PTPRG — 258 ClinVar variants

All ClinVar germline PTPRG variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 217 flagged for review →

4 Benign · 27 Likely benign · 227 Uncertain significance

Full PTPRG gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 217

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 191

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 191

Predictors split 26

The independent predictors disagree with each other — read with care.

All PTPRG variants

Benign 4

p.His412= Multiple submitters
p.Leu14= Multiple submitters
p.Pro58= Multiple submitters
p.Val1088Ile Single submitter

Likely benign 27

p.Asn429= Multiple submitters
c.3766-12_3766-11insTTTTTTTTTTTTTTTTT Single submitter
c.3766-12_3766-11insTTTTTTTTTTTTTTTTTTTT Single submitter
c.3766-12_3766-11insTTTTTTTTTTTTTTTTTTTTTT Single submitter
c.3766-12_3766-11insTTTTTTTTTTTTTTTTTTTTTTT Single submitter
c.3766-12_3766-11insTTTTTTTTTTTTTTTTTTTTTTTT Single submitter
c.3766-12_3766-11insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT Single submitter
c.3766-12_3766-11insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT Single submitter
c.3766-12_3766-11insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT Single submitter
p.Arg618Gln Single submitter
p.Arg712Lys Single submitter
p.Arg81His Single submitter
p.Asn631= Single submitter
p.Asp392= Single submitter
p.Glu1352= Single submitter
p.Ile1403Val Single submitter
p.Ile86Val Single submitter
p.Ile996Val Single submitter
p.Pro539= Single submitter
p.Pro551= Single submitter
p.Ser433= Single submitter
p.Thr189= Single submitter
p.Thr258= Single submitter
p.Thr514= Single submitter
p.Thr679= Single submitter
p.Val651Ile Single submitter
p.Arg1049Gln No assertion criteria EBV-positive nodal T- and NK-cell lymphoma

