Knowledge base for genomic medicine in Japanese
シャルコー・マリー・トゥース病
小児・神経疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
single nucleotide variantNM_021629.4(GNB4):c.158G>A (p.Gly53Asp)GNB4Likely pathogenic3179137232179137232CTcriteria provided, single submitterClinGen:CA130933,UniProtKB:Q9HAV0#VAR_069908,OMIM:610863.0001
single nucleotide variantNM_021629.4(GNB4):c.229G>A (p.Gly77Arg)GNB4Pathogenic/Likely pathogenic3179134319179134319CTcriteria provided, multiple submitters, no conflictsClinGen:CA355470461
single nucleotide variantNM_021629.4(GNB4):c.265A>G (p.Lys89Glu)GNB4Pathogenic3179134283179134283TCcriteria provided, single submitterClinGen:CA130934,UniProtKB:Q9HAV0#VAR_069909,OMIM:610863.0002
DuplicationNM_000530.8(MPZ):c.-23_8dup (p.Ala5fs)MPZPathogenic1161279687161279688AAGGAGCCATAGCTGGGGCAGGGGCAGGGGCCCcriteria provided, single submitterClinGen:CA645293790
DeletionNM_000530.8(MPZ):c.26del (p.Ser9fs)MPZLikely pathogenic1161279670161279670GCGcriteria provided, single submitterClinGen:CA16617017
single nucleotide variantNM_000530.8(MPZ):c.67+1G>AMPZPathogenic1161279628161279628CTcriteria provided, single submitterClinGen:CA343352876
single nucleotide variantNM_000530.8(MPZ):c.68-1G>AMPZPathogenic/Likely pathogenic1161277215161277215CTcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000530.8(MPZ):c.68-1G>CMPZPathogenic1161277215161277215CGcriteria provided, single submitterClinGen:CA16042314
DeletionNM_000530.8(MPZ):c.77del (p.Pro26fs)MPZPathogenic1161277205161277205CGCcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000530.8(MPZ):c.89T>G (p.Ile30Ser)MPZLikely pathogenic1161277193161277193ACcriteria provided, single submitter-