PTPRO — 512 ClinVar variants
All ClinVar germline PTPRO variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 227 flagged for review →
5 Pathogenic · 5 Likely pathogenic · 8 Conflicting · 69 Benign · 22 Benign/Likely benign · 140 Likely benign · 263 Uncertain significance
Full PTPRO gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 227
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 agree, ClinVar conflicts 2
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
Predictors lean, ClinVar uncertain 176
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 176
-
PTPRO p.Ala1086Val
Uncertain significance
Multiple submitters
nephrotic syndrome, type 6
-
PTPRO p.Ala591Thr
Uncertain significance
Multiple submitters
nephrotic syndrome, type 6
-
PTPRO p.Arg607Gln
Uncertain significance
Multiple submitters
nephrotic syndrome, type 6
- PTPRO p.Asn569Asp Uncertain significance Multiple submitters
-
PTPRO p.Asp162Val
Uncertain significance
Multiple submitters
nephrotic syndrome, type 6
- PTPRO p.Asp301His Uncertain significance Multiple submitters
-
PTPRO p.Asp799Gly
Uncertain significance
Multiple submitters
nephrotic syndrome, type 6
-
PTPRO p.Glu214Lys
Uncertain significance
Multiple submitters
nephrotic syndrome, type 6
-
PTPRO p.Glu70Lys
Uncertain significance
Multiple submitters
nephrotic syndrome, type 6
-
PTPRO p.Glu73Lys
Uncertain significance
Multiple submitters
nephrotic syndrome, type 6
-
PTPRO p.Glu854Gln
Uncertain significance
Multiple submitters
nephrotic syndrome, type 6
- PTPRO p.Gly760Asp Uncertain significance Multiple submitters
-
PTPRO p.His362Arg
Uncertain significance
Multiple submitters
nephrotic syndrome, type 6
-
PTPRO p.Ile1058Val
Uncertain significance
Multiple submitters
nephrotic syndrome, type 6
-
PTPRO p.Ile517Met
Uncertain significance
Multiple submitters
nephrotic syndrome, type 6
-
PTPRO p.Ile629Val
Uncertain significance
Multiple submitters
nephrotic syndrome, type 6
-
PTPRO p.Leu541Trp
Uncertain significance
Multiple submitters
nephrotic syndrome, type 6
-
PTPRO p.Met537Ile
Uncertain significance
Multiple submitters
nephrotic syndrome, type 6
-
PTPRO p.Pro108Gln
Uncertain significance
Multiple submitters
nephrotic syndrome, type 6
- PTPRO p.Ser251Thr Uncertain significance Multiple submitters
- PTPRO p.Ser315Gly Uncertain significance Multiple submitters
-
PTPRO p.Ser333Leu
Uncertain significance
Multiple submitters
nephrotic syndrome, type 6
-
PTPRO p.Ser419Gly
Uncertain significance
Multiple submitters
nephrotic syndrome, type 6
-
PTPRO p.Thr840Ile
Uncertain significance
Multiple submitters
nephrotic syndrome, type 6
-
PTPRO p.Val1162Ile
Uncertain significance
Multiple submitters
nephrotic syndrome, type 6
-
PTPRO p.Val230Ala
Uncertain significance
Multiple submitters
nephrotic syndrome, type 6
-
PTPRO p.Val316Ile
Uncertain significance
Multiple submitters
nephrotic syndrome, type 6
-
PTPRO p.Val546Met
Uncertain significance
Multiple submitters
nephrotic syndrome, type 6
-
PTPRO p.Val562Met
Uncertain significance
Multiple submitters
nephrotic syndrome, type 6
-
PTPRO p.Val563Ile
Uncertain significance
Multiple submitters
nephrotic syndrome, type 6
-
PTPRO p.Val809Ile
Uncertain significance
Multiple submitters
nephrotic syndrome, type 6
-
PTPRO p.Val825Met
Uncertain significance
Multiple submitters
nephrotic syndrome, type 6
-
PTPRO p.Ala1059Val
Uncertain significance
Single submitter
nephrotic syndrome, type 6
- PTPRO p.Ala11Thr Uncertain significance Single submitter
-
PTPRO p.Ala527Ser
Uncertain significance
Single submitter
nephrotic syndrome, type 6
-
PTPRO p.Ala545Ser
Uncertain significance
Single submitter
nephrotic syndrome, type 6
- PTPRO p.Ala731Val Uncertain significance Single submitter
- PTPRO p.Ala749Val Uncertain significance Single submitter
-
PTPRO p.Ala788Val
Uncertain significance
Single submitter
nephrotic syndrome, type 6
- PTPRO p.Ala852Ser Uncertain significance Single submitter
