PBK — 34 ClinVar variants
All ClinVar germline PBK variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 30 flagged for review →
1 Benign · 1 Likely benign · 32 Uncertain significance
Full PBK gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 30
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 25
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PBK p.Ala151Glu Uncertain significance Single submitter
- PBK p.Arg130Gln Uncertain significance Single submitter
- PBK p.Arg308His Uncertain significance Single submitter
- PBK p.Asn252Ser Uncertain significance Single submitter
- PBK p.Cys70Arg Uncertain significance Single submitter
- PBK p.Gln159Leu Uncertain significance Single submitter
- PBK p.Glu216Ala Uncertain significance Single submitter
- PBK p.Glu239Lys Uncertain significance Single submitter
- PBK p.Glu257Gly Uncertain significance Single submitter
- PBK p.Glu303Gln Uncertain significance Single submitter
- PBK p.Gly276Glu Uncertain significance Single submitter
- PBK p.Ile127Thr Uncertain significance Single submitter
- PBK p.Ile294Val Uncertain significance Single submitter
- PBK p.Leu113Phe Uncertain significance Single submitter
- PBK p.Leu191Ile Uncertain significance Single submitter
- PBK p.Lys161Glu Uncertain significance Single submitter
- PBK p.Phe138Cys Uncertain significance Single submitter
- PBK p.Phe266Val Uncertain significance Single submitter
- PBK p.Pro53Ser Uncertain significance Single submitter
- PBK p.Ser310Ala Uncertain significance Single submitter
- PBK p.Ser76Thr Uncertain significance Single submitter
- PBK p.Thr181Ala Uncertain significance Single submitter
- PBK p.Val173Ile Uncertain significance Single submitter
- PBK p.Val322Phe Uncertain significance Single submitter
- PBK p.Val98Ala Uncertain significance Single submitter
Predictors split 5
The independent predictors disagree with each other — read with care.
All PBK variants
Benign 1
- p.Glu220Asp Multiple submitters
Likely benign 1
- p.Ile281Val Single submitter
Uncertain significance 32
- p.Ala151Glu Single submitter ⚠
- p.Arg130Gln Single submitter ⚠
- p.Arg308His Single submitter ⚠
- p.Asn252Ser Single submitter ⚠
- p.Cys112Tyr Single submitter ⚠
- p.Cys70Arg Single submitter ⚠
- p.Gln159Leu Single submitter ⚠
- p.Glu210Lys Single submitter ⚠
- p.Glu216Ala Single submitter ⚠
- p.Glu239Lys Single submitter ⚠
- p.Glu257Gly Single submitter ⚠
- p.Glu303Gln Single submitter ⚠
- p.Gly276Glu Single submitter ⚠
- p.Ile127Thr Single submitter ⚠
- p.Ile294Val Single submitter ⚠
- p.Leu113Phe Single submitter ⚠
- p.Leu164Phe Single submitter ⚠
- p.Leu191Ile Single submitter ⚠
- p.Lys161Glu Single submitter ⚠
- p.Phe138Cys Single submitter ⚠
- p.Phe179Leu Single submitter ⚠
- p.Phe266Val Single submitter ⚠
- p.Pro30Leu Single submitter ⚠
- p.Pro53Ser Single submitter ⚠
- p.Ser310Ala Single submitter ⚠
- p.Ser52Phe Single submitter
- p.Ser76Thr Single submitter ⚠
- p.Thr181Ala Single submitter ⚠
- p.Tyr117Cys Single submitter
- p.Val173Ile Single submitter ⚠
- p.Val322Phe Single submitter ⚠
- p.Val98Ala Single submitter ⚠