Knowledge base for genomic medicine in Japanese
糖原病II型 (ポンペ病)
小児・神経疾患
Excelでダウンロード
表のタイトル行が青色の項目は、クリックすることでソートすることができます。
TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
single nucleotide variantNM_000152.5(GAA):c.1004G>A (p.Gly335Glu)GAAPathogenic177808213778082137GAcriteria provided, single submitterClinGen:CA273683,UniProtKB:P10253#VAR_068589
DuplicationNM_000152.5(GAA):c.2078dup (p.Ala694fs)GAAPathogenic177808705378087054CCAcriteria provided, single submitterClinGen:CA273685
single nucleotide variantNM_000152.5(GAA):c.896T>C (p.Leu299Pro)GAAPathogenic177808163678081636TCreviewed by expert panelClinGen:CA273686
single nucleotide variantNM_000152.5(GAA):c.1437G>A (p.Lys479=)GAALikely pathogenic177808385478083854GAcriteria provided, single submitterClinGen:CA275914
single nucleotide variantNM_000152.5(GAA):c.2237G>C (p.Trp746Ser)GAAPathogenic/Likely pathogenic177809081478090814GCcriteria provided, multiple submitters, no conflictsClinGen:CA198797,UniProtKB:P10253#VAR_068632,ClinVar:561160
single nucleotide variantNM_000152.5(GAA):c.1A>G (p.Met1Val)GAAPathogenic/Likely pathogenic177807838678078386AGcriteria provided, multiple submitters, no conflictsClinGen:CA273952
single nucleotide variantNM_000152.5(GAA):c.172C>T (p.Gln58Ter)GAAPathogenic177807855778078557CTreviewed by expert panelClinGen:CA274104
single nucleotide variantNM_000152.5(GAA):c.343C>T (p.Gln115Ter)GAAPathogenic177807872878078728CTreviewed by expert panelClinGen:CA274228
DeletionNM_000152.5(GAA):c.365del (p.Met122fs)GAAPathogenic177807875078078750ATAreviewed by expert panelClinGen:CA274330
DeletionNM_000152.5(GAA):c.525_526del (p.Asn177fs)GAAPathogenic177807891078078911CTGCreviewed by expert panelClinGen:CA274328