| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Hermansky-Pudlak Syndrome (HPS1) | oculocutaneous albinism, platelet dysfunction | Autosomal Recessive | 10q24.2 | Missense | HPS1 | 1342T>C | Trp448Arg | Amino Acid Substitution | Yousaf et al., 2016/2016 |
| Hermansky-Pudlak Syndrome (HPS1) | oculocutaneous albinism, platelet dysfunction | Autosomal Recessive | 10q24.2 | Nonsense | HPS1 | 2056C>T | Gln686* | Premature Termination | Yousaf et al., 2016/2016 |
| Hermansky-Pudlak Syndrome (HPS1) | oculocutaneous albinism, platelet dysfunction | Autosomal Recessive | 10q24.2 | Gross Deletion | HPS1 | g.10:98435762-98435882 | Pro41Aspfs*12 | Frame shift mutation & PTC | Yousaf et al., 2016/2016 |
| Hermansky-Pudlak Syndrome (HPS1) | Hermansky-Pudlak syndrome 1 | Autosomal Recessive | 10q24.2 | Substitution | HPS1 | c.2009 T > C | p.(Leu670Pro) | Missense | Khan et al., 2024/2024 |
| Hermansky-Pudlak Syndrome (HPS1) | Hermansky-Pudlak syndrome 1 | Autosomal Recessive | 10q24.2 | Substitution | HPS1 | c.517C?>?T | p.Arg173* | Nonsense | Khan et al., 2024/2024 |
