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
single nucleotide variant	NM_000152.5(GAA):c.1561G>A (p.Glu521Lys)	GAA	Pathogenic/Likely pathogenic	17	78084749	78084749	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA116593,UniProtKB:P10253#VAR_004295,OMIM:606800.0003
single nucleotide variant	NM_000152.5(GAA):c.953T>C (p.Met318Thr)	GAA	Pathogenic	17	78081693	78081693	T	C	reviewed by expert panel	ClinGen:CA116590,UniProtKB:P10253#VAR_004289,OMIM:606800.0002