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.2237G>A (p.Trp746Ter)	GAA	Pathogenic	17	78090814	78090814	G	A	reviewed by expert panel	ClinGen:CA8815664
single nucleotide variant	NM_000152.5(GAA):c.1912G>T (p.Gly638Trp)	GAA	Pathogenic/Likely pathogenic	17	78086698	78086698	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA8815545,UniProtKB:P10253#VAR_046476
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
single nucleotide variant	NM_000152.5(GAA):c.853C>T (p.Pro285Ser)	GAA	Likely pathogenic	17	78081516	78081516	C	T	reviewed by expert panel	ClinGen:CA10603793,UniProtKB:P10253#VAR_068582
single nucleotide variant	NM_000152.5(GAA):c.546G>C (p.Thr182=)	GAA	Pathogenic/Likely pathogenic	17	78078931	78078931	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10603795
Deletion	NM_000152.5(GAA):c.934del (p.Leu312fs)	GAA	Pathogenic	17	78081673	78081673	TC	T	reviewed by expert panel	ClinGen:CA10604123
Duplication	NM_000152.5(GAA):c.258dup (p.Asn87fs)	GAA	Pathogenic	17	78078636	78078637	T	TC	reviewed by expert panel	ClinGen:CA8814826
single nucleotide variant	NM_000152.5(GAA):c.1124G>T (p.Arg375Leu)	GAA	Likely pathogenic	17	78082336	78082336	G	T	reviewed by expert panel	UniProtKB:P10253#VAR_046469,ClinGen:CA8815178
single nucleotide variant	NM_000152.5(GAA):c.841C>T (p.Arg281Trp)	GAA	Likely pathogenic	17	78081504	78081504	C	T	reviewed by expert panel	ClinGen:CA8815025
single nucleotide variant	NM_000152.5(GAA):c.1064T>C (p.Leu355Pro)	GAA	Pathogenic	17	78082197	78082197	T	C	reviewed by expert panel	ClinGen:CA8815136,UniProtKB:P10253#VAR_018086