PHOX2B NM_003924.4(PHOX2B):c.691_698dup (p.Gly234fs)

CI-VAR-00183161Explore in graph →p.Gly234fsNM_003924.4:c.691_698dupClinVar 1072410 rs2153112779

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.

clinvarCurated1 interpretation · review status and star rating as assigned by ClinVar.

Variation	Clinical significance	Review status	Stars	Conditions	Origin	Submitters	Last evaluated	Source
1072410	Pathogenic	criteria provided, multiple submitters, no conflicts	2	Haddad syndrome; Hereditary cancer-predisposing syndrome; PHOX2B-related disorder; Neuroblastoma, susceptibility to, 2	germline	7	May 05, 2025	clinvar