| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Oculocutaneous Albinism (OCA3, TYRP1) | White Skin, Golden Hair, Brown Iris | Autosomal Recessive | 9p23 | Deletion | TYRP1 | 647_668del | Glu216-GlyfsX42 | Frameshift and protein truncation | 0/Kausar et al., 2013 |
