| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (nonsense) | Hypomyelinating leukodystrophy 11 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Combined oxidative phosphorylation defect type 8 | |
| | | Single nucleotide variant (missense variant) | Combined oxidative phosphorylation defect type 8 | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Combined oxidative phosphorylation defect type 8 +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Combined oxidative phosphorylation defect type 8 | |
Click to view in NCBI Gene