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.2242del (p.Glu748fs)	GAA	Likely pathogenic	17	78090814	78090814	TG	T	reviewed by expert panel	ClinGen:CA16041904
Duplication	NM_000152.5(GAA):c.2242dup (p.Glu748fs)	GAA	Pathogenic	17	78090813	78090814	T	TG	reviewed by expert panel	ClinGen:CA8815662
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.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.2704C>T (p.Gln902Ter)	GAA	Likely pathogenic	17	78092509	78092509	C	T	reviewed by expert panel	ClinGen:CA16041908
single nucleotide variant	NM_000152.5(GAA):c.1961C>A (p.Ser654Ter)	GAA	Likely pathogenic	17	78086747	78086747	C	A	reviewed by expert panel	ClinGen:CA16043014
single nucleotide variant	NM_000152.5(GAA):c.1478C>T (p.Pro493Leu)	GAA	Likely pathogenic	17	78084566	78084566	C	T	reviewed by expert panel	ClinGen:CA16608675
single nucleotide variant	NM_000152.5(GAA):c.1082C>T (p.Pro361Leu)	GAA	Pathogenic	17	78082294	78082294	C	T	reviewed by expert panel	ClinGen:CA8815163
single nucleotide variant	NM_000152.5(GAA):c.1062C>A (p.Tyr354Ter)	GAA	Pathogenic	17	78082195	78082195	C	A	reviewed by expert panel	ClinGen:CA16620645
single nucleotide variant	NM_000152.5(GAA):c.1075G>T (p.Gly359Ter)	GAA	Pathogenic	17	78082208	78082208	G	T	reviewed by expert panel	ClinGen:CA16620646