IKBKE — 93 ClinVar variants
All ClinVar germline IKBKE variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 75 flagged for review →
4 Benign · 8 Likely benign · 81 Uncertain significance
Full IKBKE gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 75
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 66
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- IKBKE p.Ala197Val Uncertain significance Single submitter
- IKBKE p.Ala243Thr Uncertain significance Single submitter
- IKBKE p.Ala421Ser Uncertain significance Single submitter
- IKBKE p.Ala421Thr Uncertain significance Single submitter
- IKBKE p.Ala658Val Uncertain significance Single submitter
- IKBKE p.Ala663Val Uncertain significance Single submitter
- IKBKE p.Ala694Ser Uncertain significance Single submitter
- IKBKE p.Arg162Trp Uncertain significance Single submitter
- IKBKE p.Arg252Trp Uncertain significance Single submitter
- IKBKE p.Arg441Gln Uncertain significance Single submitter
- IKBKE p.Arg456Gln Uncertain significance Single submitter
- IKBKE p.Arg47Gln Uncertain significance Single submitter
- IKBKE p.Arg49His Uncertain significance Single submitter
- IKBKE p.Arg531Trp Uncertain significance Single submitter
- IKBKE p.Arg60Gln Uncertain significance Single submitter
- IKBKE p.Asn254Asp Uncertain significance Single submitter
- IKBKE p.Asn413Tyr Uncertain significance Single submitter
- IKBKE p.Asn619Lys Uncertain significance Single submitter
- IKBKE p.Asn700Ser Uncertain significance Single submitter
- IKBKE p.Asp296Asn Uncertain significance Single submitter
- IKBKE p.Asp715Glu Uncertain significance Single submitter
- IKBKE p.Gln368Arg Uncertain significance Single submitter
- IKBKE p.Gln487Arg Uncertain significance Single submitter
- IKBKE p.Gln598Lys Uncertain significance Single submitter
- IKBKE p.Glu128Lys Uncertain significance Single submitter
- IKBKE p.Glu148Gln Uncertain significance Single submitter
- IKBKE p.Glu301Asp Uncertain significance Single submitter
- IKBKE p.Glu536Asp Uncertain significance Single submitter
- IKBKE p.Glu55Lys Uncertain significance Single submitter
- IKBKE p.Glu640Gly Uncertain significance Single submitter
- IKBKE p.Glu648Lys Uncertain significance Single submitter
- IKBKE p.Glu705Gln Uncertain significance Single submitter
- IKBKE p.Gly139Ala Uncertain significance Single submitter
- IKBKE p.Gly16Glu Uncertain significance Single submitter
- IKBKE p.Gly18Arg Uncertain significance Single submitter
- IKBKE p.Gly199Arg Uncertain significance Single submitter
- IKBKE p.Gly255Arg Uncertain significance Single submitter
- IKBKE p.Gly422Ser Uncertain significance Single submitter
- IKBKE p.Gly77Ser Uncertain significance Single submitter
- IKBKE p.His322Tyr Uncertain significance Single submitter
- IKBKE p.His349Gln Uncertain significance Single submitter
- IKBKE p.His620Tyr Uncertain significance Single submitter
- IKBKE p.His651Arg Uncertain significance Single submitter
- IKBKE p.His651Gln Uncertain significance Single submitter
- IKBKE p.Ile131Val Uncertain significance Single submitter
- IKBKE p.Ile152Val Uncertain significance Single submitter
- IKBKE p.Ile233Leu Uncertain significance Single submitter
- IKBKE p.Ile370Met Uncertain significance Single submitter
- IKBKE p.Leu211Met Uncertain significance Single submitter
- IKBKE p.Leu381His Uncertain significance Single submitter
- IKBKE p.Lys192Glu Uncertain significance Single submitter
- IKBKE p.Lys25Asn Uncertain significance Single submitter
- IKBKE p.Phe295Val Uncertain significance Single submitter
- IKBKE p.Pro108Arg Uncertain significance Single submitter
- IKBKE p.Pro193Ser Uncertain significance Single submitter
- IKBKE p.Pro48Ser Uncertain significance Single submitter
- IKBKE p.Pro667Arg Uncertain significance Single submitter
- IKBKE p.Ser469Arg Uncertain significance Single submitter
- IKBKE p.Thr453Lys Uncertain significance Single submitter
- IKBKE p.Thr514Met Uncertain significance Single submitter
- IKBKE p.Thr633Ala Uncertain significance Single submitter
- IKBKE p.Thr76Met Uncertain significance Single submitter
- IKBKE p.Val403Ile Uncertain significance Single submitter
- IKBKE p.Val449Met Uncertain significance Single submitter
- IKBKE p.Val597Met Uncertain significance Single submitter
- IKBKE p.Val638Ile Uncertain significance Single submitter
Predictors split 9
The independent predictors disagree with each other — read with care.
