DRD1 — 40 ClinVar variants
All ClinVar germline DRD1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 34 flagged for review →
1 Conflicting · 3 Benign · 3 Likely benign · 33 Uncertain significance
Full DRD1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 34
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 agree, ClinVar conflicts 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
DRD1 p.Thr37Met
Conflicting
Single submitter
parkinsonism-dystonia, infantile
Predictors lean, ClinVar uncertain 27
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- DRD1 p.Ala147Thr Uncertain significance Single submitter
- DRD1 p.Ala166Thr Uncertain significance Single submitter
- DRD1 p.Ala410Ser Uncertain significance Single submitter
- DRD1 p.Ala67Ser Uncertain significance Single submitter
- DRD1 p.Arg52Pro Uncertain significance Single submitter
- DRD1 p.Asn185Lys Uncertain significance Single submitter
- DRD1 p.Cys253Ser Uncertain significance Single submitter
- DRD1 p.Glu17Val Uncertain significance Single submitter
- DRD1 p.Glu405Gly Uncertain significance Single submitter
- DRD1 p.Glu414Lys Uncertain significance Single submitter
- DRD1 p.Gly396Val Uncertain significance Single submitter
- DRD1 p.Gly442Ser Uncertain significance Single submitter
- DRD1 p.His393Arg Uncertain significance Single submitter
- DRD1 p.Ile157Val Uncertain significance Single submitter
- DRD1 p.Ile183Val Uncertain significance Single submitter
- DRD1 p.Ile409Thr Uncertain significance Single submitter
- DRD1 p.Lys402Arg Uncertain significance Single submitter
- DRD1 p.Pro137Ser Uncertain significance Single submitter
- DRD1 p.Pro352Ser Uncertain significance Single submitter
- DRD1 p.Ser145Gly Uncertain significance Single submitter
- DRD1 p.Ser263Pro Uncertain significance Single submitter
- DRD1 p.Ser310Phe Uncertain significance Single submitter
- DRD1 p.Thr182Ala Uncertain significance Single submitter
- DRD1 p.Thr354Ala Uncertain significance Single submitter
- DRD1 p.Thr446Ala Uncertain significance Single submitter
- DRD1 p.Val430Ile Uncertain significance Single submitter
- DRD1 p.Val75Ile Uncertain significance Single submitter
Predictors split 6
The independent predictors disagree with each other — read with care.
- DRD1 p.Cys347Tyr Uncertain significance Single submitter
- DRD1 p.Ile217Val Uncertain significance Single submitter
- DRD1 p.Ile308Met Uncertain significance Single submitter
- DRD1 p.Ser254Cys Uncertain significance Single submitter
- DRD1 p.Thr303Met Uncertain significance Single submitter
- DRD1 p.Val15Met Uncertain significance Single submitter
All DRD1 variants
Conflicting classifications of pathogenicity 1
- p.Thr37Met Single submitter parkinsonism-dystonia, infantile ⚠
Uncertain significance 33
- p.Ala147Thr Single submitter ⚠
- p.Ala166Thr Single submitter ⚠
- p.Ala410Ser Single submitter ⚠
- p.Ala67Ser Single submitter ⚠
- p.Arg52Pro Single submitter ⚠
- p.Asn185Lys Single submitter ⚠
- p.Cys253Ser Single submitter ⚠
- p.Cys347Tyr Single submitter ⚠
- p.Glu17Val Single submitter ⚠
- p.Glu405Gly Single submitter ⚠
- p.Glu414Lys Single submitter ⚠
- p.Gly396Val Single submitter ⚠
- p.Gly442Ser Single submitter ⚠
- p.His393Arg Single submitter ⚠
- p.Ile157Val Single submitter ⚠
- p.Ile183Val Single submitter ⚠
- p.Ile217Val Single submitter ⚠
- p.Ile308Met Single submitter ⚠
- p.Ile409Thr Single submitter ⚠
- p.Lys402Arg Single submitter ⚠
- p.Pro137Ser Single submitter ⚠
- p.Pro352Ser Single submitter ⚠
- p.Ser145Gly Single submitter ⚠
- p.Ser254Cys Single submitter ⚠
- p.Ser263Pro Single submitter ⚠
- p.Ser310Phe Single submitter ⚠
- p.Thr182Ala Single submitter ⚠
- p.Thr303Met Single submitter ⚠
- p.Thr354Ala Single submitter ⚠
- p.Thr446Ala Single submitter ⚠
- p.Val15Met Single submitter ⚠
- p.Val430Ile Single submitter ⚠
- p.Val75Ile Single submitter ⚠