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.2407C>T (p.Gln803Ter)	GAA	Pathogenic	17	78091474	78091474	C	T	reviewed by expert panel	-
single nucleotide variant	NM_000152.5(GAA):c.2383G>T (p.Glu795Ter)	GAA	Pathogenic	17	78091450	78091450	G	T	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	-
single nucleotide variant	NM_000152.5(GAA):c.2332-1G>C	GAA	Likely pathogenic	17	78091398	78091398	G	C	criteria provided, single submitter	ClinGen:CA401324964
single nucleotide variant	NM_000152.5(GAA):c.2331+2T>A	GAA	Pathogenic	17	78090910	78090910	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041906
single nucleotide variant	NM_000152.5(GAA):c.2314T>C (p.Trp772Arg)	GAA	Likely pathogenic	17	78090891	78090891	T	C	reviewed by expert panel	-
Deletion	NM_000152.5(GAA):c.2300del (p.Phe767fs)	GAA	Pathogenic	17	78090876	78090876	CT	C	reviewed by expert panel	-
single nucleotide variant	NM_000152.5(GAA):c.2297A>C (p.Tyr766Ser)	GAA	Pathogenic	17	78090874	78090874	A	C	reviewed by expert panel	ClinGen:CA8815680
Indel	NM_000152.5(GAA):c.2281delinsAT (p.Ala761fs)	GAA	Pathogenic	17	78090858	78090858	G	AT	reviewed by expert panel	ClinGen:CA16041905
single nucleotide variant	NM_000152.5(GAA):c.2269C>T (p.Gln757Ter)	GAA	Pathogenic	17	78090846	78090846	C	T	reviewed by expert panel	ClinGen:CA294856548