Variant · Other
JAG1 NM_000214.3(JAG1):c.1349-9_1349-6del
CI-VAR-00215604Explore in graph →NM_000214.3:c.1349-9_1349-6delClinVar 1450533 rs764798214
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 |
|---|---|---|---|---|---|---|---|---|
| 1450533 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications | 1 | Alagille syndrome due to a JAG1 point mutation; Deafness, congenital heart defects, and posterior embryotoxon; Tetralogy of Fallot; Charcot-Marie-Tooth disease, axonal, Type 2HH; Cervical cancer | germline | 3 | Feb 10, 2025 | clinvar |