CEP250 NM_007186.6(CEP250):c.4027C>T (p.Arg1343Ter)

CI-VAR-00206778Explore in graph →p.Arg1343TerNM_007186.6:c.4027C>TClinVar 1441102 rs774612231

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
1441102	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts	2	Cone-rod dystrophy and hearing loss 2; Thyroid cancer, nonmedullary, 1; CEP250-related disorder	germline	4	Oct 24, 2024	clinvar