Variant · Snv
PHOX2B NM_003924.4(PHOX2B):c.227G>C (p.Ser76Thr)
CI-VAR-00082632Explore in graph →p.Ser76ThrNM_003924.4:c.227G>CClinVar 486030 rs532711949
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 |
|---|---|---|---|---|---|---|---|---|
| 486030 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications | 1 | Hereditary cancer-predisposing syndrome; Haddad syndrome; Neuroblastoma, susceptibility to, 2; Congenital central hypoventilation; PHOX2B-related disorder | germline | 7 | Jul 28, 2025 | clinvar |