| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Severe combined immunodeficiency due to CARMIL2 deficiency | |
| | | Single nucleotide variant (missense variant) | Severe combined immunodeficiency due to CARMIL2 deficiency +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Severe combined immunodeficiency due to CARMIL2 deficiency | |
| | CARMIL2 (G1114del +1 more) | Microsatellite (inframe_deletion) | Severe combined immunodeficiency due to CARMIL2 deficiency | |
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