SQLE — 61 ClinVar variants
All ClinVar germline SQLE variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 51 flagged for review →
1 Pathogenic · 6 Likely benign · 54 Uncertain significance
Full SQLE gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 51
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 46
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- SQLE p.Ala24Ser Uncertain significance Single submitter
- SQLE p.Ala490Gly Uncertain significance Single submitter
- SQLE p.Ala552Thr Uncertain significance Single submitter
- SQLE p.Ala81Thr Uncertain significance Single submitter
- SQLE p.Arg26Gly Uncertain significance Single submitter
- SQLE p.Arg401Gly Uncertain significance Single submitter
- SQLE p.Arg458Thr Uncertain significance Single submitter
- SQLE p.Arg47Cys Uncertain significance Single submitter
- SQLE p.Asp481Val Uncertain significance Single submitter
- SQLE p.Asp482Glu Uncertain significance Single submitter
- SQLE p.Gln316Leu Uncertain significance Single submitter
- SQLE p.Glu256Gly Uncertain significance Single submitter
- SQLE p.Glu256Lys Uncertain significance Single submitter
- SQLE p.Glu362Gly Uncertain significance Single submitter
- SQLE p.Glu449Lys Uncertain significance Single submitter
- SQLE p.Glu500Lys Uncertain significance Single submitter
- SQLE p.Glu91Gly Uncertain significance Single submitter
- SQLE p.Gly179Val Uncertain significance Single submitter
- SQLE p.Gly227Arg Uncertain significance Single submitter
- SQLE p.Gly52Cys Uncertain significance Single submitter
- SQLE p.Ile110Val Uncertain significance Single submitter
- SQLE p.Ile21Asn Uncertain significance Single submitter
- SQLE p.Ile273Thr Uncertain significance Single submitter
- SQLE p.Ile561Val Uncertain significance Single submitter
- SQLE p.Ile565Val Uncertain significance Single submitter
- SQLE p.Leu280Arg Uncertain significance Single submitter
- SQLE p.Leu377Ser Uncertain significance Single submitter
- SQLE p.Lys203Arg Uncertain significance Single submitter
- SQLE p.Lys299Glu Uncertain significance Single submitter
- SQLE p.Met311Thr Uncertain significance Single submitter
- SQLE p.Met360Val Uncertain significance Single submitter
- SQLE p.Met572Val Uncertain significance Single submitter
- SQLE p.Phe376Leu Uncertain significance Single submitter
- SQLE p.Pro329Leu Uncertain significance Single submitter
- SQLE p.Pro329Ser Uncertain significance Single submitter
- SQLE p.Pro516Arg Uncertain significance Single submitter
- SQLE p.Ser220Gly Uncertain significance Single submitter
- SQLE p.Ser478Cys Uncertain significance Single submitter
- SQLE p.Ser83Phe Uncertain significance Single submitter
- SQLE p.Thr116Arg Uncertain significance Single submitter
- SQLE p.Thr118Ala Uncertain significance Single submitter
- SQLE p.Thr422Ser Uncertain significance Single submitter
- SQLE p.Tyr555His Uncertain significance Single submitter
- SQLE p.Val259Asp Uncertain significance Single submitter
- SQLE p.Val553Ile Uncertain significance Single submitter
- SQLE p.Val573Phe Uncertain significance Single submitter
Predictors split 5
The independent predictors disagree with each other — read with care.
All SQLE variants
Pathogenic 1
- p.Asp427fs No assertion criteria hypercholesterolemia, familial, 1
Likely benign 6
- p.Cys115Ser Single submitter
- p.Gln367= Single submitter
- p.Glu358= Single submitter
- p.Gly181Glu Single submitter
- p.Ile528Val Single submitter
- p.Phe425Leu Single submitter
Uncertain significance 54
- p.Ala24Ser Single submitter ⚠
- p.Ala490Gly Single submitter ⚠
- p.Ala552Thr Single submitter ⚠
- p.Ala81Thr Single submitter ⚠
- p.Arg228Gly Single submitter ⚠
- p.Arg234Trp Single submitter
- p.Arg26Gly Single submitter ⚠
- p.Arg401Gly Single submitter ⚠
- p.Arg458Thr Single submitter ⚠
- p.Arg47Cys Single submitter ⚠
- p.Asp481Val Single submitter ⚠
- p.Asp482Glu Single submitter ⚠
- p.Gln316Leu Single submitter ⚠
- p.Glu256Gly Single submitter ⚠
- p.Glu256Lys Single submitter ⚠
- p.Glu362Gly Single submitter ⚠
- p.Glu449Lys Single submitter ⚠
- p.Glu500Lys Single submitter ⚠
- p.Glu91Gly Single submitter ⚠
- p.Gly179Val Single submitter ⚠
- p.Gly227Arg Single submitter ⚠
- p.Gly248Ser Single submitter
- p.Gly52Cys Single submitter ⚠
- p.Ile110Val Single submitter ⚠
- p.Ile21Asn Single submitter ⚠
- p.Ile273Thr Single submitter ⚠
- p.Ile561Val Single submitter ⚠
- p.Ile565Val Single submitter ⚠
- p.Leu280Arg Single submitter ⚠
- p.Leu287Arg Single submitter ⚠
- p.Leu377Ser Single submitter ⚠
- p.Lys203Arg Single submitter ⚠
- p.Lys299Glu Single submitter ⚠
- p.Met311Thr Single submitter ⚠
- p.Met360Val Single submitter ⚠
- p.Met572Val Single submitter ⚠
- p.Phe317Leu Single submitter ⚠
- p.Phe376Leu Single submitter ⚠
- p.Pro329Leu Single submitter ⚠
- p.Pro329Ser Single submitter ⚠
- p.Pro516Arg Single submitter ⚠
- p.Ser220Gly Single submitter ⚠
- p.Ser478Cys Single submitter ⚠
- p.Ser83Phe Single submitter ⚠
- p.Thr116Arg Single submitter ⚠
- p.Thr118Ala Single submitter ⚠
- p.Thr3fs Single submitter
- p.Thr422Ser Single submitter ⚠
- p.Thr9Ile Single submitter ⚠
- p.Trp2Arg Single submitter ⚠
- p.Tyr555His Single submitter ⚠
- p.Val259Asp Single submitter ⚠
- p.Val553Ile Single submitter ⚠
- p.Val573Phe Single submitter ⚠