THOP1 — 129 ClinVar variants
All ClinVar germline THOP1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 117 flagged for review →
6 Likely benign · 123 Uncertain significance
Full THOP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 117
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 78
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- THOP1 p.Ala139Val Uncertain significance Single submitter
- THOP1 p.Ala14Thr Uncertain significance Single submitter
- THOP1 p.Ala292Val Uncertain significance Single submitter
- THOP1 p.Ala299Val Uncertain significance Single submitter
- THOP1 p.Ala319Val Uncertain significance Single submitter
- THOP1 p.Ala387Thr Uncertain significance Single submitter
- THOP1 p.Ala530Thr Uncertain significance Single submitter
- THOP1 p.Ala570Thr Uncertain significance Single submitter
- THOP1 p.Ala573Thr Uncertain significance Single submitter
- THOP1 p.Ala577Val Uncertain significance Single submitter
- THOP1 p.Ala656Thr Uncertain significance Single submitter
- THOP1 p.Arg115Thr Uncertain significance Single submitter
- THOP1 p.Arg135Lys Uncertain significance Single submitter
- THOP1 p.Arg166His Uncertain significance Single submitter
- THOP1 p.Arg247Gln Uncertain significance Single submitter
- THOP1 p.Arg25Gln Uncertain significance Single submitter
- THOP1 p.Arg331Cys Uncertain significance Single submitter
- THOP1 p.Arg331His Uncertain significance Single submitter
- THOP1 p.Arg395Gln Uncertain significance Single submitter
- THOP1 p.Arg436Gln Uncertain significance Single submitter
- THOP1 p.Arg533Trp Uncertain significance Single submitter
- THOP1 p.Arg543Gln Uncertain significance Single submitter
- THOP1 p.Arg543Trp Uncertain significance Single submitter
- THOP1 p.Arg664Cys Uncertain significance Single submitter
- THOP1 p.Arg664His Uncertain significance Single submitter
- THOP1 p.Asp132Gly Uncertain significance Single submitter
- THOP1 p.Asp458Asn Uncertain significance Single submitter
- THOP1 p.Asp606Asn Uncertain significance Single submitter
- THOP1 p.Cys321Arg Uncertain significance Single submitter
- THOP1 p.Gln194Arg Uncertain significance Single submitter
- THOP1 p.Gln43His Uncertain significance Single submitter
- THOP1 p.Gln442Arg Uncertain significance Single submitter
- THOP1 p.Gln485Leu Uncertain significance Single submitter
- THOP1 p.Gln562Arg Uncertain significance Single submitter
- THOP1 p.Gln668Arg Uncertain significance Single submitter
- THOP1 p.Glu211Gln Uncertain significance Single submitter
- THOP1 p.Glu315Lys Uncertain significance Single submitter
- THOP1 p.Glu34Gln Uncertain significance Single submitter
- THOP1 p.Glu683Lys Uncertain significance Single submitter
- THOP1 p.Glu685Lys Uncertain significance Single submitter
- THOP1 p.Gly368Arg Uncertain significance Single submitter
- THOP1 p.Gly371Asp Uncertain significance Single submitter
- THOP1 p.Gly386Asp Uncertain significance Single submitter
- THOP1 p.Gly409Arg Uncertain significance Single submitter
- THOP1 p.Gly409Ser Uncertain significance Single submitter
- THOP1 p.Gly433Ser Uncertain significance Single submitter
- THOP1 p.Gly681Val Uncertain significance Single submitter
- THOP1 p.His232Tyr Uncertain significance Single submitter
- THOP1 p.Ile540Thr Uncertain significance Single submitter
- THOP1 p.Leu204Val Uncertain significance Single submitter
- THOP1 p.Leu613Pro Uncertain significance Single submitter
- THOP1 p.Lys170Arg Uncertain significance Single submitter
- THOP1 p.Lys249Glu Uncertain significance Single submitter
- THOP1 p.Lys559Arg Uncertain significance Single submitter
- THOP1 p.Met341Val Uncertain significance Single submitter
- THOP1 p.Phe56Leu Uncertain significance Single submitter
- THOP1 p.Pro684Leu Uncertain significance Single submitter
- THOP1 p.Pro686Leu Uncertain significance Single submitter
- THOP1 p.Ser388Arg Uncertain significance Single submitter
- THOP1 p.Ser63Asn Uncertain significance Single submitter
- THOP1 p.Ser655Thr Uncertain significance Single submitter
- THOP1 p.Ser91Phe Uncertain significance Single submitter
- THOP1 p.Thr192Met Uncertain significance Single submitter
- THOP1 p.Thr261Met Uncertain significance Single submitter
- THOP1 p.Thr293Ala Uncertain significance Single submitter
- THOP1 p.Thr566Ala Uncertain significance Single submitter
- THOP1 p.Thr566Pro Uncertain significance Single submitter
- THOP1 p.Thr74Ala Uncertain significance Single submitter
- THOP1 p.Thr74Ile Uncertain significance Single submitter
- THOP1 p.Trp513Arg Uncertain significance Single submitter
- THOP1 p.Trp513Gly Uncertain significance Single submitter
- THOP1 p.Tyr471Phe Uncertain significance Single submitter
- THOP1 p.Val123Ala Uncertain significance Single submitter
- THOP1 p.Val291Met Uncertain significance Single submitter
- THOP1 p.Val312Met Uncertain significance Single submitter
- THOP1 p.Val586Phe Uncertain significance Single submitter
- THOP1 p.Val59Met Uncertain significance Single submitter
- THOP1 p.Val617Ala Uncertain significance Single submitter
Predictors split 39
The independent predictors disagree with each other — read with care.
