| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Hermansky-Pudlak Syndrome (HPS9) | oculocutaneous albinism, platelet dysfunction | Autosomal Recessive | 15q21.1 | Nonsense | HPS9 | 232C>T | Gln78* | Premature Termination | Cullinane et al., 2011/2011 |
