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.671G>A (p.Arg224Gln)	GAA	Pathogenic/Likely pathogenic	17	78079672	78079672	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000152.5(GAA):c.1438-1G>T	GAA	Pathogenic/Likely pathogenic	17	78084525	78084525	G	T	criteria provided, multiple submitters, no conflicts	-