BHLHA15 — 42 ClinVar variants
All ClinVar germline BHLHA15 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 41 flagged for review →
2 Likely benign · 40 Uncertain significance
Full BHLHA15 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 41
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 24
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- BHLHA15 p.Ala163Val Uncertain significance Single submitter
- BHLHA15 p.Ala49Ser Uncertain significance Single submitter
- BHLHA15 p.Arg138Cys Uncertain significance Single submitter
- BHLHA15 p.Arg47Gln Uncertain significance Single submitter
- BHLHA15 p.Arg51Lys Uncertain significance Single submitter
- BHLHA15 p.Arg6Gln Uncertain significance Single submitter
- BHLHA15 p.Arg77Trp Uncertain significance Single submitter
- BHLHA15 p.Arg87Trp Uncertain significance Single submitter
- BHLHA15 p.Arg99His Uncertain significance Single submitter
- BHLHA15 p.Asn32Lys Uncertain significance Single submitter
- BHLHA15 p.Gln15Glu Uncertain significance Single submitter
- BHLHA15 p.Gln181Lys Uncertain significance Single submitter
- BHLHA15 p.Glu168Asp Uncertain significance Single submitter
- BHLHA15 p.Glu82Gln Uncertain significance Single submitter
- BHLHA15 p.Gly65Arg Uncertain significance Single submitter
- BHLHA15 p.His104Asn Uncertain significance Single submitter
- BHLHA15 p.His183Tyr Uncertain significance Single submitter
- BHLHA15 p.Ile74Asn Uncertain significance Single submitter
- BHLHA15 p.Lys148Gln Uncertain significance Single submitter
- BHLHA15 p.Lys39Asn Uncertain significance Single submitter
- BHLHA15 p.Pro171Ser Uncertain significance Single submitter
- BHLHA15 p.Ser136Asn Uncertain significance Single submitter
- BHLHA15 p.Ser73Gly Uncertain significance Single submitter
- BHLHA15 p.Thr20Ser Uncertain significance Single submitter
Predictors split 17
The independent predictors disagree with each other — read with care.
- BHLHA15 p.Ala107Thr Uncertain significance Single submitter
- BHLHA15 p.Arg10Cys Uncertain significance Single submitter
- BHLHA15 p.Arg11Gln Uncertain significance Single submitter
- BHLHA15 p.Arg11Trp Uncertain significance Single submitter
- BHLHA15 p.Arg44Gln Uncertain significance Single submitter
- BHLHA15 p.Arg58Cys Uncertain significance Single submitter
- BHLHA15 p.Arg60Trp Uncertain significance Single submitter
- BHLHA15 p.Arg6Trp Uncertain significance Single submitter
- BHLHA15 p.Arg9Trp Uncertain significance Single submitter
- BHLHA15 p.Gly67Asp Uncertain significance Single submitter
- BHLHA15 p.Leu175Pro Uncertain significance Single submitter
- BHLHA15 p.Pro37Leu Likely benign Single submitter
- BHLHA15 p.Pro45Leu Uncertain significance Single submitter
- BHLHA15 p.Pro63Thr Uncertain significance Single submitter
- BHLHA15 p.Ser64Phe Uncertain significance Single submitter
- BHLHA15 p.Ser72Thr Uncertain significance Single submitter
- BHLHA15 p.Thr25Met Uncertain significance Single submitter
All BHLHA15 variants
Likely benign 2
- p.Gly28Arg Single submitter
- p.Pro37Leu Single submitter ⚠
Uncertain significance 40
- p.Ala107Thr Single submitter ⚠
- p.Ala163Val Single submitter ⚠
- p.Ala49Ser Single submitter ⚠
- p.Arg10Cys Single submitter ⚠
- p.Arg11Gln Single submitter ⚠
- p.Arg11Trp Single submitter ⚠
- p.Arg138Cys Single submitter ⚠
- p.Arg44Gln Single submitter ⚠
- p.Arg47Gln Single submitter ⚠
- p.Arg51Lys Single submitter ⚠
- p.Arg58Cys Single submitter ⚠
- p.Arg60Trp Single submitter ⚠
- p.Arg6Gln Single submitter ⚠
- p.Arg6Trp Single submitter ⚠
- p.Arg77Trp Single submitter ⚠
- p.Arg87Trp Single submitter ⚠
- p.Arg99His Single submitter ⚠
- p.Arg9Trp Single submitter ⚠
- p.Asn32Lys Single submitter ⚠
- p.Gln15Glu Single submitter ⚠
- p.Gln181Lys Single submitter ⚠
- p.Glu168Asp Single submitter ⚠
- p.Glu82Gln Single submitter ⚠
- p.Gly65Arg Single submitter ⚠
- p.Gly67Asp Single submitter ⚠
- p.His104Asn Single submitter ⚠
- p.His183Tyr Single submitter ⚠
- p.Ile74Asn Single submitter ⚠
- p.Leu175Pro Single submitter ⚠
- p.Lys148Gln Single submitter ⚠
- p.Lys39Asn Single submitter ⚠
- p.Pro171Ser Single submitter ⚠
- p.Pro45Leu Single submitter ⚠
- p.Pro63Thr Single submitter ⚠
- p.Ser136Asn Single submitter ⚠
- p.Ser64Phe Single submitter ⚠
- p.Ser72Thr Single submitter ⚠
- p.Ser73Gly Single submitter ⚠
- p.Thr20Ser Single submitter ⚠
- p.Thr25Met Single submitter ⚠