CSNK2B — 181 ClinVar variants
All ClinVar germline CSNK2B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 45 flagged for review →
54 Pathogenic · 16 Pathogenic/Likely pathogenic · 32 Likely pathogenic · 7 Conflicting · 8 Benign · 9 Likely benign · 55 Uncertain significance
Full CSNK2B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 45
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 agree, ClinVar conflicts 7
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
CSNK2B p.Arg86Cys
Conflicting
Single submitter
Inborn genetic diseases
-
CSNK2B p.Arg86His
Conflicting
Single submitter
Poirier-Bienvenu neurodevelopmental syndrome
-
CSNK2B p.Cys109Arg
Conflicting
Single submitter
Poirier-Bienvenu neurodevelopmental syndrome
-
CSNK2B p.Glu77Lys
Conflicting
Single submitter
Poirier-Bienvenu neurodevelopmental syndrome
-
CSNK2B p.Gly156Asp
Conflicting
Single submitter
Poirier-Bienvenu neurodevelopmental syndrome
-
CSNK2B p.Phe190Ser
Conflicting
Single submitter
Poirier-Bienvenu neurodevelopmental syndrome
-
CSNK2B p.Pro164Arg
Conflicting
Single submitter
Poirier-Bienvenu neurodevelopmental syndrome
Predictors lean, ClinVar uncertain 32
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
CSNK2B p.Cys114Tyr
Uncertain significance
Multiple submitters
Poirier-Bienvenu neurodevelopmental syndrome
- CSNK2B p.Gly93Ser Uncertain significance Multiple submitters
- CSNK2B p.Ala49Asp Uncertain significance Single submitter
-
CSNK2B p.Arg17His
Uncertain significance
Single submitter
Poirier-Bienvenu neurodevelopmental syndrome
- CSNK2B p.Arg186Met Uncertain significance Single submitter
- CSNK2B p.Asn19Asp Uncertain significance Single submitter
-
CSNK2B p.Asp155His
Uncertain significance
Single submitter
Poirier-Bienvenu neurodevelopmental syndrome
- CSNK2B p.Cys114Arg Uncertain significance Single submitter
-
CSNK2B p.Cys23Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- CSNK2B p.Cys23Phe Uncertain significance Single submitter
- CSNK2B p.Gly189Ser Uncertain significance Single submitter
- CSNK2B p.Gly93Val Uncertain significance Single submitter
- CSNK2B p.His84Leu Uncertain significance Single submitter
- CSNK2B p.Ile122Thr Uncertain significance Single submitter
- CSNK2B p.Ile192Ser Uncertain significance Single submitter
-
CSNK2B p.Leu39Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- CSNK2B p.Leu79Pro Uncertain significance Single submitter
-
CSNK2B p.Met169Val
Uncertain significance
Single submitter
CSNK2B-related disorder
-
CSNK2B p.Met97Val
Uncertain significance
Single submitter
Poirier-Bienvenu neurodevelopmental syndrome
- CSNK2B p.Phe106Leu Uncertain significance Single submitter
-
CSNK2B p.Phe159Leu
Uncertain significance
Single submitter
Poirier-Bienvenu neurodevelopmental syndrome
- CSNK2B p.Phe159Val Uncertain significance Single submitter
- CSNK2B p.Phe21Leu Uncertain significance Single submitter
- CSNK2B p.Phe21Ser Uncertain significance Single submitter
-
CSNK2B p.Phe34Leu
Uncertain significance
Single submitter
Poirier-Bienvenu neurodevelopmental syndrome
-
CSNK2B p.Pro164Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- CSNK2B p.Pro172Arg Uncertain significance Single submitter
-
CSNK2B p.Pro194Leu
Uncertain significance
Single submitter
Poirier-Bienvenu neurodevelopmental syndrome
- CSNK2B p.Ser11Phe Uncertain significance Single submitter
- CSNK2B p.Thr37Pro Uncertain significance Single submitter
-
CSNK2B p.Tyr80Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- CSNK2B p.Val211Ile Uncertain significance Single submitter
Predictors split 6
The independent predictors disagree with each other — read with care.
