PSMD11 — 49 ClinVar variants
All ClinVar germline PSMD11 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 40 flagged for review →
2 Pathogenic · 1 Likely pathogenic · 1 Likely benign · 45 Uncertain significance
Full PSMD11 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 40
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.
- PSMD11 p.Ala164Gly Uncertain significance Single submitter
- PSMD11 p.Ala179Ser Uncertain significance Single submitter
- PSMD11 p.Arg278Trp Uncertain significance Single submitter
- PSMD11 p.Arg310Gln Uncertain significance Single submitter
- PSMD11 p.Arg314Trp Uncertain significance Single submitter
- PSMD11 p.Arg87His Uncertain significance Single submitter
- PSMD11 p.Asn182His Uncertain significance Single submitter
- PSMD11 p.Asn198Asp Uncertain significance Single submitter
- PSMD11 p.Asn416Asp Uncertain significance Single submitter
- PSMD11 p.Asn78His Uncertain significance Single submitter
- PSMD11 p.Asp162Gly Uncertain significance Single submitter
- PSMD11 p.Cys289Arg Uncertain significance Single submitter
- PSMD11 p.Glu115Gln Uncertain significance Single submitter
- PSMD11 p.Glu41Gln Uncertain significance Single submitter
- PSMD11 p.Ile216Val Uncertain significance Single submitter
- PSMD11 p.Ile404Thr Uncertain significance Single submitter
- PSMD11 p.Leu111Ile Uncertain significance Single submitter
- PSMD11 p.Leu190Phe Uncertain significance Single submitter
- PSMD11 p.Leu255Ser Uncertain significance Single submitter
- PSMD11 p.Leu335Val Uncertain significance Single submitter
- PSMD11 p.Leu353Val Uncertain significance Single submitter
- PSMD11 p.Ser351Pro Uncertain significance Single submitter
- PSMD11 p.Thr103Ala Uncertain significance Single submitter
- PSMD11 p.Thr140Asn Uncertain significance Single submitter
- PSMD11 p.Thr140Ser Uncertain significance Single submitter
- PSMD11 p.Thr249Ile Uncertain significance Single submitter
- PSMD11 p.Tyr233Asn Uncertain significance Single submitter
- PSMD11 p.Tyr233Cys Uncertain significance Single submitter
- PSMD11 p.Val167Leu Uncertain significance Single submitter
- PSMD11 p.Val393Ile Uncertain significance Single submitter
- PSMD11 p.Val6Ala Uncertain significance Single submitter
Predictors split 9
The independent predictors disagree with each other — read with care.
- PSMD11 p.Ala128Thr Uncertain significance Single submitter
- PSMD11 p.Ala219Thr Uncertain significance Single submitter
- PSMD11 p.Ala247Val Uncertain significance Single submitter
- PSMD11 p.Asp224Asn Uncertain significance Single submitter
- PSMD11 p.Glu115Lys Uncertain significance Single submitter
- PSMD11 p.Ile259Leu Uncertain significance Single submitter
- PSMD11 p.Leu133Met Uncertain significance Single submitter
- PSMD11 p.Leu275Phe Uncertain significance Single submitter
- PSMD11 p.Thr18Ile Uncertain significance Single submitter
All PSMD11 variants
Pathogenic 2
- p.Arg187Ter Single submitter PSMD11-Related Disorders
- c.850-3_850delCAGA No assertion criteria Short stature
Likely pathogenic 1
- p.Thr191Ile Single submitter PSMD11-associated obesity and neurodevelopmental disorder
Likely benign 1
- p.Arg155Gly Single submitter
Uncertain significance 45
- c.643+1G>T Single submitter
- c.644-8A>G Single submitter
- p.Ala128Thr Single submitter ⚠
- p.Ala164Gly Single submitter ⚠
- p.Ala179Ser Single submitter ⚠
- p.Ala219Thr Single submitter ⚠
- p.Ala247Val Single submitter ⚠
- p.Arg278Trp Single submitter ⚠
- p.Arg310Gln Single submitter ⚠
- p.Arg314Trp Single submitter ⚠
- p.Arg74Ter Single submitter
- p.Arg87His Single submitter ⚠
- p.Asn182His Single submitter ⚠
- p.Asn198Asp Single submitter ⚠
- p.Asn416Asp Single submitter ⚠
- p.Asn78His Single submitter ⚠
- p.Asp162Gly Single submitter ⚠
- p.Asp224Asn Single submitter ⚠
- p.Cys289Arg Single submitter ⚠
- p.Gln380fs Single submitter
- p.Glu115Gln Single submitter ⚠
- p.Glu115Lys Single submitter ⚠
- p.Glu398Ter Single submitter
- p.Glu41Gln Single submitter ⚠
- p.Ile216Val Single submitter ⚠
- p.Ile259Leu Single submitter ⚠
- p.Ile404Thr Single submitter ⚠
- p.Leu111Ile Single submitter ⚠
- p.Leu133Met Single submitter ⚠
- p.Leu190Phe Single submitter ⚠
- p.Leu255Ser Single submitter ⚠
- p.Leu275Phe Single submitter ⚠
- p.Leu335Val Single submitter ⚠
- p.Leu353Val Single submitter ⚠
- p.Ser351Pro Single submitter ⚠
- p.Thr103Ala Single submitter ⚠
- p.Thr140Asn Single submitter ⚠
- p.Thr140Ser Single submitter ⚠
- p.Thr18Ile Single submitter ⚠
- p.Thr249Ile Single submitter ⚠
- p.Tyr233Asn Single submitter ⚠
- p.Tyr233Cys Single submitter ⚠
- p.Val167Leu Single submitter ⚠
- p.Val393Ile Single submitter ⚠
- p.Val6Ala Single submitter ⚠