BRSK1 — 68 ClinVar variants
All ClinVar germline BRSK1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 66 flagged for review →
1 Pathogenic · 1 Benign · 66 Uncertain significance
Full BRSK1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 66
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 37
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- BRSK1 p.Arg760His Uncertain significance Multiple submitters
- BRSK1 p.Ala324Thr Uncertain significance Single submitter
- BRSK1 p.Ala461Ser Uncertain significance Single submitter
- BRSK1 p.Ala547Thr Uncertain significance Single submitter
- BRSK1 p.Arg357Gln Uncertain significance Single submitter
- BRSK1 p.Arg389Cys Uncertain significance Single submitter
- BRSK1 p.Arg419Trp Uncertain significance Single submitter
- BRSK1 p.Arg466Pro Uncertain significance Single submitter
- BRSK1 p.Arg498Ser Uncertain significance Single submitter
- BRSK1 p.Arg510Leu Uncertain significance Single submitter
- BRSK1 p.Arg679Gln Uncertain significance Single submitter
- BRSK1 p.Arg700Cys Uncertain significance Single submitter
- BRSK1 p.Arg742Gln Uncertain significance Single submitter
- BRSK1 p.Arg750His Uncertain significance Single submitter
- BRSK1 p.Asn235Ser Uncertain significance Single submitter
- BRSK1 p.Asp234Tyr Uncertain significance Single submitter
- BRSK1 p.Asp407His Uncertain significance Single submitter
- BRSK1 p.Gln719Arg Uncertain significance Single submitter
- BRSK1 p.Glu344Asp Uncertain significance Single submitter
- BRSK1 p.Gly391Arg Uncertain significance Single submitter
- BRSK1 p.Gly435Glu Uncertain significance Single submitter
- BRSK1 p.Gly533Arg Uncertain significance Single submitter
- BRSK1 p.Gly681Ser Uncertain significance Single submitter
- BRSK1 p.Gly731Ala Uncertain significance Single submitter
- BRSK1 p.Gly731Arg Uncertain significance Single submitter
- BRSK1 p.Gly738Arg Uncertain significance Single submitter
- BRSK1 p.His290Gln Uncertain significance Single submitter
- BRSK1 p.Ile55Val Uncertain significance Single submitter
- BRSK1 p.Leu639Val Uncertain significance Single submitter
- BRSK1 p.Lys474Arg Uncertain significance Single submitter
- BRSK1 p.Lys615Glu Uncertain significance Single submitter
- BRSK1 p.Met306Thr Uncertain significance Single submitter
- BRSK1 p.Pro459Leu Uncertain significance Single submitter
- BRSK1 p.Pro746Ala Uncertain significance Single submitter
- BRSK1 p.Ser470Ala Uncertain significance Single submitter
- BRSK1 p.Thr529Pro Uncertain significance Single submitter
- BRSK1 p.Val141Leu Uncertain significance Single submitter
Predictors split 29
The independent predictors disagree with each other — read with care.
- BRSK1 p.Arg138His Uncertain significance Single submitter
- BRSK1 p.Arg419Gln Uncertain significance Single submitter
- BRSK1 p.Arg431His Uncertain significance Single submitter
- BRSK1 p.Arg662Cys Uncertain significance Single submitter
- BRSK1 p.Arg735Trp Uncertain significance Single submitter
- BRSK1 p.Arg760Cys Uncertain significance Single submitter
- BRSK1 p.Asn554Ser Uncertain significance Single submitter
- BRSK1 p.Gly410Ser Uncertain significance Single submitter
- BRSK1 p.Gly469Val Uncertain significance Single submitter
- BRSK1 p.Gly653Ser Uncertain significance Single submitter
- BRSK1 p.Gly685Asp Uncertain significance Single submitter
- BRSK1 p.Ile608Leu Uncertain significance Single submitter
