| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Familial Haemophagocytic Lym 5 (STXBP2) | hemophagocytic lymphohistiocytosis | Autosomal Recessive | 19p13.2 | Missense | STXBP2 | 1214G>A | Arg405Gln | Amino Acid Substitution | Cetica et al., 2010/2010 |
