| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Inherited retinal dystrophy (EYS)/Retinitis pigmentosa 25 | Retinitis pigmentosa | Autosomal Recessive | 6q12 | Delation Insertion | EYS | c.5571_5576delinsCTAGAT | p.Leu1858* | Nonsense | Tehreem et al., 2022/2022 |
