BACE1 — 55 ClinVar variants
All ClinVar germline BACE1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 54 flagged for review →
1 Likely benign · 54 Uncertain significance
Full BACE1 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 31
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- BACE1 p.Ala304Pro Uncertain significance Single submitter
- BACE1 p.Ala459Asp Uncertain significance Single submitter
- BACE1 p.Arg122Gln Uncertain significance Single submitter
- BACE1 p.Arg255Gln Uncertain significance Single submitter
- BACE1 p.Arg296Cys Uncertain significance Single submitter
- BACE1 p.Arg481His Uncertain significance Single submitter
- BACE1 p.Arg487Cys Uncertain significance Single submitter
- BACE1 p.Asp192Asn Uncertain significance Single submitter
- BACE1 p.Asp424Asn Uncertain significance Single submitter
- BACE1 p.Asp451Glu Uncertain significance Single submitter
- BACE1 p.Asp491His Uncertain significance Single submitter
- BACE1 p.Cys485Tyr Uncertain significance Single submitter
- BACE1 p.Gln332Glu Uncertain significance Single submitter
- BACE1 p.Glu226Ala Uncertain significance Single submitter
- BACE1 p.Gly217Asp Uncertain significance Single submitter
- BACE1 p.Gly291Ser Uncertain significance Single submitter
- BACE1 p.Gly40Arg Uncertain significance Single submitter
- BACE1 p.Leu210Val Uncertain significance Single submitter
- BACE1 p.Lys136Arg Uncertain significance Single submitter
- BACE1 p.Met456Val Uncertain significance Single submitter
- BACE1 p.Ser166Ala Uncertain significance Single submitter
- BACE1 p.Thr133Asn Uncertain significance Single submitter
- BACE1 p.Thr428Met Uncertain significance Single submitter
- BACE1 p.Thr454Ala Uncertain significance Single submitter
- BACE1 p.Thr454Asn Uncertain significance Single submitter
- BACE1 p.Trp331Arg Uncertain significance Single submitter
- BACE1 p.Val306Leu Uncertain significance Single submitter
- BACE1 p.Val352Ile Uncertain significance Single submitter
- BACE1 p.Val370Leu Uncertain significance Single submitter
- BACE1 p.Val477Leu Uncertain significance Single submitter
- BACE1 p.Val64Ala Uncertain significance Single submitter
Predictors split 23
The independent predictors disagree with each other — read with care.
- BACE1 p.Ala104Asp Uncertain significance Single submitter
- BACE1 p.Ala185Val Uncertain significance Single submitter
- BACE1 p.Ala312Val Uncertain significance Single submitter
- BACE1 p.Ala409Val Uncertain significance Single submitter
- BACE1 p.Arg255Trp Uncertain significance Single submitter
- BACE1 p.Arg256Gln Uncertain significance Single submitter
- BACE1 p.Arg42Trp Uncertain significance Single submitter
- BACE1 p.Asn66Lys Uncertain significance Single submitter
- BACE1 p.Glu257Ala Uncertain significance Single submitter
- BACE1 p.Glu50Lys Uncertain significance Single submitter
- BACE1 p.Gly321Asp Uncertain significance Single submitter
- BACE1 p.Gly33Cys Uncertain significance Single submitter
- BACE1 p.Ile458Thr Uncertain significance Single submitter
- BACE1 p.Leu274Val Uncertain significance Single submitter
- BACE1 p.Lys310Arg Uncertain significance Single submitter
- BACE1 p.Met276Ile Uncertain significance Single submitter
- BACE1 p.Pro105Arg Uncertain significance Single submitter
- BACE1 p.Pro107Ser Uncertain significance Single submitter
- BACE1 p.Pro85Leu Uncertain significance Single submitter
- BACE1 p.Thr246Ala Uncertain significance Single submitter
- BACE1 p.Thr315Met Uncertain significance Single submitter
- BACE1 p.Thr437Ile Uncertain significance Single submitter
- BACE1 p.Val404Ile Uncertain significance Single submitter
All BACE1 variants
Likely benign 1
- p.Met12Val Single submitter
Uncertain significance 54
- p.Ala104Asp Single submitter ⚠
- p.Ala185Val Single submitter ⚠
- p.Ala304Pro Single submitter ⚠
- p.Ala312Val Single submitter ⚠
- p.Ala409Val Single submitter ⚠
- p.Ala459Asp Single submitter ⚠
- p.Arg122Gln Single submitter ⚠
- p.Arg255Gln Single submitter ⚠
- p.Arg255Trp Single submitter ⚠
- p.Arg256Gln Single submitter ⚠
- p.Arg296Cys Single submitter ⚠
- p.Arg42Trp Single submitter ⚠
- p.Arg481His Single submitter ⚠
- p.Arg487Cys Single submitter ⚠
- p.Asn66Lys Single submitter ⚠
- p.Asp192Asn Single submitter ⚠
- p.Asp424Asn Single submitter ⚠
- p.Asp451Glu Single submitter ⚠
- p.Asp491His Single submitter ⚠
- p.Cys485Tyr Single submitter ⚠
- p.Gln332Glu Single submitter ⚠
- p.Glu226Ala Single submitter ⚠
- p.Glu257Ala Single submitter ⚠
- p.Glu50Lys Single submitter ⚠
- p.Gly217Asp Single submitter ⚠
- p.Gly291Ser Single submitter ⚠
- p.Gly321Asp Single submitter ⚠
- p.Gly33Cys Single submitter ⚠
- p.Gly40Arg Single submitter ⚠
- p.Ile458Thr Single submitter ⚠
- p.Leu210Val Single submitter ⚠
- p.Leu274Val Single submitter ⚠
- p.Lys136Arg Single submitter ⚠
- p.Lys310Arg Single submitter ⚠
- p.Met276Ile Single submitter ⚠
- p.Met456Val Single submitter ⚠
- p.Pro105Arg Single submitter ⚠
- p.Pro107Ser Single submitter ⚠
- p.Pro85Leu Single submitter ⚠
- p.Ser166Ala Single submitter ⚠
- p.Thr133Asn Single submitter ⚠
- p.Thr246Ala Single submitter ⚠
- p.Thr315Met Single submitter ⚠
- p.Thr428Met Single submitter ⚠
- p.Thr437Ile Single submitter ⚠
- p.Thr454Ala Single submitter ⚠
- p.Thr454Asn Single submitter ⚠
- p.Trp331Arg Single submitter ⚠
- p.Val306Leu Single submitter ⚠
- p.Val352Ile Single submitter ⚠
- p.Val370Leu Single submitter ⚠
- p.Val404Ile Single submitter ⚠
- p.Val477Leu Single submitter ⚠
- p.Val64Ala Single submitter ⚠