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.1692del (p.Leu565fs)	GAA	Likely pathogenic	17	78085835	78085835	GT	G	reviewed by expert panel	ClinGen:CA658798979
Deletion	NC_000017.11:g.(?_80104542)_(80105914_?)del	GAA	Pathogenic	17	78078341	78079713	na	na	criteria provided, single submitter	-
Deletion	NC_000017.11:g.(?_80107537)_(80113386_?)del	GAA	Likely pathogenic	17	78081336	78087185	na	na	criteria provided, single submitter	-
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.1438-2A>G	GAA	Pathogenic	17	78084524	78084524	A	G	reviewed by expert panel	ClinGen:CA401366755
Deletion	NM_000152.5(GAA):c.342del (p.Lys114fs)	GAA	Likely pathogenic	17	78078727	78078727	AG	A	reviewed by expert panel	ClinGen:CA658798976
single nucleotide variant	NM_000152.5(GAA):c.241C>T (p.Gln81Ter)	GAA	Pathogenic	17	78078626	78078626	C	T	reviewed by expert panel	-
Duplication	NM_000152.5(GAA):c.448dup (p.Ala150fs)	GAA	Likely pathogenic	17	78078831	78078832	C	CG	reviewed by expert panel	-
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	-
Insertion	NM_000152.5(GAA):c.766_767insC (p.Tyr256fs)	GAA	Likely pathogenic	17	78081429	78081430	T	TC	reviewed by expert panel	-