| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Mitochondrial DNA depletion syndrome 4b +11 more | |
| | | Single nucleotide variant (missense variant) | Progressive sclerosing poliodystrophy +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +15 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene