GPR68 — 80 ClinVar variants
All ClinVar germline GPR68 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 54 flagged for review →
4 Pathogenic · 1 Conflicting · 7 Benign · 11 Likely benign · 57 Uncertain significance
Full GPR68 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 54
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 41
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- GPR68 p.Ala138Thr Uncertain significance Single submitter
- GPR68 p.Ala180Glu Uncertain significance Single submitter
- GPR68 p.Ala180Val Uncertain significance Single submitter
- GPR68 p.Ala211Thr Uncertain significance Single submitter
- GPR68 p.Ala211Val Uncertain significance Single submitter
- GPR68 p.Ala38Val Uncertain significance Single submitter
- GPR68 p.Arg128His Uncertain significance Single submitter
- GPR68 p.Arg210Cys Uncertain significance Single submitter
- GPR68 p.Arg214Gln Uncertain significance Single submitter
- GPR68 p.Arg228Gln Uncertain significance Single submitter
- GPR68 p.Arg295Gln Uncertain significance Single submitter
- GPR68 p.Asp259Asn Uncertain significance Single submitter
- GPR68 p.Asp7Gly Uncertain significance Single submitter
- GPR68 p.Asp91Asn Uncertain significance Single submitter
- GPR68 p.Cys240Gly Uncertain significance Single submitter
- GPR68 p.Gln206Glu Uncertain significance Single submitter
- GPR68 p.Gln219His Uncertain significance Single submitter
- GPR68 p.Gln334His Uncertain significance Single submitter
- GPR68 p.Glu164Val Uncertain significance Single submitter
- GPR68 p.Glu166Lys Uncertain significance Single submitter
- GPR68 p.Glu318Gln Uncertain significance Single submitter
- GPR68 p.Gly2Glu Uncertain significance Single submitter
- GPR68 p.Gly323Asp Uncertain significance Single submitter
- GPR68 p.Gly332Arg Uncertain significance Single submitter
- GPR68 p.Gly335Asp Uncertain significance Single submitter
- GPR68 p.Gly355Arg Uncertain significance Single submitter
- GPR68 p.Gly57Ala Uncertain significance Single submitter
- GPR68 p.His159Tyr Uncertain significance Single submitter
- GPR68 p.His169Gln Uncertain significance Single submitter
- GPR68 p.His175Tyr Uncertain significance Single submitter
- GPR68 p.Ile115Thr Uncertain significance Single submitter
- GPR68 p.Ile4Thr Uncertain significance Single submitter
- GPR68 p.Ile50Leu Uncertain significance Single submitter
- GPR68 p.Phe156Tyr Uncertain significance Single submitter
- GPR68 p.Ser232Thr Uncertain significance Single submitter
- GPR68 p.Thr18Ala Uncertain significance Single submitter
- GPR68 p.Thr313Ala Uncertain significance Single submitter
- GPR68 p.Thr313Ile Uncertain significance Single submitter
- GPR68 p.Trp146Arg Uncertain significance Single submitter
- GPR68 p.Val162Ile Uncertain significance Single submitter
- GPR68 p.Val29Ile Uncertain significance Single submitter
Predictors split 13
The independent predictors disagree with each other — read with care.
