NFU1 NM_001002755.4(NFU1):c.545G>A (p.Arg182Gln)

CI-VAR-00176463Explore in graph →p.Arg182GlnNM_001002755.4:c.545G>AClinVar 1031688 rs1281276965

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
1031688	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts	2	Multiple mitochondrial dysfunctions syndrome 1; NFU1-related disorder; Uterine corpus endometrial carcinoma; Spastic paraplegia 93, autosomal recessive	germline	7	Oct 01, 2025	clinvar