POU5F2 — 38 ClinVar variants
All ClinVar germline POU5F2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 32 flagged for review →
4 Likely benign · 34 Uncertain significance
Full POU5F2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 32
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 31
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- POU5F2 p.Ala150Thr Uncertain significance Single submitter
- POU5F2 p.Ala153Thr Uncertain significance Single submitter
- POU5F2 p.Ala193Val Uncertain significance Single submitter
- POU5F2 p.Ala320Val Uncertain significance Single submitter
- POU5F2 p.Ala39Val Uncertain significance Single submitter
- POU5F2 p.Ala99Ser Uncertain significance Single submitter
- POU5F2 p.Arg108Pro Uncertain significance Single submitter
- POU5F2 p.Arg219Gln Uncertain significance Single submitter
- POU5F2 p.Arg220Gln Uncertain significance Single submitter
- POU5F2 p.Arg94Cys Uncertain significance Single submitter
- POU5F2 p.Arg94His Uncertain significance Single submitter
- POU5F2 p.Asn8Lys Uncertain significance Single submitter
- POU5F2 p.Asp59Gly Uncertain significance Single submitter
- POU5F2 p.Asp90Gly Uncertain significance Single submitter
- POU5F2 p.Gln208His Uncertain significance Single submitter
- POU5F2 p.Glu194Gly Uncertain significance Single submitter
- POU5F2 p.Gly282Trp Uncertain significance Single submitter
- POU5F2 p.Gly312Arg Uncertain significance Single submitter
- POU5F2 p.Gly42Ser Uncertain significance Single submitter
- POU5F2 p.Leu180Val Uncertain significance Single submitter
- POU5F2 p.Leu68Arg Uncertain significance Single submitter
- POU5F2 p.Met25Leu Uncertain significance Single submitter
- POU5F2 p.Met264Val Uncertain significance Single submitter
- POU5F2 p.Pro12Thr Uncertain significance Single submitter
- POU5F2 p.Pro14Thr Uncertain significance Single submitter
- POU5F2 p.Pro284Arg Uncertain significance Single submitter
- POU5F2 p.Pro303Arg Uncertain significance Single submitter
- POU5F2 p.Pro48Leu Uncertain significance Single submitter
- POU5F2 p.Pro69Thr Uncertain significance Single submitter
- POU5F2 p.Ser160Arg Uncertain significance Single submitter
- POU5F2 p.Val290Leu Uncertain significance Single submitter
Predictors split 1
The independent predictors disagree with each other — read with care.
All POU5F2 variants
Likely benign 4
- p.Cys285Phe Single submitter
- p.Gly66Ala Single submitter
- p.Ile164Val Single submitter
- p.Pro64Ser Single submitter
Uncertain significance 34
- p.Ala150Thr Single submitter ⚠
- p.Ala153Thr Single submitter ⚠
- p.Ala193Val Single submitter ⚠
- p.Ala320Val Single submitter ⚠
- p.Ala39Val Single submitter ⚠
- p.Ala99Ser Single submitter ⚠
- p.Arg108Pro Single submitter ⚠
- p.Arg219Gln Single submitter ⚠
- p.Arg220Gln Single submitter ⚠
- p.Arg220Pro Single submitter
- p.Arg94Cys Single submitter ⚠
- p.Arg94His Single submitter ⚠
- p.Asn8Lys Single submitter ⚠
- p.Asp59Gly Single submitter ⚠
- p.Asp90Gly Single submitter ⚠
- p.Gln208His Single submitter ⚠
- p.Glu194Gly Single submitter ⚠
- p.Gly282Trp Single submitter ⚠
- p.Gly312Arg Single submitter ⚠
- p.Gly42Ser Single submitter ⚠
- p.Leu180Val Single submitter ⚠
- p.Leu68Arg Single submitter ⚠
- p.Met25Leu Single submitter ⚠
- p.Met264Val Single submitter ⚠
- p.Pro12Thr Single submitter ⚠
- p.Pro14Thr Single submitter ⚠
- p.Pro284Arg Single submitter ⚠
- p.Pro303Arg Single submitter ⚠
- p.Pro48Leu Single submitter ⚠
- p.Pro69Thr Single submitter ⚠
- p.Ser143Leu Single submitter
- p.Ser160Arg Single submitter ⚠
- p.Tyr142Cys Single submitter ⚠
- p.Val290Leu Single submitter ⚠