Variant · Snv
KDM6A R1213*
CI-VAR-00003636Explore in graph →CIViC 2645
Curated evidence
Evidence by cancer (1 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.
civicProvenance
- Source
- CIViC — Clinical Interpretation of Variants in Cancer
- Dataset
- CIViC evidence items
- Version
- civic-2026-09-08
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Evidence
- expert curation
- License
- CC0 1.0
- PMID
- 22377896
- Run
- ING-CIVIC-20260908-000001
| Molecular profile | Therapy | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| Unmapped disease1unmapped disease | ||||||||
| KDM6A R1213* | (functional) | Functional | E | Supports Loss Of Function | 3 | submitted | EID7163Mutations affecting the functional jumonji C (jmjC) domain of KDM6A inactivates its H3K27 demethylase activity 2 mutations occuring after the R1213* variant, p.C1234Y and p.W1319X, are driver mutation… (full text at CIViC) PMID 22377896 · Mar et al., 2012 · Open in CIViC | civic |
ClinVar
Clinical significance (0)
ClinVar interpretations are shown as structured records — significance, review status, star rating, conditions — never flattened into one word.
Data not yet available
No ClinVar interpretation attached to this variant.