DET1 — 96 ClinVar variants
All ClinVar germline DET1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 84 flagged for review →
5 Likely benign · 91 Uncertain significance
Full DET1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 84
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 50
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- DET1 p.Ala529Thr Uncertain significance Single submitter
- DET1 p.Ala93Gly Uncertain significance Single submitter
- DET1 p.Arg119Gln Uncertain significance Single submitter
- DET1 p.Arg123Cys Uncertain significance Single submitter
- DET1 p.Arg175Gln Uncertain significance Single submitter
- DET1 p.Arg202His Uncertain significance Single submitter
- DET1 p.Arg207Cys Uncertain significance Single submitter
- DET1 p.Arg24Cys Uncertain significance Single submitter
- DET1 p.Arg24His Uncertain significance Single submitter
- DET1 p.Arg277Gln Uncertain significance Single submitter
- DET1 p.Arg306Gln Uncertain significance Single submitter
- DET1 p.Arg318Gly Uncertain significance Single submitter
- DET1 p.Arg318His Uncertain significance Single submitter
- DET1 p.Arg424Trp Uncertain significance Single submitter
- DET1 p.Asn107Ser Uncertain significance Single submitter
- DET1 p.Asn136Ser Uncertain significance Single submitter
- DET1 p.Asn416Ile Uncertain significance Single submitter
- DET1 p.Asp384His Uncertain significance Single submitter
- DET1 p.Asp469Val Uncertain significance Single submitter
- DET1 p.Asp95Glu Uncertain significance Single submitter
- DET1 p.Cys90Ser Uncertain significance Single submitter
- DET1 p.Gln111Leu Uncertain significance Single submitter
- DET1 p.Gln280His Uncertain significance Single submitter
- DET1 p.Glu388Asp Uncertain significance Single submitter
- DET1 p.Gly457Ser Uncertain significance Single submitter
- DET1 p.Gly89Ser Uncertain significance Single submitter
- DET1 p.His437Gln Uncertain significance Single submitter
- DET1 p.Leu120Pro Uncertain significance Single submitter
- DET1 p.Leu216Ser Uncertain significance Single submitter
- DET1 p.Leu216Val Uncertain significance Single submitter
- DET1 p.Leu232Phe Uncertain significance Single submitter
- DET1 p.Leu387Ser Uncertain significance Single submitter
- DET1 p.Phe319Cys Uncertain significance Single submitter
- DET1 p.Phe379Val Uncertain significance Single submitter
- DET1 p.Pro10Ala Uncertain significance Single submitter
- DET1 p.Pro184Gln Uncertain significance Single submitter
- DET1 p.Ser145Asn Uncertain significance Single submitter
- DET1 p.Ser279Ile Uncertain significance Single submitter
- DET1 p.Ser279Thr Uncertain significance Single submitter
- DET1 p.Thr208Met Uncertain significance Single submitter
- DET1 p.Thr249Ser Uncertain significance Single submitter
- DET1 p.Thr550Met Uncertain significance Single submitter
- DET1 p.Thr7Ala Uncertain significance Single submitter
- DET1 p.Tyr261Cys Uncertain significance Single submitter
- DET1 p.Tyr322Phe Uncertain significance Single submitter
- DET1 p.Val114Met Uncertain significance Single submitter
- DET1 p.Val271Leu Uncertain significance Single submitter
- DET1 p.Val367Ala Uncertain significance Single submitter
- DET1 p.Val375Met Uncertain significance Single submitter
- DET1 p.Val55Ile Uncertain significance Single submitter
Predictors split 34
The independent predictors disagree with each other — read with care.
- DET1 p.Ala134Val Uncertain significance Single submitter
- DET1 p.Ala160Pro Uncertain significance Single submitter
- DET1 p.Ala491Val Uncertain significance Single submitter
- DET1 p.Ala503Val Uncertain significance Single submitter
- DET1 p.Arg117Gln Uncertain significance Single submitter
- DET1 p.Arg119Trp Uncertain significance Single submitter
- DET1 p.Arg11Gln Uncertain significance Single submitter
- DET1 p.Arg152Cys Uncertain significance Single submitter
- DET1 p.Arg185Trp Uncertain significance Single submitter
- DET1 p.Arg254Gln Uncertain significance Single submitter
- DET1 p.Arg25Gln Uncertain significance Single submitter
- DET1 p.Arg25Trp Uncertain significance Single submitter
- DET1 p.Arg305Cys Uncertain significance Single submitter
- DET1 p.Arg318Cys Uncertain significance Single submitter
