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.393del (p.Ser132fs)	GAA	Likely pathogenic	17	78078776	78078776	AC	A	reviewed by expert panel	ClinGen:CA16041882
Deletion	NM_000152.5(GAA):c.471del (p.Thr158fs)	GAA	Likely pathogenic	17	78078852	78078852	AC	A	reviewed by expert panel	ClinGen:CA16041883
single nucleotide variant	NM_000152.5(GAA):c.546G>T (p.Thr182=)	GAA	Pathogenic	17	78078931	78078931	G	T	reviewed by expert panel	ClinGen:CA16041884
single nucleotide variant	NM_000152.5(GAA):c.573C>A (p.Tyr191Ter)	GAA	Pathogenic	17	78079574	78079574	C	A	reviewed by expert panel	ClinGen:CA16041885
single nucleotide variant	NM_000152.5(GAA):c.875A>G (p.Tyr292Cys)	GAA	Pathogenic/Likely pathogenic	17	78081615	78081615	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041886
single nucleotide variant	NM_000152.5(GAA):c.1076-22T>G	GAA	Pathogenic/Likely pathogenic	17	78082266	78082266	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA8815157
single nucleotide variant	NM_000152.5(GAA):c.1076-2A>G	GAA	Pathogenic/Likely pathogenic	17	78082286	78082286	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041887
Deletion	NM_000152.5(GAA):c.1099del (p.Trp367fs)	GAA	Likely pathogenic	17	78082311	78082311	CT	C	reviewed by expert panel	ClinGen:CA16041888
single nucleotide variant	NM_000152.5(GAA):c.1115A>T (p.His372Leu)	GAA	Pathogenic/Likely pathogenic	17	78082327	78082327	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041889
Deletion	NM_000152.5(GAA):c.1143del (p.Ala382fs)	GAA	Pathogenic	17	78082354	78082354	AC	A	reviewed by expert panel	ClinGen:CA8815181