ETAA1 — 120 ClinVar variants
All ClinVar germline ETAA1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 105 flagged for review →
3 Benign · 12 Likely benign · 105 Uncertain significance
Full ETAA1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 105
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 75
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ETAA1 p.Ala40Val Uncertain significance Single submitter
- ETAA1 p.Ala48Pro Uncertain significance Single submitter
- ETAA1 p.Ala48Val Uncertain significance Single submitter
- ETAA1 p.Ala544Val Uncertain significance Single submitter
- ETAA1 p.Ala586Thr Uncertain significance Single submitter
- ETAA1 p.Ala83Pro Uncertain significance Single submitter
- ETAA1 p.Ala920Ser Uncertain significance Single submitter
- ETAA1 p.Ala921Thr Uncertain significance Single submitter
- ETAA1 p.Arg341Gln Uncertain significance Single submitter
- ETAA1 p.Asn265Ser Uncertain significance Single submitter
- ETAA1 p.Asn477Ser Uncertain significance Single submitter
- ETAA1 p.Asn502Asp Uncertain significance Single submitter
- ETAA1 p.Asn502Thr Uncertain significance Single submitter
- ETAA1 p.Asn525Lys Uncertain significance Single submitter
- ETAA1 p.Asn566Asp Uncertain significance Single submitter
- ETAA1 p.Asn587Ser Uncertain significance Single submitter
- ETAA1 p.Asn744Asp Uncertain significance Single submitter
- ETAA1 p.Asp398Asn Uncertain significance Single submitter
- ETAA1 p.Asp412Ala Uncertain significance Single submitter
- ETAA1 p.Asp806Glu Uncertain significance Single submitter
- ETAA1 p.Asp806Tyr Uncertain significance Single submitter
- ETAA1 p.Asp87Ala Uncertain significance Single submitter
- ETAA1 p.Cys46Phe Uncertain significance Single submitter
- ETAA1 p.Gln271Lys Uncertain significance Single submitter
- ETAA1 p.Gln61Arg Uncertain significance Single submitter
- ETAA1 p.Gln685Arg Uncertain significance Single submitter
- ETAA1 p.Glu132Asp Uncertain significance Single submitter
- ETAA1 p.Glu159Lys Uncertain significance Single submitter
- ETAA1 p.Glu204Lys Uncertain significance Single submitter
- ETAA1 p.Glu390Gln Uncertain significance Single submitter
- ETAA1 p.Glu722Lys Uncertain significance Single submitter
- ETAA1 p.Gly118Ala Uncertain significance Single submitter
- ETAA1 p.Gly42Ser Uncertain significance Single submitter
- ETAA1 p.Gly47Arg Uncertain significance Single submitter
- ETAA1 p.Gly686Arg Uncertain significance Single submitter
- ETAA1 p.His135Tyr Uncertain significance Single submitter
- ETAA1 p.Ile105Val Uncertain significance Single submitter
- ETAA1 p.Ile157Leu Uncertain significance Single submitter
- ETAA1 p.Ile243Thr Uncertain significance Single submitter
- ETAA1 p.Ile506Thr Uncertain significance Single submitter
- ETAA1 p.Leu872Ser Uncertain significance Single submitter
- ETAA1 p.Lys15Glu Uncertain significance Single submitter
- ETAA1 p.Lys478Glu Uncertain significance Single submitter
- ETAA1 p.Lys487Asn Uncertain significance Single submitter
- ETAA1 p.Lys535Thr Uncertain significance Single submitter
- ETAA1 p.Lys684Glu Uncertain significance Single submitter
- ETAA1 p.Lys767Asn Uncertain significance Single submitter
- ETAA1 p.Lys892Arg Uncertain significance Single submitter
- ETAA1 p.Met152Leu Uncertain significance Single submitter
- ETAA1 p.Met155Leu Uncertain significance Single submitter
- ETAA1 p.Met718Val Uncertain significance Single submitter
- ETAA1 p.Phe274Ser Uncertain significance Single submitter
- ETAA1 p.Pro17Leu Uncertain significance Single submitter
- ETAA1 p.Pro32Ala Uncertain significance Single submitter
- ETAA1 p.Pro73Thr Uncertain significance Single submitter
- ETAA1 p.Pro799Ala Uncertain significance Single submitter
- ETAA1 p.Ser130Asn Uncertain significance Single submitter
- ETAA1 p.Ser28Leu Uncertain significance Single submitter
- ETAA1 p.Ser39Pro Uncertain significance Single submitter
- ETAA1 p.Ser561Thr Uncertain significance Single submitter
- ETAA1 p.Ser699Ile Uncertain significance Single submitter
- ETAA1 p.Ser773Asn Uncertain significance Single submitter
- ETAA1 p.Ser773Ile Uncertain significance Single submitter
- ETAA1 p.Thr353Ile Uncertain significance Single submitter
- ETAA1 p.Thr411Ser Uncertain significance Single submitter
- ETAA1 p.Thr432Ala Uncertain significance Single submitter
- ETAA1 p.Thr432Arg Uncertain significance Single submitter
- ETAA1 p.Thr475Ile Uncertain significance Single submitter
- ETAA1 p.Thr841Ile Uncertain significance Single submitter
- ETAA1 p.Thr923Ala Uncertain significance Single submitter
- ETAA1 p.Trp44Cys Uncertain significance Single submitter
- ETAA1 p.Tyr790His Uncertain significance Single submitter
- ETAA1 p.Val347Ile Uncertain significance Single submitter
- ETAA1 p.Val424Gly Uncertain significance Single submitter
- ETAA1 p.Val867Ala Uncertain significance Single submitter
Predictors split 30
The independent predictors disagree with each other — read with care.
