LBX1 — 31 ClinVar variants
All ClinVar germline LBX1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 22 flagged for review →
1 Conflicting · 3 Benign · 1 Likely benign · 26 Uncertain significance
Full LBX1 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 18
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- LBX1 p.Ala228Pro Uncertain significance Single submitter
- LBX1 p.Ala241Asp Uncertain significance Single submitter
- LBX1 p.Ala241Ser Uncertain significance Single submitter
- LBX1 p.Ala56Ser Uncertain significance Single submitter
- LBX1 p.Ala67Thr Uncertain significance Single submitter
- LBX1 p.Ala77Pro Uncertain significance Single submitter
- LBX1 p.Arg16Gln Uncertain significance Single submitter
- LBX1 p.Asp274Glu Uncertain significance Single submitter
- LBX1 p.Gly70Ala Uncertain significance Single submitter
- LBX1 p.Gly75Ser Uncertain significance Single submitter
- LBX1 p.Leu59Pro Uncertain significance Single submitter
- LBX1 p.Pro238His Uncertain significance Single submitter
- LBX1 p.Pro239Arg Uncertain significance Single submitter
- LBX1 p.Pro242Thr Uncertain significance Single submitter
- LBX1 p.Pro257Leu Uncertain significance Single submitter
- LBX1 p.Ser200Asn Uncertain significance Single submitter
- LBX1 p.Thr259Met Uncertain significance Single submitter
- LBX1 p.Val279Met Uncertain significance Single submitter
Predictors split 4
The independent predictors disagree with each other — read with care.
All LBX1 variants
Conflicting classifications of pathogenicity 1
- p.Val236fs Single submitter central hypoventilation syndrome, congenital, 3
Benign 3
- p.Arg76= Multiple submitters
- p.Pro238= Multiple submitters
- c.326-187C>A Single submitter
Likely benign 1
- p.Gln68Pro Single submitter
Uncertain significance 26
- p.Ala107Val Single submitter ⚠
- p.Ala228Pro Single submitter ⚠
- p.Ala241Asp Single submitter ⚠
- p.Ala241Ser Single submitter ⚠
- p.Ala56Ser Single submitter ⚠
- p.Ala67Thr Single submitter ⚠
- p.Ala74Glu Single submitter
- p.Ala77Pro Single submitter ⚠
- p.Arg16Gln Single submitter ⚠
- p.Arg48Gly Single submitter
- p.Arg76Cys Single submitter ⚠
- p.Asp274Asn Single submitter
- p.Asp274Glu Single submitter ⚠
- p.Glu275Lys Single submitter
- p.Glu276Asp Single submitter ⚠
- p.Gly70Ala Single submitter ⚠
- p.Gly75Ser Single submitter ⚠
- p.Leu59Pro Single submitter ⚠
- p.Pro238His Single submitter ⚠
- p.Pro239Arg Single submitter ⚠
- p.Pro242Thr Single submitter ⚠
- p.Pro257Leu Single submitter ⚠
- p.Pro45Thr Single submitter ⚠
- p.Ser200Asn Single submitter ⚠
- p.Thr259Met Single submitter ⚠
- p.Val279Met Single submitter ⚠