SFXN1 — 40 ClinVar variants
All ClinVar germline SFXN1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 35 flagged for review →
2 Benign · 1 Likely benign · 37 Uncertain significance
Full SFXN1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 35
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 28
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- SFXN1 p.Ala158Thr Uncertain significance Single submitter
- SFXN1 p.Ala160Val Uncertain significance Single submitter
- SFXN1 p.Ala219Val Uncertain significance Single submitter
- SFXN1 p.Ala222Val Uncertain significance Single submitter
- SFXN1 p.Ala255Val Uncertain significance Single submitter
- SFXN1 p.Ala300Thr Uncertain significance Single submitter
- SFXN1 p.Ala71Pro Uncertain significance Single submitter
- SFXN1 p.Arg314Gln Uncertain significance Single submitter
- SFXN1 p.Asn10Ser Uncertain significance Single submitter
- SFXN1 p.Asn189His Uncertain significance Single submitter
- SFXN1 p.Asn211Asp Uncertain significance Single submitter
- SFXN1 p.Asp139His Uncertain significance Single submitter
- SFXN1 p.Glu13Gly Uncertain significance Single submitter
- SFXN1 p.His80Gln Uncertain significance Single submitter
- SFXN1 p.Ile193Thr Uncertain significance Single submitter
- SFXN1 p.Met107Lys Uncertain significance Single submitter
- SFXN1 p.Met196Thr Uncertain significance Single submitter
- SFXN1 p.Phe318Val Uncertain significance Single submitter
- SFXN1 p.Pro194Thr Uncertain significance Single submitter
- SFXN1 p.Pro34Thr Uncertain significance Single submitter
- SFXN1 p.Pro61Ala Uncertain significance Single submitter
- SFXN1 p.Pro81Leu Uncertain significance Single submitter
- SFXN1 p.Ser218Leu Uncertain significance Single submitter
- SFXN1 p.Trp122Arg Uncertain significance Single submitter
- SFXN1 p.Tyr75Cys Uncertain significance Single submitter
- SFXN1 p.Val159Ile Uncertain significance Single submitter
- SFXN1 p.Val230Phe Uncertain significance Single submitter
- SFXN1 p.Val231Ala Uncertain significance Single submitter
Predictors split 7
The independent predictors disagree with each other — read with care.
- SFXN1 p.Ala238Gly Uncertain significance Single submitter
- SFXN1 p.Ala71Val Uncertain significance Single submitter
- SFXN1 p.Glu45Gly Uncertain significance Single submitter
- SFXN1 p.Glu45Lys Uncertain significance Single submitter
- SFXN1 p.Gly84Ser Uncertain significance Single submitter
- SFXN1 p.Val131Ile Uncertain significance Single submitter
- SFXN1 p.Val277Met Uncertain significance Single submitter
All SFXN1 variants
Benign 2
- p.Ala47= Single submitter
- p.Asn26Ser Single submitter
Likely benign 1
- p.Ala222= Single submitter
Uncertain significance 37
- p.Ala158Thr Single submitter ⚠
- p.Ala160Val Single submitter ⚠
- p.Ala219Val Single submitter ⚠
- p.Ala222Val Single submitter ⚠
- p.Ala238Gly Single submitter ⚠
- p.Ala255Val Single submitter ⚠
- p.Ala300Thr Single submitter ⚠
- p.Ala71Pro Single submitter ⚠
- p.Ala71Val Single submitter ⚠
- p.Arg314Gln Single submitter ⚠
- p.Asn10Ser Single submitter ⚠
- p.Asn189His Single submitter ⚠
- p.Asn211Asp Single submitter ⚠
- p.Asp139His Single submitter ⚠
- p.Glu13Gly Single submitter ⚠
- p.Glu45Gly Single submitter ⚠
- p.Glu45Lys Single submitter ⚠
- p.Gly84Ser Single submitter ⚠
- p.His80Gln Single submitter ⚠
- p.Ile193Thr Single submitter ⚠
- p.Met107Lys Single submitter ⚠
- p.Met196Thr Single submitter ⚠
- p.Phe318Val Single submitter ⚠
- p.Pro115Leu Single submitter
- p.Pro194Thr Single submitter ⚠
- p.Pro34Thr Single submitter ⚠
- p.Pro61Ala Single submitter ⚠
- p.Pro81Leu Single submitter ⚠
- p.Ser218Leu Single submitter ⚠
- p.Ser77Ala Single submitter
- p.Trp122Arg Single submitter ⚠
- p.Tyr75Cys Single submitter ⚠
- p.Val131Ile Single submitter ⚠
- p.Val159Ile Single submitter ⚠
- p.Val230Phe Single submitter ⚠
- p.Val231Ala Single submitter ⚠
- p.Val277Met Single submitter ⚠