DDX5 — 42 ClinVar variants
All ClinVar germline DDX5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 40 flagged for review →
1 Benign · 1 Likely benign · 40 Uncertain significance
Full DDX5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 40
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 32
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- DDX5 p.Ala103Val Uncertain significance Single submitter
- DDX5 p.Ala499Val Uncertain significance Single submitter
- DDX5 p.Ala592Val Uncertain significance Single submitter
- DDX5 p.Ala597Pro Uncertain significance Single submitter
- DDX5 p.Arg352Lys Uncertain significance Single submitter
- DDX5 p.Arg486Lys Uncertain significance Single submitter
- DDX5 p.Arg524Lys Uncertain significance Single submitter
- DDX5 p.Asn448Asp Uncertain significance Single submitter
- DDX5 p.Asn542Ser Uncertain significance Single submitter
- DDX5 p.Asp13Glu Uncertain significance Single submitter
- DDX5 p.Asp272Val Uncertain significance Single submitter
- DDX5 p.Asp322Glu Uncertain significance Single submitter
- DDX5 p.Gln71His Uncertain significance Single submitter
- DDX5 p.Ile109Thr Uncertain significance Single submitter
- DDX5 p.Ile450Val Uncertain significance Single submitter
- DDX5 p.Ile467Val Uncertain significance Single submitter
- DDX5 p.Leu150Pro Uncertain significance Single submitter
- DDX5 p.Lys80Arg Uncertain significance Single submitter
- DDX5 p.Met106Ile Uncertain significance Single submitter
- DDX5 p.Pro126Ser Uncertain significance Single submitter
- DDX5 p.Pro28His Uncertain significance Single submitter
- DDX5 p.Pro393Ser Uncertain significance Single submitter
- DDX5 p.Pro596Ala Uncertain significance Single submitter
- DDX5 p.Ser30Phe Uncertain significance Single submitter
- DDX5 p.Thr560Ile Uncertain significance Single submitter
- DDX5 p.Tyr4Phe Uncertain significance Single submitter
- DDX5 p.Tyr76Phe Uncertain significance Single submitter
- DDX5 p.Val172Met Uncertain significance Single submitter
- DDX5 p.Val319Ala Uncertain significance Single submitter
- DDX5 p.Val581Gly Uncertain significance Single submitter
- DDX5 p.Val581Phe Uncertain significance Single submitter
-
DDX5 p.Ala280Val
Uncertain significance
No assertion criteria
Global developmental delay
Predictors split 8
The independent predictors disagree with each other — read with care.
- DDX5 p.Ala119Thr Uncertain significance Single submitter
- DDX5 p.Ala122Val Uncertain significance Single submitter
- DDX5 p.Arg494Pro Uncertain significance Single submitter
- DDX5 p.Glu341Gln Uncertain significance Single submitter
- DDX5 p.Gly570Arg Uncertain significance Single submitter
- DDX5 p.His311Arg Uncertain significance Single submitter
- DDX5 p.Phe21Leu Uncertain significance Single submitter
- DDX5 p.Ser519Phe Uncertain significance Single submitter
All DDX5 variants
Benign 1
- p.Gln268= Multiple submitters
Likely benign 1
- p.Gly15= Single submitter
Uncertain significance 40
- p.Ala103Val Single submitter ⚠
- p.Ala119Thr Single submitter ⚠
- p.Ala122Val Single submitter ⚠
- p.Ala499Val Single submitter ⚠
- p.Ala592Val Single submitter ⚠
- p.Ala597Pro Single submitter ⚠
- p.Arg352Lys Single submitter ⚠
- p.Arg486Lys Single submitter ⚠
- p.Arg494Pro Single submitter ⚠
- p.Arg524Lys Single submitter ⚠
- p.Asn448Asp Single submitter ⚠
- p.Asn542Ser Single submitter ⚠
- p.Asp13Glu Single submitter ⚠
- p.Asp272Val Single submitter ⚠
- p.Asp322Glu Single submitter ⚠
- p.Gln71His Single submitter ⚠
- p.Glu341Gln Single submitter ⚠
- p.Gly570Arg Single submitter ⚠
- p.His311Arg Single submitter ⚠
- p.Ile109Thr Single submitter ⚠
- p.Ile450Val Single submitter ⚠
- p.Ile467Val Single submitter ⚠
- p.Leu150Pro Single submitter ⚠
- p.Lys80Arg Single submitter ⚠
- p.Met106Ile Single submitter ⚠
- p.Phe21Leu Single submitter ⚠
- p.Pro126Ser Single submitter ⚠
- p.Pro28His Single submitter ⚠
- p.Pro393Ser Single submitter ⚠
- p.Pro596Ala Single submitter ⚠
- p.Ser30Phe Single submitter ⚠
- p.Ser519Phe Single submitter ⚠
- p.Thr560Ile Single submitter ⚠
- p.Tyr4Phe Single submitter ⚠
- p.Tyr76Phe Single submitter ⚠
- p.Val172Met Single submitter ⚠
- p.Val319Ala Single submitter ⚠
- p.Val581Gly Single submitter ⚠
- p.Val581Phe Single submitter ⚠
- p.Ala280Val No assertion criteria Global developmental delay ⚠