TBP — 43 ClinVar variants
All ClinVar germline TBP variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 24 flagged for review →
7 Benign · 1 Benign/Likely benign · 9 Likely benign · 26 Uncertain significance
Full TBP gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 24
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 20
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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TBP p.Pro133Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TBP p.Pro137Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TBP p.Ala11Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
TBP p.Ala155Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
TBP p.Ala184Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
TBP p.Ala96Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
TBP p.Arg186His
Uncertain significance
Single submitter
Inborn genetic diseases
-
TBP p.Glu271Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
TBP p.Glu271Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
TBP p.Gly134Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
TBP p.Leu138Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
TBP p.Pro119Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
TBP p.Pro131Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
TBP p.Ser105Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
TBP p.Ser115Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
TBP p.Thr129Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
TBP p.Thr136Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
TBP p.Thr339Met
Uncertain significance
Single submitter
Inborn genetic diseases
- TBP p.Val259Gly Uncertain significance Single submitter
-
TBP p.Val97Ala
Uncertain significance
Single submitter
Inborn genetic diseases
Predictors split 4
The independent predictors disagree with each other — read with care.
-
TBP p.Ile328Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
TBP p.Pro151Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
TBP p.Ser215Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
TBP p.Thr144Ile
Uncertain significance
Single submitter
Inborn genetic diseases
All TBP variants
Benign 7
- p.Asn257= Multiple submitters
- c.497+272A>G Single submitter
- c.55-303T>G Single submitter
- c.678-275C>T Single submitter
- c.941-144T>C Single submitter
- p.Gln88_Gln95del Single submitter
- p.Gln93_Gln95del Single submitter
Benign/Likely benign 1
- p.Gln72= Multiple submitters Inborn genetic diseases
Likely benign 9
- c.846-19T>C Single submitter
- p.Ala118Thr Single submitter Inborn genetic diseases
- p.Gln229= Single submitter
- p.Gln55= Single submitter
- p.Gln82= Single submitter
- p.Gln95del Single submitter
- p.Ile328= Single submitter
- p.Thr106Met Single submitter
- p.Ala190= No assertion criteria TBP-related disorder
Uncertain significance 26
- p.Pro133Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro137Leu Multiple submitters Inborn genetic diseases ⚠
- c.677+6C>G Single submitter
- p.Ala11Thr Single submitter Inborn genetic diseases ⚠
- p.Ala155Gly Single submitter Inborn genetic diseases ⚠
- p.Ala184Val Single submitter Inborn genetic diseases ⚠
- p.Ala96Thr Single submitter Inborn genetic diseases ⚠
- p.Arg186His Single submitter Inborn genetic diseases ⚠
- p.Glu271Asp Single submitter Inborn genetic diseases ⚠
- p.Glu271Gly Single submitter Inborn genetic diseases ⚠
- p.Gly134Cys Single submitter Inborn genetic diseases ⚠
- p.Ile328Val Single submitter Inborn genetic diseases ⚠
- p.Leu138Arg Single submitter Inborn genetic diseases ⚠
- p.Pro119Thr Single submitter Inborn genetic diseases ⚠
- p.Pro131Leu Single submitter Inborn genetic diseases ⚠
- p.Pro151Ser Single submitter Inborn genetic diseases ⚠
- p.Pro33Thr Single submitter Inborn genetic diseases
- p.Ser105Pro Single submitter Inborn genetic diseases ⚠
- p.Ser115Leu Single submitter Inborn genetic diseases ⚠
- p.Ser215Gly Single submitter Inborn genetic diseases ⚠
- p.Thr129Pro Single submitter Inborn genetic diseases ⚠
- p.Thr136Ala Single submitter Inborn genetic diseases ⚠
- p.Thr144Ile Single submitter Inborn genetic diseases ⚠
- p.Thr339Met Single submitter Inborn genetic diseases ⚠
- p.Val259Gly Single submitter ⚠
- p.Val97Ala Single submitter Inborn genetic diseases ⚠