BHLHE41 — 100 ClinVar variants
All ClinVar germline BHLHE41 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 84 flagged for review →
4 Benign · 12 Likely benign · 84 Uncertain significance
Full BHLHE41 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 84
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 42
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- BHLHE41 p.Ala228Thr Uncertain significance Single submitter
- BHLHE41 p.Arg252Leu Uncertain significance Single submitter
- BHLHE41 p.Arg317Ile Uncertain significance Single submitter
- BHLHE41 p.Arg461Gly Uncertain significance Single submitter
- BHLHE41 p.Asp23Glu Uncertain significance Single submitter
- BHLHE41 p.Cys63Trp Uncertain significance Single submitter
- BHLHE41 p.Cys63Tyr Uncertain significance Single submitter
- BHLHE41 p.Gln125Glu Uncertain significance Single submitter
- BHLHE41 p.Gln12Glu Uncertain significance Single submitter
- BHLHE41 p.Gln209Arg Uncertain significance Single submitter
- BHLHE41 p.Gln267His Uncertain significance Single submitter
- BHLHE41 p.Gln339Pro Uncertain significance Single submitter
- BHLHE41 p.Gln364His Uncertain significance Single submitter
- BHLHE41 p.Glu245Lys Uncertain significance Single submitter
- BHLHE41 p.Gly243Ser Uncertain significance Single submitter
- BHLHE41 p.Gly259Glu Uncertain significance Single submitter
- BHLHE41 p.Gly391Ser Uncertain significance Single submitter
- BHLHE41 p.His445Pro Uncertain significance Single submitter
- BHLHE41 p.Leu211Pro Uncertain significance Single submitter
- BHLHE41 p.Leu367Gln Uncertain significance Single submitter
- BHLHE41 p.Leu455Arg Uncertain significance Single submitter
- BHLHE41 p.Lys254Asn Uncertain significance Single submitter
- BHLHE41 p.Lys256Arg Uncertain significance Single submitter
- BHLHE41 p.Lys256Glu Uncertain significance Single submitter
- BHLHE41 p.Phe385Tyr Uncertain significance Single submitter
- BHLHE41 p.Pro177Ala Uncertain significance Single submitter
- BHLHE41 p.Pro32Ser Uncertain significance Single submitter
- BHLHE41 p.Pro338Leu Uncertain significance Single submitter
- BHLHE41 p.Pro338Ser Uncertain significance Single submitter
- BHLHE41 p.Pro340Leu Uncertain significance Single submitter
- BHLHE41 p.Pro365Ser Uncertain significance Single submitter
- BHLHE41 p.Pro421Leu Uncertain significance Single submitter
- BHLHE41 p.Pro422Ser Uncertain significance Single submitter
- BHLHE41 p.Pro440Ala Uncertain significance Single submitter
- BHLHE41 p.Pro460Ser Uncertain significance Single submitter
- BHLHE41 p.Pro463Arg Uncertain significance Single submitter
- BHLHE41 p.Ser187Arg Uncertain significance Single submitter
- BHLHE41 p.Ser289Gly Uncertain significance Single submitter
- BHLHE41 p.Thr432Ala Uncertain significance Single submitter
- BHLHE41 p.Tyr24Cys Uncertain significance Single submitter
- BHLHE41 p.Tyr28Cys Uncertain significance Single submitter
- BHLHE41 p.Val184Ile Uncertain significance Single submitter
Predictors split 42
The independent predictors disagree with each other — read with care.
