| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Ornithine aminotransferase deficiency +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice donor variant) | Retinal dystrophy +1 more | |
| | | Single nucleotide variant (nonsense) | Ornithine aminotransferase deficiency +2 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene