BHLHE40 — 63 ClinVar variants
All ClinVar germline BHLHE40 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 60 flagged for review →
3 Likely benign · 60 Uncertain significance
Full BHLHE40 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 60
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 57
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- BHLHE40 p.Ala12Ser Uncertain significance Single submitter
- BHLHE40 p.Ala195Val Uncertain significance Single submitter
- BHLHE40 p.Ala228Thr Uncertain significance Single submitter
- BHLHE40 p.Ala277Ser Uncertain significance Single submitter
- BHLHE40 p.Arg151Gln Uncertain significance Single submitter
- BHLHE40 p.Arg164Gln Uncertain significance Single submitter
- BHLHE40 p.Arg164Trp Uncertain significance Single submitter
- BHLHE40 p.Arg177Gln Uncertain significance Single submitter
- BHLHE40 p.Arg189Gly Uncertain significance Single submitter
- BHLHE40 p.Arg255His Uncertain significance Single submitter
- BHLHE40 p.Arg267Cys Uncertain significance Single submitter
- BHLHE40 p.Asp369Glu Uncertain significance Single submitter
- BHLHE40 p.Asp392Asn Uncertain significance Single submitter
- BHLHE40 p.Glu129Lys Uncertain significance Single submitter
- BHLHE40 p.Glu136Lys Uncertain significance Single submitter
- BHLHE40 p.Gly124Ala Uncertain significance Single submitter
- BHLHE40 p.Gly185Val Uncertain significance Single submitter
- BHLHE40 p.Gly276Val Uncertain significance Single submitter
- BHLHE40 p.Gly299Asp Uncertain significance Single submitter
- BHLHE40 p.Gly313Ser Uncertain significance Single submitter
- BHLHE40 p.His160Gln Uncertain significance Single submitter
- BHLHE40 p.His160Tyr Uncertain significance Single submitter
- BHLHE40 p.His174Gln Uncertain significance Single submitter
- BHLHE40 p.His22Gln Uncertain significance Single submitter
- BHLHE40 p.His22Tyr Uncertain significance Single submitter
- BHLHE40 p.Ile278Val Uncertain significance Single submitter
- BHLHE40 p.Leu166Val Uncertain significance Single submitter
- BHLHE40 p.Leu312Pro Uncertain significance Single submitter
- BHLHE40 p.Leu375Phe Uncertain significance Single submitter
- BHLHE40 p.Leu376Phe Uncertain significance Single submitter
- BHLHE40 p.Lys16Asn Uncertain significance Single submitter
- BHLHE40 p.Lys16Gln Uncertain significance Single submitter
- BHLHE40 p.Lys16Thr Uncertain significance Single submitter
- BHLHE40 p.Lys202Asn Uncertain significance Single submitter
- BHLHE40 p.Lys210Ile Uncertain significance Single submitter
- BHLHE40 p.Lys217Glu Uncertain significance Single submitter
- BHLHE40 p.Met33Val Uncertain significance Single submitter
- BHLHE40 p.Met366Val Uncertain significance Single submitter
- BHLHE40 p.Phe365Val Uncertain significance Single submitter
- BHLHE40 p.Pro10Ser Uncertain significance Single submitter
- BHLHE40 p.Pro11Arg Uncertain significance Single submitter
- BHLHE40 p.Pro11Leu Uncertain significance Single submitter
- BHLHE40 p.Pro15Ser Uncertain significance Single submitter
- BHLHE40 p.Pro286Ser Uncertain significance Single submitter
- BHLHE40 p.Pro310Ala Uncertain significance Single submitter
- BHLHE40 p.Pro310Thr Uncertain significance Single submitter
- BHLHE40 p.Pro316Gln Uncertain significance Single submitter
- BHLHE40 p.Pro368Ser Uncertain significance Single submitter
- BHLHE40 p.Pro384Ser Uncertain significance Single submitter
- BHLHE40 p.Ser144Ala Uncertain significance Single submitter
- BHLHE40 p.Ser180Leu Uncertain significance Single submitter
- BHLHE40 p.Ser212Leu Uncertain significance Single submitter
- BHLHE40 p.Ser304Arg Uncertain significance Single submitter
- BHLHE40 p.Thr287Ala Uncertain significance Single submitter
- BHLHE40 p.Tyr29Cys Uncertain significance Single submitter
- BHLHE40 p.Val178Leu Uncertain significance Single submitter
- BHLHE40 p.Val36Ala Uncertain significance Single submitter
Predictors split 3
The independent predictors disagree with each other — read with care.
All BHLHE40 variants
Likely benign 3
- p.Ala277Thr Single submitter
- p.Gln293= Single submitter
- p.Val391Ile Single submitter
Uncertain significance 60
- p.Ala12Ser Single submitter ⚠
- p.Ala195Val Single submitter ⚠
- p.Ala228Thr Single submitter ⚠
- p.Ala277Ser Single submitter ⚠
- p.Arg151Gln Single submitter ⚠
- p.Arg164Gln Single submitter ⚠
- p.Arg164Trp Single submitter ⚠
- p.Arg177Gln Single submitter ⚠
- p.Arg189Gly Single submitter ⚠
- p.Arg225Gln Single submitter ⚠
- p.Arg255His Single submitter ⚠
- p.Arg267Cys Single submitter ⚠
- p.Asp369Glu Single submitter ⚠
- p.Asp392Asn Single submitter ⚠
- p.Glu129Lys Single submitter ⚠
- p.Glu136Lys Single submitter ⚠
- p.Gly124Ala Single submitter ⚠
- p.Gly185Val Single submitter ⚠
- p.Gly276Val Single submitter ⚠
- p.Gly299Asp Single submitter ⚠
- p.Gly313Ser Single submitter ⚠
- p.His160Gln Single submitter ⚠
- p.His160Tyr Single submitter ⚠
- p.His174Gln Single submitter ⚠
- p.His22Gln Single submitter ⚠
- p.His22Tyr Single submitter ⚠
- p.Ile278Val Single submitter ⚠
- p.Leu166Val Single submitter ⚠
- p.Leu312Pro Single submitter ⚠
- p.Leu375Phe Single submitter ⚠
- p.Leu376Phe Single submitter ⚠
- p.Lys16Asn Single submitter ⚠
- p.Lys16Gln Single submitter ⚠
- p.Lys16Thr Single submitter ⚠
- p.Lys202Asn Single submitter ⚠
- p.Lys210Ile Single submitter ⚠
- p.Lys217Glu Single submitter ⚠
- p.Lys341Asn Single submitter ⚠
- p.Met33Val Single submitter ⚠
- p.Met366Val Single submitter ⚠
- p.Phe365Val Single submitter ⚠
- p.Pro10Ser Single submitter ⚠
- p.Pro11Arg Single submitter ⚠
- p.Pro11Leu Single submitter ⚠
- p.Pro15Ser Single submitter ⚠
- p.Pro286Ser Single submitter ⚠
- p.Pro310Ala Single submitter ⚠
- p.Pro310Thr Single submitter ⚠
- p.Pro316Gln Single submitter ⚠
- p.Pro368Ser Single submitter ⚠
- p.Pro384Ser Single submitter ⚠
- p.Ser144Ala Single submitter ⚠
- p.Ser180Leu Single submitter ⚠
- p.Ser212Leu Single submitter ⚠
- p.Ser304Arg Single submitter ⚠
- p.Thr287Ala Single submitter ⚠
- p.Tyr29Cys Single submitter ⚠
- p.Val153Met Single submitter ⚠
- p.Val178Leu Single submitter ⚠
- p.Val36Ala Single submitter ⚠