EFNA5 — 18 ClinVar variants
All ClinVar germline EFNA5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 14 flagged for review →
1 Likely benign · 17 Uncertain significance
Full EFNA5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 14
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 10
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- EFNA5 p.Arg200His Uncertain significance Single submitter
- EFNA5 p.Cys164Tyr Uncertain significance Single submitter
- EFNA5 p.Gly201Asp Uncertain significance Single submitter
- EFNA5 p.His171Arg Uncertain significance Single submitter
- EFNA5 p.Leu14Phe Uncertain significance Single submitter
- EFNA5 p.Leu14Pro Uncertain significance Single submitter
- EFNA5 p.Ser163Asn Uncertain significance Single submitter
- EFNA5 p.Thr191Asn Uncertain significance Single submitter
- EFNA5 p.Thr227Lys Uncertain significance Single submitter
- EFNA5 p.Val192Ile Uncertain significance Single submitter
Predictors split 4
The independent predictors disagree with each other — read with care.
All EFNA5 variants
Likely benign 1
- p.Val34= Single submitter
Uncertain significance 17
- p.Arg200His Single submitter ⚠
- p.Asp145His Single submitter ⚠
- p.Asp190Ala Single submitter
- p.Cys164Tyr Single submitter ⚠
- p.Gly201Asp Single submitter ⚠
- p.His106Tyr Single submitter ⚠
- p.His171Arg Single submitter ⚠
- p.Leu14His Single submitter ⚠
- p.Leu14Phe Single submitter ⚠
- p.Leu14Pro Single submitter ⚠
- p.Lys26Glu Single submitter
- p.Phe118fs Single submitter
- p.Pro70Thr Single submitter ⚠
- p.Ser163Asn Single submitter ⚠
- p.Thr191Asn Single submitter ⚠
- p.Thr227Lys Single submitter ⚠
- p.Val192Ile Single submitter ⚠