| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Severe Combined Immunodeficiency (SCID/DCLRE1C) | Severe combined immunodeficiency | Autosomal Recessive | 10p13 | DCLRE1C | p.Arg191* | Nonsense | Fayyaz et al., 2024/2024 |
