Knowledge base for genomic medicine in Japanese
不整脈原性右室心筋症
循環器・内分泌疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
short repeatNM_002667.5(PLN):c.37_39AGA[1] (p.Arg14del)PLNPathogenic6118880120118880122TAAGTcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:172405.0003
deletionNM_004415.4(DSP):c.1146del (p.Phe382fs)DSPPathogenic675680147568014GTGcriteria provided, single submitter-
single nucleotide variantNM_004415.4(DSP):c.1273C>T (p.Arg425Ter)DSPPathogenic/Likely pathogenic675686767568676CTcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_004415.4(DSP):c.1650G>A (p.Trp550Ter)DSPLikely pathogenic675707457570745GAcriteria provided, single submitter-
duplicationNM_004415.4(DSP):c.2848dup (p.Ile950fs)DSPPathogenic/Likely pathogenic675772407577241CCAcriteria provided, multiple submitters, no conflicts-
deletionNM_004415.4(DSP):c.3160_3169del (p.Lys1054fs)DSPPathogenic675795807579589TAATAAGAACATcriteria provided, single submitter-
single nucleotide variantNM_004415.4(DSP):c.3829C>T (p.Gln1277Ter)DSPLikely pathogenic675802527580252CTcriteria provided, single submitter-
single nucleotide variantNM_004415.4(DSP):c.4531C>T (p.Gln1511Ter)DSPPathogenic675809547580954CTcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_004415.4(DSP):c.478C>T (p.Arg160Ter)DSPPathogenic/Likely pathogenic675595147559514CTcriteria provided, multiple submitters, no conflicts-
insertionNM_004415.4(DSP):c.534_535insA (p.Gly179fs)DSPLikely pathogenic675595707559571TTAcriteria provided, single submitter-