn)	VWF (I2597N)	Single nucleotide variant (missense variant)	Hereditary von Willebrand disease	GUncertain significance
Select item 256699	NM_000552.5(VWF):c.7771-13C>T	VWF	Single nucleotide variant (intron variant)	not specified +4 more	GBenign/Likely benign
Select item 882635	NM_000552.5(VWF):c.7770+13C>A	VWF	Single nucleotide variant (intron variant)	Hereditary von Willebrand disease	GUncertain significance
Select item 310038	NM_000552.5(VWF):c.7730-4C>G	VWF	Single nucleotide variant (intron variant)	not specified +1 more	GUncertain significance
Select item 310039	NM_000552.5(VWF):c.7729+8A>G	VWF	Single nucleotide variant (intron variant)	Hereditary von Willebrand disease	GUncertain significance
Select item 310040	NM_000552.5(VWF):c.7698G>A (p.Lys2566=)	VWF	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 256698	NM_000552.5(VWF):c.7682T>A (p.Phe2561Tyr)	VWF (F2561Y)	Single nucleotide variant (missense variant)	not specified +5 more	GBenign/Likely benign
Select item 631687	NM_000552.5(VWF):c.7483del (p.Leu2495fs)	VWF (L2495fs)	Deletion (frameshift variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 100467	NM_000552.5(VWF):c.7390C>T (p.Arg2464Cys)	VWF (R2464C)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 310041	NM_000552.5(VWF):c.7362C>T (p.Thr2454=)	VWF	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 310042	NM_000552.5(VWF):c.7240G>A (p.Ala2414Thr)	VWF (A2414T)	Single nucleotide variant (missense variant)	Hereditary von Willebrand disease	GUncertain significance
Select item 256696	NM_000552.5(VWF):c.7239T>C (p.Thr2413=)	VWF	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 256695	NM_000552.5(VWF):c.7082-7C>T	VWF	Single nucleotide variant (intron variant)	not specified +4 more	GBenign
Select item 310043	NM_000552.5(VWF):c.7082-13G>C	VWF	Single nucleotide variant (intron variant)	Hereditary von Willebrand disease +2 more	GConflicting classifications of pathogenicity
Select item 631688	NM_000552.5(VWF):c.7056C>T (p.Gly2352=)	VWF	Single nucleotide variant (synonymous variant)	Hereditary von Willebrand disease	GLikely pathogenic
Select item 310044	NM_000552.5(VWF):c.7007C>T (p.Pro2336Leu)	VWF (P2336L)	Single nucleotide variant (missense variant)	Hereditary von Willebrand disease	GUncertain significance
Select item 310045	NM_000552.5(VWF):c.6976+11C>T	VWF	Single nucleotide variant (intron variant)	Hereditary von Willebrand disease	GUncertain significance
Select item 310046	NM_000552.5(VWF):c.6931C>T (p.Arg2311Cys)	VWF (R2311C)	Single nucleotide variant (missense variant)	Hereditary von Willebrand disease	GUncertain significance
Select item 310047	NM_000552.5(VWF):c.6908C>T (p.Thr2303Met)	VWF (T2303M)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 310048	NM_000552.5(VWF):c.6902-5T>A	VWF	Single nucleotide variant (intron variant)	Hereditary von Willebrand disease +1 more	GBenign/Likely benign
Select item 256694	NM_000552.5(VWF):c.6846A>G (p.Thr2282=)	VWF	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 256693	NM_000552.5(VWF):c.6799-14C>T	VWF	Single nucleotide variant (intron variant)	not specified +4 more	GBenign
Select item 256692	NM_000552.5(VWF):c.6798+14C>T	VWF	Single nucleotide variant (intron variant)	not specified +4 more	GBenign/Likely benign
Select item 310049	NM_000552.5(VWF):c.6798+13G>A	VWF	Single nucleotide variant (intron variant)	Hereditary von Willebrand disease	GUncertain significance
Select item 310050	NM_000552.5(VWF):c.6756G>A (p.Glu2252=)	VWF	Single nucleotide variant (synonymous variant)	VWF-related condition +3 more	GConflicting classifications of pathogenicity
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 310052	NM_000552.5(VWF):c.6572T>C (p.Val2191Ala)	VWF (V2191A)	Single nucleotide variant (missense variant)	Hereditary von Willebrand disease	GUncertain significance
Select item 100443	NM_000552.5(VWF):c.6554G>A (p.Arg2185Gln)	VWF (R2185Q)	Single nucleotide variant (missense variant)	Hereditary von Willebrand disease +5 more	GBenign/Likely benign
Select item 100439	NM_000552.5(VWF):c.6433C>T (p.Pro2145Ser)	VWF (P2145S)	Single nucleotide variant (missense variant)	Hereditary von Willebrand disease +1 more	GUncertain significance
