CLCN5 NM_001127898.4(CLCN5):c.1249C>T (p.Arg417Ter)

CI-VAR-00032263Explore in graph →p.Arg417TerNM_001127898.4:c.1249C>TClinVar 207996 rs797044810

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
207996	Pathogenic	criteria provided, multiple submitters, no conflicts	2	Dent disease type 1; X-linked recessive nephrolithiasis with renal failure; Hypophosphatemic rickets, X-linked recessive; Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis; Thyroid cancer, nonmedullary, 1	germline	9	Oct 26, 2025	clinvar