Variant · Snv
ABCB4 NM_000443.4(ABCB4):c.712C>G (p.Leu238Val)
CI-VAR-00031870Explore in graph →p.Leu238ValNM_000443.4:c.712C>GClinVar 198729 rs45596335
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 |
|---|---|---|---|---|---|---|---|---|
| 198729 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications | 1 | ABCB4-related disorder; Uterine corpus endometrial carcinoma; Lung cancer; Familial cancer of breast; Malignant tumor of urinary bladder; Familial intrahepatic cholestasis; Low phospholipid associated cholelithiasis | germline | 8 | Apr 14, 2026 | clinvar |