OXGR1 — 69 ClinVar variants
All ClinVar germline OXGR1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 57 flagged for review →
2 Pathogenic · 2 Likely pathogenic · 1 Benign · 3 Likely benign · 61 Uncertain significance
Full OXGR1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 57
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 vs ClinVar 1
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
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OXGR1 p.Val46Met
Likely pathogenic
No assertion criteria
nephrolithiasis, calcium oxalate, 2, with or without nephrocalcinosis
Predictors lean, ClinVar uncertain 49
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- OXGR1 p.Ser140Thr Uncertain significance Multiple submitters
- OXGR1 p.Ala155Val Uncertain significance Single submitter
- OXGR1 p.Arg110Cys Uncertain significance Single submitter
- OXGR1 p.Arg110His Uncertain significance Single submitter
- OXGR1 p.Arg148Gln Uncertain significance Single submitter
- OXGR1 p.Arg148Leu Uncertain significance Single submitter
- OXGR1 p.Arg177Gly Uncertain significance Single submitter
- OXGR1 p.Arg241Lys Uncertain significance Single submitter
- OXGR1 p.Arg264Gln Uncertain significance Single submitter
- OXGR1 p.Asn179Lys Uncertain significance Single submitter
- OXGR1 p.Asn199Ser Uncertain significance Single submitter
- OXGR1 p.Asn298Lys Uncertain significance Single submitter
- OXGR1 p.Asn298Ser Uncertain significance Single submitter
- OXGR1 p.Asn324Ile Uncertain significance Single submitter
- OXGR1 p.Asn335Ile Uncertain significance Single submitter
- OXGR1 p.Asn336His Uncertain significance Single submitter
- OXGR1 p.Asp13Tyr Uncertain significance Single submitter
- OXGR1 p.Asp232Glu Uncertain significance Single submitter
- OXGR1 p.Cys133Arg Uncertain significance Single submitter
- OXGR1 p.Cys274Phe Uncertain significance Single submitter
- OXGR1 p.Glu266Lys Uncertain significance Single submitter
- OXGR1 p.Glu277Asp Uncertain significance Single submitter
- OXGR1 p.Glu27Lys Uncertain significance Single submitter
- OXGR1 p.His227Tyr Uncertain significance Single submitter
- OXGR1 p.Ile144Val Uncertain significance Single submitter
- OXGR1 p.Ile195Val Uncertain significance Single submitter
- OXGR1 p.Ile42Val Uncertain significance Single submitter
- OXGR1 p.Leu162Pro Uncertain significance Single submitter
- OXGR1 p.Leu225Val Uncertain significance Single submitter
- OXGR1 p.Leu293Pro Uncertain significance Single submitter
- OXGR1 p.Leu325Phe Uncertain significance Single submitter
- OXGR1 p.Leu89Met Uncertain significance Single submitter
- OXGR1 p.Met105Thr Uncertain significance Single submitter
- OXGR1 p.Phe21Tyr Uncertain significance Single submitter
- OXGR1 p.Phe254Tyr Uncertain significance Single submitter
- OXGR1 p.Pro167Leu Uncertain significance Single submitter
- OXGR1 p.Ser189Leu Uncertain significance Single submitter
-
OXGR1 p.Ser233Arg
Uncertain significance
Single submitter
nephrolithiasis, calcium oxalate, 2, with or without nephrocalcinosis
- OXGR1 p.Ser273Gly Uncertain significance Single submitter
- OXGR1 p.Ser322Arg Uncertain significance Single submitter
- OXGR1 p.Thr125Ile Uncertain significance Single submitter
- OXGR1 p.Thr187Ile Uncertain significance Single submitter
- OXGR1 p.Thr219Ser Uncertain significance Single submitter
- OXGR1 p.Thr224Ala Uncertain significance Single submitter
- OXGR1 p.Thr25Ala Uncertain significance Single submitter
- OXGR1 p.Tyr17His Uncertain significance Single submitter
- OXGR1 p.Tyr284Cys Uncertain significance Single submitter
- OXGR1 p.Tyr92Cys Uncertain significance Single submitter
- OXGR1 p.Val286Leu Uncertain significance Single submitter
Predictors split 7
The independent predictors disagree with each other — read with care.
