| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Methemoglobinemia (CYB5R3) | Autosomal Recessive | 22q13.2 | Missense | CYB5R3 | c.670A>T | p.Ile224Phe | Amino Acid substitution | Ullah et al., 2023/2023 |
