DALRD3 — 101 ClinVar variants
All ClinVar germline DALRD3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 74 flagged for review →
1 Likely pathogenic · 1 Conflicting · 3 Benign · 13 Likely benign · 83 Uncertain significance
Full DALRD3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 74
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 58
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- DALRD3 p.Ala109Ser Uncertain significance Single submitter
- DALRD3 p.Ala149Ser Uncertain significance Single submitter
- DALRD3 p.Ala14Pro Uncertain significance Single submitter
- DALRD3 p.Ala14Ser Uncertain significance Single submitter
- DALRD3 p.Ala152Val Uncertain significance Single submitter
- DALRD3 p.Ala345Ser Uncertain significance Single submitter
- DALRD3 p.Ala345Val Uncertain significance Single submitter
- DALRD3 p.Ala79Thr Uncertain significance Single submitter
- DALRD3 p.Arg158Gly Uncertain significance Single submitter
- DALRD3 p.Arg164Trp Uncertain significance Single submitter
-
DALRD3 p.Arg409Cys
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 86
- DALRD3 p.Arg409His Uncertain significance Single submitter
- DALRD3 p.Arg478Cys Uncertain significance Single submitter
- DALRD3 p.Arg499Gln Uncertain significance Single submitter
- DALRD3 p.Arg499Trp Uncertain significance Single submitter
-
DALRD3 p.Arg517Cys
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 86
- DALRD3 p.Arg5Pro Uncertain significance Single submitter
- DALRD3 p.Arg97Ser Uncertain significance Single submitter
- DALRD3 p.Asp165His Uncertain significance Single submitter
- DALRD3 p.Cys285Arg Uncertain significance Single submitter
- DALRD3 p.Gln380Arg Uncertain significance Single submitter
- DALRD3 p.Glu223Lys Uncertain significance Single submitter
- DALRD3 p.Glu260Lys Uncertain significance Single submitter
- DALRD3 p.Glu422Lys Uncertain significance Single submitter
- DALRD3 p.Gly115Ala Uncertain significance Single submitter
- DALRD3 p.Gly23Asp Uncertain significance Single submitter
- DALRD3 p.Gly512Ala Uncertain significance Single submitter
- DALRD3 p.Gly9Val Uncertain significance Single submitter
- DALRD3 p.His348Tyr Uncertain significance Single submitter
- DALRD3 p.His529Arg Uncertain significance Single submitter
- DALRD3 p.Leu387Val Uncertain significance Single submitter
- DALRD3 p.Leu449Arg Uncertain significance Single submitter
- DALRD3 p.Leu47Val Uncertain significance Single submitter
- DALRD3 p.Leu489Arg Uncertain significance Single submitter
- DALRD3 p.Leu537Val Uncertain significance Single submitter
- DALRD3 p.Met404Lys Uncertain significance Single submitter
- DALRD3 p.Met421Ile Uncertain significance Single submitter
- DALRD3 p.Phe450Ser Uncertain significance Single submitter
- DALRD3 p.Pro129Arg Uncertain significance Single submitter
- DALRD3 p.Pro129Leu Uncertain significance Single submitter
- DALRD3 p.Pro129Ser Uncertain significance Single submitter
- DALRD3 p.Pro43Leu Uncertain significance Single submitter
- DALRD3 p.Pro455Leu Uncertain significance Single submitter
- DALRD3 p.Pro471Leu Uncertain significance Single submitter
- DALRD3 p.Pro538Ser Uncertain significance Single submitter
- DALRD3 p.Pro539Gln Uncertain significance Single submitter
- DALRD3 p.Pro80Ser Uncertain significance Single submitter
- DALRD3 p.Ser110Pro Uncertain significance Single submitter
- DALRD3 p.Ser188Phe Uncertain significance Single submitter
- DALRD3 p.Ser246Phe Uncertain significance Single submitter
- DALRD3 p.Ser416Asn Uncertain significance Single submitter
- DALRD3 p.Ser434Asn Uncertain significance Single submitter
- DALRD3 p.Thr274Pro Uncertain significance Single submitter
- DALRD3 p.Thr359Ala Uncertain significance Single submitter
- DALRD3 p.Thr394Met Uncertain significance Single submitter
- DALRD3 p.Val163Leu Uncertain significance Single submitter
- DALRD3 p.Val247Ala Uncertain significance Single submitter
- DALRD3 p.Val247Met Uncertain significance Single submitter
Predictors split 16
The independent predictors disagree with each other — read with care.
