Variant · Snv
CDKL5 NM_001323289.2(CDKL5):c.65G>A (p.Gly22Glu)
CI-VAR-00134554Explore in graph →p.Gly22GluNM_001323289.2:c.65G>AClinVar 803714 rs1602232972
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.
clinvarProvenance
- Source
- NCBI ClinVar (variant_summary)
- Dataset
- ClinVar variant_summary
- Version
- 2026-09-06
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Evidence
- database
- License
- Public domain (US Government work, NCBI/NLM); acknowledgment requested
- Run
- ING-CLINVAR-20260908-000001
| Variation | Clinical significance | Review status | Stars | Conditions | Origin | Submitters | Last evaluated | Source |
|---|---|---|---|---|---|---|---|---|
| 803714 | Likely pathogenic | reviewed by expert panel | 3 | Developmental and epileptic encephalopathy, 2; Angelman syndrome-like; CDKL5 disorder; Thyroid cancer, nonmedullary, 1 | germline | 4 | Apr 14, 2023 | clinvar |