QSOX1 — 150 ClinVar variants

All ClinVar germline QSOX1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 125 flagged for review →

7 Benign · 10 Likely benign · 133 Uncertain significance

Full QSOX1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 125

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 109

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 16

The independent predictors disagree with each other — read with care.

All QSOX1 variants

Benign 7

c.1017+6C>A Multiple submitters
p.Arg605Pro Multiple submitters
p.Arg673= Multiple submitters
p.Asn114Ser Multiple submitters
p.Pro398= Multiple submitters
c.1469-10C>T Single submitter
p.Pro597Leu Single submitter

Likely benign 10

c.516-7C>T Single submitter
p.Ala565Val Single submitter
p.Arg689Gln Single submitter
p.Asp377Asn Single submitter
p.Gln633Arg Single submitter
p.Glu620Gly Single submitter
p.Ile735Met Single submitter
p.Leu407= Single submitter
p.Phe127= Single submitter
p.Tyr442= Single submitter

Uncertain significance 133

p.Ala108Val Single submitter ⚠
p.Ala23Thr Single submitter ⚠
p.Ala23Val Single submitter ⚠
p.Ala273Ser Single submitter ⚠
p.Ala279Gly Single submitter ⚠
p.Ala287Val Single submitter ⚠
p.Ala335Ser Single submitter ⚠
p.Ala432Val Single submitter ⚠
p.Ala473Ser Single submitter ⚠
p.Ala473Thr Single submitter ⚠
p.Ala559Val Single submitter ⚠
p.Ala561Val Single submitter ⚠
p.Ala615Val Single submitter ⚠
p.Ala649Ser Single submitter ⚠
p.Ala84Asp Single submitter ⚠
p.Ala98Thr Single submitter ⚠
p.Arg216His Single submitter ⚠
p.Arg217Thr Single submitter ⚠
p.Arg242Trp Single submitter ⚠
p.Arg296Cys Single submitter ⚠
p.Arg2Trp Single submitter ⚠
p.Arg32Trp Single submitter ⚠
p.Arg3Lys Single submitter ⚠
p.Arg450Gln Single submitter ⚠
p.Arg466Gln Single submitter ⚠
p.Arg466Trp Single submitter ⚠
p.Arg506Cys Single submitter ⚠
p.Arg506His Single submitter ⚠
p.Arg506Leu Single submitter ⚠
p.Arg516Cys Single submitter ⚠
p.Arg552Gln Single submitter ⚠
p.Arg574Trp Single submitter ⚠
p.Arg605Gly Single submitter ⚠
p.Arg645Gln Single submitter ⚠
p.Arg661His Single submitter ⚠
p.Arg670His Single submitter ⚠
p.Arg673His Single submitter ⚠
p.Arg692Trp Single submitter ⚠
p.Arg694Gln Single submitter ⚠
p.Arg736Ser Single submitter ⚠
p.Asn183Ser Single submitter ⚠
p.Asn224Ser Single submitter ⚠
p.Asn364Asp Single submitter ⚠
p.Asn514Ser Single submitter ⚠
p.Asp377Gly Single submitter ⚠
p.Asp40Tyr Single submitter
p.Asp424Asn Single submitter ⚠
p.Asp579Glu Single submitter ⚠
p.Asp680Asn Single submitter ⚠
p.Asp680Gly Single submitter ⚠
p.Asp86Asn Single submitter
p.Gln348Lys Single submitter ⚠
p.Gln421Pro Single submitter ⚠
p.Gln629Arg Single submitter ⚠
p.Glu104Asp Single submitter ⚠
p.Glu104Lys Single submitter ⚠
p.Glu570Val Single submitter ⚠
p.Glu584Lys Single submitter ⚠
p.Glu632Asp Single submitter ⚠
p.Gly131Ser Single submitter ⚠
p.Gly140Asp Single submitter ⚠
p.Gly244Asp Single submitter ⚠
p.Gly26Val Single submitter ⚠
p.Gly448Ser Single submitter ⚠
p.Gly648Glu Single submitter ⚠
p.Gly672Asp Single submitter ⚠
p.Gly9Arg Single submitter ⚠
p.His158Arg Single submitter ⚠
p.His352Tyr Single submitter ⚠
p.His425Arg Single submitter ⚠
p.His624Arg Single submitter ⚠
p.His741Arg Single submitter ⚠
p.Ile366Val Single submitter ⚠
p.Ile439Met Single submitter ⚠
p.Ile540Asn Single submitter ⚠
p.Leu205Val Single submitter ⚠
p.Leu351Pro Single submitter ⚠
p.Leu528Phe Single submitter ⚠
p.Leu738Val Single submitter ⚠
p.Lys194Thr Single submitter ⚠
p.Lys644Glu Single submitter ⚠
p.Met459Ile Single submitter ⚠
p.Met625Ile Single submitter ⚠
p.Met722Leu Single submitter ⚠
p.Phe113Leu Single submitter ⚠
p.Phe258Leu Single submitter ⚠
p.Phe530Cys Single submitter ⚠
p.Phe705Leu Single submitter ⚠
p.Phe721Ser Single submitter ⚠
p.Pro10Arg Single submitter ⚠
p.Pro10Leu Single submitter ⚠
p.Pro11Ser Single submitter ⚠
p.Pro12Leu Single submitter ⚠
p.Pro167Leu Single submitter ⚠
p.Pro167Ser Single submitter ⚠
p.Pro31Ser Single submitter ⚠
p.Pro320Leu Single submitter ⚠
p.Pro41Thr Single submitter ⚠
p.Pro537Leu Single submitter ⚠
p.Pro545Ala Single submitter ⚠
p.Pro580Ser Single submitter ⚠
p.Pro583Thr Single submitter ⚠
p.Pro589Ala Single submitter ⚠
p.Pro589Leu Single submitter ⚠
p.Pro594Arg Single submitter ⚠
p.Pro594Gln Single submitter ⚠
p.Pro607Arg Single submitter ⚠
p.Pro636Leu Single submitter ⚠
p.Ser197Phe Single submitter
p.Ser257Phe Single submitter ⚠
p.Ser510Pro Single submitter ⚠
p.Ser674Arg Single submitter ⚠
p.Ser6Gly Single submitter ⚠
p.Ser6Ile Single submitter ⚠
p.Ser720Tyr Single submitter
p.Thr120Ile Single submitter ⚠
p.Thr160Met Single submitter ⚠
p.Thr232Ser Single submitter ⚠
p.Thr527Ala Single submitter ⚠
p.Thr577Ala Single submitter ⚠
p.Trp357Cys Single submitter ⚠
p.Tyr238His Single submitter
p.Tyr259Cys Single submitter
p.Tyr310His Single submitter ⚠
p.Tyr340His Single submitter ⚠
p.Tyr95Cys Single submitter ⚠
p.Val388Met Single submitter ⚠
p.Val467Glu Single submitter
p.Val467Met Single submitter
p.Val521Met Single submitter ⚠
p.Val555Met Single submitter ⚠
p.Val671Met Single submitter ⚠
p.Val714Ala Single submitter ⚠