SORT1 — 85 ClinVar variants
All ClinVar germline SORT1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 65 flagged for review →
7 Benign · 10 Likely benign · 68 Uncertain significance
Full SORT1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 65
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 53
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- SORT1 p.Arg288Lys Uncertain significance Single submitter
- SORT1 p.Arg311His Uncertain significance Single submitter
- SORT1 p.Arg382Gln Uncertain significance Single submitter
- SORT1 p.Arg564Lys Uncertain significance Single submitter
- SORT1 p.Asn163Ser Uncertain significance Single submitter
- SORT1 p.Asp291Ala Uncertain significance Single submitter
- SORT1 p.Asp629Val Uncertain significance Single submitter
- SORT1 p.Asp805Gly Uncertain significance Single submitter
- SORT1 p.Asp83Asn Uncertain significance Single submitter
- SORT1 p.Asp83His Uncertain significance Single submitter
- SORT1 p.Asp91Asn Uncertain significance Single submitter
- SORT1 p.Glu285Lys Uncertain significance Single submitter
- SORT1 p.Glu748Gln Uncertain significance Single submitter
- SORT1 p.Gly247Glu Uncertain significance Single submitter
- SORT1 p.Gly369Val Uncertain significance Single submitter
- SORT1 p.Gly637Ser Uncertain significance Single submitter
- SORT1 p.Gly87Arg Uncertain significance Single submitter
- SORT1 p.Gly87Asp Uncertain significance Single submitter
- SORT1 p.His16Arg Uncertain significance Single submitter
- SORT1 p.His439Tyr Uncertain significance Single submitter
- SORT1 p.Ile174Met Uncertain significance Single submitter
- SORT1 p.Ile267Val Uncertain significance Single submitter
- SORT1 p.Ile299Val Uncertain significance Single submitter
- SORT1 p.Ile468Val Uncertain significance Single submitter
- SORT1 p.Ile547Leu Uncertain significance Single submitter
- SORT1 p.Ile602Thr Uncertain significance Single submitter
- SORT1 p.Ile607Met Uncertain significance Single submitter
- SORT1 p.Ile619Thr Uncertain significance Single submitter
- SORT1 p.Ile635Met Uncertain significance Single submitter
- SORT1 p.Ile718Val Uncertain significance Single submitter
- SORT1 p.Leu32Pro Uncertain significance Single submitter
- SORT1 p.Leu440Pro Uncertain significance Single submitter
- SORT1 p.Lys243Arg Uncertain significance Single submitter
- SORT1 p.Lys243Asn Uncertain significance Single submitter
- SORT1 p.Lys615Glu Uncertain significance Single submitter
- SORT1 p.Lys95Arg Uncertain significance Single submitter
- SORT1 p.Met476Val Uncertain significance Single submitter
- SORT1 p.Pro482Ser Uncertain significance Single submitter
- SORT1 p.Pro566Ala Uncertain significance Single submitter
- SORT1 p.Pro747Leu Uncertain significance Single submitter
- SORT1 p.Ser814Phe Uncertain significance Single submitter
- SORT1 p.Thr270Ser Uncertain significance Single submitter
- SORT1 p.Thr331Ala Uncertain significance Single submitter
- SORT1 p.Thr561Met Uncertain significance Single submitter
- SORT1 p.Thr816Asn Uncertain significance Single submitter
- SORT1 p.Tyr600Phe Uncertain significance Single submitter
- SORT1 p.Val183Met Uncertain significance Single submitter
- SORT1 p.Val329Ile Uncertain significance Single submitter
- SORT1 p.Val365Ile Uncertain significance Single submitter
- SORT1 p.Val485Ile Uncertain significance Single submitter
- SORT1 p.Val546Ala Uncertain significance Single submitter
- SORT1 p.Val764Met Uncertain significance Single submitter
- SORT1 p.Val772Leu Uncertain significance Single submitter
Predictors split 12
The independent predictors disagree with each other — read with care.
