| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Pustular Dermatosis (IL36RN) | Severe and debilitating autoinflamation | Autosomal Recessive | 2q14.1 | Missense | IL36RN | 62T>C | Leu21Pro | Amino Acid Substitution | 0/Ellingford et al., 2016 |
