GBE1 NM_000158.4(GBE1):c.691+2T>C

CI-VAR-00032280Explore in graph →NM_000158.4:c.691+2T>CClinVar 208584 rs192044702

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
208584	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts	2	Glycogen storage disease, type IV; GBE1-related disorder; Glycogen storage disease IV, classic hepatic; Adult polyglucosan body disease; Glycogen storage disease; Inborn genetic diseases; Arthrogryposis syndrome; Dementia; Clear cell carcinoma of kidney; Familial pancreatic carcinoma; Acute myeloid leukemia; Familial cancer of breast; Sarcoma; Adrenocortical carcinoma, hereditary	germline	39	Jun 01, 2026	clinvar