TLR7 — 332 ClinVar variants

All ClinVar germline TLR7 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 171 flagged for review →

5 Pathogenic · 3 Likely pathogenic · 3 Conflicting · 10 Benign · 5 Benign/Likely benign · 125 Likely benign · 181 Uncertain significance

Full TLR7 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 171

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 vs ClinVar 1

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

TLR7 p.Arg28Gly Pathogenic No assertion criteria
systemic lupus erythematosus 17

Predictors agree, ClinVar conflicts 3

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

Predictors lean, ClinVar uncertain 153

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 153

Predictors split 14

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

All TLR7 variants

Pathogenic 5

p.Arg28Gly No assertion criteria systemic lupus erythematosus 17 ⚠
p.Gln710fs No assertion criteria immunodeficiency 74, COVID-19-related, X-linked
p.Phe507Leu No assertion criteria systemic lupus erythematosus 17 ⚠
p.Phe507Ser No assertion criteria systemic lupus erythematosus
p.Val795Phe No assertion criteria immunodeficiency 74, COVID-19-related, X-linked

Likely pathogenic 3

p.Asp332fs Single submitter immunodeficiency 74, COVID-19-related, X-linked
p.Cys814fs Single submitter
p.Trp793fs Single submitter systemic lupus erythematosus 17

Conflicting classifications of pathogenicity 3

p.Ala1032Thr Single submitter ⚠
p.Arg883His Single submitter ⚠
p.Val92Ile Single submitter ⚠

Benign 10

p.Gln11Leu Multiple submitters
p.Leu1029= Multiple submitters
p.Leu345= Multiple submitters
p.Thr801= Multiple submitters
p.Ala288= Single submitter
p.Asp135= Single submitter
p.Ile343= Single submitter
p.Leu840= Single submitter
p.Val222Asp Single submitter
p.Val570= Single submitter

Benign/Likely benign 5

p.Ala448Val Multiple submitters
p.Arg121= Multiple submitters
p.Cys521= Multiple submitters
p.Pro1016= Multiple submitters
p.Val219Ile Multiple submitters

Likely benign 125

p.Ala83= Multiple submitters
p.Arg378= Multiple submitters
p.Asp959= Multiple submitters
p.Ile94= Multiple submitters
p.Leu1001= Multiple submitters
p.Pro272= Multiple submitters
p.Ser149= Multiple submitters
p.Val855= Multiple submitters
c.3+20C>A Single submitter
c.3+8C>T Single submitter
c.4-13C>T Single submitter
c.4-17C>G Single submitter
c.4-20G>A Single submitter
c.-8G>A Single submitter
p.Ala199= Single submitter
p.Ala218= Single submitter
p.Ala271= Single submitter
p.Ala809= Single submitter
p.Arg1004= Single submitter
p.Arg28= Single submitter
p.Arg553= Single submitter
p.Arg920Lys Single submitter
p.Asn1031= Single submitter
p.Asn249= Single submitter
p.Asn259= Single submitter
p.Asn398= Single submitter
p.Asn413= Single submitter
p.Asn604= Single submitter
p.Asn606= Single submitter
p.Asn727= Single submitter
p.Asn733= Single submitter
p.Asn770= Single submitter
p.Asp213= Single submitter
p.Asp639= Single submitter
p.Asp918= Single submitter
p.Cys36= Single submitter
p.Cys98= Single submitter
p.Gln1020= Single submitter
p.Gln303= Single submitter
p.Gln344= Single submitter
p.Gln397= Single submitter
p.Gln514= Single submitter
p.Gln581= Single submitter
p.Gln644= Single submitter
p.Gln696= Single submitter
p.Glu196= Single submitter
p.Glu384= Single submitter
p.Glu453= Single submitter
p.Glu716= Single submitter
p.Glu929= Single submitter
p.Gly495= Single submitter
p.Gly668= Single submitter
p.Gly880= Single submitter
p.His782= Single submitter
p.Ile237= Single submitter
p.Ile48= Single submitter
p.Ile762= Single submitter
p.Ile986= Single submitter
p.Leu116= Single submitter
p.Leu171= Single submitter
p.Leu223= Single submitter
p.Leu24= Single submitter
p.Leu256= Single submitter
p.Leu316= Single submitter
p.Leu339= Single submitter
p.Leu369= Single submitter
p.Leu375= Single submitter
p.Leu399= Single submitter
p.Leu414= Single submitter
p.Leu589= Single submitter
p.Leu624= Single submitter
p.Leu662= Single submitter
p.Leu704= Single submitter
p.Leu808= Single submitter
p.Leu845= Single submitter
p.Leu88= Single submitter
p.Leu884= Single submitter
p.Leu928= Single submitter
p.Leu973= Single submitter
p.Lys520= Single submitter
p.Lys821= Single submitter
p.Lys875= Single submitter
p.Lys960= Single submitter
p.Phe161= Single submitter
p.Phe286= Single submitter
p.Phe408= Single submitter
p.Pro1019= Single submitter
p.Pro143= Single submitter
p.Pro147= Single submitter
p.Pro188= Single submitter
p.Pro224= Single submitter
p.Pro261= Single submitter
p.Ser107= Single submitter
p.Ser194= Single submitter
p.Ser225= Single submitter
p.Ser359= Single submitter
p.Ser368= Single submitter
p.Ser391= Single submitter
p.Ser582= Single submitter
p.Ser618= Single submitter
p.Ser81= Single submitter
p.Ser827= Single submitter
p.Ser844= Single submitter
p.Ser846= Single submitter
p.Thr1048= Single submitter
p.Thr127= Single submitter
p.Thr127Ile Single submitter
p.Thr65= Single submitter
p.Thr68= Single submitter
p.Thr71= Single submitter
p.Thr713= Single submitter
p.Thr739= Single submitter
p.Thr765= Single submitter
p.Thr832= Single submitter
p.Thr905= Single submitter
p.Thr953= Single submitter
p.Thr964= Single submitter
p.Tyr897= Single submitter
p.Tyr961= Single submitter
p.Val101= Single submitter
p.Val283= Single submitter
p.Val508= Single submitter
p.Val825= Single submitter
p.Val867= Single submitter
p.Val939= Single submitter

