POMT2 NM_013382.7(POMT2):c.1404A>G (p.Lys468=)

CI-VAR-00031658Explore in graph →p.Lys468=NM_013382.7:c.1404A>GClinVar 194247 rs150491326

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
194247	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications	1	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2; Autosomal recessive limb-girdle muscular dystrophy type 2N; Lung cancer	germline	11	Feb 04, 2026	clinvar