| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +2 more) | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 | |
| | | Single nucleotide variant (missense variant +2 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | Autosomal recessive cerebellar ataxia +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +3 more) | Infantile onset spinocerebellar ataxia | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Perrault syndrome 5 +3 more | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Autosomal recessive cerebellar ataxia +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Infantile onset spinocerebellar ataxia +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Infantile onset spinocerebellar ataxia +7 more | GConflicting classifications of pathogenicity |
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