| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant +1 more) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +1 more) | Severe combined immunodeficiency due to DCLRE1C deficiency | |
| | | Single nucleotide variant (missense variant +3 more) | Severe combined immunodeficiency due to DCLRE1C deficiency | |
Click to view in NCBI Gene