| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (missense variant) | Acrodermatitis continua suppurativa of Hallopeau +3 more | |
| | | Single nucleotide variant (missense variant) | Autoinflammatory syndrome +3 more | GConflicting classifications of pathogenicity |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
Click to view in NCBI Gene