DDX51 — 156 ClinVar variants

All ClinVar germline DDX51 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 142 flagged for review →

1 Benign · 15 Likely benign · 140 Uncertain significance

Full DDX51 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 142

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 61

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 81

The independent predictors disagree with each other — read with care.

All DDX51 variants

Benign 1

p.Phe266= Single submitter

Likely benign 15

p.Gly542= Multiple submitters
p.Ala626Val Single submitter ⚠
p.Arg248Gln Single submitter
p.Asn104Ser Single submitter
p.Glu575Gln Single submitter
p.Gly460Ser Single submitter
p.Gly468Arg Single submitter
p.Ile369Val Single submitter
p.Leu405Phe Single submitter ⚠
p.Leu461Pro Single submitter
p.Pro62= Single submitter
p.Pro81Ser Single submitter
p.Ser505= Single submitter
p.Thr562= Single submitter
p.Val495Ile Single submitter

Uncertain significance 140

p.Ala107Ser Single submitter ⚠
p.Ala119Val Single submitter ⚠
p.Ala141Thr Single submitter ⚠
p.Ala144Thr Single submitter ⚠
p.Ala183Pro Single submitter ⚠
p.Ala237Pro Single submitter ⚠
p.Ala25Thr Single submitter ⚠
p.Ala273Thr Single submitter ⚠
p.Ala27Thr Single submitter ⚠
p.Ala2Gly Single submitter ⚠
p.Ala390Val Single submitter ⚠
p.Ala392Thr Single submitter ⚠
p.Ala399Pro Single submitter ⚠
p.Ala399Val Single submitter ⚠
p.Ala403Ser Single submitter ⚠
p.Ala410Val Single submitter ⚠
p.Ala416Thr Single submitter ⚠
p.Ala457Val Single submitter ⚠
p.Ala564Thr Single submitter ⚠
p.Ala57Gly Single submitter ⚠
p.Ala582Thr Single submitter ⚠
p.Arg169Lys Single submitter ⚠
p.Arg180Gly Single submitter ⚠
p.Arg248Trp Single submitter ⚠
p.Arg283Cys Single submitter ⚠
p.Arg32Cys Single submitter ⚠
p.Arg32His Single submitter ⚠
p.Arg366Cys Single submitter ⚠
p.Arg375Gln Single submitter ⚠
p.Arg387Gln Single submitter ⚠
p.Arg387Trp Single submitter ⚠
p.Arg407Gln Single submitter ⚠
p.Arg408Ser Single submitter ⚠
p.Arg43Cys Single submitter ⚠
p.Arg49Gly Single submitter ⚠
p.Arg506Thr Single submitter ⚠
p.Arg514Gln Single submitter ⚠
p.Arg538Cys Single submitter ⚠
p.Arg592Trp Single submitter ⚠
p.Arg631Trp Single submitter ⚠
p.Arg645Gln Single submitter ⚠
p.Arg72Gly Single submitter ⚠
p.Asp13Val Single submitter ⚠
p.Asp195Asn Single submitter ⚠
p.Asp201Asn Single submitter ⚠
p.Asp355Tyr Single submitter ⚠
p.Asp371Asn Single submitter ⚠
p.Asp463His Single submitter ⚠
p.Asp581Asn Single submitter ⚠
p.Gln212His Single submitter ⚠
p.Gln330Lys Single submitter ⚠
p.Gln363His Single submitter ⚠
p.Gln406Glu Single submitter ⚠
p.Gln436Glu Single submitter ⚠
p.Gln436Pro Single submitter ⚠
p.Glu102Gly Single submitter ⚠
p.Glu110Gly Single submitter ⚠
p.Glu122Asp Single submitter ⚠
p.Glu234Gly Single submitter ⚠
p.Glu36Lys Single submitter ⚠
p.Glu462Gly Single submitter ⚠
p.Glu501Asp Single submitter ⚠
p.Glu515Lys Single submitter ⚠
p.Glu61Gln Single submitter ⚠
p.Glu61Lys Single submitter ⚠
p.Glu633Lys Single submitter ⚠
p.Glu647Lys Single submitter ⚠
p.Glu80Asp Single submitter ⚠
p.Gly133Ala Single submitter ⚠
p.Gly164Ala Single submitter ⚠
p.Gly165Arg Single submitter ⚠
p.Gly167Arg Single submitter ⚠
p.Gly19Glu Single submitter ⚠
p.Gly217Ser Single submitter ⚠
p.Gly243Ser Single submitter ⚠
p.Gly29Asp Single submitter ⚠
p.Gly455Arg Single submitter ⚠
p.Gly460Cys Single submitter ⚠
p.Gly528Glu Single submitter ⚠
p.Gly540Arg Single submitter ⚠
p.His206Tyr Single submitter ⚠
p.His281Asn Single submitter ⚠
p.His447Arg Single submitter ⚠
p.His482Tyr Single submitter ⚠
p.Ile342Val Single submitter ⚠
p.Ile547Asn Single submitter ⚠
p.Ile556Met Single submitter ⚠
p.Leu157Val Single submitter ⚠
p.Leu209Val Single submitter ⚠
p.Leu498Val Single submitter ⚠
p.Leu523Arg Single submitter ⚠
p.Leu523Val Single submitter ⚠
p.Leu558Met Single submitter ⚠
p.Leu608Val Single submitter ⚠
p.Met423Ile Single submitter ⚠
p.Phe166Leu Single submitter ⚠
p.Phe301Leu Single submitter ⚠
p.Phe527Val Single submitter ⚠
p.Pro12His Single submitter ⚠
p.Pro156Leu Single submitter ⚠
p.Pro156Thr Single submitter ⚠
p.Pro176Arg Single submitter ⚠
p.Pro198Leu Single submitter ⚠
p.Pro203Ala Single submitter ⚠
p.Pro20Leu Single submitter ⚠
p.Pro20Ser Single submitter ⚠
p.Pro230Ser Single submitter ⚠
p.Pro249Ser Single submitter ⚠
p.Pro309Leu Single submitter ⚠
p.Pro386Leu Single submitter ⚠
p.Pro401Arg Single submitter ⚠
p.Pro438Ala Single submitter ⚠
p.Pro627Ser Single submitter ⚠
p.Pro641Leu Single submitter ⚠
p.Pro70Ser Single submitter ⚠
p.Pro81Leu Single submitter ⚠
p.Ser112Asn Single submitter ⚠
p.Ser136Gly Single submitter ⚠
p.Ser138Thr Single submitter ⚠
p.Ser140Cys Single submitter ⚠
p.Ser40Asn Single submitter ⚠
p.Ser470Leu Single submitter ⚠
p.Ser536Phe Single submitter ⚠
p.Ser635Phe Single submitter ⚠
p.Thr263Ala Single submitter ⚠
p.Thr305Ala Single submitter ⚠
p.Thr316Met Single submitter ⚠
p.Thr588Ile Single submitter ⚠
p.Thr602Ser Single submitter ⚠
p.Tyr247Cys Single submitter ⚠
p.Tyr483Cys Single submitter ⚠
p.Val300Leu Single submitter ⚠
p.Val329Leu Single submitter ⚠
p.Val329Phe Single submitter ⚠
p.Val413Met Single submitter ⚠
p.Val499Gly Single submitter ⚠
p.Val532Met Single submitter ⚠
p.Val571Met Single submitter ⚠
p.Val590Met Single submitter ⚠
p.Val593Leu Single submitter ⚠