| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) +2 more | |
| | | Single nucleotide variant (nonsense) | Charcot-Marie-Tooth disease, axonal, type 2EE +1 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene