BMAL2 — 85 ClinVar variants
All ClinVar germline BMAL2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 82 flagged for review →
1 Benign · 4 Likely benign · 80 Uncertain significance
Full BMAL2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 82
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 53
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- BMAL2 p.Ala141Val Uncertain significance Single submitter
- BMAL2 p.Ala3Thr Uncertain significance Single submitter
- BMAL2 p.Ala583Thr Uncertain significance Single submitter
- BMAL2 p.Arg279Gly Uncertain significance Single submitter
- BMAL2 p.Arg285Trp Uncertain significance Single submitter
- BMAL2 p.Arg95Gly Uncertain significance Single submitter
- BMAL2 p.Asn165Asp Uncertain significance Single submitter
- BMAL2 p.Asn615Ser Uncertain significance Single submitter
- BMAL2 p.Asp339Asn Uncertain significance Single submitter
- BMAL2 p.Asp411Glu Uncertain significance Single submitter
- BMAL2 p.Asp600Asn Uncertain significance Single submitter
- BMAL2 p.Gln528Arg Uncertain significance Single submitter
- BMAL2 p.Gln579Lys Uncertain significance Single submitter
- BMAL2 p.Gln596Leu Uncertain significance Single submitter
- BMAL2 p.Glu16Val Uncertain significance Single submitter
- BMAL2 p.Glu17Gly Uncertain significance Single submitter
- BMAL2 p.Glu71Lys Uncertain significance Single submitter
- BMAL2 p.Gly192Val Uncertain significance Single submitter
- BMAL2 p.Gly270Val Uncertain significance Single submitter
- BMAL2 p.Gly39Glu Uncertain significance Single submitter
- BMAL2 p.Gly508Glu Uncertain significance Single submitter
- BMAL2 p.Gly512Ser Uncertain significance Single submitter
- BMAL2 p.Gly54Arg Uncertain significance Single submitter
- BMAL2 p.Gly622Asp Uncertain significance Single submitter
- BMAL2 p.Gly99Asp Uncertain significance Single submitter
- BMAL2 p.His409Gln Uncertain significance Single submitter
- BMAL2 p.Ile127Thr Uncertain significance Single submitter
- BMAL2 p.Ile255Val Uncertain significance Single submitter
- BMAL2 p.Ile327Thr Uncertain significance Single submitter
- BMAL2 p.Ile391Val Uncertain significance Single submitter
- BMAL2 p.Leu147Ile Uncertain significance Single submitter
- BMAL2 p.Leu147Phe Uncertain significance Single submitter
- BMAL2 p.Lys213Arg Uncertain significance Single submitter
- BMAL2 p.Lys559Glu Uncertain significance Single submitter
- BMAL2 p.Met545Ile Uncertain significance Single submitter
- BMAL2 p.Phe282Leu Uncertain significance Single submitter
- BMAL2 p.Phe41Ser Uncertain significance Single submitter
- BMAL2 p.Phe48Ile Uncertain significance Single submitter
- BMAL2 p.Phe629Ile Uncertain significance Single submitter
- BMAL2 p.Phe629Leu Uncertain significance Single submitter
- BMAL2 p.Pro139Ser Uncertain significance Single submitter
- BMAL2 p.Pro31Leu Uncertain significance Single submitter
- BMAL2 p.Ser341Gly Uncertain significance Single submitter
- BMAL2 p.Ser580Asn Uncertain significance Single submitter
- BMAL2 p.Thr79Ala Uncertain significance Single submitter
- BMAL2 p.Tyr80Cys Uncertain significance Single submitter
- BMAL2 p.Val103Ile Uncertain significance Single submitter
- BMAL2 p.Val207Ile Uncertain significance Single submitter
- BMAL2 p.Val357Ala Uncertain significance Single submitter
- BMAL2 p.Val584Ala Uncertain significance Single submitter
- BMAL2 p.Val584Ile Uncertain significance Single submitter
- BMAL2 p.Val584Leu Uncertain significance Single submitter
- BMAL2 p.Val96Leu Uncertain significance Single submitter
Predictors split 29
The independent predictors disagree with each other — read with care.
