PDE6B NM_000283.4(PDE6B):c.2193+1G>A

CI-VAR-00025881Explore in graph →NM_000283.4:c.2193+1G>AClinVar 167440 rs727504075

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
167440	Pathogenic	criteria provided, multiple submitters, no conflicts	2	Retinitis pigmentosa 40; Retinitis pigmentosa; Congenital stationary night blindness autosomal dominant 2; PDE6B-related disorder; Thyroid cancer, nonmedullary, 1	germline	17	May 15, 2026	clinvar