CDKL2 — 76 ClinVar variants
All ClinVar germline CDKL2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 72 flagged for review →
1 Likely pathogenic · 5 Likely benign · 70 Uncertain significance
Full CDKL2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 72
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 vs ClinVar 1
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
CDKL2 p.Met215Leu
Likely pathogenic
Single submitter
CDKL2-related condition
Predictors lean, ClinVar uncertain 54
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CDKL2 p.Ala148Gly Uncertain significance Single submitter
- CDKL2 p.Ala153Thr Uncertain significance Single submitter
- CDKL2 p.Ala279Asp Uncertain significance Single submitter
- CDKL2 p.Ala423Ser Uncertain significance Single submitter
- CDKL2 p.Arg149Gln Uncertain significance Single submitter
- CDKL2 p.Arg168Thr Uncertain significance Single submitter
- CDKL2 p.Arg406Gly Uncertain significance Single submitter
- CDKL2 p.Arg50Gln Uncertain significance Single submitter
- CDKL2 p.Asn220Ser Uncertain significance Single submitter
- CDKL2 p.Asn310Lys Uncertain significance Single submitter
- CDKL2 p.Asn343Ser Uncertain significance Single submitter
- CDKL2 p.Asn386Ser Uncertain significance Single submitter
- CDKL2 p.Asn418Lys Uncertain significance Single submitter
- CDKL2 p.Asn418Ser Uncertain significance Single submitter
- CDKL2 p.Asp207Asn Uncertain significance Single submitter
- CDKL2 p.Asp327Val Uncertain significance Single submitter
- CDKL2 p.Asp403His Uncertain significance Single submitter
- CDKL2 p.Gln226Pro Uncertain significance Single submitter
- CDKL2 p.Glu258Lys Uncertain significance Single submitter
- CDKL2 p.Glu367Gly Uncertain significance Single submitter
- CDKL2 p.Gly358Ala Uncertain significance Single submitter
- CDKL2 p.Gly431Val Uncertain significance Single submitter
- CDKL2 p.His124Arg Uncertain significance Single submitter
- CDKL2 p.His124Asp Uncertain significance Single submitter
- CDKL2 p.His269Arg Uncertain significance Single submitter
- CDKL2 p.His283Arg Uncertain significance Single submitter
- CDKL2 p.His283Gln Uncertain significance Single submitter
- CDKL2 p.His570Arg Uncertain significance Single submitter
- CDKL2 p.Ile132Thr Uncertain significance Single submitter
- CDKL2 p.Ile464Thr Uncertain significance Single submitter
- CDKL2 p.Leu282Pro Uncertain significance Single submitter
- CDKL2 p.Leu58Phe Uncertain significance Single submitter
- CDKL2 p.Leu66Phe Uncertain significance Single submitter
- CDKL2 p.Leu98Arg Uncertain significance Single submitter
- CDKL2 p.Lys455Ile Uncertain significance Single submitter
- CDKL2 p.Lys71Arg Uncertain significance Single submitter
- CDKL2 p.Lys72Arg Uncertain significance Single submitter
- CDKL2 p.Met195Leu Uncertain significance Single submitter
- CDKL2 p.Pro413His Uncertain significance Single submitter
- CDKL2 p.Pro456Gln Uncertain significance Single submitter
- CDKL2 p.Pro461Ser Uncertain significance Single submitter
- CDKL2 p.Ser381Thr Uncertain significance Single submitter
- CDKL2 p.Thr342Asn Uncertain significance Single submitter
- CDKL2 p.Thr392Ala Uncertain significance Single submitter
- CDKL2 p.Thr432Pro Uncertain significance Single submitter
- CDKL2 p.Thr86Arg Uncertain significance Single submitter
- CDKL2 p.Tyr351Phe Uncertain significance Single submitter
- CDKL2 p.Val10Ala Uncertain significance Single submitter
- CDKL2 p.Val10Phe Uncertain significance Single submitter
- CDKL2 p.Val18Met Uncertain significance Single submitter
- CDKL2 p.Val238Ile Uncertain significance Single submitter
- CDKL2 p.Val331Ala Uncertain significance Single submitter
- CDKL2 p.Val469Met Uncertain significance Single submitter
- CDKL2 p.Val64Leu Uncertain significance Single submitter
Predictors split 17
The independent predictors disagree with each other — read with care.
