DRD5 — 109 ClinVar variants
All ClinVar germline DRD5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 97 flagged for review →
1 Conflicting · 4 Benign · 7 Likely benign · 97 Uncertain significance
Full DRD5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 97
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.
- DRD5 p.Ala10Val Uncertain significance Single submitter
- DRD5 p.Ala111Glu Uncertain significance Single submitter
- DRD5 p.Ala164Glu Uncertain significance Single submitter
- DRD5 p.Ala16Pro Uncertain significance Single submitter
- DRD5 p.Ala16Val Uncertain significance Single submitter
- DRD5 p.Ala185Thr Uncertain significance Single submitter
- DRD5 p.Ala185Val Uncertain significance Single submitter
- DRD5 p.Ala186Val Uncertain significance Single submitter
- DRD5 p.Ala198Val Uncertain significance Single submitter
- DRD5 p.Ala226Thr Uncertain significance Single submitter
- DRD5 p.Ala331Pro Uncertain significance Single submitter
- DRD5 p.Ala84Val Uncertain significance Single submitter
- DRD5 p.Arg273Gln Uncertain significance Single submitter
- DRD5 p.Arg423Gln Uncertain significance Single submitter
- DRD5 p.Asn179Ser Uncertain significance Single submitter
- DRD5 p.Asn362Lys Uncertain significance Single submitter
- DRD5 p.Asp192Asn Uncertain significance Single submitter
- DRD5 p.Asp192Gly Uncertain significance Single submitter
- DRD5 p.Asp446Gly Uncertain significance Single submitter
- DRD5 p.Gln20Pro Uncertain significance Single submitter
- DRD5 p.Gln23His Uncertain significance Single submitter
- DRD5 p.Glu405Asp Uncertain significance Single submitter
- DRD5 p.Gly105Cys Uncertain significance Single submitter
- DRD5 p.Gly28Glu Uncertain significance Single submitter
- DRD5 p.Gly303Arg Uncertain significance Single submitter
- DRD5 p.Gly348Ser Uncertain significance Single submitter
- DRD5 p.Gly421Ser Uncertain significance Single submitter
- DRD5 p.Gly447Ser Uncertain significance Single submitter
- DRD5 p.Ile242Val Uncertain significance Single submitter
- DRD5 p.Leu158Trp Uncertain significance Single submitter
- DRD5 p.Leu17Val Uncertain significance Single submitter
- DRD5 p.Leu21Gln Uncertain significance Single submitter
- DRD5 p.Leu2Pro Uncertain significance Single submitter
- DRD5 p.Leu83Pro Uncertain significance Single submitter
- DRD5 p.Lys289Arg Uncertain significance Single submitter
- DRD5 p.Met241Ile Uncertain significance Single submitter
- DRD5 p.Met318Thr Uncertain significance Single submitter
- DRD5 p.Met413Val Uncertain significance Single submitter
- DRD5 p.Met75Val Uncertain significance Single submitter
- DRD5 p.Phe312Leu Uncertain significance Single submitter
- DRD5 p.Pro12Ser Uncertain significance Single submitter
- DRD5 p.Pro415Ser Uncertain significance Single submitter
- DRD5 p.Pro470Ser Uncertain significance Single submitter
- DRD5 p.Pro470Thr Uncertain significance Single submitter
-
DRD5 p.Ser219Phe
Uncertain significance
Single submitter
oculocutaneous albinism type 1A
- DRD5 p.Thr469Ala Uncertain significance Single submitter
- DRD5 p.Tyr18Asp Uncertain significance Single submitter
-
DRD5 p.Val115Ile
Uncertain significance
Single submitter
DRD5-related disorder
- DRD5 p.Val161Ile Uncertain significance Single submitter
- DRD5 p.Val176Ala Uncertain significance Single submitter
- DRD5 p.Val176Ile Uncertain significance Single submitter
- DRD5 p.Val254Met Uncertain significance Single submitter
- DRD5 p.Val27Ala Uncertain significance Single submitter
- DRD5 p.Val336Ile Uncertain significance Single submitter
- DRD5 p.Val343Asp Uncertain significance Single submitter
- DRD5 p.Val345Ile Uncertain significance Single submitter
- DRD5 p.Val357Leu Uncertain significance Single submitter
- DRD5 p.Val401Ile Uncertain significance Single submitter
Predictors split 39
The independent predictors disagree with each other — read with care.