- CSNK2B p.Gln68Leu Uncertain significance Single submitter
- CSNK2B p.Glu173Lys Uncertain significance Single submitter
- CSNK2B p.Ile30Leu Uncertain significance Single submitter
- CSNK2B p.Met141Thr Uncertain significance Single submitter
- CSNK2B p.Thr37Ala Uncertain significance Single submitter
-
CSNK2B p.Tyr108Cys
Uncertain significance
Single submitter
Poirier-Bienvenu neurodevelopmental syndrome
All CSNK2B variants
Pathogenic 54
- c.367+1G>C Multiple submitters
- c.558-2A>G Multiple submitters Poirier-Bienvenu neurodevelopmental syndrome
- p.Arg111Pro Multiple submitters Poirier-Bienvenu neurodevelopmental syndrome
- p.Arg47Ter Multiple submitters Poirier-Bienvenu neurodevelopmental syndrome
- p.Asp155fs Multiple submitters Inborn genetic diseases
- p.Asp32Tyr Multiple submitters Poirier-Bienvenu neurodevelopmental syndrome
- p.Gln102Ter Multiple submitters Poirier-Bienvenu neurodevelopmental syndrome
- p.Gln103Ter Multiple submitters Poirier-Bienvenu neurodevelopmental syndrome
- p.Gln31Ter Multiple submitters Poirier-Bienvenu neurodevelopmental syndrome
- p.Gln42Ter Multiple submitters Inborn genetic diseases
- p.Leu36Pro Multiple submitters Inborn genetic diseases
- p.Met166fs Multiple submitters neurodevelopmental disorder
- p.Tyr136Ter Multiple submitters Poirier-Bienvenu neurodevelopmental syndrome
- p.Tyr158Ter Multiple submitters Poirier-Bienvenu neurodevelopmental syndrome
- c.175+2T>G Single submitter Poirier-Bienvenu neurodevelopmental syndrome
- c.176-2A>C Single submitter
- c.292-1G>A Single submitter
- c.292-1G>C Single submitter Poirier-Bienvenu neurodevelopmental syndrome
- c.292-2del Single submitter Poirier-Bienvenu neurodevelopmental syndrome
- c.367+1G>A Single submitter Poirier-Bienvenu neurodevelopmental syndrome
- c.557+1G>A Single submitter
- p.Asp32Ala Single submitter Poirier-Bienvenu neurodevelopmental syndrome
- p.Asp64fs Single submitter
- p.Asp70fs Single submitter Poirier-Bienvenu neurodevelopmental syndrome
- p.Cys137Arg Single submitter
- p.Gln117Ter Single submitter Poirier-Bienvenu neurodevelopmental syndrome
- p.Gln48Ter Single submitter Poirier-Bienvenu neurodevelopmental syndrome
- p.Gln96Ter Single submitter
- p.Glu115fs Single submitter Poirier-Bienvenu neurodevelopmental syndrome
- p.Glu20Ter Single submitter Poirier-Bienvenu neurodevelopmental syndrome
- p.Glu5Ter Single submitter
- p.Gly104Ter Single submitter Poirier-Bienvenu neurodevelopmental syndrome
- p.Gly123Asp Single submitter
- p.Leu187Pro Single submitter Poirier-Bienvenu neurodevelopmental syndrome
- p.Leu36fs Single submitter
- p.Leu82Ter Single submitter Inborn genetic diseases
- p.Met132_Cys137delinsIleLeu Single submitter Poirier-Bienvenu neurodevelopmental syndrome
- p.Met1Arg Single submitter
- p.Phe106fs Single submitter Poirier-Bienvenu neurodevelopmental syndrome
- p.Phe21fs Single submitter
- p.Ser8_Trp9insTer Single submitter
- p.Thr161fs Single submitter Poirier-Bienvenu neurodevelopmental syndrome
- p.Thr90fs Single submitter CSNK2B-related intellectual disability with or without epilepsy
- p.Trp12Ter Single submitter Inborn genetic diseases
- p.Trp9Ter Single submitter
- p.Tyr158fs Single submitter Poirier-Bienvenu neurodevelopmental syndrome
- p.Val7fs Single submitter
- c.367+2T>C No assertion criteria Poirier-Bienvenu neurodevelopmental syndrome
- c.368-2A>G No assertion criteria Poirier-Bienvenu neurodevelopmental syndrome
- p.Asp32His No assertion criteria Intellectual disability-craniodigital syndrome
- p.Lys208fs No assertion criteria Poirier-Bienvenu neurodevelopmental syndrome
