PTPRE — 86 ClinVar variants
All ClinVar germline PTPRE variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 78 flagged for review →
5 Likely benign · 81 Uncertain significance
Full PTPRE gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 78
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 63
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PTPRE p.Ala129Thr Uncertain significance Single submitter
- PTPRE p.Ala289Val Uncertain significance Single submitter
- PTPRE p.Ala328Ser Uncertain significance Single submitter
- PTPRE p.Ala578Thr Uncertain significance Single submitter
- PTPRE p.Ala602Thr Uncertain significance Single submitter
- PTPRE p.Ala65Val Uncertain significance Single submitter
- PTPRE p.Ala66Thr Uncertain significance Single submitter
- PTPRE p.Arg21Gly Uncertain significance Single submitter
- PTPRE p.Arg260Gln Uncertain significance Single submitter
- PTPRE p.Arg437Gln Uncertain significance Single submitter
- PTPRE p.Arg579Cys Uncertain significance Single submitter
- PTPRE p.Arg579His Uncertain significance Single submitter
- PTPRE p.Arg585Gln Uncertain significance Single submitter
- PTPRE p.Arg588Cys Uncertain significance Single submitter
- PTPRE p.Asn140Ile Uncertain significance Single submitter
- PTPRE p.Asn140Ser Uncertain significance Single submitter
- PTPRE p.Asn372Asp Uncertain significance Single submitter
- PTPRE p.Asn435Ser Uncertain significance Single submitter
- PTPRE p.Asn88Lys Uncertain significance Single submitter
- PTPRE p.Asp250Asn Uncertain significance Single submitter
- PTPRE p.Asp265Asn Uncertain significance Single submitter
- PTPRE p.Asp285Asn Uncertain significance Single submitter
- PTPRE p.Asp422Asn Uncertain significance Single submitter
- PTPRE p.Cys5Tyr Uncertain significance Single submitter
- PTPRE p.Gln529His Uncertain significance Single submitter
- PTPRE p.Glu31Lys Uncertain significance Single submitter
- PTPRE p.Glu401Gln Uncertain significance Single submitter
- PTPRE p.Glu543Lys Uncertain significance Single submitter
- PTPRE p.Glu554Asp Uncertain significance Single submitter
- PTPRE p.Gly416Ser Uncertain significance Single submitter
- PTPRE p.Gly599Arg Uncertain significance Single submitter
- PTPRE p.Gly633Arg Uncertain significance Single submitter
- PTPRE p.His420Gln Uncertain significance Single submitter
- PTPRE p.His548Arg Uncertain significance Single submitter
- PTPRE p.His548Tyr Uncertain significance Single submitter
- PTPRE p.His624Gln Uncertain significance Single submitter
- PTPRE p.Ile126Met Uncertain significance Single submitter
- PTPRE p.Ile147Leu Uncertain significance Single submitter
- PTPRE p.Ile331Val Uncertain significance Single submitter
- PTPRE p.Leu120Pro Uncertain significance Single submitter
- PTPRE p.Leu20Val Uncertain significance Single submitter
- PTPRE p.Leu58Val Uncertain significance Single submitter
- PTPRE p.Met100Val Uncertain significance Single submitter
- PTPRE p.Met472Val Uncertain significance Single submitter
- PTPRE p.Phe139Tyr Uncertain significance Single submitter
- PTPRE p.Pro106Thr Uncertain significance Single submitter
- PTPRE p.Pro307Leu Uncertain significance Single submitter
- PTPRE p.Ser144Cys Uncertain significance Single submitter
- PTPRE p.Ser82Arg Uncertain significance Single submitter
- PTPRE p.Thr25Pro Uncertain significance Single submitter
- PTPRE p.Thr342Met Uncertain significance Single submitter
- PTPRE p.Thr34Arg Uncertain significance Single submitter
- PTPRE p.Thr34Met Uncertain significance Single submitter
- PTPRE p.Thr35Ile Uncertain significance Single submitter
- PTPRE p.Thr380Met Uncertain significance Single submitter
- PTPRE p.Thr445Met Uncertain significance Single submitter
- PTPRE p.Tyr696Asp Uncertain significance Single submitter
- PTPRE p.Val263Met Uncertain significance Single submitter
- PTPRE p.Val267Met Uncertain significance Single submitter
- PTPRE p.Val326Met Uncertain significance Single submitter
- PTPRE p.Val332Met Uncertain significance Single submitter
- PTPRE p.Val468Leu Uncertain significance Single submitter
- PTPRE p.Val61Met Uncertain significance Single submitter
Predictors split 15
The independent predictors disagree with each other — read with care.
