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.376del (p.Trp126fs)	GAA	Likely pathogenic	17	78078761	78078761	CT	C	reviewed by expert panel	-
Deletion	NM_000152.5(GAA):c.379_380del (p.Cys127fs)	GAA	Pathogenic	17	78078763	78078764	GGT	G	reviewed by expert panel	-
Deletion	NM_000152.5(GAA):c.393del (p.Ser132fs)	GAA	Likely pathogenic	17	78078776	78078776	AC	A	reviewed by expert panel	ClinGen:CA16041882
Deletion	NM_000152.5(GAA):c.437del (p.Met146fs)	GAA	Pathogenic	17	78078822	78078822	AT	A	reviewed by expert panel	-
Duplication	NM_000152.5(GAA):c.448dup (p.Ala150fs)	GAA	Likely pathogenic	17	78078831	78078832	C	CG	reviewed by expert panel	-
Deletion	NM_000152.5(GAA):c.471del (p.Thr158fs)	GAA	Likely pathogenic	17	78078852	78078852	AC	A	reviewed by expert panel	ClinGen:CA16041883
Deletion	NM_000152.5(GAA):c.482_483del (p.Pro161fs)	GAA	Pathogenic	17	78078865	78078866	TCC	T	reviewed by expert panel	-
Deletion	NM_000152.5(GAA):c.525del (p.Glu176fs)	GAA	Pathogenic	17	78078910	78078910	CT	C	reviewed by expert panel	ClinGen:CA220406,OMIM:606800.0014
Deletion	NM_000152.5(GAA):c.525_526del (p.Asn177fs)	GAA	Pathogenic	17	78078910	78078911	CTG	C	reviewed by expert panel	ClinGen:CA274328
single nucleotide variant	NM_000152.5(GAA):c.546G>A (p.Thr182=)	GAA	Pathogenic/Likely pathogenic	17	78078931	78078931	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA8814895