Knowledge base for genomic medicine in Japanese
マッカードル病
小児・神経疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
single nucleotide variantNM_005609.4(PYGM):c.1768+1G>APYGMPathogenic/Likely pathogenic116451939564519395CTcriteria provided, multiple submitters, no conflictsClinGen:CA275011,OMIM:608455.0007
DuplicationNM_005609.4(PYGM):c.1466dup (p.Arg490fs)PYGMPathogenic116452059664520597AAGcriteria provided, multiple submitters, no conflictsClinGen:CA10603264
single nucleotide variantNM_005609.4(PYGM):c.2528G>T (p.Ter843Leu)PYGMLikely pathogenic116451413264514132CAcriteria provided, single submitterClinGen:CA16041492
single nucleotide variantNM_005609.4(PYGM):c.2352C>A (p.Cys784Ter)PYGMPathogenic/Likely pathogenic116451442064514420GTcriteria provided, multiple submitters, no conflictsClinGen:CA16041493
DeletionNM_005609.4(PYGM):c.2231_2244del (p.Glu744fs)PYGMLikely pathogenic116451476464514777CACTGCTCAGCTGCTCcriteria provided, single submitterClinGen:CA16041494
DuplicationNM_005609.4(PYGM):c.2136dup (p.Gly713fs)PYGMLikely pathogenic116451788864517889CCAcriteria provided, single submitterClinGen:CA16041495
single nucleotide variantNM_005609.4(PYGM):c.1970-1G>APYGMLikely pathogenic116451805664518056CTcriteria provided, single submitterClinGen:CA16041496
single nucleotide variantNM_005609.4(PYGM):c.1969+1G>TPYGMLikely pathogenic116451879664518796CAcriteria provided, single submitterClinGen:CA16041497
single nucleotide variantNM_005609.4(PYGM):c.1827+1G>CPYGMLikely pathogenic116451906864519068CGcriteria provided, single submitterClinGen:CA16041498
single nucleotide variantNM_005609.4(PYGM):c.1768+2T>GPYGMPathogenic/Likely pathogenic116451939464519394ACcriteria provided, multiple submitters, no conflictsClinGen:CA6079760