TBC1D5 — 101 ClinVar variants
All ClinVar germline TBC1D5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 89 flagged for review →
8 Likely benign · 93 Uncertain significance
Full TBC1D5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 89
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 73
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- TBC1D5 p.Ala371Asp Uncertain significance Single submitter
- TBC1D5 p.Ala408Thr Uncertain significance Single submitter
- TBC1D5 p.Ala450Val Uncertain significance Single submitter
- TBC1D5 p.Ala503Thr Uncertain significance Single submitter
- TBC1D5 p.Ala684Thr Uncertain significance Single submitter
- TBC1D5 p.Ala721Pro Uncertain significance Single submitter
- TBC1D5 p.Arg108Lys Uncertain significance Single submitter
- TBC1D5 p.Arg336Gln Uncertain significance Single submitter
- TBC1D5 p.Arg435Gln Uncertain significance Single submitter
- TBC1D5 p.Arg676His Uncertain significance Single submitter
- TBC1D5 p.Arg706Gln Uncertain significance Single submitter
- TBC1D5 p.Arg706Pro Uncertain significance Single submitter
- TBC1D5 p.Arg761Cys Uncertain significance Single submitter
- TBC1D5 p.Asn417Ser Uncertain significance Single submitter
- TBC1D5 p.Asp313Asn Uncertain significance Single submitter
- TBC1D5 p.Asp735Asn Uncertain significance Single submitter
- TBC1D5 p.Asp801Asn Uncertain significance Single submitter
- TBC1D5 p.Asp802Asn Uncertain significance Single submitter
- TBC1D5 p.Cys96Tyr Uncertain significance Single submitter
- TBC1D5 p.Gln17Glu Uncertain significance Single submitter
- TBC1D5 p.Gln273Arg Uncertain significance Single submitter
- TBC1D5 p.Gln509Glu Uncertain significance Single submitter
- TBC1D5 p.Gln515Arg Uncertain significance Single submitter
- TBC1D5 p.Gln666Pro Uncertain significance Single submitter
- TBC1D5 p.Gln689Arg Uncertain significance Single submitter
- TBC1D5 p.Gln689His Uncertain significance Single submitter
- TBC1D5 p.Gln704Arg Uncertain significance Single submitter
- TBC1D5 p.Gln708Arg Uncertain significance Single submitter
- TBC1D5 p.Gln758Lys Uncertain significance Single submitter
- TBC1D5 p.Gln80Arg Uncertain significance Single submitter
- TBC1D5 p.Glu198Lys Uncertain significance Single submitter
- TBC1D5 p.Glu208Lys Uncertain significance Single submitter
- TBC1D5 p.Glu259Gln Uncertain significance Single submitter
- TBC1D5 p.Glu609Asp Uncertain significance Single submitter
- TBC1D5 p.Glu685Lys Uncertain significance Single submitter
- TBC1D5 p.Gly359Ser Uncertain significance Single submitter
- TBC1D5 p.Gly399Glu Uncertain significance Single submitter
- TBC1D5 p.Gly39Arg Uncertain significance Single submitter
- TBC1D5 p.Gly701Ser Uncertain significance Single submitter
- TBC1D5 p.His248Leu Uncertain significance Single submitter
- TBC1D5 p.His312Gln Uncertain significance Single submitter
- TBC1D5 p.His319Arg Uncertain significance Single submitter
- TBC1D5 p.His506Arg Uncertain significance Single submitter
- TBC1D5 p.His638Arg Uncertain significance Single submitter
- TBC1D5 p.Leu159Phe Uncertain significance Single submitter
