CDKL5 NM_001323289.2(CDKL5):c.100G>T (p.Glu34Ter)

CI-VAR-00270730Explore in graph →p.Glu34TerNM_001323289.2:c.100G>TClinVar 2138478 rs2518834440

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
2138478	Pathogenic	criteria provided, single submitter	1	Developmental and epileptic encephalopathy, 2; Angelman syndrome-like; Nonpapillary renal cell carcinoma	germline	2	Mar 19, 2022	clinvar