- IKBKE p.Ala72Val Uncertain significance Single submitter
- IKBKE p.Arg500Trp Uncertain significance Single submitter
- IKBKE p.Gln511Pro Uncertain significance Single submitter
- IKBKE p.Leu263Phe Uncertain significance Single submitter
- IKBKE p.Leu46Pro Uncertain significance Single submitter
- IKBKE p.Phe392Leu Uncertain significance Single submitter
- IKBKE p.Pro395Ser Uncertain significance Single submitter
- IKBKE p.Ser497Phe Uncertain significance Single submitter
- IKBKE p.Val339Met Uncertain significance Single submitter
All IKBKE variants
Benign 4
Likely benign 8
- c.701+5G>A Single submitter
- p.Ala249Thr Single submitter
- p.Ala491Val Single submitter
- p.Arg430Gln Single submitter
- p.Cys687= Single submitter
- p.Leu46= Single submitter
- p.Val311Ile Single submitter
- p.Val68Ile Single submitter
Uncertain significance 81
- c.541-5G>A Single submitter Autoimmune connective tissue disease and vasculitis
- p.Ala197Val Single submitter ⚠
- p.Ala243Thr Single submitter ⚠
- p.Ala421Ser Single submitter ⚠
- p.Ala421Thr Single submitter ⚠
- p.Ala658Val Single submitter ⚠
- p.Ala663Val Single submitter ⚠
- p.Ala694Ser Single submitter ⚠
- p.Ala72Val Single submitter ⚠
- p.Arg127Gln Single submitter
- p.Arg143Leu Single submitter
- p.Arg162Trp Single submitter ⚠
- p.Arg252Trp Single submitter ⚠
- p.Arg441Gln Single submitter ⚠
- p.Arg456Gln Single submitter ⚠
- p.Arg47Gln Single submitter ⚠
- p.Arg47Trp Single submitter
- p.Arg49His Single submitter ⚠
- p.Arg500Trp Single submitter ⚠
- p.Arg531Trp Single submitter ⚠
- p.Arg60Gln Single submitter ⚠
- p.Asn254Asp Single submitter ⚠
- p.Asn413Tyr Single submitter ⚠
- p.Asn619Lys Single submitter ⚠
- p.Asn700Ser Single submitter ⚠
- p.Asp296Asn Single submitter ⚠
- p.Asp715Glu Single submitter ⚠
- p.Gln368Arg Single submitter ⚠
- p.Gln487Arg Single submitter ⚠
- p.Gln511Pro Single submitter ⚠
- p.Gln598Lys Single submitter ⚠
- p.Glu128Lys Single submitter ⚠
- p.Glu148Gln Single submitter ⚠
- p.Glu168Asp Single submitter
- p.Glu301Asp Single submitter ⚠
- p.Glu536Asp Single submitter ⚠
- p.Glu55Lys Single submitter ⚠
- p.Glu640Gly Single submitter ⚠
- p.Glu648Lys Single submitter ⚠
- p.Glu705Gln Single submitter ⚠
- p.Gly139Ala Single submitter ⚠
- p.Gly16Glu Single submitter ⚠
- p.Gly18Arg Single submitter ⚠
- p.Gly199Arg Single submitter ⚠
- p.Gly255Arg Single submitter ⚠
- p.Gly422Ser Single submitter ⚠
- p.Gly77Ser Single submitter ⚠
- p.His322Tyr Single submitter ⚠
- p.His349Gln Single submitter ⚠
- p.His620Tyr Single submitter ⚠
- p.His651Arg Single submitter ⚠
- p.His651Gln Single submitter ⚠
- p.Ile131Val Single submitter ⚠
- p.Ile152Val Single submitter ⚠
- p.Ile233Leu Single submitter ⚠
- p.Ile370Met Single submitter ⚠
- p.Leu211Met Single submitter ⚠
- p.Leu263Phe Single submitter ⚠
- p.Leu381His Single submitter ⚠
- p.Leu46Pro Single submitter ⚠
- p.Leu686Phe Single submitter
- p.Lys192Glu Single submitter ⚠
- p.Lys25Asn Single submitter ⚠
- p.Phe295Val Single submitter ⚠
- p.Phe392Leu Single submitter ⚠
- p.Pro108Arg Single submitter ⚠
- p.Pro193Ser Single submitter ⚠
- p.Pro395Ser Single submitter ⚠
- p.Pro48Ser Single submitter ⚠
- p.Pro667Arg Single submitter ⚠
- p.Ser469Arg Single submitter ⚠
- p.Ser497Phe Single submitter ⚠
- p.Thr453Lys Single submitter ⚠
- p.Thr514Met Single submitter ⚠
- p.Thr633Ala Single submitter ⚠
- p.Thr76Met Single submitter ⚠
- p.Val339Met Single submitter ⚠
- p.Val403Ile Single submitter ⚠
- p.Val449Met Single submitter ⚠
- p.Val597Met Single submitter ⚠
- p.Val638Ile Single submitter ⚠