Variant · Snv
FLNA NM_001110556.2(FLNA):c.6085C>T (p.His2029Tyr)
CI-VAR-00297135Explore in graph →p.His2029TyrNM_001110556.2:c.6085C>TClinVar 2449572 rs782292372
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
- 2026-09-06
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Evidence
- database
- License
- Public domain (US Government work, NCBI/NLM); acknowledgment requested
- Run
- ING-CLINVAR-20260908-000001
| Variation | Clinical significance | Review status | Stars | Conditions | Origin | Submitters | Last evaluated | Source |
|---|---|---|---|---|---|---|---|---|
| 2449572 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications | 1 | Familial thoracic aortic aneurysm and aortic dissection; Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia; Thyroid cancer, nonmedullary, 1 | germline | 3 | Sep 27, 2024 | clinvar |