BACH1 — 101 ClinVar variants
All ClinVar germline BACH1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 94 flagged for review →
3 Benign · 4 Likely benign · 94 Uncertain significance
Full BACH1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 94
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 77
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- BACH1 p.Ala193Gly Uncertain significance Single submitter
- BACH1 p.Ala203Thr Uncertain significance Single submitter
- BACH1 p.Ala285Thr Uncertain significance Single submitter
- BACH1 p.Ala382Glu Uncertain significance Single submitter
- BACH1 p.Ala382Thr Uncertain significance Single submitter
- BACH1 p.Ala665Val Uncertain significance Single submitter
- BACH1 p.Ala693Val Uncertain significance Single submitter
- BACH1 p.Arg142Gly Uncertain significance Single submitter
- BACH1 p.Arg187His Uncertain significance Single submitter
- BACH1 p.Arg238Ile Uncertain significance Single submitter
- BACH1 p.Arg271Gly Uncertain significance Single submitter
- BACH1 p.Arg28Trp Uncertain significance Single submitter
- BACH1 p.Arg432Gln Uncertain significance Single submitter
- BACH1 p.Arg44Gln Uncertain significance Single submitter
- BACH1 p.Arg532Gln Uncertain significance Single submitter
- BACH1 p.Arg564Ser Uncertain significance Single submitter
- BACH1 p.Arg575Cys Uncertain significance Single submitter
- BACH1 p.Arg675Gln Uncertain significance Single submitter
- BACH1 p.Arg694Gly Uncertain significance Single submitter
- BACH1 p.Asn312Ser Uncertain significance Single submitter
- BACH1 p.Asp294Val Uncertain significance Single submitter
- BACH1 p.Asp372Ala Uncertain significance Single submitter
- BACH1 p.Asp482Gly Uncertain significance Single submitter
- BACH1 p.Cys145Ser Uncertain significance Single submitter
- BACH1 p.Cys263Gly Uncertain significance Single submitter
- BACH1 p.Cys472Tyr Uncertain significance Single submitter
- BACH1 p.Gln190Arg Uncertain significance Single submitter
- BACH1 p.Gln205Glu Uncertain significance Single submitter
- BACH1 p.Gln331Arg Uncertain significance Single submitter
- BACH1 p.Gln341Glu Uncertain significance Single submitter
- BACH1 p.Gln415Arg Uncertain significance Single submitter
- BACH1 p.Gln427His Uncertain significance Single submitter
- BACH1 p.Gln430Lys Uncertain significance Single submitter
- BACH1 p.Gln714His Uncertain significance Single submitter
- BACH1 p.Gln89His Uncertain significance Single submitter
- BACH1 p.Glu447Asp Uncertain significance Single submitter
- BACH1 p.Glu490Ala Uncertain significance Single submitter
- BACH1 p.Glu663Asp Uncertain significance Single submitter
- BACH1 p.Gly242Glu Uncertain significance Single submitter
- BACH1 p.Gly424Val Uncertain significance Single submitter
- BACH1 p.Gly686Glu Uncertain significance Single submitter
- BACH1 p.Gly719Val Uncertain significance Single submitter
- BACH1 p.Ile118Val Uncertain significance Single submitter
- BACH1 p.Ile315Val Uncertain significance Single submitter
- BACH1 p.Ile428Leu Uncertain significance Single submitter
- BACH1 p.Ile440Val Uncertain significance Single submitter
- BACH1 p.Ile464Met Uncertain significance Single submitter
- BACH1 p.Leu131Val Uncertain significance Single submitter
