| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Oculocutaneous Albinism (OCA3, TYRP1) | Pale Skin and Hair Colour | Autosomal Recessive | 9p23 | Substitution | TYRP1 | 1117C>T | R373X | Nonsense | 0/Forshew et al., 2005 |
