| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | |
| | | Microsatellite (inframe_deletion) | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | |
| | | Single nucleotide variant (nonsense) | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene