Vesicoureteral reflux: genes and variants
Explore variant evidence for Vesicoureteral reflux across 2 analyzed proteins (TNXB, NIPBL). Linked ClinVar records include 3 pathogenic or likely pathogenic variants, 50 variants of uncertain significance and 24 with conflicting classifications.
Coverage includes proteins already analyzed in CATVariant, not every gene involved in this condition. Database links are associations, not an assessment of clinical gene–disease validity. Computable evidence prioritizes variants for expert review and does not reclassify them. Source labels are pooled across this disease family.
Data updated 2026-10-11. Automated aggregation, not a clinical review date.
Download variant evidence (CSV)
Genes linked to Vesicoureteral reflux
TNXB: Tenascin-X
Tenascin-X is an extracellular-matrix glycoprotein that supports collagen organization and tissue elasticity. Biallelic variants can cause classical-like Ehlers-Danlos syndrome.
2 ClinVar pathogenic / likely pathogenic and 74 uncertain variants in TNXB have source records linked to Vesicoureteral reflux. Association strength is not clinical gene validity.
NIPBL: Nipped-B-like protein
A cohesin-loading factor that helps place the cohesin complex onto DNA. Pathogenic variants are a major cause of Cornelia de Lange syndrome.
1 ClinVar pathogenic / likely pathogenic and 0 uncertain variants in NIPBL have source records linked to Vesicoureteral reflux. Association strength is not clinical gene validity.
ClinVar pathogenic and likely pathogenic variants linked to Vesicoureteral reflux
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| TNXB E2825K | 2825 | Fibronectin type-III 20 | Pathogenic / likely pathogenic (★★) |
| NIPBL P351L | 351 | Pathogenic / likely pathogenic (★) | |
| TNXB G1331R | 1331 | Fibronectin type-III 6 | Pathogenic / likely pathogenic |
Same protein, different disease
- Cornelia de Lange syndrome also has ClinVar records linked to NIPBL variants; they fall mostly in different places as the Vesicoureteral reflux variants (75 pathogenic / likely pathogenic).
Diseases related to Vesicoureteral reflux
- Ehlers-Danlos syndrome, also linked to TNXB
- Cornelia de Lange syndrome, also linked to NIPBL
- Ehlers-Danlos syndrome due to tenascin-X deficiency, also linked to TNXB
Frequently asked questions
Which genes have records linked to Vesicoureteral reflux?
This view contains 2 analyzed proteins: TNXB, NIPBL. Links come from clinical records and association databases. They do not imply that every listed gene is a validated cause, and missing genes may not yet be analyzed.
What do the clinical classifications mean?
Linked records include 3 pathogenic or likely pathogenic variants, 50 variants of uncertain significance and 24 with conflicting classifications. Labels summarize source records; multi-condition records may not make a separate assertion for this disease. Check the original record and review status.
Does the evidence score change a VUS classification?
No. 0 VUS or conflicting variants reach the likely-pathogenic points range on the computable criteria available here. This is a research prioritization signal, not a clinical classification. Patient, family and other required evidence may be missing.
Can I download the variant evidence?
Download the CSV for all 99 variants in the selected disease scope, including clinical labels, review status, evidence criteria, predictor scores, functional measurements and population frequency where available.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from eligible public CATVariant analyses 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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