Variant · Snv
SYNE2 NM_182914.3(SYNE2):c.18039-5T>A
CI-VAR-00031625Explore in graph →NM_182914.3:c.18039-5T>AClinVar 193771 rs189611387
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
- 2026-09-24
- Retrieved
- Sep 29, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Evidence
- database
- License
- Public domain (US Government work, NCBI/NLM); acknowledgment requested
- Run
- ING-CLINVAR-20260929-000001
| Variation | Clinical significance | Review status | Stars | Conditions | Origin | Submitters | Last evaluated | Source |
|---|---|---|---|---|---|---|---|---|
| 193771 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 2 | Emery-Dreifuss muscular dystrophy 5, autosomal dominant; SYNE2-related disorder; Clear cell carcinoma of kidney; Colorectal cancer; Sarcoma; Gastric cancer; Malignant tumor of esophagus; Familial cancer of breast; Nonpapillary renal cell carcinoma | germline | 11 | Jan 14, 2026 | clinvar |