| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Retinitis pigmentosa retinopathy (CHM) | Choroideremia | X Linked | Xq21.2 | Deletion | CHM | c.1584_1587del | p.(Val529HisfsTer7) | Frameshift and Premature Terminition | Zafar et al., 2025/2025 |
