EXT1 NM_000127.3(EXT1):c.1450A>T (p.Ile484Phe)

CI-VAR-00162874Explore in graph →p.Ile484PheNM_000127.3:c.1450A>TClinVar 938857 rs763107867

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
938857	Uncertain significance	criteria provided, multiple submitters, no conflicts	2	Multiple congenital exostosis; Chondrosarcoma; Inborn genetic diseases	germline	3	Jan 08, 2026	clinvar