ACVRL1 NM_000020.3(ACVRL1):c.330G>A (p.Ser110=)

CI-VAR-00033236Explore in graph →p.Ser110=NM_000020.3:c.330G>AClinVar 212791 rs77341011

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
212791	Benign	criteria provided, multiple submitters, no conflicts	2	Telangiectasia, hereditary hemorrhagic, type 2; Cardiovascular phenotype; Clear cell carcinoma of kidney; Gastric cancer; Lung cancer; Melanoma	germline	14	Feb 04, 2026	clinvar