EYA3 — 59 ClinVar variants
All ClinVar germline EYA3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 49 flagged for review →
1 Benign · 2 Likely benign · 56 Uncertain significance
Full EYA3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 49
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 37
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- EYA3 p.Ala187Val Uncertain significance Single submitter
- EYA3 p.Arg253Ser Uncertain significance Single submitter
- EYA3 p.Arg279Lys Uncertain significance Single submitter
- EYA3 p.Arg287Trp Uncertain significance Single submitter
- EYA3 p.Arg420Gln Uncertain significance Single submitter
- EYA3 p.Arg62His Uncertain significance Single submitter
- EYA3 p.Asn358Asp Uncertain significance Single submitter
- EYA3 p.Asn46Asp Uncertain significance Single submitter
- EYA3 p.Asp258Tyr Uncertain significance Single submitter
- EYA3 p.Asp258Val Uncertain significance Single submitter
- EYA3 p.Glu19Gly Uncertain significance Single submitter
- EYA3 p.Gly221Ser Uncertain significance Single submitter
- EYA3 p.Gly435Val Uncertain significance Single submitter
- EYA3 p.His160Tyr Uncertain significance Single submitter
- EYA3 p.Met127Val Uncertain significance Single submitter
- EYA3 p.Met245Ile Uncertain significance Single submitter
- EYA3 p.Met343Val Uncertain significance Single submitter
- EYA3 p.Phe306Tyr Uncertain significance Single submitter
- EYA3 p.Pro164Ala Uncertain significance Single submitter
- EYA3 p.Pro333Ala Uncertain significance Single submitter
- EYA3 p.Pro38Thr Uncertain significance Single submitter
- EYA3 p.Ser176Pro Uncertain significance Single submitter
- EYA3 p.Ser229Gly Uncertain significance Single submitter
- EYA3 p.Ser239Leu Uncertain significance Single submitter
- EYA3 p.Ser264Phe Uncertain significance Single submitter
- EYA3 p.Ser42Thr Uncertain significance Single submitter
- EYA3 p.Ser458Phe Uncertain significance Single submitter
- EYA3 p.Ser517Thr Uncertain significance Single submitter
- EYA3 p.Ser86Ala Uncertain significance Single submitter
- EYA3 p.Ser86Leu Uncertain significance Single submitter
- EYA3 p.Thr114Ala Uncertain significance Single submitter
- EYA3 p.Thr149Ala Uncertain significance Single submitter
- EYA3 p.Thr177Ala Uncertain significance Single submitter
- EYA3 p.Thr220Ile Uncertain significance Single submitter
- EYA3 p.Thr231Ala Uncertain significance Single submitter
- EYA3 p.Thr274Ser Uncertain significance Single submitter
- EYA3 p.Val33Ile Uncertain significance Single submitter
Predictors split 12
The independent predictors disagree with each other — read with care.
- EYA3 p.Ala463Val Uncertain significance Single submitter
- EYA3 p.Arg62Cys Uncertain significance Single submitter
- EYA3 p.Gln113Leu Uncertain significance Single submitter
- EYA3 p.Gln205Arg Uncertain significance Single submitter
- EYA3 p.Leu145Phe Uncertain significance Single submitter
- EYA3 p.Thr531Ser Uncertain significance Single submitter
- EYA3 p.Tyr115Cys Uncertain significance Single submitter
- EYA3 p.Tyr77Ser Uncertain significance Single submitter
- EYA3 p.Val336Leu Uncertain significance Single submitter
- EYA3 p.Val405Gly Uncertain significance Single submitter
- EYA3 p.Val433Met Uncertain significance Single submitter
- EYA3 p.Asn358Ser Uncertain significance No assertion criteria
All EYA3 variants
Benign 1
- c.994-9G>A Single submitter
Likely benign 2
- c.224+8G>A Single submitter
- p.Ala246Val Single submitter
Uncertain significance 56
- c.1083+2T>C Single submitter
- c.224_224+1delinsC Single submitter
- p.Ala187Val Single submitter ⚠
- p.Ala463Val Single submitter ⚠
- p.Arg253Ser Single submitter ⚠
- p.Arg279Lys Single submitter ⚠
- p.Arg287Gln Single submitter
- p.Arg287Trp Single submitter ⚠
- p.Arg420Gln Single submitter ⚠
- p.Arg62Cys Single submitter ⚠
- p.Arg62His Single submitter ⚠
- p.Asn358Asp Single submitter ⚠
- p.Asn46Asp Single submitter ⚠
- p.Asp258Tyr Single submitter ⚠
- p.Asp258Val Single submitter ⚠
- p.Gln113Leu Single submitter ⚠
- p.Gln205Arg Single submitter ⚠
- p.Glu19Gly Single submitter ⚠
- p.Gly221Ser Single submitter ⚠
- p.Gly400Asp Single submitter
- p.Gly435Val Single submitter ⚠
- p.His160Tyr Single submitter ⚠
- p.Leu145Phe Single submitter ⚠
- p.Met127Val Single submitter ⚠
- p.Met245Ile Single submitter ⚠
- p.Met343Val Single submitter ⚠
- p.Phe306Tyr Single submitter ⚠
- p.Pro164Ala Single submitter ⚠
- p.Pro333Ala Single submitter ⚠
- p.Pro38Thr Single submitter ⚠
- p.Ser176Pro Single submitter ⚠
- p.Ser229Gly Single submitter ⚠
- p.Ser239Leu Single submitter ⚠
- p.Ser264Phe Single submitter ⚠
- p.Ser384Ile Single submitter
- p.Ser42Thr Single submitter ⚠
- p.Ser458Phe Single submitter ⚠
- p.Ser517Thr Single submitter ⚠
- p.Ser86Ala Single submitter ⚠
- p.Ser86Leu Single submitter ⚠
- p.Thr114Ala Single submitter ⚠
- p.Thr149Ala Single submitter ⚠
- p.Thr177Ala Single submitter ⚠
- p.Thr220Ile Single submitter ⚠
- p.Thr231Ala Single submitter ⚠
- p.Thr274Ser Single submitter ⚠
- p.Thr531Ser Single submitter ⚠
- p.Tyr115Cys Single submitter ⚠
- p.Tyr77Ser Single submitter ⚠
- p.Val336Leu Single submitter ⚠
- p.Val33Ile Single submitter ⚠
- p.Val405Gly Single submitter ⚠
- p.Val433Met Single submitter ⚠
- p.Val454_Leu455insTer Single submitter
- p.Val562Ala Single submitter
- p.Asn358Ser No assertion criteria ⚠