DDX47 — 82 ClinVar variants
All ClinVar germline DDX47 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 78 flagged for review →
82 Uncertain significance
Full DDX47 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 78
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 54
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- DDX47 p.Ile364Val Uncertain significance Multiple submitters
- DDX47 p.Ala105Thr Uncertain significance Single submitter
- DDX47 p.Ala227Val Uncertain significance Single submitter
- DDX47 p.Ala262Ser Uncertain significance Single submitter
- DDX47 p.Ala38Val Uncertain significance Single submitter
- DDX47 p.Ala77Thr Uncertain significance Single submitter
- DDX47 p.Ala85Thr Uncertain significance Single submitter
- DDX47 p.Arg102Trp Uncertain significance Single submitter
- DDX47 p.Arg199Gln Uncertain significance Single submitter
- DDX47 p.Arg199Trp Uncertain significance Single submitter
- DDX47 p.Arg302Cys Uncertain significance Single submitter
- DDX47 p.Arg314His Uncertain significance Single submitter
- DDX47 p.Arg359Cys Uncertain significance Single submitter
- DDX47 p.Arg402Cys Uncertain significance Single submitter
- DDX47 p.Arg408Ser Uncertain significance Single submitter
- DDX47 p.Arg423His Uncertain significance Single submitter
- DDX47 p.Arg425Gln Uncertain significance Single submitter
- DDX47 p.Arg425Gly Uncertain significance Single submitter
- DDX47 p.Arg62His Uncertain significance Single submitter
- DDX47 p.Asn274Asp Uncertain significance Single submitter
- DDX47 p.Asn337Ser Uncertain significance Single submitter
- DDX47 p.Asn431Thr Uncertain significance Single submitter
- DDX47 p.Asp430Val Uncertain significance Single submitter
- DDX47 p.Gln111Arg Uncertain significance Single submitter
- DDX47 p.Gln15Pro Uncertain significance Single submitter
- DDX47 p.Gln216Arg Uncertain significance Single submitter
- DDX47 p.Gln392Glu Uncertain significance Single submitter
- DDX47 p.Glu395Gly Uncertain significance Single submitter
- DDX47 p.Glu416Asp Uncertain significance Single submitter
- DDX47 p.Glu5Lys Uncertain significance Single submitter
- DDX47 p.Gly358Arg Uncertain significance Single submitter
- DDX47 p.Gly439Ser Uncertain significance Single submitter
- DDX47 p.Gly447Arg Uncertain significance Single submitter
- DDX47 p.His380Gln Uncertain significance Single submitter
- DDX47 p.His380Tyr Uncertain significance Single submitter
- DDX47 p.His7Arg Uncertain significance Single submitter
- DDX47 p.Ile243Val Uncertain significance Single submitter
- DDX47 p.Ile52Thr Uncertain significance Single submitter
- DDX47 p.Ile65Phe Uncertain significance Single submitter
- DDX47 p.Leu303Gln Uncertain significance Single submitter
- DDX47 p.Leu318Ile Uncertain significance Single submitter
- DDX47 p.Leu399Pro Uncertain significance Single submitter
- DDX47 p.Lys190Arg Uncertain significance Single submitter
- DDX47 p.Lys421Arg Uncertain significance Single submitter
- DDX47 p.Lys448Asn Uncertain significance Single submitter
- DDX47 p.Met208Val Uncertain significance Single submitter
- DDX47 p.Pro330Thr Uncertain significance Single submitter
- DDX47 p.Ser298Arg Uncertain significance Single submitter
- DDX47 p.Ser424Leu Uncertain significance Single submitter
- DDX47 p.Ser424Thr Uncertain significance Single submitter
- DDX47 p.Val18Ala Uncertain significance Single submitter
- DDX47 p.Val212Ile Uncertain significance Single submitter
- DDX47 p.Val228Ile Uncertain significance Single submitter
- DDX47 p.Val396Ile Uncertain significance Single submitter
Predictors split 24
The independent predictors disagree with each other — read with care.