- BRSK1 p.Leu521Pro Uncertain significance Single submitter
- BRSK1 p.Leu769Phe Uncertain significance Single submitter
- BRSK1 p.Lys131Arg Uncertain significance Single submitter
- BRSK1 p.Lys135Arg Uncertain significance Single submitter
- BRSK1 p.Lys703Arg Uncertain significance Single submitter
- BRSK1 p.Pro371Arg Uncertain significance Single submitter
- BRSK1 p.Pro395Ser Uncertain significance Single submitter
- BRSK1 p.Pro677Leu Uncertain significance Single submitter
- BRSK1 p.Ser446Arg Uncertain significance Single submitter
- BRSK1 p.Ser450Asn Uncertain significance Single submitter
- BRSK1 p.Ser637Asn Uncertain significance Single submitter
- BRSK1 p.Thr129Met Uncertain significance Single submitter
- BRSK1 p.Thr575Ala Uncertain significance Single submitter
- BRSK1 p.Val113Ile Uncertain significance Single submitter
- BRSK1 p.Val544Ile Uncertain significance Single submitter
- BRSK1 p.Val611Met Uncertain significance Single submitter
- BRSK1 p.Val625Ile Uncertain significance Single submitter
All BRSK1 variants
Pathogenic 1
- p.Arg484fs Single submitter BRSK1-associated neurodevelopmental disorder
Benign 1
- p.Ser388= Multiple submitters
Uncertain significance 66
- p.Arg760His Multiple submitters ⚠
- p.Ala324Thr Single submitter ⚠
- p.Ala461Ser Single submitter ⚠
- p.Ala547Thr Single submitter ⚠
- p.Arg138His Single submitter ⚠
- p.Arg357Gln Single submitter ⚠
- p.Arg389Cys Single submitter ⚠
- p.Arg419Gln Single submitter ⚠
- p.Arg419Trp Single submitter ⚠
- p.Arg431His Single submitter ⚠
- p.Arg466Pro Single submitter ⚠
- p.Arg498Ser Single submitter ⚠
- p.Arg510Leu Single submitter ⚠
- p.Arg662Cys Single submitter ⚠
- p.Arg679Gln Single submitter ⚠
- p.Arg700Cys Single submitter ⚠
- p.Arg735Trp Single submitter ⚠
- p.Arg742Gln Single submitter ⚠
- p.Arg750His Single submitter ⚠
- p.Arg760Cys Single submitter ⚠
- p.Asn235Ser Single submitter ⚠
- p.Asn554Ser Single submitter ⚠
- p.Asp234Tyr Single submitter ⚠
- p.Asp407His Single submitter ⚠
- p.Gln719Arg Single submitter ⚠
- p.Glu344Asp Single submitter ⚠
- p.Gly391Arg Single submitter ⚠
- p.Gly410Ser Single submitter ⚠
- p.Gly435Glu Single submitter ⚠
- p.Gly469Val Single submitter ⚠
- p.Gly533Arg Single submitter ⚠
- p.Gly653Ser Single submitter ⚠
- p.Gly681Ser Single submitter ⚠
- p.Gly685Asp Single submitter ⚠
- p.Gly731Ala Single submitter ⚠
- p.Gly731Arg Single submitter ⚠
- p.Gly738Arg Single submitter ⚠
- p.His290Gln Single submitter ⚠
- p.Ile55Val Single submitter ⚠
- p.Ile608Leu Single submitter ⚠
- p.Leu521Pro Single submitter ⚠
- p.Leu639Val Single submitter ⚠
- p.Leu769Phe Single submitter ⚠
- p.Lys131Arg Single submitter ⚠
- p.Lys135Arg Single submitter ⚠
- p.Lys474Arg Single submitter ⚠
- p.Lys615Glu Single submitter ⚠
- p.Lys703Arg Single submitter ⚠
- p.Met306Thr Single submitter ⚠
- p.Pro371Arg Single submitter ⚠
- p.Pro395Ser Single submitter ⚠
- p.Pro459Leu Single submitter ⚠
- p.Pro677Leu Single submitter ⚠
- p.Pro746Ala Single submitter ⚠
- p.Ser446Arg Single submitter ⚠
- p.Ser450Asn Single submitter ⚠
- p.Ser470Ala Single submitter ⚠
- p.Ser637Asn Single submitter ⚠
- p.Thr129Met Single submitter ⚠
- p.Thr529Pro Single submitter ⚠
- p.Thr575Ala Single submitter ⚠
- p.Val113Ile Single submitter ⚠
- p.Val141Leu Single submitter ⚠
- p.Val544Ile Single submitter ⚠
- p.Val611Met Single submitter ⚠
- p.Val625Ile Single submitter ⚠