- PTPRO p.Ala925Val Uncertain significance Single submitter
- PTPRO p.Arg1044Met Uncertain significance Single submitter
-
PTPRO p.Arg1082Gln
Uncertain significance
Single submitter
nephrotic syndrome, type 6
-
PTPRO p.Arg1082Trp
Uncertain significance
Single submitter
nephrotic syndrome, type 6
-
PTPRO p.Arg1142Trp
Uncertain significance
Single submitter
nephrotic syndrome, type 6
- PTPRO p.Arg164Gln Uncertain significance Single submitter
- PTPRO p.Arg367Gln Uncertain significance Single submitter
- PTPRO p.Asn1002Lys Uncertain significance Single submitter
-
PTPRO p.Asn238Lys
Uncertain significance
Single submitter
nephrotic syndrome, type 6
- PTPRO p.Asn287Tyr Uncertain significance Single submitter
- PTPRO p.Asn916His Uncertain significance Single submitter
- PTPRO p.Asp1091His Uncertain significance Single submitter
- PTPRO p.Asp290Asn Uncertain significance Single submitter
-
PTPRO p.Asp301Tyr
Uncertain significance
Single submitter
nephrotic syndrome, type 6
-
PTPRO p.Asp36Asn
Uncertain significance
Single submitter
nephrotic syndrome, type 6
- PTPRO p.Asp37Asn Uncertain significance Single submitter
- PTPRO p.Asp655Glu Uncertain significance Single submitter
- PTPRO p.Asp933His Uncertain significance Single submitter
-
PTPRO p.Cys1039Gly
Uncertain significance
Single submitter
nephrotic syndrome, type 6
- PTPRO p.Cys1204Arg Uncertain significance Single submitter
- PTPRO p.Cys620Phe Uncertain significance Single submitter
-
PTPRO p.Gln1123Arg
Uncertain significance
Single submitter
nephrotic syndrome, type 6
- PTPRO p.Gln1124Arg Uncertain significance Single submitter
-
PTPRO p.Gln1154Glu
Uncertain significance
Single submitter
nephrotic syndrome, type 6
-
PTPRO p.Gln1193Lys
Uncertain significance
Single submitter
nephrotic syndrome, type 6
- PTPRO p.Gln758Glu Uncertain significance Single submitter
- PTPRO p.Glu1072Gly Uncertain significance Single submitter
-
PTPRO p.Glu1072Lys
Uncertain significance
Single submitter
nephrotic syndrome, type 6
-
PTPRO p.Glu1088Asp
Uncertain significance
Single submitter
nephrotic syndrome, type 6
- PTPRO p.Glu1088Lys Uncertain significance Single submitter
- PTPRO p.Glu1211Lys Uncertain significance Single submitter
- PTPRO p.Glu322Lys Uncertain significance Single submitter
- PTPRO p.Glu408Gln Uncertain significance Single submitter
- PTPRO p.Glu430Ala Uncertain significance Single submitter
-
PTPRO p.Glu434Lys
Uncertain significance
Single submitter
nephrotic syndrome, type 6
-
PTPRO p.Glu854Asp
Uncertain significance
Single submitter
nephrotic syndrome, type 6
- PTPRO p.Gly184Arg Uncertain significance Single submitter
- PTPRO p.Gly245Asp Uncertain significance Single submitter
- PTPRO p.Gly2Glu Uncertain significance Single submitter
- PTPRO p.Gly426Val Uncertain significance Single submitter
- PTPRO p.Gly654Ala Uncertain significance Single submitter
- PTPRO p.Gly908Ser Uncertain significance Single submitter
-
PTPRO p.His1080Gln
Uncertain significance
Single submitter
nephrotic syndrome, type 6
-
PTPRO p.His1189Arg
Uncertain significance
Single submitter
nephrotic syndrome, type 6
-
PTPRO p.His362Tyr
Uncertain significance
Single submitter
nephrotic syndrome, type 6
-
PTPRO p.His364Arg
Uncertain significance
Single submitter
nephrotic syndrome, type 6
- PTPRO p.His442Gln Uncertain significance Single submitter
-
PTPRO p.Ile1058Met
Uncertain significance
Single submitter
nephrotic syndrome, type 6
-
PTPRO p.Ile1188Val
Uncertain significance
Single submitter
nephrotic syndrome, type 6
-
PTPRO p.Ile141Met
Uncertain significance
Single submitter
nephrotic syndrome, type 6
-
PTPRO p.Ile495Thr
Uncertain significance
Single submitter
nephrotic syndrome, type 6
- PTPRO p.Ile626Met Uncertain significance Single submitter
-
PTPRO p.Ile83Thr
Uncertain significance
Single submitter
nephrotic syndrome, type 6
-
PTPRO p.Ile842Val
Uncertain significance
Single submitter
nephrotic syndrome, type 6
- PTPRO p.Ile8Leu Uncertain significance Single submitter
