ANO5 NM_213599.3(ANO5):c.680G>C (p.Gly227Ala)

CI-VAR-00049666Explore in graph →p.Gly227AlaNM_213599.3:c.680G>CClinVar 282496 rs140903276

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
282496	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications	1	Gnathodiaphyseal dysplasia; Autosomal recessive limb-girdle muscular dystrophy type 2L; ANO5-Related Muscle Diseases; Clear cell carcinoma of kidney; Thyroid cancer, nonmedullary, 1	germline	10	Jan 28, 2026	clinvar