| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | X-linked severe combined immunodeficiency +2 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | X-linked severe combined immunodeficiency | |
| | IL2RG, LOC126863274 (L16P) | Single nucleotide variant (missense variant) | X-linked severe combined immunodeficiency | |
Click to view in NCBI Gene