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.1501_1515del (p.Asp501_Glu505del)	GAA	Likely pathogenic	17	78084586	78084600	GGAGGACATGGTGGCT	G	criteria provided, single submitter	ClinGen:CA16620647
single nucleotide variant	NM_000152.5(GAA):c.1552-3C>G	GAA	Likely pathogenic	17	78084737	78084737	C	G	reviewed by expert panel	ClinGen:CA8815383
Deletion	NM_000152.5(GAA):c.2061del (p.Phe687fs)	GAA	Likely pathogenic	17	78087037	78087037	TC	T	reviewed by expert panel	ClinGen:CA16620648
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
single nucleotide variant	NM_000152.5(GAA):c.118C>T (p.Arg40Ter)	GAA	Pathogenic	17	78078503	78078503	C	T	reviewed by expert panel	ClinGen:CA8814791
single nucleotide variant	NM_000152.5(GAA):c.2105G>A (p.Arg702His)	GAA	Pathogenic/Likely pathogenic	17	78087081	78087081	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA8815610
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
single nucleotide variant	NM_000152.5(GAA):c.727G>A (p.Asp243Asn)	GAA	Likely pathogenic	17	78081390	78081390	G	A	criteria provided, single submitter	ClinGen:CA401363168
single nucleotide variant	NM_000152.5(GAA):c.1564C>A (p.Pro522Thr)	GAA	Pathogenic/Likely pathogenic	17	78084752	78084752	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA401367208
Deletion	NC_000017.11:g.(?_80118193)_(80118357_?)del	GAA	Pathogenic	17	78091992	78092156	na	na	criteria provided, single submitter	-