| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Argininosuccinate lyase deficiency | |
| | | Single nucleotide variant (missense variant) | Argininosuccinate lyase deficiency | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Argininosuccinate lyase deficiency | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene