| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Duplication (inframe_insertion) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Leigh syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Mitochondrial disease +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | not provided +4 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 4K +3 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 4K +3 more | |
| | | Deletion (frameshift variant) | Charcot-Marie-Tooth disease type 4K +3 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Leigh syndrome +4 more | |
| | | Indel (5 prime UTR variant +1 more) | SURF1-related disorder +4 more | |
| | | Single nucleotide variant (splice donor variant) | Leigh syndrome +3 more | |
| | | Deletion (5 prime UTR variant +2 more) | Charcot-Marie-Tooth disease type 4K +3 more | |
Click to view in NCBI Gene