| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Cystic fibrosis | |
| | CFTR, LOC111674475 (G551fs) | Deletion (frameshift variant) | Cystic fibrosis | |
| | | Single nucleotide variant (missense variant) | CFTR-related disorder +6 more | |
| | CFTR, LOC111674472 (I1023R) | Single nucleotide variant (missense variant) | Bronchiectasis with or without elevated sweat chloride 1 +2 more | GConflicting classifications of pathogenicity |
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