Links from MedGen
Items: 4
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Mitochondrial complex 5 (ATP synthase) deficiency nuclear type 5 | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Mitochondrial complex 5 (ATP synthase) deficiency nuclear type 5 +1 more | |
| | | Single nucleotide variant (missense variant) | Decreased activity of mitochondrial ATP synthase complex +1 more | |
Click to view in NCBI Gene