"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "VWF"[gene] - ClinVar

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Items: 68

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 619761	NM_000552.5(VWF):c.8325T>C (p.Ser2775=)	VWF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 806783	NM_000552.5(VWF):c.8175C>T (p.Asn2725=)	VWF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2642601	NM_000552.5(VWF):c.8094A>G (p.Glu2698=)	VWF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 806785	NM_000552.5(VWF):c.8079C>T (p.Cys2693=)	VWF	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely 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 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 1675477	NM_000552.5(VWF):c.7706C>A (p.Ala2569Glu)	VWF (A2569E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 806789	NM_000552.5(VWF):c.7292G>A (p.Cys2431Tyr)	VWF (C2431Y)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 310043	NM_000552.5(VWF):c.7082-13G>C	VWF	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 100450	NM_000552.5(VWF):c.6859C>T (p.Arg2287Trp)	VWF (R2287W)	Single nucleotide variant (missense variant)	von Willebrand disease type 1 +4 more	GUncertain significance
Select item 2642602	NM_000552.5(VWF):c.6825C>T (p.His2275=)	VWF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 310050	NM_000552.5(VWF):c.6756G>A (p.Glu2252=)	VWF	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 619942	NM_000552.5(VWF):c.6532G>T (p.Ala2178Ser)	VWF (A2178S)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2672488	NM_000552.5(VWF):c.6403G>A (p.Asp2135Asn)	VWF (D2135N)	Single nucleotide variant (missense variant)	not provided	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 256689	NM_000552.5(VWF):c.6099C>T (p.Tyr2033=)	VWF	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 806792	NM_000552.5(VWF):c.5866C>T (p.Arg1956Trp)	VWF (R1956W)	Single nucleotide variant (missense variant)	von Willebrand disease type 1 +1 more	GUncertain significance
Select item 619971	NM_000552.5(VWF):c.5851A>G (p.Thr1951Ala)	VWF (T1951A)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 2642603	NM_000552.5(VWF):c.5700C>T (p.His1900=)	VWF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 806794	NM_000552.5(VWF):c.5312-19A>C	VWF	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 100422	NM_000552.5(VWF):c.5278G>A (p.Val1760Ile)	VWF (V1760I)	Single nucleotide variant (missense variant)	VWF-related condition +2 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 439342	NM_000552.5(VWF):c.4824C>T (p.Thr1608=)	VWF	Single nucleotide variant (synonymous variant)	von Willebrand disease type 2 +3 more	GBenign/Likely benign
Select item 439341	NM_000552.5(VWF):c.4800G>A (p.Ala1600=)	VWF	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 310	NM_000552.5(VWF):c.4751A>G (p.Tyr1584Cys)	VWF (Y1584C)	Single nucleotide variant (missense variant)	VWF-related condition +7 more	GConflicting classifications of pathogenicity; risk factor
Select item 2642604	NM_000552.5(VWF):c.4500G>A (p.Ala1500=)	VWF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2642605	NM_000552.5(VWF):c.4431T>C (p.Thr1477=)	VWF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2642606	NM_000552.5(VWF):c.4206G>A (p.Gln1402=)	VWF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 293	NM_000552.5(VWF):c.4196G>A (p.Arg1399His)	VWF (R1399H)	Single nucleotide variant (missense variant)	VWF-related condition +3 more	GConflicting classifications of pathogenicity
Select item 801305	NM_000552.5(VWF):c.4173A>G (p.Gln1391=)	VWF	Single nucleotide variant (synonymous variant)	not provided	GLikely 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 2642607	NM_000552.5(VWF):c.4049C>T (p.Ala1350Val)	VWF (A1350V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 290	NM_000552.5(VWF):c.3946G>A (p.Val1316Met)	VWF (V1316M)	Single nucleotide variant (missense variant)	von Willebrand disease type 3 +6 more	GPathogenic