- TBC1D5 p.Leu355Val Uncertain significance Single submitter
- TBC1D5 p.Leu647Val Uncertain significance Single submitter
- TBC1D5 p.Lys102Arg Uncertain significance Single submitter
- TBC1D5 p.Met137Leu Uncertain significance Single submitter
- TBC1D5 p.Met162Val Uncertain significance Single submitter
- TBC1D5 p.Met237Val Uncertain significance Single submitter
- TBC1D5 p.Met280Arg Uncertain significance Single submitter
- TBC1D5 p.Met714Ile Uncertain significance Single submitter
- TBC1D5 p.Phe573Ile Uncertain significance Single submitter
- TBC1D5 p.Phe616Ser Uncertain significance Single submitter
- TBC1D5 p.Pro795Arg Uncertain significance Single submitter
- TBC1D5 p.Ser117Asn Uncertain significance Single submitter
- TBC1D5 p.Ser230Cys Uncertain significance Single submitter
- TBC1D5 p.Ser382Cys Uncertain significance Single submitter
- TBC1D5 p.Ser403Leu Uncertain significance Single submitter
- TBC1D5 p.Ser44Phe Uncertain significance Single submitter
- TBC1D5 p.Ser477Ile Uncertain significance Single submitter
- TBC1D5 p.Ser487Asn Uncertain significance Single submitter
- TBC1D5 p.Ser554Asn Uncertain significance Single submitter
- TBC1D5 p.Ser598Gly Uncertain significance Single submitter
- TBC1D5 p.Ser88Arg Uncertain significance Single submitter
- TBC1D5 p.Thr45Ala Uncertain significance Single submitter
- TBC1D5 p.Thr51Ile Uncertain significance Single submitter
- TBC1D5 p.Tyr330Cys Uncertain significance Single submitter
- TBC1D5 p.Tyr330His Uncertain significance Single submitter
- TBC1D5 p.Val131Ala Uncertain significance Single submitter
- TBC1D5 p.Val421Met Uncertain significance Single submitter
- TBC1D5 p.Val525Met Uncertain significance Single submitter
Predictors split 16
The independent predictors disagree with each other — read with care.
- TBC1D5 p.Ala612Pro Uncertain significance Single submitter
- TBC1D5 p.Arg183Ser Uncertain significance Single submitter
- TBC1D5 p.Asp655Gly Uncertain significance Single submitter
- TBC1D5 p.Glu654Gly Uncertain significance Single submitter
- TBC1D5 p.Gly20Arg Uncertain significance Single submitter
- TBC1D5 p.His319Asn Uncertain significance Single submitter
- TBC1D5 p.Ile329Met Uncertain significance Single submitter
- TBC1D5 p.Leu217Phe Uncertain significance Single submitter
- TBC1D5 p.Leu389Val Uncertain significance Single submitter
- TBC1D5 p.Leu671Val Uncertain significance Single submitter
- TBC1D5 p.Met627Lys Uncertain significance Single submitter
- TBC1D5 p.Phe410Ser Uncertain significance Single submitter
- TBC1D5 p.Phe737Leu Uncertain significance Single submitter
- TBC1D5 p.Thr294Ile Uncertain significance Single submitter
- TBC1D5 p.Val659Asp Uncertain significance Single submitter
- TBC1D5 p.Val812Leu Uncertain significance Single submitter
All TBC1D5 variants
Likely benign 8
- p.Asn733Ser Single submitter
- p.Leu95Phe Single submitter
- p.Val240Leu Single submitter
- p.Val564Ile Single submitter
- c.1246-3dup No assertion criteria TBC1D5-related disorder
- c.97+29078G>C No assertion criteria TBC1D5-related disorder
- p.Ala693Glu No assertion criteria TBC1D5-related disorder