Select item 256690	NM_000552.5(VWF):c.6345T>A (p.Thr2115=)	VWF	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign/Likely 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 100436	NM_000552.5(VWF):c.6187C>T (p.Pro2063Ser)	VWF (P2063S)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 310054	NM_000552.5(VWF):c.6043G>A (p.Glu2015Lys)	VWF (E2015K)	Single nucleotide variant (missense variant)	Hereditary von Willebrand disease	GUncertain significance
Select item 310055	NM_000552.5(VWF):c.5876T>G (p.Val1959Gly)	VWF (V1959G)	Single nucleotide variant (missense variant)	Hereditary von Willebrand disease	GUncertain significance
Select item 256688	NM_000552.5(VWF):c.5844C>T (p.Cys1948=)	VWF	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 619939	NM_000552.5(VWF):c.5843-8C>G	VWF	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 310056	NM_000552.5(VWF):c.5785A>T (p.Asn1929Tyr)	VWF (N1929Y)	Single nucleotide variant (missense variant)	Hereditary von Willebrand disease	GUncertain significance
Select item 256687	NM_000552.5(VWF):c.5667C>T (p.Pro1889=)	VWF	Single nucleotide variant (synonymous variant)	von Willebrand disease type 1 +5 more	GBenign/Likely benign
Select item 801309	NM_000552.5(VWF):c.5665-9C>A	VWF	Single nucleotide variant (intron variant)	not provided +2 more	GUncertain significance
Select item 310057	NM_000552.5(VWF):c.5664+15G>A	VWF	Single nucleotide variant (intron variant)	Hereditary von Willebrand disease	GLikely benign
Select item 310058	NM_000552.5(VWF):c.5620+10A>G	VWF	Single nucleotide variant (intron variant)	Hereditary von Willebrand disease	GUncertain significance
Select item 310059	NM_000552.5(VWF):c.5533G>A (p.Asp1845Asn)	VWF (D1845N)	Single nucleotide variant (missense variant)	Hereditary von Willebrand disease	GUncertain significance
Select item 310060	NM_000552.5(VWF):c.5493C>T (p.Tyr1831=)	VWF	Single nucleotide variant (synonymous variant)	Hereditary von Willebrand disease	GUncertain significance
Select item 196665	NM_000552.5(VWF):c.5369C>T (p.Pro1790Leu)	VWF (P1790L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 310061	NM_000552.5(VWF):c.5277C>T (p.Asp1759=)	VWF	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 100420	NM_000552.5(VWF):c.5191T>A (p.Ser1731Thr)	VWF (S1731T)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 881604	NM_000552.5(VWF):c.5171-7C>T	VWF	Single nucleotide variant (intron variant)	Hereditary von Willebrand disease	GUncertain significance
Select item 881605	NM_000552.5(VWF):c.5170+14G>C	VWF	Single nucleotide variant (intron variant)	Hereditary von Willebrand disease	GUncertain significance
Select item 100418	NM_000552.5(VWF):c.5170+10C>T	VWF	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 881606	NM_000552.5(VWF):c.5170+3G>A	VWF	Single nucleotide variant (intron variant)	Hereditary von Willebrand disease	GUncertain significance
Select item 281929	NM_000552.5(VWF):c.5049A>C (p.Ala1683=)	VWF	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 284	NM_000552.5(VWF):c.4883T>C (p.Ile1628Thr)	VWF (I1628T)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic
Select item 256682	NM_000552.5(VWF):c.4693G>T (p.Val1565Leu)	VWF (V1565L)	Single nucleotide variant (missense variant)	von Willebrand disease type 3 +5 more	GBenign/Likely benign
Select item 256681	NM_000552.5(VWF):c.4665A>C (p.Ala1555=)	VWF	Single nucleotide variant (synonymous variant)	von Willebrand disease type 1 +5 more	GBenign/Likely benign
Select item 256680	NM_000552.5(VWF):c.4641T>C (p.Thr1547=)	VWF	Single nucleotide variant (synonymous variant)	Hereditary von Willebrand disease +5 more	GBenign/Likely benign
Select item 256679	NM_000552.5(VWF):c.4414G>C (p.Asp1472His)	VWF (D1472H)	Single nucleotide variant (missense variant)	von Willebrand disease type 1 +6 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 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 256678	NM_000552.5(VWF):c.4141A>G (p.Thr1381Ala)	VWF (T1381A)	Single nucleotide variant (missense variant)	von Willebrand disease type 3 +5 more	GBenign/Likely benign
Select item 310063	NM_000552.5(VWF):c.4138A>G (p.Ile1380Val)	VWF (I1380V)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
Select item 100333	NM_000552.5(VWF):c.4135C>T (p.Arg1379Cys)	VWF (R1379C)	Single nucleotide variant (missense variant)	VWF-related disorders +4 more	GPathogenic/Likely pathogenic
