Knowledge base for genomic medicine in Japanese
糖原病II型 (ポンペ病)
小児・神経疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
single nucleotide variantNM_000152.5(GAA):c.1832G>A (p.Gly611Asp)GAALikely pathogenic177808645478086454GAreviewed by expert panelClinGen:CA16041897
single nucleotide variantNM_000152.5(GAA):c.1856G>A (p.Ser619Asn)GAAPathogenic/Likely pathogenic177808647878086478GAcriteria provided, multiple submitters, no conflictsClinGen:CA8815500
single nucleotide variantNM_000152.5(GAA):c.2015G>A (p.Arg672Gln)GAALikely pathogenic177808680178086801GAreviewed by expert panelClinGen:CA8815566
single nucleotide variantNM_000152.5(GAA):c.2040+1G>TGAAPathogenic/Likely pathogenic177808682778086827GTcriteria provided, multiple submitters, no conflictsClinGen:CA16041898
DeletionNM_000152.5(GAA):c.2185del (p.Leu729fs)GAAPathogenic177808716078087160TCTreviewed by expert panelClinGen:CA16041899
single nucleotide variantNM_000152.5(GAA):c.2213G>A (p.Trp738Ter)GAAPathogenic/Likely pathogenic177809079078090790GAcriteria provided, multiple submitters, no conflictsClinGen:CA16041900
single nucleotide variantNM_000152.5(GAA):c.2214G>A (p.Trp738Ter)GAAPathogenic177809079178090791GAreviewed by expert panelClinGen:CA16041901
single nucleotide variantNM_000152.5(GAA):c.2227C>T (p.Gln743Ter)GAAPathogenic/Likely pathogenic177809080478090804CTcriteria provided, multiple submitters, no conflictsClinGen:CA16041902
single nucleotide variantNM_000152.5(GAA):c.2238G>A (p.Trp746Ter)GAAPathogenic177809081578090815GAreviewed by expert panelClinGen:CA8815666
single nucleotide variantNM_000152.5(GAA):c.2242G>T (p.Glu748Ter)GAAPathogenic177809081978090819GTreviewed by expert panelClinGen:CA16041903