| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Autosomal recessive severe congenital neutropenia due to CSF3R deficiency +3 more | |
| | | Single nucleotide variant (nonsense) | Inherited Immunodeficiency Diseases +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | Hereditary neutrophilia +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not specified +3 more | |
Click to view in NCBI Gene