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.2213G>A (p.Trp738Ter)	GAA	Pathogenic/Likely pathogenic	17	78090790	78090790	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041900
single nucleotide variant	NM_000152.5(GAA):c.2189+1G>T	GAA	Likely pathogenic	17	78087166	78087166	G	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000152.5(GAA):c.2188G>T (p.Glu730Ter)	GAA	Pathogenic	17	78087164	78087164	G	T	reviewed by expert panel	ClinGen:CA401370663
Deletion	NM_000152.5(GAA):c.2185del (p.Leu729fs)	GAA	Pathogenic	17	78087160	78087160	TC	T	reviewed by expert panel	ClinGen:CA16041899
single nucleotide variant	NM_000152.5(GAA):c.2173C>T (p.Arg725Trp)	GAA	Pathogenic	17	78087149	78087149	C	T	criteria provided, multiple submitters, no conflicts	OMIM:606800.0005,ClinGen:CA116598,UniProtKB:P10253#VAR_004310
Duplication	NM_000152.5(GAA):c.2161dup (p.Glu721fs)	GAA	Likely pathogenic	17	78087132	78087133	C	CG	reviewed by expert panel	-
Deletion	NM_000152.5(GAA):c.2140del (p.His714fs)	GAA	Pathogenic	17	78087115	78087115	TC	T	reviewed by expert panel	ClinGen:CA274107
Deletion	NM_000152.5(GAA):c.2136_2137del (p.Phe713fs)	GAA	Pathogenic	17	78087111	78087112	CTG	C	reviewed by expert panel	-
single nucleotide variant	NM_000152.5(GAA):c.2105G>A (p.Arg702His)	GAA	Pathogenic/Likely pathogenic	17	78087081	78087081	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA8815610
single nucleotide variant	NM_000152.5(GAA):c.2105G>T (p.Arg702Leu)	GAA	Pathogenic/Likely pathogenic	17	78087081	78087081	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA220396,UniProtKB:P10253#VAR_068626