- ETAA1 p.Arg121Ser Uncertain significance Single submitter
- ETAA1 p.Asn670Ser Uncertain significance Single submitter
- ETAA1 p.Asp603Val Uncertain significance Single submitter
- ETAA1 p.Asp658Gly Uncertain significance Single submitter
- ETAA1 p.Cys893Gly Uncertain significance Single submitter
- ETAA1 p.Glu189Gln Uncertain significance Single submitter
- ETAA1 p.Glu31Lys Uncertain significance Single submitter
- ETAA1 p.Glu896Gln Uncertain significance Single submitter
- ETAA1 p.Gly675Glu Uncertain significance Single submitter
- ETAA1 p.His18Tyr Uncertain significance Single submitter
- ETAA1 p.His674Arg Uncertain significance Single submitter
- ETAA1 p.Ile136Val Uncertain significance Single submitter
- ETAA1 p.Ile617Thr Uncertain significance Single submitter
- ETAA1 p.Ile636Val Uncertain significance Single submitter
- ETAA1 p.Ile655Phe Uncertain significance Single submitter
- ETAA1 p.Leu812Phe Uncertain significance Single submitter
- ETAA1 p.Lys172Glu Uncertain significance Single submitter
- ETAA1 p.Lys848Arg Uncertain significance Single submitter
- ETAA1 p.Met192Thr Uncertain significance Single submitter
- ETAA1 p.Ser111Cys Uncertain significance Single submitter
- ETAA1 p.Ser270Arg Uncertain significance Single submitter
- ETAA1 p.Ser2Arg Uncertain significance Single submitter
- ETAA1 p.Ser367Cys Uncertain significance Single submitter
- ETAA1 p.Ser474Ala Uncertain significance Single submitter
- ETAA1 p.Ser501Ala Uncertain significance Single submitter
- ETAA1 p.Ser514Tyr Uncertain significance Single submitter
- ETAA1 p.Ser561Arg Uncertain significance Single submitter
- ETAA1 p.Thr16Met Uncertain significance Single submitter
- ETAA1 p.Thr251Arg Uncertain significance Single submitter
- ETAA1 p.Thr500Ile Uncertain significance Single submitter
All ETAA1 variants
Likely benign 12
- p.Arg341Gly Single submitter
- p.Arg49Gly Single submitter
- p.Arg914Gln Single submitter
- p.Glu493Lys Single submitter
- p.Ile255Val Single submitter
- p.Leu768Ser Single submitter
- p.Met844Ile Single submitter
- p.Pro434Leu Single submitter
- p.Pro45Leu Single submitter
- p.Thr548Ile Single submitter
- p.Val443Ile Single submitter
- p.Val573Leu Single submitter
Uncertain significance 105
- p.Ala40Val Single submitter ⚠
- p.Ala48Pro Single submitter ⚠
- p.Ala48Val Single submitter ⚠
- p.Ala544Val Single submitter ⚠
- p.Ala586Thr Single submitter ⚠
- p.Ala83Pro Single submitter ⚠
- p.Ala920Ser Single submitter ⚠
- p.Ala921Thr Single submitter ⚠
- p.Arg121Ser Single submitter ⚠
- p.Arg341Gln Single submitter ⚠
- p.Asn265Ser Single submitter ⚠
- p.Asn477Ser Single submitter ⚠
- p.Asn502Asp Single submitter ⚠
- p.Asn502Thr Single submitter ⚠
- p.Asn525Lys Single submitter ⚠
- p.Asn566Asp Single submitter ⚠
- p.Asn587Ser Single submitter ⚠
- p.Asn670Ser Single submitter ⚠
- p.Asn744Asp Single submitter ⚠
