DDX1 — 79 ClinVar variants
All ClinVar germline DDX1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 67 flagged for review →
2 Benign · 3 Likely benign · 74 Uncertain significance
Full DDX1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 67
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 41
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- DDX1 p.Ala16Thr Uncertain significance Single submitter
- DDX1 p.Ala261Ser Uncertain significance Single submitter
- DDX1 p.Ala722Val Uncertain significance Single submitter
- DDX1 p.Arg400Thr Uncertain significance Single submitter
- DDX1 p.Arg602Gln Uncertain significance Single submitter
- DDX1 p.Asn360Tyr Uncertain significance Single submitter
- DDX1 p.Asp646Ala Uncertain significance Single submitter
- DDX1 p.Asp706Ala Uncertain significance Single submitter
- DDX1 p.Gln142Glu Uncertain significance Single submitter
- DDX1 p.Gln657Pro Uncertain significance Single submitter
- DDX1 p.Glu246Gln Uncertain significance Single submitter
- DDX1 p.Gly326Val Uncertain significance Single submitter
- DDX1 p.Gly339Glu Uncertain significance Single submitter
- DDX1 p.Gly531Ala Uncertain significance Single submitter
- DDX1 p.Gly648Asp Uncertain significance Single submitter
- DDX1 p.His728Tyr Uncertain significance Single submitter
- DDX1 p.Ile266Thr Uncertain significance Single submitter
- DDX1 p.Ile510Val Uncertain significance Single submitter
- DDX1 p.Ile511Val Uncertain significance Single submitter
- DDX1 p.Ile517Val Uncertain significance Single submitter
- DDX1 p.Leu290Val Uncertain significance Single submitter
- DDX1 p.Lys130Gln Uncertain significance Single submitter
- DDX1 p.Lys451Thr Uncertain significance Single submitter
- DDX1 p.Lys678Glu Uncertain significance Single submitter
- DDX1 p.Lys90Glu Uncertain significance Single submitter
- DDX1 p.Met222Val Uncertain significance Single submitter
- DDX1 p.Pro262Gln Uncertain significance Single submitter
- DDX1 p.Pro262Leu Uncertain significance Single submitter
- DDX1 p.Pro593His Uncertain significance Single submitter
- DDX1 p.Pro680Ser Uncertain significance Single submitter
- DDX1 p.Ser362Pro Uncertain significance Single submitter
- DDX1 p.Ser407Pro Uncertain significance Single submitter
- DDX1 p.Ser50Asn Uncertain significance Single submitter
- DDX1 p.Ser541Leu Uncertain significance Single submitter
- DDX1 p.Ser5Thr Uncertain significance Single submitter
- DDX1 p.Thr475Pro Uncertain significance Single submitter
- DDX1 p.Tyr135Cys Uncertain significance Single submitter
- DDX1 p.Tyr182Cys Uncertain significance Single submitter
- DDX1 p.Val498Ile Uncertain significance Single submitter
- DDX1 p.Val566Ala Uncertain significance Single submitter
- DDX1 p.Val60Leu Uncertain significance Single submitter
Predictors split 26
The independent predictors disagree with each other — read with care.
