PTPRJ — 215 ClinVar variants
All ClinVar germline PTPRJ variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 161 flagged for review →
3 Pathogenic · 2 Conflicting · 8 Benign · 41 Likely benign · 161 Uncertain significance
Full PTPRJ gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 161
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.
-
PTPRJ p.Arg214Cys
Pathogenic
No assertion criteria
colon carcinoma
Predictors agree, ClinVar conflicts 2
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
Predictors lean, ClinVar uncertain 127
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PTPRJ p.Gln356Arg Uncertain significance Multiple submitters
- PTPRJ p.Gly773Asp Uncertain significance Multiple submitters
- PTPRJ p.Ala1003Glu Uncertain significance Single submitter
- PTPRJ p.Ala1003Thr Uncertain significance Single submitter
- PTPRJ p.Ala1324Glu Uncertain significance Single submitter
- PTPRJ p.Ala542Val Uncertain significance Single submitter
- PTPRJ p.Arg1081Cys Uncertain significance Single submitter
- PTPRJ p.Arg1254Cys Uncertain significance Single submitter
- PTPRJ p.Arg1254His Uncertain significance Single submitter
- PTPRJ p.Arg177Cys Uncertain significance Single submitter
- PTPRJ p.Arg340Pro Uncertain significance Single submitter
- PTPRJ p.Arg418Cys Uncertain significance Single submitter
- PTPRJ p.Arg461Leu Uncertain significance Single submitter
- PTPRJ p.Arg712Gln Uncertain significance Single submitter
- PTPRJ p.Arg806Trp Uncertain significance Single submitter
- PTPRJ p.Arg894Cys Uncertain significance Single submitter
- PTPRJ p.Arg894His Uncertain significance Single submitter
- PTPRJ p.Arg959Cys Uncertain significance Single submitter
- PTPRJ p.Asn1038Asp Uncertain significance Single submitter
- PTPRJ p.Asn1072Thr Uncertain significance Single submitter
- PTPRJ p.Asn1098Ser Uncertain significance Single submitter
- PTPRJ p.Asn1292His Uncertain significance Single submitter
- PTPRJ p.Asn172Asp Uncertain significance Single submitter
- PTPRJ p.Asn278Asp Uncertain significance Single submitter
- PTPRJ p.Asn342Ser Uncertain significance Single submitter
- PTPRJ p.Asn525Asp Uncertain significance Single submitter
- PTPRJ p.Asn536Ser Uncertain significance Single submitter
-
PTPRJ p.Asn666Asp
Uncertain significance
Single submitter
PTPRJ-related disorder
- PTPRJ p.Asn760Ile Uncertain significance Single submitter
- PTPRJ p.Asn831His Uncertain significance Single submitter
- PTPRJ p.Asp1286His Uncertain significance Single submitter
- PTPRJ p.Asp252Asn Uncertain significance Single submitter
- PTPRJ p.Asp564Asn Uncertain significance Single submitter
- PTPRJ p.Asp94Asn Uncertain significance Single submitter
- PTPRJ p.Asp969Asn Uncertain significance Single submitter
- PTPRJ p.Gln267Leu Uncertain significance Single submitter
- PTPRJ p.Gln358Arg Uncertain significance Single submitter
- PTPRJ p.Gln488His Uncertain significance Single submitter
- PTPRJ p.Glu336Gln Uncertain significance Single submitter
- PTPRJ p.Glu361Lys Uncertain significance Single submitter
