| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Hermansky-Pudlak Syndrome (HPS4) | oculocutaneous albinism, platelet dysfunction | Autosomal Recessive | 22q12.1 | Splice site | HPS4 | 276+5G>A | Splicing error | Frame shift mutation | Yousaf et al., 2016/2016 |
| Hermansky-Pudlak Syndrome (HPS4) | Oculocutaneous albinism with bleeding abnormalities | Autosomal Recessive | 22q12.1 | Delation | HPS4 | c.1180_1184delGTTCC | p: Val394Pro395fsTer23 | Frameshift | Zaman et al., 2023/2023 |
