DQX1 — 90 ClinVar variants
All ClinVar germline DQX1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 86 flagged for review →
4 Likely benign · 86 Uncertain significance
Full DQX1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 86
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 44
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- DQX1 p.Ala116Thr Uncertain significance Single submitter
- DQX1 p.Ala248Thr Uncertain significance Single submitter
- DQX1 p.Ala310Asp Uncertain significance Single submitter
- DQX1 p.Ala327Val Uncertain significance Single submitter
- DQX1 p.Ala707Gly Uncertain significance Single submitter
-
DQX1 p.Arg257Trp
Uncertain significance
Single submitter
arthrogryposis multiplex congenita
- DQX1 p.Arg347Gln Uncertain significance Single submitter
- DQX1 p.Arg42Cys Uncertain significance Single submitter
- DQX1 p.Arg42His Uncertain significance Single submitter
- DQX1 p.Arg588His Uncertain significance Single submitter
- DQX1 p.Asn689His Uncertain significance Single submitter
- DQX1 p.Asp148Asn Uncertain significance Single submitter
- DQX1 p.Asp328Glu Uncertain significance Single submitter
- DQX1 p.Asp712Val Uncertain significance Single submitter
- DQX1 p.Cys277Tyr Uncertain significance Single submitter
- DQX1 p.Cys367Tyr Uncertain significance Single submitter
- DQX1 p.Cys384Arg Uncertain significance Single submitter
- DQX1 p.Gln421Arg Uncertain significance Single submitter
- DQX1 p.Gln592Lys Uncertain significance Single submitter
- DQX1 p.Glu396Gln Uncertain significance Single submitter
- DQX1 p.Glu489Lys Uncertain significance Single submitter
- DQX1 p.Glu683Asp Uncertain significance Single submitter
- DQX1 p.Gly502Val Uncertain significance Single submitter
- DQX1 p.His620Pro Uncertain significance Single submitter
- DQX1 p.Ile537Met Uncertain significance Single submitter
- DQX1 p.Ile658Val Uncertain significance Single submitter
- DQX1 p.Leu121Gln Uncertain significance Single submitter
- DQX1 p.Leu198Val Uncertain significance Single submitter
- DQX1 p.Leu212Phe Uncertain significance Single submitter
- DQX1 p.Leu326Met Uncertain significance Single submitter
- DQX1 p.Leu58Ser Uncertain significance Single submitter
- DQX1 p.Lys476Glu Uncertain significance Single submitter
- DQX1 p.Met440Thr Uncertain significance Single submitter
- DQX1 p.Phe331Ser Uncertain significance Single submitter
- DQX1 p.Pro105Arg Uncertain significance Single submitter
- DQX1 p.Pro195Leu Uncertain significance Single submitter
- DQX1 p.Pro234Ala Uncertain significance Single submitter
- DQX1 p.Pro72Ser Uncertain significance Single submitter
- DQX1 p.Ser677Asn Uncertain significance Single submitter
- DQX1 p.Ser704Pro Uncertain significance Single submitter
- DQX1 p.Ser706Leu Uncertain significance Single submitter
- DQX1 p.Thr323Pro Uncertain significance Single submitter
- DQX1 p.Trp325Arg Uncertain significance Single submitter
- DQX1 p.Val200Glu Uncertain significance Single submitter
Predictors split 42
The independent predictors disagree with each other — read with care.
- DQX1 p.Ala251Thr Uncertain significance Single submitter
- DQX1 p.Ala477Val Uncertain significance Single submitter
- DQX1 p.Ala555Thr Uncertain significance Single submitter
- DQX1 p.Arg175Trp Uncertain significance Single submitter
- DQX1 p.Arg34His Uncertain significance Single submitter
- DQX1 p.Arg505Cys Uncertain significance Single submitter
- DQX1 p.Arg516Cys Uncertain significance Single submitter
- DQX1 p.Arg549Pro Uncertain significance Single submitter
- DQX1 p.Arg563Trp Uncertain significance Single submitter
- DQX1 p.Arg572Gln Uncertain significance Single submitter
- DQX1 p.Arg633His Uncertain significance Single submitter
- DQX1 p.Asn654Asp Uncertain significance Single submitter
- DQX1 p.Asp525Glu Uncertain significance Single submitter
- DQX1 p.Cys256Arg Uncertain significance Single submitter
- DQX1 p.Cys406Ser Uncertain significance Single submitter
- DQX1 p.Cys628Phe Uncertain significance Single submitter
- DQX1 p.Glu483Lys Uncertain significance Single submitter
- DQX1 p.Gly28Arg Uncertain significance Single submitter
- DQX1 p.Gly64Arg Uncertain significance Single submitter
- DQX1 p.Gly64Glu Uncertain significance Single submitter
- DQX1 p.Ile464Thr Uncertain significance Single submitter
