PI4KB — 72 ClinVar variants
All ClinVar germline PI4KB variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 65 flagged for review →
4 Pathogenic · 3 Likely benign · 65 Uncertain significance
Full PI4KB gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 65
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 vs ClinVar 3
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
PI4KB p.Gln121Arg
Pathogenic
No assertion criteria
hearing loss, autosomal dominant 87
-
PI4KB p.Glu682Lys
Pathogenic
No assertion criteria
hearing loss, autosomal dominant 87
-
PI4KB p.Val449Gly
Pathogenic
No assertion criteria
hearing loss, autosomal dominant 87
Predictors lean, ClinVar uncertain 45
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PI4KB p.Ile312Val Uncertain significance Multiple submitters
- PI4KB p.Ala106Val Uncertain significance Single submitter
- PI4KB p.Ala67Val Uncertain significance Single submitter
- PI4KB p.Ala95Ser Uncertain significance Single submitter
- PI4KB p.Arg250Lys Uncertain significance Single submitter
- PI4KB p.Arg274Cys Uncertain significance Single submitter
- PI4KB p.Arg424Trp Uncertain significance Single submitter
- PI4KB p.Arg570Gln Uncertain significance Single submitter
- PI4KB p.Arg570Trp Uncertain significance Single submitter
- PI4KB p.Asn169Ser Uncertain significance Single submitter
- PI4KB p.Asn288Ser Uncertain significance Single submitter
- PI4KB p.Asp262Asn Uncertain significance Single submitter
- PI4KB p.Cys202Tyr Uncertain significance Single submitter
- PI4KB p.Glu16Val Uncertain significance Single submitter
- PI4KB p.Glu473Lys Uncertain significance Single submitter
- PI4KB p.Gly105Glu Uncertain significance Single submitter
- PI4KB p.Gly23Glu Uncertain significance Single submitter
- PI4KB p.Gly27Glu Uncertain significance Single submitter
- PI4KB p.Gly720Asp Uncertain significance Single submitter
- PI4KB p.Gly814Ser Uncertain significance Single submitter
- PI4KB p.His475Arg Uncertain significance Single submitter
- PI4KB p.Ile418Val Uncertain significance Single submitter
- PI4KB p.Ile437Thr Uncertain significance Single submitter
- PI4KB p.Leu285Phe Uncertain significance Single submitter
- PI4KB p.Leu601Val Uncertain significance Single submitter
- PI4KB p.Met778Val Uncertain significance Single submitter
- PI4KB p.Pro17Thr Uncertain significance Single submitter
- PI4KB p.Pro259Leu Uncertain significance Single submitter
- PI4KB p.Pro8Ser Uncertain significance Single submitter
- PI4KB p.Pro93Ser Uncertain significance Single submitter
- PI4KB p.Pro93Thr Uncertain significance Single submitter
- PI4KB p.Ser294Arg Uncertain significance Single submitter
- PI4KB p.Ser629Thr Uncertain significance Single submitter
- PI4KB p.Ser767Asn Uncertain significance Single submitter
- PI4KB p.Thr14Ala Uncertain significance Single submitter
- PI4KB p.Thr18Ala Uncertain significance Single submitter
- PI4KB p.Thr73Ile Uncertain significance Single submitter
- PI4KB p.Thr768Ile Uncertain significance Single submitter
- PI4KB p.Tyr175Cys Uncertain significance Single submitter
- PI4KB p.Tyr219Phe Uncertain significance Single submitter
- PI4KB p.Tyr452Cys Uncertain significance Single submitter
- PI4KB p.Val37Ile Uncertain significance Single submitter
- PI4KB p.Val401Met Uncertain significance Single submitter
- PI4KB p.Val541Ala Uncertain significance Single submitter
- PI4KB p.Val591Met Uncertain significance Single submitter
Predictors split 17
The independent predictors disagree with each other — read with care.
