| | CFTR, LOC111674472 (L997F) | Single nucleotide variant (missense variant) | CFTR-related disorders +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Cystic fibrosis +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Cystic fibrosis | |
| | LOC111674472, CFTR (V1022M) | Single nucleotide variant (missense variant) | Cystic fibrosis +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | CFTR, LOC111674472 (K1041Q) | Single nucleotide variant (missense variant) | not specified +3 more | |
| | | Single nucleotide variant (intron variant) | Cystic fibrosis +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | CFTR-related condition +1 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +2 more | |
| | CFTR, LOC111674472 (G1069R) | Single nucleotide variant (missense variant) | CFTR-related condition +6 more | GConflicting classifications of pathogenicity |
| | CFTR, LOC111674472 (R1070W) | Single nucleotide variant (missense variant) | ivacaftor response - Efficacy | |
| | CFTR, LOC111674472 (R1070Q) | Single nucleotide variant (missense variant) | ivacaftor response - Efficacy | |
| | CFTR, LOC111674472 (W1089*) | Single nucleotide variant (nonsense) | Cystic fibrosis | |
| | CFTR, LOC111674472 (Y1092H) | Single nucleotide variant (missense variant) | Cystic fibrosis +6 more | GConflicting classifications of pathogenicity |
| | CFTR, LOC111674472 (Y1092*) | Single nucleotide variant (nonsense) | Cystic fibrosis | |
| | | Single nucleotide variant (synonymous variant) | Cystic fibrosis +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Cystic fibrosis +1 more | |
| | CFTR, LOC111674472 (F1099L) | Single nucleotide variant (missense variant) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | CFTR-related condition +3 more | |