Knowledge base for genomic medicine in Japanese
フォンウィルブランド病
小児・神経疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
single nucleotide variantNM_000552.5(VWF):c.2446C>T (p.Arg816Trp)VWFPathogenic/Likely pathogenic1261456546145654GAcriteria provided, multiple submitters, no conflictsClinGen:CA114137,UniProtKB:P04275#VAR_005787,OMIM:613160.0012
single nucleotide variantNM_000552.5(VWF):c.2372C>T (p.Thr791Met)VWFPathogenic/Likely pathogenic1261535276153527GAcriteria provided, multiple submitters, no conflictsOMIM:613160.0011,ClinGen:CA114135,UniProtKB:P04275#VAR_005786
single nucleotide variantNM_000552.5(VWF):c.4022G>A (p.Arg1341Gln)VWFPathogenic1261285626128562CTcriteria provided, multiple submitters, no conflictsClinGen:CA114129,UniProtKB:P04275#VAR_005801,OMIM:613160.0008
single nucleotide variantNM_000552.5(VWF):c.3946G>A (p.Val1316Met)VWFPathogenic1261286386128638CTcriteria provided, multiple submitters, no conflictsClinGen:CA114127,UniProtKB:P04275#VAR_005798,OMIM:613160.0007
single nucleotide variantNM_000552.5(VWF):c.3922C>T (p.Arg1308Cys)VWFPathogenic1261286626128662GAcriteria provided, multiple submitters, no conflictsClinGen:CA114125,UniProtKB:P04275#VAR_005795,OMIM:613160.0006
single nucleotide variantNM_000552.5(VWF):c.3916C>T (p.Arg1306Trp)VWFPathogenic/Likely pathogenic1261286686128668GAcriteria provided, multiple submitters, no conflictsClinGen:CA114123,UniProtKB:P04275#VAR_005794,OMIM:613160.0005
single nucleotide variantNM_000552.5(VWF):c.4789C>T (p.Arg1597Trp)VWFPathogenic/Likely pathogenic1261277956127795GAcriteria provided, multiple submitters, no conflictsClinGen:CA114117,UniProtKB:P04275#VAR_005813,OMIM:613160.0002
single nucleotide variantNM_000552.5(VWF):c.4883T>C (p.Ile1628Thr)VWFPathogenic1261277016127701AGcriteria provided, multiple submitters, no conflictsClinGen:CA114115,UniProtKB:P04275#VAR_005817,OMIM:613160.0001