LHB — 87 ClinVar variants
All ClinVar germline LHB variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 33 flagged for review →
6 Pathogenic · 16 Benign · 5 Benign/Likely benign · 26 Likely benign · 34 Uncertain significance
Full LHB gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 33
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 19
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
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LHB p.His30Arg
Uncertain significance
Multiple submitters
hypogonadotropic hypogonadism
- LHB p.Pro59Ala Uncertain significance Multiple submitters
- LHB p.Arg115His Uncertain significance Single submitter
- LHB p.Arg63His Uncertain significance Single submitter
- LHB p.Asp125Asn Uncertain significance Single submitter
- LHB p.Cys108Tyr Uncertain significance Single submitter
- LHB p.Glu39Lys Uncertain significance Single submitter
- LHB p.Gly111Ala Uncertain significance Single submitter
- LHB p.Gly17Arg Uncertain significance Single submitter
- LHB p.Leu4Phe Uncertain significance Single submitter
- LHB p.Leu7Met Uncertain significance Single submitter
- LHB p.Met62Ile Uncertain significance Single submitter
- LHB p.Met62Thr Uncertain significance Single submitter
- LHB p.Pro24Leu Uncertain significance Single submitter
- LHB p.Pro71Ala Uncertain significance Single submitter
- LHB p.Ser118Thr Uncertain significance Single submitter
- LHB p.Ser14Cys Uncertain significance Single submitter
- LHB p.Thr129Ile Uncertain significance Single submitter
- LHB p.Val45Met Uncertain significance Single submitter
Predictors split 14
The independent predictors disagree with each other — read with care.
- LHB p.Pro93Arg Uncertain significance Multiple submitters
-
LHB p.Thr78Asn
Benign/Likely benign
Multiple submitters
hypogonadotropic hypogonadism 23 with or without anosmia
-
LHB p.Val96Met
Uncertain significance
Multiple submitters
hypogonadotropic hypogonadism 23 with or without anosmia
- LHB p.Arg63Cys Uncertain significance Single submitter
- LHB p.Arg94Cys Uncertain significance Single submitter
- LHB p.Asn33Ser Uncertain significance Single submitter
- LHB p.Met61Ile Uncertain significance Single submitter
- LHB p.Pro103Ala Uncertain significance Single submitter
- LHB p.Pro27Leu Uncertain significance Single submitter
- LHB p.Pro71Leu Uncertain significance Single submitter
- LHB p.Pro93Leu Likely benign Single submitter
- LHB p.Thr48Ile Uncertain significance Single submitter
- LHB p.Tyr57His Uncertain significance Single submitter
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LHB p.Gln74Arg
Pathogenic
No assertion criteria
hypogonadotropic hypogonadism 23 with or without anosmia
All LHB variants
Pathogenic 6
- c.183+1G>C No assertion criteria hypogonadotropic hypogonadism 23 with or without anosmia
- c.183+1G>T No assertion criteria hypogonadotropic hypogonadism 23 with or without anosmia
- p.Gln74Arg No assertion criteria hypogonadotropic hypogonadism 23 with or without anosmia ⚠
- p.Gly56Asp No assertion criteria hypogonadotropic hypogonadism 23 with or without anosmia
- p.His30_Ile32del No assertion criteria hypogonadotropic hypogonadism 23 with or without anosmia
- p.Leu10_Leu13del No assertion criteria hypogonadotropic hypogonadism 23 with or without anosmia
Benign 16
- c.15+9A>G Multiple submitters hypogonadotropic hypogonadism 23 with or without anosmia
- c.16-105G>A Multiple submitters
- c.16-26T>C Multiple submitters hypogonadotropic hypogonadism 23 with or without anosmia
- c.183+11T>C Multiple submitters hypogonadotropic hypogonadism 23 with or without anosmia
- c.183+18del Multiple submitters hypogonadotropic hypogonadism 23 with or without anosmia
- c.*85C>T Multiple submitters
- p.Ala67Gly Multiple submitters
- p.Cys77= Multiple submitters
- p.Gly95= Multiple submitters hypogonadotropic hypogonadism 23 with or without anosmia
- p.Ile35Thr Multiple submitters
- p.Leu139Phe Multiple submitters
- p.Pro44= Multiple submitters hypogonadotropic hypogonadism 23 with or without anosmia
- p.Trp28Arg Multiple submitters
- p.Val38= Multiple submitters hypogonadotropic hypogonadism 23 with or without anosmia
- c.15+107G>A Single submitter
- c.15+110A>G Single submitter
Benign/Likely benign 5
- c.16-66G>A Multiple submitters
- p.Ala18Thr Multiple submitters
- p.Arg80= Multiple submitters
- p.Met15Ile Multiple submitters
- p.Thr78Asn Multiple submitters hypogonadotropic hypogonadism 23 with or without anosmia ⚠
Likely benign 26
- c.15+72C>A Multiple submitters
- c.16-104G>C Multiple submitters
- c.16-122C>A Multiple submitters
- c.16-69C>T Multiple submitters
- c.184-39T>C Multiple submitters
- c.184-82G>A Multiple submitters
- c.184-83A>G Multiple submitters
- c.184-84C>T Multiple submitters
- p.Cys113= Multiple submitters
- p.Gly122Ser Multiple submitters hypogonadotropic hypogonadism 23 with or without anosmia
- p.Pro70= Multiple submitters
- c.184-10C>T Single submitter
- c.184-6C>T Single submitter
- p.Ala67= Single submitter
- p.Arg109His Single submitter
- p.Arg22Lys Single submitter
- p.Arg63= Single submitter
- p.Arg88Trp Single submitter
- p.Gly16= Single submitter
- p.Leu13= Single submitter
- p.Pro27= Single submitter
- p.Pro93= Single submitter
- p.Pro93Leu Single submitter ⚠
- p.Thr48= Single submitter
- p.Val82= Single submitter
- p.Val99Met Single submitter
Uncertain significance 34
- p.His30Arg Multiple submitters hypogonadotropic hypogonadism ⚠
- p.Pro59Ala Multiple submitters ⚠
- p.Pro93Arg Multiple submitters ⚠
- p.Val96Met Multiple submitters hypogonadotropic hypogonadism 23 with or without anosmia ⚠
- c.16-5C>T Single submitter
- p.Arg114Cys Single submitter
- p.Arg115His Single submitter ⚠
- p.Arg63Cys Single submitter ⚠
- p.Arg63His Single submitter ⚠
- p.Arg94Cys Single submitter ⚠
- p.Asn33Ser Single submitter ⚠
- p.Asp125Asn Single submitter ⚠
- p.Cys108Tyr Single submitter ⚠
- p.Glu39Lys Single submitter ⚠
- p.Gly111Ala Single submitter ⚠
- p.Gly17Arg Single submitter ⚠
- p.Leu4Phe Single submitter ⚠
- p.Leu7Met Single submitter ⚠
- p.Met61Ile Single submitter ⚠
- p.Met61Thr Single submitter
- p.Met62Ile Single submitter ⚠
- p.Met62Thr Single submitter ⚠
- p.Pro103Ala Single submitter ⚠
- p.Pro24Leu Single submitter ⚠
- p.Pro27Leu Single submitter ⚠
- p.Pro71Ala Single submitter ⚠
- p.Pro71Leu Single submitter ⚠
- p.Ser118Thr Single submitter ⚠
- p.Ser14Cys Single submitter ⚠
- p.Thr129Ile Single submitter ⚠
- p.Thr48Ile Single submitter ⚠
- p.Trp28Ter Single submitter
- p.Tyr57His Single submitter ⚠
- p.Val45Met Single submitter ⚠