DRD2 — 164 ClinVar variants
All ClinVar germline DRD2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 68 flagged for review →
4 Conflicting · 44 Benign · 5 Benign/Likely benign · 45 Likely benign · 66 Uncertain significance
Full DRD2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 68
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 2
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
DRD2 p.Ala64Val
Conflicting
Single submitter
dystonic disorder
-
DRD2 p.Pro310Ser
Conflicting
Single submitter
DRD2-associated Dystonia
Predictors lean, ClinVar uncertain 39
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
DRD2 p.Arg274Gln
Uncertain significance
Multiple submitters
dystonic disorder
-
DRD2 p.Gln366Lys
Uncertain significance
Multiple submitters
dystonic disorder
-
DRD2 p.Gly261Arg
Uncertain significance
Multiple submitters
dystonic disorder
-
DRD2 p.His316Pro
Uncertain significance
Multiple submitters
dystonic disorder
-
DRD2 p.Ile431Thr
Uncertain significance
Multiple submitters
dystonic disorder
-
DRD2 p.Pro300His
Uncertain significance
Multiple submitters
dystonic disorder
- DRD2 p.Val223Ile Uncertain significance Multiple submitters
-
DRD2 p.Ala177Thr
Uncertain significance
Single submitter
dystonic disorder
-
DRD2 p.Ala323Thr
Uncertain significance
Single submitter
dystonic disorder
-
DRD2 p.Ala376Pro
Uncertain significance
Single submitter
dystonic disorder
-
DRD2 p.Ala38Val
Uncertain significance
Single submitter
dystonic disorder
- DRD2 p.Ala46Thr Uncertain significance Single submitter
- DRD2 p.Arg20Trp Uncertain significance Single submitter
-
DRD2 p.Arg219Cys
Uncertain significance
Single submitter
dystonic disorder
-
DRD2 p.Arg294Gln
Uncertain significance
Single submitter
dystonic disorder
- DRD2 p.Arg61Cys Uncertain significance Single submitter
-
DRD2 p.Asn176Asp
Uncertain significance
Single submitter
dystonic disorder
- DRD2 p.Asn348Ser Uncertain significance Single submitter
- DRD2 p.Asn35His Uncertain significance Single submitter
-
DRD2 p.Asp309Asn
Uncertain significance
Single submitter
dystonic disorder
- DRD2 p.Asp30Asn Uncertain significance Single submitter
- DRD2 p.Asp320Asn Uncertain significance Single submitter
- DRD2 p.Asp400Glu Uncertain significance Single submitter
-
DRD2 p.Gln179Arg
Uncertain significance
Single submitter
dystonic disorder
- DRD2 p.Glu181Asp Uncertain significance Single submitter
-
DRD2 p.Gly51Ser
Uncertain significance
Single submitter
dystonic disorder
- DRD2 p.Ile256Val Uncertain significance Single submitter
- DRD2 p.Leu123Val Uncertain significance Single submitter
- DRD2 p.Leu315Phe Uncertain significance Single submitter
-
DRD2 p.Met374Arg
Uncertain significance
Single submitter
dystonic disorder
- DRD2 p.Pro264Leu Uncertain significance Single submitter
- DRD2 p.Pro310Leu Uncertain significance Single submitter
-
DRD2 p.Pro319Ala
Uncertain significance
Single submitter
dystonic disorder
-
DRD2 p.Pro347Ser
Uncertain significance
Single submitter
dystonic disorder
- DRD2 p.Pro404Leu Uncertain significance Single submitter
- DRD2 p.Thr144Met Uncertain significance Single submitter
- DRD2 p.Thr293Ile Uncertain significance Single submitter
-
DRD2 p.Val154Ile
Uncertain significance
Single submitter
dystonic disorder
-
DRD2 p.Val97Ile
Uncertain significance
Single submitter
dystonic disorder
Predictors split 27
The independent predictors disagree with each other — read with care.
