| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Indel | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Common variable immunodeficiency +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Immunodeficiency, common variable, 2 | |
| | | Single nucleotide variant (missense variant) | Immune deficiency, familial variable +23 more | GConflicting classifications of pathogenicity; risk factor |
| | | Copy number gain | Potocki-Lupski syndrome | |
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