CTSV — 46 ClinVar variants
All ClinVar germline CTSV variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 43 flagged for review →
1 Benign · 3 Likely benign · 42 Uncertain significance
Full CTSV gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 43
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 19
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CTSV p.Ala186Asp Uncertain significance Single submitter
- CTSV p.Ala79Val Uncertain significance Single submitter
- CTSV p.Arg101Gly Uncertain significance Single submitter
- CTSV p.Asn221Asp Uncertain significance Single submitter
- CTSV p.Cys138Ser Uncertain significance Single submitter
- CTSV p.Cys323Phe Uncertain significance Single submitter
- CTSV p.Gln164Arg Uncertain significance Single submitter
- CTSV p.Gln176Arg Uncertain significance Single submitter
- CTSV p.Glu148Ala Uncertain significance Single submitter
- CTSV p.Glu200Ala Uncertain significance Single submitter
- CTSV p.Gly103Ala Uncertain significance Single submitter
- CTSV p.Gly145Arg Uncertain significance Single submitter
- CTSV p.Gly177Asp Uncertain significance Single submitter
- CTSV p.Gly283Ala Uncertain significance Single submitter
- CTSV p.His62Asn Uncertain significance Single submitter
- CTSV p.Lys273Glu Uncertain significance Single submitter
- CTSV p.Phe257Leu Uncertain significance Single submitter
- CTSV p.Trp303Ser Uncertain significance Single submitter
- CTSV p.Trp47Arg Uncertain significance Single submitter
Predictors split 24
The independent predictors disagree with each other — read with care.
- CTSV p.Ala15Asp Uncertain significance Single submitter
- CTSV p.Ala186Thr Uncertain significance Single submitter
- CTSV p.Ala241Ser Uncertain significance Single submitter
- CTSV p.Ala241Thr Uncertain significance Single submitter
- CTSV p.Arg107His Uncertain significance Single submitter
- CTSV p.Arg107Ser Uncertain significance Single submitter
- CTSV p.Arg153Trp Uncertain significance Single submitter
- CTSV p.Arg171Cys Uncertain significance Single submitter
- CTSV p.Arg171His Likely benign Single submitter
- CTSV p.Arg185Gly Uncertain significance Single submitter
- CTSV p.Asn221Ile Uncertain significance Single submitter
- CTSV p.Asn43Ile Uncertain significance Single submitter
- CTSV p.Asp222Val Uncertain significance Single submitter
- CTSV p.Glu192Lys Uncertain significance Single submitter
- CTSV p.Glu44Lys Uncertain significance Single submitter
- CTSV p.Gly285Ser Uncertain significance Single submitter
- CTSV p.His254Arg Uncertain significance Single submitter
- CTSV p.Lys191Thr Uncertain significance Single submitter
- CTSV p.Met83Val Uncertain significance Single submitter
- CTSV p.Phe152Leu Uncertain significance Single submitter
- CTSV p.Pro109Leu Uncertain significance Single submitter
- CTSV p.Pro230Thr Uncertain significance Single submitter
- CTSV p.Ser201Ala Uncertain significance Single submitter
- CTSV p.Val240Ala Uncertain significance Single submitter
All CTSV variants
Benign 1
- p.Asn179= Multiple submitters
Likely benign 3
- p.Arg171His Single submitter ⚠
- p.Asn320Asp Single submitter
- p.Ile210Thr Single submitter
Uncertain significance 42
- p.Ala15Asp Single submitter ⚠
- p.Ala186Asp Single submitter ⚠
- p.Ala186Thr Single submitter ⚠
- p.Ala241Ser Single submitter ⚠
- p.Ala241Thr Single submitter ⚠
- p.Ala79Val Single submitter ⚠
- p.Arg101Gly Single submitter ⚠
- p.Arg107His Single submitter ⚠
- p.Arg107Ser Single submitter ⚠
- p.Arg153Trp Single submitter ⚠
- p.Arg171Cys Single submitter ⚠
- p.Arg185Gly Single submitter ⚠
- p.Asn221Asp Single submitter ⚠
- p.Asn221Ile Single submitter ⚠
- p.Asn43Ile Single submitter ⚠
- p.Asp222Val Single submitter ⚠
- p.Cys138Ser Single submitter ⚠
- p.Cys323Phe Single submitter ⚠
- p.Gln164Arg Single submitter ⚠
- p.Gln176Arg Single submitter ⚠
- p.Glu148Ala Single submitter ⚠
- p.Glu192Lys Single submitter ⚠
- p.Glu200Ala Single submitter ⚠
- p.Glu44Lys Single submitter ⚠
- p.Gly103Ala Single submitter ⚠
- p.Gly145Arg Single submitter ⚠
- p.Gly177Asp Single submitter ⚠
- p.Gly283Ala Single submitter ⚠
- p.Gly285Ser Single submitter ⚠
- p.His254Arg Single submitter ⚠
- p.His62Asn Single submitter ⚠
- p.Lys191Thr Single submitter ⚠
- p.Lys273Glu Single submitter ⚠
- p.Met83Val Single submitter ⚠
- p.Phe152Leu Single submitter ⚠
- p.Phe257Leu Single submitter ⚠
- p.Pro109Leu Single submitter ⚠
- p.Pro230Thr Single submitter ⚠
- p.Ser201Ala Single submitter ⚠
- p.Trp303Ser Single submitter ⚠
- p.Trp47Arg Single submitter ⚠
- p.Val240Ala Single submitter ⚠