Related gene-specific medical variations for Gene (Select 2027) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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
Select item 1281278	NC_000017.11:g.4949010G>A	ENO3, LOC130060055 +1 more	Single nucleotide variant	not provided	GBenign
Select item 1200806	NC_000017.11:g.4949328G>T	ENO3, LOC130060056 +1 more	Single nucleotide variant (genic upstream transcript variant)	not provided	GLikely benign

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