BRIX1 — 55 ClinVar variants
All ClinVar germline BRIX1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 54 flagged for review →
2 Likely benign · 53 Uncertain significance
Full BRIX1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 54
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 41
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- BRIX1 p.Ala26Gly Uncertain significance Single submitter
- BRIX1 p.Ala34Ser Uncertain significance Single submitter
- BRIX1 p.Ala36Glu Uncertain significance Single submitter
- BRIX1 p.Ala3Val Uncertain significance Single submitter
- BRIX1 p.Arg218Trp Uncertain significance Single submitter
- BRIX1 p.Arg267Leu Uncertain significance Single submitter
- BRIX1 p.Arg270Ile Uncertain significance Single submitter
- BRIX1 p.Arg290Lys Uncertain significance Single submitter
- BRIX1 p.Arg73Gly Uncertain significance Single submitter
- BRIX1 p.Asn213Asp Uncertain significance Single submitter
- BRIX1 p.Asn71Ser Uncertain significance Single submitter
- BRIX1 p.Asp125Val Uncertain significance Single submitter
- BRIX1 p.Asp203Asn Uncertain significance Single submitter
- BRIX1 p.Asp212Asn Uncertain significance Single submitter
- BRIX1 p.Asp305Gly Uncertain significance Single submitter
- BRIX1 p.Asp95Tyr Uncertain significance Single submitter
- BRIX1 p.Cys115Arg Uncertain significance Single submitter
- BRIX1 p.Gly11Asp Uncertain significance Single submitter
- BRIX1 p.Gly249Glu Uncertain significance Single submitter
- BRIX1 p.Gly49Val Uncertain significance Single submitter
- BRIX1 p.His204Arg Uncertain significance Single submitter
- BRIX1 p.Leu297Pro Uncertain significance Single submitter
- BRIX1 p.Lys140Glu Uncertain significance Single submitter
- BRIX1 p.Lys18Arg Uncertain significance Single submitter
- BRIX1 p.Lys330Glu Uncertain significance Single submitter
- BRIX1 p.Lys353Glu Uncertain significance Single submitter
- BRIX1 p.Lys5Arg Uncertain significance Single submitter
- BRIX1 p.Lys93Thr Uncertain significance Single submitter
- BRIX1 p.Phe189Cys Uncertain significance Single submitter
- BRIX1 p.Phe208Leu Uncertain significance Single submitter
- BRIX1 p.Pro164Leu Uncertain significance Single submitter
- BRIX1 p.Pro164Thr Uncertain significance Single submitter
- BRIX1 p.Pro170Arg Uncertain significance Single submitter
- BRIX1 p.Pro200Ser Uncertain significance Single submitter
- BRIX1 p.Ser247Asn Uncertain significance Single submitter
- BRIX1 p.Ser261Leu Uncertain significance Single submitter
- BRIX1 p.Thr74Arg Uncertain significance Single submitter
- BRIX1 p.Thr74Ile Uncertain significance Single submitter
- BRIX1 p.Trp56Cys Uncertain significance Single submitter
- BRIX1 p.Tyr127Ser Uncertain significance Single submitter
- BRIX1 p.Val202Met Uncertain significance Single submitter
Predictors split 13
The independent predictors disagree with each other — read with care.
- BRIX1 p.Ala120Val Uncertain significance Single submitter
- BRIX1 p.Arg96Ser Uncertain significance Single submitter
- BRIX1 p.Asn104Lys Uncertain significance Single submitter
- BRIX1 p.Gln221Glu Uncertain significance Single submitter
- BRIX1 p.Glu27Lys Likely benign Single submitter
- BRIX1 p.Glu324Gln Uncertain significance Single submitter
- BRIX1 p.Leu142Ile Uncertain significance Single submitter
- BRIX1 p.Lys160Arg Uncertain significance Single submitter
- BRIX1 p.Lys280Glu Uncertain significance Single submitter
- BRIX1 p.Met109Thr Uncertain significance Single submitter
- BRIX1 p.Met343Thr Uncertain significance Single submitter
- BRIX1 p.Pro50His Uncertain significance Single submitter
- BRIX1 p.Thr273Ile Uncertain significance Single submitter
All BRIX1 variants
Likely benign 2
- p.Glu27Lys Single submitter ⚠
- p.His135= Single submitter
Uncertain significance 53
- p.Ala120Val Single submitter ⚠
- p.Ala26Gly Single submitter ⚠
- p.Ala34Ser Single submitter ⚠
- p.Ala36Glu Single submitter ⚠
- p.Ala3Val Single submitter ⚠
- p.Arg218Trp Single submitter ⚠
- p.Arg267Leu Single submitter ⚠
- p.Arg270Ile Single submitter ⚠
- p.Arg290Lys Single submitter ⚠
- p.Arg73Gly Single submitter ⚠
- p.Arg96Ser Single submitter ⚠
- p.Asn104Lys Single submitter ⚠
- p.Asn213Asp Single submitter ⚠
- p.Asn71Ser Single submitter ⚠
- p.Asp125Val Single submitter ⚠
- p.Asp203Asn Single submitter ⚠
- p.Asp212Asn Single submitter ⚠
- p.Asp305Gly Single submitter ⚠
- p.Asp95Tyr Single submitter ⚠
- p.Cys115Arg Single submitter ⚠
- p.Gln221Glu Single submitter ⚠
- p.Glu324Gln Single submitter ⚠
- p.Gly11Asp Single submitter ⚠
- p.Gly249Glu Single submitter ⚠
- p.Gly49Val Single submitter ⚠
- p.His204Arg Single submitter ⚠
- p.Leu142Ile Single submitter ⚠
- p.Leu297Pro Single submitter ⚠
- p.Lys140Glu Single submitter ⚠
- p.Lys160Arg Single submitter ⚠
- p.Lys18Arg Single submitter ⚠
- p.Lys280Glu Single submitter ⚠
- p.Lys330Glu Single submitter ⚠
- p.Lys353Glu Single submitter ⚠
- p.Lys5Arg Single submitter ⚠
- p.Lys93Thr Single submitter ⚠
- p.Met109Thr Single submitter ⚠
- p.Met343Thr Single submitter ⚠
- p.Phe189Cys Single submitter ⚠
- p.Phe208Leu Single submitter ⚠
- p.Pro164Leu Single submitter ⚠
- p.Pro164Thr Single submitter ⚠
- p.Pro170Arg Single submitter ⚠
- p.Pro200Ser Single submitter ⚠
- p.Pro50His Single submitter ⚠
- p.Ser247Asn Single submitter ⚠
- p.Ser261Leu Single submitter ⚠
- p.Thr273Ile Single submitter ⚠
- p.Thr74Arg Single submitter ⚠
- p.Thr74Ile Single submitter ⚠
- p.Trp56Cys Single submitter ⚠
- p.Tyr127Ser Single submitter ⚠
- p.Val202Met Single submitter ⚠