| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +2 more) | Mitochondrial disease +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | See cases | |
| | | Single nucleotide variant (intron variant +2 more) | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 | |
| | | Single nucleotide variant (missense variant +2 more) | Infantile onset spinocerebellar ataxia +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | Autosomal recessive cerebellar ataxia +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +3 more) | Infantile onset spinocerebellar ataxia | |
| | | Single nucleotide variant (missense variant +1 more) | Infantile onset spinocerebellar ataxia | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene