Knowledge base for genomic medicine in Japanese
ブルガダ症候群
循環器・内分泌疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
single nucleotide variantNM_001005242.3(PKP2):c.1132C>T (p.Gln378Ter)PKP2Pathogenic123302189933021899GAcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_001005242.3(PKP2):c.1170+2T>APKP2Pathogenic/Likely pathogenic123302185933021859ATcriteria provided, multiple submitters, no conflicts-
duplicationNM_001005242.3(PKP2):c.1211dup (p.Val406fs)PKP2Pathogenic123300386633003867TTAcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_001005242.3(PKP2):c.1237C>T (p.Arg413Ter)PKP2Pathogenic123300384133003841GAcriteria provided, multiple submitters, no conflicts-
deletionNM_004572.3(PKP2):c.1369_1372del (p.Lys456_Gln457insTer)PKP2Likely pathogenic123300370633003709ATTTGAcriteria provided, single submitter-
single nucleotide variantNM_001005242.3(PKP2):c.1378+1G>CPKP2Pathogenic/Likely pathogenic123300369933003699CGcriteria provided, multiple submitters, no conflicts-
deletionNM_004572.3(PKP2):c.14del (p.Gly5fs)PKP2Pathogenic/Likely pathogenic123304965233049652GCGcriteria provided, multiple submitters, no conflicts-
deletionNM_001005242.2(PKP2):c.148_151del (p.Thr50fs)PKP2Pathogenic123304951533049518ACTGTAcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_001005242.3(PKP2):c.1556+1G>APKP2Pathogenic/Likely pathogenic123299396132993961CTcriteria provided, multiple submitters, no conflicts-
deletionNM_004572.3(PKP2):c.1709del (p.Ala570fs)PKP2Likely pathogenic123297707632977076AGAcriteria provided, single submitter-