| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome +2 more | |
Click to view in NCBI Gene