- SORT1 p.Asp358Tyr Benign Multiple submitters
- SORT1 p.Ala340Thr Uncertain significance Single submitter
- SORT1 p.Arg326Ser Uncertain significance Single submitter
- SORT1 p.Arg392Leu Uncertain significance Single submitter
- SORT1 p.Asp449Gly Uncertain significance Single submitter
- SORT1 p.Cys257Tyr Uncertain significance Single submitter
- SORT1 p.Gly400Arg Uncertain significance Single submitter
- SORT1 p.Phe139Ser Uncertain significance Single submitter
- SORT1 p.Phe269Leu Uncertain significance Single submitter
- SORT1 p.Pro213Leu Uncertain significance Single submitter
- SORT1 p.Val345Leu Uncertain significance Single submitter
- SORT1 p.Val494Leu Uncertain significance Single submitter
All SORT1 variants
Benign 7
- p.Asp358Tyr Multiple submitters ⚠
- p.Ser746Asn Multiple submitters
- c.543+8T>A Single submitter
- p.Phe198= No assertion criteria SORT1-related disorder
- p.Pro4= No assertion criteria SORT1-related disorder
- p.Ser540= No assertion criteria SORT1-related disorder
- p.Thr323= No assertion criteria SORT1-related disorder
Likely benign 10
- p.Arg193His Single submitter
- p.Asp211Asn Single submitter
- p.Glu447Gly Single submitter
- p.Ile124Val Single submitter
- p.Lys302Glu Single submitter
- p.Ser111= Single submitter
- c.544-5A>G No assertion criteria SORT1-related disorder
- p.Ile763= No assertion criteria SORT1-related disorder
- p.Pro747= No assertion criteria SORT1-related disorder
- p.Ser409= No assertion criteria SORT1-related disorder
Uncertain significance 68
- p.Ala340Thr Single submitter ⚠
- p.Arg288Lys Single submitter ⚠
- p.Arg311His Single submitter ⚠
- p.Arg326Ser Single submitter ⚠
- p.Arg382Gln Single submitter ⚠
- p.Arg392Leu Single submitter ⚠
- p.Arg564Lys Single submitter ⚠
- p.Arg731Ter Single submitter
- p.Asn163Ser Single submitter ⚠
- p.Asp291Ala Single submitter ⚠
- p.Asp381Gly Single submitter
- p.Asp449Gly Single submitter ⚠
- p.Asp629Val Single submitter ⚠
- p.Asp805Gly Single submitter ⚠
- p.Asp83Asn Single submitter ⚠
- p.Asp83His Single submitter ⚠
- p.Asp91Asn Single submitter ⚠
- p.Cys257Tyr Single submitter ⚠
- p.Glu285Lys Single submitter ⚠
- p.Glu748Gln Single submitter ⚠
- p.Gly175Cys Single submitter
- p.Gly247Glu Single submitter ⚠
- p.Gly369Val Single submitter ⚠
- p.Gly400Arg Single submitter ⚠
- p.Gly637Ser Single submitter ⚠
- p.Gly87Arg Single submitter ⚠
- p.Gly87Asp Single submitter ⚠
- p.His16Arg Single submitter ⚠
- p.His439Tyr Single submitter ⚠
- p.Ile174Met Single submitter ⚠
- p.Ile267Val Single submitter ⚠
- p.Ile299Val Single submitter ⚠
- p.Ile468Val Single submitter ⚠
- p.Ile547Leu Single submitter ⚠
- p.Ile602Thr Single submitter ⚠
- p.Ile607Met Single submitter ⚠
- p.Ile619Thr Single submitter ⚠
- p.Ile635Met Single submitter ⚠
- p.Ile718Val Single submitter ⚠
- p.Leu32Pro Single submitter ⚠
- p.Leu440Pro Single submitter ⚠
- p.Lys243Arg Single submitter ⚠
- p.Lys243Asn Single submitter ⚠
- p.Lys615Glu Single submitter ⚠
- p.Lys95Arg Single submitter ⚠
- p.Met476Val Single submitter ⚠
- p.Phe139Ser Single submitter ⚠
- p.Phe269Leu Single submitter ⚠
- p.Pro213Leu Single submitter ⚠
- p.Pro482Ser Single submitter ⚠
- p.Pro566Ala Single submitter ⚠
- p.Pro747Leu Single submitter ⚠
- p.Ser508_Asp509insTer Single submitter
- p.Ser814Phe Single submitter ⚠
- p.Thr270Ser Single submitter ⚠
- p.Thr331Ala Single submitter ⚠
- p.Thr561Met Single submitter ⚠
- p.Thr816Asn Single submitter ⚠
- p.Tyr600Phe Single submitter ⚠
- p.Val183Met Single submitter ⚠
- p.Val329Ile Single submitter ⚠
- p.Val345Leu Single submitter ⚠
- p.Val365Ile Single submitter ⚠
- p.Val485Ile Single submitter ⚠
- p.Val494Leu Single submitter ⚠
- p.Val546Ala Single submitter ⚠
- p.Val764Met Single submitter ⚠
- p.Val772Leu Single submitter ⚠