| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Retinitis Pigmentosa 4 (RHO) | loss of vision or visual sharpness | Autosomal Recessive | 3q22.1 | Missense | RHO | c.448G>A | Glu150Lys | Amino acid substitution | 2015/Saqib et al. 2015 |
