Variant · Other
HNF4A NM_175914.5(HNF4A):c.944TGC[6] (p.Leu319dup)
CI-VAR-00070804Explore in graph →p.Leu319dupNM_175914.5:c.944TGC[6]ClinVar 435439 rs776489992
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 |
|---|---|---|---|---|---|---|---|---|
| 435439 | Pathogenic | reviewed by expert panel | 3 | Hyperinsulinism due to HNF4A deficiency; Type 2 diabetes mellitus; Maturity-onset diabetes of the young type 1; Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young; Monogenic diabetes | germline | 6 | Apr 06, 2024 | clinvar |