| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Congenital hyperammonemia, type I | |
| | | Single nucleotide variant (nonsense +1 more) | Pulmonary hypertension, neonatal, susceptibility to +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | CPS1-related condition +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | CPS1-related condition +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Congenital hyperammonemia, type I | |
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