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.655G>A (p.Gly219Arg)	GAA	Pathogenic	17	78079656	78079656	G	A	reviewed by expert panel	ClinGen:CA274334,UniProtKB:P10253#VAR_018079
single nucleotide variant	NM_000152.5(GAA):c.670C>T (p.Arg224Trp)	GAA	Pathogenic	17	78079671	78079671	C	T	reviewed by expert panel	ClinGen:CA274477,UniProtKB:P10253#VAR_029026
Indel	NM_000152.5(GAA):c.766_785delinsC (p.Tyr256fs)	GAA	Pathogenic	17	78081429	78081448	TATATCACAGGCCTCGCCGA	C	reviewed by expert panel	ClinGen:CA274073
single nucleotide variant	NM_000152.5(GAA):c.784G>A (p.Glu262Lys)	GAA	Pathogenic	17	78081447	78081447	G	A	reviewed by expert panel	ClinGen:CA273984,UniProtKB:P10253#VAR_029028
single nucleotide variant	NM_000152.5(GAA):c.925G>A (p.Gly309Arg)	GAA	Pathogenic	17	78081665	78081665	G	A	reviewed by expert panel	ClinGen:CA273972,UniProtKB:P10253#VAR_018084
Deletion	NM_000152.5(GAA):c.1051del (p.Val351fs)	GAA	Pathogenic	17	78082183	78082183	TG	T	reviewed by expert panel	ClinGen:CA274024
Indel	NM_000152.5(GAA):c.1128_1129delinsC (p.Trp376fs)	GAA	Pathogenic	17	78082340	78082341	GG	C	reviewed by expert panel	ClinGen:CA274311
single nucleotide variant	NM_000152.5(GAA):c.1156C>T (p.Gln386Ter)	GAA	Pathogenic	17	78082368	78082368	C	T	reviewed by expert panel	ClinGen:CA274049
single nucleotide variant	NM_000152.5(GAA):c.1309C>T (p.Arg437Cys)	GAA	Pathogenic	17	78082610	78082610	C	T	reviewed by expert panel	ClinGen:CA274356,UniProtKB:P10253#VAR_029035
Deletion	NM_000152.5(GAA):c.1411_1414del (p.Glu471fs)	GAA	Pathogenic	17	78083828	78083831	CGAGA	C	reviewed by expert panel	ClinGen:CA274067