| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Congenital stationary night blindness (RDH5) | Congenital stationary night blindness | Autosomal Recessive | 12q13.2 | Substitution | RDH5 | c.668A>C | p.Gln223Pro | Missense | Baig et al., 2022/2022 |
| Congenital stationary night blindness (RDH5) | Congenital stationary night blindness | Autosomal Recessive | 12q13.2 | Substitution | RDH5 | c.319G>C | p.Gly107Arg | Missense | Baig et al., 2022/2022 |
