| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (genic upstream transcript variant +1 more) | Glycogen storage disease due to muscle beta-enolase deficiency | |
| | | Indel (inframe_insertion) | not specified +1 more | |
| | | Single nucleotide variant (synonymous variant) | Glycogen storage disease due to muscle beta-enolase deficiency +1 more | |
| | | Single nucleotide variant (synonymous variant) | Glycogen storage disease due to muscle beta-enolase deficiency +2 more | |
| | | Single nucleotide variant (missense variant) | Glycogen storage disease due to muscle beta-enolase deficiency +1 more | |
Click to view in NCBI Gene