- BACH1 p.Leu165Val Uncertain significance Single submitter
- BACH1 p.Leu351Ser Uncertain significance Single submitter
- BACH1 p.Leu416Phe Uncertain significance Single submitter
- BACH1 p.Leu526Pro Uncertain significance Single submitter
- BACH1 p.Leu610Arg Uncertain significance Single submitter
- BACH1 p.Leu71Val Uncertain significance Single submitter
- BACH1 p.Lys108Thr Uncertain significance Single submitter
- BACH1 p.Lys156Asn Uncertain significance Single submitter
- BACH1 p.Met210Leu Uncertain significance Single submitter
- BACH1 p.Met210Thr Uncertain significance Single submitter
- BACH1 p.Met286Val Uncertain significance Single submitter
- BACH1 p.Met547Val Uncertain significance Single submitter
- BACH1 p.Pro141Ser Uncertain significance Single submitter
- BACH1 p.Pro310Ser Uncertain significance Single submitter
- BACH1 p.Pro436Leu Uncertain significance Single submitter
- BACH1 p.Pro493Thr Uncertain significance Single submitter
- BACH1 p.Ser196Leu Uncertain significance Single submitter
- BACH1 p.Ser425Leu Uncertain significance Single submitter
- BACH1 p.Ser537Pro Uncertain significance Single submitter
- BACH1 p.Ser658Asn Uncertain significance Single submitter
- BACH1 p.Thr301Ala Uncertain significance Single submitter
- BACH1 p.Thr469Ser Uncertain significance Single submitter
- BACH1 p.Thr508Ser Uncertain significance Single submitter
- BACH1 p.Thr705Asn Uncertain significance Single submitter
- BACH1 p.Thr74Ser Uncertain significance Single submitter
- BACH1 p.Val40Leu Uncertain significance Single submitter
- BACH1 p.Val64Ile Uncertain significance Single submitter
-
BACH1 p.Arg575His
Uncertain significance
No assertion criteria
Cerebellar vermis hypoplasia
-
BACH1 p.Glu363Gln
Uncertain significance
No assertion criteria
BACH1-related disorder
Predictors split 17
The independent predictors disagree with each other — read with care.
- BACH1 p.Ala233Gly Uncertain significance Single submitter
- BACH1 p.Arg432Trp Uncertain significance Single submitter
- BACH1 p.Arg44Trp Uncertain significance Single submitter
- BACH1 p.Asp201Tyr Uncertain significance Single submitter
- BACH1 p.Cys581Arg Uncertain significance Single submitter
- BACH1 p.Glu434Gly Uncertain significance Single submitter
- BACH1 p.Gly400Ser Uncertain significance Single submitter
- BACH1 p.Ile534Met Uncertain significance Single submitter
- BACH1 p.Leu212Phe Uncertain significance Single submitter
- BACH1 p.Ser512Cys Uncertain significance Single submitter
- BACH1 p.Ser57Gly Uncertain significance Single submitter
- BACH1 p.Ser61Ala Uncertain significance Single submitter
- BACH1 p.Ser61Leu Uncertain significance Single submitter
- BACH1 p.Thr37Ala Uncertain significance Single submitter
- BACH1 p.Thr455Lys Uncertain significance Single submitter
- BACH1 p.Thr469Ile Uncertain significance Single submitter
- BACH1 p.Val81Phe Uncertain significance Single submitter
All BACH1 variants
Benign 3
- p.Gly611= No assertion criteria BACH1-related disorder
- p.Ile498Phe No assertion criteria BACH1-related disorder
- p.Ser314Pro No assertion criteria BACH1-related disorder
Likely benign 4
- p.Arg163Lys Single submitter
- p.Thr508= Single submitter
- p.Asp280= No assertion criteria BACH1-related disorder