- GPR68 p.Ala281Thr Uncertain significance Single submitter
- GPR68 p.Arg128Cys Uncertain significance Single submitter
- GPR68 p.Arg295Trp Uncertain significance Single submitter
- GPR68 p.Asp16His Uncertain significance Single submitter
- GPR68 p.Glu103Lys Uncertain significance Single submitter
- GPR68 p.Glu174Gln Uncertain significance Single submitter
- GPR68 p.Gly90Ser Uncertain significance Single submitter
- GPR68 p.Thr233Ser Uncertain significance Single submitter
- GPR68 p.Tyr106His Uncertain significance Single submitter
- GPR68 p.Tyr187Ser Uncertain significance Single submitter
- GPR68 p.Val212Met Uncertain significance Single submitter
- GPR68 p.Val280Phe Uncertain significance Single submitter
- GPR68 p.Val284Met Uncertain significance Single submitter
All GPR68 variants
Pathogenic 4
- p.Leu74Pro No assertion criteria amelogenesis imperfecta, hypomaturation type, IIa6
- p.Lys223fs No assertion criteria amelogenesis imperfecta, hypomaturation type, IIa6
- p.Phe129_Asn278del No assertion criteria amelogenesis imperfecta, hypomaturation type, IIa6
- p.Val27fs No assertion criteria amelogenesis imperfecta
Conflicting classifications of pathogenicity 1
- p.Glu336Ter Single submitter amelogenesis imperfecta, hypomaturation type, IIa6
Benign 7
- p.Ala38= Multiple submitters
- p.Arg183= Multiple submitters
- c.-129-264T>A Single submitter
- c.-129-305TTAT[10] Single submitter
- c.-129-305TTAT[11] Single submitter
- c.-129-305TTAT[7] Single submitter
- c.-129-305TTAT[9] Single submitter
Likely benign 11
- p.Lys330Asn Multiple submitters
- p.Ala124= Single submitter
- p.Gly314Ser Single submitter
- p.Val264Ile Single submitter
- p.Ala281= No assertion criteria GPR68-related disorder
- p.Cys114= No assertion criteria GPR68-related disorder
- p.Phe45= No assertion criteria GPR68-related disorder
- p.Ser290= No assertion criteria GPR68-related disorder
- p.Ser73= No assertion criteria GPR68-related disorder
- p.Tyr120= No assertion criteria GPR68-related disorder
- p.Val141= No assertion criteria GPR68-related disorder
Uncertain significance 57
- p.Ala138Thr Single submitter ⚠
- p.Ala180Glu Single submitter ⚠
- p.Ala180Val Single submitter ⚠
- p.Ala211Thr Single submitter ⚠
- p.Ala211Val Single submitter ⚠
- p.Ala281Thr Single submitter ⚠
- p.Ala38Val Single submitter ⚠
- p.Arg128Cys Single submitter ⚠
- p.Arg128His Single submitter ⚠
- p.Arg210Cys Single submitter ⚠
- p.Arg214Gln Single submitter ⚠
- p.Arg228Gln Single submitter ⚠
- p.Arg295Gln Single submitter ⚠
- p.Arg295Trp Single submitter ⚠
- p.Asp16His Single submitter ⚠
- p.Asp259Asn Single submitter ⚠
- p.Asp7Gly Single submitter ⚠
- p.Asp91Asn Single submitter ⚠
- p.Cys240Gly Single submitter ⚠
- p.Cys287Gly Single submitter
- p.Gln206Glu Single submitter ⚠
- p.Gln219His Single submitter ⚠
- p.Gln334His Single submitter ⚠
- p.Glu103Lys Single submitter ⚠
- p.Glu164Val Single submitter ⚠
- p.Glu166Lys Single submitter ⚠
- p.Glu174Gln Single submitter ⚠
- p.Glu318Gln Single submitter ⚠
- p.Glu326fs Single submitter amelogenesis imperfecta, hypomaturation type, IIa6
- p.Gly2Glu Single submitter ⚠
- p.Gly323Asp Single submitter ⚠
- p.Gly332Arg Single submitter ⚠
- p.Gly335Asp Single submitter ⚠
- p.Gly355Arg Single submitter ⚠
- p.Gly57Ala Single submitter ⚠
- p.Gly90Ser Single submitter ⚠
- p.His159Tyr Single submitter ⚠
- p.His169Gln Single submitter ⚠
- p.His175Tyr Single submitter ⚠
- p.Ile115Thr Single submitter ⚠
- p.Ile4Thr Single submitter ⚠
- p.Ile50Leu Single submitter ⚠
- p.Phe156Tyr Single submitter ⚠
- p.Ser232Thr Single submitter ⚠
- p.Thr18Ala Single submitter ⚠
- p.Thr233Ser Single submitter ⚠
- p.Thr313Ala Single submitter ⚠
- p.Thr313Ile Single submitter ⚠
- p.Trp146Arg Single submitter ⚠
- p.Tyr106His Single submitter ⚠
- p.Tyr187Ser Single submitter ⚠
- p.Tyr205Ser Single submitter
- p.Val162Ile Single submitter ⚠
- p.Val212Met Single submitter ⚠
- p.Val280Phe Single submitter ⚠
- p.Val284Met Single submitter ⚠
- p.Val29Ile Single submitter ⚠