| | | Single nucleotide variant (synonymous variant) | Autosomal recessive ataxia due to ubiquinone deficiency +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive ataxia due to ubiquinone deficiency +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice acceptor variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Autosomal recessive ataxia due to ubiquinone deficiency +1 more | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive ataxia due to ubiquinone deficiency +2 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (frameshift variant) | Autosomal recessive ataxia due to ubiquinone deficiency | |
| | | Single nucleotide variant (synonymous variant) | Coenzyme Q10 deficiency, Spinocerebellar Ataxia Type +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | See cases +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Autosomal recessive cerebellar ataxia +2 more | |
| | | Microsatellite (inframe_deletion) | Autosomal recessive ataxia due to ubiquinone deficiency +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Autosomal recessive ataxia due to ubiquinone deficiency +2 more | GConflicting classifications of pathogenicity |