PTGDR — 61 ClinVar variants
All ClinVar germline PTGDR variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 48 flagged for review →
1 Benign · 6 Likely benign · 54 Uncertain significance
Full PTGDR gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 48
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 44
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PTGDR p.Ala107Asp Uncertain significance Single submitter
- PTGDR p.Ala162Thr Uncertain significance Single submitter
- PTGDR p.Ala20Val Uncertain significance Single submitter
- PTGDR p.Ala248Val Uncertain significance Single submitter
- PTGDR p.Ala268Glu Uncertain significance Single submitter
- PTGDR p.Ala99Ser Uncertain significance Single submitter
- PTGDR p.Arg223Gly Uncertain significance Single submitter
- PTGDR p.Arg237Cys Uncertain significance Single submitter
- PTGDR p.Arg237His Uncertain significance Single submitter
- PTGDR p.Arg241Gly Uncertain significance Single submitter
- PTGDR p.Arg247His Uncertain significance Single submitter
- PTGDR p.Arg310Gln Uncertain significance Single submitter
- PTGDR p.Arg332Trp Uncertain significance Single submitter
- PTGDR p.Arg52Cys Uncertain significance Single submitter
- PTGDR p.Arg94Pro Uncertain significance Single submitter
- PTGDR p.Asn34Ser Uncertain significance Single submitter
- PTGDR p.Glu191Lys Uncertain significance Single submitter
- PTGDR p.Gly172Arg Uncertain significance Single submitter
- PTGDR p.Gly250Trp Uncertain significance Single submitter
- PTGDR p.His229Arg Uncertain significance Single submitter
- PTGDR p.Ile340Phe Uncertain significance Single submitter
- PTGDR p.Leu266Met Uncertain significance Single submitter
- PTGDR p.Leu36Pro Uncertain significance Single submitter
- PTGDR p.Lys291Asn Uncertain significance Single submitter
- PTGDR p.Met22Thr Uncertain significance Single submitter
- PTGDR p.Met270Val Uncertain significance Single submitter
- PTGDR p.Met276Ile Uncertain significance Single submitter
- PTGDR p.Met355Thr Uncertain significance Single submitter
- PTGDR p.Phe171Val Uncertain significance Single submitter
- PTGDR p.Pro137Arg Uncertain significance Single submitter
- PTGDR p.Pro137Leu Uncertain significance Single submitter
- PTGDR p.Pro4Leu Uncertain significance Single submitter
- PTGDR p.Ser195Leu Uncertain significance Single submitter
- PTGDR p.Ser19Leu Uncertain significance Single submitter
- PTGDR p.Ser352Phe Uncertain significance Single submitter
- PTGDR p.Ser358Cys Uncertain significance Single submitter
- PTGDR p.Ser59Ala Uncertain significance Single submitter
- PTGDR p.Thr11Ile Uncertain significance Single submitter
- PTGDR p.Trp321Ser Uncertain significance Single submitter
- PTGDR p.Tyr199Phe Uncertain significance Single submitter
- PTGDR p.Tyr6Phe Uncertain significance Single submitter
- PTGDR p.Val314Leu Uncertain significance Single submitter
- PTGDR p.Val330Leu Uncertain significance Single submitter
- PTGDR p.Val95Met Uncertain significance Single submitter
Predictors split 4
The independent predictors disagree with each other — read with care.
All PTGDR variants
Benign 1
- p.Arg7Cys Multiple submitters
Likely benign 6
- p.Ala253Gly Single submitter
- p.Ala97Val Single submitter
- p.Arg332Gln Single submitter
- p.Met355Val Single submitter
- p.Met63Val Single submitter
- p.Pro329Ser Single submitter
Uncertain significance 54
- p.Ala107Asp Single submitter ⚠
- p.Ala162Thr Single submitter ⚠
- p.Ala20Val Single submitter ⚠
- p.Ala248Val Single submitter ⚠
- p.Ala268Glu Single submitter ⚠
- p.Ala99Ser Single submitter ⚠
- p.Arg223Gly Single submitter ⚠
- p.Arg230Pro Single submitter ⚠
- p.Arg237Cys Single submitter ⚠
- p.Arg237His Single submitter ⚠
- p.Arg241Gly Single submitter ⚠
- p.Arg247His Single submitter ⚠
- p.Arg310Gln Single submitter ⚠
- p.Arg310Leu Single submitter
- p.Arg332Trp Single submitter ⚠
- p.Arg52Cys Single submitter ⚠
- p.Arg94Pro Single submitter ⚠
- p.Asn34Ser Single submitter ⚠
- p.Asp262Ala Single submitter
- p.Glu191Lys Single submitter ⚠
- p.Glu302Lys Single submitter ⚠
- p.Gly172Arg Single submitter ⚠
- p.Gly250Trp Single submitter ⚠
- p.His229Arg Single submitter ⚠
- p.Ile340Phe Single submitter ⚠
- p.Leu266Met Single submitter ⚠
- p.Leu36Pro Single submitter ⚠
- p.Lys291Asn Single submitter ⚠
- p.Met112Thr Single submitter
- p.Met187Ile Single submitter ⚠
- p.Met22Thr Single submitter ⚠
- p.Met270Val Single submitter ⚠
- p.Met276Ile Single submitter ⚠
- p.Met355Thr Single submitter ⚠
- p.Phe114Leu Single submitter asthma-related traits, susceptibility to, 1 ⚠
- p.Phe171Val Single submitter ⚠
- p.Pro137Arg Single submitter ⚠
- p.Pro137Leu Single submitter ⚠
- p.Pro4Leu Single submitter ⚠
- p.Ser195Leu Single submitter ⚠
- p.Ser19Leu Single submitter ⚠
- p.Ser204Pro Single submitter
- p.Ser352Phe Single submitter ⚠
- p.Ser358Cys Single submitter ⚠
- p.Ser59Ala Single submitter ⚠
- p.Ser59Leu Single submitter
- p.Thr11Ile Single submitter ⚠
- p.Trp321Ser Single submitter ⚠
- p.Tyr199Phe Single submitter ⚠
- p.Tyr6Phe Single submitter ⚠
- p.Val314Leu Single submitter ⚠
- p.Val330Leu Single submitter ⚠
- p.Val95Met Single submitter ⚠
- p.Arg310Ter No assertion criteria