| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | ARG1, MED23 (G99R +1 more) | Single nucleotide variant (missense variant +2 more) | not provided +1 more | GPathogenic/Likely pathogenic |
| | ARG1, MED23 (Q143R +1 more) | Single nucleotide variant (missense variant +2 more) | Arginase deficiency | GConflicting classifications of pathogenicity |
| | ARG1, MED23 (D183del +1 more) | Deletion (inframe_deletion +2 more) | Arginase deficiency | |
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