PTGIR — 71 ClinVar variants
All ClinVar germline PTGIR variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 58 flagged for review →
2 Benign · 7 Likely benign · 62 Uncertain significance
Full PTGIR 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 47
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PTGIR p.Ala105Val Uncertain significance Single submitter
- PTGIR p.Ala139Val Uncertain significance Single submitter
- PTGIR p.Ala152Pro Uncertain significance Single submitter
- PTGIR p.Ala249Gly Uncertain significance Single submitter
- PTGIR p.Ala298Val Uncertain significance Single submitter
- PTGIR p.Ala40Thr Uncertain significance Single submitter
- PTGIR p.Ala76Val Uncertain significance Single submitter
- PTGIR p.Ala98Pro Uncertain significance Single submitter
- PTGIR p.Arg117Leu Uncertain significance Single submitter
- PTGIR p.Arg173His Uncertain significance Single submitter
- PTGIR p.Arg175His Uncertain significance Single submitter
- PTGIR p.Arg219Cys Uncertain significance Single submitter
- PTGIR p.Arg227Gln Uncertain significance Single submitter
- PTGIR p.Arg227Trp Uncertain significance Single submitter
- PTGIR p.Arg41Gln Uncertain significance Single submitter
- PTGIR p.Arg42Gln Uncertain significance Single submitter
- PTGIR p.Arg45Cys Uncertain significance Single submitter
- PTGIR p.Asp274Gly Uncertain significance Single submitter
- PTGIR p.Cys135Gly Uncertain significance Single submitter
- PTGIR p.Glu358Lys Uncertain significance Single submitter
- PTGIR p.Gly180Ser Uncertain significance Single submitter
- PTGIR p.Gly204Ser Uncertain significance Single submitter
- PTGIR p.Gly27Cys Uncertain significance Single submitter
- PTGIR p.Gly317Arg Uncertain significance Single submitter
- PTGIR p.Gly355Glu Uncertain significance Single submitter
- PTGIR p.Gly368Ser Uncertain significance Single submitter
- PTGIR p.Leu22Gln Uncertain significance Single submitter
- PTGIR p.Leu287Pro Uncertain significance Single submitter
- PTGIR p.Phe101Val Uncertain significance Single submitter
- PTGIR p.Phe111Ser Uncertain significance Single submitter
- PTGIR p.Phe49Leu Uncertain significance Single submitter
- PTGIR p.Pro228Leu Uncertain significance Single submitter
- PTGIR p.Pro43Leu Uncertain significance Single submitter
- PTGIR p.Pro46Leu Uncertain significance Single submitter
- PTGIR p.Pro69Arg Uncertain significance Single submitter
- PTGIR p.Ser223Phe Uncertain significance Single submitter
- PTGIR p.Ser350Leu Uncertain significance Single submitter
- PTGIR p.Ser350Pro Uncertain significance Single submitter
- PTGIR p.Ser384Phe Uncertain significance Single submitter
- PTGIR p.Ser65Gly Uncertain significance Single submitter
- PTGIR p.Ser79Thr Uncertain significance Single submitter
- PTGIR p.Thr373Met Uncertain significance Single submitter
- PTGIR p.Trp306Ser Uncertain significance Single submitter
- PTGIR p.Val11Leu Uncertain significance Single submitter
- PTGIR p.Val291Ile Uncertain significance Single submitter
- PTGIR p.Val347Met Uncertain significance Single submitter
- PTGIR p.Val371Met Uncertain significance Single submitter
Predictors split 11
The independent predictors disagree with each other — read with care.
