| | CCDC146, CCDC201 +4735 more | Copy number loss | See cases | |
| | LOC129998995, LOC129998996 +2212 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC129999548, LOC129999549 +1547 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | CFTR, LOC111674467 +7 more | Deletion | Cystic fibrosis | |
| | CFTR, LOC111674468 +1 more | Deletion | Hereditary pancreatitis | |
| | CFTR, LOC111674468 +1 more | Indel | Cystic fibrosis | |
| | | Deletion (splice acceptor variant +1 more) | Cystic fibrosis | |
| | | Deletion | Cystic fibrosis | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Cystic fibrosis | |
| | | Deletion (intron variant) | not specified +3 more | |
| | | Deletion (intron variant) | Cystic fibrosis | |
| | | Single nucleotide variant (intron variant) | CFTR-related condition +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Cystic fibrosis | |
| | | Single nucleotide variant (intron variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Cystic fibrosis | |
| | | Single nucleotide variant (intron variant) | Cystic fibrosis | |
| | | Single nucleotide variant (intron variant) | Cystic fibrosis | |
| | | Deletion (intron variant) | Cystic fibrosis +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Cystic fibrosis | |
| | | Single nucleotide variant (intron variant) | Cystic fibrosis | |
| | | Single nucleotide variant (intron variant) | Hereditary pancreatitis +3 more | |
| | | Single nucleotide variant (intron variant) | Cystic fibrosis | |
| | | Single nucleotide variant (intron variant) | Cystic fibrosis | |
| | | Single nucleotide variant (splice acceptor variant) | Cystic fibrosis +2 more | GConflicting classifications of pathogenicity |
| | CFTR, LOC111674477 (V1415G) | Single nucleotide variant (missense variant) | Cystic fibrosis | |
| | | Single nucleotide variant (synonymous variant) | Cystic fibrosis | |
| | | Single nucleotide variant (synonymous variant) | Cystic fibrosis | |
| | CFTR, LOC111674477 (E1418fs) | Deletion (frameshift variant) | Cystic fibrosis | |
| | CFTR, LOC111674477 (E1417D) | Single nucleotide variant (missense variant) | Cystic fibrosis | |
| | CFTR, LOC111674477 (E1418fs) | Deletion (frameshift variant) | Cystic fibrosis | |
| | CFTR, LOC111674477 (E1418*) | Single nucleotide variant (nonsense) | Cystic fibrosis | GPathogenic/Likely pathogenic |
| | CFTR, LOC111674477 (E1418G) | Single nucleotide variant (missense variant) | Cystic fibrosis | |
| | CFTR, LOC111674477 (N1419I) | Single nucleotide variant (missense variant) | Cystic fibrosis | |
| | CFTR, LOC111674477 (V1421fs) | Deletion (frameshift variant) | Bronchiectasis with or without elevated sweat chloride 1 | |
| | CFTR, LOC111674477 (V1421L) | Single nucleotide variant (missense variant) | Cystic fibrosis | |
| | CFTR, LOC111674477 (V1421L) | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | CFTR, LOC111674477 (V1421E) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | Cystic fibrosis | |
| | CFTR, LOC111674477 (R1422G) | Single nucleotide variant (missense variant) | Cystic fibrosis | |
| | CFTR, LOC111674477 (R1422W) | Single nucleotide variant (missense variant) | not specified +1 more | |
| | CFTR, LOC111674477 (R1422P) | Single nucleotide variant (missense variant) | Cystic fibrosis | |
| | CFTR, LOC111674477 (R1422Q) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | Cystic fibrosis | |
| | | Single nucleotide variant (synonymous variant) | Cystic fibrosis | |
| | CFTR, LOC111674477 (Q1423R) | Single nucleotide variant (missense variant) | Cystic fibrosis | |
| | | Single nucleotide variant (synonymous variant) | Cystic fibrosis | |
| | CFTR, LOC111674477 (Y1424*) | Single nucleotide variant (nonsense) | Cystic fibrosis | GPathogenic/Likely pathogenic |
| | CFTR, LOC111674477 (Y1424*) | Single nucleotide variant (nonsense) | not specified +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | CFTR-related disorders +4 more | GConflicting classifications of pathogenicity |
| | CFTR, LOC111674477 (D1425N) | Single nucleotide variant (missense variant) | not provided | |
| | CFTR, LOC111674477 (S1426P) | Single nucleotide variant (missense variant) | CFTR-related disorders +2 more | GConflicting classifications of pathogenicity |
