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