AP4S1 NM_001128126.3(AP4S1):c.306+4191A>G

CI-VAR-00020328Explore in graph →NM_001128126.3:c.306+4191A>GClinVar 128407 rs200969079

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
128407	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications	1	Spastic paraplegia; Hereditary spastic paraplegia; Inborn genetic diseases; Thyroid cancer, nonmedullary, 1	germline	9	Jan 12, 2026	clinvar