Select item 1065216	NM_000552.5(VWF):c.3940del (p.Val1314fs)	VWF (V1314fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 100303	NM_000552.5(VWF):c.3923G>A (p.Arg1308His)	VWF (R1308H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 806798	NM_000552.5(VWF):c.3837C>T (p.Val1279=)	VWF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 100288	NM_000552.5(VWF):c.3835G>A (p.Val1279Ile)	VWF (V1279I)	Single nucleotide variant (missense variant)	von Willebrand disease type 1 +5 more	GConflicting classifications of pathogenicity
Select item 100279	NM_000552.5(VWF):c.3797C>A (p.Pro1266Gln)	VWF (P1266Q)	Single nucleotide variant (missense variant)	von Willebrand disease type 1 +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)	VWF-related condition +5 more	GConflicting classifications of pathogenicity
Select item 256674	NM_000552.5(VWF):c.3789G>A (p.Ser1263=)	VWF	Single nucleotide variant (synonymous variant)	von Willebrand disease type 3 +4 more	GBenign/Likely benign
Select item 2682107	NM_000552.5(VWF):c.3735G>A (p.Val1245=)	VWF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 806802	NM_000552.5(VWF):c.3144C>T (p.Asn1048=)	VWF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 802812	NM_000552.5(VWF):c.3101_3103del (p.Thr1034del)	VWF (T1034del)	Deletion (inframe_deletion)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 100240	NM_000552.5(VWF):c.2771G>A (p.Arg924Gln)	VWF (R924Q)	Single nucleotide variant (missense variant)	von Willebrand disease type 2 +4 more	GConflicting classifications of pathogenicity
Select item 1336650	NM_000552.5(VWF):c.2739A>C (p.Gly913=)	VWF	Single nucleotide variant (synonymous variant)	not specified +4 more	GLikely benign
Select item 1335095	NM_000552.5(VWF):c.2694C>T (p.Cys898=)	VWF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 439329	NM_000552.5(VWF):c.2586G>T (p.Val862=)	VWF	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 296	NM_000552.5(VWF):c.2561G>A (p.Arg854Gln)	VWF (R854Q)	Single nucleotide variant (missense variant)	VWF-related condition +8 more	GPathogenic/Likely pathogenic
Select item 100228	NM_000552.5(VWF):c.2560C>T (p.Arg854Trp)	VWF (R854W)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 303	NM_000552.5(VWF):c.2435del (p.Pro812fs)	VWF (P812fs)	Deletion (frameshift variant)	von Willebrand disease type 2 +5 more	GPathogenic
Select item 2642608	NM_000552.5(VWF):c.2389C>T (p.Leu797=)	VWF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 256659	NM_000552.5(VWF):c.2365A>G (p.Thr789Ala)	VWF (T789A)	Single nucleotide variant (missense variant)	von Willebrand disease type 2 +5 more	GBenign/Likely benign
Select item 806803	NM_000552.5(VWF):c.2009G>A (p.Arg670His)	VWF (R670H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 310084	NM_000552.5(VWF):c.1596C>T (p.Gly532=)	VWF	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 806805	NM_000552.5(VWF):c.1534-6C>A	VWF	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1163931	NM_000552.5(VWF):c.1519A>G (p.Arg507Gly)	VWF (R507G)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 806807	NM_000552.5(VWF):c.1467C>T (p.Ser489=)	VWF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 310086	NM_000552.5(VWF):c.1077C>T (p.Pro359=)	VWF	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2642609	NM_000552.5(VWF):c.1059C>T (p.Ser353=)	VWF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3067484	NM_000552.5(VWF):c.1008C>T (p.Leu336=)	VWF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 100512	NM_000552.5(VWF):c.970C>T (p.Arg324Ter)	VWF (R324*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 310088	NM_000552.5(VWF):c.858C>T (p.Thr286=)	VWF	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 256684	NM_000552.5(VWF):c.546G>A (p.Ser182=)	VWF	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 256677	NM_000552.5(VWF):c.391G>A (p.Gly131Ser)	VWF (G131S)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 100293	NM_000552.5(VWF):c.385C>A (p.Leu129Met)	VWF (L129M)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 310090	NM_000552.5(VWF):c.114C>T (p.Phe38=)	VWF	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity

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Items: 68