| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Retinitis Pigmentosa-40 | Retinitis Pigmentosa | Autosomal Recessive | 4p16.3 | Substitution | PDE6B | c.938C>T | p.Thr313Ile | Missense | Aziz et al., 2023/2023 |
| Retinitis Pigmentosa-40 (PDE6B) | Retinitis pigmentosa-40 | Autosomal Recessive | 4p16.3 | Deletion | PDE6B | c.1921-20_1921-3del | Ullah et al., 2023/2023 |
