CTSB — 167 ClinVar variants
All ClinVar germline CTSB variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 101 flagged for review →
5 Conflicting · 29 Benign · 1 Benign/Likely benign · 39 Likely benign · 93 Uncertain significance
Full CTSB gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 101
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 agree, ClinVar conflicts 3
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
Predictors lean, ClinVar uncertain 41
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CTSB p.Arg331Pro Uncertain significance Multiple submitters
- CTSB p.Lys220Glu Uncertain significance Multiple submitters
- CTSB p.Met73Thr Uncertain significance Multiple submitters
- CTSB p.Thr332Ala Uncertain significance Multiple submitters
- CTSB p.Ala113Thr Uncertain significance Single submitter
- CTSB p.Ala135Val Uncertain significance Single submitter
- CTSB p.Arg120Leu Uncertain significance Single submitter
- CTSB p.Arg281Cys Uncertain significance Single submitter
- CTSB p.Asn234His Uncertain significance Single submitter
- CTSB p.Asn234Thr Uncertain significance Single submitter
- CTSB p.Asn307Ser Uncertain significance Single submitter
- CTSB p.Asp203Glu Uncertain significance Single submitter
- CTSB p.Asp222Glu Uncertain significance Single submitter
- CTSB p.Cys146Arg Uncertain significance Single submitter
- CTSB p.Gln334Glu Uncertain significance Single submitter
- CTSB p.Gln42Leu Uncertain significance Single submitter
- CTSB p.Glu174Lys Uncertain significance Single submitter
- CTSB p.Gly247Ser Uncertain significance Single submitter
- CTSB p.Gly272Arg Uncertain significance Single submitter
- CTSB p.Gly284Ala Uncertain significance Single submitter
- CTSB p.Gly315Ala Uncertain significance Single submitter
- CTSB p.Ile280Met Uncertain significance Single submitter
- CTSB p.Ile339Val Uncertain significance Single submitter
- CTSB p.Lys220Asn Uncertain significance Single submitter
- CTSB p.Lys338Asn Uncertain significance Single submitter
- CTSB p.Met145Leu Uncertain significance Single submitter
- CTSB p.Met240Ile Uncertain significance Single submitter
- CTSB p.Phe74Ser Uncertain significance Single submitter
- CTSB p.Pro155Ser Uncertain significance Single submitter
- CTSB p.Pro181Leu Uncertain significance Single submitter
- CTSB p.Pro213Ser Uncertain significance Single submitter
- CTSB p.Pro21Thr Uncertain significance Single submitter
- CTSB p.Ser144Arg Uncertain significance Single submitter
- CTSB p.Thr140Lys Uncertain significance Single submitter
- CTSB p.Tyr256Cys Uncertain significance Single submitter
- CTSB p.Val13Ala Uncertain significance Single submitter
- CTSB p.Val191Ile Uncertain significance Single submitter
- CTSB p.Val232Ile Uncertain significance Single submitter
- CTSB p.Val249Leu Uncertain significance Single submitter
- CTSB p.Val249Met Uncertain significance Single submitter
- CTSB p.Val270Ile Uncertain significance Single submitter
Predictors split 57
The independent predictors disagree with each other — read with care.
- CTSB p.Asp333Asn Uncertain significance Multiple submitters
- CTSB p.Leu26Val Benign Multiple submitters
- CTSB p.Pro91Leu Benign Multiple submitters
- CTSB p.Pro94Leu Likely benign Multiple submitters
- CTSB p.Ala241Val Uncertain significance Single submitter
- CTSB p.Arg18Gln Uncertain significance Single submitter
- CTSB p.Arg195Gln Uncertain significance Single submitter
- CTSB p.Arg195Trp Uncertain significance Single submitter
- CTSB p.Arg331Cys Uncertain significance Single submitter
- CTSB p.Arg57Lys Likely benign Single submitter
- CTSB p.Arg87Gln Likely benign Single submitter
- CTSB p.Asn246His Uncertain significance Single submitter
- CTSB p.Asn289His Uncertain significance Single submitter
- CTSB p.Asp333Tyr Uncertain significance Single submitter
- CTSB p.Cys10Tyr Uncertain significance Single submitter
- CTSB p.Glu288Ala Uncertain significance Single submitter
- CTSB p.Gly290Ser Uncertain significance Single submitter
