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.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.2456G>A (p.Arg819Gln)	GAA	Likely pathogenic	17	78091523	78091523	G	A	criteria provided, single submitter	ClinGen:CA8815747
single nucleotide variant	NM_000152.5(GAA):c.2740C>T (p.Gln914Ter)	GAA	Likely pathogenic	17	78092545	78092545	C	T	reviewed by expert panel	ClinGen:CA401327117
single nucleotide variant	NM_000152.5(GAA):c.2188G>T (p.Glu730Ter)	GAA	Pathogenic	17	78087164	78087164	G	T	reviewed by expert panel	ClinGen:CA401370663
single nucleotide variant	NM_000152.5(GAA):c.1735G>A (p.Glu579Lys)	GAA	Pathogenic	17	78085880	78085880	G	A	reviewed by expert panel	ClinGen:CA294895841
single nucleotide variant	NM_000152.5(GAA):c.858+2T>A	GAA	Likely pathogenic	17	78081523	78081523	T	A	criteria provided, single submitter	ClinGen:CA401363732
Deletion	NM_000152.5(GAA):c.1130del (p.Gly377fs)	GAA	Likely pathogenic	17	78082339	78082339	TG	T	reviewed by expert panel	ClinGen:CA8815179
single nucleotide variant	NM_000152.5(GAA):c.1129G>C (p.Gly377Arg)	GAA	Pathogenic/Likely pathogenic	17	78082341	78082341	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA8815180
Deletion	NM_000152.5(GAA):c.1153del (p.Arg385fs)	GAA	Pathogenic	17	78082363	78082363	AC	A	reviewed by expert panel	ClinGen:CA658798978
single nucleotide variant	NM_000152.5(GAA):c.1802C>G (p.Ser601Trp)	GAA	Likely pathogenic	17	78086424	78086424	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA294896338