AHI1 NM_001134831.2(AHI1):c.989A>G (p.Asp330Gly)

CI-VAR-00033664Explore in graph →p.Asp330GlyNM_001134831.2:c.989A>GClinVar 215522 rs200201741

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
215522	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications	1	Joubert syndrome; Joubert syndrome 3; AHI1-related disorder; Inborn genetic diseases; Cholangiocarcinoma; Lung cancer	germline	10	Jan 26, 2026	clinvar