GPR88 — 102 ClinVar variants

All ClinVar germline GPR88 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 58 flagged for review →

1 Pathogenic · 3 Benign · 38 Likely benign · 60 Uncertain significance

Full GPR88 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 58

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 52

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 6

The independent predictors disagree with each other — read with care.

All GPR88 variants

Pathogenic 1

p.Cys291Ter No assertion criteria chorea, childhood-onset, with psychomotor retardation

Benign 3

p.Val190Ile Multiple submitters chorea, childhood-onset, with psychomotor retardation
p.Ala366= Single submitter
p.Val301= Single submitter

Likely benign 38

p.Ala373= Multiple submitters
p.Phe293= Multiple submitters
p.Ala241= Single submitter
p.Ala250= Single submitter
p.Ala363= Single submitter
p.Ala379= Single submitter
p.Ala99= Single submitter
p.Arg156= Single submitter
p.Arg276= Single submitter
p.Arg339= Single submitter
p.Arg344= Single submitter
p.Asn49= Single submitter
p.Cys21= Single submitter
p.Cys74= Single submitter
p.Glu88= Single submitter
p.Gly160= Single submitter
p.Gly353= Single submitter
p.His191= Single submitter
p.His232= Single submitter
p.Leu119= Single submitter
p.Leu140= Single submitter
p.Leu172= Single submitter
p.Leu18= Single submitter
p.Leu284= Single submitter
p.Leu295= Single submitter
p.Leu331= Single submitter
p.Leu37= Single submitter
p.Leu94= Single submitter
p.Pro102= Single submitter
p.Pro193= Single submitter
p.Pro299= Single submitter
p.Ser222= Single submitter
p.Ser79= Single submitter
p.Thr96= Single submitter
p.Tyr149= Single submitter
p.Val219= Single submitter
p.Val350= Single submitter
p.Val367= Single submitter

Uncertain significance 60

p.Ala263Gly Multiple submitters ⚠
p.Arg30Gln Multiple submitters ⚠
p.Leu375Val Multiple submitters ⚠
p.Pro102Ser Multiple submitters ⚠
p.Pro256Leu Multiple submitters ⚠
p.Pro274Ser Multiple submitters ⚠
p.Thr96Ile Multiple submitters ⚠
p.Val317Met Multiple submitters ⚠
p.Val80Ile Multiple submitters ⚠
p.Ala151Val Single submitter ⚠
p.Ala167Thr Single submitter ⚠
p.Ala180Val Single submitter ⚠
p.Ala198Thr Single submitter ⚠
p.Ala246_Phe247insAla Single submitter
p.Ala246_Phe247insAlaAlaAla Single submitter
p.Ala259Thr Single submitter ⚠
p.Ala263Val Single submitter ⚠
p.Ala319Glu Single submitter ⚠
p.Ala320Thr Single submitter ⚠
p.Ala330Val Single submitter ⚠
p.Ala357Pro Single submitter ⚠
p.Ala357Thr Single submitter ⚠
p.Ala369Thr Single submitter ⚠
p.Ala75Thr Single submitter ⚠
p.Arg116Gln Single submitter ⚠
p.Arg182Gln Single submitter ⚠
p.Arg225Trp Single submitter ⚠
p.Arg378Gly Single submitter ⚠
p.Asn3Ser Single submitter ⚠
p.Cys132Ser Single submitter ⚠
p.Gln150Arg Single submitter ⚠
p.Gln154His Single submitter ⚠
p.Gln264Leu Single submitter ⚠
p.Gln264Pro Single submitter ⚠
p.Gly214Ser Single submitter ⚠
p.Gly257Ser Single submitter ⚠
p.Gly73Cys Single submitter ⚠
p.Gly97Arg Single submitter ⚠
p.His273Gln Single submitter ⚠
p.Leu172His Single submitter ⚠
p.Leu176Ile Single submitter ⚠
p.Leu281Val Single submitter ⚠
p.Pro101His Single submitter ⚠
p.Pro177Leu Single submitter ⚠
p.Pro188Ser Single submitter ⚠
p.Pro238Ser Single submitter ⚠
p.Pro262Leu Single submitter ⚠
p.Pro267Leu Single submitter ⚠
p.Pro269Arg Single submitter ⚠
p.Pro270Thr Single submitter ⚠
p.Pro299Leu Single submitter ⚠
p.Pro333Gln Single submitter ⚠
p.Ser6Ala Single submitter ⚠
p.Thr46Met Single submitter ⚠
p.Thr7Ala Single submitter ⚠
p.Val228Met Single submitter ⚠
p.Val286Met Single submitter ⚠
p.Val301Leu Single submitter ⚠
p.Val354Gly Single submitter ⚠
p.Val362Ile Single submitter ⚠