CDX2 — 50 ClinVar variants
All ClinVar germline CDX2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 46 flagged for review →
1 Likely pathogenic · 1 Conflicting · 1 Benign · 1 Likely benign · 46 Uncertain significance
Full CDX2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 46
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 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
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CDX2 p.Glu241Gly
Conflicting
Single submitter
anorectal malformation
Predictors lean, ClinVar uncertain 23
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CDX2 p.Ala148Ser Uncertain significance Single submitter
- CDX2 p.Ala68Gly Uncertain significance Single submitter
- CDX2 p.Arg209Cys Uncertain significance Single submitter
- CDX2 p.Asp112Ala Uncertain significance Single submitter
- CDX2 p.Asp112Asn Uncertain significance Single submitter
- CDX2 p.Asp8Glu Uncertain significance Single submitter
- CDX2 p.Gln289Glu Uncertain significance Single submitter
- CDX2 p.Gln36Glu Uncertain significance Single submitter
- CDX2 p.Gly160Ser Uncertain significance Single submitter
- CDX2 p.Gly84Ser Uncertain significance Single submitter
- CDX2 p.His94Gln Uncertain significance Single submitter
- CDX2 p.Leu140Val Uncertain significance Single submitter
- CDX2 p.Leu7Pro Uncertain significance Single submitter
- CDX2 p.Pro101Ala Uncertain significance Single submitter
- CDX2 p.Pro130Ala Uncertain significance Single submitter
- CDX2 p.Pro284Ser Uncertain significance Single submitter
- CDX2 p.Pro309Thr Uncertain significance Single submitter
- CDX2 p.Pro35Thr Uncertain significance Single submitter
- CDX2 p.Ser179Asn Uncertain significance Single submitter
- CDX2 p.Ser17Pro Uncertain significance Single submitter
- CDX2 p.Ser283Arg Uncertain significance Single submitter
- CDX2 p.Thr222Met Uncertain significance Single submitter
- CDX2 p.Thr312Ser Uncertain significance Single submitter
Predictors split 22
The independent predictors disagree with each other — read with care.
- CDX2 p.Ala103Ser Uncertain significance Single submitter
- CDX2 p.Ala127Asp Uncertain significance Single submitter
- CDX2 p.Ala46Glu Uncertain significance Single submitter
- CDX2 p.Ala86Ser Uncertain significance Single submitter
- CDX2 p.Ala88Ser Uncertain significance Single submitter
- CDX2 p.Arg163Gln Uncertain significance Single submitter
- CDX2 p.Asn90Lys Uncertain significance Single submitter
- CDX2 p.Cys166Ser Uncertain significance Single submitter
- CDX2 p.Gln180Lys Uncertain significance Single submitter
- CDX2 p.Gln254Pro Uncertain significance Single submitter
- CDX2 p.Gln256Arg Uncertain significance Single submitter
- CDX2 p.Gln36Arg Uncertain significance Single submitter
- CDX2 p.Gly160Asp Uncertain significance Single submitter
- CDX2 p.Gly273Arg Uncertain significance Single submitter
- CDX2 p.Gly41Asp Uncertain significance Single submitter
- CDX2 p.His114Gln Uncertain significance Single submitter
- CDX2 p.His116Pro Uncertain significance Single submitter
- CDX2 p.His118Gln Uncertain significance Single submitter
- CDX2 p.Pro115Thr Uncertain significance Single submitter
- CDX2 p.Pro123Leu Uncertain significance Single submitter
- CDX2 p.Pro172Ser Uncertain significance Single submitter
- CDX2 p.Val306Met Uncertain significance Single submitter
All CDX2 variants
Likely pathogenic 1
- p.Ter314Arg Single submitter sirenomelia
Conflicting classifications of pathogenicity 1
- p.Glu241Gly Single submitter anorectal malformation ⚠
Benign 1
- p.Pro293= Single submitter
Likely benign 1
- c.688-6T>A Single submitter
Uncertain significance 46
- p.Ala103Ser Single submitter ⚠
- p.Ala127Asp Single submitter ⚠
- p.Ala148Ser Single submitter ⚠
- p.Ala46Glu Single submitter ⚠
- p.Ala68Gly Single submitter ⚠
- p.Ala86Ser Single submitter ⚠
- p.Ala88Ser Single submitter ⚠
- p.Arg163Gln Single submitter ⚠
- p.Arg209Cys Single submitter ⚠
- p.Asn90Lys Single submitter ⚠
- p.Asp112Ala Single submitter ⚠
- p.Asp112Asn Single submitter ⚠
- p.Asp8Glu Single submitter ⚠
- p.Cys166Ser Single submitter ⚠
- p.Gln180Lys Single submitter ⚠
- p.Gln254Pro Single submitter ⚠
- p.Gln256Arg Single submitter ⚠
- p.Gln289Glu Single submitter ⚠
- p.Gln36Arg Single submitter ⚠
- p.Gln36Glu Single submitter ⚠
- p.Gly160Asp Single submitter ⚠
- p.Gly160Ser Single submitter ⚠
- p.Gly273Arg Single submitter ⚠
- p.Gly41Asp Single submitter ⚠
- p.Gly84Ser Single submitter ⚠
- p.His114Gln Single submitter ⚠
- p.His116Pro Single submitter ⚠
- p.His118Gln Single submitter ⚠
- p.His94Gln Single submitter ⚠
- p.Leu140Val Single submitter ⚠
- p.Leu7Pro Single submitter ⚠
- p.Pro101Ala Single submitter ⚠
- p.Pro115Thr Single submitter ⚠
- p.Pro123Leu Single submitter ⚠
- p.Pro130Ala Single submitter ⚠
- p.Pro172Ser Single submitter ⚠
- p.Pro284Ser Single submitter ⚠
- p.Pro309Thr Single submitter ⚠
- p.Pro35Thr Single submitter ⚠
- p.Ser179Asn Single submitter ⚠
- p.Ser17Pro Single submitter ⚠
- p.Ser283Arg Single submitter ⚠
- p.Ser4fs Single submitter
- p.Thr222Met Single submitter ⚠
- p.Thr312Ser Single submitter ⚠
- p.Val306Met Single submitter ⚠