BET1L — 24 ClinVar variants
All ClinVar germline BET1L variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 22 flagged for review →
1 Benign · 1 Likely benign · 22 Uncertain significance
Full BET1L gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 22
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 14
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- BET1L p.Arg108Gly Uncertain significance Single submitter
- BET1L p.Arg44Lys Uncertain significance Single submitter
- BET1L p.Asn21Lys Uncertain significance Single submitter
- BET1L p.Asn50Thr Uncertain significance Single submitter
- BET1L p.Asp3His Uncertain significance Single submitter
- BET1L p.Asp83Glu Uncertain significance Single submitter
- BET1L p.Gln49Pro Uncertain significance Single submitter
- BET1L p.Ile96Thr Uncertain significance Single submitter
- BET1L p.Leu102Phe Uncertain significance Single submitter
- BET1L p.Leu17Val Uncertain significance Single submitter
- BET1L p.Met77Val Uncertain significance Single submitter
- BET1L p.Ser30Pro Uncertain significance Single submitter
- BET1L p.Thr111Met Uncertain significance Single submitter
- BET1L p.Val93Met Uncertain significance Single submitter
Predictors split 8
The independent predictors disagree with each other — read with care.
- BET1L p.Arg19Trp Uncertain significance Single submitter
- BET1L p.Arg73His Uncertain significance Single submitter
- BET1L p.Arg85Trp Uncertain significance Single submitter
- BET1L p.Asn50His Uncertain significance Single submitter
- BET1L p.Gly81Arg Uncertain significance Single submitter
- BET1L p.Pro10Leu Uncertain significance Single submitter
- BET1L p.Ser27Ile Uncertain significance Single submitter
- BET1L p.Ser37Leu Uncertain significance Single submitter
All BET1L variants
Benign 1
- c.-59_-39dup Single submitter
Likely benign 1
- p.Ala29= Single submitter
Uncertain significance 22
- p.Arg108Gly Single submitter ⚠
- p.Arg19Trp Single submitter ⚠
- p.Arg44Lys Single submitter ⚠
- p.Arg73His Single submitter ⚠
- p.Arg85Trp Single submitter ⚠
- p.Asn21Lys Single submitter ⚠
- p.Asn50His Single submitter ⚠
- p.Asn50Thr Single submitter ⚠
- p.Asp3His Single submitter ⚠
- p.Asp83Glu Single submitter ⚠
- p.Gln49Pro Single submitter ⚠
- p.Gly81Arg Single submitter ⚠
- p.Ile96Thr Single submitter ⚠
- p.Leu102Phe Single submitter ⚠
- p.Leu17Val Single submitter ⚠
- p.Met77Val Single submitter ⚠
- p.Pro10Leu Single submitter ⚠
- p.Ser27Ile Single submitter ⚠
- p.Ser30Pro Single submitter ⚠
- p.Ser37Leu Single submitter ⚠
- p.Thr111Met Single submitter ⚠
- p.Val93Met Single submitter ⚠