TREH — 100 ClinVar variants
All ClinVar germline TREH variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 71 flagged for review →
1 Conflicting · 5 Benign · 20 Likely benign · 74 Uncertain significance
Full TREH gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 71
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 54
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
TREH p.Gln87Lys
Uncertain significance
Multiple submitters
diarrhea-vomiting due to trehalase deficiency
- TREH p.Ala307Val Uncertain significance Single submitter
- TREH p.Ala356Thr Uncertain significance Single submitter
- TREH p.Ala469Asp Uncertain significance Single submitter
- TREH p.Arg152Trp Uncertain significance Single submitter
- TREH p.Arg215Cys Uncertain significance Single submitter
- TREH p.Arg215His Uncertain significance Single submitter
- TREH p.Arg277His Uncertain significance Single submitter
- TREH p.Arg340Gln Uncertain significance Single submitter
- TREH p.Arg380Trp Uncertain significance Single submitter
- TREH p.Arg485His Uncertain significance Single submitter
- TREH p.Arg486Gln Uncertain significance Single submitter
- TREH p.Arg549His Uncertain significance Single submitter
- TREH p.Arg553Gln Uncertain significance Single submitter
- TREH p.Asn276His Uncertain significance Single submitter
- TREH p.Asn362Ser Uncertain significance Single submitter
- TREH p.Asp176Asn Uncertain significance Single submitter
- TREH p.Asp348Gly Uncertain significance Single submitter
- TREH p.Asp370Gly Uncertain significance Single submitter
- TREH p.Asp76Gly Uncertain significance Single submitter
- TREH p.Gln130Lys Uncertain significance Single submitter
- TREH p.Gln395His Uncertain significance Single submitter
- TREH p.Gln395Pro Uncertain significance Single submitter
- TREH p.Gln41Lys Uncertain significance Single submitter
- TREH p.Gln49His Uncertain significance Single submitter
- TREH p.Glu84Lys Uncertain significance Single submitter
- TREH p.Gly167Ser Uncertain significance Single submitter
- TREH p.Gly213Ser Uncertain significance Single submitter
- TREH p.Gly397Arg Uncertain significance Single submitter
- TREH p.Gly98Glu Uncertain significance Single submitter
- TREH p.His566Tyr Uncertain significance Single submitter
- TREH p.Ile119Ser Uncertain significance Single submitter
- TREH p.Leu134Pro Uncertain significance Single submitter
- TREH p.Leu155Ile Uncertain significance Single submitter
- TREH p.Leu274Phe Uncertain significance Single submitter
- TREH p.Leu436Val Uncertain significance Single submitter
- TREH p.Leu439Arg Uncertain significance Single submitter
- TREH p.Leu547Arg Uncertain significance Single submitter
- TREH p.Leu59Arg Uncertain significance Single submitter
- TREH p.Lys140Gln Uncertain significance Single submitter
- TREH p.Phe54Leu Uncertain significance Single submitter
- TREH p.Pro103Ser Uncertain significance Single submitter
- TREH p.Pro285His Uncertain significance Single submitter
- TREH p.Pro452Leu Uncertain significance Single submitter
- TREH p.Pro565Thr Uncertain significance Single submitter
- TREH p.Ser318Ala Uncertain significance Single submitter
- TREH p.Ser337Gly Uncertain significance Single submitter
- TREH p.Thr241Ala Uncertain significance Single submitter
- TREH p.Thr71Ile Uncertain significance Single submitter
- TREH p.Trp258Arg Uncertain significance Single submitter
- TREH p.Trp392Leu Uncertain significance Single submitter
- TREH p.Val280Ala Uncertain significance Single submitter
- TREH p.Val431Met Uncertain significance Single submitter
- TREH p.Val542Glu Uncertain significance Single submitter
Predictors split 17
The independent predictors disagree with each other — read with care.
