| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Retinis pigmentosa 43 (PDE6A) | loss of vision or visual sharpness | Autosomal Recessive | 5q32 | Nonsense | PDE6A | c.889C>T | Arg256* | PTC | 2006/Riazuddin et al. 2006 |
| Retinis pigmentosa 43 (PDE6A) | loss of vision or visual sharpness | Autosomal Recessive | 5q32 | Splice site | PDE6A | c.1408-2 A>G | p.? | Exon skipping | 2006/Riazuddin et al. 2006 |
| Retinis pigmentosa 43 (PDE6A) | loss of vision or visual sharpness | Autosomal Recessive | 5q32 | Insertion | PDE6A | c.2218-2219insT | Tyr700fs*714 | Frame shift & PTC | 2006/Riazuddin et al. 2006 |
| Retinitis pigmentosa 43 (PDE6A) | Retinitis pigmentosa | Autosomal Recessive | 5q32 | Substitution | PDE6A | c.304C>A | p.Arg102Ser | Missense | Tehreem et al., 2022/2022 |