- CDKL2 p.Arg252Cys Uncertain significance Single submitter
-
CDKL2 p.Arg252Gly
Uncertain significance
Single submitter
CDKL2-related disorder
- CDKL2 p.Asn121Asp Uncertain significance Single submitter
- CDKL2 p.Asn6Asp Uncertain significance Single submitter
- CDKL2 p.Glu227Lys Uncertain significance Single submitter
- CDKL2 p.Ile188Met Uncertain significance Single submitter
- CDKL2 p.Ile270Thr Uncertain significance Single submitter
- CDKL2 p.Ile47Val Uncertain significance Single submitter
- CDKL2 p.Leu172Ile Uncertain significance Single submitter
- CDKL2 p.Leu268Phe Uncertain significance Single submitter
- CDKL2 p.Met49Val Uncertain significance Single submitter
- CDKL2 p.Thr26Pro Uncertain significance Single submitter
- CDKL2 p.Val103Ile Uncertain significance Single submitter
- CDKL2 p.Val260Leu Uncertain significance Single submitter
- CDKL2 p.Val304Ala Uncertain significance Single submitter
- CDKL2 p.Val402Met Uncertain significance Single submitter
- CDKL2 p.Val410Met Likely benign Single submitter
All CDKL2 variants
Likely pathogenic 1
- p.Met215Leu Single submitter CDKL2-related condition ⚠
Likely benign 5
- p.Ile435Leu Single submitter
- p.Ile437Val Single submitter
- p.Met216Thr Single submitter
- p.Pro456Leu Single submitter
- p.Val410Met Single submitter ⚠
Uncertain significance 70
- p.Ala148Gly Single submitter ⚠
- p.Ala153Thr Single submitter ⚠
- p.Ala279Asp Single submitter ⚠
- p.Ala423Ser Single submitter ⚠
- p.Arg149Gln Single submitter ⚠
- p.Arg168Thr Single submitter ⚠
- p.Arg252Cys Single submitter ⚠
- p.Arg252Gly Single submitter CDKL2-related disorder ⚠
- p.Arg406Gly Single submitter ⚠
- p.Arg50Gln Single submitter ⚠
- p.Asn121Asp Single submitter ⚠
- p.Asn220Ser Single submitter ⚠
- p.Asn310Lys Single submitter ⚠
- p.Asn343Ser Single submitter ⚠
- p.Asn386Ser Single submitter ⚠
- p.Asn418Lys Single submitter ⚠
- p.Asn418Ser Single submitter ⚠
- p.Asn6Asp Single submitter ⚠
- p.Asp207Asn Single submitter ⚠
- p.Asp327Val Single submitter ⚠
- p.Asp403His Single submitter ⚠
- p.Gln226Pro Single submitter ⚠
- p.Glu227Lys Single submitter ⚠
- p.Glu258Lys Single submitter ⚠
- p.Glu367Gly Single submitter ⚠
- p.Gly358Ala Single submitter ⚠
- p.Gly431Val Single submitter ⚠
- p.His124Arg Single submitter ⚠
- p.His124Asp Single submitter ⚠
- p.His269Arg Single submitter ⚠
- p.His283Arg Single submitter ⚠
- p.His283Gln Single submitter ⚠
- p.His570Arg Single submitter ⚠
- p.Ile132Thr Single submitter ⚠
- p.Ile188Met Single submitter ⚠
- p.Ile270Thr Single submitter ⚠
- p.Ile464Thr Single submitter ⚠
- p.Ile47Val Single submitter ⚠
- p.Leu172Ile Single submitter ⚠
- p.Leu268Phe Single submitter ⚠
- p.Leu282Pro Single submitter ⚠
- p.Leu58Phe Single submitter ⚠
- p.Leu66Phe Single submitter ⚠
- p.Leu98Arg Single submitter ⚠
- p.Lys455Ile Single submitter ⚠
- p.Lys71Arg Single submitter ⚠
- p.Lys72Arg Single submitter ⚠
- p.Met195Leu Single submitter ⚠
- p.Met49Val Single submitter ⚠
- p.Pro413His Single submitter ⚠
- p.Pro456Gln Single submitter ⚠
- p.Pro461Ser Single submitter ⚠
- p.Ser381Thr Single submitter ⚠
- p.Thr26Pro Single submitter ⚠
- p.Thr342Asn Single submitter ⚠
- p.Thr392Ala Single submitter ⚠
- p.Thr432Pro Single submitter ⚠
- p.Thr86Arg Single submitter ⚠
- p.Tyr351Phe Single submitter ⚠
- p.Val103Ile Single submitter ⚠
- p.Val10Ala Single submitter ⚠
- p.Val10Phe Single submitter ⚠
- p.Val18Met Single submitter ⚠
- p.Val238Ile Single submitter ⚠
- p.Val260Leu Single submitter ⚠
- p.Val304Ala Single submitter ⚠
- p.Val331Ala Single submitter ⚠
- p.Val402Met Single submitter ⚠
- p.Val469Met Single submitter ⚠
- p.Val64Leu Single submitter ⚠