- A description of the consequence, clinical significance, genetic variation and condition of the 26 identified CFTR variants.
| Variant # | cDNA Name | Consequence | Clinical significance | Variation Location | Conditions(s) |
| 1 | c.1521_1523delCT T | deletion of Phe at 508 | Pathogenic | NM_000492.3(CFTR):c.1521_1523delCTT (p.Phe508delPhe) | Cystic fibrosis, Hereditary pancreatitis, |
| 2 | c.1418delG | frameshift | Pathogenic | NM_000492.3(CFTR):c.1418delG (p.Gly473Glufs) | Cystic fibrosis, not provided |
| 3 | c.579+1G>T | mRNA splicing defect | Pathogenic | NM_000492.3(CF7R):c.579+1 G>T | Cystic fibrosis, Hereditary pancreatitis, not specified, |
| 4 | c.2988+1G>A | mRNA splicing defect | Pathogenic | NM_000492.3(CFTR):c.2988+1G>A | Cystic fibrosis, Hereditary pancreatitis |
| 5 | c.3419T>A | MettoLysat1140 | N/A | NM_000492.3(CFTR):c.3419T>A (p.Met1140Lys) | Cystic fbrosis |
| 6 | c.4124A>C | His to Pro at 1375 | Likely pathogenic | NM_000492.3(CFTR):c.4124A>C (p.His1375Pro) | Cystic fibrosis |
| 7 | c.3700A>G | lie to Val at 1234 | Pathogenic | NM_000492.3(CFTR):c.3700A>G(p.lle1234Val) | Cystic fbrosis |
| 8 | c.2739T>A | Tyr to Stop at 913 | Pathogenic | NM 000492.3<CFTR):c.2739T>A (p.Tyr913Ter) | Cystic Fibrosis |
| 9 | c.443T>C | lie to Thr at 148 | Conflicting interpretations of pathogenicity | NM 000492.3(CFTR):c.443T>C (p.lle148Thr) | |
| 10 | c.2657+5G>A | mRNA splicing defect | Pathogenic | NM_000492.3(CFTR):c.2657+5G>A | |
| 11 | 1549 deIG | ||||
| 12 | delExon19-21 | ||||
| 13 | c.16970A | Uncertain significance | NM_000492.3(CFTR):c.1697C>A (pAla566Asp) | Cystic fibrosis | |
| 14 | c.2620-26A>G | mRNA splicing defect | Likely benign(2);Uncertain significance(1) | NM_000492.3(CFTR):c.2620-26A>G | |
| 15 | c.2051_2052delAA insG | frameshift | Pathogenic | NM_000492.3(CFTR):c.2051_2052delAAinsG (pj.ys684Serfs) | Cystic fibrosis |
| 16 | c.1660_1661insA | Notspecifc | NM_000492.3(CFTR):c.1660_1661insA (pAla554Aspfs) | N/A | |
| 17 | c.4251delA | frameshift | pathogenic | (p.Glu1418Argfs) | N/A |
| 18 | c.3717+12191C>T | creation of splice acceptor site | Pathogenic | NM_000492.3(CFTR):c.3718-2477C>T | Cystic fbrosis |
| 19 | c.220C>T | Arg to Trp at 74 | Uncertain significance | NM_000492.3(CFTR):c.220C>T (p.Arg74Trp) | Cystic fibrosis |
| 20 | c.530T>C | lie to Thr at 177 | Uncertain significance | NM_000492.3(CFTR):c.530T>C (p.lie177Thr) | Cystic Fibrosis |
| 21 | c.1408A>G | sequence variation | Benign/Likely benign | NM_000492.3(CFTR):c.1408G>A(p.Val470Met) | |
| 22 | c.2562T>G | sequence variation | Benign/Likely benign | NM_000492.3(CFTR):c.2562T>G(p.Thr854=) | |
| 23 | c.4389G>A | sequence variation | Benign/Likely benign | NM_000492.3(CFTR):c.4389G>A(p.Gln1463=) | |
| 24 | c.869+11C>T | sequence variation | Benign/Likely benign | NM_000492.3(CFTR):c.869+11C>T | |
| 25 | c.91C>T | Conflicting interpretations of pathogenicity | NM_000492.3(CFTR):c.91C>T(p.Arg31Cys) | ||
| 26 | c.1399C>T | sequence variation | Conflicting interpretations of pathogenicity | NM_000492.3(CFTR):c.1399C>T (p.Leu467Phe | Cystic fibrosis, not provided |