| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Congenital stationary night blindness (NYX) | Congenital stationary night blindness | X Linked | Xp11.4 | Delation | NYX | c.908del | p.Gly303ValfsTer45 | Frameshift | Baig et al., 2022/2022 |
