| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Hermansky-Pudlak Syndrome (HPS6) | oculocutaneous albinism, platelet dysfunction | Autosomal Recessive | 10q24.32 | Missense | HPS6 | 823C>T | Pro275Ser | Amino Acid Substitution | Yousaf et al., 2016/2016 |
