Variant · Snv
MKS1 NM_017777.4(MKS1):c.1388G>A (p.Arg463Gln)
CI-VAR-00049771Explore in graph →p.Arg463GlnNM_017777.4:c.1388G>AClinVar 286884 rs201619500
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 |
|---|---|---|---|---|---|---|---|---|
| 286884 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications | 1 | Meckel syndrome, type 1; Bardet-Biedl syndrome; Meckel-Gruber syndrome; Joubert syndrome; Bardet-Biedl syndrome 13; Uterine corpus endometrial carcinoma; Sarcoma; Thymoma; Thyroid cancer, nonmedullary, 1; Cervical cancer; Early onset severe obesity | germline | 17 | Feb 01, 2026 | clinvar |