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.1564C>G (p.Pro522Ala)	GAA	Pathogenic/Likely pathogenic	17	78084752	78084752	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041893
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
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
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.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.-32-3C>A	GAA	Pathogenic/Likely pathogenic	17	78078351	78078351	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041878
single nucleotide variant	NM_000152.5(GAA):c.546G>C (p.Thr182=)	GAA	Pathogenic/Likely pathogenic	17	78078931	78078931	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10603795
single nucleotide variant	NM_000152.5(GAA):c.546G>A (p.Thr182=)	GAA	Pathogenic/Likely pathogenic	17	78078931	78078931	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA8814895
single nucleotide variant	NM_000152.5(GAA):c.1912G>T (p.Gly638Trp)	GAA	Pathogenic/Likely pathogenic	17	78086698	78086698	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA8815545,UniProtKB:P10253#VAR_046476
single nucleotide variant	NM_000152.5(GAA):c.2104C>T (p.Arg702Cys)	GAA	Pathogenic/Likely pathogenic	17	78087080	78087080	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA274304,UniProtKB:P10253#VAR_046479