PIP4K2B — 31 ClinVar variants
All ClinVar germline PIP4K2B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 28 flagged for review →
1 Likely pathogenic · 1 Likely benign · 29 Uncertain significance
Full PIP4K2B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 28
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 21
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PIP4K2B p.Arg145Gln Uncertain significance Single submitter
- PIP4K2B p.Asn245Ser Uncertain significance Single submitter
- PIP4K2B p.Asn59Ser Uncertain significance Single submitter
- PIP4K2B p.Asp287Asn Uncertain significance Single submitter
- PIP4K2B p.Asp310His Uncertain significance Single submitter
- PIP4K2B p.Asp343Asn Uncertain significance Single submitter
- PIP4K2B p.Asp80Glu Uncertain significance Single submitter
- PIP4K2B p.Cys30Arg Uncertain significance Single submitter
- PIP4K2B p.Glu254Gln Uncertain significance Single submitter
- PIP4K2B p.Glu255Asp Uncertain significance Single submitter
- PIP4K2B p.Gly314Ser Uncertain significance Single submitter
- PIP4K2B p.Lys405Arg Uncertain significance Single submitter
- PIP4K2B p.Met101Ile Uncertain significance Single submitter
- PIP4K2B p.Met296Thr Uncertain significance Single submitter
- PIP4K2B p.Pro90Ser Uncertain significance Single submitter
- PIP4K2B p.Ser206Gly Uncertain significance Single submitter
- PIP4K2B p.Ser319Phe Uncertain significance Single submitter
- PIP4K2B p.Thr210Ile Uncertain significance Single submitter
- PIP4K2B p.Tyr143Ser Uncertain significance Single submitter
- PIP4K2B p.Val283Met Uncertain significance Single submitter
- PIP4K2B p.Val79Leu Uncertain significance Single submitter
Predictors split 7
The independent predictors disagree with each other — read with care.
- PIP4K2B p.Ala226Val Uncertain significance Single submitter
- PIP4K2B p.Asp228Asn Uncertain significance Single submitter
- PIP4K2B p.Glu155Lys Uncertain significance Single submitter
- PIP4K2B p.His52Asn Uncertain significance Single submitter
- PIP4K2B p.Phe270Leu Uncertain significance Single submitter
- PIP4K2B p.Ser44Arg Uncertain significance Single submitter
- PIP4K2B p.Val362Leu Uncertain significance Single submitter
All PIP4K2B variants
Likely pathogenic 1
- c.258-548_258-530del Single submitter autosomal recessive severe congenital neutropenia due to CSF3R deficiency
Likely benign 1
- p.Leu250= No assertion criteria EBV-positive nodal T- and NK-cell lymphoma
Uncertain significance 29
- p.Ala226Val Single submitter ⚠
- p.Arg145Gln Single submitter ⚠
- p.Asn245Ser Single submitter ⚠
- p.Asn59Ser Single submitter ⚠
- p.Asp228Asn Single submitter ⚠
- p.Asp287Asn Single submitter ⚠
- p.Asp310His Single submitter ⚠
- p.Asp343Asn Single submitter ⚠
- p.Asp80Glu Single submitter ⚠
- p.Cys30Arg Single submitter ⚠
- p.Glu155Lys Single submitter ⚠
- p.Glu254Gln Single submitter ⚠
- p.Glu255Asp Single submitter ⚠
- p.Gly314Ser Single submitter ⚠
- p.His52Asn Single submitter ⚠
- p.Lys405Arg Single submitter ⚠
- p.Met101Ile Single submitter ⚠
- p.Met296Thr Single submitter ⚠
- p.Phe270Leu Single submitter ⚠
- p.Pro90Ser Single submitter ⚠
- p.Ser206Gly Single submitter ⚠
- p.Ser319Phe Single submitter ⚠
- p.Ser44Arg Single submitter ⚠
- p.Thr210Ile Single submitter ⚠
- p.Tyr143Ser Single submitter ⚠
- p.Val268Ala Single submitter
- p.Val283Met Single submitter ⚠
- p.Val362Leu Single submitter ⚠
- p.Val79Leu Single submitter ⚠