Variant · Snv
CBL NM_005188.4(CBL):c.1485G>A (p.Pro495=)
CI-VAR-00008598Explore in graph →p.Pro495=NM_005188.4:c.1485G>AClinVar 45201 rs2229072
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 |
|---|---|---|---|---|---|---|---|---|
| 45201 | Benign | criteria provided, multiple submitters, no conflicts | 2 | CBL-related disorder; RASopathy; Noonan syndrome and Noonan-related syndrome; Cardiovascular phenotype; Juvenile myelomonocytic leukemia; Lung cancer; Clear cell carcinoma of kidney; Gastric cancer | germline | 16 | Feb 03, 2026 | clinvar |