CDH23 NM_022124.6(CDH23):c.5237G>A (p.Arg1746Gln)

CI-VAR-00005431Explore in graph →p.Arg1746GlnNM_022124.6:c.5237G>AClinVar 4916 rs111033270

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
4916	Pathogenic	criteria provided, multiple submitters, no conflicts	2	Usher syndrome type 1D; Pituitary adenoma 5, multiple types; Autosomal recessive nonsyndromic hearing loss 12; Rare genetic deafness; Usher syndrome type 1; Childhood onset hearing loss; Usher syndrome; Inborn genetic diseases; CDH23-related disorder; Retinal disorder	germline	19	Jan 27, 2026	clinvar