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.1A>T (p.Met1Leu)PYGMPathogenic116452737064527370TAcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_005609.4(PYGM):c.1A>C (p.Met1Leu)PYGMPathogenic116452737064527370TGcriteria provided, multiple submitters, no conflictsClinGen:CA270754,OMIM:608455.0004
single nucleotide variantNM_005609.4(PYGM):c.1A>G (p.Met1Val)PYGMPathogenic/Likely pathogenic116452737064527370TCcriteria provided, multiple submitters, no conflictsClinGen:CA252209,OMIM:608455.0012
DeletionNM_005609.4(PYGM):c.13_14del (p.Leu5fs)PYGMPathogenic116452735764527358CAGCcriteria provided, multiple submitters, no conflictsClinGen:CA6080393
DuplicationNM_005609.4(PYGM):c.21_28dup (p.Lys10fs)PYGMPathogenic/Likely pathogenic116452734264527343TTTCTCTTGGcriteria provided, multiple submitters, no conflicts-
DeletionNM_005609.4(PYGM):c.78_79del (p.Glu27fs)PYGMPathogenic/Likely pathogenic116452729264527293TCATcriteria provided, multiple submitters, no conflictsClinGen:CA273947
single nucleotide variantNM_005609.4(PYGM):c.148C>T (p.Arg50Ter)PYGMPathogenic116452722364527223GAcriteria provided, multiple submitters, no conflictsClinGen:CA222884,OMIM:608455.0001
single nucleotide variantNM_005609.4(PYGM):c.152A>G (p.Asp51Gly)PYGMLikely pathogenic116452721964527219TCcriteria provided, single submitterClinGen:CA261238,OMIM:608455.0020
DeletionNM_005609.4(PYGM):c.198del (p.Arg67fs)PYGMLikely pathogenic116452717364527173GCGcriteria provided, single submitter-
single nucleotide variantNM_005609.4(PYGM):c.204G>A (p.Trp68Ter)PYGMLikely pathogenic116452716764527167CTcriteria provided, single submitterClinGen:CA16041507