- p.Val640Leu No assertion criteria TBC1D5-related disorder
Uncertain significance 93
- p.Ala371Asp Single submitter ⚠
- p.Ala408Thr Single submitter ⚠
- p.Ala450Val Single submitter ⚠
- p.Ala503Thr Single submitter ⚠
- p.Ala612Pro Single submitter ⚠
- p.Ala684Thr Single submitter ⚠
- p.Ala721Pro Single submitter ⚠
- p.Arg108Lys Single submitter ⚠
- p.Arg183Ser Single submitter ⚠
- p.Arg336Gln Single submitter ⚠
- p.Arg435Gln Single submitter ⚠
- p.Arg676His Single submitter ⚠
- p.Arg706Gln Single submitter ⚠
- p.Arg706Pro Single submitter ⚠
- p.Arg761Cys Single submitter ⚠
- p.Asn417Ser Single submitter ⚠
- p.Asp313Asn Single submitter ⚠
- p.Asp531Asn Single submitter
- p.Asp655Gly Single submitter ⚠
- p.Asp735Asn Single submitter ⚠
- p.Asp801Asn Single submitter ⚠
- p.Asp802Asn Single submitter ⚠
- p.Cys96Tyr Single submitter ⚠
- p.Gln17Glu Single submitter ⚠
- p.Gln273Arg Single submitter ⚠
- p.Gln509Glu Single submitter ⚠
- p.Gln515Arg Single submitter ⚠
- p.Gln666Pro Single submitter ⚠
- p.Gln689Arg Single submitter ⚠
- p.Gln689His Single submitter ⚠
- p.Gln704Arg Single submitter ⚠
- p.Gln708Arg Single submitter ⚠
- p.Gln758Lys Single submitter ⚠
- p.Gln80Arg Single submitter ⚠
- p.Glu198Lys Single submitter ⚠
- p.Glu208Lys Single submitter ⚠
- p.Glu259Gln Single submitter ⚠
- p.Glu609Asp Single submitter ⚠
- p.Glu654Gly Single submitter ⚠
- p.Glu685Lys Single submitter ⚠
- p.Gly20Arg Single submitter ⚠
- p.Gly359Ser Single submitter ⚠
- p.Gly399Glu Single submitter ⚠
- p.Gly39Arg Single submitter ⚠
- p.Gly530Asp Single submitter
- p.Gly701Ser Single submitter ⚠
- p.His248Leu Single submitter ⚠
- p.His312Gln Single submitter ⚠
- p.His319Arg Single submitter ⚠
- p.His319Asn Single submitter ⚠
- p.His506Arg Single submitter ⚠
- p.His638Arg Single submitter ⚠
- p.His696Asn Single submitter
- p.Ile329Met Single submitter ⚠
- p.Leu159Phe Single submitter ⚠
- p.Leu217Phe Single submitter ⚠
- p.Leu355Val Single submitter ⚠
- p.Leu389Val Single submitter ⚠
- p.Leu647Val Single submitter ⚠
- p.Leu671Val Single submitter ⚠
- p.Lys102Arg Single submitter ⚠
- p.Met137Leu Single submitter ⚠
- p.Met162Val Single submitter ⚠
- p.Met237Val Single submitter ⚠
- p.Met280Arg Single submitter ⚠
- p.Met627Lys Single submitter ⚠
- p.Met714Ile Single submitter ⚠
- p.Phe410Ser Single submitter ⚠
- p.Phe573Ile Single submitter ⚠
- p.Phe616Ser Single submitter ⚠
- p.Phe737Leu Single submitter ⚠
- p.Pro795Arg Single submitter ⚠
- p.Ser117Asn Single submitter ⚠
- p.Ser230Cys Single submitter ⚠
- p.Ser382Cys Single submitter ⚠
- p.Ser403Leu Single submitter ⚠
- p.Ser44Phe Single submitter ⚠
- p.Ser477Ile Single submitter ⚠
- p.Ser487Asn Single submitter ⚠
- p.Ser554Asn Single submitter ⚠
- p.Ser598Gly Single submitter ⚠
- p.Ser88Arg Single submitter ⚠
- p.Thr294Ile Single submitter ⚠
- p.Thr45Ala Single submitter ⚠
- p.Thr51Ile Single submitter ⚠
- p.Tyr330Cys Single submitter ⚠
- p.Tyr330His Single submitter ⚠
- p.Tyr68Cys Single submitter
- p.Val131Ala Single submitter ⚠
- p.Val421Met Single submitter ⚠
- p.Val525Met Single submitter ⚠
- p.Val659Asp Single submitter ⚠
- p.Val812Leu Single submitter ⚠