CDH23 NM_022124.6(CDH23):c.6442G>A (p.Asp2148Asn)

CI-VAR-00005435Explore in graph →p.Asp2148AsnNM_022124.6:c.6442G>AClinVar 4922 rs111033271

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
4922	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts	2	Autosomal recessive nonsyndromic hearing loss 12; Rare genetic deafness; Usher syndrome type 2A; Usher syndrome type 1; Pituitary adenoma 5, multiple types; Usher syndrome; CDH23-related disorder; Usher syndrome type 1D; Retinal dystrophy; Monogenic hearing loss	germline	18	Feb 02, 2026	clinvar