| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant) | Immunodeficiency 14b, autosomal recessive | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency 14 | |
| | LOC126805612, PIK3CD (A479T +1 more) | Single nucleotide variant (missense variant) | Immunodeficiency 14 | |
| | | Single nucleotide variant (intron variant) | Immunodeficiency 14 | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inherited Immunodeficiency Diseases +5 more | |
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