IL12RB1 NM_005535.3(IL12RB1):c.824C>T (p.Ala275Val)

CI-VAR-00053293Explore in graph →p.Ala275ValNM_005535.3:c.824C>TClinVar 328590 rs201831465

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
328590	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications	1	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency; Melanoma	germline	3	Dec 31, 2025	clinvar