- PTPRJ p.Glu442Gln Uncertain significance Single submitter
- PTPRJ p.Glu55Gly Uncertain significance Single submitter
- PTPRJ p.Glu728Lys Uncertain significance Single submitter
- PTPRJ p.Glu891Gly Uncertain significance Single submitter
- PTPRJ p.Gly1102Asp Uncertain significance Single submitter
- PTPRJ p.Gly1244Arg Uncertain significance Single submitter
- PTPRJ p.Gly191Ser Uncertain significance Single submitter
- PTPRJ p.Gly219Arg Uncertain significance Single submitter
- PTPRJ p.Gly423Arg Uncertain significance Single submitter
- PTPRJ p.Gly711Val Uncertain significance Single submitter
- PTPRJ p.Gly821Ala Uncertain significance Single submitter
- PTPRJ p.Gly857Arg Uncertain significance Single submitter
- PTPRJ p.Gly860Asp Uncertain significance Single submitter
- PTPRJ p.Gly860Cys Uncertain significance Single submitter
- PTPRJ p.Gly950Arg Uncertain significance Single submitter
- PTPRJ p.His1089Arg Uncertain significance Single submitter
- PTPRJ p.His1199Asn Uncertain significance Single submitter
-
PTPRJ p.His155Tyr
Uncertain significance
Single submitter
PTPRJ-related disorder
- PTPRJ p.His861Gln Uncertain significance Single submitter
- PTPRJ p.Ile1164Val Uncertain significance Single submitter
- PTPRJ p.Ile1172Thr Uncertain significance Single submitter
- PTPRJ p.Ile1259Met Uncertain significance Single submitter
- PTPRJ p.Ile1336Asn Uncertain significance Single submitter
- PTPRJ p.Ile136Val Uncertain significance Single submitter
- PTPRJ p.Ile243Thr Uncertain significance Single submitter
- PTPRJ p.Ile360Thr Uncertain significance Single submitter
- PTPRJ p.Ile506Thr Uncertain significance Single submitter
- PTPRJ p.Ile575Val Uncertain significance Single submitter
-
PTPRJ p.Ile58Leu
Uncertain significance
Single submitter
PTPRJ-related disorder
- PTPRJ p.Ile606Val Uncertain significance Single submitter
- PTPRJ p.Leu239Phe Uncertain significance Single submitter
- PTPRJ p.Lys1014Gln Uncertain significance Single submitter
- PTPRJ p.Lys1032Arg Uncertain significance Single submitter
- PTPRJ p.Lys222Arg Uncertain significance Single submitter
- PTPRJ p.Lys222Asn Uncertain significance Single submitter
- PTPRJ p.Lys281Asn Uncertain significance Single submitter
- PTPRJ p.Lys848Ile Uncertain significance Single submitter
- PTPRJ p.Lys868Ile Uncertain significance Single submitter
- PTPRJ p.Phe1041Ile Uncertain significance Single submitter
- PTPRJ p.Phe68Cys Uncertain significance Single submitter
- PTPRJ p.Pro1154His Uncertain significance Single submitter
- PTPRJ p.Pro132Ala Uncertain significance Single submitter
- PTPRJ p.Pro169Ser Uncertain significance Single submitter
- PTPRJ p.Pro207Leu Uncertain significance Single submitter
- PTPRJ p.Pro44Thr Uncertain significance Single submitter
- PTPRJ p.Pro453Leu Uncertain significance Single submitter
- PTPRJ p.Pro456Ala Uncertain significance Single submitter
- PTPRJ p.Pro744Arg Uncertain significance Single submitter
- PTPRJ p.Pro846Ala Uncertain significance Single submitter
- PTPRJ p.Ser1085Leu Uncertain significance Single submitter
- PTPRJ p.Ser389Cys Uncertain significance Single submitter