- PTPRE p.Arg125His Uncertain significance Single submitter
- PTPRE p.Arg444Lys Uncertain significance Single submitter
- PTPRE p.Arg649Gln Uncertain significance Single submitter
- PTPRE p.Asn623Lys Uncertain significance Single submitter
- PTPRE p.Asp271Asn Uncertain significance Single submitter
- PTPRE p.Glu582Lys Uncertain significance Single submitter
- PTPRE p.Gly544Cys Uncertain significance Single submitter
- PTPRE p.His671Tyr Uncertain significance Single submitter
- PTPRE p.Leu56Pro Uncertain significance Single submitter
- PTPRE p.Leu667His Uncertain significance Single submitter
- PTPRE p.Lys616Gln Uncertain significance Single submitter
- PTPRE p.Phe366Cys Uncertain significance Single submitter
- PTPRE p.Pro330Ala Uncertain significance Single submitter
- PTPRE p.Thr552Met Uncertain significance Single submitter
- PTPRE p.Val685Ala Uncertain significance Single submitter
All PTPRE variants
Likely benign 5
- p.Ala17Thr Single submitter
- p.Ile598Val Single submitter
- p.Pro284= Single submitter
- p.Thr322Met Single submitter
- p.Thr418Ala Single submitter
Uncertain significance 81
- p.Ala129Thr Single submitter ⚠
- p.Ala289Val Single submitter ⚠
- p.Ala328Ser Single submitter ⚠
- p.Ala578Thr Single submitter ⚠
- p.Ala602Thr Single submitter ⚠
- p.Ala65Val Single submitter ⚠
- p.Ala66Thr Single submitter ⚠
- p.Arg125His Single submitter ⚠
- p.Arg21Gly Single submitter ⚠
- p.Arg260Gln Single submitter ⚠
- p.Arg437Gln Single submitter ⚠
- p.Arg444Lys Single submitter ⚠
- p.Arg579Cys Single submitter ⚠
- p.Arg579His Single submitter ⚠
- p.Arg585Gln Single submitter ⚠
- p.Arg588Cys Single submitter ⚠
- p.Arg649Gln Single submitter ⚠
- p.Asn140Ile Single submitter ⚠
- p.Asn140Ser Single submitter ⚠
- p.Asn372Asp Single submitter ⚠
- p.Asn435Ser Single submitter ⚠
- p.Asn623Lys Single submitter ⚠
- p.Asn88Lys Single submitter ⚠
- p.Asp250Asn Single submitter ⚠
- p.Asp265Asn Single submitter ⚠
- p.Asp271Asn Single submitter ⚠
- p.Asp285Asn Single submitter ⚠
- p.Asp422Asn Single submitter ⚠
- p.Cys5Tyr Single submitter ⚠
- p.Gln529His Single submitter ⚠
- p.Glu31Lys Single submitter ⚠
- p.Glu401Gln Single submitter ⚠
- p.Glu543Lys Single submitter ⚠
- p.Glu554Asp Single submitter ⚠
- p.Glu582Lys Single submitter ⚠
- p.Gly416Ser Single submitter ⚠
- p.Gly425Arg Single submitter
- p.Gly544Cys Single submitter ⚠
- p.Gly599Arg Single submitter ⚠
- p.Gly633Arg Single submitter ⚠
- p.His420Gln Single submitter ⚠
- p.His548Arg Single submitter ⚠
- p.His548Tyr Single submitter ⚠
- p.His624Gln Single submitter ⚠
- p.His671Tyr Single submitter ⚠
- p.Ile126Met Single submitter ⚠
- p.Ile147Leu Single submitter ⚠
- p.Ile331Val Single submitter ⚠
- p.Ile611Met Single submitter
- p.Leu120Pro Single submitter ⚠
- p.Leu20Val Single submitter ⚠
- p.Leu56Pro Single submitter ⚠
- p.Leu58Val Single submitter ⚠
- p.Leu667His Single submitter ⚠
- p.Lys616Gln Single submitter ⚠
- p.Met100Val Single submitter ⚠
- p.Met472Val Single submitter ⚠
- p.Phe139Tyr Single submitter ⚠
- p.Phe308Val Single submitter
- p.Phe366Cys Single submitter ⚠
- p.Pro106Thr Single submitter ⚠
- p.Pro307Leu Single submitter ⚠
- p.Pro330Ala Single submitter ⚠
- p.Ser144Cys Single submitter ⚠
- p.Ser82Arg Single submitter ⚠
- p.Thr25Pro Single submitter ⚠
- p.Thr342Met Single submitter ⚠
- p.Thr34Arg Single submitter ⚠
- p.Thr34Met Single submitter ⚠
- p.Thr35Ile Single submitter ⚠
- p.Thr380Met Single submitter ⚠
- p.Thr445Met Single submitter ⚠
- p.Thr552Met Single submitter ⚠
- p.Tyr696Asp Single submitter ⚠
- p.Val263Met Single submitter ⚠
- p.Val267Met Single submitter ⚠
- p.Val326Met Single submitter ⚠
- p.Val332Met Single submitter ⚠
- p.Val468Leu Single submitter ⚠
- p.Val61Met Single submitter ⚠
- p.Val685Ala Single submitter ⚠