| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | CFTR, LOC111674477 (E1418fs) | Deletion (frameshift variant) | Cystic fibrosis | |
| | CFTR, LOC111674477 (R1453W) | Single nucleotide variant (missense variant) | CFTR-related disorder +4 more | GConflicting classifications of pathogenicity |
| | CFTR, LOC111674477 (S1455*) | Single nucleotide variant (nonsense) | Bronchiectasis with or without elevated sweat chloride 1 +3 more | GPathogenic/Likely pathogenic |
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