- DDX1 p.Ala261Gly Uncertain significance Single submitter
- DDX1 p.Ala2Val Uncertain significance Single submitter
- DDX1 p.Ala30Asp Uncertain significance Single submitter
- DDX1 p.Ala3Thr Uncertain significance Single submitter
- DDX1 p.Arg114Ile Uncertain significance Single submitter
- DDX1 p.Arg476Ile Uncertain significance Single submitter
- DDX1 p.Arg499Trp Uncertain significance Single submitter
- DDX1 p.Asp211Val Uncertain significance Single submitter
- DDX1 p.Asp435Val Uncertain significance Single submitter
- DDX1 p.Asp520Asn Uncertain significance Single submitter
- DDX1 p.Asp646Val Uncertain significance Single submitter
- DDX1 p.Glu503Val Uncertain significance Single submitter
- DDX1 p.Gly564Arg Uncertain significance Single submitter
- DDX1 p.Ile104Thr Uncertain significance Single submitter
- DDX1 p.Ile313Thr Uncertain significance Single submitter
- DDX1 p.Leu43Phe Uncertain significance Single submitter
- DDX1 p.Met188Ile Uncertain significance Single submitter
- DDX1 p.Met612Leu Uncertain significance Single submitter
- DDX1 p.Phe726Leu Uncertain significance Single submitter
- DDX1 p.Pro251Leu Uncertain significance Single submitter
- DDX1 p.Pro675Leu Uncertain significance Single submitter
- DDX1 p.Thr641Ile Uncertain significance Single submitter
- DDX1 p.Thr67Ile Uncertain significance Single submitter
- DDX1 p.Tyr134Cys Uncertain significance Single submitter
- DDX1 p.Val64Ala Uncertain significance Single submitter
- DDX1 p.Val712Ala Uncertain significance Single submitter
All DDX1 variants
Likely benign 3
- p.Asn389Ser Single submitter
- p.Met387Ile Single submitter
- p.Tyr599= Single submitter
Uncertain significance 74
- c.1448-2A>G Single submitter
- p.Ala16Thr Single submitter ⚠
- p.Ala261Gly Single submitter ⚠
- p.Ala261Ser Single submitter ⚠
- p.Ala2Val Single submitter ⚠
- p.Ala30Asp Single submitter ⚠
- p.Ala3Thr Single submitter ⚠
- p.Ala722Val Single submitter ⚠
- p.Arg114Ile Single submitter ⚠
- p.Arg400Thr Single submitter ⚠
- p.Arg476Ile Single submitter ⚠
- p.Arg499Trp Single submitter ⚠
- p.Arg602Gln Single submitter ⚠
- p.Asn360Tyr Single submitter ⚠
- p.Asp211Val Single submitter ⚠
- p.Asp414Val Single submitter
- p.Asp435Val Single submitter ⚠
- p.Asp520Asn Single submitter ⚠
- p.Asp646Ala Single submitter ⚠
- p.Asp646Val Single submitter ⚠
- p.Asp706Ala Single submitter ⚠
- p.Gln142Glu Single submitter ⚠
- p.Gln657Pro Single submitter ⚠
- p.Glu246Gln Single submitter ⚠
- p.Glu503Val Single submitter ⚠
- p.Gly326Val Single submitter ⚠
- p.Gly339Glu Single submitter ⚠
- p.Gly531Ala Single submitter ⚠
- p.Gly564Arg Single submitter ⚠
- p.Gly648Asp Single submitter ⚠
- p.His175Leu Single submitter
- p.His728Tyr Single submitter ⚠
- p.Ile104Thr Single submitter ⚠
- p.Ile266Thr Single submitter ⚠
- p.Ile313Thr Single submitter ⚠
- p.Ile510Val Single submitter ⚠
- p.Ile511Val Single submitter ⚠
- p.Ile517Val Single submitter ⚠
- p.Leu290Val Single submitter ⚠
- p.Leu369fs Single submitter
- p.Leu43Phe Single submitter ⚠
- p.Lys130Gln Single submitter ⚠
- p.Lys248Ter Single submitter
- p.Lys451Thr Single submitter ⚠
- p.Lys678Glu Single submitter ⚠
- p.Lys90Glu Single submitter ⚠
- p.Met188Ile Single submitter ⚠
- p.Met222Val Single submitter ⚠
- p.Met612Leu Single submitter ⚠
- p.Phe726Leu Single submitter ⚠
- p.Pro251Leu Single submitter ⚠
- p.Pro262Gln Single submitter ⚠
- p.Pro262Leu Single submitter ⚠
- p.Pro593His Single submitter ⚠
- p.Pro675Leu Single submitter ⚠
- p.Pro680Ser Single submitter ⚠
- p.Ser362Pro Single submitter ⚠
- p.Ser407Pro Single submitter ⚠
- p.Ser50Asn Single submitter ⚠
- p.Ser541Leu Single submitter ⚠
- p.Ser5Thr Single submitter ⚠
- p.Thr475Pro Single submitter ⚠
- p.Thr641Ile Single submitter ⚠
- p.Thr67Ile Single submitter ⚠
- p.Tyr134Cys Single submitter ⚠
- p.Tyr135Cys Single submitter ⚠
- p.Tyr182Cys Single submitter ⚠
- p.Tyr96Asn Single submitter
- p.Val498Ile Single submitter ⚠
- p.Val566Ala Single submitter ⚠
- p.Val574Ile Single submitter
- p.Val60Leu Single submitter ⚠
- p.Val64Ala Single submitter ⚠
- p.Val712Ala Single submitter ⚠