- PTPRJ p.Ser393Leu Uncertain significance Single submitter
- PTPRJ p.Ser395Phe Uncertain significance Single submitter
- PTPRJ p.Ser503Thr Uncertain significance Single submitter
- PTPRJ p.Ser767Asn Uncertain significance Single submitter
- PTPRJ p.Ser769Phe Uncertain significance Single submitter
- PTPRJ p.Ser827Cys Uncertain significance Single submitter
- PTPRJ p.Thr1169Ile Uncertain significance Single submitter
- PTPRJ p.Thr1315Ala Uncertain significance Single submitter
- PTPRJ p.Thr133Asn Uncertain significance Single submitter
- PTPRJ p.Thr463Ile Uncertain significance Single submitter
- PTPRJ p.Thr50Pro Uncertain significance Single submitter
- PTPRJ p.Thr778Arg Uncertain significance Single submitter
- PTPRJ p.Thr778Met Uncertain significance Single submitter
- PTPRJ p.Thr81Arg Uncertain significance Single submitter
- PTPRJ p.Thr81Lys Uncertain significance Single submitter
- PTPRJ p.Thr855Asn Uncertain significance Single submitter
- PTPRJ p.Thr989Ser Uncertain significance Single submitter
- PTPRJ p.Trp1128Arg Uncertain significance Single submitter
- PTPRJ p.Tyr1152Cys Uncertain significance Single submitter
- PTPRJ p.Tyr1225Cys Uncertain significance Single submitter
- PTPRJ p.Tyr550Cys Uncertain significance Single submitter
- PTPRJ p.Tyr693Cys Uncertain significance Single submitter
- PTPRJ p.Tyr776Cys Uncertain significance Single submitter
- PTPRJ p.Val1237Ala Uncertain significance Single submitter
- PTPRJ p.Val345Ile Uncertain significance Single submitter
- PTPRJ p.Val388Leu Uncertain significance Single submitter
- PTPRJ p.Val455Asp Uncertain significance Single submitter
- PTPRJ p.Val613Ile Uncertain significance Single submitter
- PTPRJ p.Val684Ile Uncertain significance Single submitter
- PTPRJ p.Val964Ile Uncertain significance Single submitter
- PTPRJ p.Val964Leu Uncertain significance Single submitter
- PTPRJ p.Val990Leu Uncertain significance Single submitter
-
PTPRJ p.Ala670Thr
Uncertain significance
No assertion criteria
PTPRJ-related disorder
-
PTPRJ p.Lys150Thr
Uncertain significance
No assertion criteria
PTPRJ-related disorder
- PTPRJ p.Met1168Val Uncertain significance No assertion criteria
- PTPRJ p.Ser541Cys Uncertain significance No assertion criteria
Predictors split 31
The independent predictors disagree with each other — read with care.
- PTPRJ p.Ala1042Thr Uncertain significance Single submitter
- PTPRJ p.Arg425Cys Uncertain significance Single submitter
- PTPRJ p.Asn536Asp Uncertain significance Single submitter
- PTPRJ p.Asn747Lys Uncertain significance Single submitter
- PTPRJ p.Cys516Trp Uncertain significance Single submitter
- PTPRJ p.Cys809Ser Uncertain significance Single submitter
- PTPRJ p.Gln1033His Uncertain significance Single submitter
- PTPRJ p.Gln1258His Uncertain significance Single submitter
- PTPRJ p.Gly1207Ser Uncertain significance Single submitter
- PTPRJ p.Ile632Thr Uncertain significance Single submitter
- PTPRJ p.Met1126Thr Uncertain significance Single submitter
- PTPRJ p.Phe123Leu Uncertain significance Single submitter
