TBL3 — 197 ClinVar variants

All ClinVar germline TBL3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 176 flagged for review →

3 Benign · 13 Likely benign · 181 Uncertain significance

Full TBL3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 176

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 132

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 44

The independent predictors disagree with each other — read with care.

All TBL3 variants

Benign 3

c.1742+8G>C Multiple submitters
p.Arg86= Multiple submitters
p.Pro161= Single submitter

Likely benign 13

p.Ala779Thr Single submitter
p.Arg140Gln Single submitter
p.Arg325Gln Single submitter
p.Arg705Gln Single submitter
p.Arg754Gln Single submitter
p.Ile487Val Single submitter
p.Pro357= Single submitter
p.Ser418= Single submitter
p.Val135Ile Single submitter ⚠
p.Val235Met Single submitter ⚠
p.Val350Ile Single submitter
p.Val42Ile Single submitter
p.Val527= Single submitter

Uncertain significance 181

c.*803G>A Single submitter ⚠
p.Ala106Thr Single submitter ⚠
p.Ala106Val Single submitter
p.Ala158Gly Single submitter ⚠
p.Ala158Thr Single submitter ⚠
p.Ala172Thr Single submitter ⚠
p.Ala197Thr Single submitter ⚠
p.Ala205Thr Single submitter ⚠
p.Ala241Thr Single submitter ⚠
p.Ala304Thr Single submitter ⚠
p.Ala312Thr Single submitter ⚠
p.Ala331Thr Single submitter ⚠
p.Ala368Asp Single submitter ⚠
p.Ala454Thr Single submitter ⚠
p.Ala461Asp Single submitter ⚠
p.Ala486Gly Single submitter ⚠
p.Ala570Val Single submitter ⚠
p.Ala603Thr Single submitter ⚠
p.Ala620Thr Single submitter ⚠
p.Ala638Val Single submitter ⚠
p.Ala641Thr Single submitter ⚠
p.Ala669Val Single submitter ⚠
p.Ala673Val Single submitter ⚠
p.Ala713Gly Single submitter ⚠
p.Ala71Val Single submitter ⚠
p.Ala743Val Single submitter ⚠
p.Ala795Thr Single submitter ⚠
p.Ala94Thr Single submitter ⚠
p.Arg134Cys Single submitter ⚠
p.Arg148Gln Single submitter ⚠
p.Arg178Cys Single submitter ⚠
p.Arg215Cys Single submitter ⚠
p.Arg215His Single submitter
p.Arg272Cys Single submitter ⚠
p.Arg322Cys Single submitter ⚠
p.Arg341Gln Single submitter ⚠
p.Arg386Gln Single submitter ⚠
p.Arg476His Single submitter ⚠
p.Arg501His Single submitter ⚠
p.Arg521Gln Single submitter ⚠
p.Arg521Trp Single submitter ⚠
p.Arg522His Single submitter ⚠
p.Arg599Gly Single submitter ⚠
p.Arg615Trp Single submitter ⚠
p.Arg665Gln Single submitter ⚠
p.Arg668Trp Single submitter ⚠
p.Arg678Gln Single submitter ⚠
p.Arg678Trp Single submitter ⚠
p.Arg708Cys Single submitter ⚠
p.Arg716Cys Single submitter ⚠
p.Arg716His Single submitter ⚠
p.Arg741Gln Single submitter ⚠
p.Arg754Trp Single submitter ⚠
p.Arg86Gln Single submitter ⚠
p.Asn14Asp Single submitter ⚠
p.Asn722Ile Single submitter ⚠
p.Asp184Glu Single submitter ⚠
p.Asp313Asn Single submitter ⚠
p.Asp33Asn Single submitter ⚠
p.Asp563Asn Single submitter ⚠
p.Asp563His Single submitter
p.Asp584His Single submitter ⚠
p.Asp618Asn Single submitter ⚠
p.Asp634Gly Single submitter ⚠
p.Asp65Glu Single submitter ⚠
p.Asp709His Single submitter ⚠
p.Cys219Arg Single submitter ⚠
p.Cys358Arg Single submitter ⚠
p.Cys444Tyr Single submitter ⚠
p.Cys597Ser Single submitter ⚠
p.Cys613Gly Single submitter ⚠
p.Gln268Arg Single submitter ⚠
p.Gln34Arg Single submitter ⚠
p.Gln398Arg Single submitter ⚠
p.Gln398His Single submitter ⚠