- CTSB p.His176Arg Uncertain significance Single submitter
- CTSB p.His318Gln Uncertain significance Single submitter
- CTSB p.Ile117Met Uncertain significance Single submitter
- CTSB p.Ile243Met Uncertain significance Single submitter
- CTSB p.Ile282Met Uncertain significance Single submitter
- CTSB p.Leu139Val Uncertain significance Single submitter
- CTSB p.Leu172Phe Uncertain significance Single submitter
- CTSB p.Leu261Phe Uncertain significance Single submitter
- CTSB p.Leu26Arg Uncertain significance Single submitter
- CTSB p.Leu26Met Uncertain significance Single submitter
- CTSB p.Leu30Val Conflicting Single submitter
- CTSB p.Lys237Glu Benign Single submitter
- CTSB p.Lys245Asn Likely benign Single submitter
- CTSB p.Lys245Glu Uncertain significance Single submitter
- CTSB p.Met274Lys Uncertain significance Single submitter
- CTSB p.Pro197Ala Uncertain significance Single submitter
- CTSB p.Pro213Thr Uncertain significance Single submitter
- CTSB p.Pro25Ser Uncertain significance Single submitter
- CTSB p.Pro292Arg Uncertain significance Single submitter
- CTSB p.Pro66Arg Uncertain significance Single submitter
- CTSB p.Pro66Ser Uncertain significance Single submitter
- CTSB p.Pro91Ser Uncertain significance Single submitter
- CTSB p.Pro94Ser Uncertain significance Single submitter
- CTSB p.Ser208Asn Uncertain significance Single submitter
- CTSB p.Ser208Gly Uncertain significance Single submitter
- CTSB p.Ser233Cys Uncertain significance Single submitter
- CTSB p.Ser254Cys Likely benign Single submitter
- CTSB p.Ser254Tyr Uncertain significance Single submitter
- CTSB p.Ser257Leu Uncertain significance Single submitter
- CTSB p.Ser257Trp Uncertain significance Single submitter
- CTSB p.Ser27Leu Uncertain significance Single submitter
- CTSB p.Ser323Ala Uncertain significance Single submitter
- CTSB p.Ser7Phe Uncertain significance Single submitter
- CTSB p.Thr125Asn Uncertain significance Single submitter
- CTSB p.Thr302Ser Uncertain significance Single submitter
- CTSB p.Tyr227Cys Likely benign Single submitter
- CTSB p.Tyr54Cys Uncertain significance Single submitter
- CTSB p.Val131Met Uncertain significance Single submitter
- CTSB p.Val177Ala Uncertain significance Single submitter
- CTSB p.Val296Ile Uncertain significance Single submitter
All CTSB variants
Conflicting classifications of pathogenicity 5
- c.127-11CT[2] Single submitter keratolytic winter erythema
- p.Arg20Thr Single submitter ⚠
- p.Glu76Lys Single submitter ⚠
- p.Leu30Val Single submitter ⚠
- p.Met274Leu Single submitter ⚠
Benign 29
- c.327+20C>T Multiple submitters
- c.446+9G>C Multiple submitters
- c.447-16G>C Multiple submitters
- c.533-11C>G Multiple submitters keratolytic winter erythema
- c.922+14C>G Multiple submitters
- p.Asn192= Multiple submitters
- p.Asp317Asn Multiple submitters
- p.Gly147= Multiple submitters
- p.Leu26Pro Multiple submitters
- p.Leu26Val Multiple submitters ⚠
- p.Leu283= Multiple submitters
- p.Pro91Leu Multiple submitters ⚠
- p.Ser194= Multiple submitters
- p.Ser233= Multiple submitters
- p.Ser235Asn Multiple submitters
- p.Ser53Gly Multiple submitters keratolytic winter erythema
- p.Thr140= Multiple submitters
- p.Thr75Ala Multiple submitters
- c.127-9C>G Single submitter
- c.327+10T>A Single submitter
- c.328-10G>A Single submitter
- c.328-10G>T Single submitter
- c.328-18T>C Single submitter
- c.676+14_676+20del Single submitter
- c.922+13C>T Single submitter
- p.Gln334Pro Single submitter
- p.Ile321= Single submitter
- p.Lys237Glu Single submitter ⚠
- p.Ser229= Single submitter
Benign/Likely benign 1
- p.Tyr256= Multiple submitters
Likely benign 39
- p.Ala6= Multiple submitters
- p.Asn246Thr Multiple submitters
- p.Asp137= Multiple submitters
- p.Pro94Leu Multiple submitters ⚠
- c.126+18G>T Single submitter
- c.126+8G>T Single submitter
- c.446+11C>G Single submitter
- c.447-14G>T Single submitter
- c.447-285C>T Single submitter
- c.447-356G>T Single submitter
