| | | Single nucleotide variant (splice donor variant) | Cystic fibrosis | |
| | CFTR, LOC111674475 (A559P) | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Cystic fibrosis | |
| | | Single nucleotide variant (missense variant) | Cystic fibrosis | |
| | | Deletion | Cystic fibrosis | |
| | | Deletion | Cystic fibrosis | |
| | | Deletion | Cystic fibrosis | |
| | | Deletion | Cystic fibrosis | |
| | | Single nucleotide variant (nonsense +1 more) | Cystic fibrosis | |
| | | Single nucleotide variant (nonsense +1 more) | Cystic fibrosis | |
| | CFTR, CFTR-AS1 (F508C +1 more) | Single nucleotide variant (missense variant) | Cystic fibrosis | |
| | | Deletion (frameshift variant) | Cystic fibrosis | |
| | | Single nucleotide variant (nonsense) | Cystic fibrosis | |
| | | Single nucleotide variant (missense variant) | Cystic fibrosis | |
| | | Deletion (frameshift variant) | Cystic fibrosis | |
| | | Deletion | Cystic fibrosis | |
| | | Deletion | Cystic fibrosis | |
| | | Single nucleotide variant (splice donor variant) | Cystic fibrosis | |
| | | Deletion | Cystic fibrosis | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (splice donor variant) | CFTR-related condition +1 more | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | CFTR, CFTR-AS1 (G576A +2 more) | Single nucleotide variant (missense variant) | Cystic fibrosis | |
| | LOC111674472, CFTR (M1101I) | Single nucleotide variant (missense variant) | Cystic fibrosis +3 more | |
| | | Single nucleotide variant (splice acceptor variant) | Cystic fibrosis | |
| | | Deletion | Cystic fibrosis | |
| | | Deletion | Cystic fibrosis | |
| | | Deletion | Cystic fibrosis | |
| | | Deletion | Cystic fibrosis | |
| | | Deletion (inframe_deletion +1 more) | Cystic fibrosis | |
| | | Single nucleotide variant (missense variant) | Cystic fibrosis | |
| | CFTR, CFTR-AS1 +1 more (S466* +1 more) | Single nucleotide variant (nonsense +1 more) | Cystic fibrosis | |
| | | Single nucleotide variant (missense variant) | Cystic fibrosis | |
| | | Single nucleotide variant (missense variant) | Cystic fibrosis | |
| | | Single nucleotide variant (missense variant) | Cystic fibrosis | |
| | | Deletion | Cystic fibrosis | |
| | | Deletion (inframe_deletion) | Cystic fibrosis | |
| | | Deletion (frameshift variant) | Cystic fibrosis | |
| | | Single nucleotide variant (splice donor variant) | not specified +1 more | GPathogenic/Likely pathogenic |
| | CFTR, LOC111674472 (W1098C) | Single nucleotide variant (missense variant) | Cystic fibrosis | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Deletion | Cystic fibrosis | |
| | | Deletion | Cystic fibrosis | |
| | | Single nucleotide variant (missense variant) | Cystic fibrosis | |
| | | Deletion (frameshift variant) | Cystic fibrosis | |
| | | Single nucleotide variant (missense variant) | not provided +5 more | |
| | | Single nucleotide variant (nonsense) | Cystic fibrosis | |
| | | Single nucleotide variant (missense variant) | Cystic fibrosis | |
| | | Single nucleotide variant (missense variant) | Cystic fibrosis | |
| | | Single nucleotide variant (splice acceptor variant) | Cystic fibrosis | GPathogenic/Likely pathogenic |
| | | Deletion | Cystic fibrosis | |
| | | Single nucleotide variant (missense variant) | Cystic fibrosis | |
| | | Single nucleotide variant (missense variant) | Cystic fibrosis | |
| | | Duplication (nonsense) | Cystic fibrosis | |
| | | Duplication (nonsense) | Cystic fibrosis | |
| | LOC113664106, CFTR (R59fs) | Duplication (frameshift variant) | Cystic fibrosis | |
| | | Microsatellite (frameshift variant) | Cystic fibrosis | |
| | | Duplication (frameshift variant) | Cystic fibrosis | |
| | | Duplication (frameshift variant) | Cystic fibrosis | |
| | | Microsatellite (frameshift variant) | Cystic fibrosis | |
| | | Duplication (frameshift variant) | Cystic fibrosis | |
| | | Single nucleotide variant (nonsense) | Cystic fibrosis | |
| | | Single nucleotide variant (nonsense) | Cystic fibrosis | |
| | | Deletion | Cystic fibrosis | |
| | | Deletion | Cystic fibrosis | |
| | | Deletion | Cystic fibrosis | |
| | | Deletion | Cystic fibrosis | |
| | | Deletion (frameshift variant) | Cystic fibrosis | |
| | | Deletion (nonsense) | Cystic fibrosis | |
| | | Deletion (frameshift variant) | Cystic fibrosis | |
| | | Single nucleotide variant (intron variant) | Cystic fibrosis | |
| | | Duplication (splice donor variant) | Cystic fibrosis | |
| | LOC111674472, CFTR (Y1073fs) | Duplication (frameshift variant) | Cystic fibrosis | |
| | | Deletion (frameshift variant) | Cystic fibrosis | |
| | | Deletion (splice acceptor variant) | Cystic fibrosis | |
| | CFTR, LOC111674475 (S549R) | Single nucleotide variant (missense variant) | Cystic fibrosis | |
| | | Deletion (frameshift variant) | Cystic fibrosis | |
| | | Single nucleotide variant (missense variant) | Cystic fibrosis +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | CFTR-related condition +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice donor variant) | Bronchiectasis with or without elevated sweat chloride 1 +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice acceptor variant) | Cystic fibrosis | |
| | CFTR, LOC111674477 (S1435fs) | Microsatellite (frameshift variant) | Cystic fibrosis | |
| | | Single nucleotide variant (splice donor variant) | Fetal cystic hygroma +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice donor variant) | Cystic fibrosis | |
| | | Single nucleotide variant (missense variant) | CFTR-related disorders +4 more | GConflicting classifications of pathogenicity |
| | | Deletion (intron variant) | Cystic fibrosis +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Cystic fibrosis | |
| | | Deletion | Cystic fibrosis | |
| | | Deletion | Cystic fibrosis | |
| | | Deletion | Cystic fibrosis | |
| | | Deletion | Cystic fibrosis | |
| | | Deletion | Cystic fibrosis | |
| | | Deletion (frameshift variant) | Cystic fibrosis | |
| | | Deletion | Cystic fibrosis | |
| | | Single nucleotide variant (splice acceptor variant) | Cystic fibrosis | |
| | CFTR, LOC111674472 (W1098X) | Single nucleotide variant (nonsense) | Cystic fibrosis | |
| | | Deletion (frameshift variant) | Cystic fibrosis | |
| | | Deletion | Cystic fibrosis | |
| | | Duplication | Cystic fibrosis | |
| | | Deletion | Cystic fibrosis | |