PTAR1 — 48 ClinVar variants
All ClinVar germline PTAR1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 47 flagged for review →
1 Likely benign · 47 Uncertain significance
Full PTAR1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 47
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 40
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PTAR1 p.Ala335Pro Uncertain significance Single submitter
- PTAR1 p.Ala335Thr Uncertain significance Single submitter
- PTAR1 p.Arg175Gln Uncertain significance Single submitter
- PTAR1 p.Arg201Cys Uncertain significance Single submitter
- PTAR1 p.Arg240Cys Uncertain significance Single submitter
- PTAR1 p.Arg317Trp Uncertain significance Single submitter
- PTAR1 p.Arg372Lys Uncertain significance Single submitter
- PTAR1 p.Arg382Gln Uncertain significance Single submitter
- PTAR1 p.Arg382Trp Uncertain significance Single submitter
- PTAR1 p.Arg76Lys Uncertain significance Single submitter
- PTAR1 p.Arg84Gly Uncertain significance Single submitter
- PTAR1 p.Asp304Val Uncertain significance Single submitter
- PTAR1 p.Asp30Gly Uncertain significance Single submitter
- PTAR1 p.Asp343Ala Uncertain significance Single submitter
- PTAR1 p.Gln174Arg Uncertain significance Single submitter
- PTAR1 p.Gln351Arg Uncertain significance Single submitter
- PTAR1 p.Glu182Asp Uncertain significance Single submitter
- PTAR1 p.Glu276Asp Uncertain significance Single submitter
- PTAR1 p.Glu293Lys Uncertain significance Single submitter
- PTAR1 p.Glu294Asp Uncertain significance Single submitter
- PTAR1 p.His318Arg Uncertain significance Single submitter
- PTAR1 p.Ile112Thr Uncertain significance Single submitter
- PTAR1 p.Ile215Phe Uncertain significance Single submitter
- PTAR1 p.Ile248Phe Uncertain significance Single submitter
- PTAR1 p.Ile248Thr Uncertain significance Single submitter
- PTAR1 p.Leu74Ser Uncertain significance Single submitter
- PTAR1 p.Lys132Glu Uncertain significance Single submitter
- PTAR1 p.Lys71Arg Uncertain significance Single submitter
- PTAR1 p.Met336Val Uncertain significance Single submitter
- PTAR1 p.Pro262Ser Uncertain significance Single submitter
- PTAR1 p.Pro289Ala Uncertain significance Single submitter
- PTAR1 p.Ser330Phe Uncertain significance Single submitter
- PTAR1 p.Ser401Asn Uncertain significance Single submitter
- PTAR1 p.Ser45Asn Uncertain significance Single submitter
- PTAR1 p.Thr223Ala Uncertain significance Single submitter
- PTAR1 p.Thr91Ile Uncertain significance Single submitter
- PTAR1 p.Val231Ile Uncertain significance Single submitter
- PTAR1 p.Val252Met Uncertain significance Single submitter
- PTAR1 p.Val398Asp Uncertain significance Single submitter
- PTAR1 p.Val50Leu Uncertain significance Single submitter
Predictors split 7
The independent predictors disagree with each other — read with care.
- PTAR1 p.Arg355His Uncertain significance Single submitter
- PTAR1 p.Arg358Trp Uncertain significance Single submitter
- PTAR1 p.Arg44Trp Uncertain significance Single submitter
- PTAR1 p.Asp122Asn Uncertain significance Single submitter
- PTAR1 p.Asp85Tyr Uncertain significance Single submitter
- PTAR1 p.Cys37Gly Uncertain significance Single submitter
- PTAR1 p.Val107Met Uncertain significance Single submitter
All PTAR1 variants
Likely benign 1
- p.Pro271Leu Single submitter
Uncertain significance 47
- p.Ala335Pro Single submitter ⚠
- p.Ala335Thr Single submitter ⚠
- p.Arg175Gln Single submitter ⚠
- p.Arg201Cys Single submitter ⚠
- p.Arg240Cys Single submitter ⚠
- p.Arg317Trp Single submitter ⚠
- p.Arg355His Single submitter ⚠
- p.Arg358Trp Single submitter ⚠
- p.Arg372Lys Single submitter ⚠
- p.Arg382Gln Single submitter ⚠
- p.Arg382Trp Single submitter ⚠
- p.Arg44Trp Single submitter ⚠
- p.Arg76Lys Single submitter ⚠
- p.Arg84Gly Single submitter ⚠
- p.Asp122Asn Single submitter ⚠
- p.Asp304Val Single submitter ⚠
- p.Asp30Gly Single submitter ⚠
- p.Asp343Ala Single submitter ⚠
- p.Asp85Tyr Single submitter ⚠
- p.Cys37Gly Single submitter ⚠
- p.Gln174Arg Single submitter ⚠
- p.Gln351Arg Single submitter ⚠
- p.Glu182Asp Single submitter ⚠
- p.Glu276Asp Single submitter ⚠
- p.Glu293Lys Single submitter ⚠
- p.Glu294Asp Single submitter ⚠
- p.His318Arg Single submitter ⚠
- p.Ile112Thr Single submitter ⚠
- p.Ile215Phe Single submitter ⚠
- p.Ile248Phe Single submitter ⚠
- p.Ile248Thr Single submitter ⚠
- p.Leu74Ser Single submitter ⚠
- p.Lys132Glu Single submitter ⚠
- p.Lys71Arg Single submitter ⚠
- p.Met336Val Single submitter ⚠
- p.Pro262Ser Single submitter ⚠
- p.Pro289Ala Single submitter ⚠
- p.Ser330Phe Single submitter ⚠
- p.Ser401Asn Single submitter ⚠
- p.Ser45Asn Single submitter ⚠
- p.Thr223Ala Single submitter ⚠
- p.Thr91Ile Single submitter ⚠
- p.Val107Met Single submitter ⚠
- p.Val231Ile Single submitter ⚠
- p.Val252Met Single submitter ⚠
- p.Val398Asp Single submitter ⚠
- p.Val50Leu Single submitter ⚠