- DET1 p.Arg515Gln Uncertain significance Single submitter
- DET1 p.Arg516Cys Uncertain significance Single submitter
- DET1 p.Arg70Cys Uncertain significance Single submitter
- DET1 p.Asn415Lys Uncertain significance Single submitter
- DET1 p.Asp264Glu Uncertain significance Single submitter
- DET1 p.Asp338Val Uncertain significance Single submitter
- DET1 p.Asp358Val Uncertain significance Single submitter
- DET1 p.Asp493Asn Uncertain significance Single submitter
- DET1 p.Glu391Gln Uncertain significance Single submitter
- DET1 p.Ile376Thr Uncertain significance Single submitter
- DET1 p.Leu299Phe Uncertain significance Single submitter
- DET1 p.Met370Leu Uncertain significance Single submitter
- DET1 p.Met545Lys Uncertain significance Single submitter
- DET1 p.Phe209Val Uncertain significance Single submitter
- DET1 p.Phe499Leu Uncertain significance Single submitter
- DET1 p.Phe525Leu Uncertain significance Single submitter
- DET1 p.Ser494Leu Uncertain significance Single submitter
- DET1 p.Thr372Met Uncertain significance Single submitter
- DET1 p.Thr382Ile Uncertain significance Single submitter
- DET1 p.Trp304Arg Uncertain significance Single submitter
All DET1 variants
Likely benign 5
Uncertain significance 91
- c.-1A>G Single submitter
- c.-3A>G Single submitter
- p.Ala134Val Single submitter ⚠
- p.Ala160Pro Single submitter ⚠
- p.Ala491Val Single submitter ⚠
- p.Ala503Val Single submitter ⚠
- p.Ala529Thr Single submitter ⚠
- p.Ala93Gly Single submitter ⚠
- p.Arg117Gln Single submitter ⚠
- p.Arg119Gln Single submitter ⚠
- p.Arg119Trp Single submitter ⚠
- p.Arg11Gln Single submitter ⚠
- p.Arg123Cys Single submitter ⚠
- p.Arg152Cys Single submitter ⚠
- p.Arg175Gln Single submitter ⚠
- p.Arg185Trp Single submitter ⚠
- p.Arg202His Single submitter ⚠
- p.Arg207Cys Single submitter ⚠
- p.Arg21Cys Single submitter
- p.Arg21His Single submitter
- p.Arg24Cys Single submitter ⚠
- p.Arg24His Single submitter ⚠
- p.Arg254Gln Single submitter ⚠
- p.Arg25Gln Single submitter ⚠
- p.Arg25Trp Single submitter ⚠
- p.Arg26Trp Single submitter
- p.Arg277Gln Single submitter ⚠
- p.Arg305Cys Single submitter ⚠
- p.Arg306Gln Single submitter ⚠
- p.Arg318Cys Single submitter ⚠
- p.Arg318Gly Single submitter ⚠
- p.Arg318His Single submitter ⚠
- p.Arg424Trp Single submitter ⚠
- p.Arg508Cys Single submitter
- p.Arg515Gln Single submitter ⚠
- p.Arg516Cys Single submitter ⚠
- p.Arg70Cys Single submitter ⚠
- p.Asn107Ser Single submitter ⚠
- p.Asn136Ser Single submitter ⚠
- p.Asn415Lys Single submitter ⚠
- p.Asn416Ile Single submitter ⚠
- p.Asp264Glu Single submitter ⚠
- p.Asp338Val Single submitter ⚠
- p.Asp358Val Single submitter ⚠
- p.Asp384His Single submitter ⚠
- p.Asp469Val Single submitter ⚠
- p.Asp493Asn Single submitter ⚠
- p.Asp95Glu Single submitter ⚠
- p.Cys90Ser Single submitter ⚠
- p.Gln111Leu Single submitter ⚠
- p.Gln280His Single submitter ⚠
- p.Glu388Asp Single submitter ⚠
- p.Glu391Gln Single submitter ⚠
- p.Gly457Ser Single submitter ⚠
- p.Gly89Ser Single submitter ⚠
- p.His437Gln Single submitter ⚠
- p.Ile376Thr Single submitter ⚠
- p.Leu120Pro Single submitter ⚠
- p.Leu216Ser Single submitter ⚠
- p.Leu216Val Single submitter ⚠
- p.Leu232Phe Single submitter ⚠
- p.Leu299Phe Single submitter ⚠
- p.Leu387Ser Single submitter ⚠
- p.Met370Leu Single submitter ⚠
- p.Met545Lys Single submitter ⚠
- p.Phe209Val Single submitter ⚠
- p.Phe259Tyr Single submitter
- p.Phe319Cys Single submitter ⚠
- p.Phe379Val Single submitter ⚠
- p.Phe499Leu Single submitter ⚠
- p.Phe525Leu Single submitter ⚠
- p.Pro10Ala Single submitter ⚠
- p.Pro184Gln Single submitter ⚠
- p.Ser145Asn Single submitter ⚠
- p.Ser279Ile Single submitter ⚠
- p.Ser279Thr Single submitter ⚠
- p.Ser494Leu Single submitter ⚠
- p.Thr208Met Single submitter ⚠
- p.Thr249Ser Single submitter ⚠
- p.Thr372Met Single submitter ⚠
- p.Thr382Ile Single submitter ⚠
- p.Thr550Met Single submitter ⚠
- p.Thr7Ala Single submitter ⚠
- p.Trp304Arg Single submitter ⚠
- p.Tyr261Cys Single submitter ⚠
- p.Tyr322Phe Single submitter ⚠
- p.Val114Met Single submitter ⚠
- p.Val271Leu Single submitter ⚠
- p.Val367Ala Single submitter ⚠
- p.Val375Met Single submitter ⚠
- p.Val55Ile Single submitter ⚠