CDKL1 — 40 ClinVar variants
All ClinVar germline CDKL1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 15 flagged for review →
1 Likely benign · 39 Uncertain significance
Full CDKL1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 15
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors lean, ClinVar uncertain 14
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CDKL1 p.Asn121Ser Uncertain significance Single submitter
- CDKL1 p.Asp184Glu Uncertain significance Single submitter
- CDKL1 p.Gln109Pro Uncertain significance Single submitter
- CDKL1 p.Glu51Ala Uncertain significance Single submitter
- CDKL1 p.His101Tyr Uncertain significance Single submitter
- CDKL1 p.His60Leu Uncertain significance Single submitter
- CDKL1 p.Ile123Val Uncertain significance Single submitter
- CDKL1 p.Leu264Pro Uncertain significance Single submitter
- CDKL1 p.Lys59Arg Uncertain significance Single submitter
- CDKL1 p.Pro259His Uncertain significance Single submitter
- CDKL1 p.Pro61Thr Uncertain significance Single submitter
- CDKL1 p.Ser321Thr Uncertain significance Single submitter
- CDKL1 p.Thr177Met Uncertain significance Single submitter
- CDKL1 p.Val103Met Uncertain significance Single submitter
Predictors split 1
The independent predictors disagree with each other — read with care.
All CDKL1 variants
Likely benign 1
- p.Arg312Gln Single submitter
Uncertain significance 39
- p.Ala48Val Single submitter
- p.Arg53Gly Single submitter
- p.Arg74Trp Single submitter
- p.Asn121Ser Single submitter ⚠
- p.Asp184Glu Single submitter ⚠
- p.Asp41Glu Single submitter ⚠
- p.Cys190Tyr Single submitter
- p.Cys21Arg Single submitter
- p.Gln109Pro Single submitter ⚠
- p.Glu37Ala Single submitter
- p.Glu37Val Single submitter
- p.Glu51Ala Single submitter ⚠
- p.Gly180Ser Single submitter
- p.Gly27Ser Single submitter
- p.Gly97Arg Single submitter
- p.His101Tyr Single submitter ⚠
- p.His60Leu Single submitter ⚠
- p.Ile123Val Single submitter ⚠
- p.Ile188Thr Single submitter
- p.Ile52Met Single submitter
- p.Leu264Pro Single submitter ⚠
- p.Leu55Phe Single submitter
- p.Leu76Phe Single submitter
- p.Leu76Val Single submitter
- p.Lys59Arg Single submitter ⚠
- p.Lys73Ile Single submitter
- p.Lys9Thr Single submitter
- p.Phe192Leu Single submitter
- p.Pro200Leu Single submitter
- p.Pro200Ser Single submitter
- p.Pro259His Single submitter ⚠
- p.Pro61Thr Single submitter ⚠
- p.Pro99Leu Single submitter
- p.Ser206Leu Single submitter
- p.Ser321Thr Single submitter ⚠
- p.Thr135Met Single submitter
- p.Thr177Met Single submitter ⚠
- p.Trp108Arg Single submitter
- p.Val103Met Single submitter ⚠