CSNK1E — 36 ClinVar variants
All ClinVar germline CSNK1E variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 31 flagged for review →
1 Pathogenic · 3 Benign · 32 Uncertain significance
Full CSNK1E gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 31
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 27
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CSNK1E p.Ala338Thr Uncertain significance Single submitter
- CSNK1E p.Ala349Ser Uncertain significance Single submitter
- CSNK1E p.Ala384Val Uncertain significance Single submitter
- CSNK1E p.Arg13Trp Uncertain significance Single submitter
-
CSNK1E p.Arg178Cys
Uncertain significance
Single submitter
Delayed speech and language development
- CSNK1E p.Arg193Gln Uncertain significance Single submitter
- CSNK1E p.Arg321Gln Uncertain significance Single submitter
- CSNK1E p.Arg326Gln Uncertain significance Single submitter
- CSNK1E p.Arg342His Uncertain significance Single submitter
- CSNK1E p.Arg355His Uncertain significance Single submitter
- CSNK1E p.Arg372Gln Uncertain significance Single submitter
- CSNK1E p.Arg396Trp Uncertain significance Single submitter
- CSNK1E p.Asn28Ser Uncertain significance Single submitter
- CSNK1E p.Asp305Gly Uncertain significance Single submitter
- CSNK1E p.Asp371Asn Uncertain significance Single submitter
- CSNK1E p.Cys96Phe Uncertain significance Single submitter
- CSNK1E p.Glu346Lys Uncertain significance Single submitter
- CSNK1E p.Gly32Asp Uncertain significance Single submitter
- CSNK1E p.Ile402Met Uncertain significance Single submitter
- CSNK1E p.Phe124Cys Uncertain significance Single submitter
- CSNK1E p.Pro358Leu Uncertain significance Single submitter
- CSNK1E p.Pro364Leu Uncertain significance Single submitter
- CSNK1E p.Ser343Gly Uncertain significance Single submitter
- CSNK1E p.Thr351Met Uncertain significance Single submitter
- CSNK1E p.Val129Ile Uncertain significance Single submitter
- CSNK1E p.Val348Met Uncertain significance Single submitter
- CSNK1E p.Val388Ile Uncertain significance Single submitter
Predictors split 4
The independent predictors disagree with each other — read with care.
All CSNK1E variants
Pathogenic 1
- c.885+1G>A No assertion criteria developmental and epileptic encephalopathy, 1
Benign 3
- p.Pro131= Multiple submitters
- c.1079-8C>A Single submitter
- c.336+10C>T Single submitter
Uncertain significance 32
- c.76+1del Single submitter
- p.Ala338Thr Single submitter ⚠
- p.Ala349Ser Single submitter ⚠
- p.Ala384Val Single submitter ⚠
- p.Arg13Trp Single submitter ⚠
- p.Arg178Cys Single submitter Delayed speech and language development ⚠
- p.Arg193Gln Single submitter ⚠
- p.Arg321Gln Single submitter ⚠
- p.Arg321Trp Single submitter ⚠
- p.Arg326Gln Single submitter ⚠
- p.Arg342His Single submitter ⚠
- p.Arg355His Single submitter ⚠
- p.Arg372Gln Single submitter ⚠
- p.Arg396Trp Single submitter ⚠
- p.Asn207Ser Single submitter ⚠
- p.Asn28Ser Single submitter ⚠
- p.Asp305Gly Single submitter ⚠
- p.Asp371Asn Single submitter ⚠
- p.Cys96Phe Single submitter ⚠
- p.Glu346Lys Single submitter ⚠
- p.Gly243Asp Single submitter ⚠
- p.Gly32Asp Single submitter ⚠
- p.Ile402Met Single submitter ⚠
- p.Phe124Cys Single submitter ⚠
- p.Pro358Leu Single submitter ⚠
- p.Pro364Leu Single submitter ⚠
- p.Ser343Gly Single submitter ⚠
- p.Ser390Phe Single submitter ⚠
- p.Thr351Met Single submitter ⚠
- p.Val129Ile Single submitter ⚠
- p.Val348Met Single submitter ⚠
- p.Val388Ile Single submitter ⚠