- DRD5 p.Leu88Phe Benign Multiple submitters
- DRD5 p.Val59Met Uncertain significance Multiple submitters
-
DRD5 p.Ala370Asp
Uncertain significance
Single submitter
attention deficit-hyperactivity disorder, susceptibility to, 7
- DRD5 p.Arg155Cys Uncertain significance Single submitter
- DRD5 p.Arg155His Uncertain significance Single submitter
- DRD5 p.Arg257His Uncertain significance Single submitter
- DRD5 p.Arg258Trp Uncertain significance Single submitter
- DRD5 p.Arg285His Uncertain significance Single submitter
- DRD5 p.Arg67Gln Uncertain significance Single submitter
- DRD5 p.Arg69Leu Uncertain significance Single submitter
- DRD5 p.Asp114Asn Uncertain significance Single submitter
- DRD5 p.Asp364Gly Uncertain significance Single submitter
- DRD5 p.Cys322Phe Uncertain significance Single submitter
- DRD5 p.Cys375Ser Uncertain significance Single submitter
- DRD5 p.Cys375Tyr Uncertain significance Single submitter
- DRD5 p.Glu102Lys Uncertain significance Single submitter
- DRD5 p.Glu263Gly Uncertain significance Single submitter
- DRD5 p.Gly29Val Uncertain significance Single submitter
- DRD5 p.Gly374Arg Uncertain significance Single submitter
- DRD5 p.Gly374Val Uncertain significance Single submitter
- DRD5 p.Leu354Val Uncertain significance Single submitter
- DRD5 p.Leu47Val Uncertain significance Single submitter
- DRD5 p.Leu56Met Uncertain significance Single submitter
- DRD5 p.Lys293Glu Uncertain significance Single submitter
- DRD5 p.Lys367Asn Uncertain significance Single submitter
- DRD5 p.Met302Thr Uncertain significance Single submitter
- DRD5 p.Phe347Leu Uncertain significance Single submitter
- DRD5 p.Pro108Ser Uncertain significance Single submitter
- DRD5 p.Ser261Pro Uncertain significance Single submitter
- DRD5 p.Ser323Ile Uncertain significance Single submitter
- DRD5 p.Ser337Cys Uncertain significance Single submitter
- DRD5 p.Ser337Thr Uncertain significance Single submitter
- DRD5 p.Ser395Phe Uncertain significance Single submitter
- DRD5 p.Thr297Ile Uncertain significance Single submitter
- DRD5 p.Val345Ala Uncertain significance Single submitter
- DRD5 p.Val387Met Uncertain significance Single submitter
- DRD5 p.Val41Ala Uncertain significance Single submitter
- DRD5 p.Val42Ile Uncertain significance Single submitter
- DRD5 p.Val78Gly Uncertain significance Single submitter
All DRD5 variants
Conflicting classifications of pathogenicity 1
- c.*47T>C Single submitter hereditary attention deficit-hyperactivity disorder
Benign 4
- c.-226G>C Multiple submitters
- c.*178G>T Multiple submitters
- p.Leu88Phe Multiple submitters ⚠
- p.His268Gln No assertion criteria DRD5-related disorder
Likely benign 7
- p.Gln14Arg Single submitter
- p.Lys149Glu Single submitter
- p.Phe438Ser Single submitter
- c.-5C>G No assertion criteria DRD5-related disorder
- p.Arg72= No assertion criteria DRD5-related disorder
- p.Asp211Asn No assertion criteria DRD5-related disorder
- p.Cys62Ter No assertion criteria DRD5-related disorder
Uncertain significance 97
- p.Val59Met Multiple submitters ⚠
- p.Ala10Val Single submitter ⚠
- p.Ala111Glu Single submitter ⚠
- p.Ala164Glu Single submitter ⚠
