| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Severe Combined Immunodeficiency (SCID/RAG1) | Combined cellular and humoral immune defects with granulomas | Autosomal Recessive | 11p12 | Substitution | RAG1 | p.Arg410Gln | Missense | Fayyaz et al., 2024/2024 | |
| Severe Combined Immunodeficiency (SCID/RAG1) | Combined cellular and humoral immune defects with granulomas | Autosomal Recessive | 11p12 | Substitution | RAG1 | p.Arg737His | Missense | Fayyaz et al., 2024/2024 | |
| Severe Combined Immunodeficiency (SCID/RAG1) | Combined cellular and humoral immune defects with granulomas | Autosomal Recessive | 11p12 | RAG1 | p.Trp959* | Nonsense | Fayyaz et al., 2024/2024 |
