DYSF NM_001130987.2(DYSF):c.1276+5G>A

CI-VAR-00049838Explore in graph →NM_001130987.2:c.1276+5G>AClinVar 289571 rs766433603

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
289571	Pathogenic	reviewed by expert panel	3	Autosomal recessive limb-girdle muscular dystrophy type 2B; Neuromuscular disease caused by qualitative or quantitative defects of dysferlin; Miyoshi muscular dystrophy 1; DYSF-related disorder; Distal myopathy with anterior tibial onset; Autosomal recessive limb-girdle muscular dystrophy; Pancreatic adenocarcinoma	germline	12	Apr 03, 2025	clinvar