| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | IRF2BP2, LOC129932812 (P151T) | Single nucleotide variant (missense variant) | Immunodeficiency, common variable, 14 +1 more | |
| | IRF2BP2, LOC129932812 (E115G) | Single nucleotide variant (missense variant) | Immunodeficiency, common variable, 14 | |
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