| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +2 more) | Immunodeficiency, common variable, 3 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Copy number loss | Distal 16p11.2 microdeletion syndrome | |
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