- p.Asp398Asn Single submitter ⚠
- p.Asp412Ala Single submitter ⚠
- p.Asp603Val Single submitter ⚠
- p.Asp658Gly Single submitter ⚠
- p.Asp806Glu Single submitter ⚠
- p.Asp806Tyr Single submitter ⚠
- p.Asp87Ala Single submitter ⚠
- p.Cys46Phe Single submitter ⚠
- p.Cys893Gly Single submitter ⚠
- p.Gln271Lys Single submitter ⚠
- p.Gln61Arg Single submitter ⚠
- p.Gln685Arg Single submitter ⚠
- p.Glu132Asp Single submitter ⚠
- p.Glu159Lys Single submitter ⚠
- p.Glu189Gln Single submitter ⚠
- p.Glu204Lys Single submitter ⚠
- p.Glu31Lys Single submitter ⚠
- p.Glu390Gln Single submitter ⚠
- p.Glu722Lys Single submitter ⚠
- p.Glu896Gln Single submitter ⚠
- p.Gly118Ala Single submitter ⚠
- p.Gly42Ser Single submitter ⚠
- p.Gly47Arg Single submitter ⚠
- p.Gly675Glu Single submitter ⚠
- p.Gly686Arg Single submitter ⚠
- p.His135Tyr Single submitter ⚠
- p.His18Tyr Single submitter ⚠
- p.His674Arg Single submitter ⚠
- p.Ile105Val Single submitter ⚠
- p.Ile136Val Single submitter ⚠
- p.Ile157Leu Single submitter ⚠
- p.Ile243Thr Single submitter ⚠
- p.Ile506Thr Single submitter ⚠
- p.Ile617Thr Single submitter ⚠
- p.Ile636Val Single submitter ⚠
- p.Ile655Phe Single submitter ⚠
- p.Leu812Phe Single submitter ⚠
- p.Leu872Ser Single submitter ⚠
- p.Lys15Glu Single submitter ⚠
- p.Lys172Glu Single submitter ⚠
- p.Lys478Glu Single submitter ⚠
- p.Lys487Asn Single submitter ⚠
- p.Lys535Thr Single submitter ⚠
- p.Lys684Glu Single submitter ⚠
- p.Lys767Asn Single submitter ⚠
- p.Lys848Arg Single submitter ⚠
- p.Lys892Arg Single submitter ⚠
- p.Met152Leu Single submitter ⚠
- p.Met155Leu Single submitter ⚠
- p.Met192Thr Single submitter ⚠
- p.Met718Val Single submitter ⚠
- p.Phe274Ser Single submitter ⚠
- p.Pro17Leu Single submitter ⚠
- p.Pro32Ala Single submitter ⚠
- p.Pro73Thr Single submitter ⚠
- p.Pro799Ala Single submitter ⚠
- p.Ser111Cys Single submitter ⚠
- p.Ser130Asn Single submitter ⚠
- p.Ser270Arg Single submitter ⚠
- p.Ser28Leu Single submitter ⚠
- p.Ser2Arg Single submitter ⚠
- p.Ser367Cys Single submitter ⚠
- p.Ser39Pro Single submitter ⚠
- p.Ser474Ala Single submitter ⚠
- p.Ser501Ala Single submitter ⚠
- p.Ser514Tyr Single submitter ⚠
- p.Ser561Arg Single submitter ⚠
- p.Ser561Thr Single submitter ⚠
- p.Ser699Ile Single submitter ⚠
- p.Ser773Asn Single submitter ⚠
- p.Ser773Ile Single submitter ⚠
- p.Thr16Met Single submitter ⚠
- p.Thr251Arg Single submitter ⚠
- p.Thr353Ile Single submitter ⚠
- p.Thr411Ser Single submitter ⚠
- p.Thr432Ala Single submitter ⚠
- p.Thr432Arg Single submitter ⚠
- p.Thr475Ile Single submitter ⚠
- p.Thr500Ile Single submitter ⚠
- p.Thr841Ile Single submitter ⚠
- p.Thr923Ala Single submitter ⚠
- p.Trp44Cys Single submitter ⚠
- p.Tyr790His Single submitter ⚠
- p.Val347Ile Single submitter ⚠
- p.Val424Gly Single submitter ⚠
- p.Val867Ala Single submitter ⚠