ALDH18A1 NM_002860.4(ALDH18A1):c.2110+13A>G

CI-VAR-00052212Explore in graph →NM_002860.4:c.2110+13A>GClinVar 301758 rs375782465

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
301758	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications	1	ALDH18A1-related de Barsy syndrome; de Barsy syndrome; Autosomal dominant spastic paraplegia type 9; Cutis laxa, autosomal dominant 3; Malignant lymphoma, large B-cell, diffuse	germline	5	Jan 05, 2026	clinvar