| | | Deletion | Autosomal recessive ataxia due to ubiquinone deficiency | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive ataxia due to ubiquinone deficiency | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive ataxia due to ubiquinone deficiency +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Autosomal recessive ataxia due to ubiquinone deficiency | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive ataxia due to ubiquinone deficiency +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | not specified +4 more | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | |
| | | Duplication (splice acceptor variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (splice donor variant) | Autosomal recessive ataxia due to ubiquinone deficiency | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive ataxia due to ubiquinone deficiency | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (inframe_deletion) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant) | Autosomal recessive ataxia due to ubiquinone deficiency | |
| | | Duplication (frameshift variant) | ADCK3-Related Disorders +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Autosomal recessive ataxia due to ubiquinone deficiency | |