| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Kostmann Syndrome (HAX1) | congenital neutropenia | Autosomal Recessive | 1q21.3 | Gross Deletion | HAX1 | c.53+252_634del | - | Frame shift mutation | Roques et al., 2014/2014 |
