DDX20 — 65 ClinVar variants
All ClinVar germline DDX20 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 55 flagged for review →
1 Benign · 7 Likely benign · 57 Uncertain significance
Full DDX20 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 55
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 51
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- DDX20 p.Ala10Thr Uncertain significance Single submitter
- DDX20 p.Ala12Val Uncertain significance Single submitter
- DDX20 p.Ala2Gly Uncertain significance Single submitter
- DDX20 p.Ala326Val Uncertain significance Single submitter
- DDX20 p.Ala336Asp Uncertain significance Single submitter
- DDX20 p.Ala375Thr Uncertain significance Single submitter
- DDX20 p.Ala791Thr Uncertain significance Single submitter
- DDX20 p.Ala7Ser Uncertain significance Single submitter
- DDX20 p.Arg348His Uncertain significance Single submitter
- DDX20 p.Arg730Gly Uncertain significance Single submitter
- DDX20 p.Arg741Trp Uncertain significance Single submitter
- DDX20 p.Arg84Ser Uncertain significance Single submitter
- DDX20 p.Asp211Glu Uncertain significance Single submitter
- DDX20 p.Asp260Asn Uncertain significance Single submitter
- DDX20 p.Gln427His Uncertain significance Single submitter
- DDX20 p.Gln486Arg Uncertain significance Single submitter
- DDX20 p.Gln718Pro Uncertain significance Single submitter
- DDX20 p.Glu127Lys Uncertain significance Single submitter
- DDX20 p.Glu523Lys Uncertain significance Single submitter
- DDX20 p.Glu544Ala Uncertain significance Single submitter
- DDX20 p.Glu774Lys Uncertain significance Single submitter
- DDX20 p.Gly35Val Uncertain significance Single submitter
- DDX20 p.His299Asn Uncertain significance Single submitter
- DDX20 p.His395Arg Uncertain significance Single submitter
- DDX20 p.His793Leu Uncertain significance Single submitter
- DDX20 p.His793Tyr Uncertain significance Single submitter
- DDX20 p.His821Asn Uncertain significance Single submitter
- DDX20 p.His821Tyr Uncertain significance Single submitter
- DDX20 p.Leu126Val Uncertain significance Single submitter
- DDX20 p.Leu273His Uncertain significance Single submitter
- DDX20 p.Leu329Pro Uncertain significance Single submitter
-
DDX20 p.Leu746Ser
Uncertain significance
Single submitter
amyotrophic lateral sclerosis
- DDX20 p.Lys456Arg Uncertain significance Single submitter
- DDX20 p.Lys634Asn Uncertain significance Single submitter
- DDX20 p.Lys668Asn Uncertain significance Single submitter
- DDX20 p.Met18Leu Uncertain significance Single submitter
- DDX20 p.Phe744Leu Uncertain significance Single submitter
- DDX20 p.Pro202Ala Uncertain significance Single submitter
- DDX20 p.Pro533Ser Uncertain significance Single submitter
- DDX20 p.Pro61Leu Uncertain significance Single submitter
- DDX20 p.Pro61Ser Uncertain significance Single submitter
- DDX20 p.Pro739Ser Uncertain significance Single submitter
- DDX20 p.Ser305Gly Uncertain significance Single submitter
- DDX20 p.Ser677Pro Uncertain significance Single submitter
- DDX20 p.Ser767Pro Uncertain significance Single submitter
- DDX20 p.Ser792Tyr Uncertain significance Single submitter
- DDX20 p.Thr558Ile Uncertain significance Single submitter
- DDX20 p.Thr813Ala Uncertain significance Single submitter
- DDX20 p.Tyr279Phe Uncertain significance Single submitter
- DDX20 p.Val264Ile Uncertain significance Single submitter
- DDX20 p.Val459Leu Uncertain significance Single submitter
Predictors split 4
The independent predictors disagree with each other — read with care.
All DDX20 variants
Benign 1
- p.Ala592Asp Multiple submitters
Likely benign 7
- p.Ala137Gly Single submitter
- p.Ala13Thr Single submitter
- p.Ala790= Single submitter
- p.Asn559Ser Single submitter
- p.Gly167= Single submitter
- p.Met423del Single submitter
- p.Val282Ile Single submitter
Uncertain significance 57
- p.Ala10Thr Single submitter ⚠
- p.Ala12Val Single submitter ⚠
- p.Ala2Gly Single submitter ⚠
- p.Ala326Val Single submitter ⚠
- p.Ala336Asp Single submitter ⚠
- p.Ala375Thr Single submitter ⚠
- p.Ala791Thr Single submitter ⚠
- p.Ala7Ser Single submitter ⚠
- p.Arg348His Single submitter ⚠
- p.Arg730Gly Single submitter ⚠
- p.Arg741Trp Single submitter ⚠
- p.Arg84Ser Single submitter ⚠
- p.Asp211Glu Single submitter ⚠
- p.Asp260Asn Single submitter ⚠
- p.Cys114Ser Single submitter ⚠
- p.Gln427His Single submitter ⚠
- p.Gln486Arg Single submitter ⚠
- p.Gln718Pro Single submitter ⚠
- p.Glu127Lys Single submitter ⚠
- p.Glu523Lys Single submitter ⚠
- p.Glu544Ala Single submitter ⚠
- p.Glu774Lys Single submitter ⚠
- p.Gly35Val Single submitter ⚠
- p.Gly605Arg Single submitter ⚠
- p.His299Asn Single submitter ⚠
- p.His395Arg Single submitter ⚠
- p.His793Leu Single submitter ⚠
- p.His793Tyr Single submitter ⚠
- p.His821Asn Single submitter ⚠
- p.His821Tyr Single submitter ⚠
- p.Ile613Thr Single submitter
- p.Leu126Val Single submitter ⚠
- p.Leu273His Single submitter ⚠
- p.Leu329Pro Single submitter ⚠
- p.Leu746Ser Single submitter amyotrophic lateral sclerosis ⚠
- p.Lys456Arg Single submitter ⚠
- p.Lys634Asn Single submitter ⚠
- p.Lys668Asn Single submitter ⚠
- p.Lys91Met Single submitter
- p.Met18Leu Single submitter ⚠
- p.Phe403Val Single submitter ⚠
- p.Phe744Leu Single submitter ⚠
- p.Pro202Ala Single submitter ⚠
- p.Pro437Leu Single submitter ⚠
- p.Pro533Ser Single submitter ⚠
- p.Pro61Leu Single submitter ⚠
- p.Pro61Ser Single submitter ⚠
- p.Pro739Ser Single submitter ⚠
- p.Ser305Gly Single submitter ⚠
- p.Ser677Pro Single submitter ⚠
- p.Ser767Pro Single submitter ⚠
- p.Ser792Tyr Single submitter ⚠
- p.Thr558Ile Single submitter ⚠
- p.Thr813Ala Single submitter ⚠
- p.Tyr279Phe Single submitter ⚠
- p.Val264Ile Single submitter ⚠
- p.Val459Leu Single submitter ⚠