POU5F1 — 14 ClinVar variants
All ClinVar germline POU5F1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 12 flagged for review →
2 Likely benign · 12 Uncertain significance
Full POU5F1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 12
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 12
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- POU5F1 p.Ala293Val Uncertain significance Single submitter
- POU5F1 p.Arg201Trp Uncertain significance Single submitter
- POU5F1 p.Arg295Gln Uncertain significance Single submitter
- POU5F1 p.Glu135Lys Uncertain significance Single submitter
- POU5F1 p.Glu296Gln Uncertain significance Single submitter
- POU5F1 p.Glu299Gln Uncertain significance Single submitter
- POU5F1 p.Gly354Ser Uncertain significance Single submitter
- POU5F1 p.Ile220Leu Uncertain significance Single submitter
- POU5F1 p.Pro253Arg Uncertain significance Single submitter
- POU5F1 p.Pro316Ser Uncertain significance Single submitter
- POU5F1 p.Thr118Ile Uncertain significance Single submitter
- POU5F1 p.Tyr292Asn Uncertain significance Single submitter
All POU5F1 variants
Likely benign 2
- p.Pro347Ser Single submitter
- p.Val117Ile Single submitter
Uncertain significance 12
- p.Ala293Val Single submitter ⚠
- p.Arg201Trp Single submitter ⚠
- p.Arg295Gln Single submitter ⚠
- p.Glu135Lys Single submitter ⚠
- p.Glu296Gln Single submitter ⚠
- p.Glu299Gln Single submitter ⚠
- p.Gly354Ser Single submitter ⚠
- p.Ile220Leu Single submitter ⚠
- p.Pro253Arg Single submitter ⚠
- p.Pro316Ser Single submitter ⚠
- p.Thr118Ile Single submitter ⚠
- p.Tyr292Asn Single submitter ⚠