- PI4KB p.Ala605Gly Uncertain significance Single submitter
- PI4KB p.Arg203His Uncertain significance Single submitter
- PI4KB p.Arg422Gln Uncertain significance Single submitter
- PI4KB p.Arg442Gln Uncertain significance Single submitter
- PI4KB p.Arg590Gln Uncertain significance Single submitter
- PI4KB p.Arg798Trp Uncertain significance Single submitter
- PI4KB p.Glu170Lys Uncertain significance Single submitter
- PI4KB p.Glu434Lys Uncertain significance Single submitter
- PI4KB p.Gly2Arg Uncertain significance Single submitter
- PI4KB p.Gly723Asp Uncertain significance Single submitter
- PI4KB p.Leu138Val Uncertain significance Single submitter
- PI4KB p.Leu257Trp Uncertain significance Single submitter
- PI4KB p.Met780Lys Uncertain significance Single submitter
- PI4KB p.Ser604Ala Uncertain significance Single submitter
- PI4KB p.Ser629Pro Uncertain significance Single submitter
- PI4KB p.Val66Met Uncertain significance Single submitter
-
PI4KB p.Ser256Phe
Uncertain significance
No assertion criteria
PI4KB-related disorder
All PI4KB variants
Pathogenic 4
- p.Gln121Arg No assertion criteria hearing loss, autosomal dominant 87 ⚠
- p.Glu682Lys No assertion criteria hearing loss, autosomal dominant 87 ⚠
- p.Met754Arg No assertion criteria hearing loss, autosomal dominant 87
- p.Val449Gly No assertion criteria hearing loss, autosomal dominant 87 ⚠
Uncertain significance 65
- p.Ile312Val Multiple submitters ⚠
- c.-17G>A Single submitter
- c.-6G>T Single submitter
- p.Ala106Val Single submitter ⚠
- p.Ala605Gly Single submitter ⚠
- p.Ala67Val Single submitter ⚠
- p.Ala95Ser Single submitter ⚠
- p.Arg203His Single submitter ⚠
- p.Arg250Lys Single submitter ⚠
- p.Arg274Cys Single submitter ⚠
- p.Arg422Gln Single submitter ⚠
- p.Arg424Trp Single submitter ⚠
- p.Arg442Gln Single submitter ⚠
- p.Arg570Gln Single submitter ⚠
- p.Arg570Trp Single submitter ⚠
- p.Arg590Gln Single submitter ⚠
- p.Arg798Trp Single submitter ⚠
- p.Asn169Ser Single submitter ⚠
- p.Asn288Ser Single submitter ⚠
- p.Asp262Asn Single submitter ⚠
- p.Cys202Tyr Single submitter ⚠
- p.Glu16_Ser19del Single submitter
- p.Glu16Val Single submitter ⚠
- p.Glu170Lys Single submitter ⚠
- p.Glu434Lys Single submitter ⚠
- p.Glu473Lys Single submitter ⚠
- p.Gly105Glu Single submitter ⚠
- p.Gly23Glu Single submitter ⚠
- p.Gly27Glu Single submitter ⚠
- p.Gly2Arg Single submitter ⚠
- p.Gly720Asp Single submitter ⚠
- p.Gly723Asp Single submitter ⚠
- p.Gly814Ser Single submitter ⚠
- p.His475Arg Single submitter ⚠
- p.Ile418Val Single submitter ⚠
- p.Ile437Thr Single submitter ⚠
- p.Leu138Val Single submitter ⚠
- p.Leu257Trp Single submitter ⚠
- p.Leu285Phe Single submitter ⚠
- p.Leu601Val Single submitter ⚠
- p.Met778Val Single submitter ⚠
- p.Met780Lys Single submitter ⚠
- p.Pro17Thr Single submitter ⚠
- p.Pro259Leu Single submitter ⚠
- p.Pro8Ser Single submitter ⚠
- p.Pro93Ser Single submitter ⚠
- p.Pro93Thr Single submitter ⚠
- p.Ser294Arg Single submitter ⚠
- p.Ser604Ala Single submitter ⚠
- p.Ser629Pro Single submitter ⚠
- p.Ser629Thr Single submitter ⚠
- p.Ser767Asn Single submitter ⚠
- p.Thr14Ala Single submitter ⚠
- p.Thr18Ala Single submitter ⚠
- p.Thr73Ile Single submitter ⚠
- p.Thr768Ile Single submitter ⚠
- p.Tyr175Cys Single submitter ⚠
- p.Tyr219Phe Single submitter ⚠
- p.Tyr452Cys Single submitter ⚠
- p.Val37Ile Single submitter ⚠
- p.Val401Met Single submitter ⚠
- p.Val541Ala Single submitter ⚠
- p.Val591Met Single submitter ⚠
- p.Val66Met Single submitter ⚠
- p.Ser256Phe No assertion criteria PI4KB-related disorder ⚠