PIP4K2C — 41 ClinVar variants
All ClinVar germline PIP4K2C variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 39 flagged for review →
41 Uncertain significance
Full PIP4K2C gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 39
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 34
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PIP4K2C p.Ala300Val Uncertain significance Single submitter
- PIP4K2C p.Ala396Ser Uncertain significance Single submitter
- PIP4K2C p.Ala43Thr Uncertain significance Single submitter
- PIP4K2C p.Arg140His Uncertain significance Single submitter
- PIP4K2C p.Arg190Pro Uncertain significance Single submitter
- PIP4K2C p.Arg210Cys Uncertain significance Single submitter
- PIP4K2C p.Arg292Gln Uncertain significance Single submitter
- PIP4K2C p.Arg303Gln Uncertain significance Single submitter
- PIP4K2C p.Arg303Leu Uncertain significance Single submitter
- PIP4K2C p.Asp230Asn Uncertain significance Single submitter
- PIP4K2C p.Asp75Gly Uncertain significance Single submitter
- PIP4K2C p.Glu256Asp Uncertain significance Single submitter
- PIP4K2C p.Glu306Asp Uncertain significance Single submitter
- PIP4K2C p.Gly17Arg Uncertain significance Single submitter
- PIP4K2C p.Gly311Ala Uncertain significance Single submitter
- PIP4K2C p.Gly311Arg Uncertain significance Single submitter
- PIP4K2C p.Gly395Trp Uncertain significance Single submitter
- PIP4K2C p.Ile143Val Uncertain significance Single submitter
- PIP4K2C p.Ile151Val Uncertain significance Single submitter
- PIP4K2C p.Ile59Val Uncertain significance Single submitter
- PIP4K2C p.Leu284Met Uncertain significance Single submitter
- PIP4K2C p.Phe108Leu Uncertain significance Single submitter
- PIP4K2C p.Pro131Arg Uncertain significance Single submitter
- PIP4K2C p.Pro405Leu Uncertain significance Single submitter
- PIP4K2C p.Pro67Ser Uncertain significance Single submitter
- PIP4K2C p.Ser401Ala Uncertain significance Single submitter
- PIP4K2C p.Ser4Phe Uncertain significance Single submitter
- PIP4K2C p.Ser63Gly Uncertain significance Single submitter
- PIP4K2C p.Tyr103Cys Uncertain significance Single submitter
- PIP4K2C p.Tyr217Cys Uncertain significance Single submitter
- PIP4K2C p.Tyr354Cys Uncertain significance Single submitter
- PIP4K2C p.Tyr354Ser Uncertain significance Single submitter
- PIP4K2C p.Tyr368Cys Uncertain significance Single submitter
- PIP4K2C p.Tyr408Cys Uncertain significance Single submitter
Predictors split 5
The independent predictors disagree with each other — read with care.
All PIP4K2C variants
Uncertain significance 41
- p.Ala300Val Single submitter ⚠
- p.Ala396Ser Single submitter ⚠
- p.Ala43Thr Single submitter ⚠
- p.Arg140His Single submitter ⚠
- p.Arg190Gln Single submitter ⚠
- p.Arg190Pro Single submitter ⚠
- p.Arg210Cys Single submitter ⚠
- p.Arg292Gln Single submitter ⚠
- p.Arg303Gln Single submitter ⚠
- p.Arg303Leu Single submitter ⚠
- p.Arg357Trp Single submitter ⚠
- p.Asn86His Single submitter
- p.Asp230Asn Single submitter ⚠
- p.Asp289Asn Single submitter ⚠
- p.Asp75Gly Single submitter ⚠
- p.Glu256Asp Single submitter ⚠
- p.Glu306Asp Single submitter ⚠
- p.Gly17Arg Single submitter ⚠
- p.Gly21Cys Single submitter ⚠
- p.Gly311Ala Single submitter ⚠
- p.Gly311Arg Single submitter ⚠
- p.Gly395Trp Single submitter ⚠
- p.Ile143Val Single submitter ⚠
- p.Ile151Val Single submitter ⚠
- p.Ile59Val Single submitter ⚠
- p.Leu166Val Single submitter
- p.Leu284Met Single submitter ⚠
- p.Phe108Leu Single submitter ⚠
- p.Pro131Arg Single submitter ⚠
- p.Pro405Leu Single submitter ⚠
- p.Pro67Ser Single submitter ⚠
- p.Ser401Ala Single submitter ⚠
- p.Ser4Phe Single submitter ⚠
- p.Ser63Gly Single submitter ⚠
- p.Tyr103Cys Single submitter ⚠
- p.Tyr217Cys Single submitter ⚠
- p.Tyr354Cys Single submitter ⚠
- p.Tyr354Ser Single submitter ⚠
- p.Tyr368Cys Single submitter ⚠
- p.Tyr408Cys Single submitter ⚠
- p.Val38Glu Single submitter ⚠