EFNA3 — 28 ClinVar variants
All ClinVar germline EFNA3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 27 flagged for review →
1 Benign · 27 Uncertain significance
Full EFNA3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 27
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 20
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- EFNA3 p.Ala101Ser Uncertain significance Single submitter
- EFNA3 p.Ala168Val Uncertain significance Single submitter
- EFNA3 p.Arg219Gln Uncertain significance Single submitter
- EFNA3 p.Arg219Trp Uncertain significance Single submitter
- EFNA3 p.Arg45Trp Uncertain significance Single submitter
- EFNA3 p.Asn193Asp Uncertain significance Single submitter
- EFNA3 p.Asp57Glu Uncertain significance Single submitter
- EFNA3 p.Gln204Glu Uncertain significance Single submitter
- EFNA3 p.Glu84Gly Uncertain significance Single submitter
- EFNA3 p.Gly227Ser Uncertain significance Single submitter
- EFNA3 p.Gly80Ala Uncertain significance Single submitter
- EFNA3 p.His114Tyr Uncertain significance Single submitter
- EFNA3 p.His117Tyr Uncertain significance Single submitter
- EFNA3 p.Met90Val Uncertain significance Single submitter
- EFNA3 p.Pro223Leu Uncertain significance Single submitter
- EFNA3 p.Pro64Ala Uncertain significance Single submitter
- EFNA3 p.Ser216Ile Uncertain significance Single submitter
- EFNA3 p.Ser69Ala Uncertain significance Single submitter
- EFNA3 p.Val13Leu Uncertain significance Single submitter
- EFNA3 p.Val87Met Uncertain significance Single submitter
Predictors split 7
The independent predictors disagree with each other — read with care.
- EFNA3 p.His152Asp Uncertain significance Single submitter
- EFNA3 p.His43Tyr Uncertain significance Single submitter
- EFNA3 p.Leu18Gln Uncertain significance Single submitter
- EFNA3 p.Pro77Gln Uncertain significance Single submitter
- EFNA3 p.Pro77Leu Uncertain significance Single submitter
- EFNA3 p.Ser169Tyr Uncertain significance Single submitter
- EFNA3 p.Val71Met Uncertain significance Single submitter
All EFNA3 variants
Benign 1
- p.Ser133= Multiple submitters
Uncertain significance 27
- p.Ala101Ser Single submitter ⚠
- p.Ala168Val Single submitter ⚠
- p.Arg219Gln Single submitter ⚠
- p.Arg219Trp Single submitter ⚠
- p.Arg45Trp Single submitter ⚠
- p.Asn193Asp Single submitter ⚠
- p.Asp57Glu Single submitter ⚠
- p.Gln204Glu Single submitter ⚠
- p.Glu84Gly Single submitter ⚠
- p.Gly227Ser Single submitter ⚠
- p.Gly80Ala Single submitter ⚠
- p.His114Tyr Single submitter ⚠
- p.His117Tyr Single submitter ⚠
- p.His152Asp Single submitter ⚠
- p.His43Tyr Single submitter ⚠
- p.Leu18Gln Single submitter ⚠
- p.Met90Val Single submitter ⚠
- p.Pro223Leu Single submitter ⚠
- p.Pro64Ala Single submitter ⚠
- p.Pro77Gln Single submitter ⚠
- p.Pro77Leu Single submitter ⚠
- p.Ser169Tyr Single submitter ⚠
- p.Ser216Ile Single submitter ⚠
- p.Ser69Ala Single submitter ⚠
- p.Val13Leu Single submitter ⚠
- p.Val71Met Single submitter ⚠
- p.Val87Met Single submitter ⚠