- PTPRO p.Ile8Met Uncertain significance Single submitter
- PTPRO p.Ile8Thr Uncertain significance Single submitter
- PTPRO p.Ile971Met Uncertain significance Single submitter
- PTPRO p.Leu317Pro Uncertain significance Single submitter
- PTPRO p.Leu555Ser Uncertain significance Single submitter
- PTPRO p.Leu767Val Uncertain significance Single submitter
- PTPRO p.Lys1200Gln Uncertain significance Single submitter
- PTPRO p.Lys1215Gln Uncertain significance Single submitter
-
PTPRO p.Lys237Arg
Uncertain significance
Single submitter
nephrotic syndrome, type 6
- PTPRO p.Lys25Glu Uncertain significance Single submitter
- PTPRO p.Lys928Arg Uncertain significance Single submitter
- PTPRO p.Met1035Arg Uncertain significance Single submitter
- PTPRO p.Met1035Thr Uncertain significance Single submitter
- PTPRO p.Met1132Val Uncertain significance Single submitter
- PTPRO p.Met1178Thr Uncertain significance Single submitter
- PTPRO p.Met319Thr Uncertain significance Single submitter
-
PTPRO p.Met376Lys
Uncertain significance
Single submitter
nephrotic syndrome, type 6
-
PTPRO p.Met451Val
Uncertain significance
Single submitter
nephrotic syndrome, type 6
-
PTPRO p.Met984Val
Uncertain significance
Single submitter
nephrotic syndrome, type 6
- PTPRO p.Phe286Leu Uncertain significance Single submitter
- PTPRO p.Phe30Ser Uncertain significance Single submitter
-
PTPRO p.Pro131Leu
Uncertain significance
Single submitter
nephrotic syndrome, type 6
- PTPRO p.Pro16Arg Uncertain significance Single submitter
-
PTPRO p.Pro248Leu
Uncertain significance
Single submitter
nephrotic syndrome, type 6
- PTPRO p.Pro318Leu Uncertain significance Single submitter
- PTPRO p.Pro436Arg Uncertain significance Single submitter
-
PTPRO p.Pro523Thr
Uncertain significance
Single submitter
nephrotic syndrome, type 6
-
PTPRO p.Pro553Arg
Uncertain significance
Single submitter
nephrotic syndrome, type 6
- PTPRO p.Pro804Ser Uncertain significance Single submitter
- PTPRO p.Ser1128Arg Uncertain significance Single submitter
- PTPRO p.Ser188Gly Uncertain significance Single submitter
-
PTPRO p.Ser280Phe
Uncertain significance
Single submitter
nephrotic syndrome, type 6
- PTPRO p.Ser289Gly Uncertain significance Single submitter
-
PTPRO p.Ser337Phe
Uncertain significance
Single submitter
nephrotic syndrome, type 6
- PTPRO p.Ser406Pro Uncertain significance Single submitter
- PTPRO p.Ser423Ile Uncertain significance Single submitter
-
PTPRO p.Ser619Gly
Uncertain significance
Single submitter
nephrotic syndrome, type 6
- PTPRO p.Ser624Cys Uncertain significance Single submitter
-
PTPRO p.Ser645Asn
Uncertain significance
Single submitter
nephrotic syndrome, type 6
- PTPRO p.Ser645Gly Uncertain significance Single submitter
- PTPRO p.Ser762Gly Uncertain significance Single submitter
-
PTPRO p.Ser76Asn
Uncertain significance
Single submitter
nephrotic syndrome, type 6
- PTPRO p.Ser800Arg Uncertain significance Single submitter
-
PTPRO p.Ser939Pro
Uncertain significance
Single submitter
nephrotic syndrome, type 6
-
PTPRO p.Thr122Ile
Uncertain significance
Single submitter
nephrotic syndrome, type 6
- PTPRO p.Thr258Lys Uncertain significance Single submitter
-
PTPRO p.Thr268Arg
Uncertain significance
Single submitter
nephrotic syndrome, type 6
- PTPRO p.Thr544Lys Uncertain significance Single submitter
-
PTPRO p.Thr574Ser
Uncertain significance
Single submitter
focal segmental glomerulosclerosis
-
PTPRO p.Thr578Ile
Uncertain significance
Single submitter
nephrotic syndrome, type 6
- PTPRO p.Thr61Ala Uncertain significance Single submitter
- PTPRO p.Thr625Ile Uncertain significance Single submitter
- PTPRO p.Thr638Ala Uncertain significance Single submitter
-
PTPRO p.Thr638Ile
Uncertain significance
Single submitter
nephrotic syndrome, type 6
- PTPRO p.Thr652Ser Uncertain significance Single submitter
Predictors split 49
The independent predictors disagree with each other — read with care.
-
PTPRO p.Glu564Lys
Uncertain significance
Multiple submitters
nephrotic syndrome, type 6
-
PTPRO p.Met1067Ile
Uncertain significance
Multiple submitters
nephrotic syndrome, type 6
-
PTPRO p.Met166Thr
Uncertain significance
Multiple submitters
nephrotic syndrome, type 6
-
PTPRO p.Ala1111Pro
Uncertain significance
Single submitter
nephrotic syndrome, type 6
-
PTPRO p.Ala1148Val
Uncertain significance
Single submitter
nephrotic syndrome, type 6
-
PTPRO p.Ala672Thr
Uncertain significance
Single submitter
nephrotic syndrome, type 6
- PTPRO p.Arg1018Thr Uncertain significance Single submitter
- PTPRO p.Arg1043Lys Uncertain significance Single submitter
- PTPRO p.Arg1157Trp Uncertain significance Single submitter
- PTPRO p.Arg164Trp Uncertain significance Single submitter
- PTPRO p.Asn875Asp Uncertain significance Single submitter
-
PTPRO p.Asp48Glu
Uncertain significance
Single submitter
nephrotic syndrome, type 6
-
PTPRO p.Asp869Asn
Uncertain significance
Single submitter
nephrotic syndrome, type 6
- PTPRO p.Asp951Gly Uncertain significance Single submitter
- PTPRO p.Gln1073Pro Uncertain significance Single submitter
-
PTPRO p.Glu987Lys
Uncertain significance
Single submitter
nephrotic syndrome, type 6
-
PTPRO p.Gly1166Ala
Conflicting
Single submitter
nephrotic syndrome, type 6
- PTPRO p.Gly856Arg Uncertain significance Single submitter
-
PTPRO p.Gly870Glu
Uncertain significance
Single submitter
nephrotic syndrome, type 6
- PTPRO p.His1155Asp Uncertain significance Single submitter
-
PTPRO p.Leu1149Val
Uncertain significance
Single submitter
nephrotic syndrome, type 6
- PTPRO p.Leu167Pro Uncertain significance Single submitter
-
PTPRO p.Leu886Gln
Uncertain significance
Single submitter
nephrotic syndrome, type 6
- PTPRO p.Met1171Ile Uncertain significance Single submitter
-
PTPRO p.Phe150Val
Uncertain significance
Single submitter
nephrotic syndrome, type 6
- PTPRO p.Phe643Leu Uncertain significance Single submitter
- PTPRO p.Phe860Leu Uncertain significance Single submitter
- PTPRO p.Pro222Ala Uncertain significance Single submitter
- PTPRO p.Pro888Arg Uncertain significance Single submitter
-
PTPRO p.Pro917Leu
Uncertain significance
Single submitter
nephrotic syndrome, type 6
-
PTPRO p.Ser1177Phe
Likely benign
Single submitter
nephrotic syndrome, type 6
- PTPRO p.Ser469Leu Uncertain significance Single submitter
- PTPRO p.Ser54Pro Uncertain significance Single submitter
-
PTPRO p.Ser650Gly
Uncertain significance
Single submitter
nephrotic syndrome, type 6
-
PTPRO p.Thr1098Ala
Uncertain significance
Single submitter
nephrotic syndrome, type 6
- PTPRO p.Thr544Met Uncertain significance Single submitter
- PTPRO p.Thr737Ala Uncertain significance Single submitter
-
PTPRO p.Trp1196Cys
Uncertain significance
Single submitter
nephrotic syndrome, type 6
- PTPRO p.Trp181Arg Uncertain significance Single submitter
- PTPRO p.Trp892Arg Uncertain significance Single submitter
- PTPRO p.Tyr421Cys Uncertain significance Single submitter
- PTPRO p.Tyr900His Uncertain significance Single submitter
- PTPRO p.Tyr92Asp Uncertain significance Single submitter
-
PTPRO p.Val1092Met
Uncertain significance
Single submitter
nephrotic syndrome, type 6
- PTPRO p.Val1105Leu Uncertain significance Single submitter
-
PTPRO p.Val439Met
Uncertain significance
Single submitter
nephrotic syndrome, type 6
-
PTPRO p.Val608Leu
Uncertain significance
Single submitter
