| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | CFTR, LOC111674477 (E1473*) | Single nucleotide variant (nonsense) | Bronchiectasis with or without elevated sweat chloride 1 +4 more | GPathogenic/Likely pathogenic |
| | CFTR, LOC111674477 (Q1476*) | Single nucleotide variant (nonsense) | Bronchiectasis with or without elevated sweat chloride 1 +6 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene