LBHD1 — 46 ClinVar variants
All ClinVar germline LBHD1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 46 flagged for review →
2 Likely benign · 44 Uncertain significance
Full LBHD1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 46
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 31
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- LBHD1 p.Ala107Ser Uncertain significance Single submitter
- LBHD1 p.Ala122Thr Uncertain significance Single submitter
- LBHD1 p.Ala181Val Uncertain significance Single submitter
- LBHD1 p.Ala260Thr Uncertain significance Single submitter
- LBHD1 p.Arg160His Uncertain significance Single submitter
- LBHD1 p.Arg232Gly Uncertain significance Single submitter
- LBHD1 p.Arg7Lys Uncertain significance Single submitter
- LBHD1 p.Asp112Gly Uncertain significance Single submitter
- LBHD1 p.Gln130His Uncertain significance Single submitter
- LBHD1 p.Gln23His Uncertain significance Single submitter
- LBHD1 p.Glu102Gly Uncertain significance Single submitter
- LBHD1 p.Glu179Lys Uncertain significance Single submitter
- LBHD1 p.Gly165Ser Uncertain significance Single submitter
- LBHD1 p.Gly202Ser Uncertain significance Single submitter
- LBHD1 p.Gly203Asp Uncertain significance Single submitter
- LBHD1 p.His48Tyr Uncertain significance Single submitter
- LBHD1 p.Ile61Val Uncertain significance Single submitter
- LBHD1 p.Leu124His Uncertain significance Single submitter
- LBHD1 p.Leu84Pro Uncertain significance Single submitter
- LBHD1 p.Phe153Cys Uncertain significance Single submitter
- LBHD1 p.Pro104Arg Uncertain significance Single submitter
- LBHD1 p.Pro116Ala Uncertain significance Single submitter
- LBHD1 p.Pro174Leu Uncertain significance Single submitter
- LBHD1 p.Pro175Ser Uncertain significance Single submitter
- LBHD1 p.Pro189Ser Uncertain significance Single submitter
- LBHD1 p.Pro31Ser Uncertain significance Single submitter
- LBHD1 p.Ser170Cys Uncertain significance Single submitter
- LBHD1 p.Ser177Thr Uncertain significance Single submitter
- LBHD1 p.Ser56Ala Uncertain significance Single submitter
- LBHD1 p.Ser8Arg Uncertain significance Single submitter
- LBHD1 p.Val192Gly Uncertain significance Single submitter
Predictors split 15
The independent predictors disagree with each other — read with care.
- LBHD1 p.Arg208Ile Uncertain significance Single submitter
- LBHD1 p.Arg210Lys Uncertain significance Single submitter
- LBHD1 p.Asp112Tyr Uncertain significance Single submitter
- LBHD1 p.Asp131Asn Uncertain significance Single submitter
- LBHD1 p.Asp207Glu Uncertain significance Single submitter
- LBHD1 p.Gln187Arg Uncertain significance Single submitter
- LBHD1 p.Glu219Gly Uncertain significance Single submitter
- LBHD1 p.Glu219Lys Likely benign Single submitter
- LBHD1 p.Gly253Arg Uncertain significance Single submitter
- LBHD1 p.Pro243Leu Uncertain significance Single submitter
- LBHD1 p.Pro59Leu Likely benign Single submitter
- LBHD1 p.Ser251Arg Uncertain significance Single submitter
- LBHD1 p.Ser72Arg Uncertain significance Single submitter
- LBHD1 p.Val43Phe Uncertain significance Single submitter
- LBHD1 p.Val62Ala Uncertain significance Single submitter
All LBHD1 variants
Likely benign 2
- p.Glu219Lys Single submitter ⚠
- p.Pro59Leu Single submitter ⚠
Uncertain significance 44
- p.Ala107Ser Single submitter ⚠
- p.Ala122Thr Single submitter ⚠
- p.Ala181Val Single submitter ⚠
- p.Ala260Thr Single submitter ⚠
- p.Arg160His Single submitter ⚠
- p.Arg208Ile Single submitter ⚠
- p.Arg210Lys Single submitter ⚠
- p.Arg232Gly Single submitter ⚠
- p.Arg7Lys Single submitter ⚠
- p.Asp112Gly Single submitter ⚠
- p.Asp112Tyr Single submitter ⚠
- p.Asp131Asn Single submitter ⚠
- p.Asp207Glu Single submitter ⚠
- p.Gln130His Single submitter ⚠
- p.Gln187Arg Single submitter ⚠
- p.Gln23His Single submitter ⚠
- p.Glu102Gly Single submitter ⚠
- p.Glu179Lys Single submitter ⚠
- p.Glu219Gly Single submitter ⚠
- p.Gly165Ser Single submitter ⚠
- p.Gly202Ser Single submitter ⚠
- p.Gly203Asp Single submitter ⚠
- p.Gly253Arg Single submitter ⚠
- p.His48Tyr Single submitter ⚠
- p.Ile61Val Single submitter ⚠
- p.Leu124His Single submitter ⚠
- p.Leu84Pro Single submitter ⚠
- p.Phe153Cys Single submitter ⚠
- p.Pro104Arg Single submitter ⚠
- p.Pro116Ala Single submitter ⚠
- p.Pro174Leu Single submitter ⚠
- p.Pro175Ser Single submitter ⚠
- p.Pro189Ser Single submitter ⚠
- p.Pro243Leu Single submitter ⚠
- p.Pro31Ser Single submitter ⚠
- p.Ser170Cys Single submitter ⚠
- p.Ser177Thr Single submitter ⚠
- p.Ser251Arg Single submitter ⚠
- p.Ser56Ala Single submitter ⚠
- p.Ser72Arg Single submitter ⚠
- p.Ser8Arg Single submitter ⚠
- p.Val192Gly Single submitter ⚠
- p.Val43Phe Single submitter ⚠
- p.Val62Ala Single submitter ⚠