Knowledge base for genomic medicine in Japanese
筋原線維性ミオパチー
小児・神経疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
DuplicationNM_004281.4(BAG3):c.1418dup (p.Ala474fs)BAG3Likely pathogenic10121436483121436484CCGcriteria provided, single submitter-
DeletionNM_004281.4(BAG3):c.339del (p.Tyr114fs)BAG3Likely pathogenic10121429521121429521TCTcriteria provided, single submitter-
single nucleotide variantNM_004281.4(BAG3):c.1417C>T (p.Arg473Ter)BAG3Likely pathogenic10121436483121436483CTcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_004281.4(BAG3):c.20C>A (p.Ser7Ter)BAG3Likely pathogenic10121411207121411207CAcriteria provided, single submitter-
single nucleotide variantNM_004281.4(BAG3):c.537C>A (p.Cys179Ter)BAG3Pathogenic10121431796121431796CAcriteria provided, single submitter-
DuplicationNM_004281.4(BAG3):c.277dup (p.Tyr93fs)BAG3Pathogenic10121429458121429459CCTcriteria provided, single submitter-
single nucleotide variantNM_004281.4(BAG3):c.146G>A (p.Trp49Ter)BAG3Pathogenic10121411333121411333GAcriteria provided, single submitter-
DeletionNM_004281.4(BAG3):c.1034_1038del (p.Glu345fs)BAG3Pathogenic10121436099121436103AGAGGTAcriteria provided, single submitterClinGen:CA658797543
single nucleotide variantNM_004281.4(BAG3):c.262C>T (p.Gln88Ter)BAG3Pathogenic10121429444121429444CTcriteria provided, multiple submitters, no conflictsClinGen:CA378294747
single nucleotide variantNM_004281.4(BAG3):c.77G>A (p.Trp26Ter)BAG3Pathogenic/Likely pathogenic10121411264121411264GAcriteria provided, multiple submitters, no conflictsClinGen:CA378294121