| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Duplication | Autosomal recessive severe congenital neutropenia due to CSF3R deficiency | |
| | | Duplication (frameshift variant) | not provided | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (missense variant) | Chronic myelogenous leukemia, BCR-ABL1 positive | |
Click to view in NCBI Gene