DDX49 — 67 ClinVar variants
All ClinVar germline DDX49 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 59 flagged for review →
3 Likely benign · 64 Uncertain significance
Full DDX49 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 59
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 49
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- DDX49 p.Ala132Val Uncertain significance Single submitter
- DDX49 p.Ala154Val Uncertain significance Single submitter
- DDX49 p.Ala174Glu Uncertain significance Single submitter
- DDX49 p.Ala233Pro Uncertain significance Single submitter
- DDX49 p.Ala290Thr Uncertain significance Single submitter
- DDX49 p.Ala35Pro Uncertain significance Single submitter
- DDX49 p.Ala379Val Uncertain significance Single submitter
- DDX49 p.Ala401Val Uncertain significance Single submitter
- DDX49 p.Ala5Gly Uncertain significance Single submitter
- DDX49 p.Arg179Cys Uncertain significance Single submitter
- DDX49 p.Arg222Cys Uncertain significance Single submitter
- DDX49 p.Arg241His Uncertain significance Single submitter
- DDX49 p.Arg287Cys Uncertain significance Single submitter
- DDX49 p.Arg300Gln Uncertain significance Single submitter
- DDX49 p.Arg344Gln Uncertain significance Single submitter
- DDX49 p.Arg429His Uncertain significance Single submitter
- DDX49 p.Arg453Gln Uncertain significance Single submitter
- DDX49 p.Arg458Trp Uncertain significance Single submitter
- DDX49 p.Arg91Gln Uncertain significance Single submitter
- DDX49 p.Arg91Pro Uncertain significance Single submitter
- DDX49 p.Asp133Asn Uncertain significance Single submitter
- DDX49 p.Cys102Phe Uncertain significance Single submitter
- DDX49 p.Gln218Leu Uncertain significance Single submitter
- DDX49 p.Gln366His Uncertain significance Single submitter
- DDX49 p.Glu116Asp Uncertain significance Single submitter
- DDX49 p.Glu247Lys Uncertain significance Single submitter
- DDX49 p.Gly457Asp Uncertain significance Single submitter
- DDX49 p.Gly460Asp Uncertain significance Single submitter
- DDX49 p.His473Tyr Uncertain significance Single submitter
- DDX49 p.Ile143Met Uncertain significance Single submitter
- DDX49 p.Ile172Val Uncertain significance Single submitter
- DDX49 p.Ile298Leu Uncertain significance Single submitter
- DDX49 p.Ile36Val Uncertain significance Single submitter
- DDX49 p.Leu328Val Uncertain significance Single submitter
- DDX49 p.Leu61Ser Uncertain significance Single submitter
- DDX49 p.Lys370Gln Uncertain significance Single submitter
- DDX49 p.Met281Val Uncertain significance Single submitter
- DDX49 p.Pro128Leu Uncertain significance Single submitter
- DDX49 p.Pro177Arg Uncertain significance Single submitter
- DDX49 p.Pro212Ser Uncertain significance Single submitter
- DDX49 p.Pro469Leu Uncertain significance Single submitter
- DDX49 p.Ser118Ala Uncertain significance Single submitter
- DDX49 p.Ser272Thr Uncertain significance Single submitter
- DDX49 p.Thr275Ala Uncertain significance Single submitter
- DDX49 p.Tyr299Ser Uncertain significance Single submitter
- DDX49 p.Val167Met Uncertain significance Single submitter
- DDX49 p.Val213Leu Uncertain significance Single submitter
- DDX49 p.Val216Met Uncertain significance Single submitter
- DDX49 p.Val276Met Uncertain significance Single submitter
Predictors split 10
The independent predictors disagree with each other — read with care.
- DDX49 p.Ala174Val Uncertain significance Single submitter
- DDX49 p.Arg147Cys Uncertain significance Single submitter
- DDX49 p.Arg147Pro Uncertain significance Single submitter
- DDX49 p.Arg269His Uncertain significance Single submitter
- DDX49 p.Arg300Trp Uncertain significance Single submitter
- DDX49 p.Arg413Gln Uncertain significance Single submitter
- DDX49 p.Arg429Ser Uncertain significance Single submitter
- DDX49 p.Gly327Arg Uncertain significance Single submitter
- DDX49 p.Leu425Pro Uncertain significance Single submitter
- DDX49 p.Met110Ile Uncertain significance Single submitter
All DDX49 variants
Likely benign 3
- p.Arg464His Single submitter
- p.Gly420= Single submitter
- p.Val57= Single submitter
Uncertain significance 64
- p.Ala132Val Single submitter ⚠
- p.Ala154Val Single submitter ⚠
- p.Ala174Glu Single submitter ⚠
- p.Ala174Val Single submitter ⚠
- p.Ala233Pro Single submitter ⚠
- p.Ala290Thr Single submitter ⚠
- p.Ala35Pro Single submitter ⚠
- p.Ala379Val Single submitter ⚠
- p.Ala401Val Single submitter ⚠
- p.Ala5Gly Single submitter ⚠
- p.Arg147Cys Single submitter ⚠
- p.Arg147Pro Single submitter ⚠
- p.Arg179Cys Single submitter ⚠
- p.Arg222Cys Single submitter ⚠
- p.Arg241His Single submitter ⚠
- p.Arg269His Single submitter ⚠
- p.Arg287Cys Single submitter ⚠
- p.Arg300Gln Single submitter ⚠
- p.Arg300Trp Single submitter ⚠
- p.Arg344Gln Single submitter ⚠
- p.Arg413Gln Single submitter ⚠
- p.Arg429His Single submitter ⚠
- p.Arg429Ser Single submitter ⚠
- p.Arg453Gln Single submitter ⚠
- p.Arg458Trp Single submitter ⚠
- p.Arg91Gln Single submitter ⚠
- p.Arg91Pro Single submitter ⚠
- p.Arg91Trp Single submitter
- p.Asp133Asn Single submitter ⚠
- p.Cys102Phe Single submitter ⚠
- p.Gln218Leu Single submitter ⚠
- p.Gln366His Single submitter ⚠
- p.Glu116Asp Single submitter ⚠
- p.Glu247Lys Single submitter ⚠
- p.Gly327Arg Single submitter ⚠
- p.Gly457Asp Single submitter ⚠
- p.Gly460Asp Single submitter ⚠
- p.His473Tyr Single submitter ⚠
- p.Ile143Met Single submitter ⚠
- p.Ile172Val Single submitter ⚠
- p.Ile298Leu Single submitter ⚠
- p.Ile314Val Single submitter
- p.Ile36Val Single submitter ⚠
- p.Leu328Val Single submitter ⚠
- p.Leu425Pro Single submitter ⚠
- p.Leu61Ser Single submitter ⚠
- p.Lys370Gln Single submitter ⚠
- p.Met110Ile Single submitter ⚠
- p.Met281Val Single submitter ⚠
- p.Met282Val Single submitter
- p.Phe141Cys Single submitter
- p.Pro128Leu Single submitter ⚠
- p.Pro177Arg Single submitter ⚠
- p.Pro212Ser Single submitter ⚠
- p.Pro469Leu Single submitter ⚠
- p.Ser118Ala Single submitter ⚠
- p.Ser272Thr Single submitter ⚠
- p.Thr275Ala Single submitter ⚠
- p.Tyr299Ser Single submitter ⚠
- p.Val167Met Single submitter ⚠
- p.Val213Leu Single submitter ⚠
- p.Val216Met Single submitter ⚠
- p.Val276Met Single submitter ⚠
- p.Val57Leu Single submitter