| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | CFTR, LOC111674477 (S1435fs) | Microsatellite (frameshift variant) | Cystic fibrosis | |
| | CFTR, LOC111674477 (F1450fs) | Indel (frameshift variant) | Cystic fibrosis | |
| | CFTR, LOC111674477 (Q1476*) | Single nucleotide variant (nonsense) | Bronchiectasis with or without elevated sweat chloride 1 +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (stop lost) | Cystic fibrosis | |
Click to view in NCBI Gene