| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Ornithine aminotransferase deficiency +1 more | |
| | | Single nucleotide variant (missense variant) | Ornithine aminotransferase deficiency | |
| | | Single nucleotide variant (splice acceptor variant) | Ornithine aminotransferase deficiency +1 more | GPathogenic/Likely pathogenic |
| | OAT, LOC121815974 (Q233R +3 more) | Single nucleotide variant (missense variant) | Ornithine aminotransferase deficiency | GConflicting classifications of pathogenicity |
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