| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Cystic fibrosis | |
| | | Deletion (inframe_deletion) | Cystic fibrosis | |
| | | Single nucleotide variant (missense variant) | Cystic fibrosis | |
| | | Single nucleotide variant (missense variant) | Bronchiectasis with or without elevated sweat chloride 1 +5 more | GConflicting classifications of pathogenicity |
| | LOC111674472, CFTR (R1070Q) | Single nucleotide variant (missense variant) | ivacaftor response - Efficacy | |
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