CTSO — 45 ClinVar variants
All ClinVar germline CTSO variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 44 flagged for review →
1 Likely benign · 44 Uncertain significance
Full CTSO gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 44
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 25
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CTSO p.Ala41Val Uncertain significance Single submitter
- CTSO p.Ala43Val Uncertain significance Single submitter
- CTSO p.Ala97Thr Uncertain significance Single submitter
- CTSO p.Asn201Asp Uncertain significance Single submitter
- CTSO p.Asp246Val Uncertain significance Single submitter
- CTSO p.Cys163Arg Uncertain significance Single submitter
- CTSO p.Cys163Trp Uncertain significance Single submitter
- CTSO p.Cys170Phe Uncertain significance Single submitter
- CTSO p.Cys204Tyr Uncertain significance Single submitter
- CTSO p.Gln251Lys Uncertain significance Single submitter
- CTSO p.Glu38Gly Uncertain significance Single submitter
- CTSO p.Gly172Arg Uncertain significance Single submitter
- CTSO p.Gly173Val Uncertain significance Single submitter
- CTSO p.Gly19Ser Uncertain significance Single submitter
- CTSO p.Gly20Ser Uncertain significance Single submitter
- CTSO p.Leu272Pro Uncertain significance Single submitter
- CTSO p.Met101Val Uncertain significance Single submitter
- CTSO p.Pro31Arg Uncertain significance Single submitter
- CTSO p.Ser164Leu Uncertain significance Single submitter
- CTSO p.Ser164Pro Uncertain significance Single submitter
- CTSO p.Ser290Ala Uncertain significance Single submitter
- CTSO p.Thr175Ala Uncertain significance Single submitter
- CTSO p.Thr64Ala Uncertain significance Single submitter
- CTSO p.Tyr53His Uncertain significance Single submitter
- CTSO p.Val248Met Uncertain significance Single submitter
Predictors split 19
The independent predictors disagree with each other — read with care.
- CTSO p.Ala234Thr Uncertain significance Single submitter
- CTSO p.Ala247Gly Uncertain significance Single submitter
- CTSO p.Arg288Gln Uncertain significance Single submitter
- CTSO p.Arg288Trp Uncertain significance Single submitter
- CTSO p.Asn125Lys Uncertain significance Single submitter
- CTSO p.Asn308Ser Uncertain significance Single submitter
- CTSO p.Asp116Asn Uncertain significance Single submitter
- CTSO p.Asp229Asn Uncertain significance Single submitter
- CTSO p.His51Arg Uncertain significance Single submitter
- CTSO p.Ile216Val Uncertain significance Single submitter
- CTSO p.Ile319Thr Uncertain significance Single submitter
- CTSO p.Leu13Pro Uncertain significance Single submitter
- CTSO p.Pro109Leu Uncertain significance Single submitter
- CTSO p.Pro109Ser Uncertain significance Single submitter
- CTSO p.Tyr74Cys Uncertain significance Single submitter
- CTSO p.Val120Ala Uncertain significance Single submitter
- CTSO p.Val138Ala Uncertain significance Single submitter
- CTSO p.Val316Ile Uncertain significance Single submitter
- CTSO p.Val3Met Uncertain significance Single submitter
All CTSO variants
Likely benign 1
- p.Met128Thr Single submitter
Uncertain significance 44
- p.Ala234Thr Single submitter ⚠
- p.Ala247Gly Single submitter ⚠
- p.Ala41Val Single submitter ⚠
- p.Ala43Val Single submitter ⚠
- p.Ala97Thr Single submitter ⚠
- p.Arg288Gln Single submitter ⚠
- p.Arg288Trp Single submitter ⚠
- p.Asn125Lys Single submitter ⚠
- p.Asn201Asp Single submitter ⚠
- p.Asn308Ser Single submitter ⚠
- p.Asp116Asn Single submitter ⚠
- p.Asp229Asn Single submitter ⚠
- p.Asp246Val Single submitter ⚠
- p.Cys163Arg Single submitter ⚠
- p.Cys163Trp Single submitter ⚠
- p.Cys170Phe Single submitter ⚠
- p.Cys204Tyr Single submitter ⚠
- p.Gln251Lys Single submitter ⚠
- p.Glu38Gly Single submitter ⚠
- p.Gly172Arg Single submitter ⚠
- p.Gly173Val Single submitter ⚠
- p.Gly19Ser Single submitter ⚠
- p.Gly20Ser Single submitter ⚠
- p.His51Arg Single submitter ⚠
- p.Ile216Val Single submitter ⚠
- p.Ile319Thr Single submitter ⚠
- p.Leu13Pro Single submitter ⚠
- p.Leu272Pro Single submitter ⚠
- p.Met101Val Single submitter ⚠
- p.Pro109Leu Single submitter ⚠
- p.Pro109Ser Single submitter ⚠
- p.Pro31Arg Single submitter ⚠
- p.Ser164Leu Single submitter ⚠
- p.Ser164Pro Single submitter ⚠
- p.Ser290Ala Single submitter ⚠
- p.Thr175Ala Single submitter ⚠
- p.Thr64Ala Single submitter ⚠
- p.Tyr53His Single submitter ⚠
- p.Tyr74Cys Single submitter ⚠
- p.Val120Ala Single submitter ⚠
- p.Val138Ala Single submitter ⚠
- p.Val248Met Single submitter ⚠
- p.Val316Ile Single submitter ⚠
- p.Val3Met Single submitter ⚠