- PTGIR p.Ala139Gly Uncertain significance Single submitter
- PTGIR p.Arg134His Uncertain significance Single submitter
- PTGIR p.Arg173Cys Uncertain significance Single submitter
- PTGIR p.Arg258Cys Uncertain significance Single submitter
- PTGIR p.Gly157Asp Uncertain significance Single submitter
- PTGIR p.Gly32Arg Uncertain significance Single submitter
- PTGIR p.Gly36Asp Uncertain significance Single submitter
- PTGIR p.His237Tyr Uncertain significance Single submitter
- PTGIR p.Leu155Pro Uncertain significance Single submitter
- PTGIR p.Leu275Phe Uncertain significance Single submitter
- PTGIR p.Met23Ile Uncertain significance Single submitter
All PTGIR variants
Benign 2
- p.Ser319Trp Multiple submitters
- p.Thr373= Multiple submitters
Likely benign 7
- p.Cys346= Multiple submitters
- p.Met107Thr Multiple submitters
- p.Ala152Ser Single submitter
- p.Ala327Thr Single submitter
- p.Ala370Thr Single submitter
- p.Gly313Arg Single submitter
- p.Ser369= Single submitter
Uncertain significance 62
- p.Ala105Val Single submitter ⚠
- p.Ala139Gly Single submitter ⚠
- p.Ala139Val Single submitter ⚠
- p.Ala152Pro Single submitter ⚠
- p.Ala249Gly Single submitter ⚠
- p.Ala298Val Single submitter ⚠
- p.Ala40Thr Single submitter ⚠
- p.Ala76Val Single submitter ⚠
- p.Ala98Pro Single submitter ⚠
- p.Arg117Leu Single submitter ⚠
- p.Arg134His Single submitter ⚠
- p.Arg173Cys Single submitter ⚠
- p.Arg173His Single submitter ⚠
- p.Arg175Cys Single submitter
- p.Arg175His Single submitter ⚠
- p.Arg219Cys Single submitter ⚠
- p.Arg227Gln Single submitter ⚠
- p.Arg227Trp Single submitter ⚠
- p.Arg258Cys Single submitter ⚠
- p.Arg296His Single submitter
- p.Arg41Gln Single submitter ⚠
- p.Arg42Gln Single submitter ⚠
- p.Arg45Cys Single submitter ⚠
- p.Asp274Gly Single submitter ⚠
- p.Cys135Gly Single submitter ⚠
- p.Glu358Lys Single submitter ⚠
- p.Gly157Asp Single submitter ⚠
- p.Gly180Ser Single submitter ⚠
- p.Gly204Ser Single submitter ⚠
- p.Gly27Cys Single submitter ⚠
- p.Gly317Arg Single submitter ⚠
- p.Gly32Arg Single submitter ⚠
- p.Gly355Glu Single submitter ⚠
- p.Gly368Ser Single submitter ⚠
- p.Gly36Asp Single submitter ⚠
- p.His237Tyr Single submitter ⚠
- p.Leu155Pro Single submitter ⚠
- p.Leu22Gln Single submitter ⚠
- p.Leu275Phe Single submitter ⚠
- p.Leu287Pro Single submitter ⚠
- p.Met23Ile Single submitter ⚠
- p.Phe101Val Single submitter ⚠
- p.Phe111Ser Single submitter ⚠
- p.Phe49Leu Single submitter ⚠
- p.Pro228Leu Single submitter ⚠
- p.Pro43Leu Single submitter ⚠
- p.Pro46Leu Single submitter ⚠
- p.Pro69Arg Single submitter ⚠
- p.Ser223Phe Single submitter ⚠
- p.Ser350Leu Single submitter ⚠
- p.Ser350Pro Single submitter ⚠
- p.Ser384Phe Single submitter ⚠
- p.Ser65Gly Single submitter ⚠
- p.Ser79Thr Single submitter ⚠
- p.Thr100Ile Single submitter
- p.Thr373Met Single submitter ⚠
- p.Thr64Ala Single submitter
- p.Trp306Ser Single submitter ⚠
- p.Val11Leu Single submitter ⚠
- p.Val291Ile Single submitter ⚠
- p.Val347Met Single submitter ⚠
- p.Val371Met Single submitter ⚠