DDX21 — 90 ClinVar variants

All ClinVar germline DDX21 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 73 flagged for review →

1 Benign · 1 Benign/Likely benign · 8 Likely benign · 80 Uncertain significance

Full DDX21 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 73

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 62

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

Predictors split 11

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

All DDX21 variants

Benign 1

p.Lys224Arg Single submitter

Benign/Likely benign 1

p.Phe674= Multiple submitters

Likely benign 8

p.Arg144Gly Single submitter
p.Arg304= Single submitter
p.Gln642Arg Single submitter
p.Glu176Asp Single submitter
p.Pro155Ser Single submitter
p.Pro159Leu Single submitter
p.Ser751Asn Single submitter
p.Thr407= Single submitter

Uncertain significance 80

p.Lys224Asn Multiple submitters ⚠
p.Ala187Asp Single submitter ⚠
p.Ala187Thr Single submitter ⚠
p.Ala241Thr Single submitter
p.Ala260Val Single submitter ⚠
p.Ala653Val Single submitter ⚠
p.Arg304Cys Single submitter ⚠
p.Arg304His Single submitter ⚠
p.Arg718Trp Single submitter ⚠
p.Arg748Gln Single submitter ⚠
p.Arg758Gln Single submitter ⚠
p.Arg767Ile Single submitter ⚠
p.Arg96Thr Single submitter ⚠
p.Asn190His Single submitter ⚠
p.Asn384Ser Single submitter ⚠
p.Asn495Ser Single submitter ⚠
p.Asn86Ser Single submitter ⚠
p.Asp346Ala Single submitter ⚠
p.Asp364Gly Single submitter ⚠
p.Asp39Gly Single submitter ⚠
p.Asp39Tyr Single submitter ⚠
p.Asp68Tyr Single submitter ⚠
p.Gln275fs Single submitter
p.Gln452Arg Single submitter ⚠
p.Gln554Glu Single submitter ⚠
p.Gln596Glu Single submitter ⚠
p.Gln727Glu Single submitter ⚠
p.Glu103Gly Single submitter ⚠
p.Glu12Lys Single submitter ⚠
p.Glu34fs Single submitter
p.Glu659Val Single submitter ⚠
p.Glu663Lys Single submitter ⚠
p.Glu66Asp Single submitter ⚠
p.Glu719Gln Single submitter ⚠
p.Glu729Lys Single submitter ⚠
p.Glu82Lys Single submitter ⚠
p.Gly223Arg Single submitter
p.Gly439Arg Single submitter ⚠
p.Gly532Glu Single submitter ⚠
p.Gly557Ter Single submitter
p.Gly740Arg Single submitter ⚠
p.Gly761Asp Single submitter ⚠
p.His218Arg Single submitter ⚠
p.His543Tyr Single submitter ⚠
p.His698Arg Single submitter ⚠
p.Ile175Thr Single submitter ⚠
p.Ile212Val Single submitter ⚠
p.Ile558Val Single submitter ⚠
p.Ile563Met Single submitter ⚠
p.Ile572Val Single submitter ⚠
p.Ile645Val Single submitter ⚠
p.Ile650Val Single submitter ⚠
p.Leu150Pro Single submitter ⚠
p.Lys113Asn Single submitter ⚠
p.Lys285Glu Single submitter ⚠
p.Lys320Thr Single submitter ⚠
p.Lys676Arg Single submitter ⚠
p.Met133Leu Single submitter ⚠
p.Met133Thr Single submitter ⚠
p.Met305Val Single submitter ⚠
p.Phe280Leu Single submitter ⚠
p.Phe744Leu Single submitter ⚠
p.Pro192His Single submitter ⚠
p.Ser168Arg Single submitter ⚠
p.Ser171Asn Single submitter ⚠
p.Ser513Phe Single submitter ⚠
p.Ser623Tyr Single submitter ⚠
p.Ser706Cys Single submitter ⚠
p.Ser731Thr Single submitter ⚠
p.Ser776Asn Single submitter ⚠
p.Thr404Pro Single submitter ⚠
p.Thr534Met Single submitter ⚠
p.Thr687Ala Single submitter ⚠
p.Thr687Ile Single submitter ⚠
p.Tyr389Phe Single submitter ⚠
p.Tyr434His Single submitter
p.Tyr721Cys Single submitter ⚠
p.Val341Ala Single submitter ⚠
p.Val565Phe Single submitter
p.Val707Met Single submitter ⚠