| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis +14 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Progressive sclerosing poliodystrophy +12 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +9 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | POLG-Related Spectrum Disorders +15 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Mitochondrial DNA depletion syndrome 1 +1 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene