DDX23 — 144 ClinVar variants
All ClinVar germline DDX23 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 113 flagged for review →
2 Pathogenic · 3 Likely pathogenic · 4 Conflicting · 1 Benign · 16 Likely benign · 118 Uncertain significance
Full DDX23 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 113
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 agree, ClinVar conflicts 3
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
DDX23 p.Ala139Gly
Conflicting
Single submitter
Inborn genetic diseases
-
DDX23 p.Ile629Ser
Conflicting
Single submitter
Abnormal facial shape
- DDX23 p.Thr755Met Conflicting Single submitter
Predictors lean, ClinVar uncertain 53
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
DDX23 p.Arg528His
Uncertain significance
Multiple submitters
intellectual disability
-
DDX23 p.Thr454Ile
Uncertain significance
Multiple submitters
DDX23-related Neurodevelopmental disorder
-
DDX23 p.Arg105Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
DDX23 p.Arg119Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
DDX23 p.Arg184Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
DDX23 p.Arg192Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
DDX23 p.Arg318Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
DDX23 p.Arg32Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
DDX23 p.Arg344His
Uncertain significance
Single submitter
Inborn genetic diseases
-
DDX23 p.Arg429Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- DDX23 p.Arg498Leu Uncertain significance Single submitter
- DDX23 p.Arg528Cys Uncertain significance Single submitter
-
DDX23 p.Arg53Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
DDX23 p.Arg751Cys
Uncertain significance
Single submitter
DDX23-related disorder
-
DDX23 p.Asn690Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- DDX23 p.Asp100Asn Uncertain significance Single submitter
- DDX23 p.Asp322Ala Uncertain significance Single submitter
-
DDX23 p.Asp33His
Uncertain significance
Single submitter
Inborn genetic diseases
-
DDX23 p.Asp363Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- DDX23 p.Asp549Val Uncertain significance Single submitter
-
DDX23 p.Glu78Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- DDX23 p.Glu82Ala Uncertain significance Single submitter
-
DDX23 p.Gly3Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- DDX23 p.Gly3Arg Uncertain significance Single submitter
- DDX23 p.Gly762Arg Uncertain significance Single submitter
- DDX23 p.His356Arg Uncertain significance Single submitter
- DDX23 p.His47Asp Uncertain significance Single submitter
-
DDX23 p.His695Gln
Uncertain significance
Single submitter
DDX23-related disorder
- DDX23 p.His97Tyr Uncertain significance Single submitter
- DDX23 p.Ile379Met Uncertain significance Single submitter
- DDX23 p.Ile417Leu Uncertain significance Single submitter
-
DDX23 p.Ile462Met
Uncertain significance
Single submitter
Inborn genetic diseases
- DDX23 p.Ile629Val Uncertain significance Single submitter
- DDX23 p.Leu108Ser Uncertain significance Single submitter
- DDX23 p.Leu426Gln Uncertain significance Single submitter
-
DDX23 p.Leu529Val
Uncertain significance
Single submitter
Inborn genetic diseases
- DDX23 p.Lys104Glu Uncertain significance Single submitter
- DDX23 p.Lys260Arg Uncertain significance Single submitter
- DDX23 p.Lys88Asn Uncertain significance Single submitter
-
DDX23 p.Lys88Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
DDX23 p.Met187Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- DDX23 p.Met604Ile Uncertain significance Single submitter
- DDX23 p.Met609Ile Uncertain significance Single submitter
-
DDX23 p.Pro110Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- DDX23 p.Pro161Ser Uncertain significance Single submitter
-
DDX23 p.Pro26Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
DDX23 p.Pro792Arg
Uncertain significance
Single submitter
neurodevelopmental disorder with visual defects and brain anomalies
- DDX23 p.Ser118Tyr Uncertain significance Single submitter
- DDX23 p.Ser16Tyr Uncertain significance Single submitter
- DDX23 p.Ser41Pro Uncertain significance Single submitter
- DDX23 p.Thr769Lys Uncertain significance Single submitter
- DDX23 p.Val626Met Uncertain significance Single submitter
-
DDX23 p.Gln731Glu
Uncertain significance
No assertion criteria
DDX23-related disorder
Predictors split 57
The independent predictors disagree with each other — read with care.
-
DDX23 p.Gln178His
Uncertain significance
Multiple submitters
Inborn genetic diseases
- DDX23 p.Ile379Val Uncertain significance Multiple submitters
-
DDX23 p.Lys241Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DDX23 p.Ala171Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- DDX23 p.Ala681Thr Uncertain significance Single submitter
-
DDX23 p.Arg11Cys
Conflicting
Single submitter
Inborn genetic diseases
-
DDX23 p.Arg215Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
DDX23 p.Arg223Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
DDX23 p.Arg223Trp
Uncertain significance
Single submitter
Inborn genetic diseases
- DDX23 p.Arg234Trp Likely benign Single submitter
- DDX23 p.Arg238Trp Uncertain significance Single submitter
- DDX23 p.Arg262His Uncertain significance Single submitter
- DDX23 p.Arg293Trp Uncertain significance Single submitter
-
DDX23 p.Arg34Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
DDX23 p.Arg36Trp
Likely benign
Single submitter
Inborn genetic diseases
-
DDX23 p.Arg46Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
DDX23 p.Arg48Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
DDX23 p.Arg60Cys
Likely benign
Single submitter
Inborn genetic diseases
-
DDX23 p.Arg62His
Uncertain significance
Single submitter
Inborn genetic diseases
-
DDX23 p.Arg638Cys
Likely pathogenic
Single submitter
neurodevelopmental disorder
-
DDX23 p.Arg64Cys
Likely benign
Single submitter
Inborn genetic diseases
-
DDX23 p.Arg72Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- DDX23 p.Arg79Gly Uncertain significance Single submitter
-
DDX23 p.Arg813Cys
Likely pathogenic
Single submitter
bilateral perisylvian polymicrogyria
-
DDX23 p.Arg83Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
DDX23 p.Arg85Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
DDX23 p.Arg92Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
DDX23 p.Arg99Trp
Uncertain significance
Single submitter
Inborn genetic diseases
- DDX23 p.Asn574Lys Pathogenic Single submitter
- DDX23 p.Asp354Asn Uncertain significance Single submitter
-
DDX23 p.Asp51Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
DDX23 p.Asp84Val
Uncertain significance
Single submitter
Inborn genetic diseases
- DDX23 p.Gln802His Uncertain significance Single submitter
-
DDX23 p.Glu158Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- DDX23 p.Glu550Lys Uncertain significance Single submitter
- DDX23 p.Gly233Arg Uncertain significance Single submitter
- DDX23 p.His266Tyr Uncertain significance Single submitter
- DDX23 p.His798Asn Uncertain significance Single submitter
-
DDX23 p.Ile728Val
Uncertain significance
Single submitter
Inborn genetic diseases
- DDX23 p.Ile818Phe Uncertain significance Single submitter
-
DDX23 p.Leu298Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
DDX23 p.Leu659Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
DDX23 p.Leu710Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
DDX23 p.Leu768Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
DDX23 p.Lys166Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
DDX23 p.Lys394Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- DDX23 p.Phe163Leu Uncertain significance Single submitter
-
DDX23 p.Phe776Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
DDX23 p.Pro141Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- DDX23 p.Pro141Thr Uncertain significance Single submitter
-
DDX23 p.Pro494Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
DDX23 p.Ser358Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
DDX23 p.Thr366Met
Uncertain significance
Single submitter
Inborn genetic diseases
- DDX23 p.Thr381Ala Uncertain significance Single submitter
-
DDX23 p.Thr455Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
DDX23 p.Val296Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
DDX23 p.Val679Met
Uncertain significance
Single submitter
Inborn genetic diseases
All DDX23 variants
Pathogenic 2
- p.Asn574Lys Single submitter ⚠
- p.Asn709_Leu710del Single submitter
Likely pathogenic 3
- p.Arg638Cys Single submitter neurodevelopmental disorder ⚠
- p.Arg813Cys Single submitter bilateral perisylvian polymicrogyria ⚠
- p.Lys711Glu Single submitter
Conflicting classifications of pathogenicity 4
- p.Ala139Gly Single submitter Inborn genetic diseases ⚠
- p.Arg11Cys Single submitter Inborn genetic diseases ⚠
- p.Ile629Ser Single submitter Abnormal facial shape ⚠
- p.Thr755Met Single submitter ⚠
Benign 1
- p.Asp363= Single submitter
Likely benign 16
- c.2240-5C>T Single submitter
- c.480+4A>T Single submitter
- p.Ala157= Single submitter
- p.Ala617= Single submitter
- p.Arg234Trp Single submitter ⚠
- p.Arg24Gln Single submitter
- p.Arg36Trp Single submitter Inborn genetic diseases ⚠
- p.Arg48His Single submitter Inborn genetic diseases
- p.Arg60Cys Single submitter Inborn genetic diseases ⚠
- p.Arg64Cys Single submitter Inborn genetic diseases ⚠
- p.Asn388Ser Single submitter Inborn genetic diseases
- p.Asp33Glu Single submitter Inborn genetic diseases
- p.Gly384= Single submitter
- p.Leu426= Single submitter
- p.Pro793= Single submitter
- p.Val723= Single submitter
Uncertain significance 118
- p.Arg528His Multiple submitters intellectual disability ⚠
- p.Gln178His Multiple submitters Inborn genetic diseases ⚠
- p.Ile379Val Multiple submitters ⚠
- p.Lys241Asn Multiple submitters Inborn genetic diseases ⚠
- p.Thr454Ile Multiple submitters DDX23-related Neurodevelopmental disorder ⚠
- c.480+2T>C Single submitter neurodevelopmental disorder
- c.620-2A>C Single submitter
- p.76ER[1] Single submitter
- p.Ala171Thr Single submitter Inborn genetic diseases ⚠
- p.Ala681Thr Single submitter ⚠
- p.Arg105Gln Single submitter Inborn genetic diseases ⚠
- p.Arg119Gln Single submitter Inborn genetic diseases ⚠
- p.Arg184Gln Single submitter Inborn genetic diseases ⚠
- p.Arg192Lys Single submitter Inborn genetic diseases ⚠
- p.Arg215Trp Single submitter Inborn genetic diseases ⚠
- p.Arg223Gln Single submitter Inborn genetic diseases ⚠
- p.Arg223Trp Single submitter Inborn genetic diseases ⚠
- p.Arg238Trp Single submitter ⚠
- p.Arg262His Single submitter ⚠
- p.Arg293Trp Single submitter ⚠
- p.Arg301Ter Single submitter
- p.Arg318Cys Single submitter Inborn genetic diseases ⚠
- p.Arg32Lys Single submitter Inborn genetic diseases ⚠
- p.Arg344His Single submitter Inborn genetic diseases ⚠
- p.Arg34Gln Single submitter Inborn genetic diseases ⚠
- p.Arg391Ter Single submitter
- p.Arg429Cys Single submitter Inborn genetic diseases ⚠
- p.Arg46Gln Single submitter Inborn genetic diseases ⚠
- p.Arg48Cys Single submitter Inborn genetic diseases ⚠
- p.Arg498Leu Single submitter ⚠
- p.Arg528Cys Single submitter ⚠
- p.Arg53Gly Single submitter Inborn genetic diseases ⚠
- p.Arg62His Single submitter Inborn genetic diseases ⚠
- p.Arg72Gln Single submitter Inborn genetic diseases ⚠
- p.Arg751Cys Single submitter DDX23-related disorder ⚠
- p.Arg79_Asp80insGluArg Single submitter
- p.Arg79Gly Single submitter ⚠
- p.Arg83Trp Single submitter Inborn genetic diseases ⚠
- p.Arg85Trp Single submitter Inborn genetic diseases ⚠
- p.Arg90Ter Single submitter
- p.Arg92Gln Single submitter Inborn genetic diseases ⚠
- p.Arg99Trp Single submitter Inborn genetic diseases ⚠
- p.Asn690Ser Single submitter Inborn genetic diseases ⚠
- p.Asp100Asn Single submitter ⚠
- p.Asp322Ala Single submitter ⚠
- p.Asp33His Single submitter Inborn genetic diseases ⚠
- p.Asp354Asn Single submitter ⚠
- p.Asp363Gly Single submitter Inborn genetic diseases ⚠
- p.Asp51Val Single submitter Inborn genetic diseases ⚠
- p.Asp549Val Single submitter ⚠
- p.Asp84Val Single submitter Inborn genetic diseases ⚠
- p.Gln350fs Single submitter
- p.Gln802His Single submitter ⚠
- p.Glu158Lys Single submitter Inborn genetic diseases ⚠
- p.Glu436_Thr437del Single submitter
- p.Glu550Lys Single submitter ⚠
- p.Glu78Asp Single submitter Inborn genetic diseases ⚠
- p.Glu82Ala Single submitter ⚠
- p.Gly233Arg Single submitter ⚠
- p.Gly3Ala Single submitter Inborn genetic diseases ⚠
- p.Gly3Arg Single submitter ⚠
- p.Gly762Arg Single submitter ⚠
- p.His266Tyr Single submitter ⚠
- p.His356Arg Single submitter ⚠
- p.His47Asp Single submitter ⚠
- p.His695Gln Single submitter DDX23-related disorder ⚠
- p.His798Asn Single submitter ⚠
- p.His97Tyr Single submitter ⚠
- p.Ile379Met Single submitter ⚠
- p.Ile417Leu Single submitter ⚠
- p.Ile462Met Single submitter Inborn genetic diseases ⚠
- p.Ile629Val Single submitter ⚠
- p.Ile728Val Single submitter Inborn genetic diseases ⚠
- p.Ile818Phe Single submitter ⚠
- p.Leu108Ser Single submitter ⚠
- p.Leu289fs Single submitter
- p.Leu298Phe Single submitter Inborn genetic diseases ⚠
- p.Leu426Gln Single submitter ⚠
- p.Leu529Val Single submitter Inborn genetic diseases ⚠
- p.Leu659Val Single submitter Inborn genetic diseases ⚠
- p.Leu710Phe Single submitter Inborn genetic diseases ⚠
- p.Leu768Phe Single submitter Inborn genetic diseases ⚠
- p.Lys104Glu Single submitter ⚠
- p.Lys166Gln Single submitter Inborn genetic diseases ⚠
- p.Lys260Arg Single submitter ⚠
- p.Lys271Arg Single submitter
- p.Lys345Ter Single submitter
- p.Lys394Glu Single submitter Inborn genetic diseases ⚠
- p.Lys642del Single submitter
- p.Lys88Asn Single submitter ⚠
- p.Lys88del Single submitter
- p.Lys88Gln Single submitter Inborn genetic diseases ⚠
- p.Met187Thr Single submitter Inborn genetic diseases ⚠
- p.Met604Ile Single submitter ⚠
- p.Met609Ile Single submitter ⚠
- p.Phe163Leu Single submitter ⚠
- p.Phe776Leu Single submitter Inborn genetic diseases ⚠
- p.Pro110Ser Single submitter Inborn genetic diseases ⚠
- p.Pro141Ser Single submitter Inborn genetic diseases ⚠
- p.Pro141Thr Single submitter ⚠
- p.Pro161Ser Single submitter ⚠
- p.Pro26Ser Single submitter Inborn genetic diseases ⚠
- p.Pro494Leu Single submitter Inborn genetic diseases ⚠
- p.Pro792Arg Single submitter neurodevelopmental disorder with visual defects and brain anomalies ⚠
- p.Ser118Tyr Single submitter ⚠
- p.Ser16Tyr Single submitter ⚠
- p.Ser317Ter Single submitter
- p.Ser358Cys Single submitter Inborn genetic diseases ⚠
- p.Ser41Pro Single submitter ⚠
- p.Thr25fs Single submitter
- p.Thr366Met Single submitter Inborn genetic diseases ⚠
- p.Thr381Ala Single submitter ⚠
- p.Thr455Ile Single submitter Inborn genetic diseases ⚠
- p.Thr769Lys Single submitter ⚠
- p.Val296Met Single submitter Inborn genetic diseases ⚠
- p.Val626Met Single submitter ⚠
- p.Val679Met Single submitter Inborn genetic diseases ⚠
- p.Gln731Glu No assertion criteria DDX23-related disorder ⚠