| | | Single nucleotide variant (5 prime UTR variant) | CFTR-related disorder +4 more | |
| | | Single nucleotide variant (splice acceptor variant) | Cystic fibrosis | |
| | | Single nucleotide variant (missense variant) | ivacaftor response - Efficacy | |
| | | Single nucleotide variant (missense variant) | Hereditary pancreatitis +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | CFTR-related disorder +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Cystic fibrosis | |
| | | Single nucleotide variant (intron variant) | Cystic fibrosis +1 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (intron variant) | not specified +2 more | |
| | | Single nucleotide variant (missense variant) | Congenital bilateral aplasia of vas deferens from CFTR mutation +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not specified +3 more | |
| | | Single nucleotide variant (missense variant) | not specified +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Cystic fibrosis +1 more | |
| | | Microsatellite (intron variant) | Congenital bilateral aplasia of vas deferens from CFTR mutation +5 more | |
| | | Microsatellite (intron variant) | not provided +3 more | |
| | | Single nucleotide variant (intron variant) | CFTR-related disorder +7 more | |
| | | Duplication (intron variant) | Cystic fibrosis +3 more | |
| | | Deletion (intron variant) | not provided +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Cystic fibrosis +2 more | GPathogenic/Likely pathogenic; other |
| | | Single nucleotide variant (missense variant) | Bronchiectasis with or without elevated sweat chloride 1 +5 more | |
| | | Single nucleotide variant (missense variant) | Cystic fibrosis +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not specified +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Cystic fibrosis | |
| | | Single nucleotide variant (splice acceptor variant) | Cystic fibrosis | |
| | | Single nucleotide variant (nonsense) | Cystic fibrosis | |
| | | Single nucleotide variant (missense variant) | not specified +3 more | |
| | | Deletion (frameshift variant) | Cystic fibrosis | |
| | | Deletion (inframe_deletion) | Cystic fibrosis | |
| | | Single nucleotide variant (missense variant) | Hereditary pancreatitis +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Hereditary pancreatitis +4 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +5 more | GConflicting classifications of pathogenicity |
| | CFTR, LOC111674475 (G551D) | Single nucleotide variant (missense variant) | Cystic fibrosis | |
| | | Single nucleotide variant (intron variant) | Cystic fibrosis | |
| | | Single nucleotide variant (intron variant) | not specified +1 more | |
| | | Indel (intron variant) | Cystic fibrosis | |
| | | Single nucleotide variant (intron variant) | not specified +2 more | |
| | | Single nucleotide variant (missense variant) | Bronchiectasis with or without elevated sweat chloride 1 +5 more | |
| | | Single nucleotide variant (missense variant) | CFTR-related disorder +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Cystic fibrosis | |
| | | Single nucleotide variant (missense variant) | Hereditary pancreatitis +5 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Cystic fibrosis | |
| | | Single nucleotide variant (missense variant) | Hereditary pancreatitis +6 more | GConflicting classifications of pathogenicity |
| | | Duplication (frameshift variant) | Cystic fibrosis | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not specified +4 more | |
| | | Single nucleotide variant (intron variant) | Cystic fibrosis | |
| | | Single nucleotide variant (synonymous variant) | not provided +3 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Cystic fibrosis | |
| | | Single nucleotide variant (splice acceptor variant) | Cystic fibrosis | |
| | | Single nucleotide variant (synonymous variant) | Cystic fibrosis +1 more | |
| | CFTR, LOC111674472 (R1070W) | Single nucleotide variant (missense variant) | ivacaftor response - Efficacy | |
| | CFTR, LOC111674472 (K1080Q) | Single nucleotide variant (missense variant) | Cystic fibrosis +2 more | |
| | | Single nucleotide variant (synonymous variant) | CFTR-related disorder +4 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Cystic fibrosis | |
| | | Single nucleotide variant (nonsense) | Cystic fibrosis | |
| | | Single nucleotide variant (missense variant) | not specified +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Cystic fibrosis | |
| | | Single nucleotide variant (missense variant) | Hereditary pancreatitis +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Cystic fibrosis | |
| | | Single nucleotide variant (synonymous variant) | CFTR-related disorder +3 more | |
| | | Single nucleotide variant (synonymous variant) | CFTR-related disorder +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Cystic fibrosis +2 more | |
| | | Single nucleotide variant (intron variant) | CFTR-related disorder +4 more | |
| | | Single nucleotide variant (synonymous variant) | CFTR-related disorder +4 more | |