PI4K2B — 60 ClinVar variants
All ClinVar germline PI4K2B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 52 flagged for review →
2 Benign · 4 Likely benign · 54 Uncertain significance
Full PI4K2B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 52
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 48
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PI4K2B p.Ala13Glu Uncertain significance Single submitter
- PI4K2B p.Ala190Val Uncertain significance Single submitter
- PI4K2B p.Ala42Ser Uncertain significance Single submitter
- PI4K2B p.Ala46Pro Uncertain significance Single submitter
- PI4K2B p.Arg177Gln Uncertain significance Single submitter
- PI4K2B p.Arg39Gly Uncertain significance Single submitter
- PI4K2B p.Arg48Lys Uncertain significance Single submitter
- PI4K2B p.Asn302Tyr Uncertain significance Single submitter
- PI4K2B p.Asn390Ser Uncertain significance Single submitter
- PI4K2B p.Asp138Val Uncertain significance Single submitter
- PI4K2B p.Asp14Asn Uncertain significance Single submitter
- PI4K2B p.Asp406Gly Uncertain significance Single submitter
- PI4K2B p.Asp61Glu Uncertain significance Single submitter
- PI4K2B p.Asp70Val Uncertain significance Single submitter
- PI4K2B p.Asp82Asn Uncertain significance Single submitter
- PI4K2B p.Asp82Glu Uncertain significance Single submitter
- PI4K2B p.Cys319Arg Uncertain significance Single submitter
- PI4K2B p.Glu63Ala Uncertain significance Single submitter
- PI4K2B p.Glu63Gly Uncertain significance Single submitter
- PI4K2B p.Gly435Arg Uncertain significance Single submitter
- PI4K2B p.His363Pro Uncertain significance Single submitter
- PI4K2B p.His462Tyr Uncertain significance Single submitter
- PI4K2B p.Ile143Thr Uncertain significance Single submitter
- PI4K2B p.Ile203Val Uncertain significance Single submitter
- PI4K2B p.Leu249Pro Uncertain significance Single submitter
- PI4K2B p.Leu30Pro Uncertain significance Single submitter
- PI4K2B p.Leu347Val Uncertain significance Single submitter
- PI4K2B p.Leu367Arg Uncertain significance Single submitter
- PI4K2B p.Leu66Phe Uncertain significance Single submitter
- PI4K2B p.Lys142Glu Uncertain significance Single submitter
- PI4K2B p.Phe351Cys Uncertain significance Single submitter
- PI4K2B p.Pro149Thr Uncertain significance Single submitter
- PI4K2B p.Pro18Arg Uncertain significance Single submitter
- PI4K2B p.Pro28Arg Uncertain significance Single submitter
- PI4K2B p.Pro28Leu Uncertain significance Single submitter
- PI4K2B p.Pro7Arg Uncertain significance Single submitter
- PI4K2B p.Pro86Leu Uncertain significance Single submitter
- PI4K2B p.Ser17Cys Uncertain significance Single submitter
- PI4K2B p.Ser202Thr Uncertain significance Single submitter
- PI4K2B p.Ser45Gly Uncertain significance Single submitter
- PI4K2B p.Ser479Ala Uncertain significance Single submitter
- PI4K2B p.Ser74Phe Uncertain significance Single submitter
- PI4K2B p.Thr413Ile Uncertain significance Single submitter
- PI4K2B p.Trp269Arg Uncertain significance Single submitter
-
PI4K2B p.Trp269Cys
Uncertain significance
Single submitter
autism
- PI4K2B p.Tyr219Cys Uncertain significance Single submitter
- PI4K2B p.Val119Ile Uncertain significance Single submitter
- PI4K2B p.Val88Ala Uncertain significance Single submitter
Predictors split 4
The independent predictors disagree with each other — read with care.
All PI4K2B variants
Benign 2
- p.Gln287His No assertion criteria Abnormality of neuronal migration
- p.Pro4Thr No assertion criteria Abnormality of neuronal migration
Likely benign 4
- c.978+20TA[11] Single submitter
- p.Arg379Lys Single submitter
- p.Glu320Gly Single submitter
- p.Ile92Val Single submitter
Uncertain significance 54
- p.Ala13Glu Single submitter ⚠
- p.Ala190Val Single submitter ⚠
- p.Ala42Ser Single submitter ⚠
- p.Ala46Pro Single submitter ⚠
- p.Arg177Gln Single submitter ⚠
- p.Arg39Gly Single submitter ⚠
- p.Arg451Cys Single submitter ⚠
- p.Arg48Lys Single submitter ⚠
- p.Asn302Tyr Single submitter ⚠
- p.Asn390Ser Single submitter ⚠
- p.Asn98Lys Single submitter ⚠
- p.Asp138Val Single submitter ⚠
- p.Asp14Asn Single submitter ⚠
- p.Asp406Gly Single submitter ⚠
- p.Asp61Glu Single submitter ⚠
- p.Asp70Val Single submitter ⚠
- p.Asp82Asn Single submitter ⚠
- p.Asp82Glu Single submitter ⚠
- p.Cys319Arg Single submitter ⚠
- p.Glu63Ala Single submitter ⚠
- p.Glu63Gly Single submitter ⚠
- p.Gly191Ser Single submitter
- p.Gly435Arg Single submitter ⚠
- p.His363Pro Single submitter ⚠
- p.His462Tyr Single submitter ⚠
- p.Ile143Thr Single submitter ⚠
- p.Ile203Val Single submitter ⚠
- p.Ile343Val Single submitter ⚠
- p.Leu249Pro Single submitter ⚠
- p.Leu30Pro Single submitter ⚠
- p.Leu347Val Single submitter ⚠
- p.Leu367Arg Single submitter ⚠
- p.Leu66Phe Single submitter ⚠
- p.Lys142Glu Single submitter ⚠
- p.Lys231Met Single submitter
- p.Phe351Cys Single submitter ⚠
- p.Pro149Thr Single submitter ⚠
- p.Pro18Arg Single submitter ⚠
- p.Pro28Arg Single submitter ⚠
- p.Pro28Leu Single submitter ⚠
- p.Pro7Arg Single submitter ⚠
- p.Pro86Leu Single submitter ⚠
- p.Ser17Cys Single submitter ⚠
- p.Ser202Thr Single submitter ⚠
- p.Ser45Gly Single submitter ⚠
- p.Ser479Ala Single submitter ⚠
- p.Ser74Phe Single submitter ⚠
- p.Thr413Ile Single submitter ⚠
- p.Trp269Arg Single submitter ⚠
- p.Trp269Cys Single submitter autism ⚠
- p.Tyr219Cys Single submitter ⚠
- p.Val119Ile Single submitter ⚠
- p.Val195Leu Single submitter ⚠
- p.Val88Ala Single submitter ⚠