| | CFTR, LOC111674477 (S1426Y) | Single nucleotide variant (missense variant) | Cystic fibrosis +2 more | |
| | LOC111674477, CFTR (S1426F) | Single nucleotide variant (missense variant) | not specified +3 more | |
| | CFTR, LOC111674477 (I1427T) | Single nucleotide variant (missense variant) | Cystic fibrosis | |
| | | Single nucleotide variant (synonymous variant) | Cystic fibrosis | |
| | | Single nucleotide variant (synonymous variant) | Cystic fibrosis | |
| | | Deletion (inframe_deletion) | Cystic fibrosis | |
| | | Single nucleotide variant (synonymous variant) | Cystic fibrosis | |
| | CFTR, LOC111674477 (L1431R) | Single nucleotide variant (missense variant) | Cystic fibrosis | |
| | | Single nucleotide variant (synonymous variant) | not specified | |
| | CFTR, LOC111674477 (N1432K) | Single nucleotide variant (missense variant) | Cystic fibrosis +2 more | |
| | CFTR, LOC111674477 (S1435fs) | Microsatellite (frameshift variant) | Cystic fibrosis | |
| | | Single nucleotide variant (synonymous variant) | CFTR-related condition +4 more | GConflicting classifications of pathogenicity |
| | CFTR, LOC111674477 (E1433*) | Single nucleotide variant (nonsense) | Bronchiectasis with or without elevated sweat chloride 1 +2 more | GPathogenic/Likely pathogenic |
| | CFTR, LOC111674477 (E1433K) | Single nucleotide variant (missense variant) | not specified +1 more | |
| | CFTR, LOC111674477 (E1433G) | Single nucleotide variant (missense variant) | Cystic fibrosis | |
| | CFTR, LOC111674477 (E1433D) | Single nucleotide variant (missense variant) | Cystic fibrosis | |
| | CFTR, LOC111674477 (S1435fs) | Duplication (frameshift variant) | CFTR-related disorders | |
| | CFTR, LOC111674477 (L1436fs) | Deletion (frameshift variant) | not specified | |
| | CFTR, LOC111674477 (S1435N) | Single nucleotide variant (missense variant) | Cystic fibrosis | |
| | CFTR, LOC111674477 (S1435R) | Single nucleotide variant (missense variant) | Cystic fibrosis | |
| | CFTR, LOC111674477 (R1438fs) | Deletion (frameshift variant) | Cystic fibrosis | |
| | CFTR, LOC111674477 (R1438W) | Single nucleotide variant (missense variant) | not specified +1 more | |
| | CFTR, LOC111674477 (R1438Q) | Single nucleotide variant (missense variant) | not specified +1 more | |
| | | Single nucleotide variant (synonymous variant) | Cystic fibrosis | |
| | CFTR, LOC111674477 (Q1439*) | Single nucleotide variant (nonsense) | Cystic fibrosis | |
| | CFTR, LOC111674477 (A1440G) | Single nucleotide variant (missense variant) | Cystic fibrosis | |
| | | Single nucleotide variant (synonymous variant) | Cystic fibrosis | |
| | CFTR, LOC111674477 (I1441T) | Single nucleotide variant (missense variant) | Cystic fibrosis +1 more | |
| | CFTR, LOC111674477 (I1441M) | Single nucleotide variant (missense variant) | Cystic fibrosis | |
| | CFTR, LOC111674477 (S1442G) | Single nucleotide variant (missense variant) | not provided | |
| | CFTR, LOC111674477 (S1442T) | Single nucleotide variant (missense variant) | Cystic fibrosis | |
| | CFTR, LOC111674477 (S1442fs) | Deletion (frameshift variant) | Cystic fibrosis | |
| | | Single nucleotide variant (synonymous variant) | Cystic fibrosis | |
| | CFTR, LOC111674477 (S1444fs) | Deletion (frameshift variant) | Cystic fibrosis | GPathogenic/Likely pathogenic |
| | CFTR, LOC111674477 (P1443S) | Single nucleotide variant (missense variant) | Cystic fibrosis | GConflicting classifications of pathogenicity |
| | CFTR, LOC111674477 (P1443R) | Single nucleotide variant (missense variant) | Cystic fibrosis | |
| | CFTR, LOC111674477 (P1443L) | Single nucleotide variant (missense variant) | Cystic fibrosis | |
| | | Single nucleotide variant (synonymous variant) | Cystic fibrosis | |
| | | Single nucleotide variant (synonymous variant) | Cystic fibrosis | |
| | LOC111674477, CFTR (S1444F) | Single nucleotide variant (missense variant) | Cystic fibrosis | |
| | | Single nucleotide variant (synonymous variant) | Cystic fibrosis +1 more | GConflicting classifications of pathogenicity |
| | CFTR, LOC111674477 (D1445N) | Single nucleotide variant (missense variant) | CFTR-related condition +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Cystic fibrosis +1 more | |