- DDX47 p.Ala140Thr Uncertain significance Single submitter
- DDX47 p.Arg314Cys Uncertain significance Single submitter
- DDX47 p.Arg377His Uncertain significance Single submitter
-
DDX47 p.Arg377Ser
Uncertain significance
Single submitter
intellectual disability
- DDX47 p.Arg402His Uncertain significance Single submitter
- DDX47 p.Arg408Lys Uncertain significance Single submitter
- DDX47 p.Arg411Gln Uncertain significance Single submitter
- DDX47 p.Arg455Cys Uncertain significance Single submitter
- DDX47 p.Arg92Cys Uncertain significance Single submitter
- DDX47 p.Asn159Asp Uncertain significance Single submitter
- DDX47 p.Asn285Ser Uncertain significance Single submitter
- DDX47 p.Asp394His Uncertain significance Single submitter
- DDX47 p.Gln277Glu Uncertain significance Single submitter
- DDX47 p.Gln407Glu Uncertain significance Single submitter
- DDX47 p.Glu185Ala Uncertain significance Single submitter
- DDX47 p.Glu236Gln Uncertain significance Single submitter
- DDX47 p.Glu236Gly Uncertain significance Single submitter
- DDX47 p.His331Arg Uncertain significance Single submitter
- DDX47 p.Ile257Thr Uncertain significance Single submitter
- DDX47 p.Lys24Glu Uncertain significance Single submitter
- DDX47 p.Phe409Leu Uncertain significance Single submitter
- DDX47 p.Ser123Arg Uncertain significance Single submitter
- DDX47 p.Ser324Thr Uncertain significance Single submitter
- DDX47 p.Thr272Ala Uncertain significance Single submitter
All DDX47 variants
Uncertain significance 82
- p.Ile364Val Multiple submitters ⚠
- p.Ala105Thr Single submitter ⚠
- p.Ala140Thr Single submitter ⚠
- p.Ala227Val Single submitter ⚠
- p.Ala262Ser Single submitter ⚠
- p.Ala38Val Single submitter ⚠
- p.Ala410Thr Single submitter
- p.Ala77Thr Single submitter ⚠
- p.Ala85Thr Single submitter ⚠
- p.Arg102Trp Single submitter ⚠
- p.Arg199Gln Single submitter ⚠
- p.Arg199Trp Single submitter ⚠
- p.Arg302Cys Single submitter ⚠
- p.Arg314Cys Single submitter ⚠
- p.Arg314His Single submitter ⚠
- p.Arg359Cys Single submitter ⚠
- p.Arg377His Single submitter ⚠
- p.Arg377Ser Single submitter intellectual disability ⚠
- p.Arg402Cys Single submitter ⚠
- p.Arg402His Single submitter ⚠
- p.Arg408Lys Single submitter ⚠
- p.Arg408Ser Single submitter ⚠
- p.Arg411Gln Single submitter ⚠
- p.Arg423His Single submitter ⚠
- p.Arg425Gln Single submitter ⚠
- p.Arg425Gly Single submitter ⚠
- p.Arg455Cys Single submitter ⚠
- p.Arg62His Single submitter ⚠
- p.Arg92Cys Single submitter ⚠
- p.Asn159Asp Single submitter ⚠
- p.Asn274Asp Single submitter ⚠
- p.Asn285Ser Single submitter ⚠
- p.Asn337Ser Single submitter ⚠
- p.Asn431Thr Single submitter ⚠
- p.Asp394His Single submitter ⚠
- p.Asp430Val Single submitter ⚠
- p.Gln111Arg Single submitter ⚠
- p.Gln15Pro Single submitter ⚠
- p.Gln216Arg Single submitter ⚠
- p.Gln277Glu Single submitter ⚠
- p.Gln392Glu Single submitter ⚠
- p.Gln407Glu Single submitter ⚠
- p.Glu185Ala Single submitter ⚠
- p.Glu236Gln Single submitter ⚠
- p.Glu236Gly Single submitter ⚠
- p.Glu395Gly Single submitter ⚠
- p.Glu416Asp Single submitter ⚠
- p.Glu5Lys Single submitter ⚠
- p.Gly358Arg Single submitter ⚠
- p.Gly439Ser Single submitter ⚠
- p.Gly447Arg Single submitter ⚠
- p.His331Arg Single submitter ⚠
- p.His380Gln Single submitter ⚠
- p.His380Tyr Single submitter ⚠
- p.His7Arg Single submitter ⚠
- p.Ile243Val Single submitter ⚠
- p.Ile257Thr Single submitter ⚠
- p.Ile52Thr Single submitter ⚠
- p.Ile65Phe Single submitter ⚠
- p.Leu303Gln Single submitter ⚠
- p.Leu318Ile Single submitter ⚠
- p.Leu399Pro Single submitter ⚠
- p.Lys190Arg Single submitter ⚠
- p.Lys210Glu Single submitter
- p.Lys24Glu Single submitter ⚠
- p.Lys421Arg Single submitter ⚠
- p.Lys448Asn Single submitter ⚠
- p.Met173Val Single submitter
- p.Met208Val Single submitter ⚠
- p.Met398Thr Single submitter
- p.Phe409Leu Single submitter ⚠
- p.Pro330Thr Single submitter ⚠
- p.Ser123Arg Single submitter ⚠
- p.Ser298Arg Single submitter ⚠
- p.Ser324Thr Single submitter ⚠
- p.Ser424Leu Single submitter ⚠
- p.Ser424Thr Single submitter ⚠
- p.Thr272Ala Single submitter ⚠
- p.Val18Ala Single submitter ⚠
- p.Val212Ile Single submitter ⚠
- p.Val228Ile Single submitter ⚠
- p.Val396Ile Single submitter ⚠