- PTPRJ p.Pro719Arg Uncertain significance Single submitter
- PTPRJ p.Ser1233Leu Uncertain significance Single submitter
- PTPRJ p.Ser260Leu Uncertain significance Single submitter
- PTPRJ p.Ser378Ile Uncertain significance Single submitter
- PTPRJ p.Ser494Phe Uncertain significance Single submitter
- PTPRJ p.Ser531Phe Uncertain significance Single submitter
- PTPRJ p.Ser581Cys Uncertain significance Single submitter
- PTPRJ p.Thr1315Ile Uncertain significance Single submitter
- PTPRJ p.Thr328Met Uncertain significance Single submitter
- PTPRJ p.Thr605Ile Uncertain significance Single submitter
- PTPRJ p.Thr795Ile Uncertain significance Single submitter
- PTPRJ p.Thr855Ile Uncertain significance Single submitter
- PTPRJ p.Thr870Met Uncertain significance Single submitter
- PTPRJ p.Trp759Gly Uncertain significance Single submitter
- PTPRJ p.Tyr273Cys Uncertain significance Single submitter
- PTPRJ p.Val548Met Uncertain significance Single submitter
- PTPRJ p.Arg1125Cys Uncertain significance No assertion criteria
-
PTPRJ p.Ile1259Thr
Uncertain significance
No assertion criteria
PTPRJ-related disorder
-
PTPRJ p.Val1265Met
Uncertain significance
No assertion criteria
PTPRJ-related disorder
All PTPRJ variants
Pathogenic 3
- c.1875del No assertion criteria thrombocytopenia 10
- c.97-2A>G No assertion criteria thrombocytopenia 10
- p.Arg214Cys No assertion criteria colon carcinoma ⚠
Conflicting classifications of pathogenicity 2
- p.Gln276Pro Single submitter colorectal cancer ⚠
- p.Gly471Ser Single submitter ⚠
Benign 8
- c.3042-6A>G Multiple submitters
- p.Ala293Thr Multiple submitters
- p.Asn192Ser Multiple submitters
- p.His451Arg Multiple submitters
- p.Ile1235Thr Multiple submitters
- p.Ser635Arg Multiple submitters
- p.Pro422= Single submitter
- p.Thr499Ala No assertion criteria PTPRJ-related disorder
Likely benign 41
- p.Arg418His Multiple submitters
- c.2444-7G>C Single submitter
- p.Ala746Thr Single submitter
- p.Ala762Val Single submitter
- p.Arg806Gln Single submitter
- p.Asp650Glu Single submitter
- p.Asp94= Single submitter
- p.Gly322Ser Single submitter
- p.Gly338Asp Single submitter
- p.His451Tyr Single submitter
- p.Leu34= Single submitter
- p.Met722Val Single submitter
- p.Pro272Leu Single submitter
- p.Ser242Gly Single submitter
- p.Ser347Pro Single submitter
- p.Ser415Asn Single submitter
- p.Ser531Pro Single submitter
- p.Thr781Met Single submitter
- p.Trp170Arg Single submitter
- p.Tyr149= Single submitter
- c.2443+8A>G No assertion criteria PTPRJ-related disorder
- c.3230-10A>C No assertion criteria PTPRJ-related disorder
- c.3719+4C>T No assertion criteria PTPRJ-related disorder
- p.Ala859= No assertion criteria PTPRJ-related disorder
- p.Arg425His No assertion criteria PTPRJ-related disorder
- p.Arg959His No assertion criteria
- p.Asp681= No assertion criteria PTPRJ-related disorder
- p.Cys35= No assertion criteria PTPRJ-related disorder
- p.Cys727= No assertion criteria PTPRJ-related disorder
- p.Gln1228Arg No assertion criteria PTPRJ-related disorder
- p.Gly615= No assertion criteria PTPRJ-related disorder
