| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Duplication (5 prime UTR variant +1 more) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense +2 more) | Mitochondrial complex 4 deficiency, nuclear type 17 | |
Click to view in NCBI Gene