- THOP1 p.Ala446Val Uncertain significance Single submitter
- THOP1 p.Ala503Val Uncertain significance Single submitter
- THOP1 p.Arg150Trp Uncertain significance Single submitter
- THOP1 p.Arg318Cys Uncertain significance Single submitter
- THOP1 p.Arg318His Uncertain significance Single submitter
- THOP1 p.Arg323Cys Uncertain significance Single submitter
- THOP1 p.Arg348Cys Uncertain significance Single submitter
- THOP1 p.Arg441His Uncertain significance Single submitter
- THOP1 p.Arg498Trp Uncertain significance Single submitter
- THOP1 p.Arg523Trp Uncertain significance Single submitter
- THOP1 p.Arg526His Uncertain significance Single submitter
- THOP1 p.Arg553His Uncertain significance Single submitter
- THOP1 p.Arg578Gln Uncertain significance Single submitter
- THOP1 p.Arg626Cys Uncertain significance Single submitter
- THOP1 p.Asp109Asn Uncertain significance Single submitter
- THOP1 p.Asp70Asn Uncertain significance Single submitter
- THOP1 p.Gln481Arg Uncertain significance Single submitter
- THOP1 p.Glu322Lys Uncertain significance Single submitter
- THOP1 p.Glu384Lys Uncertain significance Single submitter
- THOP1 p.Glu392Lys Uncertain significance Single submitter
- THOP1 p.Glu42Lys Uncertain significance Single submitter
- THOP1 p.Gly149Ser Uncertain significance Single submitter
- THOP1 p.Ile167Phe Uncertain significance Single submitter
- THOP1 p.Met112Ile Uncertain significance Single submitter
- THOP1 p.Met341Thr Uncertain significance Single submitter
- THOP1 p.Phe598Leu Uncertain significance Single submitter
- THOP1 p.Pro304Thr Uncertain significance Single submitter
- THOP1 p.Pro587Leu Uncertain significance Single submitter
- THOP1 p.Pro595Ser Uncertain significance Single submitter
- THOP1 p.Ser133Pro Uncertain significance Single submitter
- THOP1 p.Ser288Asn Uncertain significance Single submitter
- THOP1 p.Ser404Leu Uncertain significance Single submitter
- THOP1 p.Ser674Arg Uncertain significance Single submitter
- THOP1 p.Ser674Asn Uncertain significance Single submitter
- THOP1 p.Thr274Met Uncertain significance Single submitter
- THOP1 p.Thr566Arg Uncertain significance Single submitter
- THOP1 p.Thr625Met Uncertain significance Single submitter
- THOP1 p.Val344Leu Uncertain significance Single submitter
- THOP1 p.Val47Met Uncertain significance Single submitter
All THOP1 variants
Likely benign 6
- p.Ala380Thr Single submitter
- p.Ala503= Single submitter
- p.Arg333His Single submitter
- p.Arg533Gln Single submitter
- p.His232= Single submitter
- p.Cys350Arg No assertion criteria THOP1-related disorder
Uncertain significance 123
- p.Ala139Val Single submitter ⚠
- p.Ala14Thr Single submitter ⚠
- p.Ala292Val Single submitter ⚠
- p.Ala299Val Single submitter ⚠
- p.Ala319Val Single submitter ⚠
- p.Ala387Thr Single submitter ⚠
- p.Ala446Val Single submitter ⚠
- p.Ala503Val Single submitter ⚠
- p.Ala530Thr Single submitter ⚠
- p.Ala570Thr Single submitter ⚠
- p.Ala573Thr Single submitter ⚠
- p.Ala577Val Single submitter ⚠
- p.Ala656Thr Single submitter ⚠
- p.Arg115Thr Single submitter ⚠
- p.Arg135Lys Single submitter ⚠
- p.Arg150Trp Single submitter ⚠
- p.Arg166His Single submitter ⚠
- p.Arg247Gln Single submitter ⚠
- p.Arg25Gln Single submitter ⚠
- p.Arg318Cys Single submitter ⚠
- p.Arg318His Single submitter ⚠
- p.Arg323Cys Single submitter ⚠
