WAGR syndrome: genes and variants
Explore variant evidence for WAGR syndrome across 1 analyzed protein (WT1). Linked ClinVar records include 5 pathogenic or likely pathogenic variants, 3 variants of uncertain significance and 0 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 2026-10-10. Automated aggregation, not a clinical review date.
Download variant evidence (CSV)
Genes linked to WAGR syndrome
WT1: Wilms tumor protein
It controls transcriptional programs required for kidney and gonadal development and also restrains or promotes cell growth in a context-dependent manner. Germline pathogenic variants cause Wilms-tumor predisposition and Denys-Drash or Frasier syndromes, while somatic alterations occur in some leukemias.
5 ClinVar pathogenic / likely pathogenic and 2 uncertain variants in WT1 have source records linked to WAGR syndrome. Association strength is not clinical gene validity.
Weakly linked (only a few uncertain records): PAX6.
Where WAGR syndrome variants cluster
- WT1 C2H2-type 3 (positions 383–405): 3 of 5 ClinVar pathogenic / likely pathogenic variants, 11.7× more than its size predicts.
ClinVar pathogenic and likely pathogenic variants linked to WAGR syndrome
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| WT1 R366C | 366 | C2H2-type 2 | Pathogenic / likely pathogenic (★★) |
| WT1 R366H | 366 | C2H2-type 2 | Pathogenic / likely pathogenic (★★) |
| WT1 D396N | 396 | C2H2-type 3 | Pathogenic / likely pathogenic (★★) |
| WT1 D396G | 396 | C2H2-type 3 | Pathogenic / likely pathogenic (★) |
| WT1 C385R | 385 | C2H2-type 3 | Pathogenic / likely pathogenic (★) |
Diseases related to WAGR syndrome
- Nephrotic syndrome, also linked to WT1
- Acute myeloid leukemia, also linked to WT1
- Frasier syndrome, also linked to WT1
- Wilms tumor, also linked to WT1
- Kidney disorder, also linked to WT1
Frequently asked questions
Which genes have records linked to WAGR syndrome?
This view contains 1 analyzed proteins: WT1. 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 5 pathogenic or likely pathogenic variants, 3 variants of uncertain significance and 0 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 11 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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