Knowledge base for genomic medicine in Japanese
フォンウィルブランド病
小児・神経疾患
Excelでダウンロード
表のタイトル行が青色の項目は、クリックすることでソートすることができます。
TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
single nucleotide variantNM_000552.4(VWF):c.2443-1G>CVWFLikely pathogenic1261456586145658CGcriteria provided, single submitter-
single nucleotide variantNM_000552.4(VWF):c.2447G>A (p.Arg816Gln)VWFLikely pathogenic1261456536145653CTcriteria provided, multiple submitters, no conflicts-
deletionNM_000552.4(VWF):c.2516del (p.Gly839fs)VWFLikely pathogenic1261455846145584TCTcriteria provided, single submitter-
single nucleotide variantNM_000552.4(VWF):c.3359G>C (p.Trp1120Ser)VWFLikely pathogenic1261328176132817CGcriteria provided, single submitter-
single nucleotide variantNM_000552.4(VWF):c.3379+1G>AVWFPathogenic1261327966132796CTcriteria provided, single submitter-
single nucleotide variantNM_000552.4(VWF):c.3430T>G (p.Trp1144Gly)VWFPathogenic1261320146132014ACcriteria provided, single submitter-
single nucleotide variantNM_000552.4(VWF):c.3467C>T (p.Thr1156Met)VWFLikely pathogenic1261319776131977GAcriteria provided, single submitter-
single nucleotide variantNM_000552.4(VWF):c.3538G>A (p.Gly1180Arg)VWFPathogenic1261319066131906CTcriteria provided, single submitter-
single nucleotide variantNM_000552.4(VWF):c.3568T>C (p.Cys1190Arg)VWFLikely pathogenic1261311726131172AGcriteria provided, single submitter-
single nucleotide variantNM_000552.4(VWF):c.3797C>A (p.Pro1266Gln)VWFLikely pathogenic1261287876128787GTcriteria provided, single submitter-