Variant · Snv
FGFR2 NM_000141.5(FGFR2):c.1032G>A (p.Ala344=)
CI-VAR-00006184Explore in graph →p.Ala344=NM_000141.5:c.1032G>AClinVar 13268 rs121918491
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 |
|---|---|---|---|---|---|---|---|---|
| 13268 | Pathogenic | criteria provided, multiple submitters, no conflicts | 2 | Crouzon syndrome; CRANIOSYNOSTOSIS, NONCLASSIFIABLE AUTOSOMAL DOMINANT; SCAPHOCEPHALY AND AXENFELD-RIEGER ANOMALY; Craniosynostosis syndrome; FGFR2-related craniosynostosis; Acrocephalosyndactyly type I; FGFR2-related disorder; Common craniosynostosis syndromes; Hepatocellular carcinoma; Pfeiffer syndrome | germline | 17 | Jun 12, 2026 | clinvar |