PHOX2B NM_003924.4(PHOX2B):c.756_776dup (p.Ala254_Ala260dup) — variant · CancerIndex

Variant · Insertion

PHOX2B NM_003924.4(PHOX2B):c.756_776dup (p.Ala254_Ala260dup)

CI-VAR-00071854Explore in graph →p.Ala254_Ala260dupNM_003924.4:c.756_776dupClinVar 452239 rs17879189

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
452239	Pathogenic	criteria provided, multiple submitters, no conflicts	2	Neuroblastoma, susceptibility to, 2; Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease; PHOX2B-related disorder; Congenital central hypoventilation	germline	5	Aug 14, 2025	clinvar