TLR5 — 126 ClinVar variants

All ClinVar germline TLR5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 97 flagged for review →

1 Likely pathogenic · 2 Conflicting · 7 Benign · 5 Benign/Likely benign · 12 Likely benign · 99 Uncertain significance

Full TLR5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 97

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 agree, ClinVar conflicts 1

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

TLR5 p.Ala548Val Conflicting Single submitter

Predictors lean, ClinVar uncertain 80

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 16

The independent predictors disagree with each other — read with care.

All TLR5 variants

Likely pathogenic 1

p.Ser202Ter Single submitter systemic lupus erythematosus, susceptibility to, 1

Conflicting classifications of pathogenicity 2

p.Ala548Val Single submitter ⚠
p.Asp554Gly Single submitter ⚠

Benign 7

p.Asn143Thr Multiple submitters ⚠
p.Leu444= Multiple submitters
p.Ser289= Multiple submitters
p.Thr82Ile Multiple submitters
p.Arg752Gly Single submitter ⚠
p.Asn456= Single submitter
p.Phe616Leu No assertion criteria TLR5-related disorder

Benign/Likely benign 5

p.Asp846Gly Multiple submitters
p.Ile644Phe Multiple submitters
p.Leu487Ile Multiple submitters
p.Lys831= Multiple submitters
p.Pro112Ala Multiple submitters

Likely benign 12

p.Arg740His Single submitter
p.Asp746Ala Single submitter
p.Gln813Arg Single submitter
p.Glu191Lys Single submitter
p.Leu152= Single submitter
p.Leu769Phe Single submitter ⚠
p.Ser79Asn Single submitter
p.Ser79Thr Single submitter
p.Thr197Met Single submitter
p.His111= No assertion criteria TLR5-related disorder
p.Ser720Arg No assertion criteria TLR5-related disorder ⚠
p.Val619= No assertion criteria TLR5-related disorder

Uncertain significance 99

p.Ala204Thr Single submitter ⚠
p.Ala205Asp Single submitter ⚠
p.Ala562Val Single submitter ⚠
p.Ala695Val Single submitter ⚠
p.Ala775Gly Single submitter ⚠
p.Arg149Cys Single submitter ⚠
p.Arg158Cys Single submitter ⚠
p.Arg306Gln Single submitter ⚠
p.Arg446Trp Single submitter ⚠
p.Arg664Gln Single submitter ⚠
p.Asn155Thr Single submitter ⚠
p.Asn180Lys Single submitter ⚠
p.Asn325Asp Single submitter ⚠
p.Asn346Asp Single submitter ⚠
p.Asn512Lys Single submitter ⚠
p.Asn549Asp Single submitter ⚠
p.Asn558Tyr Single submitter ⚠
p.Asn56Thr Single submitter ⚠
p.Asn595His Single submitter ⚠
p.Asp407Val Single submitter ⚠
p.Asp466Glu Single submitter ⚠
p.Asp694Gly Single submitter ⚠
p.Asp746Val Single submitter ⚠
p.Cys219Gly Single submitter ⚠
p.Cys779Tyr Single submitter ⚠
p.Gln339His Single submitter ⚠
p.Gln477Glu Single submitter ⚠
p.Gln505Arg Single submitter ⚠
p.Gln708His Single submitter ⚠
p.Glu551Gln Single submitter ⚠
p.Gly10Glu Single submitter ⚠
p.Gly130Cys Single submitter ⚠
p.Gly195Glu Single submitter ⚠
p.Gly237Ser Single submitter ⚠
p.Gly334Arg Single submitter
p.Gly465Arg Single submitter ⚠
p.Gly530Val Single submitter ⚠
p.Gly618Arg Single submitter ⚠
p.His272Arg Single submitter ⚠
p.His4Tyr Single submitter ⚠
p.His578Tyr Single submitter ⚠
p.Ile242Val Single submitter ⚠
p.Ile365Thr Single submitter ⚠
p.Ile365Val Single submitter ⚠
p.Ile372Phe Single submitter
p.Ile402Phe Single submitter ⚠
p.Ile608Val Single submitter ⚠
p.Leu162Phe Single submitter ⚠
p.Leu228Pro Single submitter ⚠
p.Leu293Val Single submitter ⚠
p.Leu311Pro Single submitter ⚠
p.Leu319Phe Single submitter ⚠
p.Leu347Phe Single submitter ⚠
p.Leu438Pro Single submitter
p.Leu453Val Single submitter ⚠
p.Leu493His Single submitter ⚠
p.Leu51Val Single submitter ⚠
p.Leu528Val Single submitter ⚠
p.Leu642Ile Single submitter ⚠
p.Leu654Phe Single submitter ⚠
p.Leu780Phe Single submitter ⚠
p.Leu787Pro Single submitter ⚠
p.Leu84Ser Single submitter
p.Leu851Ser Single submitter ⚠
p.Lys106Glu Single submitter ⚠
p.Lys154Gln Single submitter ⚠
p.Lys802Arg Single submitter ⚠
p.Lys838Glu Single submitter ⚠
p.Lys844Arg Single submitter ⚠
p.Met14Ile Single submitter ⚠
p.Met265Thr Single submitter
p.Met655Ile Single submitter ⚠
p.Phe622Ser Single submitter ⚠
p.Phe734Ile Single submitter ⚠
p.Pro473Arg Single submitter ⚠
p.Ser105Thr Single submitter ⚠
p.Ser213Leu Single submitter ⚠
p.Ser23Cys Single submitter ⚠
p.Ser247Asn Single submitter ⚠
p.Ser289Leu Single submitter ⚠
p.Ser461Phe Single submitter ⚠
p.Ser470Leu Single submitter ⚠
p.Ser588_Thr589insTer Single submitter
p.Ser588Gly Single submitter ⚠
p.Ser637Phe Single submitter ⚠
p.Ser700Gly Single submitter ⚠
p.Ser773Gly Single submitter ⚠
p.Thr239Ile Single submitter
p.Thr649Pro Single submitter ⚠
p.Tyr108His Single submitter ⚠
p.Tyr357Asn Single submitter ⚠
p.Val290Met Single submitter ⚠
p.Val340Ala Single submitter ⚠
p.Val340Gly Single submitter ⚠
p.Val506Phe Single submitter ⚠
p.Val567Glu Single submitter ⚠
p.Val707Met Single submitter
p.Val735Ala Single submitter ⚠
p.Val755Ile Single submitter ⚠