DYSF NM_001130987.2(DYSF):c.460+2T>G

CI-VAR-00049621Explore in graph →NM_001130987.2:c.460+2T>GClinVar 281140 rs750356247

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
281140	Pathogenic	reviewed by expert panel	3	Autosomal recessive limb-girdle muscular dystrophy type 2B; Distal myopathy with anterior tibial onset; Miyoshi muscular dystrophy 1; Familial cancer of breast; Familial pancreatic carcinoma; Nonpapillary renal cell carcinoma; Acute myeloid leukemia; Autosomal recessive limb-girdle muscular dystrophy	germline	5	Jan 08, 2026	clinvar