ALDH18A1 NM_002860.4(ALDH18A1):c.2110G>A (p.Glu704Lys)

CI-VAR-00169753Explore in graph →p.Glu704LysNM_002860.4:c.2110G>AClinVar 985106 rs758219423

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
985106	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications	1	Inborn genetic diseases; Autosomal dominant spastic paraplegia type 9; de Barsy syndrome; Cutis laxa, autosomal dominant 3; ALDH18A1-related disorder; Colon adenocarcinoma	germline	5	Dec 15, 2025	clinvar