C2752027[trait identifier] AND "Center for Genomic Medicine, King Fais - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1285633	NM_053013.4(ENO3):c.559G>A (p.Glu187Lys)	ENO3 (E144K +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease due to muscle beta-enolase deficiency	GUncertain significance
Select item 3068091	NM_053013.4(ENO3):c.1176+2T>C	ENO3	Single nucleotide variant (splice donor variant)	Glycogen storage disease due to muscle beta-enolase deficiency	GLikely pathogenic