Variant · Snv
HNF1B NM_000458.4(HNF1B):c.544C>T (p.Gln182Ter)
CI-VAR-00109445Explore in graph →p.Gln182TerNM_000458.4:c.544C>TClinVar 586801 rs1568670481
Curated evidence
Evidence by cancer (0 items)
Grouped by cancer context first, then therapy. The same variant can be sensitizing in one cancer and irrelevant in another — contexts are never merged. 50 items per page; a cancer group may continue on the next page.
Data not yet available
No curated evidence item references this variant yet.
ClinVar
Clinical significance (1)
ClinVar interpretations are shown as structured records — significance, review status, star rating, conditions — never flattened into one word.
clinvarProvenance
- Source
- NCBI ClinVar (variant_summary)
- Dataset
- ClinVar variant_summary
- Version
- 2026-09-14
- Retrieved
- Sep 15, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Evidence
- database
- License
- Public domain (US Government work, NCBI/NLM); acknowledgment requested
- Run
- ING-CLINVAR-20260915-000001
| Variation | Clinical significance | Review status | Stars | Conditions | Origin | Submitters | Last evaluated | Source |
|---|---|---|---|---|---|---|---|---|
| 586801 | Pathogenic | criteria provided, multiple submitters, no conflicts | 2 | Renal cysts and diabetes syndrome; Maturity-onset diabetes of the young; Type 2 diabetes mellitus; Nonpapillary renal cell carcinoma; HNF1B-related disorder | germline | 11 | Mar 15, 2025 | clinvar |