| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | See cases +1 more | GConflicting classifications of pathogenicity |
| | | Insertion (frameshift variant) | See cases | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive ataxia due to ubiquinone deficiency +3 more | GConflicting classifications of pathogenicity |
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