| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +2 more) | Autoinflammatory syndrome +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +10 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Mucopolysaccharidosis, MPS-III-B +10 more | |
Click to view in NCBI Gene