| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Pelger-Huet-like anomaly and episodic fever with abdominal pain | |
| | | Single nucleotide variant (missense variant +1 more) | Leukocyte adhesion deficiency 1 | |
| | | Single nucleotide variant (nonsense) | Leukocyte adhesion deficiency 1 | GPathogenic/Likely pathogenic |
| | | Deletion | Surfactant metabolism dysfunction, pulmonary, 4 | |
| | | Single nucleotide variant (missense variant +1 more) | Surfactant metabolism dysfunction, pulmonary, 4 | |
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