Knowledge base for genomic medicine in Japanese
多発性嚢胞腎
循環器・内分泌疾患
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_016306.5(DNAJB11):c.616C>T (p.Arg206Ter)DNAJB11Pathogenic3186299800186299800CTcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:611341.0005
single nucleotide variantNM_016306.5(DNAJB11):c.230T>C (p.Leu77Pro)DNAJB11Likely pathogenic3186293633186293633TCcriteria provided, single submitterOMIM Allelic Variant:611341.0004
single nucleotide variantNM_016306.5(DNAJB11):c.161C>G (p.Pro54Arg)DNAJB11Likely pathogenic3186289976186289976CGcriteria provided, single submitterOMIM Allelic Variant:611341.0001
single nucleotide variantNM_000297.4(PKD2):c.2614C>T (p.Arg872Ter)PKD2Pathogenic48899605588996055CTcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000297.4(PKD2):c.2600T>C (p.Leu867Pro)PKD2Likely pathogenic48899604188996041TCcriteria provided, single submitter-
duplicationNM_000297.4(PKD2):c.2568dup (p.Val857fs)PKD2Likely pathogenic48899600888996009TTAcriteria provided, single submitter-
single nucleotide variantNM_000297.4(PKD2):c.2533C>T (p.Arg845Ter)PKD2Pathogenic48899597488995974CTcriteria provided, multiple submitters, no conflicts-
deletionNM_000297.4(PKD2):c.2527del (p.Leu842_Val843insTer)PKD2Pathogenic48899596788995967TGTcriteria provided, single submitter-
single nucleotide variantNM_000297.4(PKD2):c.2523-1G>APKD2Pathogenic48899596388995963GAcriteria provided, single submitter-
single nucleotide variantNM_000297.4(PKD2):c.2407C>T (p.Arg803Ter)PKD2Pathogenic48898909888989098CTcriteria provided, multiple submitters, no conflicts-