POMT1 NM_001077365.2(POMT1):c.1176-2A>G

CI-VAR-00182781Explore in graph →NM_001077365.2:c.1176-2A>GClinVar 1066221 rs746523421

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
1066221	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts	2	Autosomal recessive limb-girdle muscular dystrophy type 2K; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1; Walker-Warburg congenital muscular dystrophy; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1; Ovarian serous cystadenocarcinoma; Thyroid cancer, nonmedullary, 1	germline	5	Nov 01, 2025	clinvar