CTBS — 63 ClinVar variants
All ClinVar germline CTBS variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 59 flagged for review →
3 Benign · 6 Likely benign · 54 Uncertain significance
Full CTBS gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 59
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.
- CTBS p.Arg169Ser Uncertain significance Single submitter
- CTBS p.Arg189Gly Uncertain significance Single submitter
- CTBS p.Arg277Gln Uncertain significance Single submitter
- CTBS p.Arg7Pro Uncertain significance Single submitter
- CTBS p.Asp136Val Uncertain significance Single submitter
- CTBS p.Asp179Val Uncertain significance Single submitter
- CTBS p.Gln77His Uncertain significance Single submitter
- CTBS p.Glu172Gln Uncertain significance Single submitter
- CTBS p.Gly21Ala Uncertain significance Single submitter
- CTBS p.Gly66Arg Uncertain significance Single submitter
- CTBS p.His267Asp Uncertain significance Single submitter
- CTBS p.Ile142Arg Uncertain significance Single submitter
- CTBS p.Leu129Val Uncertain significance Single submitter
- CTBS p.Lys105Arg Uncertain significance Single submitter
- CTBS p.Lys239Arg Uncertain significance Single submitter
- CTBS p.Met92Thr Uncertain significance Single submitter
- CTBS p.Pro280Leu Uncertain significance Single submitter
- CTBS p.Pro4Gln Uncertain significance Single submitter
- CTBS p.Thr232Asn Uncertain significance Single submitter
- CTBS p.Thr232Ile Uncertain significance Single submitter
- CTBS p.Trp182Ser Uncertain significance Single submitter
- CTBS p.Tyr258Cys Uncertain significance Single submitter
- CTBS p.Val206Ala Uncertain significance Single submitter
- CTBS p.Val268Ile Uncertain significance Single submitter
Predictors split 35
The independent predictors disagree with each other — read with care.
- CTBS p.Ala284Thr Uncertain significance Single submitter
- CTBS p.Ala32Val Uncertain significance Single submitter
- CTBS p.Arg287Cys Uncertain significance Single submitter
- CTBS p.Arg287His Likely benign Single submitter
- CTBS p.Arg349Gln Uncertain significance Single submitter
- CTBS p.Arg349Trp Benign Single submitter
- CTBS p.Arg3Gln Uncertain significance Single submitter
- CTBS p.Arg7Gln Uncertain significance Single submitter
- CTBS p.Asn317Lys Uncertain significance Single submitter
- CTBS p.Asp115Gly Uncertain significance Single submitter
- CTBS p.Asp364Gly Uncertain significance Single submitter
- CTBS p.Asp57His Uncertain significance Single submitter
- CTBS p.Asp64Glu Uncertain significance Single submitter
- CTBS p.Glu162Gly Uncertain significance Single submitter
- CTBS p.Gly323Val Uncertain significance Single submitter
- CTBS p.Gly38Trp Uncertain significance Single submitter
- CTBS p.Ile123Leu Uncertain significance Single submitter
- CTBS p.Ile142Met Uncertain significance Single submitter
- CTBS p.Ile171Thr Uncertain significance Single submitter
- CTBS p.Ile271Thr Likely benign Single submitter
- CTBS p.Leu247Phe Uncertain significance Single submitter
- CTBS p.Met240Ile Likely benign Single submitter
- CTBS p.Phe276Ser Uncertain significance Single submitter
- CTBS p.Pro116His Uncertain significance Single submitter
- CTBS p.Pro184Ser Uncertain significance Single submitter
- CTBS p.Pro333Arg Uncertain significance Single submitter
- CTBS p.Ser121Tyr Uncertain significance Single submitter
- CTBS p.Thr259Asn Uncertain significance Single submitter
- CTBS p.Thr293Met Likely benign Single submitter
- CTBS p.Tyr330Cys Uncertain significance Single submitter
- CTBS p.Tyr73Cys Uncertain significance Single submitter
- CTBS p.Tyr87Cys Uncertain significance Single submitter
- CTBS p.Val103Ala Uncertain significance Single submitter
- CTBS p.Val248Leu Uncertain significance Single submitter
- CTBS p.Val289Met Uncertain significance Single submitter
All CTBS variants
Benign 3
- p.Asn357= Multiple submitters
- p.Arg34= Single submitter
- p.Arg349Trp Single submitter ⚠
Likely benign 6
- p.Arg287His Single submitter ⚠
- p.Arg312Gln Single submitter
- p.Ile271Thr Single submitter ⚠
- p.Met240Ile Single submitter ⚠
- p.Phe118Ser Single submitter
- p.Thr293Met Single submitter ⚠
Uncertain significance 54
- p.Ala284Thr Single submitter ⚠
- p.Ala32Val Single submitter ⚠
- p.Arg169Ser Single submitter ⚠
- p.Arg189Gly Single submitter ⚠
- p.Arg277Gln Single submitter ⚠
- p.Arg287Cys Single submitter ⚠
- p.Arg349Gln Single submitter ⚠
- p.Arg3Gln Single submitter ⚠
- p.Arg7Gln Single submitter ⚠
- p.Arg7Pro Single submitter ⚠
- p.Asn317Lys Single submitter ⚠
- p.Asp115Gly Single submitter ⚠
- p.Asp136Val Single submitter ⚠
- p.Asp179Val Single submitter ⚠
- p.Asp364Gly Single submitter ⚠
- p.Asp57His Single submitter ⚠
- p.Asp64Glu Single submitter ⚠
- p.Gln77His Single submitter ⚠
- p.Glu162Gly Single submitter ⚠
- p.Glu172Gln Single submitter ⚠
- p.Gly21Ala Single submitter ⚠
- p.Gly323Val Single submitter ⚠
- p.Gly38Trp Single submitter ⚠
- p.Gly66Arg Single submitter ⚠
- p.His267Asp Single submitter ⚠
- p.Ile123Leu Single submitter ⚠
- p.Ile142Arg Single submitter ⚠
- p.Ile142Met Single submitter ⚠
- p.Ile171Thr Single submitter ⚠
- p.Leu129Val Single submitter ⚠
- p.Leu247Phe Single submitter ⚠
- p.Lys105Arg Single submitter ⚠
- p.Lys239Arg Single submitter ⚠
- p.Met92Thr Single submitter ⚠
- p.Phe276Ser Single submitter ⚠
- p.Pro116His Single submitter ⚠
- p.Pro184Ser Single submitter ⚠
- p.Pro280Leu Single submitter ⚠
- p.Pro333Arg Single submitter ⚠
- p.Pro4Gln Single submitter ⚠
- p.Ser121Tyr Single submitter ⚠
- p.Thr232Asn Single submitter ⚠
- p.Thr232Ile Single submitter ⚠
- p.Thr259Asn Single submitter ⚠
- p.Trp182Ser Single submitter ⚠
- p.Tyr258Cys Single submitter ⚠
- p.Tyr330Cys Single submitter ⚠
- p.Tyr73Cys Single submitter ⚠
- p.Tyr87Cys Single submitter ⚠
- p.Val103Ala Single submitter ⚠
- p.Val206Ala Single submitter ⚠
- p.Val248Leu Single submitter ⚠
- p.Val268Ile Single submitter ⚠
- p.Val289Met Single submitter ⚠