Links from MedGen
Items: 5
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not specified +1 more | |
| | | Deletion (frameshift variant) | Immunodeficiency 70 | |
| | | Single nucleotide variant (nonsense) | Immunodeficiency 70 | |
| | | Single nucleotide variant (nonsense) | Immunodeficiency 70 | |
| | | Deletion | Immunodeficiency 70 | |
Click to view in NCBI Gene