GOSR2 NM_004287.5(GOSR2):c.336+1G>A

CI-VAR-00033145Explore in graph →NM_004287.5:c.336+1G>AClinVar 211092 rs141554661

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
211092	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts	2	Progressive myoclonic epilepsy type 6; Progressive myoclonic epilepsy; Inborn genetic diseases; Muscular dystrophy, congenital, with or without seizures; GOSR2-related disorder; Colon adenocarcinoma	germline	13	Jun 02, 2026	clinvar