| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Ch?diak-Higashi syndrome (LYST) | infantile-onset hemophagocytic,albinism | Autosomal Recessive | 1q42.3 | Deletion | LYST | 9827_9832ATACAA | Asn3276_Thr3277de | Frame shift mutation | Weisfeld-Adams et al., 2013/2013 |
