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.365del (p.Met122fs)	GAA	Pathogenic	17	78078750	78078750	AT	A	reviewed by expert panel	ClinGen:CA274330
single nucleotide variant	NM_000152.5(GAA):c.352C>T (p.Gln118Ter)	GAA	Pathogenic	17	78078737	78078737	C	T	reviewed by expert panel	-
single nucleotide variant	NM_000152.5(GAA):c.343C>T (p.Gln115Ter)	GAA	Pathogenic	17	78078728	78078728	C	T	reviewed by expert panel	ClinGen:CA274228
Deletion	NM_000152.5(GAA):c.342del (p.Lys114fs)	GAA	Likely pathogenic	17	78078727	78078727	AG	A	reviewed by expert panel	ClinGen:CA658798976
single nucleotide variant	NM_000152.5(GAA):c.307T>G (p.Cys103Gly)	GAA	Pathogenic	17	78078692	78078692	T	G	reviewed by expert panel	ClinGen:CA220404,UniProtKB:P10253#VAR_018078
Deletion	NM_000152.5(GAA):c.281_282del (p.Pro94fs)	GAA	Likely pathogenic	17	78078666	78078667	CCT	C	reviewed by expert panel	ClinGen:CA16041881
single nucleotide variant	NM_000152.5(GAA):c.276C>A (p.Cys92Ter)	GAA	Likely pathogenic	17	78078661	78078661	C	A	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	-
Duplication	NM_000152.5(GAA):c.258dup (p.Asn87fs)	GAA	Pathogenic	17	78078636	78078637	T	TC	reviewed by expert panel	ClinGen:CA8814826
single nucleotide variant	NM_000152.5(GAA):c.241C>T (p.Gln81Ter)	GAA	Pathogenic	17	78078626	78078626	C	T	reviewed by expert panel	-