TBCB — 46 ClinVar variants
All ClinVar germline TBCB variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 43 flagged for review →
1 Likely benign · 45 Uncertain significance
Full TBCB 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 30
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
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TBCB p.Tyr197Asn
Uncertain significance
Multiple submitters
neurodevelopmental disorder with behavioral abnormalities and childhood-onset spastic paraplegia
- TBCB p.Ala218Gly Uncertain significance Single submitter
- TBCB p.Arg103Gly Uncertain significance Single submitter
- TBCB p.Arg138Gln Uncertain significance Single submitter
- TBCB p.Arg148His Uncertain significance Single submitter
- TBCB p.Arg23Cys Uncertain significance Single submitter
- TBCB p.Arg94Cys Uncertain significance Single submitter
- TBCB p.Arg94His Uncertain significance Single submitter
- TBCB p.Asn209Lys Uncertain significance Single submitter
- TBCB p.Asp198His Uncertain significance Single submitter
- TBCB p.Glu243Lys Uncertain significance Single submitter
- TBCB p.Gly131Arg Uncertain significance Single submitter
- TBCB p.Gly171Glu Uncertain significance Single submitter
- TBCB p.Gly232Glu Uncertain significance Single submitter
- TBCB p.Gly240Arg Uncertain significance Single submitter
- TBCB p.Gly5Ala Uncertain significance Single submitter
- TBCB p.Gly5Arg Uncertain significance Single submitter
- TBCB p.His90Arg Uncertain significance Single submitter
- TBCB p.Ile109Thr Uncertain significance Single submitter
- TBCB p.Ile34Val Uncertain significance Single submitter
- TBCB p.Lys211Arg Uncertain significance Single submitter
- TBCB p.Met180Ile Uncertain significance Single submitter
- TBCB p.Pro174Ala Uncertain significance Single submitter
- TBCB p.Pro200Ser Uncertain significance Single submitter
- TBCB p.Ser123Cys Uncertain significance Single submitter
- TBCB p.Ser128Arg Uncertain significance Single submitter
- TBCB p.Thr230Met Uncertain significance Single submitter
- TBCB p.Tyr133Ser Uncertain significance Single submitter
- TBCB p.Val161Leu Uncertain significance Single submitter
- TBCB p.Val6Met Uncertain significance Single submitter
Predictors split 13
The independent predictors disagree with each other — read with care.
- TBCB p.Arg103Pro Uncertain significance Single submitter
- TBCB p.Arg196Cys Uncertain significance Single submitter
- TBCB p.Arg212Cys Uncertain significance Single submitter
- TBCB p.Glu105Lys Uncertain significance Single submitter
- TBCB p.Glu136Gly Uncertain significance Single submitter
- TBCB p.Glu236Ala Uncertain significance Single submitter
- TBCB p.Glu25Asp Uncertain significance Single submitter
- TBCB p.Lys188Arg Uncertain significance Single submitter
- TBCB p.Pro189Thr Uncertain significance Single submitter
- TBCB p.Pro9Leu Uncertain significance Single submitter
- TBCB p.Ser17Asn Uncertain significance Single submitter
- TBCB p.Ser29Cys Uncertain significance Single submitter
- TBCB p.Thr178Ile Uncertain significance Single submitter
All TBCB variants
Likely benign 1
- p.Ser207= Single submitter
Uncertain significance 45
- p.Tyr197Asn Multiple submitters neurodevelopmental disorder with behavioral abnormalities and childhood-onset spastic paraplegia ⚠
- p.Ala218Gly Single submitter ⚠
- p.Arg103Gly Single submitter ⚠
- p.Arg103Pro Single submitter ⚠
- p.Arg138Gln Single submitter ⚠
- p.Arg148His Single submitter ⚠
- p.Arg196Cys Single submitter ⚠
- p.Arg212Cys Single submitter ⚠
- p.Arg23Cys Single submitter ⚠
- p.Arg94Cys Single submitter ⚠
- p.Arg94His Single submitter ⚠
- p.Asn209Lys Single submitter ⚠
- p.Asp198His Single submitter ⚠
- p.Glu105Lys Single submitter ⚠
- p.Glu136Gly Single submitter ⚠
- p.Glu236Ala Single submitter ⚠
- p.Glu243Lys Single submitter ⚠
- p.Glu25Asp Single submitter ⚠
- p.Gly131Arg Single submitter ⚠
- p.Gly171Arg Single submitter
- p.Gly171Glu Single submitter ⚠
- p.Gly232Glu Single submitter ⚠
- p.Gly240Arg Single submitter ⚠
- p.Gly5Ala Single submitter ⚠
- p.Gly5Arg Single submitter ⚠
- p.His90Arg Single submitter ⚠
- p.Ile109Thr Single submitter ⚠
- p.Ile34Val Single submitter ⚠
- p.Lys188Arg Single submitter ⚠
- p.Lys211Arg Single submitter ⚠
- p.Met180Ile Single submitter ⚠
- p.Pro174Ala Single submitter ⚠
- p.Pro189Thr Single submitter ⚠
- p.Pro200Ser Single submitter ⚠
- p.Pro9Leu Single submitter ⚠
- p.Ser123Cys Single submitter ⚠
- p.Ser128Arg Single submitter ⚠
- p.Ser17Asn Single submitter ⚠
- p.Ser29Cys Single submitter ⚠
- p.Thr178Ile Single submitter ⚠
- p.Thr230Met Single submitter ⚠
- p.Tyr133Ser Single submitter ⚠
- p.Val121Phe Single submitter
- p.Val161Leu Single submitter ⚠
- p.Val6Met Single submitter ⚠