ATE1 — 82 ClinVar variants
All ClinVar germline ATE1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 70 flagged for review →
6 Benign · 4 Likely benign · 72 Uncertain significance
Full ATE1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 70
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 58
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ATE1 p.Ala123Thr Uncertain significance Single submitter
- ATE1 p.Ala125Val Uncertain significance Single submitter
- ATE1 p.Ala246Pro Uncertain significance Single submitter
- ATE1 p.Ala326Thr Uncertain significance Single submitter
- ATE1 p.Arg317Gly Uncertain significance Single submitter
- ATE1 p.Arg53Pro Uncertain significance Single submitter
- ATE1 p.Asn249Ile Uncertain significance Single submitter
- ATE1 p.Asp122Glu Uncertain significance Single submitter
- ATE1 p.Asp145Asn Uncertain significance Single submitter
- ATE1 p.Asp334Gly Uncertain significance Single submitter
- ATE1 p.Cys111Phe Uncertain significance Single submitter
- ATE1 p.Cys111Tyr Uncertain significance Single submitter
- ATE1 p.Cys362Gly Uncertain significance Single submitter
- ATE1 p.Gln421His Uncertain significance Single submitter
- ATE1 p.Gln455Arg Uncertain significance Single submitter
- ATE1 p.Glu18Asp Uncertain significance Single submitter
- ATE1 p.Glu230Gln Uncertain significance Single submitter
- ATE1 p.Glu458Lys Uncertain significance Single submitter
- ATE1 p.Gly178Ser Uncertain significance Single submitter
- ATE1 p.Gly6Arg Uncertain significance Single submitter
- ATE1 p.His395Pro Uncertain significance Single submitter
- ATE1 p.Ile358Val Uncertain significance Single submitter
- ATE1 p.Ile438Thr Uncertain significance Single submitter
- ATE1 p.Ile51Leu Uncertain significance Single submitter
- ATE1 p.Leu200Val Uncertain significance Single submitter
- ATE1 p.Leu257Val Uncertain significance Single submitter
- ATE1 p.Leu262Ser Uncertain significance Single submitter
- ATE1 p.Leu379Trp Uncertain significance Single submitter
- ATE1 p.Lys159Asn Uncertain significance Single submitter
- ATE1 p.Lys187Arg Uncertain significance Single submitter
- ATE1 p.Lys209Glu Uncertain significance Single submitter
- ATE1 p.Lys285Arg Uncertain significance Single submitter
- ATE1 p.Met513Val Uncertain significance Single submitter
- ATE1 p.Met97Val Uncertain significance Single submitter
- ATE1 p.Pro182Leu Uncertain significance Single submitter
- ATE1 p.Pro194Ser Uncertain significance Single submitter
- ATE1 p.Pro251Arg Uncertain significance Single submitter
- ATE1 p.Pro330His Uncertain significance Single submitter
- ATE1 p.Pro330Thr Uncertain significance Single submitter
- ATE1 p.Ser144Gly Uncertain significance Single submitter
- ATE1 p.Ser153Asn Uncertain significance Single submitter
- ATE1 p.Ser201Asn Uncertain significance Single submitter
- ATE1 p.Ser253Leu Uncertain significance Single submitter
- ATE1 p.Ser267Leu Uncertain significance Single submitter
- ATE1 p.Ser282Leu Uncertain significance Single submitter
- ATE1 p.Ser291Phe Uncertain significance Single submitter
- ATE1 p.Ser30Leu Uncertain significance Single submitter
- ATE1 p.Thr190Pro Uncertain significance Single submitter
- ATE1 p.Thr309Met Uncertain significance Single submitter
- ATE1 p.Thr328Ile Uncertain significance Single submitter
- ATE1 p.Thr466Met Uncertain significance Single submitter
- ATE1 p.Tyr337His Uncertain significance Single submitter
- ATE1 p.Tyr369Cys Uncertain significance Single submitter
- ATE1 p.Tyr370Cys Uncertain significance Single submitter
- ATE1 p.Tyr485His Uncertain significance Single submitter
- ATE1 p.Val173Ala Uncertain significance Single submitter
- ATE1 p.Val381Ile Uncertain significance Single submitter
- ATE1 p.Val498Ile Uncertain significance Single submitter
Predictors split 12
The independent predictors disagree with each other — read with care.
