| | | Single nucleotide variant (splice acceptor variant) | Cystic fibrosis | |
| | | Single nucleotide variant (splice acceptor variant) | Cystic fibrosis | |
| | CFTR, LOC111674472 (V1001fs) | Microsatellite (frameshift variant) | Cystic fibrosis | |
| | CFTR, LOC111674472 (V1001M) | Single nucleotide variant (missense variant) | Cystic fibrosis +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | CFTR, LOC111674472 (A1009T) | Single nucleotide variant (missense variant) | not specified +3 more | |
| | CFTR, LOC111674472 (Y1014fs) | Duplication (frameshift variant) | Cystic fibrosis | |
| | CFTR, LOC111674472 (P1013S) | Single nucleotide variant (missense variant) | not specified +1 more | |
| | CFTR, LOC111674472 (Y1014fs) | Deletion (frameshift variant) | Cystic fibrosis | |
| | CFTR, LOC111674472 (P1013L) | Single nucleotide variant (missense variant) | Cystic fibrosis +1 more | GConflicting classifications of pathogenicity |
| | CFTR, LOC111674472 (P1013H) | Single nucleotide variant (missense variant) | Bronchiectasis with or without elevated sweat chloride 1 +5 more | |
| | CFTR, LOC111674472 (P1021S) | Single nucleotide variant (missense variant) | Cystic fibrosis | GConflicting classifications of pathogenicity |
| | | Deletion (inframe_deletion) | Cystic fibrosis | |
| | CFTR, LOC111674472 (V1022M) | Single nucleotide variant (missense variant) | CFTR-related disorder +1 more | |
| | CFTR, LOC111674472 (V1022L) | Single nucleotide variant (missense variant) | not specified +1 more | |
| | | Single nucleotide variant (missense variant) | not specified +3 more | GConflicting classifications of pathogenicity |
| | CFTR, LOC111674472 (M1028R) | Single nucleotide variant (missense variant) | Cystic fibrosis +2 more | GConflicting classifications of pathogenicity |
| | CFTR, LOC111674472 (L1034R) | Single nucleotide variant (missense variant) | Cystic fibrosis | |
| | CFTR, LOC111674472 (Q1035*) | Single nucleotide variant (nonsense) | Cystic fibrosis | |
| | CFTR, LOC111674472 (K1041Q) | Single nucleotide variant (missense variant) | not specified +3 more | |
| | CFTR, LOC111674472 (Q1042*) | Single nucleotide variant (nonsense) | Cystic fibrosis | |
| | LOC111674472, CFTR (L1043Q) | Single nucleotide variant (missense variant) | not specified | |
| | CFTR, LOC111674472 (G1047S) | Single nucleotide variant (missense variant) | Cystic fibrosis | |
| | | Deletion (splice donor variant) | Congenital bilateral aplasia of vas deferens from CFTR mutation +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (splice donor variant) | Cystic fibrosis | |
| | | Single nucleotide variant (intron variant) | not specified +1 more | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | Cystic fibrosis | |
| | CFTR, LOC111674472 (I1051V) | Single nucleotide variant (missense variant) | Bronchiectasis with or without elevated sweat chloride 1 +5 more | |
| | CFTR, LOC111674472 (T1053S) | Single nucleotide variant (missense variant) | Cystic fibrosis | |
| | CFTR, LOC111674472 (T1053I) | Single nucleotide variant (missense variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | CFTR, LOC111674472 (H1054Y) | Single nucleotide variant (missense variant) | Cystic fibrosis | |
| | LOC111674472, CFTR (H1054D) | Single nucleotide variant (missense variant) | Cystic fibrosis | |
| | CFTR, LOC111674472 (H1054L) | Single nucleotide variant (missense variant) | Cystic fibrosis +1 more | |
| | CFTR, LOC111674472 (T1057A) | Single nucleotide variant (missense variant) | not specified +2 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +2 more | |
| | | Single nucleotide variant (missense variant) | Cystic fibrosis | |
| | CFTR, LOC111674472 (L1065P) | Single nucleotide variant (missense variant) | Cystic fibrosis | |
