BIK — 28 ClinVar variants
All ClinVar germline BIK variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 22 flagged for review →
7 Likely benign · 21 Uncertain significance
Full BIK gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 22
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 16
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- BIK p.Ala56Thr Uncertain significance Single submitter
- BIK p.Arg60Gln Uncertain significance Single submitter
- BIK p.Asp99Asn Uncertain significance Single submitter
- BIK p.Glu134Lys Uncertain significance Single submitter
- BIK p.Glu98Gly Uncertain significance Single submitter
- BIK p.Gly154Ser Uncertain significance Single submitter
- BIK p.Leu143Pro Uncertain significance Single submitter
- BIK p.Met13Val Uncertain significance Single submitter
- BIK p.Met42Leu Uncertain significance Single submitter
- BIK p.Met42Thr Uncertain significance Single submitter
- BIK p.Pro127Leu Uncertain significance Single submitter
- BIK p.Pro75Gln Uncertain significance Single submitter
- BIK p.Thr97Ser Uncertain significance Single submitter
- BIK p.Val131Ala Uncertain significance Single submitter
- BIK p.Val131Leu Uncertain significance Single submitter
- BIK p.Val29Phe Uncertain significance Single submitter
Predictors split 6
The independent predictors disagree with each other — read with care.
- BIK p.Gly154Asp Uncertain significance Single submitter
- BIK p.Leu104Pro Uncertain significance Single submitter
- BIK p.Leu114Pro Uncertain significance Single submitter
- BIK p.Leu141Gln Uncertain significance Single submitter
- BIK p.Leu30Phe Uncertain significance Single submitter
- BIK p.Pro125Leu Likely benign Single submitter
All BIK variants
Likely benign 7
- p.Ala139Val Single submitter
- p.Asp99Gly Single submitter
- p.His86Tyr Single submitter
- p.Leu12Phe Single submitter
- p.Pro125Leu Single submitter ⚠
- p.Pro149Ala Single submitter
- p.Pro25Leu Single submitter
Uncertain significance 21
- p.Ala56Thr Single submitter ⚠
- p.Arg60Gln Single submitter ⚠
- p.Asp99Asn Single submitter ⚠
- p.Glu134Lys Single submitter ⚠
- p.Glu98Gly Single submitter ⚠
- p.Gly154Asp Single submitter ⚠
- p.Gly154Ser Single submitter ⚠
- p.Leu104Pro Single submitter ⚠
- p.Leu114Pro Single submitter ⚠
- p.Leu141Gln Single submitter ⚠
- p.Leu143Pro Single submitter ⚠
- p.Leu30Phe Single submitter ⚠
- p.Met13Val Single submitter ⚠
- p.Met42Leu Single submitter ⚠
- p.Met42Thr Single submitter ⚠
- p.Pro127Leu Single submitter ⚠
- p.Pro75Gln Single submitter ⚠
- p.Thr97Ser Single submitter ⚠
- p.Val131Ala Single submitter ⚠
- p.Val131Leu Single submitter ⚠
- p.Val29Phe Single submitter ⚠