| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant +1 more) | Cystic fibrosis +4 more | GPathogenic/Likely pathogenic |
| | | Deletion (nonsense) | Cystic fibrosis | |
| | | Single nucleotide variant (missense variant) | Cystic fibrosis | |
| | | Deletion (inframe_deletion) | Cystic fibrosis | |
| | CFTR, LOC111674472 (S1118F) | Single nucleotide variant (missense variant) | Cystic fibrosis | |
Click to view in NCBI Gene