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
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.1857C>G (p.Ser619Arg)	GAA	Pathogenic	17	78086479	78086479	C	G	reviewed by expert panel	-
single nucleotide variant	NM_000152.5(GAA):c.1796C>A (p.Ser599Tyr)	GAA	Likely pathogenic	17	78086418	78086418	C	A	reviewed by expert panel	-
single nucleotide variant	NM_000152.5(GAA):c.1669A>T (p.Ile557Phe)	GAA	Likely pathogenic	17	78085814	78085814	A	T	reviewed by expert panel	-
single nucleotide variant	NM_000152.5(GAA):c.1552-2A>G	GAA	Likely pathogenic	17	78084738	78084738	A	G	criteria provided, single submitter	-
single nucleotide variant	NM_000152.5(GAA):c.1551+1G>C	GAA	Pathogenic/Likely pathogenic	17	78084640	78084640	G	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000152.5(GAA):c.1432G>A (p.Gly478Arg)	GAA	Pathogenic/Likely pathogenic	17	78083849	78083849	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000152.5(GAA):c.1165del (p.Glu389fs)	GAA	Pathogenic/Likely pathogenic	17	78082376	78082376	TG	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000152.5(GAA):c.953T>A (p.Met318Lys)	GAA	Likely pathogenic	17	78081693	78081693	T	A	reviewed by expert panel	-
Deletion	NM_000152.5(GAA):c.376del (p.Trp126fs)	GAA	Likely pathogenic	17	78078761	78078761	CT	C	reviewed by expert panel	-