CSNK1D — 41 ClinVar variants
All ClinVar germline CSNK1D variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 29 flagged for review →
2 Pathogenic · 2 Benign · 1 Benign/Likely benign · 9 Likely benign · 27 Uncertain significance
Full CSNK1D gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 29
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 17
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CSNK1D p.Ala30Val Uncertain significance Single submitter
- CSNK1D p.Arg314Gln Uncertain significance Single submitter
- CSNK1D p.Arg365Lys Uncertain significance Single submitter
- CSNK1D p.Gln190Arg Uncertain significance Single submitter
- CSNK1D p.Glu312Gly Uncertain significance Single submitter
- CSNK1D p.His278Tyr Uncertain significance Single submitter
- CSNK1D p.Leu258Ser Uncertain significance Single submitter
- CSNK1D p.Leu85Pro Uncertain significance Single submitter
- CSNK1D p.Lys232Asn Uncertain significance Single submitter
- CSNK1D p.Met395Val Uncertain significance Single submitter
- CSNK1D p.Pro245Ala Uncertain significance Single submitter
- CSNK1D p.Pro342Ala Uncertain significance Single submitter
- CSNK1D p.Pro348Arg Uncertain significance Single submitter
- CSNK1D p.Thr176Met Uncertain significance Single submitter
- CSNK1D p.Tyr268Asn Uncertain significance Single submitter
- CSNK1D p.Val360Ile Uncertain significance Single submitter
- CSNK1D p.Val379Ile Uncertain significance Single submitter
Predictors split 12
The independent predictors disagree with each other — read with care.
- CSNK1D p.Ala304Thr Likely benign Single submitter
- CSNK1D p.Arg306Trp Uncertain significance Single submitter
- CSNK1D p.Arg311Gln Uncertain significance Single submitter
- CSNK1D p.Arg324Cys Uncertain significance Single submitter
- CSNK1D p.Arg333His Uncertain significance Single submitter
- CSNK1D p.Arg389Gln Uncertain significance Single submitter
- CSNK1D p.Asp302Asn Uncertain significance Single submitter
- CSNK1D p.Pro236Ala Uncertain significance Single submitter
- CSNK1D p.Thr337Met Uncertain significance Single submitter
- CSNK1D p.Thr352Met Uncertain significance Single submitter
- CSNK1D p.Val79Ile Uncertain significance Single submitter
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CSNK1D p.Thr44Ala
Pathogenic
No assertion criteria
advanced sleep phase syndrome 2
All CSNK1D variants
Pathogenic 2
- p.His46Arg No assertion criteria advanced sleep phase syndrome 2
- p.Thr44Ala No assertion criteria advanced sleep phase syndrome 2 ⚠
Benign/Likely benign 1
- p.Cys71= Multiple submitters
Likely benign 9
- p.Ala304Thr Single submitter ⚠
- p.Asn78= Single submitter
- p.Asp385= Single submitter
- c.1198-7C>T No assertion criteria CSNK1D-related disorder
- p.Arg417Cys No assertion criteria CSNK1D-related disorder
- p.Gly332= No assertion criteria CSNK1D-related disorder
- p.Leu276= No assertion criteria CSNK1D-related disorder
- p.Phe288= No assertion criteria CSNK1D-related disorder
- p.Ser406= No assertion criteria CSNK1D-related disorder
Uncertain significance 27
- p.Ala30Val Single submitter ⚠
- p.Arg306Trp Single submitter ⚠
- p.Arg311Gln Single submitter ⚠
- p.Arg314Gln Single submitter ⚠
- p.Arg324Cys Single submitter ⚠
- p.Arg333His Single submitter ⚠
- p.Arg365Lys Single submitter ⚠
- p.Arg389Gln Single submitter ⚠
- p.Asp302Asn Single submitter ⚠
- p.Gln190Arg Single submitter ⚠
- p.Glu312Gly Single submitter ⚠
- p.His278Tyr Single submitter ⚠
- p.Leu258Ser Single submitter ⚠
- p.Leu85Pro Single submitter ⚠
- p.Lys232Asn Single submitter ⚠
- p.Met395Val Single submitter ⚠
- p.Pro236Ala Single submitter ⚠
- p.Pro245Ala Single submitter ⚠
- p.Pro342Ala Single submitter ⚠
- p.Pro348Arg Single submitter ⚠
- p.Thr176Met Single submitter ⚠
- p.Thr337Met Single submitter ⚠
- p.Thr352Met Single submitter ⚠
- p.Tyr268Asn Single submitter ⚠
- p.Val360Ile Single submitter ⚠
- p.Val379Ile Single submitter ⚠
- p.Val79Ile Single submitter ⚠