| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Severe Combined Immunodeficiency (SCID/IL2RG) | Severe combined immunodeficiency, X-linked | X linked | Xq13.1 | IL2RG | p.Asp48Lfs*24 | Frameshift | Fayyaz et al., 2024/2024 | ||
| Severe Combined Immunodeficiency (SCID/IL2RG) | Severe combined immunodeficiency, X-linked | X linked | Xq13.1 | IL2RG | p.Gly271Glu | Missense | Fayyaz et al., 2024/2024 |
