SFPQ — 50 ClinVar variants
All ClinVar germline SFPQ variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 45 flagged for review →
2 Benign · 3 Likely benign · 45 Uncertain significance
Full SFPQ gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 45
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 25
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- SFPQ p.Ala127Val Uncertain significance Single submitter
- SFPQ p.Arg25Ser Uncertain significance Single submitter
- SFPQ p.Arg591Cys Uncertain significance Single submitter
- SFPQ p.Arg666Cys Uncertain significance Single submitter
- SFPQ p.Asn377Ser Uncertain significance Single submitter
- SFPQ p.Asp406Asn Uncertain significance Single submitter
- SFPQ p.Gln98His Uncertain significance Single submitter
- SFPQ p.Gly116Ser Uncertain significance Single submitter
- SFPQ p.Gly26Ser Uncertain significance Single submitter
- SFPQ p.His483Arg Uncertain significance Single submitter
- SFPQ p.His94Gln Uncertain significance Single submitter
- SFPQ p.Leu28Pro Uncertain significance Single submitter
- SFPQ p.Pro117Ala Uncertain significance Single submitter
- SFPQ p.Pro216Gln Uncertain significance Single submitter
- SFPQ p.Pro216Leu Uncertain significance Single submitter
- SFPQ p.Pro99Ser Uncertain significance Single submitter
- SFPQ p.Ser129Asn Uncertain significance Single submitter
- SFPQ p.Ser654Gly Uncertain significance Single submitter
- SFPQ p.Thr355Ile Uncertain significance Single submitter
- SFPQ p.Thr441Ile Uncertain significance Single submitter
- SFPQ p.Thr652Ser Uncertain significance Single submitter
- SFPQ p.Val110Ile Uncertain significance Single submitter
- SFPQ p.Val111Ala Uncertain significance Single submitter
- SFPQ p.Val675Leu Uncertain significance Single submitter
- SFPQ p.Gln69His Uncertain significance No assertion criteria
Predictors split 20
The independent predictors disagree with each other — read with care.
- SFPQ p.Arg583Cys Uncertain significance Single submitter
- SFPQ p.Arg583Gly Uncertain significance Single submitter
- SFPQ p.Arg706Gln Uncertain significance Single submitter
- SFPQ p.Asn533Asp Uncertain significance Single submitter
- SFPQ p.Glu322Lys Uncertain significance Single submitter
- SFPQ p.Glu509Ala Uncertain significance Single submitter
- SFPQ p.Glu509Gly Uncertain significance Single submitter
- SFPQ p.Gly277Arg Uncertain significance Single submitter
- SFPQ p.Gly45Arg Uncertain significance Single submitter
- SFPQ p.Gly677Glu Uncertain significance Single submitter
- SFPQ p.Leu438Val Uncertain significance Single submitter
- SFPQ p.Met657Ile Uncertain significance Single submitter
- SFPQ p.Pro102Arg Uncertain significance Single submitter
- SFPQ p.Pro126Leu Uncertain significance Single submitter
- SFPQ p.Pro56Ser Uncertain significance Single submitter
- SFPQ p.Pro62Leu Uncertain significance Single submitter
- SFPQ p.Pro73Ala Uncertain significance Single submitter
- SFPQ p.Pro77Ser Uncertain significance Single submitter
- SFPQ p.Pro78Ser Uncertain significance Single submitter
- SFPQ p.Pro84Leu Uncertain significance Single submitter
All SFPQ variants
Uncertain significance 45
- p.Ala127Val Single submitter ⚠
- p.Arg25Ser Single submitter ⚠
- p.Arg583Cys Single submitter ⚠
- p.Arg583Gly Single submitter ⚠
- p.Arg591Cys Single submitter ⚠
- p.Arg666Cys Single submitter ⚠
- p.Arg706Gln Single submitter ⚠
- p.Asn377Ser Single submitter ⚠
- p.Asn533Asp Single submitter ⚠
- p.Asp406Asn Single submitter ⚠
- p.Gln98His Single submitter ⚠
- p.Glu322Lys Single submitter ⚠
- p.Glu509Ala Single submitter ⚠
- p.Glu509Gly Single submitter ⚠
- p.Gly116Ser Single submitter ⚠
- p.Gly26Ser Single submitter ⚠
- p.Gly277Arg Single submitter ⚠
- p.Gly45Arg Single submitter ⚠
- p.Gly677Glu Single submitter ⚠
- p.His483Arg Single submitter ⚠
- p.His94Gln Single submitter ⚠
- p.Leu28Pro Single submitter ⚠
- p.Leu438Val Single submitter ⚠
- p.Met657Ile Single submitter ⚠
- p.Pro102Arg Single submitter ⚠
- p.Pro117Ala Single submitter ⚠
- p.Pro126Leu Single submitter ⚠
- p.Pro216Gln Single submitter ⚠
- p.Pro216Leu Single submitter ⚠
- p.Pro56Ser Single submitter ⚠
- p.Pro62Leu Single submitter ⚠
- p.Pro73Ala Single submitter ⚠
- p.Pro77Ser Single submitter ⚠
- p.Pro78Ser Single submitter ⚠
- p.Pro84Leu Single submitter ⚠
- p.Pro99Ser Single submitter ⚠
- p.Ser129Asn Single submitter ⚠
- p.Ser654Gly Single submitter ⚠
- p.Thr355Ile Single submitter ⚠
- p.Thr441Ile Single submitter ⚠
- p.Thr652Ser Single submitter ⚠
- p.Val110Ile Single submitter ⚠
- p.Val111Ala Single submitter ⚠
- p.Val675Leu Single submitter ⚠
- p.Gln69His No assertion criteria ⚠