C0017922[trait identifier] AND "Victorian Clinical Genetics Services, - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1027598	NM_000642.3(AGL):c.1020del (p.Glu340fs)	AGL (E324fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 526601	NM_000642.3(AGL):c.2681+4dup	AGL	Duplication (intron variant)	Glycogen storage disease type III	GUncertain significance
Select item 661058	NM_000642.3(AGL):c.3179C>G (p.Ser1060Ter)	AGL (S1060* +6 more)	Single nucleotide variant (nonsense)	Glycogen storage disease type III	GPathogenic

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