ANO5 NM_213599.3(ANO5):c.294G>A (p.Ala98=)

CI-VAR-00031815Explore in graph →p.Ala98=NM_213599.3:c.294G>AClinVar 197907 rs142858990

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
197907	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications	1	Autosomal recessive limb-girdle muscular dystrophy type 2L; Gnathodiaphyseal dysplasia; ANO5-Related Muscle Diseases; Clear cell carcinoma of kidney	germline	10	Mar 01, 2026	clinvar