TLR1 — 142 ClinVar variants
All ClinVar germline TLR1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 105 flagged for review →
2 Pathogenic · 11 Benign · 2 Benign/Likely benign · 20 Likely benign · 107 Uncertain significance
Full TLR1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 105
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 84
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- TLR1 p.Ala238Glu Uncertain significance Single submitter
- TLR1 p.Ala469Val Uncertain significance Single submitter
- TLR1 p.Ala770Gly Uncertain significance Single submitter
- TLR1 p.Ala774Pro Uncertain significance Single submitter
- TLR1 p.Asn124Asp Uncertain significance Single submitter
- TLR1 p.Asn280Asp Uncertain significance Single submitter
- TLR1 p.Asn474Ser Uncertain significance Single submitter
- TLR1 p.Asn717Tyr Uncertain significance Single submitter
- TLR1 p.Asp180His Uncertain significance Single submitter
- TLR1 p.Asp288Gly Uncertain significance Single submitter
- TLR1 p.Asp523Gly Uncertain significance Single submitter
- TLR1 p.Asp552Glu Uncertain significance Single submitter
- TLR1 p.Cys528Gly Uncertain significance Single submitter
- TLR1 p.Cys528Ser Uncertain significance Single submitter
- TLR1 p.Gln380Arg Uncertain significance Single submitter
- TLR1 p.Gln632His Uncertain significance Single submitter
- TLR1 p.Glu386Lys Uncertain significance Single submitter
- TLR1 p.Glu414Gly Uncertain significance Single submitter
- TLR1 p.Gly176Arg Uncertain significance Single submitter
- TLR1 p.His305Gln Uncertain significance Single submitter
- TLR1 p.His646Arg Uncertain significance Single submitter
- TLR1 p.His669Arg Uncertain significance Single submitter
- TLR1 p.His716Arg Uncertain significance Single submitter
- TLR1 p.His744Arg Uncertain significance Single submitter
- TLR1 p.His78Tyr Uncertain significance Single submitter
- TLR1 p.Ile108Phe Uncertain significance Single submitter
- TLR1 p.Ile131Val Uncertain significance Single submitter
- TLR1 p.Ile19Arg Uncertain significance Single submitter
- TLR1 p.Ile347Asn Uncertain significance Single submitter
- TLR1 p.Ile37Met Uncertain significance Single submitter
- TLR1 p.Ile390Met Uncertain significance Single submitter
- TLR1 p.Ile390Val Uncertain significance Single submitter
- TLR1 p.Ile447Leu Uncertain significance Single submitter
- TLR1 p.Ile497Val Uncertain significance Single submitter
- TLR1 p.Ile52Val Uncertain significance Single submitter
- TLR1 p.Ile739Val Uncertain significance Single submitter
- TLR1 p.Leu13Val Uncertain significance Single submitter
- TLR1 p.Leu443Phe Uncertain significance Single submitter
- TLR1 p.Leu492Phe Uncertain significance Single submitter
- TLR1 p.Leu668Pro Uncertain significance Single submitter
- TLR1 p.Leu730Phe Uncertain significance Single submitter
- TLR1 p.Lys117Arg Uncertain significance Single submitter
- TLR1 p.Lys423Gln Uncertain significance Single submitter
- TLR1 p.Lys46Glu Uncertain significance Single submitter
- TLR1 p.Lys555Asn Uncertain significance Single submitter
- TLR1 p.Lys762Glu Uncertain significance Single submitter
- TLR1 p.Met381Thr Uncertain significance Single submitter
- TLR1 p.Met590Thr Uncertain significance Single submitter
- TLR1 p.Phe477Cys Uncertain significance Single submitter
- TLR1 p.Phe695Ser Uncertain significance Single submitter
- TLR1 p.Pro445Ser Uncertain significance Single submitter
- TLR1 p.Ser109Cys Uncertain significance Single submitter
- TLR1 p.Ser122Ala Uncertain significance Single submitter
- TLR1 p.Ser122Leu Uncertain significance Single submitter
- TLR1 p.Ser139Tyr Uncertain significance Single submitter
- TLR1 p.Ser277Leu Uncertain significance Single submitter
- TLR1 p.Ser309Cys Uncertain significance Single submitter
- TLR1 p.Ser454Arg Uncertain significance Single submitter
- TLR1 p.Ser459Gly Uncertain significance Single submitter
- TLR1 p.Ser491Asn Uncertain significance Single submitter
- TLR1 p.Ser518Leu Uncertain significance Single submitter
- TLR1 p.Ser602Gly Uncertain significance Single submitter
- TLR1 p.Ser698Ala Uncertain significance Single submitter
- TLR1 p.Thr271Ala Uncertain significance Single submitter
- TLR1 p.Thr272Ile Uncertain significance Single submitter
- TLR1 p.Thr394Ala Uncertain significance Single submitter
- TLR1 p.Thr395Arg Uncertain significance Single submitter
- TLR1 p.Thr395Ile Uncertain significance Single submitter
- TLR1 p.Thr617Ile Uncertain significance Single submitter
- TLR1 p.Thr685Ile Uncertain significance Single submitter
- TLR1 p.Trp274Leu Uncertain significance Single submitter
- TLR1 p.Trp650Gly Uncertain significance Single submitter
- TLR1 p.Trp769Ser Uncertain significance Single submitter
- TLR1 p.Tyr56Cys Uncertain significance Single submitter
- TLR1 p.Tyr691Cys Uncertain significance Single submitter
- TLR1 p.Val170Leu Uncertain significance Single submitter
- TLR1 p.Val268Phe Uncertain significance Single submitter
- TLR1 p.Val273Ala Uncertain significance Single submitter
- TLR1 p.Val281Met Uncertain significance Single submitter
- TLR1 p.Val308Gly Uncertain significance Single submitter
- TLR1 p.Val39Ile Uncertain significance Single submitter
- TLR1 p.Val464Ile Uncertain significance Single submitter
- TLR1 p.Val542Ile Uncertain significance Single submitter
- TLR1 p.Ser599Phe Uncertain significance No assertion criteria
Predictors split 21
The independent predictors disagree with each other — read with care.
