Variant · Snv
CSF1R NM_001288705.3(CSF1R):c.2073G>C (p.Gln691His)
CI-VAR-00211615Explore in graph →p.Gln691HisNM_001288705.3:c.2073G>CClinVar 1420666 rs748641028
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
- 2026-09-06
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Evidence
- database
- License
- Public domain (US Government work, NCBI/NLM); acknowledgment requested
- Run
- ING-CLINVAR-20260908-000001
| Variation | Clinical significance | Review status | Stars | Conditions | Origin | Submitters | Last evaluated | Source |
|---|---|---|---|---|---|---|---|---|
| 1420666 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications | 1 | Brain abnormalities, neurodegeneration, and dysosteosclerosis; Leukoencephalopathy, diffuse hereditary, with spheroids 1; Hereditary diffuse leukoencephalopathy with spheroids | germline | 3 | Oct 16, 2022 | clinvar |