PGBD3 — 81 ClinVar variants
All ClinVar germline PGBD3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 76 flagged for review →
1 Conflicting · 4 Likely benign · 76 Uncertain significance
Full PGBD3 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 agree, ClinVar conflicts 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
Predictors lean, ClinVar uncertain 42
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PGBD3 p.Ala338Thr Uncertain significance Single submitter
- PGBD3 p.Ala35Thr Uncertain significance Single submitter
- PGBD3 p.Ala475Thr Uncertain significance Single submitter
- PGBD3 p.Ala62Val Uncertain significance Single submitter
- PGBD3 p.Arg478His Uncertain significance Single submitter
- PGBD3 p.Arg518Cys Uncertain significance Single submitter
- PGBD3 p.Arg518His Uncertain significance Single submitter
- PGBD3 p.Asn163Asp Uncertain significance Single submitter
- PGBD3 p.Asp118Asn Uncertain significance Single submitter
- PGBD3 p.Asp134Asn Uncertain significance Single submitter
- PGBD3 p.Asp134His Uncertain significance Single submitter
- PGBD3 p.Asp381Asn Uncertain significance Single submitter
- PGBD3 p.Gln204Arg Uncertain significance Single submitter
- PGBD3 p.Gln334Arg Uncertain significance Single submitter
- PGBD3 p.Glu264Asp Uncertain significance Single submitter
- PGBD3 p.Glu31Lys Uncertain significance Single submitter
- PGBD3 p.Gly559Ala Uncertain significance Single submitter
- PGBD3 p.His172Arg Uncertain significance Single submitter
- PGBD3 p.His379Tyr Uncertain significance Single submitter
- PGBD3 p.His429Arg Uncertain significance Single submitter
- PGBD3 p.His583Pro Uncertain significance Single submitter
- PGBD3 p.His8Arg Uncertain significance Single submitter
- PGBD3 p.His8Leu Uncertain significance Single submitter
- PGBD3 p.Ile155Val Uncertain significance Single submitter
- PGBD3 p.Ile27Met Uncertain significance Single submitter
- PGBD3 p.Ile380Thr Uncertain significance Single submitter
- PGBD3 p.Leu119Val Uncertain significance Single submitter
- PGBD3 p.Leu148His Uncertain significance Single submitter
- PGBD3 p.Leu148Ile Uncertain significance Single submitter
- PGBD3 p.Leu487Phe Uncertain significance Single submitter
- PGBD3 p.Lys160Thr Uncertain significance Single submitter
- PGBD3 p.Lys577Arg Uncertain significance Single submitter
- PGBD3 p.Phe136Leu Uncertain significance Single submitter
- PGBD3 p.Pro99Thr Uncertain significance Single submitter
- PGBD3 p.Thr34Ala Uncertain significance Single submitter
- PGBD3 p.Tyr505Phe Uncertain significance Single submitter
- PGBD3 p.Val193Ile Uncertain significance Single submitter
- PGBD3 p.Val375Met Uncertain significance Single submitter
- PGBD3 p.Val463Ile Uncertain significance Single submitter
- PGBD3 p.Val494Phe Uncertain significance Single submitter
- PGBD3 p.Val510Met Uncertain significance Single submitter
- PGBD3 p.Val520Ile Uncertain significance Single submitter
Predictors split 33
The independent predictors disagree with each other — read with care.
- PGBD3 p.Ala466Thr Uncertain significance Single submitter
- PGBD3 p.Arg199Cys Uncertain significance Single submitter
- PGBD3 p.Arg199His Uncertain significance Single submitter
- PGBD3 p.Arg219Cys Uncertain significance Single submitter
- PGBD3 p.Arg287Gln Uncertain significance Single submitter
- PGBD3 p.Arg287Trp Uncertain significance Single submitter
- PGBD3 p.Arg474Trp Uncertain significance Single submitter
- PGBD3 p.Arg547His Uncertain significance Single submitter
- PGBD3 p.Asn234Ser Uncertain significance Single submitter
- PGBD3 p.Asn352Ser Uncertain significance Single submitter
- PGBD3 p.Asp17Val Uncertain significance Single submitter
- PGBD3 p.Asp400His Uncertain significance Single submitter
- PGBD3 p.Cys182Tyr Uncertain significance Single submitter
- PGBD3 p.Cys282Arg Uncertain significance Single submitter
