Variant · Snv
MAN2B1 NM_000528.4(MAN2B1):c.718C>T (p.Arg240Trp)
CI-VAR-00108126Explore in graph →p.Arg240TrpNM_000528.4:c.718C>TClinVar 565747 rs201448121
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 |
|---|---|---|---|---|---|---|---|---|
| 565747 | Uncertain significance | criteria provided, multiple submitters, no conflicts | 2 | Deficiency of alpha-mannosidase; Familial cancer of breast | germline | 5 | Mar 13, 2025 | clinvar |