| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Pulmonary hypoplasia +4 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant) | Combined oxidative phosphorylation defect type 8 +2 more | |
Click to view in NCBI Gene