PSMD13 — 39 ClinVar variants
All ClinVar germline PSMD13 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 28 flagged for review →
1 Benign · 2 Likely benign · 36 Uncertain significance
Full PSMD13 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 28
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 20
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PSMD13 p.Arg101His Uncertain significance Single submitter
- PSMD13 p.Arg178Trp Uncertain significance Single submitter
- PSMD13 p.Arg226Lys Uncertain significance Single submitter
- PSMD13 p.Arg230Gln Uncertain significance Single submitter
- PSMD13 p.Arg352His Uncertain significance Single submitter
- PSMD13 p.Asn144Ser Uncertain significance Single submitter
- PSMD13 p.Asn264Lys Uncertain significance Single submitter
- PSMD13 p.Asn91His Uncertain significance Single submitter
- PSMD13 p.Gln337Arg Uncertain significance Single submitter
- PSMD13 p.Gln344Arg Uncertain significance Single submitter
- PSMD13 p.Glu208Lys Uncertain significance Single submitter
- PSMD13 p.Gly126Arg Uncertain significance Single submitter
- PSMD13 p.Gly207Asp Uncertain significance Single submitter
- PSMD13 p.His369Asn Uncertain significance Single submitter
- PSMD13 p.Ile125Val Uncertain significance Single submitter
- PSMD13 p.Ile135Val Uncertain significance Single submitter
- PSMD13 p.Lys174Glu Uncertain significance Single submitter
- PSMD13 p.Pro338Leu Uncertain significance Single submitter
- PSMD13 p.Thr95Ser Uncertain significance Single submitter
- PSMD13 p.Val130Ala Uncertain significance Single submitter
Predictors split 8
The independent predictors disagree with each other — read with care.
- PSMD13 p.Arg154His Uncertain significance Single submitter
- PSMD13 p.Met218Ile Uncertain significance Single submitter
- PSMD13 p.Met278Val Uncertain significance Single submitter
- PSMD13 p.Phe155Leu Uncertain significance Single submitter
- PSMD13 p.Phe179Val Uncertain significance Single submitter
- PSMD13 p.Pro259Arg Uncertain significance Single submitter
- PSMD13 p.Tyr156Cys Uncertain significance Single submitter
- PSMD13 p.Val148Met Uncertain significance Single submitter
All PSMD13 variants
Benign 1
- c.-20C>T Single submitter
Uncertain significance 36
- c.209+16C>A Single submitter
- c.209+18G>A Single submitter
- c.209+42A>C Single submitter
- c.209+43T>C Single submitter
- c.310-1G>A Single submitter
- c.397-1G>C Single submitter
- p.Arg101His Single submitter ⚠
- p.Arg154His Single submitter ⚠
- p.Arg178Trp Single submitter ⚠
- p.Arg226Lys Single submitter ⚠
- p.Arg230Gln Single submitter ⚠
- p.Arg352His Single submitter ⚠
- p.Asn144Ser Single submitter ⚠
- p.Asn264Lys Single submitter ⚠
- p.Asn91His Single submitter ⚠
- p.Gln337Arg Single submitter ⚠
- p.Gln344Arg Single submitter ⚠
- p.Glu102Val Single submitter
- p.Glu208Lys Single submitter ⚠
- p.Glu68= Single submitter
- p.Gly126Arg Single submitter ⚠
- p.Gly207Asp Single submitter ⚠
- p.His369Asn Single submitter ⚠
- p.Ile125Val Single submitter ⚠
- p.Ile135Val Single submitter ⚠
- p.Lys174Glu Single submitter ⚠
- p.Met218Ile Single submitter ⚠
- p.Met278Val Single submitter ⚠
- p.Phe155Leu Single submitter ⚠
- p.Phe179Val Single submitter ⚠
- p.Pro259Arg Single submitter ⚠
- p.Pro338Leu Single submitter ⚠
- p.Thr95Ser Single submitter ⚠
- p.Tyr156Cys Single submitter ⚠
- p.Val130Ala Single submitter ⚠
- p.Val148Met Single submitter ⚠