| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Diverse Retinal Phenotypes (RPGRIP1) | Sensitivity to light, nystagmus, and gradual loss of eyesight leading to complete blindness around 20 | Autosomal Recessive | 14q11.2 | Frameshift | RPGRIP1 | c.2789dupT | Pro931Thrfs*3 | Premature Termination | Tareen et al.,/2025 |
