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)
single nucleotide variantNM_024854.5(PYROXD1):c.464A>G (p.Asn155Ser)PYROXD1Pathogenic122160506421605064AGcriteria provided, single submitterOMIM Allelic Variant:617220.0003
single nucleotide variantNM_001289808.2(CRYAB):c.326A>G (p.Asp109Gly)CRYABLikely pathogenic11111779690111779690TCcriteria provided, single submitter-
single nucleotide variantNM_001289808.2(CRYAB):c.320G>T (p.Arg107Leu)CRYABPathogenic11111781055111781055CAcriteria provided, single submitter-
deletionNM_001289808.2(CRYAB):c.343del (p.Ser115fs)CRYABPathogenic/Likely pathogenic11111779673111779673GAGcriteria provided, multiple submitters, no conflicts-
duplicationNM_004281.3(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_004281.3(BAG3):c.20C>A (p.Ser7Ter)BAG3Likely pathogenic10121411207121411207CAcriteria provided, single submitter-
single nucleotide variantNM_004281.3(BAG3):c.537C>A (p.Cys179Ter)BAG3Pathogenic10121431796121431796CAcriteria provided, single submitter-
duplicationNM_004281.3(BAG3):c.277dup (p.Tyr93fs)BAG3Pathogenic10121429458121429459CCTcriteria provided, single submitter-
single nucleotide variantNM_004281.3(BAG3):c.146G>A (p.Trp49Ter)BAG3Pathogenic10121411333121411333GAcriteria provided, single submitter-