CTSZ — 51 ClinVar variants
All ClinVar germline CTSZ variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 46 flagged for review →
2 Benign · 1 Benign/Likely benign · 4 Likely benign · 44 Uncertain significance
Full CTSZ gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 46
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 24
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CTSZ p.Ala144Thr Uncertain significance Single submitter
- CTSZ p.Ala60Glu Uncertain significance Single submitter
- CTSZ p.Arg104Gln Uncertain significance Single submitter
- CTSZ p.Arg104Trp Uncertain significance Single submitter
- CTSZ p.Arg260Trp Uncertain significance Single submitter
- CTSZ p.Arg28Leu Uncertain significance Single submitter
- CTSZ p.Gln121Lys Uncertain significance Single submitter
- CTSZ p.Glu152Lys Uncertain significance Single submitter
- CTSZ p.Glu163Val Uncertain significance Single submitter
- CTSZ p.Glu232Lys Uncertain significance Single submitter
- CTSZ p.Glu269Lys Uncertain significance Single submitter
- CTSZ p.Gly134Ala Uncertain significance Single submitter
- CTSZ p.Gly134Glu Uncertain significance Single submitter
- CTSZ p.Gly24Ser Uncertain significance Single submitter
- CTSZ p.Gly264Asp Uncertain significance Single submitter
- CTSZ p.Gly30Arg Uncertain significance Single submitter
- CTSZ p.Gly41Arg Uncertain significance Single submitter
- CTSZ p.Gly46Glu Uncertain significance Single submitter
- CTSZ p.Gly90Arg Uncertain significance Single submitter
- CTSZ p.Pro150Ser Uncertain significance Single submitter
- CTSZ p.Thr236Ala Uncertain significance Single submitter
- CTSZ p.Tyr157Cys Uncertain significance Single submitter
- CTSZ p.Tyr288Cys Uncertain significance Single submitter
- CTSZ p.Val276Met Uncertain significance Single submitter
Predictors split 22
The independent predictors disagree with each other — read with care.
- CTSZ p.Gly191Arg Benign Multiple submitters
- CTSZ p.Thr226Ser Benign Multiple submitters
- CTSZ p.Ala18Ser Uncertain significance Single submitter
- CTSZ p.Ala18Val Uncertain significance Single submitter
- CTSZ p.Ala60Val Uncertain significance Single submitter
- CTSZ p.Arg35Trp Uncertain significance Single submitter
- CTSZ p.Arg47Leu Uncertain significance Single submitter
- CTSZ p.Arg52Trp Uncertain significance Single submitter
- CTSZ p.Asn70Ser Uncertain significance Single submitter
- CTSZ p.Glu269Asp Uncertain significance Single submitter
- CTSZ p.Gly194Ser Uncertain significance Single submitter
- CTSZ p.Gly227Arg Uncertain significance Single submitter
- CTSZ p.Gly249Ala Uncertain significance Single submitter
- CTSZ p.Gly283Ala Uncertain significance Single submitter
- CTSZ p.Ile85Leu Uncertain significance Single submitter
- CTSZ p.Lys281Glu Uncertain significance Single submitter
- CTSZ p.Pro59Ser Uncertain significance Single submitter
- CTSZ p.Thr297Ile Uncertain significance Single submitter
- CTSZ p.Tyr233His Uncertain significance Single submitter
- CTSZ p.Tyr280Cys Uncertain significance Single submitter
- CTSZ p.Val245Met Uncertain significance Single submitter
- CTSZ p.Val303Ile Uncertain significance Single submitter
All CTSZ variants
Benign 2
- p.Gly191Arg Multiple submitters ⚠
- p.Thr226Ser Multiple submitters ⚠
Benign/Likely benign 1
- p.Leu196Pro Multiple submitters
Likely benign 4
- p.Arg189= Single submitter
- p.Gln22Arg Single submitter
- p.Gln234His Single submitter
- p.Val243Ile Single submitter
Uncertain significance 44
- p.Ala144Thr Single submitter ⚠
- p.Ala18Ser Single submitter ⚠
- p.Ala18Val Single submitter ⚠
- p.Ala60Glu Single submitter ⚠
- p.Ala60Val Single submitter ⚠
- p.Arg104Gln Single submitter ⚠
- p.Arg104Trp Single submitter ⚠
- p.Arg260Trp Single submitter ⚠
- p.Arg28Leu Single submitter ⚠
- p.Arg35Trp Single submitter ⚠
- p.Arg47Leu Single submitter ⚠
- p.Arg52Trp Single submitter ⚠
- p.Asn70Ser Single submitter ⚠
- p.Gln121Lys Single submitter ⚠
- p.Glu152Lys Single submitter ⚠
- p.Glu163Val Single submitter ⚠
- p.Glu232Lys Single submitter ⚠
- p.Glu269Asp Single submitter ⚠
- p.Glu269Lys Single submitter ⚠
- p.Gly134Ala Single submitter ⚠
- p.Gly134Glu Single submitter ⚠
- p.Gly194Ser Single submitter ⚠
- p.Gly227Arg Single submitter ⚠
- p.Gly249Ala Single submitter ⚠
- p.Gly24Ser Single submitter ⚠
- p.Gly264Asp Single submitter ⚠
- p.Gly283Ala Single submitter ⚠
- p.Gly30Arg Single submitter ⚠
- p.Gly41Arg Single submitter ⚠
- p.Gly46Glu Single submitter ⚠
- p.Gly90Arg Single submitter ⚠
- p.Ile85Leu Single submitter ⚠
- p.Lys281Glu Single submitter ⚠
- p.Pro150Ser Single submitter ⚠
- p.Pro59Ser Single submitter ⚠
- p.Thr236Ala Single submitter ⚠
- p.Thr297Ile Single submitter ⚠
- p.Tyr157Cys Single submitter ⚠
- p.Tyr233His Single submitter ⚠
- p.Tyr280Cys Single submitter ⚠
- p.Tyr288Cys Single submitter ⚠
- p.Val245Met Single submitter ⚠
- p.Val276Met Single submitter ⚠
- p.Val303Ile Single submitter ⚠