| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Inherited retinal dystrophy (PAX6) | Retinitis Pigmentosa | Autosomal Recessive | 11p13 | Delation | PAX6 | c.109del | p.Ala37Profs*17 | Frameshift | Tehreem et al., 2022/2022 |
