| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice acceptor variant) | Cystic fibrosis | |
| | CFTR, LOC111674475 (G542*) | Single nucleotide variant (nonsense) | Cystic fibrosis | |
| | CFTR, LOC111674475 (G551S) | Single nucleotide variant (missense variant) | Cystic fibrosis +1 more | GPathogenic; drug response |
| | CFTR, LOC111674475 (R560T) | Single nucleotide variant (missense variant) | Cystic fibrosis | |
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