DDX43 — 85 ClinVar variants
All ClinVar germline DDX43 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 73 flagged for review →
2 Benign · 5 Likely benign · 78 Uncertain significance
Full DDX43 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 73
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 61
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- DDX43 p.Ala165Glu Uncertain significance Single submitter
- DDX43 p.Ala165Gly Uncertain significance Single submitter
- DDX43 p.Ala260Ser Uncertain significance Single submitter
- DDX43 p.Ala626Glu Uncertain significance Single submitter
- DDX43 p.Ala73Val Uncertain significance Single submitter
- DDX43 p.Arg345Gln Uncertain significance Single submitter
- DDX43 p.Arg436Cys Uncertain significance Single submitter
- DDX43 p.Arg47Lys Uncertain significance Single submitter
- DDX43 p.Arg50Pro Uncertain significance Single submitter
- DDX43 p.Arg526Trp Uncertain significance Single submitter
- DDX43 p.Arg566Trp Uncertain significance Single submitter
- DDX43 p.Arg56Lys Uncertain significance Single submitter
- DDX43 p.Arg631Thr Uncertain significance Single submitter
- DDX43 p.Asn162Asp Uncertain significance Single submitter
- DDX43 p.Asn386Ser Uncertain significance Single submitter
- DDX43 p.Asp416Gly Uncertain significance Single submitter
- DDX43 p.Asp525Glu Uncertain significance Single submitter
- DDX43 p.Cys143Gly Uncertain significance Single submitter
- DDX43 p.Cys71Ser Uncertain significance Single submitter
- DDX43 p.Gln94Arg Uncertain significance Single submitter
- DDX43 p.Glu219Gln Uncertain significance Single submitter
- DDX43 p.Glu66Ala Uncertain significance Single submitter
- DDX43 p.Gly180Arg Uncertain significance Single submitter
- DDX43 p.Gly289Glu Uncertain significance Single submitter
- DDX43 p.Gly353Arg Uncertain significance Single submitter
- DDX43 p.Gly42Glu Uncertain significance Single submitter
- DDX43 p.Gly48Ala Uncertain significance Single submitter
- DDX43 p.Gly48Ser Uncertain significance Single submitter
- DDX43 p.Gly49Ala Uncertain significance Single submitter
- DDX43 p.Gly550Arg Uncertain significance Single submitter
- DDX43 p.His432Leu Uncertain significance Single submitter
- DDX43 p.His554Arg Uncertain significance Single submitter
- DDX43 p.Ile236Val Uncertain significance Single submitter
- DDX43 p.Ile268Val Uncertain significance Single submitter
- DDX43 p.Ile465Thr Uncertain significance Single submitter
- DDX43 p.Ile466Thr Uncertain significance Single submitter
- DDX43 p.Ile508Val Uncertain significance Single submitter
- DDX43 p.Leu310Pro Uncertain significance Single submitter
- DDX43 p.Leu541Gln Uncertain significance Single submitter
- DDX43 p.Lys646Asn Uncertain significance Single submitter
- DDX43 p.Met254Val Uncertain significance Single submitter
- DDX43 p.Met319Ile Uncertain significance Single submitter
- DDX43 p.Met319Thr Uncertain significance Single submitter
- DDX43 p.Met637Thr Uncertain significance Single submitter
- DDX43 p.Phe406Tyr Uncertain significance Single submitter
- DDX43 p.Phe78Val Uncertain significance Single submitter
- DDX43 p.Pro108Ala Uncertain significance Single submitter
- DDX43 p.Pro151Ser Uncertain significance Single submitter
- DDX43 p.Pro169Leu Uncertain significance Single submitter
- DDX43 p.Pro40Ser Uncertain significance Single submitter
- DDX43 p.Pro58Leu Uncertain significance Single submitter
- DDX43 p.Ser382Thr Uncertain significance Single submitter
- DDX43 p.Thr122Met Uncertain significance Single submitter
- DDX43 p.Thr469Ala Uncertain significance Single submitter
- DDX43 p.Tyr341Phe Uncertain significance Single submitter
- DDX43 p.Tyr449Cys Uncertain significance Single submitter
- DDX43 p.Tyr560Asn Uncertain significance Single submitter
- DDX43 p.Val132Leu Uncertain significance Single submitter
- DDX43 p.Val15Ala Uncertain significance Single submitter
- DDX43 p.Val211Ile Uncertain significance Single submitter
- DDX43 p.Val61Glu Uncertain significance Single submitter
Predictors split 12
The independent predictors disagree with each other — read with care.