| | CFTR, LOC111674472 (R1066C) | Single nucleotide variant (missense variant) | Cystic fibrosis | |
| | CFTR, LOC111674472 (R1066H) | Single nucleotide variant (missense variant) | Cystic fibrosis | |
| | CFTR, LOC111674472 (A1067T) | Single nucleotide variant (missense variant) | ivacaftor response - Efficacy | |
| | | Single nucleotide variant (synonymous variant) | Cystic fibrosis +2 more | GConflicting classifications of pathogenicity |
| | CFTR, LOC111674472 (G1069R) | Single nucleotide variant (missense variant) | not specified +5 more | GConflicting classifications of pathogenicity |
| | CFTR, LOC111674472 (P1072S) | Single nucleotide variant (missense variant) | Cystic fibrosis | |
| | CFTR, LOC111674472 (L1077P) | Single nucleotide variant (missense variant) | Cystic fibrosis | |
| | CFTR, LOC111674472 (K1080Q) | Single nucleotide variant (missense variant) | Cystic fibrosis +2 more | |
| | CFTR, LOC111674472 (K1080R) | Single nucleotide variant (missense variant) | Cystic fibrosis | |
| | CFTR, LOC111674472 (T1086A) | Single nucleotide variant (missense variant) | not provided +2 more | |
| | CFTR, LOC111674472 (T1086S) | Single nucleotide variant (missense variant) | not provided +4 more | |
| | CFTR, LOC111674472 (W1089*) | Single nucleotide variant (nonsense) | Cystic fibrosis | |
| | CFTR, LOC111674472 (W1089C) | Single nucleotide variant (missense variant) | not specified +2 more | |
| | CFTR, LOC111674472 (Y1092H) | Single nucleotide variant (missense variant) | Bronchiectasis with or without elevated sweat chloride 1 +6 more | GConflicting classifications of pathogenicity |
| | CFTR, LOC111674472 (Y1092*) | Single nucleotide variant (nonsense) | Cystic fibrosis | |
| | CFTR, LOC111674472 (Y1092*) | Single nucleotide variant (nonsense) | Cystic fibrosis | |
| | | Single nucleotide variant (synonymous variant) | not specified +4 more | GConflicting classifications of pathogenicity |
| | CFTR, LOC111674472 (R1097C) | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | CFTR, LOC111674472 (W1098G) | Single nucleotide variant (missense variant) | Cystic fibrosis | |
| | CFTR, LOC111674472 (W1098R) | Single nucleotide variant (missense variant) | Cystic fibrosis | |
| | LOC111674472, CFTR (W1098*) | Single nucleotide variant (nonsense) | Cystic fibrosis | |
| | CFTR, LOC111674472 (W1098X) | Single nucleotide variant (nonsense) | Cystic fibrosis | |
| | CFTR, LOC111674472 (Q1100P) | Single nucleotide variant (missense variant) | Cystic fibrosis +2 more | GPathogenic/Likely pathogenic |
| | CFTR, LOC111674472 (M1101K) | Single nucleotide variant (missense variant) | Cystic fibrosis | |
| | CFTR, LOC111674472 (M1101I) | Single nucleotide variant (missense variant) | Bronchiectasis with or without elevated sweat chloride 1 +3 more | |
| | CFTR, LOC111674472 (R1102*) | Single nucleotide variant (nonsense) | Cystic fibrosis | |
| | CFTR, LOC111674472 (E1104*) | Single nucleotide variant (nonsense) | Cystic fibrosis | |
| | CFTR, LOC111674472 (M1105I) | Single nucleotide variant (missense variant) | Cystic fibrosis | |
| | CFTR, LOC111674472 (F1107L) | Single nucleotide variant (missense variant) | Congenital bilateral aplasia of vas deferens from CFTR mutation +2 more | GConflicting classifications of pathogenicity |
| | CFTR, LOC111674472 (V1108L) | Single nucleotide variant (missense variant) | not specified +2 more | |
| | CFTR, LOC111674472 (I1109V) | Single nucleotide variant (missense variant) | not specified +1 more | |
| | CFTR, LOC111674472 (I1117T) | Single nucleotide variant (missense variant) | Cystic fibrosis | |
| | CFTR, LOC111674472 (I1119T) | Single nucleotide variant (missense variant) | not specified | |
| | LOC111674472, CFTR (T1122A) | Single nucleotide variant (missense variant) | Cystic fibrosis | |