Variant · Snv
PHF6 NM_001015877.2(PHF6):c.407A>G (p.His136Arg)
CI-VAR-00274611Explore in graph →p.His136ArgNM_001015877.2:c.407A>GClinVar 2189768 rs774353684
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 |
|---|---|---|---|---|---|---|---|---|
| 2189768 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications | 1 | Borjeson-Forssman-Lehmann syndrome; Inborn genetic diseases; PHF6-related disorder; Nonpapillary renal cell carcinoma | germline | 5 | May 22, 2025 | clinvar |