Uncertain significance 227

p.Ala614Thr Multiple submitters ⚠
p.Ile1333Thr Multiple submitters ⚠
p.Ala1062Thr Single submitter ⚠
p.Ala1190Thr Single submitter ⚠
p.Ala1243Thr Single submitter ⚠
p.Ala1243Val Single submitter ⚠
p.Ala1274Val Single submitter
p.Ala137Thr Single submitter ⚠
p.Ala1383Val Single submitter ⚠
p.Ala283Ser Single submitter ⚠
p.Ala29Val Single submitter ⚠
p.Ala321Thr Single submitter ⚠
p.Ala46Thr Single submitter ⚠
p.Ala517Thr Single submitter
p.Ala542Thr Single submitter ⚠
p.Ala548Val Single submitter ⚠
p.Ala554Asp Single submitter ⚠
p.Ala558Gly Single submitter ⚠
p.Ala662Thr Single submitter ⚠
p.Ala757Val Single submitter ⚠
p.Ala885Pro Single submitter ⚠
p.Ala920Val Single submitter ⚠
p.Ala93Ser Single submitter ⚠
p.Arg1012His Single submitter ⚠
p.Arg1099His Single submitter ⚠
p.Arg1189His Single submitter
p.Arg1191Gln Single submitter ⚠
p.Arg1236Gln Single submitter ⚠
p.Arg271Trp Single submitter ⚠
p.Arg2Gln Single submitter ⚠
p.Arg311Cys Single submitter ⚠
p.Arg311His Single submitter ⚠
p.Arg323His Single submitter ⚠
p.Arg323Leu Single submitter ⚠
p.Arg428Gly Single submitter ⚠
p.Arg428Trp Single submitter ⚠
p.Arg52Cys Single submitter ⚠
p.Arg537His Single submitter ⚠
p.Arg593Pro Single submitter ⚠
p.Arg703Cys Single submitter ⚠
p.Arg734Lys Single submitter ⚠
p.Arg734Thr Single submitter ⚠
p.Arg776His Single submitter ⚠
p.Arg857His Single submitter ⚠
p.Arg894Ile Single submitter ⚠
p.Arg937Gly Single submitter ⚠
p.Arg993Cys Single submitter ⚠
p.Asn109Asp Single submitter ⚠
p.Asn1289Ser Single submitter ⚠
p.Asn1387Ser Single submitter ⚠
p.Asn156Ser Single submitter ⚠
p.Asn166Ser Single submitter ⚠
p.Asn194Lys Single submitter ⚠
p.Asn304His Single submitter ⚠
p.Asn41Lys Single submitter ⚠
p.Asn631Asp Single submitter ⚠
p.Asn813Asp Single submitter ⚠
p.Asn844Ile Single submitter ⚠
p.Asp105Asn Single submitter ⚠
p.Asp105Val Single submitter ⚠
p.Asp1233Tyr Single submitter ⚠
p.Asp131Ala Single submitter
p.Asp131Asn Single submitter ⚠
p.Asp234Glu Single submitter ⚠
p.Asp405Asn Single submitter ⚠
p.Asp565His Single submitter ⚠
p.Asp57Asn Single submitter ⚠
p.Asp669Asn Single submitter ⚠
p.Asp705Asn Single submitter ⚠
p.Asp705Tyr Single submitter ⚠
p.Cys1160Tyr Single submitter ⚠
p.Cys794Tyr Single submitter ⚠
p.Gln1013Glu Single submitter ⚠
p.Gln1025Glu Single submitter
p.Gln1098His Single submitter ⚠
p.Gln1131His Single submitter ⚠
p.Gln48Glu Single submitter ⚠
p.Gln48His Single submitter ⚠
p.Gln655Glu Single submitter ⚠
p.Glu1291Lys Single submitter ⚠
p.Glu32Gly Single submitter ⚠
p.Glu371Lys Single submitter ⚠
p.Glu575Lys Single submitter ⚠
p.Glu578Lys Single submitter ⚠
p.Glu579Gly Single submitter ⚠
p.Glu584Asp Single submitter ⚠
p.Glu592Asp Single submitter ⚠
p.Glu596Lys Single submitter ⚠
p.Glu597Lys Single submitter ⚠
p.Glu604Lys Single submitter ⚠
p.Glu635Lys Single submitter ⚠
p.Glu6Gln Single submitter ⚠
p.Glu720Gly Single submitter ⚠
p.Gly106Asp Single submitter ⚠
p.Gly1145Glu Single submitter ⚠
p.Gly1202Glu Single submitter ⚠
p.Gly1345Arg Single submitter ⚠
p.Gly157Asp Single submitter ⚠
p.Gly157Val Single submitter ⚠
p.Gly220Ala Single submitter ⚠
p.Gly247Ser Single submitter ⚠
p.Gly44Asp Single submitter ⚠
p.Gly44Cys Single submitter ⚠
p.Gly518Ser Single submitter ⚠
p.Gly591Glu Single submitter ⚠
p.Gly663Ser Single submitter ⚠
p.His1094Arg Single submitter ⚠
p.His1241Arg Single submitter ⚠
p.His1350Arg Single submitter ⚠
p.His648Arg Single submitter ⚠
p.His70Tyr Single submitter ⚠
p.His799Arg Single submitter ⚠
p.His871Leu Single submitter ⚠
