CDKL5 NM_001323289.2(CDKL5):c.513C>A (p.Tyr171Ter)

CI-VAR-00024828Explore in graph →p.Tyr171TerNM_001323289.2:c.513C>AClinVar 143822 rs267608490

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
143822	Pathogenic	reviewed by expert panel	3	Developmental and epileptic encephalopathy, 2; CDKL5 disorder; Angelman syndrome-like; Thyroid cancer, nonmedullary, 1	germline	7	Mar 09, 2021	clinvar