| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice donor variant) | Immunodeficiency, common variable, 12 +1 more | GPathogenic/Likely pathogenic |
| | | Duplication (nonsense) | Immunodeficiency, common variable, 12 | |
| | | Single nucleotide variant (nonsense) | Inherited Immunodeficiency Diseases +3 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant) | Immunodeficiency, common variable, 12 +2 more | GPathogenic/Likely pathogenic |
| | | Deletion | Immunodeficiency, common variable, 12 | |
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