Knowledge base for genomic medicine in Japanese
リンチ症候群
腫瘍性疾患
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_003242.6(TGFBR2):c.1495G>T (p.Glu499Ter)TGFBR2Likely pathogenic33072997430729974GTcriteria provided, single submitter-
single nucleotide variantNM_000179.2(MSH6):c.755C>G (p.Ser252Ter)MSH6Pathogenic24802587748025877CGreviewed by expert panel-
deletionNM_001281493.1(MSH6):c.-145_-144delMSH6Pathogenic24802588448025885CTGCreviewed by expert panel-
deletionNM_001354624.1(MLH1):c.-25delMLH1Pathogenic33706713937067139CACreviewed by expert panel-
deletionNM_001354624.1(MLH1):c.-14delMLH1Pathogenic33706714937067149TGTreviewed by expert panel-
deletionNM_001354624.1(MLH1):c.-4_4del (p.Met1fs)MLH1Pathogenic33706715737067164CTGGGGAGACreviewed by expert panel-
deletionNM_000179.2(MSH6):c.-11863_457+1921delMSH6Pathogenic24799851048020183nanareviewed by expert panel-
deletionNM_000179.2(MSH6):c.(?_-152)_(*93_?)delMSH6Pathogenic24801022148034092nanareviewed by expert panel-
deletionNM_000179.2(MSH6):c.(?_-152)_457+?delMSH6Pathogenic24801022148018262nanareviewed by expert panel-
deletionNM_000179.2(MSH6):c.-3097_457+2010delMSH6Pathogenic24800727648020272nanareviewed by expert panel-