| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Cone–rod dystrophy | Cone-rod dystrophy 6 | 17p13.1 | Duplication | GUCY2D | c.2965dup | p.(Val989GlyfsTer83) | Frameshift | Zafar et al., 2025/2025 |
