糖原病II型 (ポンペ病)

小児・神経疾患

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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.1438-1G>T	GAA	Pathogenic/Likely pathogenic	17	78084525	78084525	G	T	criteria provided, multiple submitters, no conflicts	-
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.1905C>A (p.Asn635Lys)	GAA	Pathogenic/Likely pathogenic	17	78086691	78086691	C	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000152.5(GAA):c.2228A>G (p.Gln743Arg)	GAA	Pathogenic/Likely pathogenic	17	78090805	78090805	A	G	criteria provided, multiple submitters, no conflicts	ClinVar:561160
single nucleotide variant	NM_000152.5(GAA):c.1099T>C (p.Trp367Arg)	GAA	Pathogenic/Likely pathogenic	17	78082311	78082311	T	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000152.5(GAA):c.1551+1G>C	GAA	Pathogenic/Likely pathogenic	17	78084640	78084640	G	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000152.5(GAA):c.1432G>A (p.Gly478Arg)	GAA	Pathogenic/Likely pathogenic	17	78083849	78083849	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000152.5(GAA):c.1165del (p.Glu389fs)	GAA	Pathogenic/Likely pathogenic	17	78082376	78082376	TG	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000152.5(GAA):c.1933G>T (p.Asp645Tyr)	GAA	Pathogenic/Likely pathogenic	17	78086719	78086719	G	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000152.5(GAA):c.1551+1G>T	GAA	Pathogenic/Likely pathogenic	17	78084640	78084640	G	T	criteria provided, multiple submitters, no conflicts	-