糖原病II型 (ポンペ病)

小児・神経疾患

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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.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.1832G>A (p.Gly611Asp)	GAA	Likely pathogenic	17	78086454	78086454	G	A	reviewed by expert panel	ClinGen:CA16041897
single nucleotide variant	NM_000152.5(GAA):c.2015G>A (p.Arg672Gln)	GAA	Likely pathogenic	17	78086801	78086801	G	A	reviewed by expert panel	ClinGen:CA8815566
Deletion	NM_000152.5(GAA):c.2242del (p.Glu748fs)	GAA	Likely pathogenic	17	78090814	78090814	TG	T	reviewed by expert panel	ClinGen:CA16041904
single nucleotide variant	NM_000152.5(GAA):c.2704C>T (p.Gln902Ter)	GAA	Likely pathogenic	17	78092509	78092509	C	T	reviewed by expert panel	ClinGen:CA16041908
single nucleotide variant	NM_000152.5(GAA):c.1961C>A (p.Ser654Ter)	GAA	Likely pathogenic	17	78086747	78086747	C	A	reviewed by expert panel	ClinGen:CA16043014
single nucleotide variant	NM_000152.5(GAA):c.1478C>T (p.Pro493Leu)	GAA	Likely pathogenic	17	78084566	78084566	C	T	reviewed by expert panel	ClinGen:CA16608675
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