| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +2 more) | Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 +4 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 +3 more | |
Click to view in NCBI Gene