| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Congenital stationary night blindness (SAG ) | Congenital stationary night blindness | Autosomal Recessive | 2q37.1 | Substitution | SAG | c.874C>T | p.Arg292Ter | Missense | Baig et al., 2022/2022 |
