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)
single nucleotide variantNM_004360.5(CDH1):c.1565+1G>ACDH1Pathogenic166884966368849663GAcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_004360.5(CDH1):c.715G>A (p.Gly239Arg)CDH1Pathogenic/Likely pathogenic166884412768844127GAcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_004360.5(CDH1):c.1003C>T (p.Arg335Ter)CDH1Pathogenic166884575768845757CTreviewed by expert panel-
single nucleotide variantNM_004360.5(CDH1):c.2287G>T (p.Glu763Ter)CDH1Pathogenic166886219968862199GTreviewed by expert panel-
short repeatNM_004360.5(CDH1):c.2062_2063TG[1] (p.Cys688_Glu689delinsTer)CDH1Pathogenic166885742768857428CTGCcriteria provided, multiple submitters, no conflicts-
duplicationNM_004360.5(CDH1):c.521dup (p.Asn174fs)CDH1Pathogenic166884245568842456TTAreviewed by expert panel-
single nucleotide variantNM_004360.5(CDH1):c.1565+1G>TCDH1Pathogenic166884966368849663GTreviewed by expert panel-
single nucleotide variantNM_004360.5(CDH1):c.1921C>T (p.Gln641Ter)CDH1Pathogenic166885611368856113CTreviewed by expert panel-
single nucleotide variantNM_004360.5(CDH1):c.1147C>T (p.Gln383Ter)CDH1Pathogenic166884722568847225CTreviewed by expert panel-
single nucleotide variantNM_004360.5(CDH1):c.781G>T (p.Glu261Ter)CDH1Likely pathogenic166884419368844193GTreviewed by expert panelOMIM Allelic Variant:192090.0004