-
DRD2 p.Glu99Lys
Uncertain significance
Multiple submitters
dystonic disorder
-
DRD2 p.Ser311Cys
Benign
Multiple submitters
dystonic disorder
-
DRD2 p.Ala127Val
Uncertain significance
Single submitter
dystonic disorder
-
DRD2 p.Ala276Pro
Uncertain significance
Single submitter
dystonic disorder
-
DRD2 p.Arg145His
Uncertain significance
Single submitter
dystonic disorder
-
DRD2 p.Arg150His
Uncertain significance
Single submitter
dystonic disorder
-
DRD2 p.Arg217Cys
Uncertain significance
Single submitter
dystonic disorder
-
DRD2 p.Arg220His
Uncertain significance
Single submitter
dystonic disorder
- DRD2 p.Arg227Cys Uncertain significance Single submitter
- DRD2 p.Arg227His Uncertain significance Single submitter
-
DRD2 p.Arg274Trp
Uncertain significance
Single submitter
dystonic disorder
-
DRD2 p.Arg294Trp
Uncertain significance
Single submitter
dystonic disorder
-
DRD2 p.Arg360Cys
Uncertain significance
Single submitter
dystonic disorder
-
DRD2 p.Arg360His
Conflicting
Single submitter
dystonic disorder
- DRD2 p.Arg61His Uncertain significance Single submitter
- DRD2 p.Cys244Ser Uncertain significance Single submitter
-
DRD2 p.Gly24Arg
Conflicting
Single submitter
dystonic disorder
- DRD2 p.Gly27Arg Uncertain significance Single submitter
- DRD2 p.Ile156Val Uncertain significance Single submitter
- DRD2 p.Ser321Arg Uncertain significance Single submitter
- DRD2 p.Ser359Arg Uncertain significance Single submitter
- DRD2 p.Thr357Ile Uncertain significance Single submitter
-
DRD2 p.Val159Ile
Uncertain significance
Single submitter
dystonic disorder
- DRD2 p.Val200Met Uncertain significance Single submitter
- DRD2 p.Val421Met Uncertain significance Single submitter
- DRD2 p.Val53Met Uncertain significance Single submitter
-
DRD2 p.Val96Ala
Uncertain significance
Single submitter
dystonic disorder
All DRD2 variants
Conflicting classifications of pathogenicity 4
- p.Ala64Val Single submitter dystonic disorder ⚠
- p.Arg360His Single submitter dystonic disorder ⚠
- p.Gly24Arg Single submitter dystonic disorder ⚠
- p.Pro310Ser Single submitter DRD2-associated Dystonia ⚠
Benign 44
- c.1138+65T>G Multiple submitters
- c.1139-653A>C Multiple submitters dystonic disorder
- c.285+113A>G Multiple submitters
- c.285+7G>A Multiple submitters dystonic disorder
- c.285+91A>T Multiple submitters
- c.532+74C>A Multiple submitters
- c.723+135G>A Multiple submitters
- c.724-116C>T Multiple submitters
- c.724-126C>T Multiple submitters
- c.810+20A>G Multiple submitters dystonic disorder
- c.-31-295C>T Multiple submitters
- c.-31-870T>C Multiple submitters dystonic disorder
- c.*52G>A Multiple submitters
- p.Arg20= Multiple submitters dystonic disorder
- p.His313= Multiple submitters dystonic disorder
- p.Leu284= Multiple submitters dystonic disorder
- p.Leu44= Multiple submitters dystonic disorder
- p.Ser311Cys Multiple submitters dystonic disorder ⚠
- c.1138+7C>T Single submitter dystonic disorder
- c.1139-134T>G Single submitter
- c.1139-174C>T Single submitter
- c.1139-208G>A Single submitter
- c.1139-3dup Single submitter dystonic disorder
- c.285+15del Single submitter dystonic disorder
- c.285+191C>T Single submitter
- c.286-179C>T Single submitter
- c.286-208G>A Single submitter
- c.286-324A>G Single submitter
- c.533-157G>A Single submitter
- c.533-168T>C Single submitter
- c.533-545A>G Single submitter dystonic disorder
- c.723+17dup Single submitter dystonic disorder
- c.723+227G>A Single submitter
- c.724-353G>T Single submitter dystonic disorder
- c.811-200dup Single submitter
- c.811-75A>T Single submitter
- c.-32+24002G>A Single submitter dystonic disorder
- p.Ala410Thr Single submitter dystonic disorder
- p.Arg61= Single submitter dystonic disorder
- p.Asn52= Single submitter dystonic disorder
- p.Asp26= Single submitter dystonic disorder
- p.Phe172= Single submitter dystonic disorder
- p.Pro310= Single submitter dystonic disorder
- p.Tyr142= Single submitter dystonic disorder
Benign/Likely benign 5
- c.811-83G>T Multiple submitters dystonic disorder
- p.Gly51= Multiple submitters dystonic disorder
- p.Leu141= Multiple submitters dystonic disorder
- p.Lys327Glu Multiple submitters dystonic disorder
- p.Pro319= Multiple submitters dystonic disorder
Likely benign 45
- p.Ala29= Multiple submitters dystonic disorder
- p.Ser419= Multiple submitters dystonic disorder
- p.Thr412= Multiple submitters dystonic disorder
- c.1138+9del Single submitter dystonic disorder
- c.1139-20G>A Single submitter dystonic disorder
- c.286-16G>A Single submitter dystonic disorder