- DDX43 p.Ala547Gly Uncertain significance Single submitter
- DDX43 p.Arg177Ser Uncertain significance Single submitter
- DDX43 p.Arg345Trp Uncertain significance Single submitter
- DDX43 p.Gln358Glu Uncertain significance Single submitter
- DDX43 p.Gly231Arg Uncertain significance Single submitter
- DDX43 p.Ile283Thr Uncertain significance Single submitter
- DDX43 p.Leu503Phe Uncertain significance Single submitter
- DDX43 p.Phe533Leu Uncertain significance Single submitter
- DDX43 p.Phe624Leu Uncertain significance Single submitter
- DDX43 p.Phe78Ser Uncertain significance Single submitter
- DDX43 p.Pro408Thr Uncertain significance Single submitter
- DDX43 p.Val494Ile Uncertain significance Single submitter
All DDX43 variants
Benign 2
- p.Asn92Lys Single submitter
- p.Gly6Glu Single submitter
Likely benign 5
- p.Gln105Lys Single submitter
- p.Glu616Asp Single submitter
- p.Lys113Arg Single submitter
- p.Lys528Arg Single submitter
- p.Phe221Tyr Single submitter
Uncertain significance 78
- c.650+1G>A Single submitter
- p.Ala165Glu Single submitter ⚠
- p.Ala165Gly Single submitter ⚠
- p.Ala260Ser Single submitter ⚠
- p.Ala547Gly Single submitter ⚠
- p.Ala626Glu Single submitter ⚠
- p.Ala73Val Single submitter ⚠
- p.Arg177Ser Single submitter ⚠
- p.Arg345Gln Single submitter ⚠
- p.Arg345Trp Single submitter ⚠
- p.Arg436Cys Single submitter ⚠
- p.Arg47Lys Single submitter ⚠
- p.Arg50Pro Single submitter ⚠
- p.Arg526Trp Single submitter ⚠
- p.Arg566Trp Single submitter ⚠
- p.Arg56Lys Single submitter ⚠
- p.Arg631Thr Single submitter ⚠
- p.Asn162Asp Single submitter ⚠
- p.Asn386Ser Single submitter ⚠
- p.Asp281Asn Single submitter
- p.Asp416Gly Single submitter ⚠
- p.Asp525Glu Single submitter ⚠
- p.Cys143Gly Single submitter ⚠
- p.Cys71Ser Single submitter ⚠
- p.Gln358Glu Single submitter ⚠
- p.Gln94Arg Single submitter ⚠
- p.Glu219Gln Single submitter ⚠
- p.Glu66Ala Single submitter ⚠
- p.Gly180Arg Single submitter ⚠
- p.Gly231Arg Single submitter ⚠
- p.Gly289Glu Single submitter ⚠
- p.Gly353Arg Single submitter ⚠
- p.Gly42Glu Single submitter ⚠
- p.Gly48Ala Single submitter ⚠
- p.Gly48Ser Single submitter ⚠
- p.Gly49Ala Single submitter ⚠
- p.Gly550Arg Single submitter ⚠
- p.His303Asn Single submitter
- p.His432Leu Single submitter ⚠
- p.His554Arg Single submitter ⚠
- p.Ile236Val Single submitter ⚠
- p.Ile268Val Single submitter ⚠
- p.Ile283Thr Single submitter ⚠
- p.Ile465Thr Single submitter ⚠
- p.Ile466Thr Single submitter ⚠
- p.Ile508Val Single submitter ⚠
- p.Leu310Pro Single submitter ⚠
- p.Leu503Phe Single submitter ⚠
- p.Leu541Gln Single submitter ⚠
- p.Lys646Asn Single submitter ⚠
- p.Met254Val Single submitter ⚠
- p.Met319Ile Single submitter ⚠
- p.Met319Thr Single submitter ⚠
- p.Met637Thr Single submitter ⚠
- p.Phe406Tyr Single submitter ⚠
- p.Phe533Leu Single submitter ⚠
- p.Phe624Leu Single submitter ⚠
- p.Phe78Ser Single submitter ⚠
- p.Phe78Val Single submitter ⚠
- p.Pro108Ala Single submitter ⚠
- p.Pro151Ser Single submitter ⚠
- p.Pro169Leu Single submitter ⚠
- p.Pro274Leu Single submitter
- p.Pro317Ser Single submitter
- p.Pro408Thr Single submitter ⚠
- p.Pro40Ser Single submitter ⚠
- p.Pro58Leu Single submitter ⚠
- p.Ser382Thr Single submitter ⚠
- p.Thr122Met Single submitter ⚠
- p.Thr469Ala Single submitter ⚠
- p.Tyr341Phe Single submitter ⚠
- p.Tyr449Cys Single submitter ⚠
- p.Tyr560Asn Single submitter ⚠
- p.Val132Leu Single submitter ⚠
- p.Val15Ala Single submitter ⚠
- p.Val211Ile Single submitter ⚠
- p.Val494Ile Single submitter ⚠
- p.Val61Glu Single submitter ⚠