| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice acceptor variant) | Bronchiectasis with or without elevated sweat chloride 1 +1 more | GPathogenic/Likely pathogenic |
| | CFTR, LOC111674475 (G544S) | Single nucleotide variant (missense variant) | Cystic fibrosis +1 more | |
| | CFTR, LOC111674475 (S549N) | Single nucleotide variant (missense variant) | ivacaftor response - Efficacy +1 more | GPathogenic; drug response |
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