| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | LOC121815974, OAT (R250P +3 more) | Single nucleotide variant (missense variant) | Ornithine aminotransferase deficiency | |
| | LOC121815974, OAT (Y245C +3 more) | Single nucleotide variant (missense variant) | Ornithine aminotransferase deficiency | |
| | LOC121815974, OAT (P241L +3 more) | Single nucleotide variant (missense variant) | Ornithine aminotransferase deficiency +1 more | GPathogenic/Likely pathogenic |
| | LOC121815974, OAT (A226V +3 more) | Single nucleotide variant (missense variant) | Ornithine aminotransferase deficiency +1 more | |
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