PSMD5 — 61 ClinVar variants
All ClinVar germline PSMD5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 56 flagged for review →
2 Likely benign · 59 Uncertain significance
Full PSMD5 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 49
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PSMD5 p.Ala145Pro Uncertain significance Single submitter
- PSMD5 p.Ala260Ser Uncertain significance Single submitter
- PSMD5 p.Ala281Ser Uncertain significance Single submitter
- PSMD5 p.Ala281Val Uncertain significance Single submitter
- PSMD5 p.Arg292His Uncertain significance Single submitter
- PSMD5 p.Arg341Cys Uncertain significance Single submitter
- PSMD5 p.Arg341His Uncertain significance Single submitter
- PSMD5 p.Arg382Ser Uncertain significance Single submitter
- PSMD5 p.Arg400Cys Uncertain significance Single submitter
- PSMD5 p.Arg444Trp Uncertain significance Single submitter
- PSMD5 p.Arg480Lys Uncertain significance Single submitter
- PSMD5 p.Arg82Gln Uncertain significance Single submitter
- PSMD5 p.Arg82Leu Uncertain significance Single submitter
- PSMD5 p.Arg85Ser Uncertain significance Single submitter
- PSMD5 p.Asn138Thr Uncertain significance Single submitter
- PSMD5 p.Asn166Ser Uncertain significance Single submitter
- PSMD5 p.Asn352His Uncertain significance Single submitter
- PSMD5 p.Asp96His Uncertain significance Single submitter
- PSMD5 p.Gln333Arg Uncertain significance Single submitter
- PSMD5 p.Glu112Lys Uncertain significance Single submitter
- PSMD5 p.Glu471Ala Uncertain significance Single submitter
- PSMD5 p.Gly401Ala Uncertain significance Single submitter
- PSMD5 p.His411Leu Uncertain significance Single submitter
- PSMD5 p.Ile134Thr Uncertain significance Single submitter
- PSMD5 p.Ile228Arg Uncertain significance Single submitter
- PSMD5 p.Ile253Ser Uncertain significance Single submitter
- PSMD5 p.Leu139Val Uncertain significance Single submitter
- PSMD5 p.Leu368Ile Uncertain significance Single submitter
- PSMD5 p.Leu459Ile Uncertain significance Single submitter
- PSMD5 p.Leu481His Uncertain significance Single submitter
- PSMD5 p.Lys450Arg Uncertain significance Single submitter
- PSMD5 p.Lys456Arg Uncertain significance Single submitter
- PSMD5 p.Lys456Ile Uncertain significance Single submitter
- PSMD5 p.Met344Ile Uncertain significance Single submitter
- PSMD5 p.Met344Thr Uncertain significance Single submitter
- PSMD5 p.Ser267Thr Uncertain significance Single submitter
- PSMD5 p.Ser367Cys Uncertain significance Single submitter
- PSMD5 p.Ser367Phe Uncertain significance Single submitter
- PSMD5 p.Ser390Phe Uncertain significance Single submitter
- PSMD5 p.Ser403Asn Uncertain significance Single submitter
- PSMD5 p.Thr210Ser Uncertain significance Single submitter
- PSMD5 p.Thr217Asn Uncertain significance Single submitter
- PSMD5 p.Tyr491Asp Uncertain significance Single submitter
- PSMD5 p.Val181Ala Uncertain significance Single submitter
- PSMD5 p.Val185Leu Uncertain significance Single submitter
- PSMD5 p.Val195Met Uncertain significance Single submitter
- PSMD5 p.Val223Ile Uncertain significance Single submitter
- PSMD5 p.Val326Ala Uncertain significance Single submitter
- PSMD5 p.Val441Ala Uncertain significance Single submitter
Predictors split 7
The independent predictors disagree with each other — read with care.
- PSMD5 p.Ala427Thr Uncertain significance Single submitter
- PSMD5 p.Arg82Trp Uncertain significance Single submitter
- PSMD5 p.Gly436Arg Uncertain significance Single submitter
- PSMD5 p.Ile190Arg Uncertain significance Single submitter
- PSMD5 p.Phe265Leu Uncertain significance Single submitter
- PSMD5 p.Phe473Ser Uncertain significance Single submitter
- PSMD5 p.Tyr269Cys Uncertain significance Single submitter
All PSMD5 variants
Likely benign 2
- p.Ile295Val Single submitter
- p.Pro354Ser Single submitter
Uncertain significance 59
- p.Ala145Pro Single submitter ⚠
- p.Ala260Ser Single submitter ⚠
- p.Ala281Ser Single submitter ⚠
- p.Ala281Val Single submitter ⚠
- p.Ala427Thr Single submitter ⚠
- p.Arg292His Single submitter ⚠
- p.Arg341Cys Single submitter ⚠
- p.Arg341His Single submitter ⚠
- p.Arg382Ser Single submitter ⚠
- p.Arg400Cys Single submitter ⚠
- p.Arg444Trp Single submitter ⚠
- p.Arg480Lys Single submitter ⚠
- p.Arg82Gln Single submitter ⚠
- p.Arg82Leu Single submitter ⚠
- p.Arg82Trp Single submitter ⚠
- p.Arg85Ser Single submitter ⚠
- p.Asn138Thr Single submitter ⚠
- p.Asn166Ser Single submitter ⚠
- p.Asn352His Single submitter ⚠
- p.Asp96His Single submitter ⚠
- p.Gln333Arg Single submitter ⚠
- p.Glu112Lys Single submitter ⚠
- p.Glu471Ala Single submitter ⚠
- p.Gly401Ala Single submitter ⚠
- p.Gly436Arg Single submitter ⚠
- p.His411Leu Single submitter ⚠
- p.Ile134Thr Single submitter ⚠
- p.Ile190Arg Single submitter ⚠
- p.Ile228Arg Single submitter ⚠
- p.Ile253Ser Single submitter ⚠
- p.Ile257Thr Single submitter
- p.Leu139Val Single submitter ⚠
- p.Leu368Ile Single submitter ⚠
- p.Leu459Ile Single submitter ⚠
- p.Leu481His Single submitter ⚠
- p.Lys450Arg Single submitter ⚠
- p.Lys456Arg Single submitter ⚠
- p.Lys456Ile Single submitter ⚠
- p.Met344Ile Single submitter ⚠
- p.Met344Thr Single submitter ⚠
- p.Phe265Leu Single submitter ⚠
- p.Phe473Ser Single submitter ⚠
- p.Pro286Leu Single submitter
- p.Ser267Thr Single submitter ⚠
- p.Ser367Cys Single submitter ⚠
- p.Ser367Phe Single submitter ⚠
- p.Ser390Phe Single submitter ⚠
- p.Ser403Asn Single submitter ⚠
- p.Thr210Ser Single submitter ⚠
- p.Thr217Asn Single submitter ⚠
- p.Tyr269Cys Single submitter ⚠
- p.Tyr491Asp Single submitter ⚠
- p.Val181Ala Single submitter ⚠
- p.Val185Leu Single submitter ⚠
- p.Val195Met Single submitter ⚠
- p.Val223Ile Single submitter ⚠
- p.Val326Ala Single submitter ⚠
- p.Val441Ala Single submitter ⚠
- p.Val492Gly Single submitter