- p.Cys270Gly No assertion criteria BACH1-related disorder
Uncertain significance 94
- p.Ala193Gly Single submitter ⚠
- p.Ala203Thr Single submitter ⚠
- p.Ala233Gly Single submitter ⚠
- p.Ala285Thr Single submitter ⚠
- p.Ala382Glu Single submitter ⚠
- p.Ala382Thr Single submitter ⚠
- p.Ala665Val Single submitter ⚠
- p.Ala693Val Single submitter ⚠
- p.Arg142Gly Single submitter ⚠
- p.Arg187His Single submitter ⚠
- p.Arg238Ile Single submitter ⚠
- p.Arg271Gly Single submitter ⚠
- p.Arg28Trp Single submitter ⚠
- p.Arg432Gln Single submitter ⚠
- p.Arg432Trp Single submitter ⚠
- p.Arg44Gln Single submitter ⚠
- p.Arg44Trp Single submitter ⚠
- p.Arg532Gln Single submitter ⚠
- p.Arg564Ser Single submitter ⚠
- p.Arg575Cys Single submitter ⚠
- p.Arg675Gln Single submitter ⚠
- p.Arg694Gly Single submitter ⚠
- p.Asn312Ser Single submitter ⚠
- p.Asp201Tyr Single submitter ⚠
- p.Asp294Val Single submitter ⚠
- p.Asp372Ala Single submitter ⚠
- p.Asp482Gly Single submitter ⚠
- p.Cys145Ser Single submitter ⚠
- p.Cys263Gly Single submitter ⚠
- p.Cys472Tyr Single submitter ⚠
- p.Cys581Arg Single submitter ⚠
- p.Gln190Arg Single submitter ⚠
- p.Gln205Glu Single submitter ⚠
- p.Gln331Arg Single submitter ⚠
- p.Gln341Glu Single submitter ⚠
- p.Gln415Arg Single submitter ⚠
- p.Gln427His Single submitter ⚠
- p.Gln430Lys Single submitter ⚠
- p.Gln714His Single submitter ⚠
- p.Gln89His Single submitter ⚠
- p.Glu434Gly Single submitter ⚠
- p.Glu447Asp Single submitter ⚠
- p.Glu490Ala Single submitter ⚠
- p.Glu663Asp Single submitter ⚠
- p.Gly242Glu Single submitter ⚠
- p.Gly400Ser Single submitter ⚠
- p.Gly424Val Single submitter ⚠
- p.Gly686Glu Single submitter ⚠
- p.Gly719Val Single submitter ⚠
- p.Ile118Val Single submitter ⚠
- p.Ile315Val Single submitter ⚠
- p.Ile428Leu Single submitter ⚠
- p.Ile440Val Single submitter ⚠
- p.Ile464Met Single submitter ⚠
- p.Ile534Met Single submitter ⚠
- p.Leu131Val Single submitter ⚠
- p.Leu165Val Single submitter ⚠
- p.Leu212Phe Single submitter ⚠
- p.Leu351Ser Single submitter ⚠
- p.Leu416Phe Single submitter ⚠
- p.Leu526Pro Single submitter ⚠
- p.Leu610Arg Single submitter ⚠
- p.Leu71Val Single submitter ⚠
- p.Lys108Thr Single submitter ⚠
- p.Lys156Asn Single submitter ⚠
- p.Met210Leu Single submitter ⚠
- p.Met210Thr Single submitter ⚠
- p.Met286Val Single submitter ⚠
- p.Met547Val Single submitter ⚠
- p.Pro141Ser Single submitter ⚠
- p.Pro310Ser Single submitter ⚠
- p.Pro436Leu Single submitter ⚠
- p.Pro493Thr Single submitter ⚠
- p.Ser196Leu Single submitter ⚠
- p.Ser425Leu Single submitter ⚠
- p.Ser512Cys Single submitter ⚠
- p.Ser537Pro Single submitter ⚠
- p.Ser57Gly Single submitter ⚠
- p.Ser61Ala Single submitter ⚠
- p.Ser61Leu Single submitter ⚠
- p.Ser658Asn Single submitter ⚠
- p.Thr301Ala Single submitter ⚠
- p.Thr37Ala Single submitter ⚠
- p.Thr455Lys Single submitter ⚠
- p.Thr469Ile Single submitter ⚠
- p.Thr469Ser Single submitter ⚠
- p.Thr508Ser Single submitter ⚠
- p.Thr705Asn Single submitter ⚠
- p.Thr74Ser Single submitter ⚠
- p.Val40Leu Single submitter ⚠
- p.Val64Ile Single submitter ⚠
- p.Val81Phe Single submitter ⚠
- p.Arg575His No assertion criteria Cerebellar vermis hypoplasia ⚠
- p.Glu363Gln No assertion criteria BACH1-related disorder ⚠