- p.Pro179fs No assertion criteria Poirier-Bienvenu neurodevelopmental syndrome
- p.Ser125Ter No assertion criteria Poirier-Bienvenu neurodevelopmental syndrome
- p.Thr37fs No assertion criteria Intellectual disability and seizures
Pathogenic/Likely pathogenic 16
- c.175+1G>A Multiple submitters CSNK2B-related disorder
- c.291+1G>A Multiple submitters Poirier-Bienvenu neurodevelopmental syndrome
- c.292-2A>C Multiple submitters Poirier-Bienvenu neurodevelopmental syndrome
- c.292-2A>G Multiple submitters Poirier-Bienvenu neurodevelopmental syndrome
- c.292-2A>T Multiple submitters
- c.557+1G>C Multiple submitters CSNK2B-Related Neurodevelopmental Disorder
- c.72+1G>A Multiple submitters Poirier-Bienvenu neurodevelopmental syndrome
- c.73-1G>A Multiple submitters Poirier-Bienvenu neurodevelopmental syndrome
- c.73-2A>G Multiple submitters Poirier-Bienvenu neurodevelopmental syndrome
- p.Asp32Asn Multiple submitters Inborn genetic diseases
- p.Cys137Tyr Multiple submitters neurodevelopmental disorder
- p.His165Arg Multiple submitters Poirier-Bienvenu neurodevelopmental syndrome
- p.Leu187Arg Multiple submitters CSNK2B-Related Neurodevelopmental Disorder
- p.Met1Ile Multiple submitters Poirier-Bienvenu neurodevelopmental syndrome
- p.Met1Val Multiple submitters Poirier-Bienvenu neurodevelopmental syndrome
- p.Ser149Ter Multiple submitters Inborn genetic diseases
Likely pathogenic 32
- p.Gln68Ter Multiple submitters Poirier-Bienvenu neurodevelopmental syndrome
- c.291+1G>T Single submitter Poirier-Bienvenu neurodevelopmental syndrome
- c.291+5G>A Single submitter Poirier-Bienvenu neurodevelopmental syndrome
- c.291+99C>G Single submitter Poirier-Bienvenu neurodevelopmental syndrome
- c.367+3_367+5delinsAAA Single submitter Inborn genetic diseases
- c.367+5del Single submitter intellectual disability
- c.558-1G>A Single submitter developmental and epileptic encephalopathy
- c.72+1G>T Single submitter autism spectrum disorder
- c.72+2T>G Single submitter autosomal dominant non-syndromic intellectual disability
- p.Ala196fs Single submitter Poirier-Bienvenu neurodevelopmental syndrome
- p.Arg111Leu Single submitter
- p.Arg178fs Single submitter Poirier-Bienvenu neurodevelopmental syndrome
- p.Arg186fs Single submitter Poirier-Bienvenu neurodevelopmental syndrome
- p.Arg86Pro Single submitter
- p.Asn35Ile Single submitter Poirier-Bienvenu neurodevelopmental syndrome
- p.Asn65fs Single submitter
- p.Asp26Gly Single submitter Inborn genetic diseases
- p.Cys109Tyr Single submitter
- p.Gln198fs Single submitter Poirier-Bienvenu neurodevelopmental syndrome
- p.Glu61Ter Single submitter
- p.Glu73Ter Single submitter
- p.Glu77Ter Single submitter
- p.Gly189Val Single submitter Inborn genetic diseases
- p.Leu39Arg Single submitter Poirier-Bienvenu neurodevelopmental syndrome
- p.Met1Lys Single submitter
- p.Met97Ile Single submitter Poirier-Bienvenu neurodevelopmental syndrome
- p.Phe183fs Single submitter Poirier-Bienvenu neurodevelopmental syndrome
- p.Phe34Cys Single submitter
- p.Phe34fs Single submitter Poirier-Bienvenu neurodevelopmental syndrome
- p.Tyr101Ter Single submitter Poirier-Bienvenu neurodevelopmental syndrome
- c.291+5G>C No assertion criteria Poirier-Bienvenu neurodevelopmental syndrome
- c.558-2A>C No assertion criteria CSNK2B-related disorder
Conflicting classifications of pathogenicity 7
- p.Arg86Cys Single submitter Inborn genetic diseases ⚠
- p.Arg86His Single submitter Poirier-Bienvenu neurodevelopmental syndrome ⚠
- p.Cys109Arg Single submitter Poirier-Bienvenu neurodevelopmental syndrome ⚠
- p.Glu77Lys Single submitter Poirier-Bienvenu neurodevelopmental syndrome ⚠