- OXGR1 p.Ala76Val Uncertain significance Single submitter
- OXGR1 p.Arg131Cys Uncertain significance Single submitter
- OXGR1 p.Ile159Asn Uncertain significance Single submitter
-
OXGR1 p.Leu75Met
Uncertain significance
Single submitter
nephrolithiasis, calcium oxalate, 2, with or without nephrocalcinosis
- OXGR1 p.Phe88Leu Uncertain significance Single submitter
- OXGR1 p.Ser85Ile Uncertain significance Single submitter
- OXGR1 p.Tyr17Cys Uncertain significance Single submitter
All OXGR1 variants
Pathogenic 2
- p.Cys217Arg No assertion criteria nephrolithiasis, calcium oxalate, 2, with or without nephrocalcinosis
- p.Ser56fs No assertion criteria nephrolithiasis, calcium oxalate, 2, with or without nephrocalcinosis
Likely pathogenic 2
- p.Leu124Arg Single submitter nephrolithiasis, calcium oxalate, 2, with or without nephrocalcinosis
- p.Val46Met No assertion criteria nephrolithiasis, calcium oxalate, 2, with or without nephrocalcinosis ⚠
Benign 1
- p.Leu45fs Single submitter
Likely benign 3
- p.Asp307Asn Single submitter
- p.Ile109= Single submitter
- p.Val252Ile Single submitter
Uncertain significance 61
- p.Ser140Thr Multiple submitters ⚠
- p.Ala155Val Single submitter ⚠
- p.Ala76Val Single submitter ⚠
- p.Arg110Cys Single submitter ⚠
- p.Arg110His Single submitter ⚠
- p.Arg131Cys Single submitter ⚠
- p.Arg148Gln Single submitter ⚠
- p.Arg148Leu Single submitter ⚠
- p.Arg177Gly Single submitter ⚠
- p.Arg241Lys Single submitter ⚠
- p.Arg264Gln Single submitter ⚠
- p.Arg268Cys Single submitter
- p.Arg268Leu Single submitter
- p.Asn179Lys Single submitter ⚠
- p.Asn199Ser Single submitter ⚠
- p.Asn298Lys Single submitter ⚠
- p.Asn298Ser Single submitter ⚠
- p.Asn324Ile Single submitter ⚠
- p.Asn335Ile Single submitter ⚠
- p.Asn336His Single submitter ⚠
- p.Asp13Tyr Single submitter ⚠
- p.Asp232Glu Single submitter ⚠
- p.Cys133Arg Single submitter ⚠
- p.Cys274Phe Single submitter ⚠
- p.Glu266Lys Single submitter ⚠
- p.Glu277Asp Single submitter ⚠
- p.Glu27Lys Single submitter ⚠
- p.His227Tyr Single submitter ⚠
- p.Ile144Val Single submitter ⚠
- p.Ile159Asn Single submitter ⚠
- p.Ile195Val Single submitter ⚠
- p.Ile42Val Single submitter ⚠
- p.Leu162Pro Single submitter ⚠
- p.Leu225Val Single submitter ⚠
- p.Leu293Pro Single submitter ⚠
- p.Leu325Phe Single submitter ⚠
- p.Leu75Met Single submitter nephrolithiasis, calcium oxalate, 2, with or without nephrocalcinosis ⚠
- p.Leu89Met Single submitter ⚠
- p.Met105Thr Single submitter ⚠
- p.Phe21Tyr Single submitter ⚠
- p.Phe254Tyr Single submitter ⚠
- p.Phe88Leu Single submitter ⚠
- p.Pro167Leu Single submitter ⚠
- p.Ser189Leu Single submitter ⚠
- p.Ser233Arg Single submitter nephrolithiasis, calcium oxalate, 2, with or without nephrocalcinosis ⚠
- p.Ser273Gly Single submitter ⚠
- p.Ser273Ile Single submitter
- p.Ser322Arg Single submitter ⚠
- p.Ser85Ile Single submitter ⚠
- p.Thr125Ile Single submitter ⚠
- p.Thr187Ile Single submitter ⚠
- p.Thr219Ser Single submitter ⚠
- p.Thr224Ala Single submitter ⚠
- p.Thr25Ala Single submitter ⚠
- p.Tyr118Ter Single submitter
- p.Tyr17Cys Single submitter ⚠
- p.Tyr17His Single submitter ⚠
- p.Tyr284Cys Single submitter ⚠
- p.Tyr92Cys Single submitter ⚠
- p.Tyr93Cys Single submitter
- p.Val286Leu Single submitter ⚠