| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (intron variant) | Deafness-lymphedema-leukemia syndrome +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | Granulomatous disease, chronic, X-linked | |
| | | Single nucleotide variant (missense variant +1 more) | Surfactant metabolism dysfunction, pulmonary, 4 | |
| | | Deletion | Surfactant metabolism dysfunction, pulmonary, 4 | |
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