Table 3.
Clinical phenotypes and molecular genotypes correlations
| CF type | Typical CF | Atypical CF | Total |
|---|---|---|---|
| Two mutations (allele1/allele2) | 60 | 18 | 78 |
| CFTR2, Causative/CFTR2, Causative | 35 | 2 | 37 |
| CFTR2, Causative/CFTR2, Varying consequences | 4 | 11 | 15 |
| CFTR2, Causative/Novel | 1 | 0 | 1 |
| CFTR2, Causative/Previously reported CAVD | 3 | 1 | 4 |
| CFTR2, Causative/Previously reported CFTR | 8 | 1 | 9 |
| CFTR2, Causative/CFTR2, Under evaluation | 0 | 1 | 1 |
| CFTR2, Varying consequences/CFTR2, Varying consequences | 1 | 2 | 3 |
| Previously reported CFTR/Previously reported CFTR | 5 | 0 | 5 |
| Previously reported CFTR/Novel | 1 | 0 | 1 |
| Novel/Novel | 2 | 0 | 2 |
| One mutation (allele1/allele2) | 7 | 16 | 23 |
| CFTR2, Causative/None | 1 | 9 | 10 |
| CFTR2, Under evaluation/None | 1 | 0 | 1 |
| CFTR2, Varying consequences/None | 2 | 6 | 8 |
| Previously reported CFTR/None | 1 | 1 | 2 |
| Previously reported CAVD/None | 1 | 0 | 2 |
| Novel/None | 1 | 0 | 1 |
| No mutations (allele1/allele2) | 8 | 43 | 51 |
| None/None | 8 | 43 | 51 |
| Total | 75 | 77 | 152 |