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
Duplication	NM_000152.5(GAA):c.2161dup (p.Glu721fs)	GAA	Likely pathogenic	17	78087132	78087133	C	CG	reviewed by expert panel	-
single nucleotide variant	NM_000152.5(GAA):c.2314T>C (p.Trp772Arg)	GAA	Likely pathogenic	17	78090891	78090891	T	C	reviewed by expert panel	-
Duplication	NM_000152.5(GAA):c.2367dup (p.Pro790fs)	GAA	Likely pathogenic	17	78091433	78091434	C	CA	reviewed by expert panel	-
Deletion	NM_000152.5(GAA):c.2853del (p.Trp951fs)	GAA	Likely pathogenic	17	78093123	78093123	TG	T	criteria provided, single submitter	-
single nucleotide variant	NM_000152.5(GAA):c.4G>T (p.Gly2Ter)	GAA	Likely pathogenic	17	78078389	78078389	G	T	reviewed by expert panel	-
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.2662G>T (p.Glu888Ter)	GAA	Pathogenic	17	78092467	78092467	G	T	reviewed by expert panel	-
single nucleotide variant	NM_000152.5(GAA):c.797C>T (p.Pro266Leu)	GAA	Likely pathogenic	17	78081460	78081460	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000152.5(GAA):c.1802C>A (p.Ser601Ter)	GAA	Pathogenic	17	78086424	78086424	C	A	reviewed by expert panel	-
single nucleotide variant	NM_000152.5(GAA):c.1134C>G (p.Tyr378Ter)	GAA	Pathogenic	17	78082346	78082346	C	G	reviewed by expert panel	-