Uncertain significance 181

p.Arg357Cys Multiple submitters ⚠
p.Asn159Asp Multiple submitters ⚠
p.Asn720Ser Multiple submitters ⚠
p.Asp198Gly Multiple submitters ⚠
p.Asp438Val Multiple submitters ⚠
p.Cys889Tyr Multiple submitters ⚠
p.Gln117Lys Multiple submitters ⚠
p.Gln823Glu Multiple submitters ⚠
p.Glu291Gln Multiple submitters ⚠
p.Glu906Lys Multiple submitters systemic lupus erythematosus ⚠
p.Ile195Met Multiple submitters ⚠
p.Leu1001His Multiple submitters
p.Leu153Ile Multiple submitters ⚠
p.Leu177Phe Multiple submitters ⚠
p.Leu402Ile Multiple submitters ⚠
p.Leu909Ser Multiple submitters ⚠
p.Lys315Gln Multiple submitters immunodeficiency 74, COVID-19-related, X-linked ⚠
p.Lys44Arg Multiple submitters ⚠
p.Lys993Met Multiple submitters ⚠
p.Ser192Leu Multiple submitters ⚠
p.Ser415Asn Multiple submitters ⚠
p.Ser582Leu Multiple submitters ⚠
p.Ser724Arg Multiple submitters ⚠
p.Thr204Ile Multiple submitters ⚠
p.Thr52Ala Multiple submitters ⚠
p.Val222Leu Multiple submitters ⚠
p.Val283Ala Multiple submitters ⚠
p.Val442Ala Multiple submitters ⚠
c.4-3C>A Single submitter
p.Ala1040Val Single submitter ⚠
p.Ala288Thr Single submitter ⚠
p.Ala288Val Single submitter ⚠
p.Ala327Asp Single submitter ⚠
p.Ala333Pro Single submitter ⚠
p.Ala365Thr Single submitter ⚠
p.Ala482Thr Single submitter ⚠
p.Ala83Val Single submitter ⚠
p.Ala970Thr Single submitter ⚠
p.Arg1004Gln Single submitter
p.Arg10Lys Single submitter ⚠
p.Arg28Ile Single submitter ⚠
p.Arg308Gly Single submitter ⚠
p.Arg357His Single submitter ⚠
p.Arg376Gln Single submitter ⚠
p.Arg376Trp Single submitter ⚠
p.Arg422Ser Single submitter ⚠
p.Arg467Gly Single submitter ⚠
p.Arg553Trp Single submitter
p.Arg750Gln Single submitter ⚠
p.Arg784Gln Single submitter ⚠
p.Arg784Trp Single submitter ⚠
p.Asn350Ser Single submitter ⚠
p.Asn395Lys Single submitter ⚠
p.Asn395Ser Single submitter ⚠
p.Asn534Asp Single submitter ⚠
p.Asn648Lys Single submitter ⚠
p.Asn774Ser Single submitter ⚠
p.Asp213Val Single submitter ⚠
p.Asp332Gly Single submitter ⚠
p.Asp41Glu Single submitter ⚠
p.Asp548Ala Single submitter immunodeficiency 74, COVID-19-related, X-linked ⚠
p.Asp671Asn Single submitter ⚠
p.Asp811Gly Single submitter ⚠
p.Asp888His Single submitter ⚠
p.Asp89Gly Single submitter ⚠
p.Asp901Asn Single submitter ⚠
p.Cys445del Single submitter
p.Gln280His Single submitter ⚠
p.Gln280Ter Single submitter
p.Gln323fs Single submitter
p.Gln744His Single submitter ⚠
p.Gln882His Single submitter ⚠
p.Glu170Gln Single submitter ⚠
p.Glu489Ala Single submitter ⚠
p.Glu489Gln Single submitter ⚠
p.Glu617Ala Single submitter ⚠
p.Glu702Gly Single submitter ⚠
p.Glu929Gln Single submitter ⚠
p.Glu929Lys Single submitter
p.Glu965Asp Single submitter ⚠
p.Glu965Lys Single submitter ⚠
p.Gly145Asp Single submitter ⚠
p.Gly526Arg Single submitter ⚠
p.Gly62Ser Single submitter ⚠
p.Gly638Asp Single submitter ⚠
p.Gly818Arg Single submitter ⚠
p.Gly818Val Single submitter ⚠
p.His1038Tyr Single submitter ⚠
