Variant · Snv
KMT2D NM_003482.4(KMT2D):c.4401C>T (p.Gly1467=)
CI-VAR-00049637Explore in graph →p.Gly1467=NM_003482.4:c.4401C>TClinVar 281493 rs192659833
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 |
|---|---|---|---|---|---|---|---|---|
| 281493 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 2 | Kabuki syndrome; Kabuki syndrome 1; Familial cancer of breast; Colon adenocarcinoma; Gastric cancer | germline | 6 | Jan 27, 2026 | clinvar |