POU2F1 — 69 ClinVar variants
All ClinVar germline POU2F1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 56 flagged for review →
3 Benign · 3 Likely benign · 63 Uncertain significance
Full POU2F1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 56
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 44
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- POU2F1 p.Ala335Thr Uncertain significance Single submitter
- POU2F1 p.Ala560Val Uncertain significance Single submitter
- POU2F1 p.Ala563Ser Uncertain significance Single submitter
- POU2F1 p.Ala690Thr Uncertain significance Single submitter
- POU2F1 p.Ala719Thr Uncertain significance Single submitter
- POU2F1 p.Ala720Thr Uncertain significance Single submitter
- POU2F1 p.Ala755Pro Uncertain significance Single submitter
- POU2F1 p.Ala762Thr Uncertain significance Single submitter
- POU2F1 p.Arg296Gln Uncertain significance Single submitter
- POU2F1 p.Arg406Leu Uncertain significance Single submitter
- POU2F1 p.Arg414His Uncertain significance Single submitter
- POU2F1 p.Asn452Lys Uncertain significance Single submitter
- POU2F1 p.Asp103Tyr Uncertain significance Single submitter
- POU2F1 p.Asp39Asn Uncertain significance Single submitter
- POU2F1 p.Gln89Glu Uncertain significance Single submitter
- POU2F1 p.Glu377Gly Uncertain significance Single submitter
- POU2F1 p.Gly754Arg Uncertain significance Single submitter
- POU2F1 p.Ile193Leu Uncertain significance Single submitter
- POU2F1 p.Ile195Met Uncertain significance Single submitter
- POU2F1 p.Ile230Val Uncertain significance Single submitter
- POU2F1 p.Ile279Met Uncertain significance Single submitter
- POU2F1 p.Ile396Val Uncertain significance Single submitter
- POU2F1 p.Ile473Met Uncertain significance Single submitter
- POU2F1 p.Ile673Val Uncertain significance Single submitter
- POU2F1 p.Ile693Met Uncertain significance Single submitter
- POU2F1 p.Leu241Val Uncertain significance Single submitter
- POU2F1 p.Leu715Phe Uncertain significance Single submitter
- POU2F1 p.Pro226Ser Uncertain significance Single submitter
- POU2F1 p.Pro272Ala Uncertain significance Single submitter
- POU2F1 p.Pro300Ser Uncertain significance Single submitter
- POU2F1 p.Pro579Leu Uncertain significance Single submitter
- POU2F1 p.Ser104Leu Uncertain significance Single submitter
- POU2F1 p.Ser177Thr Uncertain significance Single submitter
- POU2F1 p.Ser717Cys Uncertain significance Single submitter
- POU2F1 p.Ser726Pro Uncertain significance Single submitter
- POU2F1 p.Thr123Ala Uncertain significance Single submitter
- POU2F1 p.Thr221Ala Uncertain significance Single submitter
- POU2F1 p.Thr249Met Uncertain significance Single submitter
- POU2F1 p.Thr282Ile Uncertain significance Single submitter
- POU2F1 p.Thr498Ala Uncertain significance Single submitter
- POU2F1 p.Thr518Ile Uncertain significance Single submitter
- POU2F1 p.Thr557Ile Uncertain significance Single submitter
- POU2F1 p.Val531Met Uncertain significance Single submitter
- POU2F1 p.Val713Ile Uncertain significance Single submitter
Predictors split 12
The independent predictors disagree with each other — read with care.
- POU2F1 p.Ala678Val Uncertain significance Single submitter
- POU2F1 p.Asp677Gly Uncertain significance Single submitter
- POU2F1 p.Ile532Thr Uncertain significance Single submitter
- POU2F1 p.Leu71Pro Uncertain significance Single submitter
- POU2F1 p.Pro697Ser Uncertain significance Single submitter
- POU2F1 p.Ser393Cys Uncertain significance Single submitter
- POU2F1 p.Ser561Phe Uncertain significance Single submitter
- POU2F1 p.Ser670Cys Uncertain significance Single submitter
- POU2F1 p.Ser741Phe Uncertain significance Single submitter
- POU2F1 p.Ser95Phe Uncertain significance Single submitter
- POU2F1 p.Ser97Phe Uncertain significance Single submitter
- POU2F1 p.Thr543Met Uncertain significance Single submitter
All POU2F1 variants
Benign 3
- c.282+10G>A Single submitter
- p.Thr276Ala Single submitter
- p.Val93= Single submitter
Likely benign 3
- p.Ser745Pro Multiple submitters
- p.Asn41Ser Single submitter
- p.Ser164= Single submitter
Uncertain significance 63
- p.Ala335Thr Single submitter ⚠
- p.Ala560Val Single submitter ⚠
- p.Ala563Ser Single submitter ⚠
- p.Ala678Val Single submitter ⚠
- p.Ala690Thr Single submitter ⚠
- p.Ala719Thr Single submitter ⚠
- p.Ala720Thr Single submitter ⚠
- p.Ala755Pro Single submitter ⚠
- p.Ala762Thr Single submitter ⚠
- p.Ala7Pro Single submitter
- p.Arg296Gln Single submitter ⚠
- p.Arg406Leu Single submitter ⚠
- p.Arg414His Single submitter ⚠
- p.Asn452Lys Single submitter ⚠
- p.Asp103Tyr Single submitter ⚠
- p.Asp21Gly Single submitter
- p.Asp39Asn Single submitter ⚠
- p.Asp677Gly Single submitter ⚠
- p.Gln186His Single submitter
- p.Gln89Glu Single submitter ⚠
- p.Glu377Gly Single submitter ⚠
- p.Gly754Arg Single submitter ⚠
- p.Ile193Leu Single submitter ⚠
- p.Ile195Met Single submitter ⚠
- p.Ile230Val Single submitter ⚠
- p.Ile279Met Single submitter ⚠
- p.Ile396Val Single submitter ⚠
- p.Ile473Met Single submitter ⚠
- p.Ile532Thr Single submitter ⚠
- p.Ile673Val Single submitter ⚠
- p.Ile693Met Single submitter ⚠
- p.Leu241Val Single submitter ⚠
- p.Leu715Phe Single submitter ⚠
- p.Leu71Pro Single submitter ⚠
- p.Pro226Ser Single submitter ⚠
- p.Pro272Ala Single submitter ⚠
- p.Pro300Ser Single submitter ⚠
- p.Pro579Leu Single submitter ⚠
- p.Pro697Ser Single submitter ⚠
- p.Pro702Ser Single submitter
- p.Ser104Leu Single submitter ⚠
- p.Ser177Thr Single submitter ⚠
- p.Ser393Cys Single submitter ⚠
- p.Ser561Phe Single submitter ⚠
- p.Ser670Cys Single submitter ⚠
- p.Ser717Cys Single submitter ⚠
- p.Ser726Pro Single submitter ⚠
- p.Ser741Phe Single submitter ⚠
- p.Ser8Arg Single submitter
- p.Ser95Phe Single submitter ⚠
- p.Ser97Phe Single submitter ⚠
- p.Thr123Ala Single submitter ⚠
- p.Thr221Ala Single submitter ⚠
- p.Thr249Met Single submitter ⚠
- p.Thr276Arg Single submitter
- p.Thr282Ile Single submitter ⚠
- p.Thr498Ala Single submitter ⚠
- p.Thr518Ile Single submitter ⚠
- p.Thr543Met Single submitter ⚠
- p.Thr557Ile Single submitter ⚠
- p.Thr758Ile Single submitter
- p.Val531Met Single submitter ⚠
- p.Val713Ile Single submitter ⚠