| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Microsatellite (frameshift variant) | Dysarthria +10 more | |
| | | Single nucleotide variant (intron variant) | Leigh syndrome +6 more | GConflicting classifications of pathogenicity |
| | | Copy number gain | Seizure +2 more | |
Click to view in NCBI Gene