SQOR — 65 ClinVar variants
All ClinVar germline SQOR variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 55 flagged for review →
2 Pathogenic · 6 Likely benign · 57 Uncertain significance
Full SQOR gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 55
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 40
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- SQOR p.Ala162Thr Uncertain significance Single submitter
- SQOR p.Ala17Asp Uncertain significance Single submitter
- SQOR p.Ala346Val Uncertain significance Single submitter
- SQOR p.Ala39Val Uncertain significance Single submitter
- SQOR p.Arg12Cys Uncertain significance Single submitter
- SQOR p.Arg79Lys Uncertain significance Single submitter
- SQOR p.Asn386Ser Uncertain significance Single submitter
- SQOR p.Asp133Asn Uncertain significance Single submitter
- SQOR p.Asp302His Uncertain significance Single submitter
- SQOR p.Gly238Arg Uncertain significance Single submitter
- SQOR p.Gly28Asp Uncertain significance Single submitter
- SQOR p.Gly384Ser Uncertain significance Single submitter
- SQOR p.Gly51Glu Uncertain significance Single submitter
- SQOR p.Gly55Val Uncertain significance Single submitter
- SQOR p.His325Gln Uncertain significance Single submitter
- SQOR p.His446Gln Uncertain significance Single submitter
- SQOR p.Ile136Val Uncertain significance Single submitter
- SQOR p.Ile191Val Uncertain significance Single submitter
- SQOR p.Ile85Val Uncertain significance Single submitter
- SQOR p.Leu20Arg Uncertain significance Single submitter
- SQOR p.Leu292Phe Uncertain significance Single submitter
- SQOR p.Leu356Arg Uncertain significance Single submitter
- SQOR p.Leu400Val Uncertain significance Single submitter
- SQOR p.Leu425Pro Uncertain significance Single submitter
- SQOR p.Lys200Asn Uncertain significance Single submitter
- SQOR p.Pro102Ser Uncertain significance Single submitter
- SQOR p.Pro123Arg Uncertain significance Single submitter
- SQOR p.Pro123Ser Uncertain significance Single submitter
- SQOR p.Pro380Ser Uncertain significance Single submitter
- SQOR p.Pro404Ser Uncertain significance Single submitter
- SQOR p.Pro423Ala Uncertain significance Single submitter
- SQOR p.Ser105Asn Uncertain significance Single submitter
- SQOR p.Ser168Trp Uncertain significance Single submitter
- SQOR p.Thr342Met Uncertain significance Single submitter
- SQOR p.Thr87Pro Uncertain significance Single submitter
- SQOR p.Val257Ile Uncertain significance Single submitter
- SQOR p.Val274Ile Uncertain significance Single submitter
- SQOR p.Val303Ile Uncertain significance Single submitter
- SQOR p.Val48Met Uncertain significance Single submitter
- SQOR p.Val74Ala Uncertain significance Single submitter
Predictors split 15
The independent predictors disagree with each other — read with care.
-
SQOR p.Arg61His
Uncertain significance
Multiple submitters
sulfide quinone oxidoreductase deficiency
- SQOR p.Ala144Thr Uncertain significance Single submitter
- SQOR p.Ala72Val Uncertain significance Single submitter
- SQOR p.Arg101Cys Uncertain significance Single submitter
- SQOR p.Arg101His Uncertain significance Single submitter
- SQOR p.Asn189Lys Uncertain significance Single submitter
- SQOR p.Asp244His Uncertain significance Single submitter
- SQOR p.Asp269Asn Uncertain significance Single submitter
- SQOR p.Asp269Tyr Uncertain significance Single submitter
- SQOR p.Asp279Gly Uncertain significance Single submitter
- SQOR p.Leu96Ser Uncertain significance Single submitter
- SQOR p.Met422Val Uncertain significance Single submitter
- SQOR p.Met62Val Uncertain significance Single submitter
- SQOR p.Phe81Leu Uncertain significance Single submitter
-
SQOR p.Glu213Lys
Pathogenic
No assertion criteria
sulfide quinone oxidoreductase deficiency
All SQOR variants
Pathogenic 2
- p.Glu213Lys No assertion criteria sulfide quinone oxidoreductase deficiency ⚠
- p.Leu149fs No assertion criteria sulfide quinone oxidoreductase deficiency
Likely benign 6
- c.405+11A>G Single submitter
- c.405+19A>G Single submitter
- p.Pro300Ser Single submitter
- p.Thr103Met Single submitter
- p.Val318Met No assertion criteria SQOR-related disorder
- p.Val7= No assertion criteria SQOR-related disorder
Uncertain significance 57
- p.Arg61His Multiple submitters sulfide quinone oxidoreductase deficiency ⚠
- p.Ala144Thr Single submitter ⚠
- p.Ala162Thr Single submitter ⚠
- p.Ala17Asp Single submitter ⚠
- p.Ala346Val Single submitter ⚠
- p.Ala39Val Single submitter ⚠
- p.Ala72Val Single submitter ⚠
- p.Arg101Cys Single submitter ⚠
- p.Arg101His Single submitter ⚠
- p.Arg12Cys Single submitter ⚠
- p.Arg61Cys Single submitter
- p.Arg79Lys Single submitter ⚠
- p.Asn189Lys Single submitter ⚠
- p.Asn339His Single submitter
- p.Asn386Ser Single submitter ⚠
- p.Asp133Asn Single submitter ⚠
- p.Asp244His Single submitter ⚠
- p.Asp269Asn Single submitter ⚠
- p.Asp269Tyr Single submitter ⚠
- p.Asp279Gly Single submitter ⚠
- p.Asp302His Single submitter ⚠
- p.Gly238Arg Single submitter ⚠
- p.Gly28Asp Single submitter ⚠
- p.Gly384Ser Single submitter ⚠
- p.Gly51Glu Single submitter ⚠
- p.Gly55Val Single submitter ⚠
- p.His325Gln Single submitter ⚠
- p.His446Gln Single submitter ⚠
- p.Ile136Val Single submitter ⚠
- p.Ile191Val Single submitter ⚠
- p.Ile85Val Single submitter ⚠
- p.Leu20Arg Single submitter ⚠
- p.Leu292Phe Single submitter ⚠
- p.Leu356Arg Single submitter ⚠
- p.Leu400Val Single submitter ⚠
- p.Leu425Pro Single submitter ⚠
- p.Leu96Ser Single submitter ⚠
- p.Lys200Asn Single submitter ⚠
- p.Met209Thr Single submitter
- p.Met422Val Single submitter ⚠
- p.Met62Val Single submitter ⚠
- p.Phe81Leu Single submitter ⚠
- p.Pro102Ser Single submitter ⚠
- p.Pro123Arg Single submitter ⚠
- p.Pro123Ser Single submitter ⚠
- p.Pro380Ser Single submitter ⚠
- p.Pro404Ser Single submitter ⚠
- p.Pro423Ala Single submitter ⚠
- p.Ser105Asn Single submitter ⚠
- p.Ser168Trp Single submitter ⚠
- p.Thr342Met Single submitter ⚠
- p.Thr87Pro Single submitter ⚠
- p.Val257Ile Single submitter ⚠
- p.Val274Ile Single submitter ⚠
- p.Val303Ile Single submitter ⚠
- p.Val48Met Single submitter ⚠
- p.Val74Ala Single submitter ⚠