| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | Immunodeficiency, common variable, 7 +2 more | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency, common variable, 7 +3 more | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency, common variable, 7 +3 more | |
| | | Single nucleotide variant (missense variant) | Systemic lupus erythematosus, susceptibility to, 9 +3 more | |
| | | Single nucleotide variant (intron variant) | Immunodeficiency, common variable, 7 +2 more | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency, common variable, 2 +4 more | |
| | | Deletion (frameshift variant) | Immunodeficiency, common variable, 7 +2 more | |
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