BMAL1 — 54 ClinVar variants
All ClinVar germline BMAL1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 43 flagged for review →
2 Benign · 3 Likely benign · 49 Uncertain significance
Full BMAL1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 43
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 34
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- BMAL1 p.Arg238Gly Uncertain significance Single submitter
- BMAL1 p.Arg343Trp Uncertain significance Single submitter
- BMAL1 p.Arg497Gln Uncertain significance Single submitter
- BMAL1 p.Asn181Ser Uncertain significance Single submitter
- BMAL1 p.Asn302Ser Uncertain significance Single submitter
- BMAL1 p.Asn444Ser Uncertain significance Single submitter
- BMAL1 p.Asp56Gly Uncertain significance Single submitter
- BMAL1 p.Cys102Arg Uncertain significance Single submitter
- BMAL1 p.Glu332Gly Uncertain significance Single submitter
- BMAL1 p.His149Gln Uncertain significance Single submitter
- BMAL1 p.His461Gln Uncertain significance Single submitter
- BMAL1 p.Ile179Asn Uncertain significance Single submitter
- BMAL1 p.Ile232Thr Uncertain significance Single submitter
- BMAL1 p.Ile232Val Uncertain significance Single submitter
- BMAL1 p.Ile399Thr Uncertain significance Single submitter
- BMAL1 p.Leu28Pro Uncertain significance Single submitter
- BMAL1 p.Lys178Arg Uncertain significance Single submitter
- BMAL1 p.Lys271Arg Uncertain significance Single submitter
- BMAL1 p.Lys272Arg Uncertain significance Single submitter
- BMAL1 p.Lys349Glu Uncertain significance Single submitter
- BMAL1 p.Lys409Arg Uncertain significance Single submitter
- BMAL1 p.Met338Val Uncertain significance Single submitter
- BMAL1 p.Pro18Leu Uncertain significance Single submitter
- BMAL1 p.Pro266Thr Uncertain significance Single submitter
- BMAL1 p.Pro328Ser Uncertain significance Single submitter
- BMAL1 p.Pro535Ser Uncertain significance Single submitter
- BMAL1 p.Ser27Tyr Uncertain significance Single submitter
- BMAL1 p.Ser459Phe Uncertain significance Single submitter
- BMAL1 p.Ser550Phe Uncertain significance Single submitter
- BMAL1 p.Ser594Asn Uncertain significance Single submitter
- BMAL1 p.Thr124Ile Uncertain significance Single submitter
- BMAL1 p.Tyr46Cys Uncertain significance Single submitter
- BMAL1 p.Val161Ile Uncertain significance Single submitter
- BMAL1 p.Val445Ile Uncertain significance Single submitter
Predictors split 9
The independent predictors disagree with each other — read with care.
- BMAL1 p.Ala359Pro Uncertain significance Single submitter
- BMAL1 p.Arg37Cys Uncertain significance Single submitter
- BMAL1 p.Glu502Lys Uncertain significance Single submitter
- BMAL1 p.Gly331Trp Uncertain significance Single submitter
- BMAL1 p.Gly511Glu Uncertain significance Single submitter
- BMAL1 p.Ile201Thr Uncertain significance Single submitter
- BMAL1 p.Lys295Asn Uncertain significance Single submitter
-
BMAL1 p.Met6Ile
Uncertain significance
Single submitter
primary ovarian failure
- BMAL1 p.Pro625Gln Uncertain significance Single submitter
All BMAL1 variants
Likely benign 3
- c.179+134G>A Single submitter
- p.Ala611= Single submitter
- p.Leu314= Single submitter
Uncertain significance 49
- c.140+7C>T Single submitter BMAL1-related disorder
- p.Ala359Pro Single submitter ⚠
- p.Arg166Ter Single submitter
- p.Arg238Gly Single submitter ⚠
- p.Arg276Ter Single submitter
- p.Arg343Trp Single submitter ⚠
- p.Arg37Cys Single submitter ⚠
- p.Arg497Gln Single submitter ⚠
- p.Asn181Ser Single submitter ⚠
- p.Asn302Ser Single submitter ⚠
- p.Asn444Ser Single submitter ⚠
- p.Asn576fs Single submitter
- p.Asp56Gly Single submitter ⚠
- p.Cys102Arg Single submitter ⚠
- p.Glu332Gly Single submitter ⚠
- p.Glu502Lys Single submitter ⚠
- p.Gly331Trp Single submitter ⚠
- p.Gly511Glu Single submitter ⚠
- p.His149Gln Single submitter ⚠
- p.His461Gln Single submitter ⚠
- p.Ile179Asn Single submitter ⚠
- p.Ile201Thr Single submitter ⚠
- p.Ile232Thr Single submitter ⚠
- p.Ile232Val Single submitter ⚠
- p.Ile399Thr Single submitter ⚠
- p.Leu28Pro Single submitter ⚠
- p.Lys178Arg Single submitter ⚠
- p.Lys271Arg Single submitter ⚠
- p.Lys272Arg Single submitter ⚠
- p.Lys295Asn Single submitter ⚠
- p.Lys349Glu Single submitter ⚠
- p.Lys409Arg Single submitter ⚠
- p.Met338Val Single submitter ⚠
- p.Met424Ile Single submitter
- p.Met6Ile Single submitter primary ovarian failure ⚠
- p.Pro18Leu Single submitter ⚠
- p.Pro266Thr Single submitter ⚠
- p.Pro328Ser Single submitter ⚠
- p.Pro535Ser Single submitter ⚠
- p.Pro625Gln Single submitter ⚠
- p.Ser27Tyr Single submitter ⚠
- p.Ser459Phe Single submitter ⚠
- p.Ser550Phe Single submitter ⚠
- p.Ser594Asn Single submitter ⚠
- p.Thr124Ile Single submitter ⚠
- p.Tyr46Cys Single submitter ⚠
- p.Tyr564fs Single submitter neurodevelopmental disorder
- p.Val161Ile Single submitter ⚠
- p.Val445Ile Single submitter ⚠