| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Progressive sclerosing poliodystrophy | |
| | | Single nucleotide variant (nonsense) | Progressive sclerosing poliodystrophy | |
| | | Deletion (frameshift variant) | Progressive sclerosing poliodystrophy | |
| | | Single nucleotide variant (missense variant) | Mitochondrial DNA depletion syndrome 4b +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 | |
| | | Single nucleotide variant (missense variant) | not provided +8 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis +1 more | |
| | | Single nucleotide variant (missense variant) | Global developmental delay +14 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | POLG-related disorder +11 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Progressive sclerosing poliodystrophy +15 more | GConflicting classifications of pathogenicity |
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