- BMAL2 p.Ala388Thr Uncertain significance Single submitter
- BMAL2 p.Arg118Gln Uncertain significance Single submitter
- BMAL2 p.Arg118Trp Uncertain significance Single submitter
- BMAL2 p.Arg142His Uncertain significance Single submitter
- BMAL2 p.Arg173Ile Uncertain significance Single submitter
- BMAL2 p.Arg273Cys Uncertain significance Single submitter
- BMAL2 p.Arg374Gln Uncertain significance Single submitter
- BMAL2 p.Arg50Gln Uncertain significance Single submitter
- BMAL2 p.Arg52Cys Uncertain significance Single submitter
- BMAL2 p.Asn522Ile Uncertain significance Single submitter
- BMAL2 p.Asp179His Uncertain significance Single submitter
- BMAL2 p.Gln397Leu Uncertain significance Single submitter
- BMAL2 p.Glu296Asp Benign Single submitter
- BMAL2 p.Glu333Gln Uncertain significance Single submitter
- BMAL2 p.Gly621Trp Uncertain significance Single submitter
- BMAL2 p.His232Tyr Uncertain significance Single submitter
- BMAL2 p.Ile134Met Uncertain significance Single submitter
- BMAL2 p.Ile255Thr Uncertain significance Single submitter
- BMAL2 p.Ile520Thr Uncertain significance Single submitter
- BMAL2 p.Lys238Arg Uncertain significance Single submitter
- BMAL2 p.Lys287Gln Uncertain significance Single submitter
- BMAL2 p.Lys460Glu Uncertain significance Single submitter
- BMAL2 p.Met133Val Uncertain significance Single submitter
- BMAL2 p.Phe444Ser Uncertain significance Single submitter
- BMAL2 p.Ser288Asn Uncertain significance Single submitter
- BMAL2 p.Ser467Cys Uncertain significance Single submitter
- BMAL2 p.Ser501Gly Likely benign Single submitter
- BMAL2 p.Ser540Arg Uncertain significance Single submitter
- BMAL2 p.Tyr464Cys Uncertain significance Single submitter
All BMAL2 variants
Benign 1
- p.Glu296Asp Single submitter ⚠
Likely benign 4
- p.Met569Ile Single submitter
- p.Ser501Gly Single submitter ⚠
- p.Ser74Phe Single submitter
- p.Thr581Ala Single submitter
Uncertain significance 80
- p.Ala141Val Single submitter ⚠
- p.Ala388Thr Single submitter ⚠
- p.Ala3Thr Single submitter ⚠
- p.Ala583Thr Single submitter ⚠
- p.Arg118Gln Single submitter ⚠
- p.Arg118Trp Single submitter ⚠
- p.Arg142His Single submitter ⚠
- p.Arg173Ile Single submitter ⚠
- p.Arg273Cys Single submitter ⚠
- p.Arg279Gly Single submitter ⚠
- p.Arg285Trp Single submitter ⚠
- p.Arg374Gln Single submitter ⚠
- p.Arg50Gln Single submitter ⚠
- p.Arg52Cys Single submitter ⚠
- p.Arg95Gly Single submitter ⚠
- p.Asn165Asp Single submitter ⚠
- p.Asn522Ile Single submitter ⚠
- p.Asn615Ser Single submitter ⚠
- p.Asp179His Single submitter ⚠
- p.Asp339Asn Single submitter ⚠
- p.Asp411Glu Single submitter ⚠
- p.Asp600Asn Single submitter ⚠
- p.Gln397Leu Single submitter ⚠
- p.Gln528Arg Single submitter ⚠
- p.Gln579Lys Single submitter ⚠
- p.Gln596Leu Single submitter ⚠
- p.Glu16Val Single submitter ⚠
- p.Glu17Gly Single submitter ⚠
- p.Glu333Gln Single submitter ⚠
- p.Glu71Lys Single submitter ⚠
- p.Gly192Val Single submitter ⚠
- p.Gly270Val Single submitter ⚠
- p.Gly39Glu Single submitter ⚠
- p.Gly508Glu Single submitter ⚠
- p.Gly512Ser Single submitter ⚠
- p.Gly54Arg Single submitter ⚠
- p.Gly621Trp Single submitter ⚠
- p.Gly622Asp Single submitter ⚠
- p.Gly99Asp Single submitter ⚠
- p.His232Tyr Single submitter ⚠
- p.His409Gln Single submitter ⚠
- p.Ile127Thr Single submitter ⚠
- p.Ile134Met Single submitter ⚠
- p.Ile255Thr Single submitter ⚠
- p.Ile255Val Single submitter ⚠
- p.Ile327Thr Single submitter ⚠
- p.Ile391Val Single submitter ⚠
- p.Ile520Thr Single submitter ⚠
- p.Leu147Ile Single submitter ⚠
- p.Leu147Phe Single submitter ⚠
- p.Lys213Arg Single submitter ⚠
- p.Lys238Arg Single submitter ⚠
- p.Lys287Gln Single submitter ⚠
- p.Lys460Glu Single submitter ⚠
- p.Lys559Glu Single submitter ⚠
- p.Met133Val Single submitter ⚠
- p.Met545Ile Single submitter ⚠
- p.Phe282Leu Single submitter ⚠
- p.Phe41Ser Single submitter ⚠
- p.Phe444Ser Single submitter ⚠
- p.Phe48Ile Single submitter ⚠
- p.Phe629Ile Single submitter ⚠
- p.Phe629Leu Single submitter ⚠
- p.Pro139Ser Single submitter ⚠
- p.Pro31Leu Single submitter ⚠
- p.Ser288Asn Single submitter ⚠
- p.Ser341Gly Single submitter ⚠
- p.Ser467Cys Single submitter ⚠
- p.Ser540Arg Single submitter ⚠
- p.Ser580Asn Single submitter ⚠
- p.Thr79Ala Single submitter ⚠
- p.Tyr464Cys Single submitter ⚠
- p.Tyr80Cys Single submitter ⚠
- p.Val103Ile Single submitter ⚠
- p.Val207Ile Single submitter ⚠
- p.Val357Ala Single submitter ⚠
- p.Val584Ala Single submitter ⚠
- p.Val584Ile Single submitter ⚠
- p.Val584Leu Single submitter ⚠
- p.Val96Leu Single submitter ⚠