EXT1 NM_000127.3(EXT1):c.752del (p.Phe250_Leu251insTer)

CI-VAR-00183321Explore in graph →p.Phe250_Leu251insTerNM_000127.3:c.752delClinVar 1075642 rs2130041954

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
1075642	Pathogenic	criteria provided, multiple submitters, no conflicts	2	Multiple congenital exostosis; Chondrosarcoma; Exostoses, multiple, type 1; EXT1-related disorders	germline	3	Jul 31, 2023	clinvar