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.1107del (p.Asn369fs)CDH1Pathogenic166884613668846136ACAreviewed by expert panel-
DeletionNM_004360.5(CDH1):c.1170del (p.Asn390fs)CDH1Pathogenic166884724868847248ACAreviewed by expert panel-
single nucleotide variantNM_004360.5(CDH1):c.687+1G>ACDH1Likely pathogenic166884275268842752GAreviewed by expert panel-
DeletionNC_000016.10:g.(?_68738291)_(68738417_?)delCDH1Pathogenic166877219468772320nanacriteria provided, single submitter-
DeletionNC_000016.10:g.(?_68737406)_(68738421_?)delCDH1Pathogenic166877130968772324nanacriteria provided, single submitter-
DeletionNM_004360.5(CDH1):c.1993del (p.Ile665fs)CDH1Pathogenic166885735568857355CACreviewed by expert panel-
DeletionNM_004360.5(CDH1):c.833-8_836delCDH1Likely pathogenic166884557568845586TGAACTCTTCCAGTcriteria provided, single submitter-
DeletionNC_000016.10:g.(?_68833280)_(68833509_?)delCDH1Pathogenic166886718368867412nanacriteria provided, single submitter-
single nucleotide variantNM_004360.5(CDH1):c.12G>A (p.Trp4Ter)CDH1Pathogenic166877133068771330GAreviewed by expert panel-
DeletionNM_004360.5(CDH1):c.2276del (p.Gly759fs)CDH1Pathogenic166886218768862187AGAreviewed by expert panel-