| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | ASL-related condition +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Argininosuccinate lyase deficiency | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene