DUXA — 30 ClinVar variants
All ClinVar germline DUXA variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 26 flagged for review →
1 Benign · 3 Likely benign · 26 Uncertain significance
Full DUXA gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 26
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 19
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- DUXA p.Ala166Val Uncertain significance Single submitter
- DUXA p.Ala68Pro Uncertain significance Single submitter
- DUXA p.Arg105Cys Uncertain significance Single submitter
- DUXA p.Arg16Thr Uncertain significance Single submitter
- DUXA p.Arg67Ser Uncertain significance Single submitter
- DUXA p.Asp195Asn Uncertain significance Single submitter
- DUXA p.Asp4Val Uncertain significance Single submitter
- DUXA p.Gln187Glu Uncertain significance Single submitter
- DUXA p.Gln60Pro Uncertain significance Single submitter
- DUXA p.Gln73Lys Uncertain significance Single submitter
- DUXA p.Gly200Glu Uncertain significance Single submitter
- DUXA p.Ile117Val Uncertain significance Single submitter
- DUXA p.Lys47Gln Uncertain significance Single submitter
- DUXA p.Phe63Ile Uncertain significance Single submitter
- DUXA p.Ser196Pro Uncertain significance Single submitter
- DUXA p.Thr106Ile Uncertain significance Single submitter
- DUXA p.Thr115Pro Uncertain significance Single submitter
- DUXA p.Thr44Ile Uncertain significance Single submitter
- DUXA p.Tyr108Phe Uncertain significance Single submitter
Predictors split 7
The independent predictors disagree with each other — read with care.
- DUXA p.Arg103Gln Uncertain significance Single submitter
- DUXA p.Arg103Trp Uncertain significance Single submitter
- DUXA p.Arg17Cys Uncertain significance Single submitter
- DUXA p.Arg19His Uncertain significance Single submitter
- DUXA p.Gln26Glu Uncertain significance Single submitter
- DUXA p.Gly139Ser Uncertain significance Single submitter
- DUXA p.Lys122Thr Uncertain significance Single submitter
All DUXA variants
Benign 1
- p.Phe192fs Single submitter
Likely benign 3
- p.Ala110Thr Single submitter
- p.Gly71Arg Single submitter
- p.Tyr6Ser Single submitter
Uncertain significance 26
- p.Ala166Val Single submitter ⚠
- p.Ala68Pro Single submitter ⚠
- p.Arg103Gln Single submitter ⚠
- p.Arg103Trp Single submitter ⚠
- p.Arg105Cys Single submitter ⚠
- p.Arg16Thr Single submitter ⚠
- p.Arg17Cys Single submitter ⚠
- p.Arg19His Single submitter ⚠
- p.Arg67Ser Single submitter ⚠
- p.Asp195Asn Single submitter ⚠
- p.Asp4Val Single submitter ⚠
- p.Gln187Glu Single submitter ⚠
- p.Gln26Glu Single submitter ⚠
- p.Gln60Pro Single submitter ⚠
- p.Gln73Lys Single submitter ⚠
- p.Gly139Ser Single submitter ⚠
- p.Gly200Glu Single submitter ⚠
- p.Ile117Val Single submitter ⚠
- p.Lys122Thr Single submitter ⚠
- p.Lys47Gln Single submitter ⚠
- p.Phe63Ile Single submitter ⚠
- p.Ser196Pro Single submitter ⚠
- p.Thr106Ile Single submitter ⚠
- p.Thr115Pro Single submitter ⚠
- p.Thr44Ile Single submitter ⚠
- p.Tyr108Phe Single submitter ⚠