| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (5 prime UTR variant +3 more) | Mitochondrial complex 1 deficiency, nuclear type 17 | |
| | | Single nucleotide variant (nonsense +2 more) | Leigh syndrome +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Mitochondrial complex 1 deficiency, nuclear type 17 | |
Click to view in NCBI Gene