糖原病II型 (ポンペ病)

小児・神経疾患

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Type	Name	Gene Symbol	Clinical Significance	Chromosome	Start	Stop	Reference Allele	Alternate Allele	Review Status	Other IDs
Type	Name	Gene Symbol	Clinical Significance	Chromosome	(GRCh37)		Reference Allele	Alternate Allele	Review Status	Other IDs
Deletion	NM_000152.5(GAA):c.2707_2709del (p.Lys903del)	GAA	Likely pathogenic	17	78092510	78092512	CAGA	C	criteria provided, single submitter	ClinGen:CA116607,OMIM:606800.0007
single nucleotide variant	NM_000152.5(GAA):c.896T>G (p.Leu299Arg)	GAA	Likely pathogenic	17	78081636	78081636	T	G	reviewed by expert panel	UniProtKB:P10253#VAR_004288,OMIM:606800.0008,ClinGen:CA116601