DRD3 — 68 ClinVar variants
All ClinVar germline DRD3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 44 flagged for review →
2 Conflicting · 6 Benign · 2 Benign/Likely benign · 14 Likely benign · 44 Uncertain significance
Full DRD3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 44
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.
-
DRD3 p.Met52Thr
Conflicting
Single submitter
DRD3-related disorder
-
DRD3 p.Val136Ile
Conflicting
Single submitter
tremor, hereditary essential, 1
Predictors lean, ClinVar uncertain 29
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- DRD3 p.Ala116Asp Uncertain significance Single submitter
- DRD3 p.Ala377Asp Uncertain significance Single submitter
- DRD3 p.Arg100His Uncertain significance Single submitter
- DRD3 p.Arg220Gln Uncertain significance Single submitter
- DRD3 p.Arg226Gly Uncertain significance Single submitter
- DRD3 p.Arg254His Uncertain significance Single submitter
- DRD3 p.Arg27His Uncertain significance Single submitter
- DRD3 p.Arg318Gln Uncertain significance Single submitter
- DRD3 p.Cys102Phe Uncertain significance Single submitter
- DRD3 p.Cys122Tyr Uncertain significance Single submitter
- DRD3 p.Cys15Ser Uncertain significance Single submitter
- DRD3 p.Cys181Arg Uncertain significance Single submitter
- DRD3 p.Gly16Glu Uncertain significance Single submitter
- DRD3 p.Gly268Ala Uncertain significance Single submitter
- DRD3 p.His249Tyr Uncertain significance Single submitter
- DRD3 p.Phe346Leu Uncertain significance Single submitter
-
DRD3 p.Pro135His
Uncertain significance
Single submitter
tremor, hereditary essential, 1
- DRD3 p.Pro314Leu Uncertain significance Single submitter
- DRD3 p.Pro314Thr Uncertain significance Single submitter
- DRD3 p.Thr142Met Uncertain significance Single submitter
- DRD3 p.Thr242Asn Uncertain significance Single submitter
- DRD3 p.Thr242Ile Uncertain significance Single submitter
-
DRD3 p.Trp370Cys
Uncertain significance
Single submitter
DRD3-related disorder
- DRD3 p.Tyr208Cys Uncertain significance Single submitter
- DRD3 p.Val105Ile Uncertain significance Single submitter
- DRD3 p.Val195Ala Uncertain significance Single submitter
- DRD3 p.Val298Gly Uncertain significance Single submitter
- DRD3 p.Val340Phe Uncertain significance Single submitter
- DRD3 p.Val374Met Uncertain significance Single submitter
Predictors split 13
The independent predictors disagree with each other — read with care.
- DRD3 p.Arg148Trp Uncertain significance Single submitter
- DRD3 p.Arg149His Uncertain significance Single submitter
- DRD3 p.Arg254Cys Uncertain significance Single submitter
- DRD3 p.Arg299Gly Uncertain significance Single submitter
- DRD3 p.Arg323Gln Uncertain significance Single submitter
- DRD3 p.Arg391Gln Uncertain significance Single submitter
- DRD3 p.Arg58Trp Uncertain significance Single submitter
- DRD3 p.Asn19Lys Uncertain significance Single submitter
- DRD3 p.Asp177Asn Uncertain significance Single submitter
- DRD3 p.Ser20Pro Uncertain significance Single submitter
- DRD3 p.Thr108Ser Uncertain significance Single submitter
- DRD3 p.Thr14Ile Uncertain significance Single submitter
- DRD3 p.Val360Met Uncertain significance Single submitter
All DRD3 variants
Conflicting classifications of pathogenicity 2
- p.Met52Thr Single submitter DRD3-related disorder ⚠
- p.Val136Ile Single submitter tremor, hereditary essential, 1 ⚠
Benign 6
- c.-333G>A Multiple submitters tremor, hereditary essential, 1
- p.Ala17= Multiple submitters tremor, hereditary essential, 1
- p.Gln240= Multiple submitters tremor, hereditary essential, 1
- p.Gln329= Multiple submitters tremor, hereditary essential, 1
- c.383+2327C>T Single submitter
- p.Gly9= Single submitter
Benign/Likely benign 2
Likely benign 14
- c.-105G>A Multiple submitters tremor, hereditary essential, 1
- p.Ala38Thr Multiple submitters tremor, hereditary essential, 1
- p.His349= Multiple submitters
- p.Pro135= Multiple submitters
- c.-153T>G Single submitter tremor, hereditary essential, 1
- c.-252C>T Single submitter tremor, hereditary essential, 1
- c.-286A>C Single submitter tremor, hereditary essential, 1
- p.Arg318= Single submitter
- p.Cys231Ser Single submitter tremor, hereditary essential, 1
- p.Ile43= Single submitter
- p.Leu39= Single submitter
- p.Ser307= Single submitter
- p.Thr108= Single submitter
- p.Ala38= No assertion criteria DRD3-related disorder
Uncertain significance 44
- c.383+1G>C Single submitter schizophrenia
- c.723+4A>G Single submitter
- p.Ala116Asp Single submitter ⚠
- p.Ala377Asp Single submitter ⚠
- p.Arg100His Single submitter ⚠
- p.Arg148Trp Single submitter ⚠
- p.Arg149His Single submitter ⚠
- p.Arg220Gln Single submitter ⚠
- p.Arg226Gly Single submitter ⚠
- p.Arg254Cys Single submitter ⚠
- p.Arg254His Single submitter ⚠
- p.Arg27His Single submitter ⚠
- p.Arg299Gly Single submitter ⚠
- p.Arg318Gln Single submitter ⚠
- p.Arg323Gln Single submitter ⚠
- p.Arg391Gln Single submitter ⚠
- p.Arg58Trp Single submitter ⚠
- p.Asn19Lys Single submitter ⚠
- p.Asp177Asn Single submitter ⚠
- p.Cys102Phe Single submitter ⚠
- p.Cys122Tyr Single submitter ⚠
- p.Cys15Ser Single submitter ⚠
- p.Cys181Arg Single submitter ⚠
- p.Gly16Glu Single submitter ⚠
- p.Gly268Ala Single submitter ⚠
- p.His249Tyr Single submitter ⚠
- p.Phe346Leu Single submitter ⚠
- p.Pro135His Single submitter tremor, hereditary essential, 1 ⚠
- p.Pro314Leu Single submitter ⚠
- p.Pro314Thr Single submitter ⚠
- p.Ser20Pro Single submitter ⚠
- p.Thr108Ser Single submitter ⚠
- p.Thr142Met Single submitter ⚠
- p.Thr14Ile Single submitter ⚠
- p.Thr242Asn Single submitter ⚠
- p.Thr242Ile Single submitter ⚠
- p.Trp370Cys Single submitter DRD3-related disorder ⚠
- p.Tyr208Cys Single submitter ⚠
- p.Val105Ile Single submitter ⚠
- p.Val195Ala Single submitter ⚠
- p.Val298Gly Single submitter ⚠
- p.Val340Phe Single submitter ⚠
- p.Val360Met Single submitter ⚠
- p.Val374Met Single submitter ⚠