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.2014C>T (p.Arg672Trp)	GAA	Pathogenic	17	78086800	78086800	C	T	reviewed by expert panel	ClinGen:CA273939,UniProtKB:P10253#VAR_004308
single nucleotide variant	NM_000152.5(GAA):c.2104C>T (p.Arg702Cys)	GAA	Pathogenic/Likely pathogenic	17	78087080	78087080	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA274304,UniProtKB:P10253#VAR_046479
Deletion	NM_000152.5(GAA):c.2140del (p.His714fs)	GAA	Pathogenic	17	78087115	78087115	TC	T	reviewed by expert panel	ClinGen:CA274107
single nucleotide variant	NM_000152.5(GAA):c.2608C>T (p.Arg870Ter)	GAA	Pathogenic	17	78092118	78092118	C	T	reviewed by expert panel	ClinGen:CA274250
single nucleotide variant	NM_000152.5(GAA):c.2646+2T>A	GAA	Likely pathogenic	17	78092158	78092158	T	A	reviewed by expert panel	ClinGen:CA274134
single nucleotide variant	NM_000152.5(GAA):c.1802C>T (p.Ser601Leu)	GAA	Pathogenic	17	78086424	78086424	C	T	reviewed by expert panel	ClinGen:CA274982,UniProtKB:P10253#VAR_068614
single nucleotide variant	NM_000152.5(GAA):c.1194+3G>C	GAA	Likely pathogenic	17	78082409	78082409	G	C	reviewed by expert panel	ClinGen:CA247031
single nucleotide variant	NM_000152.5(GAA):c.854C>G (p.Pro285Arg)	GAA	Pathogenic	17	78081517	78081517	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA358045,UniProtKB:P10253#VAR_018080
single nucleotide variant	NM_000152.5(GAA):c.2238G>C (p.Trp746Cys)	GAA	Pathogenic	17	78090815	78090815	G	C	reviewed by expert panel	ClinGen:CA8815665,UniProtKB:P10253#VAR_004311
single nucleotide variant	NM_000152.5(GAA):c.1655T>C (p.Leu552Pro)	GAA	Pathogenic	17	78085800	78085800	T	C	reviewed by expert panel	ClinGen:CA8815429,UniProtKB:P10253#VAR_018092