XPO4 — 94 ClinVar variants
All ClinVar germline XPO4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 87 flagged for review →
1 Benign · 1 Likely benign · 92 Uncertain significance
Full XPO4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 87
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 76
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- XPO4 p.Ala520Val Uncertain significance Single submitter
- XPO4 p.Arg196His Uncertain significance Single submitter
- XPO4 p.Arg266Gln Uncertain significance Single submitter
- XPO4 p.Arg283Gln Uncertain significance Single submitter
- XPO4 p.Arg384Gln Uncertain significance Single submitter
- XPO4 p.Arg644Cys Uncertain significance Single submitter
- XPO4 p.Arg736Gln Uncertain significance Single submitter
- XPO4 p.Arg896Gln Uncertain significance Single submitter
- XPO4 p.Arg947Ser Uncertain significance Single submitter
- XPO4 p.Asn231Ser Uncertain significance Single submitter
- XPO4 p.Asn332Ser Uncertain significance Single submitter
- XPO4 p.Asn434Ser Uncertain significance Single submitter
- XPO4 p.Asn529Asp Uncertain significance Single submitter
- XPO4 p.Asn823Ser Uncertain significance Single submitter
- XPO4 p.Asn853Ser Uncertain significance Single submitter
- XPO4 p.Asp1111Glu Uncertain significance Single submitter
- XPO4 p.Asp1111His Uncertain significance Single submitter
- XPO4 p.Asp194Tyr Uncertain significance Single submitter
- XPO4 p.Asp271Asn Uncertain significance Single submitter
- XPO4 p.Asp910Tyr Uncertain significance Single submitter
- XPO4 p.Cys723Ser Uncertain significance Single submitter
- XPO4 p.Cys796Tyr Uncertain significance Single submitter
- XPO4 p.Gln218Glu Uncertain significance Single submitter
- XPO4 p.Gln316Glu Uncertain significance Single submitter
- XPO4 p.Gln697Arg Uncertain significance Single submitter
- XPO4 p.Glu1094Lys Uncertain significance Single submitter
- XPO4 p.Glu490Asp Uncertain significance Single submitter
- XPO4 p.Glu800Gln Uncertain significance Single submitter
- XPO4 p.Glu850Asp Uncertain significance Single submitter
- XPO4 p.Gly314Arg Uncertain significance Single submitter
- XPO4 p.Gly7Ala Uncertain significance Single submitter
- XPO4 p.His322Gln Uncertain significance Single submitter
- XPO4 p.Ile248Val Uncertain significance Single submitter
- XPO4 p.Ile331Val Uncertain significance Single submitter
- XPO4 p.Ile344Leu Uncertain significance Single submitter
- XPO4 p.Ile595Val Uncertain significance Single submitter
- XPO4 p.Ile679Thr Uncertain significance Single submitter
- XPO4 p.Ile687Val Uncertain significance Single submitter
- XPO4 p.Leu270Val Uncertain significance Single submitter
- XPO4 p.Leu841Trp Uncertain significance Single submitter
- XPO4 p.Lys846Arg Uncertain significance Single submitter
- XPO4 p.Met1141Leu Uncertain significance Single submitter
- XPO4 p.Met180Val Uncertain significance Single submitter
- XPO4 p.Met397Val Uncertain significance Single submitter
- XPO4 p.Met795Ile Uncertain significance Single submitter
- XPO4 p.Phe1078Leu Uncertain significance Single submitter
- XPO4 p.Pro562Ser Uncertain significance Single submitter
- XPO4 p.Pro9Leu Uncertain significance Single submitter
- XPO4 p.Ser1090Cys Uncertain significance Single submitter
- XPO4 p.Ser127Leu Uncertain significance Single submitter
- XPO4 p.Ser254Leu Uncertain significance Single submitter
- XPO4 p.Ser345Cys Uncertain significance Single submitter
- XPO4 p.Ser346Thr Uncertain significance Single submitter
- XPO4 p.Ser385Asn Uncertain significance Single submitter
- XPO4 p.Ser480Cys Uncertain significance Single submitter
- XPO4 p.Ser603Cys Uncertain significance Single submitter
- XPO4 p.Ser745Asn Uncertain significance Single submitter
- XPO4 p.Thr1124Ala Uncertain significance Single submitter
- XPO4 p.Thr1124Met Uncertain significance Single submitter
- XPO4 p.Thr426Ile Uncertain significance Single submitter
- XPO4 p.Thr451Ile Uncertain significance Single submitter
- XPO4 p.Thr627Ile Uncertain significance Single submitter
- XPO4 p.Thr848Asn Uncertain significance Single submitter
- XPO4 p.Thr975Ser Uncertain significance Single submitter
- XPO4 p.Tyr436His Uncertain significance Single submitter
- XPO4 p.Val342Met Uncertain significance Single submitter
- XPO4 p.Val617Ile Uncertain significance Single submitter
- XPO4 p.Val652Ala Uncertain significance Single submitter
- XPO4 p.Val692Ile Uncertain significance Single submitter
- XPO4 p.Val775Ile Uncertain significance Single submitter
- XPO4 p.Val786Leu Uncertain significance Single submitter
- XPO4 p.Val824Leu Uncertain significance Single submitter
- XPO4 p.Val844Phe Uncertain significance Single submitter
- XPO4 p.Val888Leu Uncertain significance Single submitter
- XPO4 p.Val901Ala Uncertain significance Single submitter
- XPO4 p.Val901Ile Uncertain significance Single submitter
Predictors split 11
The independent predictors disagree with each other — read with care.