- TREH p.Arg125Cys Uncertain significance Single submitter
- TREH p.Arg277Cys Uncertain significance Single submitter
- TREH p.Arg305Trp Uncertain significance Single submitter
- TREH p.Arg411Trp Uncertain significance Single submitter
- TREH p.Arg485Cys Uncertain significance Single submitter
- TREH p.Asn417Ser Uncertain significance Single submitter
- TREH p.Gly270Arg Uncertain significance Single submitter
- TREH p.Gly459Ser Uncertain significance Single submitter
- TREH p.Gly98Val Uncertain significance Single submitter
- TREH p.Lys343Ile Uncertain significance Single submitter
- TREH p.Phe363Leu Uncertain significance Single submitter
- TREH p.Pro225Leu Uncertain significance Single submitter
- TREH p.Ser416Pro Uncertain significance Single submitter
- TREH p.Trp104Cys Uncertain significance Single submitter
- TREH p.Val264Ala Uncertain significance Single submitter
- TREH p.Val42Ala Uncertain significance Single submitter
- TREH p.Val542Met Uncertain significance Single submitter
All TREH variants
Conflicting classifications of pathogenicity 1
- c.90-9_106del No assertion criteria diarrhea-vomiting due to trehalase deficiency
Benign 5
- p.Leu578= Multiple submitters
- p.Gly541= No assertion criteria TREH-related disorder
- p.Ile339Val No assertion criteria TREH-related disorder
- p.Lys52= No assertion criteria TREH-related disorder
- p.Thr389Ala No assertion criteria TREH-related disorder
Likely benign 20
- p.Lys140Arg Multiple submitters
- p.Tyr449His Multiple submitters
- p.Ala242Thr Single submitter
- p.Ala88Thr Single submitter
- p.Arg152Gln Single submitter
- p.Arg411Gln Single submitter
- p.Ile328Thr Single submitter
- p.Leu474= Single submitter
- p.Thr192= Single submitter
- c.423+6A>T No assertion criteria TREH-related disorder
- c.424-9C>T No assertion criteria TREH-related disorder
- p.Ala385= No assertion criteria TREH-related disorder
- p.Arg215= No assertion criteria TREH-related disorder
- p.Arg83= No assertion criteria TREH-related disorder
- p.Asp256= No assertion criteria TREH-related disorder
- p.Cys354= No assertion criteria TREH-related disorder
- p.Glu37= No assertion criteria TREH-related disorder
- p.Glu64= No assertion criteria TREH-related disorder
- p.Leu367= No assertion criteria TREH-related disorder
- p.Thr241= No assertion criteria TREH-related disorder
Uncertain significance 74
- p.Gln87Lys Multiple submitters diarrhea-vomiting due to trehalase deficiency ⚠
- p.Ala307Val Single submitter ⚠
- p.Ala356Thr Single submitter ⚠
- p.Ala373Asp Single submitter
- p.Ala469Asp Single submitter ⚠
- p.Arg125Cys Single submitter ⚠
- p.Arg152Trp Single submitter ⚠
- p.Arg215Cys Single submitter ⚠
- p.Arg215His Single submitter ⚠
- p.Arg277Cys Single submitter ⚠
- p.Arg277His Single submitter ⚠
- p.Arg305Trp Single submitter ⚠
- p.Arg340Gln Single submitter ⚠
- p.Arg380Trp Single submitter ⚠
- p.Arg411Trp Single submitter ⚠
- p.Arg485Cys Single submitter ⚠
- p.Arg485His Single submitter ⚠
- p.Arg486Gln Single submitter ⚠
- p.Arg549His Single submitter ⚠
- p.Arg553Gln Single submitter ⚠
- p.Asn276His Single submitter ⚠
- p.Asn362Ser Single submitter ⚠
- p.Asn417Ser Single submitter ⚠
- p.Asp176Asn Single submitter ⚠
- p.Asp348Gly Single submitter ⚠
- p.Asp370Gly Single submitter ⚠
- p.Asp76Gly Single submitter ⚠
- p.Gln130Lys Single submitter ⚠
- p.Gln395His Single submitter ⚠
- p.Gln395Pro Single submitter ⚠
- p.Gln41Lys Single submitter ⚠
- p.Gln49His Single submitter ⚠
- p.Glu84Lys Single submitter ⚠
- p.Gly167Ser Single submitter ⚠
- p.Gly213Ser Single submitter ⚠
- p.Gly270Arg Single submitter ⚠
- p.Gly397Arg Single submitter ⚠
- p.Gly459Ser Single submitter ⚠
- p.Gly98Glu Single submitter ⚠
- p.Gly98Val Single submitter ⚠
- p.His566Tyr Single submitter ⚠
- p.Ile119Ser Single submitter ⚠
- p.Leu134Pro Single submitter ⚠
- p.Leu155Ile Single submitter ⚠
- p.Leu274Phe Single submitter ⚠
- p.Leu436Val Single submitter ⚠
- p.Leu439Arg Single submitter ⚠
- p.Leu455Pro Single submitter
- p.Leu547Arg Single submitter ⚠
- p.Leu59Arg Single submitter ⚠
- p.Lys140Gln Single submitter ⚠
- p.Lys343Ile Single submitter ⚠
- p.Phe363Leu Single submitter ⚠
- p.Phe54Leu Single submitter ⚠
- p.Pro103Ser Single submitter ⚠
- p.Pro225Leu Single submitter ⚠
- p.Pro285His Single submitter ⚠
- p.Pro452Leu Single submitter ⚠
- p.Pro565Thr Single submitter ⚠
- p.Ser318Ala Single submitter ⚠
- p.Ser337Gly Single submitter ⚠
- p.Ser416Pro Single submitter ⚠
- p.Thr241Ala Single submitter ⚠
- p.Thr71Ile Single submitter ⚠
- p.Trp104Cys Single submitter ⚠
- p.Trp258Arg Single submitter ⚠
- p.Trp392Leu Single submitter ⚠
- p.Tyr376His Single submitter
- p.Val264Ala Single submitter ⚠
- p.Val280Ala Single submitter ⚠
- p.Val42Ala Single submitter ⚠
- p.Val431Met Single submitter ⚠
- p.Val542Glu Single submitter ⚠
- p.Val542Met Single submitter ⚠