Knowledge base for genomic medicine in Japanese
家族性大腸腺腫症
腫瘍性疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
single nucleotide variantNM_002528.7(NTHL1):c.115+1G>ANTHL1Pathogenic/Likely pathogenic1620977092097709CTcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_002528.7(NTHL1):c.526-1G>ANTHL1Pathogenic/Likely pathogenic1620937282093728CTcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_002439.5(MSH3):c.2436-1G>AMSH3Pathogenic/Likely pathogenic58008338380083383GAcriteria provided, multiple submitters, no conflicts-
DuplicationNM_002528.7(NTHL1):c.350dup (p.Val119fs)NTHL1Pathogenic/Likely pathogenic1620961322096133TTGcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_002528.7(NTHL1):c.433C>T (p.Arg145Ter)NTHL1Pathogenic/Likely pathogenic1620947232094723GAcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_002439.5(MSH3):c.2686G>T (p.Gly896Ter)MSH3Pathogenic/Likely pathogenic58010943380109433GTcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_002439.5(MSH3):c.1256C>G (p.Ser419Ter)MSH3Pathogenic/Likely pathogenic57997482879974828CGcriteria provided, multiple submitters, no conflicts-
DuplicationNM_002439.5(MSH3):c.1060dup (p.Val354fs)MSH3Pathogenic/Likely pathogenic57997083379970834TTGcriteria provided, multiple submitters, no conflicts-
DeletionNM_002439.5(MSH3):c.978_984del (p.Phe326fs)MSH3Pathogenic/Likely pathogenic57996862879968634TTTCCCGGTcriteria provided, multiple submitters, no conflicts-
DeletionNM_002439.5(MSH3):c.586del (p.Thr196fs)MSH3Pathogenic/Likely pathogenic57996592179965921CACcriteria provided, multiple submitters, no conflicts-