Bronchiectasis with or without elevated sweat chloride 1: genes and variants
Bronchiectasis with or without elevated sweat chloride 1 is linked to 1 analyzed protein (CFTR). 18 DNA variants are known to cause it; 79 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Bronchiectasis with or without elevated sweat chloride 1
CFTR: Cystic fibrosis transmembrane conductance regulator
An epithelial chloride channel and regulator of salt and water movement across cell surfaces. Its activity helps keep airway, intestinal, and other epithelial fluids balanced, while CFTR disruption causes cystic fibrosis and related disorders.
18 disease-causing and 79 uncertain variants in CFTR are linked to Bronchiectasis with or without elevated sweat chloride 1.
Where Bronchiectasis with or without elevated sweat chloride 1 variants cluster
- CFTR Extracellular (positions 99–122): 3 of 18 disease-causing changes, 10.3× more than its size predicts.
- CFTR Cytoplasmic (positions 147–195): 3 of 18 disease-causing changes, 5.0× more than its size predicts.
- CFTR Cytoplasmic (positions 1035–1095): 3 of 18 disease-causing changes, 4.0× more than its size predicts.
Known disease-causing variants in Bronchiectasis with or without elevated sweat chloride 1
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| CFTR R117G | 117 | ABC transmembrane type-1 1 | Disease-causing (★★) |
| CFTR R117L | 117 | ABC transmembrane type-1 1 | Disease-causing (★★) |
| CFTR G149R | 149 | ABC transmembrane type-1 1 | Disease-causing (★★) |
| CFTR Q237E | 237 | ABC transmembrane type-1 1 | Disease-causing (★★) |
| CFTR T1036I | 1036 | ABC transmembrane type-1 2 | Disease-causing (★★) |
| CFTR W1282R | 1282 | ABC transporter 2 | Disease-causing (★★) |
| CFTR I105N | 105 | ABC transmembrane type-1 1 | Disease-causing (★★) |
| CFTR L145H | 145 | ABC transmembrane type-1 1 | Disease-causing (★★) |
| CFTR I175V | 175 | ABC transmembrane type-1 1 | Disease-causing (★★) |
| CFTR I1005R | 1005 | ABC transmembrane type-1 2 | Disease-causing (★★) |
| CFTR S1045Y | 1045 | ABC transmembrane type-1 2 | Disease-causing (★★) |
| CFTR L1065R | 1065 | ABC transmembrane type-1 2 | Disease-causing (★★) |
| CFTR H139L | 139 | ABC transmembrane type-1 1 | Disease-causing (★★) |
| CFTR S589N | 589 | ABC transporter 1 | Disease-causing (★★) |
| CFTR P1021L | 1021 | ABC transmembrane type-1 2 | Disease-causing (★★) |
| CFTR M152V | 152 | ABC transmembrane type-1 1 | Disease-causing (★★) |
| CFTR I1023R | 1023 | ABC transmembrane type-1 2 | Disease-causing (★★) |
| CFTR G27E | 27 | Cytoplasmic | Disease-causing (★) |
Same protein, different disease
- Cystic fibrosis is also caused by CFTR variants; they fall mostly in different places as the Bronchiectasis with or without elevated sweat chloride 1 variants (155 disease-causing).
- Congenital bilateral aplasia of vas deferens from CFTR mutation is also caused by CFTR variants; they fall mostly in different places as the Bronchiectasis with or without elevated sweat chloride 1 variants (10 disease-causing).
- Ivacaftor response - Efficacy is also caused by CFTR variants; they fall mostly in different places as the Bronchiectasis with or without elevated sweat chloride 1 variants (4 disease-causing).
Diseases related to Bronchiectasis with or without elevated sweat chloride 1
- Cystic fibrosis, also linked to CFTR
- Congenital bilateral aplasia of vas deferens from CFTR mutation, also linked to CFTR
- Hereditary pancreatitis, also linked to CFTR
- Ivacaftor response - Efficacy, also linked to CFTR
Frequently asked questions
Which genes are linked to Bronchiectasis with or without elevated sweat chloride 1?
In CATVariant, Bronchiectasis with or without elevated sweat chloride 1 is linked to 1 analyzed protein: CFTR (Cystic fibrosis transmembrane conductance regulator).
How many genetic variants are linked to Bronchiectasis with or without elevated sweat chloride 1?
97 variants: 18 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 79 are of uncertain significance or have conflicting reports.
Which uncertain variants in Bronchiectasis with or without elevated sweat chloride 1 look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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