- p.Ala16Pro Single submitter ⚠
- p.Ala16Val Single submitter ⚠
- p.Ala185Thr Single submitter ⚠
- p.Ala185Val Single submitter ⚠
- p.Ala186Val Single submitter ⚠
- p.Ala198Val Single submitter ⚠
- p.Ala226Thr Single submitter ⚠
- p.Ala331Pro Single submitter ⚠
- p.Ala370Asp Single submitter attention deficit-hyperactivity disorder, susceptibility to, 7 ⚠
- p.Ala84Val Single submitter ⚠
- p.Arg155Cys Single submitter ⚠
- p.Arg155His Single submitter ⚠
- p.Arg257His Single submitter ⚠
- p.Arg258Trp Single submitter ⚠
- p.Arg273Gln Single submitter ⚠
- p.Arg285His Single submitter ⚠
- p.Arg423Gln Single submitter ⚠
- p.Arg67Gln Single submitter ⚠
- p.Arg69Leu Single submitter ⚠
- p.Asn179Ser Single submitter ⚠
- p.Asn362Lys Single submitter ⚠
- p.Asp114Asn Single submitter ⚠
- p.Asp192Asn Single submitter ⚠
- p.Asp192Gly Single submitter ⚠
- p.Asp364Gly Single submitter ⚠
- p.Asp446Gly Single submitter ⚠
- p.Cys322Phe Single submitter ⚠
- p.Cys375Ser Single submitter ⚠
- p.Cys375Tyr Single submitter ⚠
- p.Gln20Pro Single submitter ⚠
- p.Gln23His Single submitter ⚠
- p.Glu102Lys Single submitter ⚠
- p.Glu263Gly Single submitter ⚠
- p.Glu405Asp Single submitter ⚠
- p.Gly105Cys Single submitter ⚠
- p.Gly28Glu Single submitter ⚠
- p.Gly29Val Single submitter ⚠
- p.Gly303Arg Single submitter ⚠
- p.Gly348Ser Single submitter ⚠
- p.Gly374Arg Single submitter ⚠
- p.Gly374Val Single submitter ⚠
- p.Gly421Ser Single submitter ⚠
- p.Gly447Ser Single submitter ⚠
- p.Ile242Val Single submitter ⚠
- p.Leu158Trp Single submitter ⚠
- p.Leu17Val Single submitter ⚠
- p.Leu21Gln Single submitter ⚠
- p.Leu2Pro Single submitter ⚠
- p.Leu354Val Single submitter ⚠
- p.Leu47Val Single submitter ⚠
- p.Leu56Met Single submitter ⚠
- p.Leu83Pro Single submitter ⚠
- p.Lys289Arg Single submitter ⚠
- p.Lys293Glu Single submitter ⚠
- p.Lys367Asn Single submitter ⚠
- p.Met241Ile Single submitter ⚠
- p.Met302Thr Single submitter ⚠
- p.Met318Thr Single submitter ⚠
- p.Met413Val Single submitter ⚠
- p.Met75Val Single submitter ⚠
- p.Phe312Leu Single submitter ⚠
- p.Phe347Leu Single submitter ⚠
- p.Pro108Ser Single submitter ⚠
- p.Pro12Ser Single submitter ⚠
- p.Pro326= Single submitter schizophrenia
- p.Pro415Ser Single submitter ⚠
- p.Pro470Ser Single submitter ⚠
- p.Pro470Thr Single submitter ⚠
- p.Ser219Phe Single submitter oculocutaneous albinism type 1A ⚠
- p.Ser261Pro Single submitter ⚠
- p.Ser323Ile Single submitter ⚠
- p.Ser337Cys Single submitter ⚠
- p.Ser337Thr Single submitter ⚠
- p.Ser395Phe Single submitter ⚠
- p.Thr297Ile Single submitter ⚠
- p.Thr469Ala Single submitter ⚠
- p.Tyr18Asp Single submitter ⚠
- p.Val115Ile Single submitter DRD5-related disorder ⚠
- p.Val161Ile Single submitter ⚠
- p.Val176Ala Single submitter ⚠
- p.Val176Ile Single submitter ⚠
- p.Val254Met Single submitter ⚠
- p.Val27Ala Single submitter ⚠
- p.Val336Ile Single submitter ⚠
- p.Val343Asp Single submitter ⚠
- p.Val345Ala Single submitter ⚠
- p.Val345Ile Single submitter ⚠
- p.Val357Leu Single submitter ⚠
- p.Val387Met Single submitter ⚠
- p.Val401Ile Single submitter ⚠
- p.Val41Ala Single submitter ⚠
- p.Val42Ile Single submitter ⚠
- p.Val78Gly Single submitter ⚠