- TLR1 p.Ile57Met Benign/Likely benign Multiple submitters
- TLR1 p.Arg620Gly Uncertain significance Single submitter
- TLR1 p.Asn578Thr Uncertain significance Single submitter
- TLR1 p.Asp207Ala Uncertain significance Single submitter
- TLR1 p.Asp207Val Uncertain significance Single submitter
- TLR1 p.Asp30Gly Uncertain significance Single submitter
- TLR1 p.Cys132Gly Uncertain significance Single submitter
- TLR1 p.Cys223Arg Uncertain significance Single submitter
- TLR1 p.Gly522Trp Uncertain significance Single submitter
- TLR1 p.Ile65Ser Uncertain significance Single submitter
- TLR1 p.Leu192Val Uncertain significance Single submitter
- TLR1 p.Leu302Ser Uncertain significance Single submitter
- TLR1 p.Lys555Glu Uncertain significance Single submitter
- TLR1 p.Phe202Leu Uncertain significance Single submitter
- TLR1 p.Phe713Val Uncertain significance Single submitter
- TLR1 p.Ser32Pro Uncertain significance Single submitter
- TLR1 p.Ser32Thr Uncertain significance Single submitter
- TLR1 p.Ser348Arg Uncertain significance Single submitter
- TLR1 p.Ser424Ile Uncertain significance Single submitter
- TLR1 p.Tyr643Phe Uncertain significance Single submitter
-
TLR1 p.Arg31Gly
Likely benign
No assertion criteria
TLR1-related disorder
All TLR1 variants
Pathogenic 2
- p.Cys442Arg No assertion criteria rheumatoid arthritis
- p.Ile679Thr No assertion criteria rheumatoid arthritis
Benign 11
- p.Cys528= Multiple submitters
- p.His352Asn Multiple submitters
- p.His646= Multiple submitters
- p.Ser44Pro Multiple submitters
- p.Val494= Multiple submitters
- p.Val542Ala Multiple submitters
- p.Val587Gly Multiple submitters
- p.Arg80Thr No assertion criteria TLR1-related disorder
- p.His305Leu No assertion criteria TLR1-related disorder
- p.His38= No assertion criteria TLR1-related disorder
- p.Ser506= No assertion criteria TLR1-related disorder
Benign/Likely benign 2
- p.Gly676= Multiple submitters
- p.Ile57Met Multiple submitters ⚠
Likely benign 20
- p.Asn634= Single submitter
- p.Gln316= Single submitter
- p.Gly313Ser Single submitter
- p.Gly533Arg Single submitter
- p.Gly549Asp Single submitter
- p.Gly663Asp Single submitter
- p.His720Pro Single submitter
- p.Ile49Val Single submitter
- p.Met590Val Single submitter
- p.Thr272Ser Single submitter
- p.Ala588= No assertion criteria TLR1-related disorder
- p.Arg31Gly No assertion criteria TLR1-related disorder ⚠
- p.Leu443Ile No assertion criteria TLR1-related disorder
- p.Leu71= No assertion criteria TLR1-related disorder
- p.Lys107= No assertion criteria TLR1-related disorder
- p.Phe202= No assertion criteria TLR1-related disorder
- p.Pro181= No assertion criteria TLR1-related disorder
- p.Pro344= No assertion criteria TLR1-related disorder
- p.Thr585= No assertion criteria TLR1-related disorder
- p.Val273= No assertion criteria TLR1-related disorder
Uncertain significance 107
- p.Ala238Glu Single submitter ⚠
- p.Ala469Val Single submitter ⚠
- p.Ala770Gly Single submitter ⚠
- p.Ala774Pro Single submitter ⚠
- p.Arg620Gly Single submitter ⚠
- p.Asn124Asp Single submitter ⚠
- p.Asn280Asp Single submitter ⚠
- p.Asn474Ser Single submitter ⚠
- p.Asn578Thr Single submitter ⚠
- p.Asn717Tyr Single submitter ⚠
