| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | IL2RG, LOC126863274 (T29M) | Single nucleotide variant (missense variant) | X-linked severe combined immunodeficiency +1 more | GConflicting classifications of pathogenicity |
| | LOC126863274, IL2RG (F13L) | Single nucleotide variant (missense variant) | IL2RG-related disorder +2 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene