| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Oculocutaneous Albinism (OCA5) | Golden Hair, White Skin and Foveal Hypoplasia | Autosomal Recessive | 4q24 | - | Not Reported | - | - | - | 0/Kausar et al., 2013 |