- p.Arg331Cys Single submitter ⚠
- p.Arg331His Single submitter ⚠
- p.Arg348Cys Single submitter ⚠
- p.Arg395Gln Single submitter ⚠
- p.Arg436Gln Single submitter ⚠
- p.Arg441His Single submitter ⚠
- p.Arg498Gln Single submitter
- p.Arg498Trp Single submitter ⚠
- p.Arg523Trp Single submitter ⚠
- p.Arg526His Single submitter ⚠
- p.Arg533Trp Single submitter ⚠
- p.Arg543Gln Single submitter ⚠
- p.Arg543Trp Single submitter ⚠
- p.Arg553His Single submitter ⚠
- p.Arg578Gln Single submitter ⚠
- p.Arg626Cys Single submitter ⚠
- p.Arg664Cys Single submitter ⚠
- p.Arg664His Single submitter ⚠
- p.Asp109Asn Single submitter ⚠
- p.Asp132Gly Single submitter ⚠
- p.Asp27Ala Single submitter
- p.Asp458Asn Single submitter ⚠
- p.Asp606Asn Single submitter ⚠
- p.Asp70Asn Single submitter ⚠
- p.Cys321Arg Single submitter ⚠
- p.Gln194Arg Single submitter ⚠
- p.Gln43His Single submitter ⚠
- p.Gln442Arg Single submitter ⚠
- p.Gln481Arg Single submitter ⚠
- p.Gln485Leu Single submitter ⚠
- p.Gln562Arg Single submitter ⚠
- p.Gln668Arg Single submitter ⚠
- p.Glu211Gln Single submitter ⚠
- p.Glu281Ala Single submitter
- p.Glu315Lys Single submitter ⚠
- p.Glu322Lys Single submitter ⚠
- p.Glu34Gln Single submitter ⚠
- p.Glu384Lys Single submitter ⚠
- p.Glu392Lys Single submitter ⚠
- p.Glu42Lys Single submitter ⚠
- p.Glu683Lys Single submitter ⚠
- p.Glu685Lys Single submitter ⚠
- p.Gly149Ser Single submitter ⚠
- p.Gly368Arg Single submitter ⚠
- p.Gly371Asp Single submitter ⚠
- p.Gly386Asp Single submitter ⚠
- p.Gly409Arg Single submitter ⚠
- p.Gly409Ser Single submitter ⚠
- p.Gly433Ser Single submitter ⚠
- p.Gly681Val Single submitter ⚠
- p.His232Tyr Single submitter ⚠
- p.Ile167Phe Single submitter ⚠
- p.Ile540Thr Single submitter ⚠
- p.Leu204Val Single submitter ⚠
- p.Leu613Pro Single submitter ⚠
- p.Lys170Arg Single submitter ⚠
- p.Lys249Glu Single submitter ⚠
- p.Lys559Arg Single submitter ⚠
- p.Met112Ile Single submitter ⚠
- p.Met341Thr Single submitter ⚠
- p.Met341Val Single submitter ⚠
- p.Phe56Leu Single submitter ⚠
- p.Phe598Leu Single submitter ⚠
- p.Pro226Leu Single submitter
- p.Pro304Thr Single submitter ⚠
- p.Pro587Leu Single submitter ⚠
- p.Pro595Ser Single submitter ⚠
- p.Pro684Leu Single submitter ⚠
- p.Pro686Leu Single submitter ⚠
- p.Ser133Pro Single submitter ⚠
- p.Ser288Asn Single submitter ⚠
- p.Ser388Arg Single submitter ⚠
- p.Ser404Leu Single submitter ⚠
- p.Ser63Asn Single submitter ⚠
- p.Ser655Thr Single submitter ⚠
- p.Ser674Arg Single submitter ⚠
- p.Ser674Asn Single submitter ⚠
- p.Ser91Phe Single submitter ⚠
- p.Thr192Met Single submitter ⚠
- p.Thr261Met Single submitter ⚠
- p.Thr274Met Single submitter ⚠
- p.Thr293Ala Single submitter ⚠
- p.Thr366Met Single submitter
- p.Thr566Ala Single submitter ⚠
- p.Thr566Arg Single submitter ⚠
- p.Thr566Pro Single submitter ⚠
- p.Thr625Met Single submitter ⚠
- p.Thr74Ala Single submitter ⚠
- p.Thr74Ile Single submitter ⚠
- p.Trp513Arg Single submitter ⚠
- p.Trp513Gly Single submitter ⚠
- p.Tyr471Phe Single submitter ⚠
- p.Tyr75Cys Single submitter
- p.Val123Ala Single submitter ⚠
- p.Val291Met Single submitter ⚠
- p.Val312Met Single submitter ⚠
- p.Val344Leu Single submitter ⚠
- p.Val47Met Single submitter ⚠
- p.Val586Phe Single submitter ⚠
- p.Val59Met Single submitter ⚠
- p.Val617Ala Single submitter ⚠