- ATE1 p.Arg297His Uncertain significance Single submitter
- ATE1 p.Asp373Gly Uncertain significance Single submitter
- ATE1 p.Cys451Phe Uncertain significance Single submitter
- ATE1 p.Glu271Gln Uncertain significance Single submitter
- ATE1 p.Glu325Gly Uncertain significance Single submitter
- ATE1 p.Glu511Lys Uncertain significance Single submitter
- ATE1 p.Gly348Arg Uncertain significance Single submitter
- ATE1 p.His341Gln Uncertain significance Single submitter
- ATE1 p.His395Leu Uncertain significance Single submitter
- ATE1 p.His411Asn Uncertain significance Single submitter
- ATE1 p.Trp345Cys Uncertain significance Single submitter
- ATE1 p.Tyr374Cys Uncertain significance Single submitter
All ATE1 variants
Benign 6
- c.1157+7T>C No assertion criteria ATE1-related disorder
- c.*8A>G No assertion criteria ATE1-related disorder
- p.Leu101= No assertion criteria ATE1-related disorder
- p.Phe3= No assertion criteria ATE1-related disorder
- p.Pro457= No assertion criteria ATE1-related disorder
- p.Ser412= No assertion criteria ATE1-related disorder
Likely benign 4
- p.Val173Ile Single submitter
- c.942+1004C>T No assertion criteria ATE1-related disorder
- p.Ala123= No assertion criteria ATE1-related disorder
- p.Asp357= No assertion criteria ATE1-related disorder
Uncertain significance 72
- p.Ala123Thr Single submitter ⚠
- p.Ala125Val Single submitter ⚠
- p.Ala246Pro Single submitter ⚠
- p.Ala326Thr Single submitter ⚠
- p.Arg297His Single submitter ⚠
- p.Arg317Gly Single submitter ⚠
- p.Arg53Pro Single submitter ⚠
- p.Asn249Ile Single submitter ⚠
- p.Asp122Glu Single submitter ⚠
- p.Asp145Asn Single submitter ⚠
- p.Asp334Gly Single submitter ⚠
- p.Asp373Gly Single submitter ⚠
- p.Cys111Phe Single submitter ⚠
- p.Cys111Tyr Single submitter ⚠
- p.Cys362Gly Single submitter ⚠
- p.Cys451Phe Single submitter ⚠
- p.Gln421His Single submitter ⚠
- p.Gln455Arg Single submitter ⚠
- p.Glu18Asp Single submitter ⚠
- p.Glu230Gln Single submitter ⚠
- p.Glu271Gln Single submitter ⚠
- p.Glu325Gly Single submitter ⚠
- p.Glu458Lys Single submitter ⚠
- p.Glu511Lys Single submitter ⚠
- p.Gly178Ser Single submitter ⚠
- p.Gly348Arg Single submitter ⚠
- p.Gly6Arg Single submitter ⚠
- p.His341Gln Single submitter ⚠
- p.His395Leu Single submitter ⚠
- p.His395Pro Single submitter ⚠
- p.His411Asn Single submitter ⚠
- p.Ile358Val Single submitter ⚠
- p.Ile438Thr Single submitter ⚠
- p.Ile51Leu Single submitter ⚠
- p.Leu200Val Single submitter ⚠
- p.Leu257Val Single submitter ⚠
- p.Leu262Ser Single submitter ⚠
- p.Leu379Trp Single submitter ⚠
- p.Lys159Asn Single submitter ⚠
- p.Lys187Arg Single submitter ⚠
- p.Lys209Glu Single submitter ⚠
- p.Lys285Arg Single submitter ⚠
- p.Met116Ile Single submitter
- p.Met513Val Single submitter ⚠
- p.Met97Val Single submitter ⚠
- p.Pro182Leu Single submitter ⚠
- p.Pro194Ser Single submitter ⚠
- p.Pro251Arg Single submitter ⚠
- p.Pro330His Single submitter ⚠
- p.Pro330Thr Single submitter ⚠
- p.Ser144Gly Single submitter ⚠
- p.Ser153Asn Single submitter ⚠
- p.Ser201Asn Single submitter ⚠
- p.Ser253Leu Single submitter ⚠
- p.Ser267Leu Single submitter ⚠
- p.Ser282Leu Single submitter ⚠
- p.Ser291Phe Single submitter ⚠
- p.Ser30Leu Single submitter ⚠
- p.Thr190Pro Single submitter ⚠
- p.Thr309Met Single submitter ⚠
- p.Thr328Ile Single submitter ⚠
- p.Thr466Met Single submitter ⚠
- p.Trp345Cys Single submitter ⚠
- p.Tyr337His Single submitter ⚠
- p.Tyr369Cys Single submitter ⚠
- p.Tyr370Cys Single submitter ⚠
- p.Tyr374Cys Single submitter ⚠
- p.Tyr485His Single submitter ⚠
- p.Val173Ala Single submitter ⚠
- p.Val381Ile Single submitter ⚠
- p.Val498Ile Single submitter ⚠
- p.Val498Phe Single submitter