| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 | |
| | | Single nucleotide variant (missense variant) | Mitochondrial disease | |
| | | Single nucleotide variant (missense variant) | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Mitochondrial disease +8 more | GPathogenic/Likely pathogenic |
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