- BHLHE41 p.Ala170Val Uncertain significance Single submitter
- BHLHE41 p.Ala260Thr Uncertain significance Single submitter
- BHLHE41 p.Ala298Val Benign Single submitter
- BHLHE41 p.Ala299Val Uncertain significance Single submitter
- BHLHE41 p.Ala301Thr Uncertain significance Single submitter
- BHLHE41 p.Ala302Asp Uncertain significance Single submitter
- BHLHE41 p.Ala311Asp Uncertain significance Single submitter
- BHLHE41 p.Ala343Pro Uncertain significance Single submitter
- BHLHE41 p.Ala344Ser Uncertain significance Single submitter
- BHLHE41 p.Ala382Val Uncertain significance Single submitter
- BHLHE41 p.Ala399Val Uncertain significance Single submitter
- BHLHE41 p.Ala409Thr Uncertain significance Single submitter
- BHLHE41 p.Ala411Glu Uncertain significance Single submitter
- BHLHE41 p.Ala428Thr Benign Single submitter
- BHLHE41 p.Ala65Ser Uncertain significance Single submitter
- BHLHE41 p.Arg317Lys Uncertain significance Single submitter
- BHLHE41 p.Asn234Lys Uncertain significance Single submitter
- BHLHE41 p.Asp283His Uncertain significance Single submitter
- BHLHE41 p.Glu117Lys Uncertain significance Single submitter
- BHLHE41 p.Glu156Gly Uncertain significance Single submitter
- BHLHE41 p.Glu253Lys Uncertain significance Single submitter
- BHLHE41 p.Gly287Asp Uncertain significance Single submitter
- BHLHE41 p.Gly288Arg Uncertain significance Single submitter
- BHLHE41 p.Gly288Ser Uncertain significance Single submitter
- BHLHE41 p.Gly295Arg Uncertain significance Single submitter
- BHLHE41 p.Ile221Met Uncertain significance Single submitter
- BHLHE41 p.Leu186Met Uncertain significance Single submitter
- BHLHE41 p.Leu204Met Uncertain significance Single submitter
- BHLHE41 p.Pro336Ser Uncertain significance Single submitter
- BHLHE41 p.Pro390Ser Uncertain significance Single submitter
- BHLHE41 p.Pro421Thr Uncertain significance Single submitter
- BHLHE41 p.Pro446Arg Uncertain significance Single submitter
- BHLHE41 p.Pro446Ser Uncertain significance Single submitter
- BHLHE41 p.Pro449Gln Uncertain significance Single submitter
- BHLHE41 p.Ser119Phe Uncertain significance Single submitter
- BHLHE41 p.Ser274Thr Uncertain significance Single submitter
- BHLHE41 p.Ser324Asn Uncertain significance Single submitter
- BHLHE41 p.Ser357Cys Uncertain significance Single submitter
- BHLHE41 p.Thr100Asn Uncertain significance Single submitter
- BHLHE41 p.Val220Ile Uncertain significance Single submitter
- BHLHE41 p.Val263Ile Uncertain significance Single submitter
- BHLHE41 p.Val263Leu Uncertain significance Single submitter
All BHLHE41 variants
Benign 4
- p.Ala207= Single submitter
- p.Ala298Val Single submitter ⚠
- p.Ala428Thr Single submitter ⚠
- p.Leu372= Single submitter
Likely benign 12
- p.Ala360= Multiple submitters
- p.Arg34= Single submitter
- p.Gly292= Single submitter
- p.Gly332= Single submitter
- p.Leu441Pro Single submitter
- p.Thr238= Single submitter
- p.Tyr145= Single submitter
- p.Ala380= No assertion criteria BHLHE41-related disorder