- DQX1 p.Leu562Arg Uncertain significance Single submitter
- DQX1 p.Leu575Ile Uncertain significance Single submitter
- DQX1 p.Leu614Arg Uncertain significance Single submitter
- DQX1 p.Leu624Phe Uncertain significance Single submitter
- DQX1 p.Leu676Pro Uncertain significance Single submitter
- DQX1 p.Pro46Ser Uncertain significance Single submitter
- DQX1 p.Pro501Ala Uncertain significance Single submitter
- DQX1 p.Pro681Arg Uncertain significance Single submitter
- DQX1 p.Ser176Leu Uncertain significance Single submitter
- DQX1 p.Ser287Phe Uncertain significance Single submitter
- DQX1 p.Ser391Pro Uncertain significance Single submitter
- DQX1 p.Ser527Arg Uncertain significance Single submitter
- DQX1 p.Ser578Pro Uncertain significance Single submitter
- DQX1 p.Ser705Phe Uncertain significance Single submitter
- DQX1 p.Thr158Ile Uncertain significance Single submitter
- DQX1 p.Val166Met Uncertain significance Single submitter
- DQX1 p.Val222Met Uncertain significance Single submitter
- DQX1 p.Val320Phe Uncertain significance Single submitter
- DQX1 p.Val322Ile Uncertain significance Single submitter
- DQX1 p.Val659Ile Uncertain significance Single submitter
- DQX1 p.Val65Met Uncertain significance Single submitter
All DQX1 variants
Likely benign 4
- p.Arg213Gln Single submitter
- p.Arg257Gln Single submitter
- p.Arg306Gln Single submitter
- p.Met315Thr Single submitter
Uncertain significance 86
- p.Ala116Thr Single submitter ⚠
- p.Ala248Thr Single submitter ⚠
- p.Ala251Thr Single submitter ⚠
- p.Ala310Asp Single submitter ⚠
- p.Ala327Val Single submitter ⚠
- p.Ala477Val Single submitter ⚠
- p.Ala555Thr Single submitter ⚠
- p.Ala707Gly Single submitter ⚠
- p.Arg175Trp Single submitter ⚠
- p.Arg257Trp Single submitter arthrogryposis multiplex congenita ⚠
- p.Arg347Gln Single submitter ⚠
- p.Arg34His Single submitter ⚠
- p.Arg42Cys Single submitter ⚠
- p.Arg42His Single submitter ⚠
- p.Arg505Cys Single submitter ⚠
- p.Arg516Cys Single submitter ⚠
- p.Arg549Pro Single submitter ⚠
- p.Arg563Trp Single submitter ⚠
- p.Arg572Gln Single submitter ⚠
- p.Arg588His Single submitter ⚠
- p.Arg633His Single submitter ⚠
- p.Asn654Asp Single submitter ⚠
- p.Asn689His Single submitter ⚠
- p.Asp148Asn Single submitter ⚠
- p.Asp328Glu Single submitter ⚠
- p.Asp525Glu Single submitter ⚠
- p.Asp712Val Single submitter ⚠
- p.Cys256Arg Single submitter ⚠
- p.Cys277Tyr Single submitter ⚠
- p.Cys367Tyr Single submitter ⚠
- p.Cys384Arg Single submitter ⚠
- p.Cys406Ser Single submitter ⚠
- p.Cys628Phe Single submitter ⚠
- p.Gln421Arg Single submitter ⚠
- p.Gln592Lys Single submitter ⚠
- p.Glu396Gln Single submitter ⚠
- p.Glu483Lys Single submitter ⚠
- p.Glu489Lys Single submitter ⚠
- p.Glu683Asp Single submitter ⚠
- p.Gly28Arg Single submitter ⚠
- p.Gly502Val Single submitter ⚠
- p.Gly64Arg Single submitter ⚠
- p.Gly64Glu Single submitter ⚠
- p.His620Pro Single submitter ⚠
- p.Ile464Thr Single submitter ⚠
- p.Ile537Met Single submitter ⚠
- p.Ile658Val Single submitter ⚠
- p.Leu121Gln Single submitter ⚠
- p.Leu198Val Single submitter ⚠
- p.Leu212Phe Single submitter ⚠
- p.Leu326Met Single submitter ⚠
- p.Leu562Arg Single submitter ⚠
- p.Leu575Ile Single submitter ⚠
- p.Leu58Ser Single submitter ⚠
- p.Leu614Arg Single submitter ⚠
- p.Leu624Phe Single submitter ⚠
- p.Leu676Pro Single submitter ⚠
- p.Lys476Glu Single submitter ⚠
- p.Met440Thr Single submitter ⚠
- p.Phe331Ser Single submitter ⚠
- p.Pro105Arg Single submitter ⚠
- p.Pro195Leu Single submitter ⚠
- p.Pro234Ala Single submitter ⚠
- p.Pro46Ser Single submitter ⚠
- p.Pro501Ala Single submitter ⚠
- p.Pro681Arg Single submitter ⚠
- p.Pro72Ser Single submitter ⚠
- p.Ser176Leu Single submitter ⚠
- p.Ser287Phe Single submitter ⚠
- p.Ser391Pro Single submitter ⚠
- p.Ser527Arg Single submitter ⚠
- p.Ser578Pro Single submitter ⚠
- p.Ser677Asn Single submitter ⚠
- p.Ser704Pro Single submitter ⚠
- p.Ser705Phe Single submitter ⚠
- p.Ser706Leu Single submitter ⚠
- p.Thr158Ile Single submitter ⚠
- p.Thr323Pro Single submitter ⚠
- p.Trp325Arg Single submitter ⚠
- p.Val166Met Single submitter ⚠
- p.Val200Glu Single submitter ⚠
- p.Val222Met Single submitter ⚠
- p.Val320Phe Single submitter ⚠
- p.Val322Ile Single submitter ⚠
- p.Val659Ile Single submitter ⚠
- p.Val65Met Single submitter ⚠