BHLHE22 — 74 ClinVar variants

All ClinVar germline BHLHE22 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 67 flagged for review →

1 Pathogenic/Likely pathogenic · 2 Likely pathogenic · 4 Likely benign · 67 Uncertain significance

Full BHLHE22 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 67

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 32

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 35

The independent predictors disagree with each other — read with care.

All BHLHE22 variants

Pathogenic/Likely pathogenic 1

p.Gly74fs Multiple submitters BHLHE22-related disorder

Likely pathogenic 2

p.Glu251Gln Single submitter BHLHE22-related disorder
p.Met255Arg Single submitter BHLHE22-related disorder

Likely benign 4

p.Gly220= Multiple submitters
p.219SG[4] Single submitter
p.Ser219Gly Single submitter
p.Ser227Gly Single submitter

Uncertain significance 67

p.Ala11Val Single submitter ⚠
p.Ala12Thr Single submitter ⚠
p.Ala173Val Single submitter ⚠
p.Ala25Ser Single submitter ⚠
p.Ala299Thr Single submitter ⚠
p.Ala329Thr Single submitter ⚠
p.Ala345Val Single submitter ⚠
p.Ala34Gly Single submitter ⚠
p.Ala88Val Single submitter ⚠
p.Ala9Pro Single submitter ⚠
p.Arg3Ser Single submitter ⚠
p.Asn186Asp Single submitter ⚠
p.Asp69Glu Single submitter ⚠
p.Gln314Glu Single submitter ⚠
p.Gln343Pro Single submitter ⚠
p.Glu379Gly Single submitter ⚠
p.Glu66Gln Single submitter ⚠
p.Glu71Lys Single submitter ⚠
p.Gly102Ala Single submitter ⚠
p.Gly109Asp Single submitter ⚠
p.Gly109Ser Single submitter ⚠
p.Gly136Arg Single submitter ⚠
p.Gly136Asp Single submitter ⚠
p.Gly13Arg Single submitter ⚠
p.Gly13Asp Single submitter ⚠
p.Gly172Arg Single submitter ⚠
p.Gly183Asp Single submitter ⚠
p.Gly199Asp Single submitter ⚠
p.Gly202Cys Single submitter ⚠
p.Gly222Ser Single submitter ⚠
p.Gly224Ala Single submitter ⚠
p.Gly224Ser Single submitter ⚠
p.Gly225Ser Single submitter ⚠
p.Gly352Ala Single submitter ⚠
p.Gly72Arg Single submitter ⚠
p.Gly8Asp Single submitter ⚠
p.Gly8Cys Single submitter ⚠
p.Gly93Asp Single submitter ⚠
p.Gly96Asp Single submitter ⚠
p.Gly96Ser Single submitter ⚠
p.Gly97Arg Single submitter ⚠
p.Leu19Pro Single submitter ⚠
p.Leu321Val Single submitter ⚠
p.Leu62Val Single submitter ⚠
p.Leu7Arg Single submitter ⚠
p.Lys128Asn Single submitter ⚠
p.Lys241Asn Single submitter ⚠
p.Pro196Ser Single submitter ⚠
p.Pro196Thr Single submitter ⚠
p.Pro354Ser Single submitter ⚠
p.Pro78Arg Single submitter ⚠
p.Ser210Thr Single submitter ⚠
p.Ser227Asn Single submitter ⚠
p.Ser227Thr Single submitter ⚠
p.Ser228Gly Single submitter ⚠
p.Ser22Asn Single submitter ⚠
p.Ser230Arg Single submitter ⚠
p.Ser230Thr Single submitter ⚠
p.Ser231Gly Single submitter ⚠
p.Ser231Thr Single submitter ⚠
p.Ser233Arg Single submitter ⚠
p.Ser234Thr Single submitter ⚠
p.Ser276Ala Single submitter ⚠
p.Ser372Arg Single submitter ⚠
p.Ser372Asn Single submitter ⚠
p.Ser90Ile Single submitter ⚠
p.Thr378Lys Single submitter ⚠