SFXN3 — 43 ClinVar variants
All ClinVar germline SFXN3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 36 flagged for review →
1 Likely benign · 42 Uncertain significance
Full SFXN3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 36
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.
- SFXN3 p.Gln267Arg Uncertain significance Multiple submitters
- SFXN3 p.Ala149Thr Uncertain significance Single submitter
- SFXN3 p.Ala161Thr Uncertain significance Single submitter
- SFXN3 p.Ala264Pro Uncertain significance Single submitter
- SFXN3 p.Ala41Thr Uncertain significance Single submitter
- SFXN3 p.Arg135Cys Uncertain significance Single submitter
- SFXN3 p.Arg135His Uncertain significance Single submitter
- SFXN3 p.Arg25Gln Uncertain significance Single submitter
- SFXN3 p.Arg91His Uncertain significance Single submitter
- SFXN3 p.Asp248Tyr Uncertain significance Single submitter
- SFXN3 p.Cys274Tyr Uncertain significance Single submitter
- SFXN3 p.Gly156Arg Uncertain significance Single submitter
- SFXN3 p.Gly40Arg Uncertain significance Single submitter
- SFXN3 p.His79Tyr Uncertain significance Single submitter
- SFXN3 p.Leu171Pro Uncertain significance Single submitter
- SFXN3 p.Lys222Glu Uncertain significance Single submitter
- SFXN3 p.Met247Arg Uncertain significance Single submitter
- SFXN3 p.Pro205Leu Uncertain significance Single submitter
- SFXN3 p.Pro238Leu Uncertain significance Single submitter
- SFXN3 p.Pro280Ser Uncertain significance Single submitter
- SFXN3 p.Ser18Gly Uncertain significance Single submitter
- SFXN3 p.Thr160Met Uncertain significance Single submitter
- SFXN3 p.Thr59Asn Uncertain significance Single submitter
- SFXN3 p.Tyr110His Uncertain significance Single submitter
Predictors split 12
The independent predictors disagree with each other — read with care.
- SFXN3 p.Arg14His Uncertain significance Single submitter
- SFXN3 p.Arg258Cys Uncertain significance Single submitter
- SFXN3 p.Arg259Cys Uncertain significance Single submitter
- SFXN3 p.Arg34Gln Uncertain significance Single submitter
- SFXN3 p.Asn99Tyr Uncertain significance Single submitter
- SFXN3 p.Glu209Lys Uncertain significance Single submitter
- SFXN3 p.Glu44Lys Uncertain significance Single submitter
- SFXN3 p.Gly176Ser Uncertain significance Single submitter
- SFXN3 p.Ile292Thr Uncertain significance Single submitter
- SFXN3 p.Thr168Ile Uncertain significance Single submitter
- SFXN3 p.Trp261Arg Uncertain significance Single submitter
- SFXN3 p.Val50Met Uncertain significance Single submitter
All SFXN3 variants
Likely benign 1
- p.Val312Ile Single submitter
Uncertain significance 42
- p.Ala210fs Multiple submitters neurodevelopmental disorder
- p.Gln267Arg Multiple submitters ⚠
- p.Ala149Thr Single submitter ⚠
- p.Ala161Thr Single submitter ⚠
- p.Ala220Val Single submitter
- p.Ala264Pro Single submitter ⚠
- p.Ala41Thr Single submitter ⚠
- p.Arg135Cys Single submitter ⚠
- p.Arg135His Single submitter ⚠
- p.Arg14His Single submitter ⚠
- p.Arg258Cys Single submitter ⚠
- p.Arg259Cys Single submitter ⚠
- p.Arg25Gln Single submitter ⚠
- p.Arg34Gln Single submitter ⚠
- p.Arg91His Single submitter ⚠
- p.Asn99Tyr Single submitter ⚠
- p.Asp248Tyr Single submitter ⚠
- p.Cys274Tyr Single submitter ⚠
- p.Glu209Lys Single submitter ⚠
- p.Glu44Lys Single submitter ⚠
- p.Gly156Arg Single submitter ⚠
- p.Gly176Ser Single submitter ⚠
- p.Gly40Arg Single submitter ⚠
- p.Gly56Ala Single submitter
- p.His79Tyr Single submitter ⚠
- p.Ile292Thr Single submitter ⚠
- p.Leu171Pro Single submitter ⚠
- p.Lys222Glu Single submitter ⚠
- p.Met247Arg Single submitter ⚠
- p.Pro205Leu Single submitter ⚠
- p.Pro238Leu Single submitter ⚠
- p.Pro280Ser Single submitter ⚠
- p.Ser18Gly Single submitter ⚠
- p.Thr103Ala Single submitter
- p.Thr160Met Single submitter ⚠
- p.Thr168Ile Single submitter ⚠
- p.Thr59Asn Single submitter ⚠
- p.Trp261Arg Single submitter ⚠
- p.Tyr110His Single submitter ⚠
- p.Tyr53His Single submitter
- p.Val116Met Single submitter
- p.Val50Met Single submitter ⚠