GAA NM_000152.5(GAA):c.-32-13T>G

CI-VAR-00005393Explore in graph →NM_000152.5:c.-32-13T>GClinVar 4027 rs386834236

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
4027	Pathogenic	reviewed by expert panel	3	Glycogen storage disease, type II; Myopathy; Glycogen storage disease due to acid maltase deficiency, late-onset; Glycogen storage disease, type IV; Cardiovascular phenotype; GAA-related disorder; Glycogen storage disease; Thymoma; Malignant tumor of esophagus; Cervical cancer; Sarcoma; Uterine corpus endometrial carcinoma; Ovarian serous cystadenocarcinoma; Fetal anomalies with a likely genetic cause; GAA-related disorders	germline	66	Oct 01, 2024	clinvar