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.1551+1G>T	GAA	Pathogenic/Likely pathogenic	17	78084640	78084640	G	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000152.5(GAA):c.1933G>T (p.Asp645Tyr)	GAA	Pathogenic/Likely pathogenic	17	78086719	78086719	G	T	criteria provided, multiple submitters, no conflicts	-
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.1710C>G (p.Asn570Lys)	GAA	Likely pathogenic	17	78085855	78085855	C	G	reviewed by expert panel	-
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	-
Deletion	NM_000152.5(GAA):c.2647-1_2648del	GAA	Likely pathogenic	17	78092450	78092452	CAGA	C	criteria provided, single submitter	-
Deletion	NM_000152.5(GAA):c.2706del (p.Lys903fs)	GAA	Pathogenic	17	78092511	78092511	AG	A	reviewed by expert panel	-
single nucleotide variant	NM_000152.5(GAA):c.1941C>G (p.Cys647Trp)	GAA	Pathogenic	17	78086727	78086727	C	G	reviewed by expert panel	-
Deletion	NM_000152.5(GAA):c.2040+1del	GAA	Likely pathogenic	17	78086826	78086826	TG	T	criteria provided, single submitter	-
Duplication	NM_000152.5(GAA):c.2617dup (p.Tyr873fs)	GAA	Likely pathogenic	17	78092126	78092127	C	CT	reviewed by expert panel	-