ACVR1 NM_001111067.4(ACVR1):c.617G>A (p.Arg206His)

CI-VAR-00006513Explore in graph →p.Arg206HisNM_001111067.4:c.617G>AClinVar 18309 rs121912678

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
18309	Pathogenic	criteria provided, multiple submitters, no conflicts	2	Progressive myositis ossificans; Inborn genetic diseases; Epicanthus; ACVR1-related disorder; Ependymoma; Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype; Diffuse midline glioma, H3 K27M-mutant	germline/somatic	23	Jun 01, 2026	clinvar