BMPR1A NM_004329.3(BMPR1A):c.994C>T (p.Leu332Phe)

CI-VAR-00203720Explore in graph →p.Leu332PheNM_004329.3:c.994C>TClinVar 1339395 rs2133591377

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
1339395	Uncertain significance	criteria provided, multiple submitters, no conflicts	2	Pulmonary arterial hypertension; Idiopathic and/or familial pulmonary arterial hypertension; Juvenile polyposis syndrome; Hereditary cancer-predisposing syndrome	germline	3	May 15, 2026	clinvar