| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Infantile-onset periodic fever-panniculitis-dermatosis syndrome | |
| | | Single nucleotide variant (missense variant) | Infantile-onset periodic fever-panniculitis-dermatosis syndrome | |
| | | Copy number loss | 5p partial monosomy syndrome | |
Click to view in NCBI Gene