| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Recombinase activating gene 1 deficiency | |
| | | Single nucleotide variant (missense variant) | Combined immunodeficiency with skin granulomas | |
| | | Single nucleotide variant (missense variant) | Recombinase activating gene 1 deficiency | |
| | | Single nucleotide variant (missense variant) | Histiocytic medullary reticulosis +2 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene