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.1437+1G>A	GAA	Pathogenic/Likely pathogenic	17	78083855	78083855	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000152.5(GAA):c.692+2T>C	GAA	Pathogenic/Likely pathogenic	17	78079695	78079695	T	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000152.5(GAA):c.692+5G>T	GAA	Pathogenic/Likely pathogenic	17	78079698	78079698	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA8814966
single nucleotide variant	NM_000152.5(GAA):c.1129G>C (p.Gly377Arg)	GAA	Pathogenic/Likely pathogenic	17	78082341	78082341	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA8815180
single nucleotide variant	NM_000152.5(GAA):c.1564C>A (p.Pro522Thr)	GAA	Pathogenic/Likely pathogenic	17	78084752	78084752	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA401367208
single nucleotide variant	NM_000152.5(GAA):c.2105G>A (p.Arg702His)	GAA	Pathogenic/Likely pathogenic	17	78087081	78087081	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA8815610
single nucleotide variant	NM_000152.5(GAA):c.2227C>T (p.Gln743Ter)	GAA	Pathogenic/Likely pathogenic	17	78090804	78090804	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041902
single nucleotide variant	NM_000152.5(GAA):c.2213G>A (p.Trp738Ter)	GAA	Pathogenic/Likely pathogenic	17	78090790	78090790	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041900
single nucleotide variant	NM_000152.5(GAA):c.2040+1G>T	GAA	Pathogenic/Likely pathogenic	17	78086827	78086827	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041898
single nucleotide variant	NM_000152.5(GAA):c.1856G>A (p.Ser619Asn)	GAA	Pathogenic/Likely pathogenic	17	78086478	78086478	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA8815500