Knowledge base for genomic medicine in Japanese
リンチ症候群
腫瘍性疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
DeletionNM_000251.3(MSH2):c.1984_1985del (p.Gln662fs)MSH2Pathogenic24770238747702388AACAreviewed by expert panelClinGen:CA019642
DeletionNM_000251.3(MSH2):c.1986_1987del (p.Gln662fs)MSH2Pathogenic24770238947702390CAGCreviewed by expert panelClinGen:CA019651
DeletionNM_000251.3(MSH2):c.1986del (p.Met663fs)MSH2Pathogenic24770239047702390AGAreviewed by expert panelClinGen:CA019657
DeletionNM_000251.3(MSH2):c.1996_1997del (p.Ile666fs)MSH2Pathogenic24770240047702401CATCreviewed by expert panelClinGen:CA019677
single nucleotide variantNM_000251.3(MSH2):c.2005+1G>AMSH2Likely pathogenic24770241047702410GAreviewed by expert panelClinGen:CA019701
single nucleotide variantNM_000251.3(MSH2):c.2005+1G>CMSH2Likely pathogenic24770241047702410GCreviewed by expert panelClinGen:CA019708
single nucleotide variantNM_000251.3(MSH2):c.2005+1G>TMSH2Likely pathogenic24770241047702410GTreviewed by expert panelClinGen:CA019713
single nucleotide variantNM_000251.3(MSH2):c.2005+2T>CMSH2Pathogenic24770241147702411TCreviewed by expert panelClinGen:CA019723
DeletionNM_000251.3(MSH2):c.2005+2_2005+12delMSH2Likely pathogenic24770241047702420GGTAAAAAACCTGreviewed by expert panelClinGen:CA331420
DeletionNM_000251.3(MSH2):c.2005+2delMSH2Likely pathogenic24770241147702411GTGreviewed by expert panelClinGen:CA331421