Select item 310064	NM_000552.5(VWF):c.4103T>C (p.Ile1368Thr)	VWF (I1368T)	Single nucleotide variant (missense variant)	Hereditary von Willebrand disease	GUncertain significance
Select item 310065	NM_000552.5(VWF):c.4007G>A (p.Arg1336Gln)	VWF (R1336Q)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 310066	NM_000552.5(VWF):c.3952G>A (p.Val1318Met)	VWF (V1318M)	Single nucleotide variant (missense variant)	Hereditary von Willebrand disease	GUncertain significance
Select item 314	NM_000552.5(VWF):c.3797C>T (p.Pro1266Leu)	VWF (P1266L)	Single nucleotide variant (missense variant)	Thrombocytopenia +5 more	GConflicting classifications of pathogenicity
Select item 256675	NM_000552.5(VWF):c.3795G>A (p.Pro1265=)	VWF	Single nucleotide variant (synonymous variant)	von Willebrand disease type 1 +5 more	GBenign/Likely benign
Select item 310067	NM_000552.5(VWF):c.3720G>A (p.Pro1240=)	VWF	Single nucleotide variant (synonymous variant)	Hereditary von Willebrand disease	GUncertain significance
Select item 310068	NM_000552.5(VWF):c.3719C>T (p.Pro1240Leu)	VWF (P1240L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 256673	NM_000552.5(VWF):c.3579T>C (p.Pro1193=)	VWF	Single nucleotide variant (synonymous variant)	von Willebrand disease type 3 +5 more	GBenign/Likely benign
Select item 310069	NM_000552.5(VWF):c.3539-15A>G	VWF	Single nucleotide variant (intron variant)	Hereditary von Willebrand disease	GUncertain significance
Select item 310070	NM_000552.5(VWF):c.3538+6G>T	VWF	Single nucleotide variant (intron variant)	Hereditary von Willebrand disease	GUncertain significance
Select item 256670	NM_000552.5(VWF):c.3486A>G (p.Pro1162=)	VWF	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign/Likely benign
Select item 256669	NM_000552.5(VWF):c.3485C>T (p.Pro1162Leu)	VWF (P1162L)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 256668	NM_000552.5(VWF):c.3426T>C (p.Cys1142=)	VWF	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign/Likely benign
Select item 256667	NM_000552.5(VWF):c.3414C>T (p.Asn1138=)	VWF	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign/Likely benign
Select item 256665	NM_000552.5(VWF):c.3379+13G>A	VWF	Single nucleotide variant (intron variant)	von Willebrand disease type 3 +5 more	GBenign/Likely benign
Select item 310071	NM_000552.5(VWF):c.3379+12C>T	VWF	Single nucleotide variant (intron variant)	Hereditary von Willebrand disease	GUncertain significance
Select item 256666	NM_000552.5(VWF):c.3379+7A>C	VWF	Single nucleotide variant (intron variant)	von Willebrand disease type 3 +5 more	GBenign
Select item 256664	NM_000552.5(VWF):c.3258C>T (p.Tyr1086=)	VWF	Single nucleotide variant (synonymous variant)	von Willebrand disease type 3 +5 more	GBenign/Likely benign
Select item 256663	NM_000552.5(VWF):c.3240T>C (p.Tyr1080=)	VWF	Single nucleotide variant (synonymous variant)	von Willebrand disease type 1 +5 more	GBenign/Likely benign
Select item 310072	NM_000552.5(VWF):c.3162G>C (p.Thr1054=)	VWF	Single nucleotide variant (synonymous variant)	Hereditary von Willebrand disease	GUncertain significance
Select item 882848	NM_000552.5(VWF):c.2968-12T>C	VWF	Single nucleotide variant (intron variant)	Hereditary von Willebrand disease	GUncertain significance
Select item 195657	NM_000552.5(VWF):c.2880G>A (p.Arg960=)	VWF	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign/Likely benign
Select item 296	NM_000552.5(VWF):c.2561G>A (p.Arg854Gln)	VWF (R854Q)	Single nucleotide variant (missense variant)	von Willebrand disease type 2N +8 more	GPathogenic/Likely pathogenic
Select item 310073	NM_000552.5(VWF):c.2547-5C>T	VWF	Single nucleotide variant (intron variant)	Hereditary von Willebrand disease	GUncertain significance
Select item 100224	NM_000552.5(VWF):c.2451T>A (p.His817Gln)	VWF (H817Q)	Single nucleotide variant (missense variant)	von Willebrand disease type 3 +5 more	GBenign/Likely benign
Select item 256660	NM_000552.5(VWF):c.2385T>C (p.Tyr795=)	VWF	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign/Likely benign
Select item 256659	NM_000552.5(VWF):c.2365A>G (p.Thr789Ala)	VWF (T789A)	Single nucleotide variant (missense variant)	von Willebrand disease type 3 +5 more	GBenign/Likely benign

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