| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense +1 more) | not provided +2 more | |
| | ARG1, MED23 (D128G +1 more) | Single nucleotide variant (missense variant +2 more) | Arginase deficiency | GPathogenic/Likely pathogenic |
| | ARG1, MED23 (Y112H +2 more) | Single nucleotide variant (missense variant +2 more) | Arginase deficiency | |
| | ARG1, MED23 (V249A +2 more) | Single nucleotide variant (missense variant +2 more) | Arginase deficiency | |
| | ARG1, MED23 (A298P +2 more) | Single nucleotide variant (missense variant +2 more) | not provided +1 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene