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
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
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.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.1194+2T>C	GAA	Likely pathogenic	17	78082408	78082408	T	C	criteria provided, single submitter	ClinGen:CA16041892
Deletion	NM_000152.5(GAA):c.1193del (p.Leu398fs)	GAA	Likely pathogenic	17	78082405	78082405	CT	C	reviewed by expert panel	ClinGen:CA16041891
Deletion	NM_000152.5(GAA):c.1099del (p.Trp367fs)	GAA	Likely pathogenic	17	78082311	78082311	CT	C	reviewed by expert panel	ClinGen:CA16041888
Deletion	NM_000152.5(GAA):c.471del (p.Thr158fs)	GAA	Likely pathogenic	17	78078852	78078852	AC	A	reviewed by expert panel	ClinGen:CA16041883
Deletion	NM_000152.5(GAA):c.393del (p.Ser132fs)	GAA	Likely pathogenic	17	78078776	78078776	AC	A	reviewed by expert panel	ClinGen:CA16041882
Deletion	NM_000152.5(GAA):c.281_282del (p.Pro94fs)	GAA	Likely pathogenic	17	78078666	78078667	CCT	C	reviewed by expert panel	ClinGen:CA16041881
single nucleotide variant	NM_000152.5(GAA):c.1781G>C (p.Arg594Pro)	GAA	Likely pathogenic	17	78086403	78086403	G	C	reviewed by expert panel	ClinGen:CA8815476,UniProtKB:P10253#VAR_068613