- p.Gly156Asp Single submitter Poirier-Bienvenu neurodevelopmental syndrome ⚠
- p.Phe190Ser Single submitter Poirier-Bienvenu neurodevelopmental syndrome ⚠
- p.Pro164Arg Single submitter Poirier-Bienvenu neurodevelopmental syndrome ⚠
Benign 8
- c.175+213_175+215del Single submitter
- c.175+217_175+220del Single submitter
- c.292-132A>G Single submitter
- c.72+78G>A Single submitter
- c.-11-28A>C Single submitter
- c.*104C>T Single submitter
- c.*31A>T Single submitter
- p.Leu36= Single submitter
Likely benign 9
- p.Gly156= Single submitter
- p.Pro172= Single submitter
- p.Pro194= Single submitter
- c.-1G>C No assertion criteria CSNK2B-related disorder
- p.His84= No assertion criteria CSNK2B-related disorder
- p.Leu98= No assertion criteria CSNK2B-related disorder
- p.Ser2= No assertion criteria CSNK2B-related disorder
- p.Thr154= No assertion criteria CSNK2B-related disorder
- p.Thr213= No assertion criteria CSNK2B-related disorder
Uncertain significance 55
- c.73-11T>A Multiple submitters Poirier-Bienvenu neurodevelopmental syndrome
- p.Cys114Tyr Multiple submitters Poirier-Bienvenu neurodevelopmental syndrome ⚠
- p.Gly93Ser Multiple submitters ⚠
- p.Phe22del Multiple submitters Poirier-Bienvenu neurodevelopmental syndrome
- c.291+2T>C Single submitter Inborn genetic diseases
- c.291+4A>C Single submitter
- c.291+4A>G Single submitter
- c.367+4A>G Single submitter
- c.367+5G>C Single submitter Poirier-Bienvenu neurodevelopmental syndrome
- c.367+6T>C Single submitter Poirier-Bienvenu neurodevelopmental syndrome
- c.368-3C>T Single submitter Inborn genetic diseases
- c.558-11C>T Single submitter
- c.558-8T>A Single submitter Inborn genetic diseases
- p.Ala49Asp Single submitter ⚠
- p.Arg17His Single submitter Poirier-Bienvenu neurodevelopmental syndrome ⚠
- p.Arg186Met Single submitter ⚠
- p.Asn19Asp Single submitter ⚠
- p.Asp155His Single submitter Poirier-Bienvenu neurodevelopmental syndrome ⚠
- p.Cys114Arg Single submitter ⚠
- p.Cys140Leu Single submitter
- p.Cys23Arg Single submitter Inborn genetic diseases ⚠
- p.Cys23Phe Single submitter ⚠
- p.Gln68Leu Single submitter ⚠
- p.Glu173Lys Single submitter ⚠
- p.Gly156Val Single submitter Poirier-Bienvenu neurodevelopmental syndrome
- p.Gly189Ser Single submitter ⚠
- p.Gly93Val Single submitter ⚠
- p.His193fs Single submitter
- p.His84Leu Single submitter ⚠
- p.Ile122Thr Single submitter ⚠
- p.Ile192Ser Single submitter ⚠
- p.Ile30Leu Single submitter ⚠
- p.Leu167= Single submitter Poirier-Bienvenu neurodevelopmental syndrome
- p.Leu39Pro Single submitter Inborn genetic diseases ⚠
- p.Leu79Pro Single submitter ⚠
- p.Met141Thr Single submitter ⚠
- p.Met169Val Single submitter CSNK2B-related disorder ⚠
- p.Met1Leu Single submitter intellectual disability
- p.Met97Val Single submitter Poirier-Bienvenu neurodevelopmental syndrome ⚠
- p.Phe106Leu Single submitter ⚠
- p.Phe159Leu Single submitter Poirier-Bienvenu neurodevelopmental syndrome ⚠
- p.Phe159Val Single submitter ⚠
- p.Phe21Leu Single submitter ⚠
- p.Phe21Ser Single submitter ⚠
- p.Phe34Leu Single submitter Poirier-Bienvenu neurodevelopmental syndrome ⚠
- p.Pro164Leu Single submitter Inborn genetic diseases ⚠
- p.Pro172Arg Single submitter ⚠
- p.Pro194Leu Single submitter Poirier-Bienvenu neurodevelopmental syndrome ⚠
- p.Ser11Phe Single submitter ⚠
- p.Ter216Ser Single submitter
- p.Thr37Ala Single submitter ⚠
- p.Thr37Pro Single submitter ⚠
- p.Tyr108Cys Single submitter Poirier-Bienvenu neurodevelopmental syndrome ⚠
- p.Tyr80Asn Single submitter Inborn genetic diseases ⚠
- p.Val211Ile Single submitter ⚠