SBK1 — 52 ClinVar variants
All ClinVar germline SBK1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 51 flagged for review →
52 Uncertain significance
Full SBK1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 51
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 40
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- SBK1 p.Ala131Thr Uncertain significance Single submitter
- SBK1 p.Ala133Gly Uncertain significance Single submitter
- SBK1 p.Ala261Thr Uncertain significance Single submitter
- SBK1 p.Ala27Val Uncertain significance Single submitter
- SBK1 p.Ala306Val Uncertain significance Single submitter
- SBK1 p.Ala329Glu Uncertain significance Single submitter
- SBK1 p.Ala369Thr Uncertain significance Single submitter
- SBK1 p.Arg168Gln Uncertain significance Single submitter
- SBK1 p.Arg268Cys Uncertain significance Single submitter
- SBK1 p.Arg273Gly Uncertain significance Single submitter
- SBK1 p.Arg322Gly Uncertain significance Single submitter
- SBK1 p.Arg322His Uncertain significance Single submitter
- SBK1 p.Arg330Pro Uncertain significance Single submitter
- SBK1 p.Glu121Ala Uncertain significance Single submitter
- SBK1 p.Glu129Gly Uncertain significance Single submitter
- SBK1 p.Glu346Gly Uncertain significance Single submitter
- SBK1 p.Glu391Asp Uncertain significance Single submitter
- SBK1 p.Gly167Arg Uncertain significance Single submitter
- SBK1 p.Gly24Glu Uncertain significance Single submitter
- SBK1 p.Gly371Arg Uncertain significance Single submitter
- SBK1 p.Gly393Ser Uncertain significance Single submitter
- SBK1 p.Ile110Val Uncertain significance Single submitter
- SBK1 p.Leu39Pro Uncertain significance Single submitter
- SBK1 p.Lys112Arg Uncertain significance Single submitter
- SBK1 p.Lys314Arg Uncertain significance Single submitter
- SBK1 p.Lys73Glu Uncertain significance Single submitter
- SBK1 p.Pro19Leu Uncertain significance Single submitter
- SBK1 p.Pro275Thr Uncertain significance Single submitter
- SBK1 p.Pro287Arg Uncertain significance Single submitter
- SBK1 p.Pro30Thr Uncertain significance Single submitter
- SBK1 p.Pro333Ala Uncertain significance Single submitter
- SBK1 p.Pro390Ser Uncertain significance Single submitter
- SBK1 p.Pro396Thr Uncertain significance Single submitter
- SBK1 p.Ser209Thr Uncertain significance Single submitter
- SBK1 p.Ser361Gly Uncertain significance Single submitter
- SBK1 p.Thr150Met Uncertain significance Single submitter
- SBK1 p.Thr285Ser Uncertain significance Single submitter
- SBK1 p.Val113Ala Uncertain significance Single submitter
- SBK1 p.Val155Ala Uncertain significance Single submitter
- SBK1 p.Val84Ala Uncertain significance Single submitter
Predictors split 11
The independent predictors disagree with each other — read with care.
- SBK1 p.Ala417Pro Uncertain significance Single submitter
- SBK1 p.Ala417Thr Uncertain significance Single submitter
- SBK1 p.Arg42Cys Uncertain significance Single submitter
- SBK1 p.Arg96Trp Uncertain significance Single submitter
- SBK1 p.Leu295Phe Uncertain significance Single submitter
- SBK1 p.Lys78Asn Uncertain significance Single submitter
- SBK1 p.Pro378Arg Uncertain significance Single submitter
- SBK1 p.Pro378Leu Uncertain significance Single submitter
- SBK1 p.Pro388Ala Uncertain significance Single submitter
- SBK1 p.Val219Ala Uncertain significance Single submitter
- SBK1 p.Val385Leu Uncertain significance Single submitter
All SBK1 variants
Uncertain significance 52
- p.Ala131Thr Single submitter ⚠
- p.Ala133Gly Single submitter ⚠
- p.Ala261Thr Single submitter ⚠
- p.Ala27Val Single submitter ⚠
- p.Ala306Val Single submitter ⚠
- p.Ala329Glu Single submitter ⚠
- p.Ala369Thr Single submitter ⚠
- p.Ala417Pro Single submitter ⚠
- p.Ala417Thr Single submitter ⚠
- p.Arg168Gln Single submitter ⚠
- p.Arg268Cys Single submitter ⚠
- p.Arg273Gly Single submitter ⚠
- p.Arg322Gly Single submitter ⚠
- p.Arg322His Single submitter ⚠
- p.Arg330Pro Single submitter ⚠
- p.Arg42Cys Single submitter ⚠
- p.Arg96Trp Single submitter ⚠
- p.Glu121Ala Single submitter ⚠
- p.Glu129Gly Single submitter ⚠
- p.Glu346Gly Single submitter ⚠
- p.Glu391Asp Single submitter ⚠
- p.Gly167Arg Single submitter ⚠
- p.Gly24Glu Single submitter ⚠
- p.Gly371Arg Single submitter ⚠
- p.Gly393Ser Single submitter ⚠
- p.Ile110Val Single submitter ⚠
- p.Leu295Phe Single submitter ⚠
- p.Leu39Pro Single submitter ⚠
- p.Lys112Arg Single submitter ⚠
- p.Lys314Arg Single submitter ⚠
- p.Lys73Glu Single submitter ⚠
- p.Lys78Asn Single submitter ⚠
- p.Pro19Leu Single submitter ⚠
- p.Pro275Thr Single submitter ⚠
- p.Pro287Arg Single submitter ⚠
- p.Pro30Thr Single submitter ⚠
- p.Pro333Ala Single submitter ⚠
- p.Pro378Arg Single submitter ⚠
- p.Pro378Leu Single submitter ⚠
- p.Pro388Ala Single submitter ⚠
- p.Pro390Ser Single submitter ⚠
- p.Pro396Thr Single submitter ⚠
- p.Ser209Thr Single submitter ⚠
- p.Ser257Trp Single submitter
- p.Ser361Gly Single submitter ⚠
- p.Thr150Met Single submitter ⚠
- p.Thr285Ser Single submitter ⚠
- p.Val113Ala Single submitter ⚠
- p.Val155Ala Single submitter ⚠
- p.Val219Ala Single submitter ⚠
- p.Val385Leu Single submitter ⚠
- p.Val84Ala Single submitter ⚠