EYA2 — 71 ClinVar variants
All ClinVar germline EYA2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 62 flagged for review →
2 Benign · 3 Likely benign · 66 Uncertain significance
Full EYA2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 62
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 52
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- EYA2 p.Ala153Thr Uncertain significance Single submitter
- EYA2 p.Ala359Val Uncertain significance Single submitter
- EYA2 p.Ala524Thr Uncertain significance Single submitter
- EYA2 p.Ala76Gly Uncertain significance Single submitter
- EYA2 p.Arg243Gln Uncertain significance Single submitter
- EYA2 p.Arg24His Uncertain significance Single submitter
- EYA2 p.Arg385Gln Uncertain significance Single submitter
- EYA2 p.Arg56Cys Uncertain significance Single submitter
- EYA2 p.Arg56Ser Uncertain significance Single submitter
- EYA2 p.Asn108His Uncertain significance Single submitter
- EYA2 p.Asn227Ser Uncertain significance Single submitter
- EYA2 p.Asn265Asp Uncertain significance Single submitter
- EYA2 p.Asn349Tyr Uncertain significance Single submitter
- EYA2 p.Asn396Lys Uncertain significance Single submitter
- EYA2 p.Asp258Glu Uncertain significance Single submitter
- EYA2 p.Asp264Asn Uncertain significance Single submitter
- EYA2 p.Asp26Glu Uncertain significance Single submitter
- EYA2 p.Gln145His Uncertain significance Single submitter
- EYA2 p.Glu310Asp Uncertain significance Single submitter
- EYA2 p.Glu485Lys Uncertain significance Single submitter
- EYA2 p.Gly151Ser Uncertain significance Single submitter
- EYA2 p.Gly367Val Uncertain significance Single submitter
- EYA2 p.Gly373Ser Uncertain significance Single submitter
- EYA2 p.Gly37Asp Uncertain significance Single submitter
- EYA2 p.His138Asp Uncertain significance Single submitter
- EYA2 p.His209Tyr Uncertain significance Single submitter
- EYA2 p.His242Arg Uncertain significance Single submitter
- EYA2 p.His427Leu Uncertain significance Single submitter
- EYA2 p.Ile304Val Uncertain significance Single submitter
- EYA2 p.Ile435Val Uncertain significance Single submitter
- EYA2 p.Leu423Phe Uncertain significance Single submitter
- EYA2 p.Met488Val Uncertain significance Single submitter
- EYA2 p.Pro170Leu Uncertain significance Single submitter
- EYA2 p.Pro175Leu Uncertain significance Single submitter
- EYA2 p.Pro184Leu Uncertain significance Single submitter
- EYA2 p.Pro194Arg Uncertain significance Single submitter
- EYA2 p.Pro241Leu Uncertain significance Single submitter
- EYA2 p.Pro88Ser Uncertain significance Single submitter
- EYA2 p.Ser106Gly Uncertain significance Single submitter
- EYA2 p.Ser195Leu Uncertain significance Single submitter
- EYA2 p.Ser260Cys Uncertain significance Single submitter
- EYA2 p.Ser33Asn Uncertain significance Single submitter
- EYA2 p.Ser41Leu Uncertain significance Single submitter
- EYA2 p.Ser75Gly Uncertain significance Single submitter
- EYA2 p.Thr134Ala Uncertain significance Single submitter
- EYA2 p.Trp376Cys Uncertain significance Single submitter
- EYA2 p.Val159Met Uncertain significance Single submitter
- EYA2 p.Val203Ile Uncertain significance Single submitter
- EYA2 p.Val211Ile Uncertain significance Single submitter
- EYA2 p.Val272Met Uncertain significance Single submitter
- EYA2 p.Val374Met Uncertain significance Single submitter
- EYA2 p.Val398Gly Uncertain significance Single submitter
Predictors split 10
The independent predictors disagree with each other — read with care.
