GLB1 NM_000404.4(GLB1):c.1480-2A>G

CI-VAR-00005200Explore in graph →NM_000404.4:c.1480-2A>GClinVar 946 rs587776526

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
946	Pathogenic	criteria provided, multiple submitters, no conflicts	2	GM1-gangliosidosis, type I, with cardiac involvement; Mucopolysaccharidosis, MPS-IV-B; GM1 gangliosidosis; Infantile GM1 gangliosidosis; GM1 gangliosidosis type 2; GM1 gangliosidosis type 3; Inborn genetic diseases; Uveal melanoma	germline	10	Mar 31, 2026	clinvar