- p.Ile1336= No assertion criteria PTPRJ-related disorder
- p.Ile470Met No assertion criteria PTPRJ-related disorder
- p.Ser393= No assertion criteria PTPRJ-related disorder
- p.Ser567= No assertion criteria PTPRJ-related disorder
- p.Thr1147= No assertion criteria PTPRJ-related disorder
- p.Thr1264= No assertion criteria PTPRJ-related disorder
- p.Thr194= No assertion criteria PTPRJ-related disorder
- p.Thr826= No assertion criteria PTPRJ-related disorder
- p.Val1222Ile No assertion criteria PTPRJ-related disorder
- p.Val835= No assertion criteria PTPRJ-related disorder
Uncertain significance 161
- p.Gln356Arg Multiple submitters ⚠
- p.Gly773Asp Multiple submitters ⚠
- p.Ala1003Glu Single submitter ⚠
- p.Ala1003Thr Single submitter ⚠
- p.Ala1042Thr Single submitter ⚠
- p.Ala1324Glu Single submitter ⚠
- p.Ala542Val Single submitter ⚠
- p.Arg1081Cys Single submitter ⚠
- p.Arg1254Cys Single submitter ⚠
- p.Arg1254His Single submitter ⚠
- p.Arg177Cys Single submitter ⚠
- p.Arg340Pro Single submitter ⚠
- p.Arg418Cys Single submitter ⚠
- p.Arg425Cys Single submitter ⚠
- p.Arg461Leu Single submitter ⚠
- p.Arg712Gln Single submitter ⚠
- p.Arg806Trp Single submitter ⚠
- p.Arg894Cys Single submitter ⚠
- p.Arg894His Single submitter ⚠
- p.Arg959Cys Single submitter ⚠
- p.Asn1038Asp Single submitter ⚠
- p.Asn1072Thr Single submitter ⚠
- p.Asn1098Ser Single submitter ⚠
- p.Asn1292His Single submitter ⚠
- p.Asn172Asp Single submitter ⚠
- p.Asn278Asp Single submitter ⚠
- p.Asn342Ser Single submitter ⚠
- p.Asn525Asp Single submitter ⚠
- p.Asn536Asp Single submitter ⚠
- p.Asn536Ser Single submitter ⚠
- p.Asn666Asp Single submitter PTPRJ-related disorder ⚠
- p.Asn747Lys Single submitter ⚠
- p.Asn760Ile Single submitter ⚠
- p.Asn831His Single submitter ⚠
- p.Asp1286His Single submitter ⚠
- p.Asp252Asn Single submitter ⚠
- p.Asp564Asn Single submitter ⚠
- p.Asp94Asn Single submitter ⚠
- p.Asp969Asn Single submitter ⚠
- p.Cys516Trp Single submitter ⚠
- p.Cys809Ser Single submitter ⚠
- p.Gln1033His Single submitter ⚠
- p.Gln1258His Single submitter ⚠
- p.Gln267Leu Single submitter ⚠
- p.Gln358Arg Single submitter ⚠
- p.Gln488His Single submitter ⚠
- p.Glu336Gln Single submitter ⚠
- p.Glu361Lys Single submitter ⚠
- p.Glu442Gln Single submitter ⚠
- p.Glu55Gly Single submitter ⚠
- p.Glu728Lys Single submitter ⚠
- p.Glu891Gly Single submitter ⚠
- p.Gly1102Asp Single submitter ⚠
- p.Gly1207Ser Single submitter ⚠
- p.Gly1244Arg Single submitter ⚠
- p.Gly191Ser Single submitter ⚠
- p.Gly219Arg Single submitter ⚠
- p.Gly423Arg Single submitter ⚠
- p.Gly711Val Single submitter ⚠
- p.Gly745Ala Single submitter
- p.Gly821Ala Single submitter ⚠
- p.Gly857Arg Single submitter ⚠
- p.Gly860Asp Single submitter ⚠
- p.Gly860Cys Single submitter ⚠
- p.Gly950Arg Single submitter ⚠
- p.His1089Arg Single submitter ⚠
- p.His1199Asn Single submitter ⚠
- p.His155Tyr Single submitter PTPRJ-related disorder ⚠
- p.His861Gln Single submitter ⚠
- p.Ile1164Val Single submitter ⚠
- p.Ile1172Thr Single submitter ⚠
- p.Ile1259Met Single submitter ⚠
- p.Ile1336Asn Single submitter ⚠
