DDX4 — 79 ClinVar variants
All ClinVar germline DDX4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 74 flagged for review →
3 Benign · 3 Likely benign · 73 Uncertain significance
Full DDX4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 74
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 38
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- DDX4 p.Ala304Val Uncertain significance Single submitter
- DDX4 p.Arg111Lys Uncertain significance Single submitter
- DDX4 p.Arg123Trp Uncertain significance Single submitter
- DDX4 p.Arg125Ser Uncertain significance Single submitter
- DDX4 p.Arg450Cys Uncertain significance Single submitter
- DDX4 p.Arg536Gln Uncertain significance Single submitter
- DDX4 p.Arg577Ser Uncertain significance Single submitter
- DDX4 p.Arg63Gly Uncertain significance Single submitter
- DDX4 p.Arg698Ile Uncertain significance Single submitter
- DDX4 p.Asn194His Uncertain significance Single submitter
- DDX4 p.Asn30Ser Uncertain significance Single submitter
- DDX4 p.Asp238Gly Uncertain significance Single submitter
- DDX4 p.Asp353Glu Uncertain significance Single submitter
- DDX4 p.Asp428Asn Uncertain significance Single submitter
- DDX4 p.Asp453Gly Uncertain significance Single submitter
- DDX4 p.Cys174Arg Uncertain significance Single submitter
- DDX4 p.Cys174Tyr Uncertain significance Single submitter
- DDX4 p.Gln489His Uncertain significance Single submitter
- DDX4 p.Glu173Lys Uncertain significance Single submitter
- DDX4 p.Gly193Val Uncertain significance Single submitter
- DDX4 p.Gly431Ala Uncertain significance Single submitter
- DDX4 p.Gly431Asp Uncertain significance Single submitter
- DDX4 p.Gly86Arg Uncertain significance Single submitter
- DDX4 p.His281Arg Uncertain significance Single submitter
- DDX4 p.Ile641Val Uncertain significance Single submitter
- DDX4 p.Lys228Glu Uncertain significance Single submitter
- DDX4 p.Met427Ile Uncertain significance Single submitter
- DDX4 p.Phe96Val Uncertain significance Single submitter
- DDX4 p.Pro121Thr Uncertain significance Single submitter
- DDX4 p.Pro717Leu Uncertain significance Single submitter
- DDX4 p.Ser206Asn Uncertain significance Single submitter
- DDX4 p.Ser236Asn Uncertain significance Single submitter
- DDX4 p.Thr122Ala Uncertain significance Single submitter
- DDX4 p.Thr631Ser Uncertain significance Single submitter
- DDX4 p.Thr697Asn Uncertain significance Single submitter
- DDX4 p.Tyr145Cys Uncertain significance Single submitter
- DDX4 p.Val378Ala Uncertain significance Single submitter
- DDX4 p.Val691Met Uncertain significance Single submitter
Predictors split 36
The independent predictors disagree with each other — read with care.
- DDX4 p.Lys472Glu Benign Multiple submitters
- DDX4 p.Ala385Val Uncertain significance Single submitter
- DDX4 p.Ala493Val Uncertain significance Single submitter
-
DDX4 p.Ala511Val
Uncertain significance
Single submitter
male infertility
- DDX4 p.Arg154Gln Uncertain significance Single submitter
- DDX4 p.Arg157Cys Uncertain significance Single submitter
- DDX4 p.Arg177Cys Uncertain significance Single submitter
- DDX4 p.Arg326Gln Uncertain significance Single submitter
- DDX4 p.Arg359His Uncertain significance Single submitter
- DDX4 p.Arg63Gln Uncertain significance Single submitter
- DDX4 p.Asn115Tyr Uncertain significance Single submitter
- DDX4 p.Asn294Asp Uncertain significance Single submitter
- DDX4 p.Asn300His Uncertain significance Single submitter
- DDX4 p.Asn417Asp Uncertain significance Single submitter
- DDX4 p.Asp272Asn Uncertain significance Single submitter
- DDX4 p.Asp353Val Uncertain significance Single submitter
- DDX4 p.Asp719Asn Uncertain significance Single submitter
- DDX4 p.Cys393Trp Uncertain significance Single submitter
