HGSNAT NM_152419.3(HGSNAT):c.1250+1G>A

CI-VAR-00018306Explore in graph →NM_152419.3:c.1250+1G>AClinVar 96500 rs398124544

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
96500	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts	2	Mucopolysaccharidosis, MPS-III-C; Retinal dystrophy; Retinitis pigmentosa 73; Sanfilippo syndrome; Acute myeloid leukemia; HGSNAT-related disorders	germline	12	Dec 20, 2025	clinvar