Congenital bilateral aplasia of vas deferens from CFTR mutation: genes and variants
Congenital bilateral aplasia of vas deferens from CFTR mutation is linked to 1 analyzed protein (CFTR). 10 DNA variants are known to cause it; 57 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 Congenital bilateral aplasia of vas deferens from CFTR mutation
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.
10 disease-causing and 57 uncertain variants in CFTR are linked to Congenital bilateral aplasia of vas deferens from CFTR mutation.
Where Congenital bilateral aplasia of vas deferens from CFTR mutation variants cluster
- CFTR ABC transporter 1 (positions 423–646): 4 of 10 disease-causing changes, 2.6× more than its size predicts.
Known disease-causing variants in Congenital bilateral aplasia of vas deferens from CFTR mutation
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| CFTR D614G | 614 | ABC transporter 1 | Disease-causing (★★) |
| CFTR K162E | 162 | ABC transmembrane type-1 1 | Disease-causing (★★) |
| CFTR T465N | 465 | ABC transporter 1 | Disease-causing (★★) |
| CFTR I618T | 618 | ABC transporter 1 | Disease-causing (★★) |
| CFTR T1036I | 1036 | ABC transmembrane type-1 2 | Disease-causing (★★) |
| CFTR N1303I | 1303 | ABC transporter 2 | Disease-causing (★★) |
| CFTR M1T | 1 | Cytoplasmic | Disease-causing (★★) |
| CFTR Q1100P | 1100 | ABC transmembrane type-1 2 | Disease-causing (★★) |
| CFTR S589I | 589 | ABC transporter 1 | Disease-causing (★★) |
| CFTR D58N | 58 | Cytoplasmic | Disease-causing (★) |
Same protein, different disease
- Cystic fibrosis is also caused by CFTR variants; they fall mostly in different places as the Congenital bilateral aplasia of vas deferens from CFTR mutation variants (155 disease-causing).
- Bronchiectasis with or without elevated sweat chloride 1 is also caused by CFTR variants; they fall mostly in different places as the Congenital bilateral aplasia of vas deferens from CFTR mutation variants (18 disease-causing).
- Hereditary pancreatitis is also caused by CFTR variants; they fall mostly in different places as the Congenital bilateral aplasia of vas deferens from CFTR mutation variants (7 disease-causing).
- Ivacaftor response - Efficacy is also caused by CFTR variants; they fall mostly in different places as the Congenital bilateral aplasia of vas deferens from CFTR mutation variants (4 disease-causing).
Diseases related to Congenital bilateral aplasia of vas deferens from CFTR mutation
- Cystic fibrosis, also linked to CFTR
- Bronchiectasis with or without elevated sweat chloride 1, 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 Congenital bilateral aplasia of vas deferens from CFTR mutation?
In CATVariant, Congenital bilateral aplasia of vas deferens from CFTR mutation is linked to 1 analyzed protein: CFTR (Cystic fibrosis transmembrane conductance regulator).
How many genetic variants are linked to Congenital bilateral aplasia of vas deferens from CFTR mutation?
105 variants: 10 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 57 are of uncertain significance or have conflicting reports.
Which uncertain variants in Congenital bilateral aplasia of vas deferens from CFTR mutation 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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