| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Cyclical neutropenia +2 more | |
| | | Single nucleotide variant (missense variant) | Cyclical neutropenia +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Cyclical neutropenia +2 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Cyclical neutropenia +2 more | |
| | | Single nucleotide variant (missense variant) | ELANE-related disorder +4 more | |
| | | Single nucleotide variant (nonsense) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Cyclical neutropenia +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Cyclical neutropenia +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Cyclical neutropenia +2 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene