| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (splice donor variant) | Combined oxidative phosphorylation deficiency 56 +5 more | |
| | | Single nucleotide variant (missense variant +2 more) | Combined oxidative phosphorylation deficiency 56 +5 more | |
Click to view in NCBI Gene