| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (synonymous variant +2 more) | Myopathy, epilepsy, and progressive cerebral atrophy +3 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | Congenital myopathy +4 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene