| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Retinitis Pigmentosa 14 | Retinitis Pigmentosa | Autosomal Recessive | 6p21.31 | Substitution | TULP1 | c.238 C > T | p.Gln80Ter | Missense | Marwan et al., 2023/2023 |
