GPR39 — 83 ClinVar variants

All ClinVar germline GPR39 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 72 flagged for review →

1 Conflicting · 4 Benign · 5 Likely benign · 73 Uncertain significance

Full GPR39 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 72

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 1

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

GPR39 p.Ala378Thr Conflicting Single submitter

Predictors lean, ClinVar uncertain 62

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

Predictors split 9

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

All GPR39 variants

Conflicting classifications of pathogenicity 1

p.Ala378Thr Single submitter ⚠

Benign 4

p.Asn212Ser Multiple submitters
p.Ala293= Single submitter
p.Lys422_Ser423insLys Single submitter
p.Ser147= Single submitter

Likely benign 5

p.Arg362His Single submitter
p.Arg397Trp Single submitter
p.Gln366Pro Single submitter
p.Gly157Ala Single submitter
p.Ile135Val Single submitter

Uncertain significance 73

p.Ala277Gly Single submitter ⚠
p.Ala437Ser Single submitter ⚠
p.Arg278Thr Single submitter ⚠
p.Arg386Gly Single submitter ⚠
p.Asn434Ser Single submitter ⚠
p.Asp10His Single submitter ⚠
p.Asp383Glu Single submitter ⚠
p.Asp383Gly Single submitter ⚠
p.Asp383Tyr Single submitter ⚠
p.Cys11Tyr Single submitter ⚠
p.Cys150Tyr Single submitter ⚠
p.Gln366Arg Single submitter ⚠
p.Glu200Gly Single submitter ⚠
p.Glu445Asp Single submitter ⚠
p.Gly188Arg Single submitter ⚠
p.Gly259Arg Single submitter ⚠
p.Gly447Ser Single submitter ⚠
p.His125Gln Single submitter ⚠
p.His186Arg Single submitter ⚠
p.His186Tyr Single submitter ⚠
p.His198Asn Single submitter ⚠
p.His379Arg Single submitter ⚠
p.His379Tyr Single submitter ⚠
p.His451Pro Single submitter ⚠
p.Ile301Leu Single submitter ⚠
p.Ile40Thr Single submitter ⚠
p.Leu110Met Single submitter ⚠
p.Leu129Phe Single submitter ⚠
p.Leu232Ile Single submitter ⚠
p.Leu236Phe Single submitter ⚠
p.Leu257Val Single submitter ⚠
p.Leu365Arg Single submitter ⚠
p.Leu365Met Single submitter ⚠
p.Leu392Phe Single submitter ⚠
p.Leu393Phe Single submitter ⚠
p.Leu410Phe Single submitter ⚠
p.Leu99Pro Single submitter
p.Lys109Arg Single submitter ⚠
p.Lys407Met Single submitter ⚠
p.Met207Ile Single submitter ⚠
p.Met241Val Single submitter ⚠
p.Phe284Leu Single submitter ⚠
p.Phe319Leu Single submitter ⚠
p.Phe333Cys Single submitter ⚠
p.Phe387Cys Single submitter ⚠
p.Pro169Leu Single submitter ⚠
p.Pro202Leu Single submitter ⚠
p.Pro21Ala Single submitter ⚠
p.Pro263Thr Single submitter ⚠
p.Pro341Leu Single submitter ⚠
p.Pro391Arg Single submitter ⚠
p.Pro391Leu Single submitter ⚠
p.Pro391Ser Single submitter ⚠
p.Pro439Leu Single submitter ⚠
p.Pro88Ser Single submitter ⚠
p.Ser147Leu Single submitter ⚠
p.Ser208Ala Single submitter ⚠
p.Ser252Arg Single submitter ⚠
p.Ser271Arg Single submitter ⚠
p.Ser347Phe Single submitter ⚠
p.Ser423Cys Single submitter ⚠
p.Ser78Leu Single submitter ⚠
p.Trp28Cys Single submitter ⚠
p.Trp314Gly Single submitter ⚠
p.Tyr63Cys Single submitter
p.Val146Met Single submitter ⚠
p.Val248Met Single submitter ⚠
p.Val294Leu Single submitter ⚠
p.Val356Leu Single submitter ⚠
p.Val36Leu Single submitter ⚠
p.Val376Ile Single submitter ⚠
p.Val42Met Single submitter ⚠
p.Val54Ile Single submitter ⚠