POLR2H — 10 ClinVar variants
All ClinVar germline POLR2H variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 10 flagged for review →
10 Uncertain significance
Full POLR2H gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 10
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 10
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- POLR2H p.Asp23His Uncertain significance Single submitter
- POLR2H p.Asp79Glu Uncertain significance Single submitter
- POLR2H p.Cys30Arg Uncertain significance Single submitter
- POLR2H p.Gly19Asp Uncertain significance Single submitter
- POLR2H p.Leu143Phe Uncertain significance Single submitter
- POLR2H p.Met145Leu Uncertain significance Single submitter
- POLR2H p.Phe88Val Uncertain significance Single submitter
- POLR2H p.Tyr118Phe Uncertain significance Single submitter
- POLR2H p.Val116Met Uncertain significance Single submitter
- POLR2H p.Val137Gly Uncertain significance Single submitter
All POLR2H variants
Uncertain significance 10
- p.Asp23His Single submitter ⚠
- p.Asp79Glu Single submitter ⚠
- p.Cys30Arg Single submitter ⚠
- p.Gly19Asp Single submitter ⚠
- p.Leu143Phe Single submitter ⚠
- p.Met145Leu Single submitter ⚠
- p.Phe88Val Single submitter ⚠
- p.Tyr118Phe Single submitter ⚠
- p.Val116Met Single submitter ⚠
- p.Val137Gly Single submitter ⚠