| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | Systemic lupus erythematosus, susceptibility to, 9 +1 more | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency, common variable, 7 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Immunodeficiency, common variable, 7 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Immunodeficiency, common variable, 7 +1 more | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency, common variable, 7 | |
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