| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Oculocutaneous Albinism (MC1R) | Reddish blonde Hair and Light brownish Iris | Autosomal Recessive | 16q24.3 | Substitution | MC1R | 917G>A | Arg306His | Missense | 0/Saleha et al., 2013 |
