| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Mitochondrial complex III deficiency nuclear type 1 +5 more | |
| | | Single nucleotide variant (intron variant) | GRACILE syndrome +3 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Mitochondrial complex III deficiency nuclear type 1 +5 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Mitochondrial complex III deficiency nuclear type 1 +5 more | |
| | | Deletion (frameshift variant +1 more) | Mitochondrial complex III deficiency nuclear type 1 +2 more | |
Click to view in NCBI Gene