| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Hermansky-Pudlak Syndrome (HPS3) | oculocutaneous albinism, platelet dysfunction | Autosomal Recessive | 3q24 | Missense | HPS3 | 1509G>A | Met503IIe | Amino Acid Substitution | Yousaf et al., 2016/2016 |
| Hermansky-Pudlak Syndrome (HPS3) | Oculocutaneous albinism, platelet dysfunction | Autosomal Recessive | 3q24 | Substitution | HPS3 | c.2766T > G | p.Tyr922Ter | Missense | Zaman et al., 2023/2023 |
