STXBP2 NM_006949.4(STXBP2):c.1247-1G>C

CI-VAR-00054712Explore in graph →NM_006949.4:c.1247-1G>CClinVar 330555 rs140148806

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
330555	Pathogenic	criteria provided, multiple submitters, no conflicts	2	Familial hemophagocytic lymphohistiocytosis; Familial hemophagocytic lymphohistiocytosis 5; HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5, WITHOUT MICROVILLUS INCLUSION DISEASE; Autoinflammatory syndrome; Colon adenocarcinoma; Thyroid cancer, nonmedullary, 1; Malignant tumor of urinary bladder; Lung cancer; STXBP2-related disorder	germline	24	May 23, 2026	clinvar