- PGBD3 p.Glu45Gln Uncertain significance Single submitter
- PGBD3 p.Glu492Lys Uncertain significance Single submitter
- PGBD3 p.Gly397Asp Uncertain significance Single submitter
- PGBD3 p.Leu13Pro Uncertain significance Single submitter
- PGBD3 p.Leu237Trp Uncertain significance Single submitter
- PGBD3 p.Leu249Arg Uncertain significance Single submitter
- PGBD3 p.Phe269Leu Uncertain significance Single submitter
- PGBD3 p.Phe269Ser Uncertain significance Single submitter
- PGBD3 p.Phe285Ser Uncertain significance Single submitter
- PGBD3 p.Phe459Leu Uncertain significance Single submitter
- PGBD3 p.Phe489Leu Uncertain significance Single submitter
- PGBD3 p.Thr372Ala Uncertain significance Single submitter
- PGBD3 p.Thr374Ile Uncertain significance Single submitter
- PGBD3 p.Thr93Met Uncertain significance Single submitter
- PGBD3 p.Tyr165His Uncertain significance Single submitter
- PGBD3 p.Tyr295Cys Uncertain significance Single submitter
- PGBD3 p.Val154Gly Uncertain significance Single submitter
- PGBD3 p.Val332Phe Uncertain significance Single submitter
- PGBD3 p.Val520Leu Uncertain significance Single submitter
All PGBD3 variants
Conflicting classifications of pathogenicity 1
- p.Arg542Cys Single submitter ⚠
Likely benign 4
Uncertain significance 76
- p.Ala338Thr Single submitter ⚠
- p.Ala35Thr Single submitter ⚠
- p.Ala466Thr Single submitter ⚠
- p.Ala475Thr Single submitter ⚠
- p.Ala62Val Single submitter ⚠
- p.Arg199Cys Single submitter ⚠
- p.Arg199His Single submitter ⚠
- p.Arg219Cys Single submitter ⚠
- p.Arg287Gln Single submitter ⚠
- p.Arg287Trp Single submitter ⚠
- p.Arg474Trp Single submitter ⚠
- p.Arg478His Single submitter ⚠
- p.Arg518Cys Single submitter ⚠
- p.Arg518His Single submitter ⚠
- p.Arg547His Single submitter ⚠
- p.Asn163Asp Single submitter ⚠
- p.Asn234Ser Single submitter ⚠
- p.Asn352Ser Single submitter ⚠
- p.Asp118Asn Single submitter ⚠
- p.Asp134Asn Single submitter ⚠
- p.Asp134His Single submitter ⚠
- p.Asp17Val Single submitter ⚠
- p.Asp381Asn Single submitter ⚠
- p.Asp400His Single submitter ⚠
- p.Cys182Tyr Single submitter ⚠
- p.Cys282Arg Single submitter ⚠
- p.Gln204Arg Single submitter ⚠
- p.Gln334Arg Single submitter ⚠
- p.Gln98Ter Single submitter cerebrooculofacioskeletal syndrome 1
- p.Glu264Asp Single submitter ⚠
- p.Glu31Lys Single submitter ⚠
- p.Glu45Gln Single submitter ⚠
- p.Glu492Lys Single submitter ⚠
- p.Gly397Asp Single submitter ⚠
- p.Gly559Ala Single submitter ⚠
- p.His172Arg Single submitter ⚠
- p.His379Tyr Single submitter ⚠
- p.His429Arg Single submitter ⚠
- p.His583Pro Single submitter ⚠
- p.His8Arg Single submitter ⚠
- p.His8Leu Single submitter ⚠
- p.Ile155Val Single submitter ⚠
- p.Ile27Met Single submitter ⚠
- p.Ile380Thr Single submitter ⚠
- p.Leu119Val Single submitter ⚠
- p.Leu13Pro Single submitter ⚠
- p.Leu148His Single submitter ⚠
- p.Leu148Ile Single submitter ⚠
- p.Leu237Trp Single submitter ⚠
- p.Leu249Arg Single submitter ⚠
- p.Leu487Phe Single submitter ⚠
- p.Lys160Thr Single submitter ⚠
- p.Lys577Arg Single submitter ⚠
- p.Phe136Leu Single submitter ⚠
- p.Phe269Leu Single submitter ⚠
- p.Phe269Ser Single submitter ⚠
- p.Phe285Ser Single submitter ⚠
- p.Phe459Leu Single submitter ⚠
- p.Phe489Leu Single submitter ⚠
- p.Pro99Thr Single submitter ⚠
- p.Thr34Ala Single submitter ⚠
- p.Thr372Ala Single submitter ⚠
- p.Thr374Ile Single submitter ⚠
- p.Thr93Met Single submitter ⚠
- p.Tyr165His Single submitter ⚠
- p.Tyr295Cys Single submitter ⚠
- p.Tyr505Phe Single submitter ⚠
- p.Val154Gly Single submitter ⚠
- p.Val193Ile Single submitter ⚠
- p.Val332Phe Single submitter ⚠
- p.Val375Met Single submitter ⚠
- p.Val463Ile Single submitter ⚠
- p.Val494Phe Single submitter ⚠
- p.Val510Met Single submitter ⚠
- p.Val520Ile Single submitter ⚠
- p.Val520Leu Single submitter ⚠