Variant · Snv
MAP2K1 NM_002755.4(MAP2K1):c.199G>A (p.Asp67Asn)
CI-VAR-00008036Explore in graph →p.Asp67AsnNM_002755.4:c.199G>AClinVar 40781 rs727504317
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
- 2026-09-24
- Retrieved
- Sep 29, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Evidence
- database
- License
- Public domain (US Government work, NCBI/NLM); acknowledgment requested
- Run
- ING-CLINVAR-20260929-000001
| Variation | Clinical significance | Review status | Stars | Conditions | Origin | Submitters | Last evaluated | Source |
|---|---|---|---|---|---|---|---|---|
| 40781 | Pathogenic | reviewed by expert panel | 3 | RASopathy; Cardiofaciocutaneous syndrome 3; Cardio-facio-cutaneous syndrome; Autism spectrum disorder; Noonan syndrome; MAP2K1-related RASopathy; Cardiovascular phenotype; Melorheostosis; Cardiofaciocutaneous syndrome 1; Embryonal rhabdomyosarcoma; MAP2K1-related disorder | germline/somatic | 19 | May 09, 2017 | clinvar |