Variant · Snv
PHOX2B NM_003924.4(PHOX2B):c.851C>G (p.Pro284Arg)
CI-VAR-00095541Explore in graph →p.Pro284ArgNM_003924.4:c.851C>GClinVar 535774 rs1462459716
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
- 2026-09-14
- Retrieved
- Sep 15, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Evidence
- database
- License
- Public domain (US Government work, NCBI/NLM); acknowledgment requested
- Run
- ING-CLINVAR-20260915-000001
| Variation | Clinical significance | Review status | Stars | Conditions | Origin | Submitters | Last evaluated | Source |
|---|---|---|---|---|---|---|---|---|
| 535774 | Uncertain significance | criteria provided, multiple submitters, no conflicts | 2 | Haddad syndrome; Hereditary cancer-predisposing syndrome; Congenital central hypoventilation; Neuroblastoma, susceptibility to, 2 | germline | 3 | Dec 12, 2025 | clinvar |