| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Proteasome-associated autoinflammatory syndrome 3 +1 more | |
| | | Single nucleotide variant (synonymous variant) | not specified | |
| | | Insertion | not specified | |
| | | Single nucleotide variant | not specified | |
| | | Single nucleotide variant | not specified | |
Click to view in NCBI Gene