| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC129998866, LOC129998867
+2 more | Deletion (genic upstream transcript variant) | Combined immunodeficiency | |
| | | Insertion (frameshift variant) | Inherited Immunodeficiency Diseases | |
| | | Deletion (frameshift variant) | Combined immunodeficiency +1 more | |
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