| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Indel (non-coding transcript variant +1 more) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | |
| | | Deletion (frameshift variant) | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome +1 more | |
Click to view in NCBI Gene