| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Ornithine aminotransferase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Ornithine aminotransferase deficiency | |
| | | Single nucleotide variant (nonsense) | Ornithine aminotransferase deficiency | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Ornithine aminotransferase deficiency | GPathogenic/Likely pathogenic |
| | OAT, LOC121815974 (Q233R +3 more) | Single nucleotide variant (missense variant) | Ornithine aminotransferase deficiency | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Ornithine aminotransferase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Ornithine aminotransferase deficiency | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +2 more) | Ornithine aminotransferase deficiency | |
| | | Single nucleotide variant (missense variant +2 more) | Ornithine aminotransferase deficiency +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant +1 more) | Ornithine aminotransferase deficiency | |
| | | Duplication (frameshift variant +1 more) | Ornithine aminotransferase deficiency | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene