LEO1 — 100 ClinVar variants
All ClinVar germline LEO1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 78 flagged for review →
3 Likely pathogenic · 4 Benign · 8 Likely benign · 85 Uncertain significance
Full LEO1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 78
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 53
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
LEO1 p.Ser507Pro
Uncertain significance
Multiple submitters
LEO1-related neurodevelopmental disorder
- LEO1 p.Ala12Ser Uncertain significance Single submitter
- LEO1 p.Ala132Thr Uncertain significance Single submitter
- LEO1 p.Ala274Val Uncertain significance Single submitter
- LEO1 p.Arg285Gln Uncertain significance Single submitter
- LEO1 p.Arg288His Uncertain significance Single submitter
- LEO1 p.Arg411Gly Uncertain significance Single submitter
- LEO1 p.Arg426Gln Uncertain significance Single submitter
- LEO1 p.Arg502Thr Uncertain significance Single submitter
- LEO1 p.Arg557Lys Uncertain significance Single submitter
-
LEO1 p.Arg574Gln
Uncertain significance
Single submitter
LEO1-related disorder
- LEO1 p.Asn114Lys Uncertain significance Single submitter
- LEO1 p.Asn33Ile Uncertain significance Single submitter
- LEO1 p.Asn371Lys Uncertain significance Single submitter
- LEO1 p.Asp180Glu Uncertain significance Single submitter
- LEO1 p.Asp214Glu Uncertain significance Single submitter
- LEO1 p.Asp230Glu Uncertain significance Single submitter
- LEO1 p.Asp255Gly Uncertain significance Single submitter
- LEO1 p.Asp299Gly Uncertain significance Single submitter
- LEO1 p.Asp644Glu Uncertain significance Single submitter
- LEO1 p.Asp646Asn Uncertain significance Single submitter
- LEO1 p.Gln160His Uncertain significance Single submitter
- LEO1 p.Gln169Glu Uncertain significance Single submitter
- LEO1 p.Glu157Asp Uncertain significance Single submitter
- LEO1 p.Glu200Asp Uncertain significance Single submitter
- LEO1 p.Glu207Gly Uncertain significance Single submitter
- LEO1 p.Glu208Asp Uncertain significance Single submitter
- LEO1 p.Glu340Ala Uncertain significance Single submitter
- LEO1 p.Glu455Lys Uncertain significance Single submitter
- LEO1 p.Glu615Asp Uncertain significance Single submitter
- LEO1 p.Glu643Asp Uncertain significance Single submitter
- LEO1 p.Glu67Asp Uncertain significance Single submitter
- LEO1 p.Gly125Ala Uncertain significance Single submitter
- LEO1 p.Gly51Asp Uncertain significance Single submitter
- LEO1 p.Gly9Arg Uncertain significance Single submitter
- LEO1 p.His561Tyr Uncertain significance Single submitter
- LEO1 p.His652Arg Uncertain significance Single submitter
- LEO1 p.His652Pro Uncertain significance Single submitter
- LEO1 p.Ile420Val Uncertain significance Single submitter
- LEO1 p.Leu7Val Uncertain significance Single submitter
- LEO1 p.Lys270Glu Uncertain significance Single submitter
- LEO1 p.Lys364Glu Uncertain significance Single submitter
- LEO1 p.Met312Thr Uncertain significance Single submitter
- LEO1 p.Met523Val Uncertain significance Single submitter
- LEO1 p.Phe8Cys Uncertain significance Single submitter
- LEO1 p.Pro217Arg Uncertain significance Single submitter
- LEO1 p.Pro352Ala Uncertain significance Single submitter
- LEO1 p.Ser277Thr Uncertain significance Single submitter
- LEO1 p.Ser444Leu Uncertain significance Single submitter
- LEO1 p.Ser449Phe Uncertain significance Single submitter
- LEO1 p.Thr496Met Uncertain significance Single submitter
- LEO1 p.Thr500Ile Uncertain significance Single submitter
- LEO1 p.Val441Ile Uncertain significance Single submitter
Predictors split 25
The independent predictors disagree with each other — read with care.