- c.396-11C>T Single submitter dystonic disorder
- c.396-8C>A Single submitter dystonic disorder
- c.532+11C>T Single submitter dystonic disorder
- c.532+15T>C Single submitter dystonic disorder
- c.533-4C>T Single submitter dystonic disorder
- c.533-6C>T Single submitter dystonic disorder
- c.*16G>A Single submitter
- p.Ala120= Single submitter
- p.Ala127= Single submitter
- p.Ala272= Single submitter
- p.Ala420= Single submitter dystonic disorder
- p.Ala77= Single submitter dystonic disorder
- p.Arg237= Single submitter dystonic disorder
- p.Asn176= Single submitter dystonic disorder
- p.Asn23= Single submitter dystonic disorder
- p.Gly314= Single submitter dystonic disorder
- p.His312= Single submitter dystonic disorder
- p.Ile130= Single submitter dystonic disorder
- p.Ile383= Single submitter dystonic disorder
- p.Ile424= Single submitter dystonic disorder
- p.Ile48= Single submitter dystonic disorder
- p.Ile73= Single submitter dystonic disorder
- p.Leu206= Single submitter
- p.Leu207= Single submitter dystonic disorder
- p.Lys435= Single submitter dystonic disorder
- p.Phe110= Single submitter
- p.Phe341= Single submitter dystonic disorder
- p.Pro139= Single submitter dystonic disorder
- p.Pro247= Single submitter dystonic disorder
- p.Pro290= Single submitter dystonic disorder
- p.Pro308= Single submitter dystonic disorder
- p.Pro322= Single submitter dystonic disorder
- p.Ser286= Single submitter dystonic disorder
- p.Ser301= Single submitter
- p.Thr119= Single submitter dystonic disorder
- p.Thr427= Single submitter dystonic disorder
- p.Tyr146= Single submitter
- p.Tyr426= Single submitter dystonic disorder
- p.Val381= Single submitter dystonic disorder
Uncertain significance 66
- p.Arg274Gln Multiple submitters dystonic disorder ⚠
- p.Gln366Lys Multiple submitters dystonic disorder ⚠
- p.Glu99Lys Multiple submitters dystonic disorder ⚠
- p.Gly261Arg Multiple submitters dystonic disorder ⚠
- p.His316Pro Multiple submitters dystonic disorder ⚠
- p.Ile431Thr Multiple submitters dystonic disorder ⚠
- p.Pro300His Multiple submitters dystonic disorder ⚠
- p.Val223Ile Multiple submitters ⚠
- c.533-3C>T Single submitter dystonic disorder
- c.533-545_533-544delinsGG Single submitter dystonic disorder
- p.Ala127Val Single submitter dystonic disorder ⚠
- p.Ala177Thr Single submitter dystonic disorder ⚠
- p.Ala276Pro Single submitter dystonic disorder ⚠
- p.Ala323Thr Single submitter dystonic disorder ⚠
- p.Ala376Pro Single submitter dystonic disorder ⚠
- p.Ala38Val Single submitter dystonic disorder ⚠
- p.Ala46Thr Single submitter ⚠
- p.Arg145His Single submitter dystonic disorder ⚠
- p.Arg150His Single submitter dystonic disorder ⚠
- p.Arg20Trp Single submitter ⚠
- p.Arg217Cys Single submitter dystonic disorder ⚠
- p.Arg219Cys Single submitter dystonic disorder ⚠
- p.Arg220His Single submitter dystonic disorder ⚠
- p.Arg227Cys Single submitter ⚠
- p.Arg227His Single submitter ⚠
- p.Arg274Trp Single submitter dystonic disorder ⚠
- p.Arg294Gln Single submitter dystonic disorder ⚠
- p.Arg294Trp Single submitter dystonic disorder ⚠
- p.Arg360Cys Single submitter dystonic disorder ⚠
- p.Arg61Cys Single submitter ⚠
- p.Arg61His Single submitter ⚠
- p.Asn176Asp Single submitter dystonic disorder ⚠
- p.Asn348Ser Single submitter ⚠
- p.Asn35His Single submitter ⚠
- p.Asp309Asn Single submitter dystonic disorder ⚠
- p.Asp30Asn Single submitter ⚠
- p.Asp320Asn Single submitter ⚠
- p.Asp400Glu Single submitter ⚠
- p.Cys244Ser Single submitter ⚠
- p.Gln179Arg Single submitter dystonic disorder ⚠
- p.Glu181Asp Single submitter ⚠
- p.Gly27Arg Single submitter ⚠
- p.Gly51Ser Single submitter dystonic disorder ⚠
- p.Ile156Val Single submitter ⚠
- p.Ile256Val Single submitter ⚠
- p.Leu123Val Single submitter ⚠
- p.Leu315Phe Single submitter ⚠
- p.Met374Arg Single submitter dystonic disorder ⚠
- p.Pro264Leu Single submitter ⚠
- p.Pro310Leu Single submitter ⚠
- p.Pro319Ala Single submitter dystonic disorder ⚠
- p.Pro347Ser Single submitter dystonic disorder ⚠
- p.Pro404Leu Single submitter ⚠
- p.Ser321Arg Single submitter ⚠
- p.Ser359Arg Single submitter ⚠
- p.Thr144= Single submitter
- p.Thr144Met Single submitter ⚠
- p.Thr293Ile Single submitter ⚠
- p.Thr357Ile Single submitter ⚠
- p.Val154Ile Single submitter dystonic disorder ⚠
- p.Val159Ile Single submitter dystonic disorder ⚠
- p.Val200Met Single submitter ⚠
- p.Val421Met Single submitter ⚠
- p.Val53Met Single submitter ⚠
- p.Val96Ala Single submitter dystonic disorder ⚠
- p.Val97Ile Single submitter dystonic disorder ⚠