| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia | |
| | | Single nucleotide variant (missense variant) | See cases +10 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Neutrophil immunodeficiency syndrome | |
| | | Single nucleotide variant (nonsense) | Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia | |
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