TUBB6 — 58 ClinVar variants
All ClinVar germline TUBB6 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 39 flagged for review →
1 Pathogenic · 1 Likely pathogenic · 7 Benign · 7 Likely benign · 42 Uncertain significance
Full TUBB6 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 39
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 34
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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TUBB6 p.Ala206Val
Uncertain significance
Multiple submitters
facial palsy, congenital, with ptosis and velopharyngeal dysfunction
- TUBB6 p.Ala271Val Uncertain significance Single submitter
- TUBB6 p.Ala332Thr Uncertain significance Single submitter
- TUBB6 p.Arg121Gly Uncertain significance Single submitter
- TUBB6 p.Arg391His Uncertain significance Single submitter
- TUBB6 p.Asp118Asn Uncertain significance Single submitter
- TUBB6 p.Asp203Asn Uncertain significance Single submitter
- TUBB6 p.Asp295Glu Uncertain significance Single submitter
- TUBB6 p.Glu111Asp Uncertain significance Single submitter
-
TUBB6 p.Glu125Asp
Uncertain significance
Single submitter
facial palsy, congenital, with ptosis and velopharyngeal dysfunction
- TUBB6 p.Glu194Lys Uncertain significance Single submitter
- TUBB6 p.Glu198Lys Uncertain significance Single submitter
- TUBB6 p.Glu198Val Uncertain significance Single submitter
- TUBB6 p.Glu383Lys Uncertain significance Single submitter
-
TUBB6 p.Glu410Lys
Uncertain significance
Single submitter
facial palsy, congenital, with ptosis and velopharyngeal dysfunction
- TUBB6 p.Glu421Lys Uncertain significance Single submitter
- TUBB6 p.Gly109Asp Uncertain significance Single submitter
- TUBB6 p.Gly223Arg Uncertain significance Single submitter
- TUBB6 p.Gly360Asp Uncertain significance Single submitter
- TUBB6 p.Gly96Arg Uncertain significance Single submitter
- TUBB6 p.His105Gln Uncertain significance Single submitter
- TUBB6 p.Ile333Val Uncertain significance Single submitter
-
TUBB6 p.Ile444Met
Uncertain significance
Single submitter
facial palsy, congenital, with ptosis and velopharyngeal dysfunction
- TUBB6 p.Leu84Phe Uncertain significance Single submitter
- TUBB6 p.Met170Lys Uncertain significance Single submitter
- TUBB6 p.Phe378Leu Uncertain significance Single submitter
- TUBB6 p.Pro305Leu Uncertain significance Single submitter
- TUBB6 p.Ser322Phe Uncertain significance Single submitter
- TUBB6 p.Thr136Ser Uncertain significance Single submitter
- TUBB6 p.Thr149Lys Uncertain significance Single submitter
- TUBB6 p.Val169Ile Uncertain significance Single submitter
- TUBB6 p.Val180Met Uncertain significance Single submitter
-
TUBB6 p.Arg262His
Uncertain significance
No assertion criteria
TUBB6-related disorder
-
TUBB6 p.Val236Asp
Uncertain significance
No assertion criteria
TUBB6-related disorder
Predictors split 5
The independent predictors disagree with each other — read with care.
- TUBB6 p.Arg276His Uncertain significance Single submitter
- TUBB6 p.Arg359Cys Uncertain significance Single submitter
- TUBB6 p.Asp439Asn Uncertain significance Single submitter
- TUBB6 p.Ser365Cys Uncertain significance Single submitter
-
TUBB6 p.Phe394Ser
Pathogenic
No assertion criteria
facial palsy, congenital, with ptosis and velopharyngeal dysfunction
All TUBB6 variants
Pathogenic 1
- p.Phe394Ser No assertion criteria facial palsy, congenital, with ptosis and velopharyngeal dysfunction ⚠
Likely pathogenic 1
- p.Phe385Ile Single submitter ptosis
Benign 7
- c.-19G>T Multiple submitters facial palsy, congenital, with ptosis and velopharyngeal dysfunction
- c.-47C>T Multiple submitters facial palsy, congenital, with ptosis and velopharyngeal dysfunction
- c.-49T>A Multiple submitters facial palsy, congenital, with ptosis and velopharyngeal dysfunction
- p.Ser55= Multiple submitters facial palsy, congenital, with ptosis and velopharyngeal dysfunction
- p.Asp118= Single submitter
- p.Ser188= No assertion criteria TUBB6-related disorder
- p.Thr312Ala No assertion criteria TUBB6-related disorder
Likely benign 7
Uncertain significance 42
- p.Ala206Val Multiple submitters facial palsy, congenital, with ptosis and velopharyngeal dysfunction ⚠
- p.Ala271Val Single submitter ⚠
- p.Ala332Thr Single submitter ⚠
- p.Arg121Gly Single submitter ⚠
- p.Arg276His Single submitter ⚠
- p.Arg359Cys Single submitter ⚠
- p.Arg391His Single submitter ⚠
- p.Arg77Gln Single submitter
- p.Arg86Gln Single submitter
- p.Asp118Asn Single submitter ⚠
- p.Asp203Asn Single submitter ⚠
- p.Asp295Glu Single submitter ⚠
- p.Asp439Asn Single submitter ⚠
- p.Glu111Asp Single submitter ⚠
- p.Glu125Asp Single submitter facial palsy, congenital, with ptosis and velopharyngeal dysfunction ⚠
- p.Glu194Lys Single submitter ⚠
- p.Glu198Lys Single submitter ⚠
- p.Glu198Val Single submitter ⚠
- p.Glu383Lys Single submitter ⚠
- p.Glu410Lys Single submitter facial palsy, congenital, with ptosis and velopharyngeal dysfunction ⚠
- p.Glu421Lys Single submitter ⚠
- p.Gly109Asp Single submitter ⚠
- p.Gly223Arg Single submitter ⚠
- p.Gly360Asp Single submitter ⚠
- p.Gly96Arg Single submitter ⚠
- p.His105Gln Single submitter ⚠
- p.Ile333Val Single submitter ⚠
- p.Ile444Met Single submitter facial palsy, congenital, with ptosis and velopharyngeal dysfunction ⚠
- p.Leu84Phe Single submitter ⚠
- p.Met170Lys Single submitter ⚠
- p.Phe378Leu Single submitter ⚠
- p.Pro305Leu Single submitter ⚠
- p.Ser322Phe Single submitter ⚠
- p.Ser365Cys Single submitter ⚠
- p.Thr136Met Single submitter
- p.Thr136Ser Single submitter ⚠
- p.Thr149Lys Single submitter ⚠
- p.Val169Ile Single submitter ⚠
- p.Val180Met Single submitter ⚠
- p.Val76Met Single submitter
- p.Arg262His No assertion criteria TUBB6-related disorder ⚠
- p.Val236Asp No assertion criteria TUBB6-related disorder ⚠