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.1857C>G (p.Ser619Arg)	GAA	Pathogenic	17	78086479	78086479	C	G	reviewed by expert panel	-
Deletion	NM_000152.5(GAA):c.2300del (p.Phe767fs)	GAA	Pathogenic	17	78090876	78090876	CT	C	reviewed by expert panel	-
single nucleotide variant	NM_000152.5(GAA):c.2407C>T (p.Gln803Ter)	GAA	Pathogenic	17	78091474	78091474	C	T	reviewed by expert panel	-
Deletion	NM_000152.5(GAA):c.258del (p.Asn87fs)	GAA	Likely pathogenic	17	78078637	78078637	TC	T	reviewed by expert panel	-
single nucleotide variant	NM_000152.5(GAA):c.352C>T (p.Gln118Ter)	GAA	Pathogenic	17	78078737	78078737	C	T	reviewed by expert panel	-
Deletion	NM_000152.5(GAA):c.379_380del (p.Cys127fs)	GAA	Pathogenic	17	78078763	78078764	GGT	G	reviewed by expert panel	-
single nucleotide variant	NM_000152.5(GAA):c.796C>T (p.Pro266Ser)	GAA	Likely pathogenic	17	78081459	78081459	C	T	reviewed by expert panel	-
single nucleotide variant	NM_000152.5(GAA):c.1099T>C (p.Trp367Arg)	GAA	Pathogenic/Likely pathogenic	17	78082311	78082311	T	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000152.5(GAA):c.1326+2T>C	GAA	Likely pathogenic	17	78082629	78082629	T	C	criteria provided, single submitter	-
single nucleotide variant	NM_000152.5(GAA):c.1978C>T (p.Arg660Cys)	GAA	Pathogenic	17	78086764	78086764	C	T	reviewed by expert panel	-