- p.Ala431_Thr432insAla No assertion criteria BHLHE41-related disorder
- p.Leu282= No assertion criteria BHLHE41-related disorder
- p.Leu441= No assertion criteria BHLHE41-related disorder
- p.Leu93= No assertion criteria BHLHE41-related disorder
Uncertain significance 84
- p.Ala170Val Single submitter ⚠
- p.Ala228Thr Single submitter ⚠
- p.Ala260Thr Single submitter ⚠
- p.Ala299Val Single submitter ⚠
- p.Ala301Thr Single submitter ⚠
- p.Ala302Asp Single submitter ⚠
- p.Ala311Asp Single submitter ⚠
- p.Ala343Pro Single submitter ⚠
- p.Ala344Ser Single submitter ⚠
- p.Ala382Val Single submitter ⚠
- p.Ala399Val Single submitter ⚠
- p.Ala409_Ala411del Single submitter
- p.Ala409Thr Single submitter ⚠
- p.Ala411Glu Single submitter ⚠
- p.Ala65Ser Single submitter ⚠
- p.Arg252Leu Single submitter ⚠
- p.Arg317Ile Single submitter ⚠
- p.Arg317Lys Single submitter ⚠
- p.Arg461Gly Single submitter ⚠
- p.Asn234Lys Single submitter ⚠
- p.Asp23Glu Single submitter ⚠
- p.Asp283His Single submitter ⚠
- p.Cys63Trp Single submitter ⚠
- p.Cys63Tyr Single submitter ⚠
- p.Gln125Glu Single submitter ⚠
- p.Gln12Glu Single submitter ⚠
- p.Gln209Arg Single submitter ⚠
- p.Gln267His Single submitter ⚠
- p.Gln339Pro Single submitter ⚠
- p.Gln364His Single submitter ⚠
- p.Glu117Lys Single submitter ⚠
- p.Glu156Gly Single submitter ⚠
- p.Glu245Lys Single submitter ⚠
- p.Glu253Lys Single submitter ⚠
- p.Gly243Ser Single submitter ⚠
- p.Gly259Glu Single submitter ⚠
- p.Gly287Asp Single submitter ⚠
- p.Gly288Arg Single submitter ⚠
- p.Gly288Ser Single submitter ⚠
- p.Gly295Arg Single submitter ⚠
- p.Gly391Ser Single submitter ⚠
- p.His445Pro Single submitter ⚠
- p.Ile221Met Single submitter ⚠
- p.Leu186Met Single submitter ⚠
- p.Leu204Met Single submitter ⚠
- p.Leu211Pro Single submitter ⚠
- p.Leu367Gln Single submitter ⚠
- p.Leu455Arg Single submitter ⚠
- p.Lys254Asn Single submitter ⚠
- p.Lys256Arg Single submitter ⚠
- p.Lys256Glu Single submitter ⚠
- p.Phe385Tyr Single submitter ⚠
- p.Pro177Ala Single submitter ⚠
- p.Pro32Ser Single submitter ⚠
- p.Pro336Ser Single submitter ⚠
- p.Pro338Leu Single submitter ⚠
- p.Pro338Ser Single submitter ⚠
- p.Pro340Leu Single submitter ⚠
- p.Pro365Ser Single submitter ⚠
- p.Pro390Ser Single submitter ⚠
- p.Pro421Leu Single submitter ⚠
- p.Pro421Thr Single submitter ⚠
- p.Pro422Ser Single submitter ⚠
- p.Pro440Ala Single submitter ⚠
- p.Pro446Arg Single submitter ⚠
- p.Pro446Ser Single submitter ⚠
- p.Pro449Gln Single submitter ⚠
- p.Pro460Ser Single submitter ⚠
- p.Pro463Arg Single submitter ⚠
- p.Ser119Phe Single submitter ⚠
- p.Ser187Arg Single submitter ⚠
- p.Ser274Thr Single submitter ⚠
- p.Ser289_Gly292del Single submitter
- p.Ser289Gly Single submitter ⚠
- p.Ser324Asn Single submitter ⚠
- p.Ser357Cys Single submitter ⚠
- p.Thr100Asn Single submitter ⚠
- p.Thr432Ala Single submitter ⚠
- p.Tyr24Cys Single submitter ⚠
- p.Tyr28Cys Single submitter ⚠
- p.Val184Ile Single submitter ⚠
- p.Val220Ile Single submitter ⚠
- p.Val263Ile Single submitter ⚠
- p.Val263Leu Single submitter ⚠