- DALRD3 p.Arg336Gln Uncertain significance Single submitter
- DALRD3 p.Arg336Trp Uncertain significance Single submitter
- DALRD3 p.Arg507Gln Uncertain significance Single submitter
- DALRD3 p.Asp144Asn Uncertain significance Single submitter
- DALRD3 p.Gly444Arg Uncertain significance Single submitter
- DALRD3 p.His311Leu Uncertain significance Single submitter
- DALRD3 p.His348Arg Uncertain significance Single submitter
- DALRD3 p.Leu12Pro Uncertain significance Single submitter
- DALRD3 p.Leu199Arg Uncertain significance Single submitter
- DALRD3 p.Leu244Pro Uncertain significance Single submitter
- DALRD3 p.Leu67Arg Uncertain significance Single submitter
- DALRD3 p.Phe289Leu Uncertain significance Single submitter
- DALRD3 p.Pro259Leu Uncertain significance Single submitter
- DALRD3 p.Pro74Leu Uncertain significance Single submitter
- DALRD3 p.Tyr426Phe Uncertain significance Single submitter
- DALRD3 p.Val25Ala Uncertain significance Single submitter
All DALRD3 variants
Likely pathogenic 1
- p.Gln299Ter Single submitter developmental and epileptic encephalopathy, 86
Conflicting classifications of pathogenicity 1
- p.Tyr417Ter Single submitter developmental and epileptic encephalopathy, 86
Benign 3
- c.1512+18T>C Multiple submitters
- p.Gln299Arg Multiple submitters
- p.Val364Ile Single submitter
Likely benign 13
- p.Ala83= Single submitter
- p.Gly276Ser Single submitter
- p.Gly9= Single submitter
- p.His194Arg Single submitter
- p.Leu150= Single submitter
- p.Leu159= Single submitter
- p.Leu440= Single submitter
- p.Leu85= Single submitter
- p.Pro259= Single submitter
- p.Ser113Leu Single submitter
- p.Thr32= Single submitter
- p.Thr81= Single submitter
- p.Val140= Single submitter
Uncertain significance 83
- c.1329+1G>A Single submitter
- c.-5T>C Single submitter DALRD3-related disorder
- p.Ala109Ser Single submitter ⚠
- p.Ala149Ser Single submitter ⚠
- p.Ala14Pro Single submitter ⚠
- p.Ala14Ser Single submitter ⚠
- p.Ala152Val Single submitter ⚠
- p.Ala345Ser Single submitter ⚠
- p.Ala345Val Single submitter ⚠
- p.Ala79Thr Single submitter ⚠
- p.Arg158Gly Single submitter ⚠
- p.Arg164Trp Single submitter ⚠
- p.Arg336Gln Single submitter ⚠
- p.Arg336Trp Single submitter ⚠
- p.Arg409Cys Single submitter developmental and epileptic encephalopathy, 86 ⚠
- p.Arg409His Single submitter ⚠
- p.Arg478Cys Single submitter ⚠
- p.Arg499Gln Single submitter ⚠
- p.Arg499Trp Single submitter ⚠
- p.Arg507Gln Single submitter ⚠
- p.Arg517Cys Single submitter developmental and epileptic encephalopathy, 86 ⚠
- p.Arg5Pro Single submitter ⚠
- p.Arg97Ser Single submitter ⚠
- p.Asn234fs Single submitter
- p.Asp144Asn Single submitter ⚠
- p.Asp165His Single submitter ⚠
- p.Cys285Arg Single submitter ⚠
- p.Gln339His Single submitter
- p.Gln380Arg Single submitter ⚠
- p.Gln380fs Single submitter developmental and epileptic encephalopathy, 86
- p.Glu223Lys Single submitter ⚠
- p.Glu260Lys Single submitter ⚠
- p.Glu415_Ser416insArg Single submitter developmental and epileptic encephalopathy, 86
- p.Glu422Lys Single submitter ⚠
- p.Glu443Lys Single submitter
- p.Gly115Ala Single submitter ⚠
- p.Gly23Asp Single submitter ⚠
- p.Gly444Arg Single submitter ⚠
- p.Gly512Ala Single submitter ⚠
- p.Gly71Val Single submitter
- p.Gly9Val Single submitter ⚠
- p.His311Leu Single submitter ⚠
- p.His348Arg Single submitter ⚠
- p.His348Tyr Single submitter ⚠
- p.His529Arg Single submitter ⚠
- p.Leu12Pro Single submitter ⚠
- p.Leu199Arg Single submitter ⚠
- p.Leu244Pro Single submitter ⚠
- p.Leu296Gln Single submitter
- p.Leu387Val Single submitter ⚠
- p.Leu449Arg Single submitter ⚠
- p.Leu47Val Single submitter ⚠
- p.Leu489Arg Single submitter ⚠
- p.Leu537Val Single submitter ⚠
- p.Leu67Arg Single submitter ⚠
- p.Met404Lys Single submitter ⚠
- p.Met421Ile Single submitter ⚠
- p.Phe289Leu Single submitter ⚠
- p.Phe450Ser Single submitter ⚠
- p.Pro129Arg Single submitter ⚠
- p.Pro129Leu Single submitter ⚠
- p.Pro129Ser Single submitter ⚠
- p.Pro259Leu Single submitter ⚠
- p.Pro43Leu Single submitter ⚠
- p.Pro455Leu Single submitter ⚠
- p.Pro471Leu Single submitter ⚠
- p.Pro538Ser Single submitter ⚠
- p.Pro539Gln Single submitter ⚠
- p.Pro74Leu Single submitter ⚠
- p.Pro80Ser Single submitter ⚠
- p.Ser110Pro Single submitter ⚠
- p.Ser188Phe Single submitter ⚠
- p.Ser246Phe Single submitter ⚠
- p.Ser416Asn Single submitter ⚠
- p.Ser434Asn Single submitter ⚠
- p.Thr274Pro Single submitter ⚠
- p.Thr359Ala Single submitter ⚠
- p.Thr394Met Single submitter ⚠
- p.Tyr426Phe Single submitter ⚠
- p.Val163Leu Single submitter ⚠
- p.Val247Ala Single submitter ⚠
- p.Val247Met Single submitter ⚠
- p.Val25Ala Single submitter ⚠