-
EYA2 p.Gly251Cys
Uncertain significance
Multiple submitters
hereditary breast ovarian cancer syndrome
- EYA2 p.His319Tyr Uncertain significance Single submitter
- EYA2 p.His513Tyr Uncertain significance Single submitter
- EYA2 p.Ile469Val Uncertain significance Single submitter
- EYA2 p.Ser195Trp Uncertain significance Single submitter
- EYA2 p.Ser358Leu Uncertain significance Single submitter
- EYA2 p.Thr299Met Uncertain significance Single submitter
- EYA2 p.Tyr133His Uncertain significance Single submitter
- EYA2 p.Val336Ile Uncertain significance Single submitter
- EYA2 p.Val387Leu Uncertain significance Single submitter
All EYA2 variants
Benign 2
- p.Ala93Thr Multiple submitters
- p.Thr238Ala Multiple submitters
Likely benign 3
- p.Ala362Thr Single submitter
- p.Gly179= Single submitter
- p.Leu285Ile No assertion criteria EBV-positive nodal T- and NK-cell lymphoma
Uncertain significance 66
- p.Gly251Cys Multiple submitters hereditary breast ovarian cancer syndrome ⚠
- p.Ala153Thr Single submitter ⚠
- p.Ala359Val Single submitter ⚠
- p.Ala524Thr Single submitter ⚠
- p.Ala76Gly Single submitter ⚠
- p.Arg243Gln Single submitter ⚠
- p.Arg24His Single submitter ⚠
- p.Arg250Gln Single submitter
- p.Arg385Gln Single submitter ⚠
- p.Arg56Cys Single submitter ⚠
- p.Arg56Ser Single submitter ⚠
- p.Asn108His Single submitter ⚠
- p.Asn227Ser Single submitter ⚠
- p.Asn265Asp Single submitter ⚠
- p.Asn349Tyr Single submitter ⚠
- p.Asn396Lys Single submitter ⚠
- p.Asp258Glu Single submitter ⚠
- p.Asp264Asn Single submitter ⚠
- p.Asp26Glu Single submitter ⚠
- p.Gln145His Single submitter ⚠
- p.Glu104Ala Single submitter
- p.Glu310Asp Single submitter ⚠
- p.Glu485Lys Single submitter ⚠
- p.Gly151Ser Single submitter ⚠
- p.Gly179Arg Single submitter
- p.Gly367Val Single submitter ⚠
- p.Gly373Ser Single submitter ⚠
- p.Gly37Asp Single submitter ⚠
- p.His138Asp Single submitter ⚠
- p.His209Tyr Single submitter ⚠
- p.His242Arg Single submitter ⚠
- p.His319Tyr Single submitter ⚠
- p.His427Leu Single submitter ⚠
- p.His513Tyr Single submitter ⚠
- p.Ile304Val Single submitter ⚠
- p.Ile435Val Single submitter ⚠
- p.Ile469Val Single submitter ⚠
- p.Leu423Phe Single submitter ⚠
- p.Met488Val Single submitter ⚠
- p.Pro170Leu Single submitter ⚠
- p.Pro175Leu Single submitter ⚠
- p.Pro184Leu Single submitter ⚠
- p.Pro194Arg Single submitter ⚠
- p.Pro241Leu Single submitter ⚠
- p.Pro88Ser Single submitter ⚠
- p.Ser106Gly Single submitter ⚠
- p.Ser195Leu Single submitter ⚠
- p.Ser195Trp Single submitter ⚠
- p.Ser260Cys Single submitter ⚠
- p.Ser33Asn Single submitter ⚠
- p.Ser358Leu Single submitter ⚠
- p.Ser41Leu Single submitter ⚠
- p.Ser75Gly Single submitter ⚠
- p.Thr134Ala Single submitter ⚠
- p.Thr299Met Single submitter ⚠
- p.Trp376Cys Single submitter ⚠
- p.Tyr133His Single submitter ⚠
- p.Val159Met Single submitter ⚠
- p.Val203Ile Single submitter ⚠
- p.Val211Ile Single submitter ⚠
- p.Val272Met Single submitter ⚠
- p.Val302Met Single submitter
- p.Val336Ile Single submitter ⚠
- p.Val374Met Single submitter ⚠
- p.Val387Leu Single submitter ⚠
- p.Val398Gly Single submitter ⚠