CDH23 NM_022124.6(CDH23):c.5101G>A (p.Glu1701Lys)

CI-VAR-00271513Explore in graph →p.Glu1701LysNM_022124.6:c.5101G>AClinVar 2136884 rs764025875

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
2136884	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications	1	Pituitary adenoma 5, multiple types; Usher syndrome; Usher syndrome type 1D; Autosomal recessive nonsyndromic hearing loss 12; CDH23-related disorder	germline	6	Apr 18, 2025	clinvar