B9D1 NM_015681.6(B9D1):c.341G>A (p.Arg114Gln)

CI-VAR-00182664Explore in graph →p.Arg114GlnNM_015681.6:c.341G>AClinVar 1064604 rs778260923

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
1064604	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts	2	Meckel-Gruber syndrome; Joubert syndrome; Joubert syndrome 27; Joubert syndrome and related disorders; B9D1-related disorder; Glioma susceptibility 1	germline	8	Jan 09, 2026	clinvar