| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Ornithine aminotransferase deficiency | |
| | | Duplication (intron variant) | Ornithine aminotransferase deficiency +1 more | |
| | | Deletion (frameshift variant +1 more) | Ornithine aminotransferase deficiency | |
Click to view in NCBI Gene