| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Retinitis pigmentosa (RDH5) | Retinitis Pigmentosa | Autosomal Recessive | 12q13.2 | Substitution | RDH5 | c.602C>T | p.Ser201Phe | Missense | Sultan et al., 2018/2018 |
