| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +2 more) | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant +3 more) | Infantile onset spinocerebellar ataxia | |
| | | Single nucleotide variant (missense variant +1 more) | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Infantile onset spinocerebellar ataxia +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | GConflicting classifications of pathogenicity |
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