| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Duplication | Familial cold autoinflammatory syndrome 3 | |
| | | Duplication | Familial cold autoinflammatory syndrome 3 | |
| | | Deletion | Familial cold autoinflammatory syndrome 3 | |
| | | Deletion | Familial cold autoinflammatory syndrome 3 | |
| | | Single nucleotide variant (missense variant) | Familial cold autoinflammatory syndrome 3 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation +1 more | |
| | | Single nucleotide variant (intron variant) | Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation | |
| | | Single nucleotide variant (missense variant) | B-cell chronic lymphocytic leukemia | |
| | | Single nucleotide variant (missense variant) | B-cell chronic lymphocytic leukemia | |
| | | Single nucleotide variant (missense variant) | not provided | |
Click to view in NCBI Gene