PIP4K2A — 56 ClinVar variants
All ClinVar germline PIP4K2A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 47 flagged for review →
5 Benign · 51 Uncertain significance
Full PIP4K2A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 47
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 36
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PIP4K2A p.Arg133His Uncertain significance Single submitter
- PIP4K2A p.Arg396His Uncertain significance Single submitter
- PIP4K2A p.Asn124His Uncertain significance Single submitter
- PIP4K2A p.Asn50Ser Uncertain significance Single submitter
- PIP4K2A p.Asp297Asn Uncertain significance Single submitter
- PIP4K2A p.Asp297Gly Uncertain significance Single submitter
- PIP4K2A p.Asp337Asn Uncertain significance Single submitter
- PIP4K2A p.Glu284Asp Uncertain significance Single submitter
- PIP4K2A p.Glu303Lys Uncertain significance Single submitter
- PIP4K2A p.Gly306Ala Uncertain significance Single submitter
- PIP4K2A p.Gly5Ser Uncertain significance Single submitter
- PIP4K2A p.His308Tyr Uncertain significance Single submitter
- PIP4K2A p.Ile158Val Uncertain significance Single submitter
- PIP4K2A p.Leu122Arg Uncertain significance Single submitter
- PIP4K2A p.Leu12Pro Uncertain significance Single submitter
- PIP4K2A p.Lys21Arg Uncertain significance Single submitter
- PIP4K2A p.Met181Arg Uncertain significance Single submitter
- PIP4K2A p.Met181Leu Uncertain significance Single submitter
- PIP4K2A p.Met96Ile Uncertain significance Single submitter
- PIP4K2A p.Phe90Val Uncertain significance Single submitter
- PIP4K2A p.Pro123Ser Uncertain significance Single submitter
- PIP4K2A p.Pro309Gln Uncertain significance Single submitter
- PIP4K2A p.Pro325Gln Uncertain significance Single submitter
- PIP4K2A p.Pro334Arg Uncertain significance Single submitter
- PIP4K2A p.Pro4Leu Uncertain significance Single submitter
- PIP4K2A p.Pro4Ser Uncertain significance Single submitter
- PIP4K2A p.Ser126Thr Uncertain significance Single submitter
- PIP4K2A p.Ser222Thr Uncertain significance Single submitter
- PIP4K2A p.Ser347Trp Uncertain significance Single submitter
- PIP4K2A p.Ser48Ala Uncertain significance Single submitter
- PIP4K2A p.Ser9Phe Uncertain significance Single submitter
- PIP4K2A p.Thr307Asn Uncertain significance Single submitter
- PIP4K2A p.Trp43Leu Uncertain significance Single submitter
- PIP4K2A p.Val11Leu Uncertain significance Single submitter
- PIP4K2A p.Val199Ile Uncertain significance Single submitter
- PIP4K2A p.Val283Leu Uncertain significance Single submitter
Predictors split 11
The independent predictors disagree with each other — read with care.
- PIP4K2A p.Ala383Thr Uncertain significance Single submitter
- PIP4K2A p.Asn389Lys Uncertain significance Single submitter
- PIP4K2A p.Asp315Tyr Uncertain significance Single submitter
- PIP4K2A p.Gly318Arg Uncertain significance Single submitter
- PIP4K2A p.His22Asn Uncertain significance Single submitter
- PIP4K2A p.Lys89Arg Uncertain significance Single submitter
- PIP4K2A p.Met62Ile Uncertain significance Single submitter
- PIP4K2A p.Pro121Ser Uncertain significance Single submitter
- PIP4K2A p.Ser149Arg Uncertain significance Single submitter
- PIP4K2A p.Ser149Asn Uncertain significance Single submitter
- PIP4K2A p.Ser39Ile Uncertain significance Single submitter
All PIP4K2A variants
Benign 5
- c.339+10G>A Multiple submitters
- p.Glu391= Multiple submitters
- p.Leu327Met Multiple submitters
- p.Ser304= Multiple submitters
- c.792+505C>T Single submitter
Uncertain significance 51
- p.Ala383Thr Single submitter ⚠
- p.Arg133His Single submitter ⚠
- p.Arg203Cys Single submitter
- p.Arg396His Single submitter ⚠
- p.Asn124His Single submitter ⚠
- p.Asn389Lys Single submitter ⚠
- p.Asn50Ser Single submitter ⚠
- p.Asp139Asn Single submitter
- p.Asp297Asn Single submitter ⚠
- p.Asp297Gly Single submitter ⚠
- p.Asp315Tyr Single submitter ⚠
- p.Asp337Asn Single submitter ⚠
- p.Glu284Asp Single submitter ⚠
- p.Glu287Lys Single submitter
- p.Glu303Lys Single submitter ⚠
- p.Gly306Ala Single submitter ⚠
- p.Gly318Arg Single submitter ⚠
- p.Gly5Ser Single submitter ⚠
- p.His22Asn Single submitter ⚠
- p.His308Tyr Single submitter ⚠
- p.Ile158Val Single submitter ⚠
- p.Leu122Arg Single submitter ⚠
- p.Leu12Pro Single submitter ⚠
- p.Lys21Arg Single submitter ⚠
- p.Lys89Arg Single submitter ⚠
- p.Met181Arg Single submitter ⚠
- p.Met181Leu Single submitter ⚠
- p.Met62Ile Single submitter ⚠
- p.Met96Ile Single submitter ⚠
- p.Phe90Val Single submitter ⚠
- p.Pro121Ser Single submitter ⚠
- p.Pro123Ser Single submitter ⚠
- p.Pro309Gln Single submitter ⚠
- p.Pro325Gln Single submitter ⚠
- p.Pro334Arg Single submitter ⚠
- p.Pro4Leu Single submitter ⚠
- p.Pro4Ser Single submitter ⚠
- p.Ser119Ile Single submitter
- p.Ser126Thr Single submitter ⚠
- p.Ser149Arg Single submitter ⚠
- p.Ser149Asn Single submitter ⚠
- p.Ser222Thr Single submitter ⚠
- p.Ser347Trp Single submitter ⚠
- p.Ser39Ile Single submitter ⚠
- p.Ser48Ala Single submitter ⚠
- p.Ser9Phe Single submitter ⚠
- p.Thr307Asn Single submitter ⚠
- p.Trp43Leu Single submitter ⚠
- p.Val11Leu Single submitter ⚠
- p.Val199Ile Single submitter ⚠
- p.Val283Leu Single submitter ⚠