PSMD2 — 80 ClinVar variants
All ClinVar germline PSMD2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 76 flagged for review →
1 Likely benign · 79 Uncertain significance
Full PSMD2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 76
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 53
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PSMD2 p.Ala197Ser Uncertain significance Single submitter
- PSMD2 p.Ala227Thr Uncertain significance Single submitter
- PSMD2 p.Ala642Thr Uncertain significance Single submitter
- PSMD2 p.Ala644Thr Uncertain significance Single submitter
- PSMD2 p.Ala648Gly Uncertain significance Single submitter
- PSMD2 p.Ala880Thr Uncertain significance Single submitter
- PSMD2 p.Arg100Cys Uncertain significance Single submitter
- PSMD2 p.Arg120His Uncertain significance Single submitter
- PSMD2 p.Arg181Gln Uncertain significance Single submitter
- PSMD2 p.Arg257Pro Uncertain significance Single submitter
- PSMD2 p.Arg456Trp Uncertain significance Single submitter
- PSMD2 p.Arg478Gly Uncertain significance Single submitter
- PSMD2 p.Arg763Leu Uncertain significance Single submitter
- PSMD2 p.Arg785Gln Uncertain significance Single submitter
- PSMD2 p.Arg785Trp Uncertain significance Single submitter
- PSMD2 p.Asn565Ser Uncertain significance Single submitter
- PSMD2 p.Asn905Ser Uncertain significance Single submitter
- PSMD2 p.Asp206Tyr Uncertain significance Single submitter
- PSMD2 p.Asp40Asn Uncertain significance Single submitter
- PSMD2 p.Asp438Glu Uncertain significance Single submitter
- PSMD2 p.Cys530Tyr Uncertain significance Single submitter
- PSMD2 p.Glu111Lys Uncertain significance Single submitter
- PSMD2 p.Glu117Lys Uncertain significance Single submitter
- PSMD2 p.Glu223Val Uncertain significance Single submitter
- PSMD2 p.Glu354Asp Uncertain significance Single submitter
- PSMD2 p.Glu618Lys Uncertain significance Single submitter
- PSMD2 p.Gly104Ser Uncertain significance Single submitter
- PSMD2 p.Gly37Glu Uncertain significance Single submitter
- PSMD2 p.Gly4Arg Uncertain significance Single submitter
- PSMD2 p.Gly64Glu Uncertain significance Single submitter
- PSMD2 p.Gly656Ala Uncertain significance Single submitter
- PSMD2 p.Ile109Val Uncertain significance Single submitter
- PSMD2 p.Ile538Thr Uncertain significance Single submitter
- PSMD2 p.Leu129Ser Uncertain significance Single submitter
- PSMD2 p.Leu248Val Uncertain significance Single submitter
- PSMD2 p.Leu391Gln Uncertain significance Single submitter
- PSMD2 p.Leu498Val Uncertain significance Single submitter
- PSMD2 p.Leu655Val Uncertain significance Single submitter
- PSMD2 p.Leu837Val Uncertain significance Single submitter
- PSMD2 p.Lys27Glu Uncertain significance Single submitter
- PSMD2 p.Lys569Arg Uncertain significance Single submitter
- PSMD2 p.Met113Val Uncertain significance Single submitter
- PSMD2 p.Met133Val Uncertain significance Single submitter
- PSMD2 p.Met275Thr Uncertain significance Single submitter
- PSMD2 p.Pro719Ser Uncertain significance Single submitter
- PSMD2 p.Ser29Arg Uncertain significance Single submitter
- PSMD2 p.Thr777Pro Uncertain significance Single submitter
- PSMD2 p.Thr832Met Uncertain significance Single submitter
- PSMD2 p.Val128Ile Uncertain significance Single submitter
- PSMD2 p.Val289Ala Uncertain significance Single submitter
- PSMD2 p.Val303Ala Uncertain significance Single submitter
- PSMD2 p.Val793Leu Uncertain significance Single submitter
- PSMD2 p.Val799Leu Uncertain significance Single submitter
Predictors split 23
The independent predictors disagree with each other — read with care.
