CSNK1G1 — 55 ClinVar variants
All ClinVar germline CSNK1G1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 47 flagged for review →
1 Likely pathogenic · 1 Benign · 6 Likely benign · 47 Uncertain significance
Full CSNK1G1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 47
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 31
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CSNK1G1 p.Arg27Gln Uncertain significance Multiple submitters
- CSNK1G1 p.Ala115Thr Uncertain significance Single submitter
- CSNK1G1 p.Ala256Gly Uncertain significance Single submitter
- CSNK1G1 p.Arg134Gln Uncertain significance Single submitter
- CSNK1G1 p.Arg163Leu Uncertain significance Single submitter
- CSNK1G1 p.Arg174Pro Uncertain significance Single submitter
- CSNK1G1 p.Arg27Gly Uncertain significance Single submitter
- CSNK1G1 p.Arg367Gln Uncertain significance Single submitter
- CSNK1G1 p.Arg420His Uncertain significance Single submitter
- CSNK1G1 p.Arg80Cys Uncertain significance Single submitter
-
CSNK1G1 p.Asn368Ser
Uncertain significance
Single submitter
neurodevelopmental disorder
- CSNK1G1 p.Asn375Ser Uncertain significance Single submitter
- CSNK1G1 p.Asp196Gly Uncertain significance Single submitter
- CSNK1G1 p.Cys110Arg Uncertain significance Single submitter
- CSNK1G1 p.Gln147Arg Uncertain significance Single submitter
- CSNK1G1 p.Glu198Lys Uncertain significance Single submitter
- CSNK1G1 p.Gly345Val Uncertain significance Single submitter
- CSNK1G1 p.Gly47Val Uncertain significance Single submitter
- CSNK1G1 p.Ile172Thr Uncertain significance Single submitter
- CSNK1G1 p.Ile183Met Uncertain significance Single submitter
- CSNK1G1 p.Ile220Val Uncertain significance Single submitter
- CSNK1G1 p.Ile349Val Uncertain significance Single submitter
- CSNK1G1 p.Phe241Val Uncertain significance Single submitter
- CSNK1G1 p.Phe311Leu Uncertain significance Single submitter
- CSNK1G1 p.Pro123Arg Uncertain significance Single submitter
- CSNK1G1 p.Pro283Arg Uncertain significance Single submitter
- CSNK1G1 p.Thr15Pro Uncertain significance Single submitter
- CSNK1G1 p.Thr258Ile Uncertain significance Single submitter
- CSNK1G1 p.Tyr69Cys Uncertain significance Single submitter
- CSNK1G1 p.Val370Ala Uncertain significance Single submitter
- CSNK1G1 p.Arg230Trp Uncertain significance No assertion criteria
Predictors split 16
The independent predictors disagree with each other — read with care.
- CSNK1G1 p.Ala277Gly Uncertain significance Single submitter
- CSNK1G1 p.Arg291Gln Uncertain significance Single submitter
- CSNK1G1 p.Arg308Gln Uncertain significance Single submitter
- CSNK1G1 p.Arg359Trp Uncertain significance Single submitter
- CSNK1G1 p.Asn67Ser Uncertain significance Single submitter
- CSNK1G1 p.Glu397Lys Uncertain significance Single submitter
- CSNK1G1 p.Ile185Val Uncertain significance Single submitter
- CSNK1G1 p.Ile333Val Uncertain significance Single submitter
- CSNK1G1 p.Ile72Val Likely benign Single submitter
- CSNK1G1 p.Leu64Phe Uncertain significance Single submitter
- CSNK1G1 p.Lys48Arg Uncertain significance Single submitter
- CSNK1G1 p.Pro28Leu Uncertain significance Single submitter
- CSNK1G1 p.Thr417Ile Uncertain significance Single submitter
- CSNK1G1 p.Tyr105Cys Uncertain significance Single submitter
- CSNK1G1 p.Val329Ala Uncertain significance Single submitter
- CSNK1G1 p.Val370Met Uncertain significance Single submitter
All CSNK1G1 variants
Likely pathogenic 1
- p.Thr312fs Single submitter CSNK1G1-related developmental disorder with autism spectrum disorder
Benign 1
- c.*26C>T Single submitter
Likely benign 6
- c.1108-8012G>A Single submitter
- p.Asn389Ser Single submitter
- p.Ile72Val Single submitter ⚠
- p.Ser32= Single submitter
- p.Thr140= Single submitter
- p.Val329Ile Single submitter
Uncertain significance 47
- p.Arg27Gln Multiple submitters ⚠
- p.Ala115Thr Single submitter ⚠
- p.Ala256Gly Single submitter ⚠
- p.Ala277Gly Single submitter ⚠
- p.Arg134Gln Single submitter ⚠
- p.Arg163Leu Single submitter ⚠
- p.Arg174Pro Single submitter ⚠
- p.Arg174Ter Single submitter
- p.Arg27Gly Single submitter ⚠
- p.Arg291Gln Single submitter ⚠
- p.Arg308Gln Single submitter ⚠
- p.Arg359Trp Single submitter ⚠
- p.Arg367Gln Single submitter ⚠
- p.Arg420His Single submitter ⚠
- p.Arg80Cys Single submitter ⚠
- p.Asn368Ser Single submitter neurodevelopmental disorder ⚠
- p.Asn375Ser Single submitter ⚠
- p.Asn67Ser Single submitter ⚠
- p.Asp196Gly Single submitter ⚠
- p.Cys110Arg Single submitter ⚠
- p.Gln147Arg Single submitter ⚠
- p.Glu198Lys Single submitter ⚠
- p.Glu397Lys Single submitter ⚠
- p.Gly345Val Single submitter ⚠
- p.Gly47Val Single submitter ⚠
- p.Ile172Thr Single submitter ⚠
- p.Ile183Met Single submitter ⚠
- p.Ile185Val Single submitter ⚠
- p.Ile220Val Single submitter ⚠
- p.Ile333Val Single submitter ⚠
- p.Ile349Val Single submitter ⚠
- p.Leu64Phe Single submitter ⚠
- p.Lys48Arg Single submitter ⚠
- p.Phe241Val Single submitter ⚠
- p.Phe311Leu Single submitter ⚠
- p.Pro123Arg Single submitter ⚠
- p.Pro283Arg Single submitter ⚠
- p.Pro28Leu Single submitter ⚠
- p.Thr15Pro Single submitter ⚠
- p.Thr258Ile Single submitter ⚠
- p.Thr417Ile Single submitter ⚠
- p.Tyr105Cys Single submitter ⚠
- p.Tyr69Cys Single submitter ⚠
- p.Val329Ala Single submitter ⚠
- p.Val370Ala Single submitter ⚠
- p.Val370Met Single submitter ⚠
- p.Arg230Trp No assertion criteria ⚠