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
Duplication	NM_000152.5(GAA):c.1192dup (p.Leu398fs)	GAA	Pathogenic	17	78082399	78082400	T	TC	reviewed by expert panel	ClinGen:CA16041890
Deletion	NM_000152.5(GAA):c.1193del (p.Leu398fs)	GAA	Likely pathogenic	17	78082405	78082405	CT	C	reviewed by expert panel	ClinGen:CA16041891
single nucleotide variant	NM_000152.5(GAA):c.1194+2T>C	GAA	Likely pathogenic	17	78082408	78082408	T	C	criteria provided, single submitter	ClinGen:CA16041892
single nucleotide variant	NM_000152.5(GAA):c.1222A>G (p.Met408Val)	GAA	Likely pathogenic	17	78082523	78082523	A	G	reviewed by expert panel	ClinGen:CA8815236
single nucleotide variant	NM_000152.5(GAA):c.1316T>A (p.Met439Lys)	GAA	Pathogenic	17	78082617	78082617	T	A	reviewed by expert panel	ClinGen:CA8815258
single nucleotide variant	NM_000152.5(GAA):c.1564C>G (p.Pro522Ala)	GAA	Pathogenic/Likely pathogenic	17	78084752	78084752	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041893
Deletion	NM_000152.5(GAA):c.1567del (p.Ser523fs)	GAA	Likely pathogenic	17	78084754	78084754	CT	C	reviewed by expert panel	ClinGen:CA16041894
single nucleotide variant	NM_000152.5(GAA):c.1687C>T (p.Gln563Ter)	GAA	Pathogenic	17	78085832	78085832	C	T	reviewed by expert panel	ClinGen:CA16041895
single nucleotide variant	NM_000152.5(GAA):c.1799G>A (p.Arg600His)	GAA	Pathogenic	17	78086421	78086421	G	A	reviewed by expert panel	ClinGen:CA8815482
Duplication	NM_000152.5(GAA):c.1824_1828dup (p.Ala610fs)	GAA	Pathogenic	17	78086443	78086444	C	CCGATA	reviewed by expert panel	ClinGen:CA16041896