| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense +3 more) | Mitochondrial complex III deficiency nuclear type 1 +5 more | |
| | | Single nucleotide variant (missense variant +1 more) | Pili torti-deafness syndrome +4 more | |
Click to view in NCBI Gene