Variant · Snv
HNF4A NM_175914.5(HNF4A):c.200G>A (p.Arg67Gln)
CI-VAR-00070803Explore in graph →p.Arg67GlnNM_175914.5:c.200G>AClinVar 435436 rs1555813319
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 |
|---|---|---|---|---|---|---|---|---|
| 435436 | Pathogenic | reviewed by expert panel | 3 | Hyperinsulinism due to HNF4A deficiency; Maturity-onset diabetes of the young; Maturity-onset diabetes of the young type 1; Monogenic diabetes; Type 2 diabetes mellitus; Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young | germline | 9 | Apr 05, 2024 | clinvar |