| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Retinitis Pigmentosa 38 | Retinitis Pigmentosa | Autosomal Recessive | 2q13 | Substitution | MERTK | c.2194C > T | p.Arg732Ter | Missense | Marwan et al., 2023/2023 |
