CASR NM_000388.4(CASR):c.748G>A (p.Glu250Lys)

CI-VAR-00031744Explore in graph →p.Glu250LysNM_000388.4:c.748G>AClinVar 196262 rs62269092

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
196262	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications	1	Autosomal dominant hypocalcemia 1; Neonatal severe primary hyperparathyroidism; Familial hypoparathyroidism; Familial hypocalciuric hypercalcemia; Familial hypocalciuric hypercalcemia 1; Hereditary cancer-predisposing syndrome; Epilepsy, idiopathic generalized, susceptibility to, 8; Nephrolithiasis/nephrocalcinosis	germline	18	Feb 01, 2026	clinvar