- DDX4 p.Glu118Lys Uncertain significance Single submitter
- DDX4 p.Glu140Lys Uncertain significance Single submitter
- DDX4 p.Gly163Glu Uncertain significance Single submitter
- DDX4 p.Gly179Cys Uncertain significance Single submitter
- DDX4 p.His611Gln Uncertain significance Single submitter
- DDX4 p.Ile247Thr Uncertain significance Single submitter
- DDX4 p.Ile303Thr Uncertain significance Single submitter
- DDX4 p.Ile399Thr Uncertain significance Single submitter
- DDX4 p.Ile440Met Uncertain significance Single submitter
- DDX4 p.Ile674Ser Uncertain significance Single submitter
- DDX4 p.Leu363Ser Uncertain significance Single submitter
- DDX4 p.Ser222Cys Uncertain significance Single submitter
- DDX4 p.Ser711Pro Uncertain significance Single submitter
- DDX4 p.Ser712Leu Uncertain significance Single submitter
- DDX4 p.Tyr133Cys Uncertain significance Single submitter
- DDX4 p.Tyr17Cys Uncertain significance Single submitter
- DDX4 p.Val599Ile Uncertain significance Single submitter
- DDX4 p.Val667Ile Uncertain significance Single submitter
All DDX4 variants
Benign 3
- c.1172+9A>G Multiple submitters
- p.Ala448= Multiple submitters
- p.Lys472Glu Multiple submitters ⚠
Likely benign 3
- p.Ile680Val Single submitter
- p.Thr192Ala Single submitter
- p.Val519Ile Single submitter
Uncertain significance 73
- p.Ala304Val Single submitter ⚠
- p.Ala385Val Single submitter ⚠
- p.Ala493Val Single submitter ⚠
- p.Ala511Val Single submitter male infertility ⚠
- p.Arg111Lys Single submitter ⚠
- p.Arg123Trp Single submitter ⚠
- p.Arg125Ser Single submitter ⚠
- p.Arg154Gln Single submitter ⚠
- p.Arg157Cys Single submitter ⚠
- p.Arg177Cys Single submitter ⚠
- p.Arg326Gln Single submitter ⚠
- p.Arg359His Single submitter ⚠
- p.Arg450Cys Single submitter ⚠
- p.Arg536Gln Single submitter ⚠
- p.Arg577Ser Single submitter ⚠
- p.Arg63Gln Single submitter ⚠
- p.Arg63Gly Single submitter ⚠
- p.Arg698Ile Single submitter ⚠
- p.Asn115Tyr Single submitter ⚠
- p.Asn194His Single submitter ⚠
- p.Asn294Asp Single submitter ⚠
- p.Asn300His Single submitter ⚠
- p.Asn30Ser Single submitter ⚠
- p.Asn417Asp Single submitter ⚠
- p.Asp238Gly Single submitter ⚠
- p.Asp272Asn Single submitter ⚠
- p.Asp353Glu Single submitter ⚠
- p.Asp353Val Single submitter ⚠
- p.Asp428Asn Single submitter ⚠
- p.Asp453Gly Single submitter ⚠
- p.Asp719Asn Single submitter ⚠
- p.Cys174Arg Single submitter ⚠
- p.Cys174Tyr Single submitter ⚠
- p.Cys393Trp Single submitter ⚠
- p.Gln489His Single submitter ⚠
- p.Glu118Lys Single submitter ⚠
- p.Glu140Lys Single submitter ⚠
- p.Glu173Lys Single submitter ⚠
- p.Gly163Glu Single submitter ⚠
- p.Gly179Cys Single submitter ⚠
- p.Gly193Val Single submitter ⚠
- p.Gly431Ala Single submitter ⚠
- p.Gly431Asp Single submitter ⚠
- p.Gly86Arg Single submitter ⚠
- p.His281Arg Single submitter ⚠
- p.His611Gln Single submitter ⚠
- p.Ile247Thr Single submitter ⚠
- p.Ile303Thr Single submitter ⚠
- p.Ile399Thr Single submitter ⚠
- p.Ile440Met Single submitter ⚠
- p.Ile641Val Single submitter ⚠
- p.Ile674Ser Single submitter ⚠
- p.Leu363Ser Single submitter ⚠
- p.Lys228Glu Single submitter ⚠
- p.Met427Ile Single submitter ⚠
- p.Phe96Val Single submitter ⚠
- p.Pro121Thr Single submitter ⚠
- p.Pro717Leu Single submitter ⚠
- p.Ser206Asn Single submitter ⚠
- p.Ser222Cys Single submitter ⚠
- p.Ser236Asn Single submitter ⚠
- p.Ser711Pro Single submitter ⚠
- p.Ser712Leu Single submitter ⚠
- p.Thr122Ala Single submitter ⚠
- p.Thr631Ser Single submitter ⚠
- p.Thr697Asn Single submitter ⚠
- p.Tyr133Cys Single submitter ⚠
- p.Tyr145Cys Single submitter ⚠
- p.Tyr17Cys Single submitter ⚠
- p.Val378Ala Single submitter ⚠
- p.Val599Ile Single submitter ⚠
- p.Val667Ile Single submitter ⚠
- p.Val691Met Single submitter ⚠