- XPO4 p.Ala162Val Uncertain significance Single submitter
- XPO4 p.Arg225Cys Uncertain significance Single submitter
- XPO4 p.Arg506Ser Uncertain significance Single submitter
- XPO4 p.Arg896Trp Uncertain significance Single submitter
- XPO4 p.Asn175Lys Uncertain significance Single submitter
- XPO4 p.Asp445His Uncertain significance Single submitter
- XPO4 p.Gly1146Arg Uncertain significance Single submitter
- XPO4 p.Leu1002Gln Uncertain significance Single submitter
- XPO4 p.Leu116Ile Uncertain significance Single submitter
- XPO4 p.Phe355Leu Uncertain significance Single submitter
- XPO4 p.Phe368Leu Uncertain significance Single submitter
All XPO4 variants
Benign 1
- p.Phe382= Single submitter
Likely benign 1
- p.Leu215= Multiple submitters
Uncertain significance 92
- p.Ala162Val Single submitter ⚠
- p.Ala292Val Single submitter
- p.Ala520Val Single submitter ⚠
- p.Arg196His Single submitter ⚠
- p.Arg225Cys Single submitter ⚠
- p.Arg266Gln Single submitter ⚠
- p.Arg283Gln Single submitter ⚠
- p.Arg384Gln Single submitter ⚠
- p.Arg506Ser Single submitter ⚠
- p.Arg644Cys Single submitter ⚠
- p.Arg736Gln Single submitter ⚠
- p.Arg896Gln Single submitter ⚠
- p.Arg896Trp Single submitter ⚠
- p.Arg947Ser Single submitter ⚠
- p.Asn175Lys Single submitter ⚠
- p.Asn231Ser Single submitter ⚠
- p.Asn332Ser Single submitter ⚠
- p.Asn434Ser Single submitter ⚠
- p.Asn529Asp Single submitter ⚠
- p.Asn823Ser Single submitter ⚠
- p.Asn853Ser Single submitter ⚠
- p.Asp1111Glu Single submitter ⚠
- p.Asp1111His Single submitter ⚠
- p.Asp194Tyr Single submitter ⚠
- p.Asp271Asn Single submitter ⚠
- p.Asp445His Single submitter ⚠
- p.Asp910Tyr Single submitter ⚠
- p.Cys380Gly Single submitter
- p.Cys723Ser Single submitter ⚠
- p.Cys796Tyr Single submitter ⚠
- p.Gln218Glu Single submitter ⚠
- p.Gln316Glu Single submitter ⚠
- p.Gln697Arg Single submitter ⚠
- p.Glu1094Lys Single submitter ⚠
- p.Glu490Asp Single submitter ⚠
- p.Glu800Gln Single submitter ⚠
- p.Glu850Asp Single submitter ⚠
- p.Gly1146Arg Single submitter ⚠
- p.Gly314Arg Single submitter ⚠
- p.Gly7Ala Single submitter ⚠
- p.His183fs Single submitter
- p.His322Gln Single submitter ⚠
- p.Ile248Val Single submitter ⚠
- p.Ile331Val Single submitter ⚠
- p.Ile344Leu Single submitter ⚠
- p.Ile595Val Single submitter ⚠
- p.Ile679Thr Single submitter ⚠
- p.Ile687Val Single submitter ⚠
- p.Leu1002Gln Single submitter ⚠
- p.Leu116Ile Single submitter ⚠
- p.Leu270Val Single submitter ⚠
- p.Leu375Phe Single submitter
- p.Leu841Trp Single submitter ⚠
- p.Lys846Arg Single submitter ⚠
- p.Met1141Leu Single submitter ⚠
- p.Met180Val Single submitter ⚠
- p.Met397Val Single submitter ⚠
- p.Met795Ile Single submitter ⚠
- p.Phe1078Leu Single submitter ⚠
- p.Phe355Leu Single submitter ⚠
- p.Phe368Leu Single submitter ⚠
- p.Pro559Leu Single submitter
- p.Pro562Ser Single submitter ⚠
- p.Pro9Leu Single submitter ⚠
- p.Ser1090Cys Single submitter ⚠
- p.Ser127Leu Single submitter ⚠
- p.Ser254Leu Single submitter ⚠
- p.Ser345Cys Single submitter ⚠
- p.Ser346Thr Single submitter ⚠
- p.Ser385Asn Single submitter ⚠
- p.Ser480Cys Single submitter ⚠
- p.Ser603Cys Single submitter ⚠
- p.Ser745Asn Single submitter ⚠
- p.Thr1124Ala Single submitter ⚠
- p.Thr1124Met Single submitter ⚠
- p.Thr426Ile Single submitter ⚠
- p.Thr451Ile Single submitter ⚠
- p.Thr627Ile Single submitter ⚠
- p.Thr848Asn Single submitter ⚠
- p.Thr975Ser Single submitter ⚠
- p.Tyr436His Single submitter ⚠
- p.Val342Met Single submitter ⚠
- p.Val617Ile Single submitter ⚠
- p.Val652Ala Single submitter ⚠
- p.Val692Ile Single submitter ⚠
- p.Val775Ile Single submitter ⚠
- p.Val786Leu Single submitter ⚠
- p.Val824Leu Single submitter ⚠
- p.Val844Phe Single submitter ⚠
- p.Val888Leu Single submitter ⚠
- p.Val901Ala Single submitter ⚠
- p.Val901Ile Single submitter ⚠