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.2242G>T (p.Glu748Ter)	GAA	Pathogenic	17	78090819	78090819	G	T	reviewed by expert panel	ClinGen:CA16041903
single nucleotide variant	NM_000152.5(GAA):c.2238G>A (p.Trp746Ter)	GAA	Pathogenic	17	78090815	78090815	G	A	reviewed by expert panel	ClinGen:CA8815666
single nucleotide variant	NM_000152.5(GAA):c.2238G>C (p.Trp746Cys)	GAA	Pathogenic	17	78090815	78090815	G	C	reviewed by expert panel	ClinGen:CA8815665,UniProtKB:P10253#VAR_004311
Duplication	NM_000152.5(GAA):c.2242dup (p.Glu748fs)	GAA	Pathogenic	17	78090813	78090814	T	TG	reviewed by expert panel	ClinGen:CA8815662
Deletion	NM_000152.5(GAA):c.2242del (p.Glu748fs)	GAA	Likely pathogenic	17	78090814	78090814	TG	T	reviewed by expert panel	ClinGen:CA16041904
single nucleotide variant	NM_000152.5(GAA):c.2237G>A (p.Trp746Ter)	GAA	Pathogenic	17	78090814	78090814	G	A	reviewed by expert panel	ClinGen:CA8815664
single nucleotide variant	NM_000152.5(GAA):c.2237G>C (p.Trp746Ser)	GAA	Pathogenic/Likely pathogenic	17	78090814	78090814	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA198797,UniProtKB:P10253#VAR_068632,ClinVar:561160
single nucleotide variant	NM_000152.5(GAA):c.2228A>G (p.Gln743Arg)	GAA	Pathogenic/Likely pathogenic	17	78090805	78090805	A	G	criteria provided, multiple submitters, no conflicts	ClinVar:561160
single nucleotide variant	NM_000152.5(GAA):c.2227C>T (p.Gln743Ter)	GAA	Pathogenic/Likely pathogenic	17	78090804	78090804	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041902
single nucleotide variant	NM_000152.5(GAA):c.2214G>A (p.Trp738Ter)	GAA	Pathogenic	17	78090791	78090791	G	A	reviewed by expert panel	ClinGen:CA16041901