- c.447-3C>T Single submitter
- c.532+16T>C Single submitter
- c.533-10G>A Single submitter
- c.794-16G>A Single submitter
- c.922+12C>T Single submitter
- c.922+16C>G Single submitter
- c.923-9T>A Single submitter
- p.Ala135= Single submitter
- p.Ala15= Single submitter
- p.Ala158= Single submitter
- p.Ala241= Single submitter
- p.Ala43= Single submitter
- p.Arg57Lys Single submitter ⚠
- p.Arg87Gln Single submitter ⚠
- p.Asp148= Single submitter
- p.Cys122= Single submitter
- p.Lys245Asn Single submitter ⚠
- p.Met52Val Single submitter
- p.Phe259= Single submitter
- p.Pro181= Single submitter
- p.Pro217= Single submitter
- p.Pro69= Single submitter
- p.Ser130= Single submitter
- p.Ser254Cys Single submitter ⚠
- p.Ser257= Single submitter
- p.Thr271Ser Single submitter
- p.Thr332= Single submitter
- p.Tyr227Cys Single submitter ⚠
- p.Glu157= No assertion criteria CTSB-related disorder
Uncertain significance 93
- p.Arg331Pro Multiple submitters ⚠
- p.Asp333Asn Multiple submitters ⚠
- p.Lys220Glu Multiple submitters ⚠
- p.Met73Thr Multiple submitters ⚠
- p.Thr332Ala Multiple submitters ⚠
- c.126+5G>A Single submitter
- c.327+4A>T Single submitter
- c.327+6G>A Single submitter
- p.Ala113Thr Single submitter ⚠
- p.Ala135Val Single submitter ⚠
- p.Ala241Val Single submitter ⚠
- p.Arg120Leu Single submitter ⚠
- p.Arg18Gln Single submitter ⚠
- p.Arg195Gln Single submitter ⚠
- p.Arg195Trp Single submitter ⚠
- p.Arg281Cys Single submitter ⚠
- p.Arg331Cys Single submitter ⚠
- p.Asn234His Single submitter ⚠
- p.Asn234Thr Single submitter ⚠
- p.Asn246His Single submitter ⚠
- p.Asn289His Single submitter ⚠
- p.Asn307Ser Single submitter ⚠
- p.Asp203Glu Single submitter ⚠
- p.Asp222Glu Single submitter ⚠
- p.Asp333Tyr Single submitter ⚠
- p.Cys10Tyr Single submitter ⚠
- p.Cys146Arg Single submitter ⚠
- p.Gln334Glu Single submitter ⚠
- p.Gln42Leu Single submitter ⚠
- p.Glu174Lys Single submitter ⚠
- p.Glu288Ala Single submitter ⚠
- p.Gly247Ser Single submitter ⚠
- p.Gly272Arg Single submitter ⚠
- p.Gly284Ala Single submitter ⚠
- p.Gly290Ser Single submitter ⚠
- p.Gly315Ala Single submitter ⚠
- p.His176Arg Single submitter ⚠
- p.His318Gln Single submitter ⚠
- p.Ile117Met Single submitter ⚠
- p.Ile243Met Single submitter ⚠
- p.Ile280Met Single submitter ⚠
- p.Ile282Met Single submitter ⚠
- p.Ile339Val Single submitter ⚠
- p.Leu139Val Single submitter ⚠
- p.Leu172Phe Single submitter ⚠
- p.Leu261Phe Single submitter ⚠
- p.Leu26Arg Single submitter ⚠
- p.Leu26fs Single submitter
- p.Leu26Met Single submitter ⚠
- p.Lys206fs Single submitter
- p.Lys220Asn Single submitter ⚠
- p.Lys245Glu Single submitter ⚠
- p.Lys338Asn Single submitter ⚠
- p.Met145Leu Single submitter ⚠
- p.Met240Ile Single submitter ⚠
- p.Met274Lys Single submitter ⚠
- p.Phe74Ser Single submitter ⚠
- p.Pro155Ser Single submitter ⚠
- p.Pro181Leu Single submitter ⚠
- p.Pro197Ala Single submitter ⚠
- p.Pro213Ser Single submitter ⚠
- p.Pro213Thr Single submitter ⚠
- p.Pro21Thr Single submitter ⚠
- p.Pro25Ser Single submitter ⚠
- p.Pro292Arg Single submitter ⚠
- p.Pro66Arg Single submitter ⚠
- p.Pro66Ser Single submitter ⚠
- p.Pro91Ser Single submitter ⚠
- p.Pro94Ser Single submitter ⚠
- p.Ser144Arg Single submitter ⚠
- p.Ser208Asn Single submitter ⚠
- p.Ser208Gly Single submitter ⚠
- p.Ser233Cys Single submitter ⚠
- p.Ser254Tyr Single submitter ⚠
- p.Ser257Leu Single submitter ⚠
- p.Ser257Trp Single submitter ⚠
- p.Ser27Leu Single submitter ⚠
- p.Ser323Ala Single submitter ⚠
- p.Ser7Phe Single submitter ⚠
- p.Thr125Asn Single submitter ⚠
- p.Thr140Lys Single submitter ⚠
- p.Thr302Ser Single submitter ⚠
- p.Tyr256Cys Single submitter ⚠
- p.Tyr54Cys Single submitter ⚠
- p.Val131Met Single submitter ⚠
- p.Val13Ala Single submitter ⚠
- p.Val177Ala Single submitter ⚠
- p.Val191Ile Single submitter ⚠
- p.Val232Ile Single submitter ⚠
- p.Val249Leu Single submitter ⚠
- p.Val249Met Single submitter ⚠
- p.Val270Ile Single submitter ⚠
- p.Val296Ile Single submitter ⚠