- p.Ile136Val Single submitter ⚠
- p.Ile243Thr Single submitter ⚠
- p.Ile360Thr Single submitter ⚠
- p.Ile506Thr Single submitter ⚠
- p.Ile575Val Single submitter ⚠
- p.Ile58Leu Single submitter PTPRJ-related disorder ⚠
- p.Ile606Val Single submitter ⚠
- p.Ile632Thr Single submitter ⚠
- p.Leu239Phe Single submitter ⚠
- p.Lys1014Gln Single submitter ⚠
- p.Lys1032Arg Single submitter ⚠
- p.Lys222Arg Single submitter ⚠
- p.Lys222Asn Single submitter ⚠
- p.Lys281Asn Single submitter ⚠
- p.Lys848Ile Single submitter ⚠
- p.Lys868Ile Single submitter ⚠
- p.Met1126Thr Single submitter ⚠
- p.Phe1041Ile Single submitter ⚠
- p.Phe123Leu Single submitter ⚠
- p.Phe68Cys Single submitter ⚠
- p.Pro1154His Single submitter ⚠
- p.Pro132Ala Single submitter ⚠
- p.Pro169Ser Single submitter ⚠
- p.Pro207Leu Single submitter ⚠
- p.Pro44Thr Single submitter ⚠
- p.Pro453Leu Single submitter ⚠
- p.Pro456Ala Single submitter ⚠
- p.Pro719Arg Single submitter ⚠
- p.Pro744Arg Single submitter ⚠
- p.Pro846Ala Single submitter ⚠
- p.Ser1085Leu Single submitter ⚠
- p.Ser1233Leu Single submitter ⚠
- p.Ser260Leu Single submitter ⚠
- p.Ser378Ile Single submitter ⚠
- p.Ser389Cys Single submitter ⚠
- p.Ser393Leu Single submitter ⚠
- p.Ser395Phe Single submitter ⚠
- p.Ser494Phe Single submitter ⚠
- p.Ser503Thr Single submitter ⚠
- p.Ser531Phe Single submitter ⚠
- p.Ser581Cys Single submitter ⚠
- p.Ser767Asn Single submitter ⚠
- p.Ser769Phe Single submitter ⚠
- p.Ser827Cys Single submitter ⚠
- p.Thr1169Ile Single submitter ⚠
- p.Thr1315Ala Single submitter ⚠
- p.Thr1315Ile Single submitter ⚠
- p.Thr133Asn Single submitter ⚠
- p.Thr328Met Single submitter ⚠
- p.Thr463Ile Single submitter ⚠
- p.Thr50Pro Single submitter ⚠
- p.Thr605Ile Single submitter ⚠
- p.Thr778Arg Single submitter ⚠
- p.Thr778Met Single submitter ⚠
- p.Thr795Ile Single submitter ⚠
- p.Thr81Arg Single submitter ⚠
- p.Thr81Lys Single submitter ⚠
- p.Thr855Asn Single submitter ⚠
- p.Thr855Ile Single submitter ⚠
- p.Thr870Met Single submitter ⚠
- p.Thr989Ser Single submitter ⚠
- p.Trp1128Arg Single submitter ⚠
- p.Trp759Gly Single submitter ⚠
- p.Tyr1029Cys Single submitter
- p.Tyr1152Cys Single submitter ⚠
- p.Tyr1161Asp Single submitter
- p.Tyr1225Cys Single submitter ⚠
- p.Tyr273Cys Single submitter ⚠
- p.Tyr550Cys Single submitter ⚠
- p.Tyr693Cys Single submitter ⚠
- p.Tyr776Cys Single submitter ⚠
- p.Val1237Ala Single submitter ⚠
- p.Val345Ile Single submitter ⚠
- p.Val388Leu Single submitter ⚠
- p.Val455Asp Single submitter ⚠
- p.Val548Met Single submitter ⚠
- p.Val613Ile Single submitter ⚠
- p.Val684Ile Single submitter ⚠
- p.Val964Ile Single submitter ⚠
- p.Val964Leu Single submitter ⚠
- p.Val990Leu Single submitter ⚠
- p.Ala670Thr No assertion criteria PTPRJ-related disorder ⚠
- p.Arg1125Cys No assertion criteria ⚠
- p.Ile1259Thr No assertion criteria PTPRJ-related disorder ⚠
- p.Lys150Thr No assertion criteria PTPRJ-related disorder ⚠
- p.Met1168Val No assertion criteria ⚠
- p.Ser541Cys No assertion criteria ⚠
- p.Val1265Met No assertion criteria PTPRJ-related disorder ⚠