Links from MedGen
Items: 3
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Microsatellite (frameshift variant) | Combined oxidative phosphorylation defect type 30 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Combined oxidative phosphorylation defect type 30 +1 more | |
| | | Single nucleotide variant (missense variant) | See cases | |
Click to view in NCBI Gene