| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice donor variant) | Citrullinemia +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Citrullinemia +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Citrullinemia +3 more | GPathogenic/Likely pathogenic |
| | | Copy number gain | Seizure +2 more | |
Click to view in NCBI Gene