POLR2B — 47 ClinVar variants
All ClinVar germline POLR2B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 42 flagged for review →
1 Likely pathogenic · 1 Likely benign · 45 Uncertain significance
Full POLR2B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 42
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 33
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- POLR2B p.Ala560Val Uncertain significance Single submitter
- POLR2B p.Ala62Thr Uncertain significance Single submitter
- POLR2B p.Ala74Val Uncertain significance Single submitter
- POLR2B p.Arg1141Cys Uncertain significance Single submitter
- POLR2B p.Arg1141His Uncertain significance Single submitter
- POLR2B p.Arg1150Gln Uncertain significance Single submitter
- POLR2B p.Arg157Trp Uncertain significance Single submitter
- POLR2B p.Arg379Gly Uncertain significance Single submitter
- POLR2B p.Arg416Trp Uncertain significance Single submitter
- POLR2B p.Arg438Trp Uncertain significance Single submitter
- POLR2B p.Arg924His Uncertain significance Single submitter
- POLR2B p.Arg950Lys Uncertain significance Single submitter
- POLR2B p.Asp579Val Uncertain significance Single submitter
- POLR2B p.Cys696Arg Uncertain significance Single submitter
- POLR2B p.Cys919Tyr Uncertain significance Single submitter
- POLR2B p.Gln143His Uncertain significance Single submitter
- POLR2B p.Gln68Glu Uncertain significance Single submitter
- POLR2B p.Gln790Glu Uncertain significance Single submitter
- POLR2B p.Gly1077Ser Uncertain significance Single submitter
- POLR2B p.Gly535Ala Uncertain significance Single submitter
- POLR2B p.Ile149Val Uncertain significance Single submitter
- POLR2B p.Ile710Val Uncertain significance Single submitter
- POLR2B p.Ile779Val Uncertain significance Single submitter
- POLR2B p.Ile961Val Uncertain significance Single submitter
- POLR2B p.Ile978Val Uncertain significance Single submitter
- POLR2B p.Leu751Phe Uncertain significance Single submitter
- POLR2B p.Lys637Arg Uncertain significance Single submitter
- POLR2B p.Met1054Val Uncertain significance Single submitter
- POLR2B p.Met8Val Uncertain significance Single submitter
- POLR2B p.Pro19Leu Uncertain significance Single submitter
- POLR2B p.Pro81Leu Uncertain significance Single submitter
- POLR2B p.Thr331Ser Uncertain significance Single submitter
- POLR2B p.Val369Phe Uncertain significance Single submitter
Predictors split 9
The independent predictors disagree with each other — read with care.
- POLR2B p.Arg157Gln Uncertain significance Single submitter
- POLR2B p.Arg463Ile Uncertain significance Single submitter
- POLR2B p.Arg483Cys Uncertain significance Single submitter
- POLR2B p.His460Pro Uncertain significance Single submitter
- POLR2B p.Ile556Thr Uncertain significance Single submitter
- POLR2B p.Met744Ile Uncertain significance Single submitter
- POLR2B p.Pro1169Ser Uncertain significance Single submitter
- POLR2B p.Thr870Ile Uncertain significance Single submitter
- POLR2B p.Tyr531Phe Uncertain significance Single submitter
All POLR2B variants
Likely pathogenic 1
- p.Ala708Val No assertion criteria esophageal atresia/tracheoesophageal fistula
Likely benign 1
- p.Ala559= Single submitter
Uncertain significance 45
- p.Ala308Gly Single submitter
- p.Ala560Val Single submitter ⚠
- p.Ala62Thr Single submitter ⚠
- p.Ala74Val Single submitter ⚠
- p.Arg1141Cys Single submitter ⚠
- p.Arg1141His Single submitter ⚠
- p.Arg1150Gln Single submitter ⚠
- p.Arg157Gln Single submitter ⚠
- p.Arg157Trp Single submitter ⚠
- p.Arg379Gly Single submitter ⚠
- p.Arg416Trp Single submitter ⚠
- p.Arg438Trp Single submitter ⚠
- p.Arg463Ile Single submitter ⚠
- p.Arg483Cys Single submitter ⚠
- p.Arg924His Single submitter ⚠
- p.Arg950Lys Single submitter ⚠
- p.Asp579Val Single submitter ⚠
- p.Cys696Arg Single submitter ⚠
- p.Cys919Tyr Single submitter ⚠
- p.Gln143His Single submitter ⚠
- p.Gln68Glu Single submitter ⚠
- p.Gln790Glu Single submitter ⚠
- p.Gly1077Ser Single submitter ⚠
- p.Gly535Ala Single submitter ⚠
- p.His460Pro Single submitter ⚠
- p.Ile149Val Single submitter ⚠
- p.Ile556Thr Single submitter ⚠
- p.Ile710Val Single submitter ⚠
- p.Ile779Val Single submitter ⚠
- p.Ile866Met Single submitter
- p.Ile961Val Single submitter ⚠
- p.Ile978Val Single submitter ⚠
- p.Leu751Phe Single submitter ⚠
- p.Leu873Phe Single submitter
- p.Lys637Arg Single submitter ⚠
- p.Met1054Val Single submitter ⚠
- p.Met744Ile Single submitter ⚠
- p.Met8Val Single submitter ⚠
- p.Pro1169Ser Single submitter ⚠
- p.Pro19Leu Single submitter ⚠
- p.Pro81Leu Single submitter ⚠
- p.Thr331Ser Single submitter ⚠
- p.Thr870Ile Single submitter ⚠
- p.Tyr531Phe Single submitter ⚠
- p.Val369Phe Single submitter ⚠