BAX — 39 ClinVar variants
All ClinVar germline BAX variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 23 flagged for review →
2 Pathogenic · 1 Likely pathogenic · 1 Benign · 6 Likely benign · 29 Uncertain significance
Full BAX gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 23
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 9
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- BAX p.Arg134Gly Uncertain significance Single submitter
- BAX p.Arg145Gln Uncertain significance Single submitter
- BAX p.Gln7Arg Uncertain significance Single submitter
- BAX p.Gln7Leu Uncertain significance Single submitter
- BAX p.Gly108Ser Uncertain significance Single submitter
- BAX p.Gly40Val Uncertain significance Single submitter
- BAX p.Met38Ile Uncertain significance Single submitter
- BAX p.Ser4Pro Uncertain significance Single submitter
- BAX p.Ser87Thr Uncertain significance Single submitter
Predictors split 14
The independent predictors disagree with each other — read with care.
- BAX p.Ala81Pro Uncertain significance Single submitter
- BAX p.Arg147Trp Uncertain significance Single submitter
- BAX p.Gly3Trp Uncertain significance Single submitter
- BAX p.Ile66Val Uncertain significance Single submitter
- BAX p.Leu113Phe Uncertain significance Single submitter
- BAX p.Met99Ile Uncertain significance Single submitter
- BAX p.Phe93Ser Uncertain significance Single submitter
- BAX p.Pro51Ala Uncertain significance Single submitter
- BAX p.Ser15Gly Uncertain significance Single submitter
- BAX p.Ser87Cys Uncertain significance Single submitter
- BAX p.Thr135Ile Uncertain significance Single submitter
- BAX p.Thr56Asn Uncertain significance Single submitter
- BAX p.Thr56Ile Uncertain significance Single submitter
- BAX p.Val121Ala Uncertain significance Single submitter
All BAX variants
Pathogenic 2
- p.Gly39fs No assertion criteria T-cell acute lymphoblastic leukemia
- p.Gly67Arg No assertion criteria T-cell acute lymphoblastic leukemia
Likely pathogenic 1
- c.474+50_474+63del Single submitter developmental and epileptic encephalopathy, 5
Benign 1
- p.Asp102= Multiple submitters
Likely benign 6
- c.474+3G>A Single submitter
- c.474+48C>T Single submitter
- c.474+62C>T Single submitter
- p.Gly23= Single submitter
- p.Lys58Arg Single submitter
- p.Thr167= Single submitter
Uncertain significance 29
- c.474+151G>A Single submitter
- c.474+20C>A Single submitter
- c.474+34C>T Single submitter
- c.474+76G>A Single submitter
- c.474+95G>C Single submitter
- p.Ala81Pro Single submitter ⚠
- p.Arg134Gly Single submitter ⚠
- p.Arg145Gln Single submitter ⚠
- p.Arg147Trp Single submitter ⚠
- p.Gln7Arg Single submitter ⚠
- p.Gln7Leu Single submitter ⚠
- p.Glu41fs Single submitter Inborn genetic diseases
- p.Gly108Ser Single submitter ⚠
- p.Gly3Trp Single submitter ⚠
- p.Gly40Val Single submitter ⚠
- p.Ile66Val Single submitter ⚠
- p.Leu113Phe Single submitter ⚠
- p.Met38Ile Single submitter ⚠
- p.Met99Ile Single submitter ⚠
- p.Phe93Ser Single submitter ⚠
- p.Pro51Ala Single submitter ⚠
- p.Ser15Gly Single submitter ⚠
- p.Ser4Pro Single submitter ⚠
- p.Ser87Cys Single submitter ⚠
- p.Ser87Thr Single submitter ⚠
- p.Thr135Ile Single submitter ⚠
- p.Thr56Asn Single submitter ⚠
- p.Thr56Ile Single submitter ⚠
- p.Val121Ala Single submitter ⚠