COG6 NM_020751.3(COG6):c.1145A>G (p.Lys382Arg)

CI-VAR-00209739Explore in graph →p.Lys382ArgNM_020751.3:c.1145A>GClinVar 1419535 rs139371264

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
1419535	Likely benign	criteria provided, single submitter	1	Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome; COG6-congenital disorder of glycosylation; COG6-related disorder; Malignant tumor of esophagus	germline	3	Jan 07, 2026	clinvar