CS — 37 ClinVar variants
All ClinVar germline CS variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 34 flagged for review →
1 Conflicting · 2 Benign · 1 Likely benign · 33 Uncertain significance
Full CS gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 34
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.
- CS p.Ala8Ser Uncertain significance Single submitter
- CS p.Arg340Gln Uncertain significance Single submitter
- CS p.Arg440Gln Uncertain significance Single submitter
- CS p.Asn161Ser Uncertain significance Single submitter
- CS p.Asn176Ser Uncertain significance Single submitter
- CS p.Asn400Ser Uncertain significance Single submitter
- CS p.Gln379His Uncertain significance Single submitter
- CS p.Gln62Glu Uncertain significance Single submitter
- CS p.Glu117Gly Uncertain significance Single submitter
- CS p.Ile48Leu Uncertain significance Single submitter
- CS p.Met417Arg Uncertain significance Single submitter
- CS p.Met417Lys Uncertain significance Single submitter
- CS p.Met68Ile Uncertain significance Single submitter
- CS p.Met72Thr Uncertain significance Single submitter
- CS p.Phe374Ser Uncertain significance Single submitter
- CS p.Tyr185His Uncertain significance Single submitter
- CS p.Tyr80Cys Uncertain significance Single submitter
Predictors split 17
The independent predictors disagree with each other — read with care.
- CS p.Ala2Gly Uncertain significance Single submitter
- CS p.Arg183Gly Uncertain significance Single submitter
- CS p.Arg191Gln Uncertain significance Single submitter
- CS p.Arg218Gln Uncertain significance Single submitter
- CS p.Arg329Gln Uncertain significance Single submitter
- CS p.Arg92Cys Uncertain significance Single submitter
- CS p.Asn386Tyr Uncertain significance Single submitter
- CS p.His367Arg Uncertain significance Single submitter
- CS p.Ile41Val Uncertain significance Single submitter
- CS p.Leu115Val Uncertain significance Single submitter
- CS p.Lys14Glu Uncertain significance Single submitter
- CS p.Lys193Thr Uncertain significance Single submitter
- CS p.Lys382Glu Uncertain significance Single submitter
- CS p.Lys464Glu Uncertain significance Single submitter
- CS p.Met452Leu Uncertain significance Single submitter
- CS p.Ser324Leu Uncertain significance Single submitter
- CS p.Ser463Phe Conflicting Single submitter
All CS variants
Conflicting classifications of pathogenicity 1
- p.Ser463Phe Single submitter ⚠
Likely benign 1
- p.Thr58= Single submitter
Uncertain significance 33
- p.Ala2Gly Single submitter ⚠
- p.Ala8Ser Single submitter ⚠
- p.Arg183Gly Single submitter ⚠
- p.Arg191Gln Single submitter ⚠
- p.Arg218Gln Single submitter ⚠
- p.Arg329Gln Single submitter ⚠
- p.Arg340Gln Single submitter ⚠
- p.Arg440Gln Single submitter ⚠
- p.Arg92Cys Single submitter ⚠
- p.Asn161Ser Single submitter ⚠
- p.Asn176Ser Single submitter ⚠
- p.Asn386Tyr Single submitter ⚠
- p.Asn400Ser Single submitter ⚠
- p.Gln379His Single submitter ⚠
- p.Gln62Glu Single submitter ⚠
- p.Glu117Gly Single submitter ⚠
- p.His367Arg Single submitter ⚠
- p.Ile41Val Single submitter ⚠
- p.Ile48Leu Single submitter ⚠
- p.Leu115Val Single submitter ⚠
- p.Lys14Glu Single submitter ⚠
- p.Lys193Thr Single submitter ⚠
- p.Lys382Glu Single submitter ⚠
- p.Lys464Glu Single submitter ⚠
- p.Met417Arg Single submitter ⚠
- p.Met417Lys Single submitter ⚠
- p.Met452Leu Single submitter ⚠
- p.Met68Ile Single submitter ⚠
- p.Met72Thr Single submitter ⚠
- p.Phe374Ser Single submitter ⚠
- p.Ser324Leu Single submitter ⚠
- p.Tyr185His Single submitter ⚠
- p.Tyr80Cys Single submitter ⚠