Links from MedGen
Items: 5
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (intron variant) | Combined oxidative phosphorylation deficiency 34 +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | Combined oxidative phosphorylation deficiency 34 | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Combined oxidative phosphorylation deficiency 34 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |
Click to view in NCBI Gene