p.His298Arg Single submitter ⚠
p.His587Arg Single submitter ⚠
p.His587Gln Single submitter ⚠
p.His630Tyr Single submitter ⚠
p.His782Tyr Single submitter ⚠
p.His800Asn Single submitter ⚠
p.His90Tyr Single submitter ⚠
p.Ile113Phe Single submitter ⚠
p.Ile118Val Single submitter ⚠
p.Ile12Ser Single submitter ⚠
p.Ile142Met Single submitter ⚠
p.Ile174Met Single submitter ⚠
p.Ile195Leu Single submitter ⚠
p.Ile19Val Single submitter ⚠
p.Ile573Met Single submitter ⚠
p.Ile573Val Single submitter ⚠
p.Ile74Met Single submitter ⚠
p.Ile759Val Single submitter
p.Ile847Thr Single submitter ⚠
p.Ile94Met Single submitter ⚠
p.Ile969Thr Single submitter ⚠
p.Leu13Phe Single submitter ⚠
p.Leu251fs Single submitter
p.Leu254Ile Single submitter ⚠
p.Leu390Phe Single submitter ⚠
p.Leu557Phe Single submitter ⚠
p.Leu680Ile Single submitter ⚠
p.Leu718Ter Single submitter
p.Leu779Phe Single submitter ⚠
p.Leu8Pro Single submitter ⚠
p.Leu916Pro Single submitter ⚠
p.Leu988Ser Single submitter ⚠
p.Lys334Glu Single submitter ⚠
p.Lys424Gln Single submitter ⚠
p.Lys493Asn Single submitter ⚠
p.Lys764Met Single submitter ⚠
p.Lys963Asn Single submitter ⚠
p.Lys999Arg Single submitter ⚠
p.Met111Thr Single submitter ⚠
p.Met360Val Single submitter ⚠
p.Met416Thr Single submitter ⚠
p.Met588Leu Single submitter ⚠
p.Met588Val Single submitter ⚠
p.Met957Val Single submitter ⚠
p.Phe200Leu Single submitter ⚠
p.Phe30Leu Single submitter ⚠
p.Phe388Leu Single submitter ⚠
p.Phe873Val Single submitter ⚠
p.Pro1019Leu Single submitter ⚠
p.Pro188Arg Single submitter ⚠
p.Pro267Gln Single submitter ⚠
p.Pro269Leu Single submitter ⚠
p.Pro272Leu Single submitter ⚠
p.Pro306His Single submitter ⚠
p.Pro31Leu Single submitter ⚠
p.Pro435Leu Single submitter ⚠
p.Pro435Ser Single submitter ⚠
p.Pro82Leu Single submitter ⚠
p.Ser1042Arg Single submitter ⚠
p.Ser225Phe Single submitter ⚠
p.Ser371Thr Single submitter ⚠
p.Ser387Thr Single submitter ⚠
p.Ser440Thr Single submitter ⚠
p.Ser658Thr Single submitter ⚠
p.Ser663Arg Single submitter ⚠
p.Ser719Phe Single submitter ⚠
p.Ser737Gly Single submitter ⚠
p.Ser850Phe Single submitter ⚠
p.Thr1048Met Single submitter ⚠
p.Thr221del Single submitter
p.Thr228Ala Single submitter ⚠
p.Thr586Ser Single submitter ⚠
p.Thr65Ala Single submitter ⚠
p.Thr703Ile Single submitter ⚠
p.Thr712Ser Single submitter ⚠
p.Thr7Pro Single submitter ⚠
p.Thr838Ile Single submitter ⚠
p.Thr899Ala Single submitter ⚠
p.Trp1026Ter Single submitter
p.Trp796Leu Single submitter ⚠
p.Tyr133His Single submitter ⚠
p.Tyr190Phe Single submitter ⚠
p.Tyr264His Single submitter systemic lupus erythematosus 17 ⚠
p.Tyr380fs Single submitter
p.Tyr751Asn Single submitter ⚠
p.Tyr751His Single submitter ⚠
p.Val355Ile Single submitter ⚠
p.Val430Leu Single submitter ⚠
p.Val442Asp Single submitter ⚠
p.Val49Met Single submitter
p.Val896Met Single submitter ⚠
p.Val913Met Single submitter ⚠
p.Ser613Cys No assertion criteria TLR7-related disorder ⚠