| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Congenital hyperammonemia, type I | |
| | | Deletion (frameshift variant +1 more) | Pulmonary hypertension, neonatal, susceptibility to +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Pulmonary hypertension, neonatal, susceptibility to +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Congenital hyperammonemia, type I | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene