Knowledge base for genomic medicine in Japanese
遺伝性びまん性胃がん
腫瘍性疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
DeletionNM_004360.5(CDH1):c.2398del (p.Arg800fs)CDH1Pathogenic166886365668863656TCTreviewed by expert panelClinGen:CA281459
single nucleotide variantNM_004360.5(CDH1):c.1137G>A (p.Thr379=)CDH1Pathogenic166884616668846166GAreviewed by expert panelClinGen:CA186229,OMIM:192090.0020
single nucleotide variantNM_004360.5(CDH1):c.707C>A (p.Ser236Ter)CDH1Pathogenic166884411968844119CAreviewed by expert panelClinGen:CA298974
DuplicationNM_004360.5(CDH1):c.1979dup (p.Gly661_Asp662insTer)CDH1Pathogenic166885734368857344GGTreviewed by expert panelClinGen:CA298940
single nucleotide variantNM_004360.5(CDH1):c.60G>A (p.Trp20Ter)CDH1Pathogenic166877221168772211GAreviewed by expert panelClinGen:CA197127
single nucleotide variantNM_004360.5(CDH1):c.76G>T (p.Glu26Ter)CDH1Pathogenic166877222768772227GTreviewed by expert panelClinGen:CA186314
DeletionNM_004360.5(CDH1):c.202del (p.Tyr68fs)CDH1Pathogenic166883561168835611CTCreviewed by expert panelClinGen:CA191858
single nucleotide variantNM_004360.5(CDH1):c.1137+2T>CCDH1Likely pathogenic166884616868846168TCreviewed by expert panelClinGen:CA194301
single nucleotide variantNM_004360.5(CDH1):c.1565+5G>ACDH1Likely pathogenic166884966768849667GAreviewed by expert panelClinGen:CA190759
single nucleotide variantNM_004360.5(CDH1):c.1711G>A (p.Gly571Ser)CDH1Likely pathogenic166885332868853328GAcriteria provided, single submitterClinGen:CA192333