POU2F2 — 54 ClinVar variants
All ClinVar germline POU2F2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 47 flagged for review →
2 Likely benign · 52 Uncertain significance
Full POU2F2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 47
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 42
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- POU2F2 p.Ala184Thr Uncertain significance Single submitter
- POU2F2 p.Ala406Thr Uncertain significance Single submitter
- POU2F2 p.Ala406Val Uncertain significance Single submitter
- POU2F2 p.Arg436Trp Uncertain significance Single submitter
- POU2F2 p.Asn452Ser Uncertain significance Single submitter
- POU2F2 p.Asn485Asp Uncertain significance Single submitter
- POU2F2 p.Asp289Asn Uncertain significance Single submitter
- POU2F2 p.Asp93Asn Uncertain significance Single submitter
- POU2F2 p.Gln403His Uncertain significance Single submitter
- POU2F2 p.Glu18Asp Uncertain significance Single submitter
- POU2F2 p.Glu217Lys Uncertain significance Single submitter
- POU2F2 p.Gly255Arg Uncertain significance Single submitter
- POU2F2 p.His215Gln Uncertain significance Single submitter
- POU2F2 p.His215Pro Uncertain significance Single submitter
- POU2F2 p.His398Tyr Uncertain significance Single submitter
- POU2F2 p.Ile125Val Uncertain significance Single submitter
- POU2F2 p.Leu201Phe Uncertain significance Single submitter
- POU2F2 p.Leu310Pro Uncertain significance Single submitter
- POU2F2 p.Met115Val Uncertain significance Single submitter
- POU2F2 p.Pro104Gln Uncertain significance Single submitter
- POU2F2 p.Pro145Ser Uncertain significance Single submitter
- POU2F2 p.Pro27Leu Uncertain significance Single submitter
- POU2F2 p.Pro379Leu Uncertain significance Single submitter
- POU2F2 p.Pro38Gln Uncertain significance Single submitter
- POU2F2 p.Pro410Leu Uncertain significance Single submitter
- POU2F2 p.Pro410Ser Uncertain significance Single submitter
- POU2F2 p.Pro459Leu Uncertain significance Single submitter
- POU2F2 p.Pro56Ser Uncertain significance Single submitter
- POU2F2 p.Pro96Thr Uncertain significance Single submitter
- POU2F2 p.Ser156Asn Uncertain significance Single submitter
- POU2F2 p.Ser294Ala Uncertain significance Single submitter
- POU2F2 p.Ser477Leu Uncertain significance Single submitter
- POU2F2 p.Ser477Pro Uncertain significance Single submitter
- POU2F2 p.Thr292Ala Uncertain significance Single submitter
- POU2F2 p.Thr431Met Uncertain significance Single submitter
- POU2F2 p.Thr458Ala Uncertain significance Single submitter
- POU2F2 p.Thr464Ile Uncertain significance Single submitter
- POU2F2 p.Thr468Ile Uncertain significance Single submitter
- POU2F2 p.Thr49Ile Uncertain significance Single submitter
- POU2F2 p.Thr57Pro Uncertain significance Single submitter
- POU2F2 p.Tyr254Ser Uncertain significance Single submitter
- POU2F2 p.Val400Ile Uncertain significance Single submitter
Predictors split 5
The independent predictors disagree with each other — read with care.
All POU2F2 variants
Likely benign 2
- p.Ala105Thr Single submitter
- p.Ala448Val Single submitter
Uncertain significance 52
- p.Ala184Thr Single submitter ⚠
- p.Ala406Thr Single submitter ⚠
- p.Ala406Val Single submitter ⚠
- p.Arg436Trp Single submitter ⚠
- p.Asn452Ser Single submitter ⚠
- p.Asn485Asp Single submitter ⚠
- p.Asp289Asn Single submitter ⚠
- p.Asp93Asn Single submitter ⚠
- p.Gln403His Single submitter ⚠
- p.Glu18Asp Single submitter ⚠
- p.Glu20Lys Single submitter
- p.Glu217Lys Single submitter ⚠
- p.Gly255Arg Single submitter ⚠
- p.Gly430Arg Single submitter ⚠
- p.Gly441Cys Single submitter ⚠
- p.Gly483Arg Single submitter ⚠
- p.His215Gln Single submitter ⚠
- p.His215Pro Single submitter ⚠
- p.His398Tyr Single submitter ⚠
- p.Ile125Val Single submitter ⚠
- p.Leu177Pro Single submitter ⚠
- p.Leu201Phe Single submitter ⚠
- p.Leu310Pro Single submitter ⚠
- p.Met115Thr Single submitter
- p.Met115Val Single submitter ⚠
- p.Met293Val Single submitter ⚠
- p.Met399Lys Single submitter
- p.Pro104Gln Single submitter ⚠
- p.Pro145Ser Single submitter ⚠
- p.Pro27Leu Single submitter ⚠
- p.Pro379Leu Single submitter ⚠
- p.Pro38Gln Single submitter ⚠
- p.Pro410Leu Single submitter ⚠
- p.Pro410Ser Single submitter ⚠
- p.Pro455Leu Single submitter
- p.Pro459Leu Single submitter ⚠
- p.Pro56Ser Single submitter ⚠
- p.Pro96Thr Single submitter ⚠
- p.Ser156Asn Single submitter ⚠
- p.Ser294Ala Single submitter ⚠
- p.Ser477Leu Single submitter ⚠
- p.Ser477Pro Single submitter ⚠
- p.Thr292Ala Single submitter ⚠
- p.Thr292Ile Single submitter
- p.Thr431Met Single submitter ⚠
- p.Thr458Ala Single submitter ⚠
- p.Thr464Ile Single submitter ⚠
- p.Thr468Ile Single submitter ⚠
- p.Thr49Ile Single submitter ⚠
- p.Thr57Pro Single submitter ⚠
- p.Tyr254Ser Single submitter ⚠
- p.Val400Ile Single submitter ⚠