"Ege University Pediatric Genetics, Ege University"[submitter] AND "AG - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 635289	NM_000642.3(AGL):c.847-3C>A	AGL	Single nucleotide variant (intron variant)	Glycogen storage disease IIIa	GUncertain significance
Select item 635292	NM_000642.3(AGL):c.1083-2A>G	AGL	Single nucleotide variant (splice acceptor variant +1 more)	Glycogen storage disease IIIa	GPathogenic
Select item 635318	NM_000642.3(AGL):c.2113A>G (p.Ile705Val)	AGL (I705V +4 more)	Single nucleotide variant (missense variant)	Glycogen storage disease IIIa	GUncertain significance
Select item 635290	NM_000642.3(AGL):c.2950-2A>G	AGL	Single nucleotide variant (splice acceptor variant)	Glycogen storage disease IIIa	GPathogenic
Select item 635319	NM_000642.3(AGL):c.3677T>C (p.Ile1226Thr)	AGL (I1226T +6 more)	Single nucleotide variant (missense variant)	Glycogen storage disease type III +1 more	GUncertain significance
Select item 635291	NM_000642.3(AGL):c.3837-1G>A	AGL	Single nucleotide variant (splice acceptor variant)	Glycogen storage disease IIIa	GPathogenic

ClinVar