- p.Asp180His Single submitter ⚠
- p.Asp207Ala Single submitter ⚠
- p.Asp207Val Single submitter ⚠
- p.Asp288Gly Single submitter ⚠
- p.Asp30Gly Single submitter ⚠
- p.Asp523Gly Single submitter ⚠
- p.Asp552Glu Single submitter ⚠
- p.Asp647Asn Single submitter
- p.Cys132Gly Single submitter ⚠
- p.Cys223Arg Single submitter ⚠
- p.Cys528Gly Single submitter ⚠
- p.Cys528Ser Single submitter ⚠
- p.Gln380Arg Single submitter ⚠
- p.Gln632His Single submitter ⚠
- p.Glu386Lys Single submitter ⚠
- p.Glu414Gly Single submitter ⚠
- p.Gly176Arg Single submitter ⚠
- p.Gly522Trp Single submitter ⚠
- p.His305Gln Single submitter ⚠
- p.His646Arg Single submitter ⚠
- p.His669Arg Single submitter ⚠
- p.His716Arg Single submitter ⚠
- p.His744Arg Single submitter ⚠
- p.His78Tyr Single submitter ⚠
- p.Ile108Phe Single submitter ⚠
- p.Ile131Val Single submitter ⚠
- p.Ile19Arg Single submitter ⚠
- p.Ile347Asn Single submitter ⚠
- p.Ile37Met Single submitter ⚠
- p.Ile390Met Single submitter ⚠
- p.Ile390Val Single submitter ⚠
- p.Ile447Leu Single submitter ⚠
- p.Ile497Val Single submitter ⚠
- p.Ile52Val Single submitter ⚠
- p.Ile65Ser Single submitter ⚠
- p.Ile739Val Single submitter ⚠
- p.Leu13Val Single submitter ⚠
- p.Leu192Val Single submitter ⚠
- p.Leu302Ser Single submitter ⚠
- p.Leu443Phe Single submitter ⚠
- p.Leu492Phe Single submitter ⚠
- p.Leu668Pro Single submitter ⚠
- p.Leu730Phe Single submitter ⚠
- p.Lys117Arg Single submitter ⚠
- p.Lys423Gln Single submitter ⚠
- p.Lys46Glu Single submitter ⚠
- p.Lys555Asn Single submitter ⚠
- p.Lys555Glu Single submitter ⚠
- p.Lys762Glu Single submitter ⚠
- p.Met381Thr Single submitter ⚠
- p.Met590Thr Single submitter ⚠
- p.Phe202Leu Single submitter ⚠
- p.Phe477Cys Single submitter ⚠
- p.Phe695Ser Single submitter ⚠
- p.Phe713Val Single submitter ⚠
- p.Pro444Leu Single submitter
- p.Pro445Ser Single submitter ⚠
- p.Pro559Thr Single submitter
- p.Ser109Cys Single submitter ⚠
- p.Ser122Ala Single submitter ⚠
- p.Ser122Leu Single submitter ⚠
- p.Ser139Tyr Single submitter ⚠
- p.Ser277Leu Single submitter ⚠
- p.Ser309Cys Single submitter ⚠
- p.Ser32Pro Single submitter ⚠
- p.Ser32Thr Single submitter ⚠
- p.Ser348Arg Single submitter ⚠
- p.Ser424Ile Single submitter ⚠
- p.Ser454Arg Single submitter ⚠
- p.Ser459Gly Single submitter ⚠
- p.Ser491Asn Single submitter ⚠
- p.Ser518Leu Single submitter ⚠
- p.Ser602Gly Single submitter ⚠
- p.Ser698Ala Single submitter ⚠
- p.Thr271Ala Single submitter ⚠
- p.Thr272Ile Single submitter ⚠
- p.Thr394Ala Single submitter ⚠
- p.Thr395Arg Single submitter ⚠
- p.Thr395Ile Single submitter ⚠
- p.Thr617Ile Single submitter ⚠
- p.Thr685Ile Single submitter ⚠
- p.Trp274Leu Single submitter ⚠
- p.Trp650Gly Single submitter ⚠
- p.Trp769Ser Single submitter ⚠
- p.Tyr56Cys Single submitter ⚠
- p.Tyr643Cys Single submitter
- p.Tyr643Phe Single submitter ⚠
- p.Tyr691Cys Single submitter ⚠
- p.Val170Leu Single submitter ⚠
- p.Val268Phe Single submitter ⚠
- p.Val273Ala Single submitter ⚠
- p.Val281Met Single submitter ⚠
- p.Val308Gly Single submitter ⚠
- p.Val39Ile Single submitter ⚠
- p.Val464Ile Single submitter ⚠
- p.Val542Ile Single submitter ⚠
- p.Ser599Phe No assertion criteria ⚠