PIP5K1B — 50 ClinVar variants
All ClinVar germline PIP5K1B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 40 flagged for review →
2 Pathogenic · 4 Likely benign · 44 Uncertain significance
Full PIP5K1B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 40
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 29
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PIP5K1B p.Ala10Glu Uncertain significance Single submitter
- PIP5K1B p.Ala122Thr Uncertain significance Single submitter
- PIP5K1B p.Ala404Ser Uncertain significance Single submitter
- PIP5K1B p.Ala419Thr Uncertain significance Single submitter
- PIP5K1B p.Ala533Gly Uncertain significance Single submitter
- PIP5K1B p.Arg194His Uncertain significance Single submitter
- PIP5K1B p.Arg386Thr Uncertain significance Single submitter
- PIP5K1B p.Arg437Trp Uncertain significance Single submitter
- PIP5K1B p.Arg457Gln Uncertain significance Single submitter
- PIP5K1B p.Asn325Lys Uncertain significance Single submitter
- PIP5K1B p.Asn532Ser Uncertain significance Single submitter
- PIP5K1B p.Cys411Gly Uncertain significance Single submitter
- PIP5K1B p.Gly172Arg Uncertain significance Single submitter
- PIP5K1B p.Gly298Arg Uncertain significance Single submitter
- PIP5K1B p.Gly503Val Uncertain significance Single submitter
- PIP5K1B p.Leu173Pro Uncertain significance Single submitter
- PIP5K1B p.Leu342Gln Uncertain significance Single submitter
- PIP5K1B p.Leu469Gln Uncertain significance Single submitter
- PIP5K1B p.Lys397Arg Uncertain significance Single submitter
- PIP5K1B p.Met299Thr Uncertain significance Single submitter
- PIP5K1B p.Pro523Arg Uncertain significance Single submitter
- PIP5K1B p.Ser456Phe Uncertain significance Single submitter
- PIP5K1B p.Thr139Ala Uncertain significance Single submitter
- PIP5K1B p.Thr287Ile Uncertain significance Single submitter
- PIP5K1B p.Thr509Lys Uncertain significance Single submitter
- PIP5K1B p.Thr516Ile Uncertain significance Single submitter
- PIP5K1B p.Thr520Ser Uncertain significance Single submitter
- PIP5K1B p.Val486Ile Uncertain significance Single submitter
- PIP5K1B p.Val538Ile Uncertain significance Single submitter
Predictors split 11
The independent predictors disagree with each other — read with care.
- PIP5K1B p.Arg410Trp Uncertain significance Single submitter
- PIP5K1B p.Asn246Lys Uncertain significance Single submitter
- PIP5K1B p.Asp537His Uncertain significance Single submitter
- PIP5K1B p.Glu112Gln Uncertain significance Single submitter
- PIP5K1B p.Glu68Lys Uncertain significance Single submitter
- PIP5K1B p.Gly298Trp Uncertain significance Single submitter
- PIP5K1B p.Leu540Ser Uncertain significance Single submitter
- PIP5K1B p.Lys216Glu Uncertain significance Single submitter
- PIP5K1B p.Pro406Ala Uncertain significance Single submitter
- PIP5K1B p.Ser405Pro Uncertain significance Single submitter
- PIP5K1B p.Val129Ala Uncertain significance Single submitter
All PIP5K1B variants
Pathogenic 2
- p.Asn222fs No assertion criteria familial hypercholesterolemia
- p.Glu116Lys No assertion criteria familial hypercholesterolemia
Likely benign 4
- p.Ala415= Single submitter
- p.Ala521Thr Single submitter
- p.Glu285= Single submitter
- p.Ile428Val Single submitter
Uncertain significance 44
- p.Ala10Glu Single submitter ⚠
- p.Ala122Thr Single submitter ⚠
- p.Ala404Ser Single submitter ⚠
- p.Ala419Thr Single submitter ⚠
- p.Ala533Gly Single submitter ⚠
- p.Arg194His Single submitter ⚠
- p.Arg215His Single submitter
- p.Arg386Thr Single submitter ⚠
- p.Arg410Trp Single submitter ⚠
- p.Arg437Trp Single submitter ⚠
- p.Arg457Gln Single submitter ⚠
- p.Asn246Lys Single submitter ⚠
- p.Asn325Lys Single submitter ⚠
- p.Asn532Ser Single submitter ⚠
- p.Asp537His Single submitter ⚠
- p.Cys411Gly Single submitter ⚠
- p.Glu112Gln Single submitter ⚠
- p.Glu340Lys Single submitter
- p.Glu68Lys Single submitter ⚠
- p.Gly172Arg Single submitter ⚠
- p.Gly298Arg Single submitter ⚠
- p.Gly298Trp Single submitter ⚠
- p.Gly503Val Single submitter ⚠
- p.Leu173Pro Single submitter ⚠
- p.Leu342Gln Single submitter ⚠
- p.Leu469Gln Single submitter ⚠
- p.Leu540Ser Single submitter ⚠
- p.Lys216Glu Single submitter ⚠
- p.Lys397Arg Single submitter ⚠
- p.Met299Thr Single submitter ⚠
- p.Pro406Ala Single submitter ⚠
- p.Pro523Arg Single submitter ⚠
- p.Ser26Leu Single submitter
- p.Ser405Pro Single submitter ⚠
- p.Ser456Phe Single submitter ⚠
- p.Thr139Ala Single submitter ⚠
- p.Thr287Ile Single submitter ⚠
- p.Thr509Lys Single submitter ⚠
- p.Thr516Ile Single submitter ⚠
- p.Thr520Ser Single submitter ⚠
- p.Val129Ala Single submitter ⚠
- p.Val395Ile Single submitter
- p.Val486Ile Single submitter ⚠
- p.Val538Ile Single submitter ⚠