ABCA4 NM_000350.3(ABCA4):c.6119G>A (p.Arg2040Gln)

CI-VAR-00024818Explore in graph →p.Arg2040GlnNM_000350.3:c.6119G>AClinVar 143076 rs148460146

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
143076	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts	2	Severe early-childhood-onset retinal dystrophy; Retinal dystrophy; Retinitis pigmentosa 19; ABCA4-related disorder; Cone-rod dystrophy 3; Age related macular degeneration 2; Stargardt disease; Thyroid cancer, nonmedullary, 1	germline	16	Jun 12, 2026	clinvar