p.Ile1071Val Single submitter ⚠
p.Ile1080Leu Single submitter ⚠
p.Ile1120Val Single submitter ⚠
p.Ile1141Thr Single submitter ⚠
p.Ile1222Val Single submitter ⚠
p.Ile126Val Single submitter ⚠
p.Ile1333Val Single submitter ⚠
p.Ile1431Ser Single submitter ⚠
p.Ile1431Thr Single submitter ⚠
p.Ile165Val Single submitter ⚠
p.Ile191Val Single submitter ⚠
p.Ile202Met Single submitter ⚠
p.Ile268Leu Single submitter ⚠
p.Ile268Met Single submitter ⚠
p.Ile287Val Single submitter ⚠
p.Ile738Thr Single submitter ⚠
p.Ile742Met Single submitter ⚠
p.Ile818Leu Single submitter ⚠
p.Ile821Leu Single submitter ⚠
p.Ile837Val Single submitter ⚠
p.Ile947Val Single submitter ⚠
p.Leu1039Pro Single submitter ⚠
p.Leu1194Pro Single submitter ⚠
p.Leu21Pro Single submitter ⚠
p.Leu30Ser Single submitter ⚠
p.Leu338Val Single submitter ⚠
p.Leu752Val Single submitter ⚠
p.Leu755Val Single submitter ⚠
p.Lys1155Met Single submitter ⚠
p.Lys1178Asn Single submitter ⚠
p.Lys1414Glu Single submitter ⚠
p.Lys147Arg Single submitter ⚠
p.Lys222Met Single submitter ⚠
p.Lys835Arg Single submitter ⚠
p.Met1237Thr Single submitter ⚠
p.Met1407Lys Single submitter ⚠
p.Met200Val Single submitter ⚠
p.Met330Ile Single submitter ⚠
p.Met431Thr Single submitter ⚠
p.Met825Ile Single submitter ⚠
p.Phe143Tyr Single submitter
p.Phe398Tyr Single submitter ⚠
p.Phe489Val Single submitter ⚠
p.Phe932Leu Single submitter ⚠
p.Pro1322Ala Single submitter ⚠
p.Pro1325Arg Single submitter ⚠
p.Pro1420Ser Single submitter ⚠
p.Pro376Ala Single submitter ⚠
p.Pro377Arg Single submitter
p.Pro464His Single submitter
p.Pro58Ser Single submitter ⚠
p.Pro625Thr Single submitter ⚠
p.Pro627His Single submitter ⚠
p.Pro630Ala Single submitter ⚠
p.Pro642Leu Single submitter ⚠
p.Pro678His Single submitter ⚠
p.Pro730His Single submitter ⚠
p.Ser1061Gly Single submitter ⚠
p.Ser1134Asn Single submitter ⚠
p.Ser135Arg Single submitter ⚠
p.Ser155Gly Single submitter ⚠
p.Ser158Pro Single submitter
p.Ser192Phe Single submitter ⚠
p.Ser207Thr Single submitter ⚠
p.Ser245Phe Single submitter ⚠
p.Ser245Thr Single submitter ⚠
p.Ser411Arg Single submitter ⚠
p.Ser561Tyr Single submitter ⚠
p.Ser568Leu Single submitter ⚠
p.Ser628Ala Single submitter ⚠
p.Ser629Thr Single submitter ⚠
p.Ser688Arg Single submitter ⚠
p.Ser75Gly Single submitter ⚠
p.Ser75Thr Single submitter ⚠
p.Ser783Tyr Single submitter ⚠
p.Ser791Asn Single submitter ⚠
p.Ser805Asn Single submitter ⚠
p.Ser889Gly Single submitter ⚠
p.Ser904Arg Single submitter ⚠
p.Thr1223Pro Single submitter ⚠
p.Thr1231Met Single submitter ⚠
p.Thr1347Ala Single submitter ⚠
p.Thr1365Ala Single submitter ⚠
p.Thr17Ala Single submitter ⚠
p.Thr397Met Single submitter ⚠
p.Thr481Met Single submitter
p.Thr612Ile Single submitter ⚠
p.Thr979Met Single submitter ⚠
p.Trp9Ser Single submitter ⚠
p.Tyr1101Cys Single submitter ⚠
p.Tyr1215Phe Single submitter ⚠
p.Tyr1353Cys Single submitter ⚠
p.Tyr59Cys Single submitter ⚠
p.Tyr66Ser Single submitter ⚠
p.Tyr880Phe Single submitter ⚠
p.Tyr921Phe Single submitter ⚠
p.Val1144Gly Single submitter ⚠
p.Val1247Leu Single submitter ⚠
p.Val1277Ile Single submitter ⚠
p.Val1335Ile Single submitter ⚠
p.Val1377Leu Single submitter ⚠
p.Val148Met Single submitter ⚠
p.Val20Leu Single submitter ⚠
p.Val24Ala Single submitter ⚠
p.Val345Ala Single submitter ⚠
p.Val345Gly Single submitter ⚠
p.Val35Ala Single submitter ⚠
p.Val510Leu Single submitter ⚠
p.Val611Met Single submitter ⚠
p.Val750Met Single submitter ⚠
p.Val811Phe Single submitter ⚠
p.Val95Asp Single submitter ⚠
p.Val95Ile Single submitter ⚠
p.Val95Phe Single submitter ⚠