p.Gln442Arg Single submitter ⚠
p.Gln499Arg Single submitter ⚠
p.Gln512Arg Single submitter ⚠
p.Gln577Arg Single submitter ⚠
p.Gln769Glu Single submitter ⚠
p.Gln776Lys Single submitter ⚠
p.Glu275Lys Single submitter ⚠
p.Glu320Asp Single submitter ⚠
p.Glu320Lys Single submitter ⚠
p.Glu346Gly Single submitter ⚠
p.Glu596Gln Single submitter ⚠
p.Glu605Lys Single submitter ⚠
p.Glu697Lys Single submitter ⚠
p.Glu745Lys Single submitter ⚠
p.Glu746Lys Single submitter ⚠
p.Glu746Val Single submitter ⚠
p.Gly131Arg Single submitter
p.Gly143Arg Single submitter ⚠
p.Gly149Arg Single submitter ⚠
p.Gly152Val Single submitter ⚠
p.Gly207Ser Single submitter ⚠
p.Gly28Arg Single submitter ⚠
p.Gly290Ser Single submitter ⚠
p.Gly292Arg Single submitter ⚠
p.Gly305Ser Single submitter ⚠
p.Gly374Ser Single submitter ⚠
p.Gly465Ser Single submitter ⚠
p.Gly561Arg Single submitter ⚠
p.Gly805Ser Single submitter ⚠
p.His194Pro Single submitter ⚠
p.His297Tyr Single submitter ⚠
p.His375Gln Single submitter ⚠
p.His422Tyr Single submitter ⚠
p.His612Gln Single submitter ⚠
p.Ile378Thr Single submitter ⚠
p.Ile689Val Single submitter ⚠
p.Leu167Pro Single submitter ⚠
p.Leu253Met Single submitter ⚠
p.Leu308Arg Single submitter ⚠
p.Leu61Met Single submitter ⚠
p.Leu714Val Single submitter ⚠
p.Leu775Phe Single submitter ⚠
p.Leu790Phe Single submitter ⚠
p.Lys105Arg Single submitter ⚠
p.Lys256Thr Single submitter ⚠
p.Met210Val Single submitter ⚠
p.Met532Val Single submitter ⚠
p.Phe203Leu Single submitter ⚠
p.Phe362Leu Single submitter ⚠
p.Phe559Leu Single submitter ⚠
p.Phe783Leu Single submitter ⚠
p.Pro111Ser Single submitter
p.Pro119Leu Single submitter ⚠
p.Pro234Leu Single submitter ⚠
p.Pro693Leu Single submitter ⚠
p.Pro762His Single submitter ⚠
p.Pro76Leu Single submitter ⚠
p.Pro797His Single submitter ⚠
p.Pro799Arg Single submitter ⚠
p.Pro799Ser Single submitter ⚠
p.Pro808Ala Single submitter ⚠
p.Ser150Leu Single submitter ⚠
p.Ser171Leu Single submitter ⚠
p.Ser278Pro Single submitter ⚠
p.Ser423Thr Single submitter ⚠
p.Ser457Phe Single submitter ⚠
p.Ser518Leu Single submitter ⚠
p.Ser54Leu Single submitter ⚠
p.Ser583Leu Single submitter ⚠
p.Ser772Asn Single submitter ⚠
p.Ser99Ile Single submitter ⚠
p.Ser99Thr Single submitter ⚠
p.Thr164Ile Single submitter ⚠
p.Thr173Met Single submitter ⚠
p.Thr284Arg Single submitter ⚠
p.Thr284Met Single submitter ⚠
p.Thr376Met Single submitter ⚠
p.Thr502Ala Single submitter ⚠
p.Thr502Lys Single submitter ⚠
p.Thr720Met Single submitter ⚠
p.Thr720Pro Single submitter ⚠
p.Thr798Pro Single submitter ⚠
p.Trp136Cys Single submitter ⚠
p.Tyr195His Single submitter ⚠
p.Val112Met Single submitter ⚠
p.Val133Met Single submitter ⚠
p.Val154Leu Single submitter
p.Val179Leu Single submitter ⚠
p.Val179Met Single submitter ⚠
p.Val239Met Single submitter ⚠
p.Val255Met Single submitter ⚠
p.Val273Met Single submitter ⚠
p.Val306Met Single submitter ⚠
p.Val337Asp Single submitter ⚠
p.Val337Ile Single submitter ⚠
p.Val352Met Single submitter ⚠
p.Val361Ala Single submitter ⚠
p.Val379Ile Single submitter ⚠
p.Val414Met Single submitter ⚠
p.Val427Leu Single submitter ⚠
p.Val516Ala Single submitter ⚠
p.Val527Ile Single submitter ⚠
p.Val569Ala Single submitter ⚠
p.Val651Gly Single submitter ⚠
p.Val652Ile Single submitter ⚠
p.Val682Met Single submitter