EFNA2 — 34 ClinVar variants
All ClinVar germline EFNA2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 30 flagged for review →
1 Likely benign · 33 Uncertain significance
Full EFNA2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 30
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 24
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- EFNA2 p.Ala180Thr Uncertain significance Single submitter
- EFNA2 p.Arg105His Uncertain significance Single submitter
- EFNA2 p.Arg161Gln Uncertain significance Single submitter
- EFNA2 p.Arg6Pro Uncertain significance Single submitter
- EFNA2 p.Asn157Ser Uncertain significance Single submitter
- EFNA2 p.Asn33Thr Uncertain significance Single submitter
- EFNA2 p.Asp28Gly Uncertain significance Single submitter
- EFNA2 p.Glu175Gln Uncertain significance Single submitter
- EFNA2 p.Gly58Asp Uncertain significance Single submitter
- EFNA2 p.Ile71Phe Uncertain significance Single submitter
- EFNA2 p.Leu8Pro Uncertain significance Single submitter
- EFNA2 p.Phe133Leu Uncertain significance Single submitter
- EFNA2 p.Pro10Leu Uncertain significance Single submitter
- EFNA2 p.Pro117Leu Uncertain significance Single submitter
- EFNA2 p.Pro172Leu Uncertain significance Single submitter
- EFNA2 p.Pro194Arg Uncertain significance Single submitter
- EFNA2 p.Pro194Ser Uncertain significance Single submitter
- EFNA2 p.Pro3Ser Uncertain significance Single submitter
- EFNA2 p.Ser152Phe Uncertain significance Single submitter
- EFNA2 p.Ser34Thr Uncertain significance Single submitter
- EFNA2 p.Thr134Met Uncertain significance Single submitter
- EFNA2 p.Thr173Asn Uncertain significance Single submitter
- EFNA2 p.Tyr40Cys Uncertain significance Single submitter
- EFNA2 p.Val170Met Uncertain significance Single submitter
Predictors split 6
The independent predictors disagree with each other — read with care.
- EFNA2 p.Gly122Arg Uncertain significance Single submitter
- EFNA2 p.His99Asn Uncertain significance Single submitter
- EFNA2 p.Leu124Phe Uncertain significance Single submitter
- EFNA2 p.Pro17Arg Uncertain significance Single submitter
- EFNA2 p.Pro22Thr Uncertain significance Single submitter
- EFNA2 p.Pro82Leu Uncertain significance Single submitter
All EFNA2 variants
Likely benign 1
- p.Pro194Leu Single submitter
Uncertain significance 33
- p.Ala180Thr Single submitter ⚠
- p.Arg105His Single submitter ⚠
- p.Arg161Gln Single submitter ⚠
- p.Arg171Trp Single submitter
- p.Arg43Leu Single submitter
- p.Arg6Pro Single submitter ⚠
- p.Asn157Ser Single submitter ⚠
- p.Asn33Thr Single submitter ⚠
- p.Asp28Gly Single submitter ⚠
- p.Glu175Gln Single submitter ⚠
- p.Gly122Arg Single submitter ⚠
- p.Gly58Asp Single submitter ⚠
- p.His99Asn Single submitter ⚠
- p.Ile71Phe Single submitter ⚠
- p.Leu124Phe Single submitter ⚠
- p.Leu8Pro Single submitter ⚠
- p.Phe133Leu Single submitter ⚠
- p.Pro10Leu Single submitter ⚠
- p.Pro117Leu Single submitter ⚠
- p.Pro172Leu Single submitter ⚠
- p.Pro17Arg Single submitter ⚠
- p.Pro194Arg Single submitter ⚠
- p.Pro194Ser Single submitter ⚠
- p.Pro22Thr Single submitter ⚠
- p.Pro3Ser Single submitter ⚠
- p.Pro82Leu Single submitter ⚠
- p.Ser152Phe Single submitter ⚠
- p.Ser34Thr Single submitter ⚠
- p.Thr134Met Single submitter ⚠
- p.Thr173Asn Single submitter ⚠
- p.Tyr178Ser Single submitter
- p.Tyr40Cys Single submitter ⚠
- p.Val170Met Single submitter ⚠