- LEO1 p.Arg216Leu Uncertain significance Single submitter
- LEO1 p.Arg216Trp Uncertain significance Single submitter
- LEO1 p.Arg288Cys Uncertain significance Single submitter
- LEO1 p.Arg425Pro Uncertain significance Single submitter
- LEO1 p.Arg526Cys Uncertain significance Single submitter
- LEO1 p.Arg554His Uncertain significance Single submitter
- LEO1 p.Arg563Gln Uncertain significance Single submitter
- LEO1 p.Arg602Gln Uncertain significance Single submitter
- LEO1 p.Arg93Cys Uncertain significance Single submitter
- LEO1 p.Arg93Leu Uncertain significance Single submitter
-
LEO1 p.Asn380Ser
Uncertain significance
Single submitter
LEO1-related disorder
- LEO1 p.Asp181Gly Uncertain significance Single submitter
- LEO1 p.Asp230Val Uncertain significance Single submitter
- LEO1 p.Asp248His Uncertain significance Single submitter
- LEO1 p.Asp64Tyr Uncertain significance Single submitter
- LEO1 p.Gln392His Uncertain significance Single submitter
- LEO1 p.Glu111Val Uncertain significance Single submitter
- LEO1 p.Glu257Lys Uncertain significance Single submitter
- LEO1 p.His561Gln Uncertain significance Single submitter
- LEO1 p.Ile321Val Uncertain significance Single submitter
- LEO1 p.Leu373Val Uncertain significance Single submitter
- LEO1 p.Lys595Asn Uncertain significance Single submitter
- LEO1 p.Ser205Pro Uncertain significance Single submitter
- LEO1 p.Ser84Leu Uncertain significance Single submitter
- LEO1 p.Ser84Pro Uncertain significance Single submitter
All LEO1 variants
Likely pathogenic 3
- p.Gln203Ter Single submitter Male infertility with azoospermia or oligozoospermia due to single gene mutation
- p.Leu471Ile Single submitter
- p.Pro493Arg Single submitter
Benign 4
- p.Arg275Gly No assertion criteria LEO1-related disorder
- p.Asp609= No assertion criteria LEO1-related disorder
- p.Leu414= No assertion criteria LEO1-related disorder
- p.Ser21= No assertion criteria LEO1-related disorder
Likely benign 8
- p.Ala298Val Single submitter
- p.Arg492= Single submitter
- p.Val218Ala Single submitter
- c.1341-3C>T No assertion criteria LEO1-related disorder
- c.1897-3305G>T No assertion criteria LEO1-related disorder
- p.Ala298= No assertion criteria LEO1-related disorder
- p.Asn371= No assertion criteria LEO1-related disorder
- p.Glu663Asp No assertion criteria LEO1-related disorder
Uncertain significance 85
- p.Ser507Pro Multiple submitters LEO1-related neurodevelopmental disorder ⚠
- c.1246-11T>G Single submitter LEO1-related disorder
- p.Ala12Ser Single submitter ⚠
- p.Ala132Thr Single submitter ⚠
- p.Ala274Val Single submitter ⚠
- p.Arg216Leu Single submitter ⚠
- p.Arg216Trp Single submitter ⚠
- p.Arg285Gln Single submitter ⚠
- p.Arg288Cys Single submitter ⚠
- p.Arg288His Single submitter ⚠
- p.Arg411Gly Single submitter ⚠
- p.Arg425Pro Single submitter ⚠
- p.Arg426Gln Single submitter ⚠
- p.Arg502Thr Single submitter ⚠
- p.Arg526Cys Single submitter ⚠
- p.Arg554His Single submitter ⚠
- p.Arg555Ter Single submitter
- p.Arg557Lys Single submitter ⚠
- p.Arg563Gln Single submitter ⚠
- p.Arg574Gln Single submitter LEO1-related disorder ⚠
- p.Arg602Gln Single submitter ⚠
- p.Arg93Cys Single submitter ⚠
- p.Arg93Leu Single submitter ⚠
- p.Asn114Lys Single submitter ⚠
- p.Asn33Ile Single submitter ⚠
- p.Asn371Lys Single submitter ⚠
- p.Asn380Ser Single submitter LEO1-related disorder ⚠
- p.Asp180Glu Single submitter ⚠
- p.Asp181Gly Single submitter ⚠
- p.Asp214Glu Single submitter ⚠
- p.Asp223fs Single submitter LEO1-related disorder
- p.Asp230Glu Single submitter ⚠
- p.Asp230Val Single submitter ⚠
- p.Asp248His Single submitter ⚠
- p.Asp255Gly Single submitter ⚠
- p.Asp299Gly Single submitter ⚠
- p.Asp644Glu Single submitter ⚠
- p.Asp646Asn Single submitter ⚠
- p.Asp64Tyr Single submitter ⚠
- p.Gln160His Single submitter ⚠
- p.Gln169Glu Single submitter ⚠
- p.Gln392His Single submitter ⚠
- p.Gln392Ter Single submitter
- p.Glu111Val Single submitter ⚠
- p.Glu157Asp Single submitter ⚠
- p.Glu200Asp Single submitter ⚠
- p.Glu207Gly Single submitter ⚠
- p.Glu208Asp Single submitter ⚠
- p.Glu257Lys Single submitter ⚠
- p.Glu340Ala Single submitter ⚠
- p.Glu455Lys Single submitter ⚠
- p.Glu541_Arg542delinsGly Single submitter
- p.Glu615Asp Single submitter ⚠
- p.Glu643Asp Single submitter ⚠
- p.Glu67Asp Single submitter ⚠
- p.Gly125Ala Single submitter ⚠
- p.Gly51Asp Single submitter ⚠
- p.Gly9Arg Single submitter ⚠
- p.His561Gln Single submitter ⚠
- p.His561Tyr Single submitter ⚠
- p.His652Arg Single submitter ⚠
- p.His652Pro Single submitter ⚠
- p.Ile321Val Single submitter ⚠
- p.Ile420Val Single submitter ⚠
- p.Leu373Val Single submitter ⚠
- p.Leu628Phe Single submitter
- p.Leu7Val Single submitter ⚠
- p.Lys270Glu Single submitter ⚠
- p.Lys364Glu Single submitter ⚠
- p.Lys595Asn Single submitter ⚠
- p.Met312Thr Single submitter ⚠
- p.Met523Val Single submitter ⚠
- p.Phe8Cys Single submitter ⚠
- p.Pro217Arg Single submitter ⚠
- p.Pro352Ala Single submitter ⚠
- p.Ser205Pro Single submitter ⚠
- p.Ser277Thr Single submitter ⚠
- p.Ser444Leu Single submitter ⚠
- p.Ser449Phe Single submitter ⚠
- p.Ser84Leu Single submitter ⚠
- p.Ser84Pro Single submitter ⚠
- p.Thr496Met Single submitter ⚠
- p.Thr500Ile Single submitter ⚠
- p.Tyr575Ter Single submitter
- p.Val441Ile Single submitter ⚠