CEP290 NM_025114.4(CEP290):c.6787A>G (p.Ser2263Gly)

CI-VAR-00024822Explore in graph →p.Ser2263GlyNM_025114.4:c.6787A>GClinVar 143156 rs77778467

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
143156	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications	1	Leber congenital amaurosis 10; Meckel syndrome, type 4; Joubert syndrome; Nephronophthisis; Meckel-Gruber syndrome; Joubert syndrome 1; Joubert syndrome 5; Senior-Loken syndrome 6; Bardet-Biedl syndrome 14; Leber congenital amaurosis; Retinal dystrophy; Hepatocellular carcinoma; Malignant tumor of esophagus	germline	14	Feb 04, 2026	clinvar