TBL2 — 81 ClinVar variants

All ClinVar germline TBL2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 60 flagged for review →

1 Conflicting · 3 Benign · 2 Benign/Likely benign · 11 Likely benign · 64 Uncertain significance

Full TBL2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 60

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 1

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

TBL2 p.Arg292Gln Conflicting Single submitter

Predictors lean, ClinVar uncertain 44

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

Predictors split 15

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

All TBL2 variants

Conflicting classifications of pathogenicity 1

p.Arg292Gln Single submitter ⚠

Benign 3

p.Gln229= Multiple submitters
p.Glu135= Multiple submitters
p.Glu257Ala Multiple submitters

Benign/Likely benign 2

p.Ala189= Multiple submitters
p.Ala332= Multiple submitters

Likely benign 11

c.261+4C>T Single submitter
c.879-3C>T Single submitter
p.Arg293= Single submitter
p.Arg370Gln Single submitter
p.Asn289= Single submitter
p.Lys315Gln Single submitter
p.Pro334= Single submitter
p.Ser423Asn Single submitter
p.Ser56Leu Single submitter
p.Tyr64His Single submitter
p.Val269= Single submitter

Uncertain significance 64

c.599-7C>A Single submitter
p.Ala139Thr Single submitter ⚠
p.Ala139Val Single submitter ⚠
p.Ala189Val Single submitter ⚠
p.Ala236Thr Single submitter ⚠
p.Ala245Ser Single submitter ⚠
p.Ala280Thr Single submitter ⚠
p.Ala330Val Single submitter ⚠
p.Ala333Val Single submitter ⚠
p.Ala395Val Single submitter ⚠
p.Ala444Ser Single submitter ⚠
p.Arg115Cys Single submitter ⚠
p.Arg125Gln Single submitter ⚠
p.Arg169Trp Single submitter ⚠
p.Arg271Gln Single submitter ⚠
p.Arg292Trp Single submitter ⚠
p.Arg325Cys Single submitter ⚠
p.Arg325Leu Single submitter ⚠
p.Arg336His Single submitter ⚠
p.Arg360Pro Single submitter ⚠
p.Arg361Gln Single submitter ⚠
p.Arg370Trp Single submitter ⚠
p.Arg386His Single submitter ⚠
p.Arg397Gln Single submitter
p.Arg418Gln Single submitter ⚠
p.Arg418Trp Single submitter ⚠
p.Arg425Cys Single submitter ⚠
p.Arg427Met Single submitter ⚠
p.Arg427Ser Single submitter ⚠
p.Arg66Gln Single submitter ⚠
p.Arg66Trp Single submitter ⚠
p.Arg68Gln Single submitter ⚠
p.Asn133Ser Single submitter ⚠
p.Asn228Lys Single submitter ⚠
p.Asp137Asn Single submitter ⚠
p.Asp300Glu Single submitter ⚠
p.Cys240Arg Single submitter ⚠
p.Gln73Arg Single submitter ⚠
p.Glu170Gln Single submitter ⚠
p.Glu274Lys Single submitter ⚠
p.Glu363Lys Single submitter ⚠
p.Glu411Gly Single submitter ⚠
p.Gly264Trp Single submitter
p.His234Pro Single submitter ⚠
p.His283Tyr Single submitter ⚠
p.His75Arg Single submitter ⚠
p.Ile203Val Single submitter ⚠
p.Ile225Val Single submitter ⚠
p.Leu339Pro Single submitter ⚠
p.Lys313Asn Single submitter ⚠
p.Met130Leu Single submitter ⚠
p.Met230Ile Single submitter ⚠
p.Pro341Arg Single submitter
p.Ser352Gly Single submitter ⚠
p.Thr160Ile Single submitter ⚠
p.Thr210Ser Single submitter
p.Thr233Ile Single submitter ⚠
p.Tyr312Asp Single submitter ⚠
p.Val142Ala Single submitter ⚠
p.Val153Ile Single submitter ⚠
p.Val253Gly Single submitter ⚠
p.Val258Ile Single submitter ⚠
p.Val270Leu Single submitter ⚠
p.Val310Met Single submitter ⚠