| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +2 more) | Arginase deficiency | GPathogenic/Likely pathogenic |
| | ARG1, MED23 (G106E +1 more) | Single nucleotide variant (missense variant +2 more) | Arginase deficiency | |
| | ARG1, MED23 (T135I +1 more) | Single nucleotide variant (missense variant +2 more) | Arginase deficiency +1 more | GConflicting classifications of pathogenicity |
| | ARG1, MED23 (L216fs +2 more) | Deletion (frameshift variant +2 more) | Arginase deficiency | |
| | ARG1, MED23 (R308Q +2 more) | Single nucleotide variant (missense variant +2 more) | Arginase deficiency | |
Click to view in NCBI Gene