- PSMD2 p.Ala269Thr Uncertain significance Single submitter
- PSMD2 p.Ala412Ser Uncertain significance Single submitter
- PSMD2 p.Arg120Cys Uncertain significance Single submitter
- PSMD2 p.Arg456Gln Uncertain significance Single submitter
- PSMD2 p.Arg83Cys Uncertain significance Single submitter
- PSMD2 p.Asn323Asp Uncertain significance Single submitter
- PSMD2 p.Asp533Tyr Uncertain significance Single submitter
- PSMD2 p.Asp805Gly Uncertain significance Single submitter
- PSMD2 p.Glu212Gly Uncertain significance Single submitter
- PSMD2 p.Glu76Ala Uncertain significance Single submitter
- PSMD2 p.Gly146Val Uncertain significance Single submitter
- PSMD2 p.Leu353Val Uncertain significance Single submitter
- PSMD2 p.Leu741Val Uncertain significance Single submitter
- PSMD2 p.Met370Ile Uncertain significance Single submitter
- PSMD2 p.Met524Ile Uncertain significance Single submitter
- PSMD2 p.Met788Arg Uncertain significance Single submitter
- PSMD2 p.Met825Val Uncertain significance Single submitter
- PSMD2 p.Ser546Leu Uncertain significance Single submitter
- PSMD2 p.Ser617Thr Uncertain significance Single submitter
- PSMD2 p.Thr553Ile Uncertain significance Single submitter
- PSMD2 p.Thr863Ala Uncertain significance Single submitter
- PSMD2 p.Tyr194Cys Uncertain significance Single submitter
- PSMD2 p.Tyr816His Uncertain significance Single submitter
All PSMD2 variants
Likely benign 1
- p.Val732= Single submitter
Uncertain significance 79
- p.Ala197Ser Single submitter ⚠
- p.Ala227Thr Single submitter ⚠
- p.Ala269Thr Single submitter ⚠
- p.Ala412Ser Single submitter ⚠
- p.Ala642Thr Single submitter ⚠
- p.Ala644Thr Single submitter ⚠
- p.Ala648Gly Single submitter ⚠
- p.Ala880Thr Single submitter ⚠
- p.Arg100Cys Single submitter ⚠
- p.Arg120Cys Single submitter ⚠
- p.Arg120His Single submitter ⚠
- p.Arg181Gln Single submitter ⚠
- p.Arg257Pro Single submitter ⚠
- p.Arg300Gln Single submitter
- p.Arg456Gln Single submitter ⚠
- p.Arg456Trp Single submitter ⚠
- p.Arg478Gly Single submitter ⚠
- p.Arg763Leu Single submitter ⚠
- p.Arg785Gln Single submitter ⚠
- p.Arg785Trp Single submitter ⚠
- p.Arg83Cys Single submitter ⚠
- p.Asn323Asp Single submitter ⚠
- p.Asn565Ser Single submitter ⚠
- p.Asn905Ser Single submitter ⚠
- p.Asp206Tyr Single submitter ⚠
- p.Asp40Asn Single submitter ⚠
- p.Asp438Glu Single submitter ⚠
- p.Asp533Tyr Single submitter ⚠
- p.Asp805Gly Single submitter ⚠
- p.Cys530Tyr Single submitter ⚠
- p.Glu111Lys Single submitter ⚠
- p.Glu117Lys Single submitter ⚠
- p.Glu212Gly Single submitter ⚠
- p.Glu223Val Single submitter ⚠
- p.Glu354Asp Single submitter ⚠
- p.Glu618Lys Single submitter ⚠
- p.Glu76Ala Single submitter ⚠
- p.Gly104Ser Single submitter ⚠
- p.Gly146Val Single submitter ⚠
- p.Gly37Glu Single submitter ⚠
- p.Gly4Arg Single submitter ⚠
- p.Gly64Glu Single submitter ⚠
- p.Gly656Ala Single submitter ⚠
- p.Ile109Val Single submitter ⚠
- p.Ile538Thr Single submitter ⚠
- p.Leu129Ser Single submitter ⚠
- p.Leu187Val Single submitter
- p.Leu248Val Single submitter ⚠
- p.Leu353Val Single submitter ⚠
- p.Leu391Gln Single submitter ⚠
- p.Leu498Val Single submitter ⚠
- p.Leu655Val Single submitter ⚠
- p.Leu741Val Single submitter ⚠
- p.Leu837Val Single submitter ⚠
- p.Lys27Glu Single submitter ⚠
- p.Lys569Arg Single submitter ⚠
- p.Met113Val Single submitter ⚠
- p.Met133Val Single submitter ⚠
- p.Met275Thr Single submitter ⚠
- p.Met370Ile Single submitter ⚠
- p.Met524Ile Single submitter ⚠
- p.Met524Val Single submitter
- p.Met788Arg Single submitter ⚠
- p.Met825Val Single submitter ⚠
- p.Pro719Ser Single submitter ⚠
- p.Ser29Arg Single submitter ⚠
- p.Ser546Leu Single submitter ⚠
- p.Ser617Thr Single submitter ⚠
- p.Thr553Ile Single submitter ⚠
- p.Thr777Pro Single submitter ⚠
- p.Thr832Met Single submitter ⚠
- p.Thr863Ala Single submitter ⚠
- p.Tyr194Cys Single submitter ⚠
- p.Tyr816His Single submitter ⚠
- p.Val128Ile Single submitter ⚠
- p.Val289Ala Single submitter ⚠
- p.Val303Ala Single submitter ⚠
- p.Val793Leu Single submitter ⚠
- p.Val799Leu Single submitter ⚠