| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Hermansky-Pudlak Syndrome (HPS8) | oculocutaneous albinism, bleeding diathesis | Autosomal Recessive | 19q13 | Deletion | BLOC1S3 | 448delC | Gln150Argfs*75 | Frame shift mutation & PTC | Morgan et al., 2005/2005 |
| Hermansky-Pudlak Syndrome (HPS8) | Hermansky-Pudlak Syndrome | Autosomal Recessive | 19q13 | Substitution | BLOC1S3 | c.499C>T | p.(Leu167Phe) | Misense | Zafar et al ., 2025/2025 |
