GRK2 — 18 ClinVar variants
All ClinVar germline GRK2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 8 flagged for review →
1 Pathogenic · 2 Likely pathogenic · 2 Benign · 4 Likely benign · 9 Uncertain significance
Full GRK2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 8
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 4
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
Predictors split 4
The independent predictors disagree with each other — read with care.
All GRK2 variants
Pathogenic 1
- p.Leu157Phe No assertion criteria Jeune syndrome ⚠
Likely pathogenic 2
- c.555+1G>A No assertion criteria Jeune syndrome
- p.Ser450fs No assertion criteria Jeune syndrome
Likely benign 4
- c.1492-5T>A Single submitter
- p.Ala367Val Single submitter ⚠
- p.Cys634= Single submitter
- p.Leu385= Single submitter
Uncertain significance 9
- c.114-32_114-23del Single submitter Jeune syndrome - GRK2-related
- c.503+1G>A Single submitter GRK2-related disorder
- p.Arg435Gln Single submitter ⚠
- p.Arg69fs Single submitter
- p.Asp481Asn Single submitter ⚠
- p.Asp527Asn Single submitter ⚠
- p.Ser121Leu Single submitter ⚠
- p.Thr528Ile Single submitter ⚠
- p.Val246Phe Single submitter ⚠