nephrotic syndrome, type 6
- PTPRO p.Val809Asp Uncertain significance Single submitter
- PTPRO p.Val820Glu Uncertain significance Single submitter
All PTPRO variants
Pathogenic 5
- p.Asp935fs Single submitter
- p.Ser414Ter Single submitter
- p.Ser650fs Single submitter
- c.2627+1G>T No assertion criteria nephrotic syndrome, type 6
- c.2829+1G>A No assertion criteria nephrotic syndrome, type 6
Likely pathogenic 5
- c.2305-1G>C Single submitter
- c.2712-1G>A Single submitter nephrotic syndrome, type 6
- c.2712-2del Single submitter
- p.Lys676fs Single submitter nephrotic syndrome, type 6
- p.Val587fs Single submitter nephrotic syndrome, type 6
Conflicting classifications of pathogenicity 8
- c.2628-13T>A Single submitter nephrotic syndrome, type 6
- c.2747+18T>G Single submitter nephrotic syndrome, type 6
- p.Gly1166Ala Single submitter nephrotic syndrome, type 6 ⚠
- p.Leu20= Single submitter nephrotic syndrome, type 6
- p.Phe526= Single submitter nephrotic syndrome, type 6
- p.Thr658Met Single submitter ⚠
- p.Val439= Single submitter nephrotic syndrome, type 6
- p.Val593Met Single submitter ⚠
Benign 69
- c.1106-10T>A Multiple submitters
- c.1268-64A>G Multiple submitters
- c.1780-32C>T Multiple submitters
- c.2043+93A>T Multiple submitters
- c.2305-21C>T Multiple submitters
- c.2438-60G>T Multiple submitters
- c.2559-119C>G Multiple submitters
- c.2628-70A>G Multiple submitters
- c.2747+199A>G Multiple submitters
- c.2829+123A>G Multiple submitters
- c.2830-43C>T Multiple submitters
- c.2921-18T>C Multiple submitters
- c.2997+200A>T Multiple submitters
- c.2997+67T>A Multiple submitters
- c.3255+65G>A Multiple submitters
- c.3255+83C>T Multiple submitters
- c.349+155C>T Multiple submitters
- c.509-46T>C Multiple submitters
- c.661+123T>C Multiple submitters
- c.*16+29C>T Multiple submitters
- p.Gly1012= Multiple submitters
- p.Gly542= Multiple submitters
- c.1105+160T>G Single submitter
- c.1268-231G>A Single submitter
- c.1268-263A>G Single submitter
- c.1268-281A>T Single submitter
- c.1464+269T>A Single submitter
- c.1464+284G>A Single submitter
- c.1465-280G>A Single submitter
- c.1586-112T>G Single submitter
- c.1586-144_1586-143insGGAAGGG Single submitter
- c.1586-144A>G Single submitter
- c.1586-145dup Single submitter
- c.1586-152_1586-145dup Single submitter
- c.1586-19C>A Single submitter
- c.1586-200G>A Single submitter
- c.1586-244AAAAG[4] Single submitter
- c.1586-283AG[2] Single submitter
- c.1779+290A>C Single submitter
- c.1779+298T>C Single submitter
- c.2043+239A>G Single submitter
- c.2304+130C>G Single submitter
- c.2305-176G>A Single submitter
- c.2438-335G>A Single submitter
- c.2628-13T>C Single submitter
- c.2711+17del Single submitter
- c.2711+17dup Single submitter
- c.2712-140_2712-139insTTAA Single submitter
- c.2829+243C>T Single submitter
- c.2830-248T>C Single submitter
- c.2830-254T>C Single submitter
- c.2830-63_2830-62insG Single submitter
- c.2997+18dup Single submitter
- c.3132+147A>C Single submitter
- c.3133-134_3133-133insGTATT Single submitter
- c.3133-327G>T Single submitter
- c.3255+226T>C Single submitter
- c.3255+320C>A Single submitter
- c.3255+321A>C Single submitter
- c.3410+309C>A Single submitter
- c.3411-63del Single submitter
- c.3411-64_3411-63del Single submitter
- c.349+211C>A Single submitter
- c.349+219T>G Single submitter
- c.350-280T>C Single submitter
- c.509-156A>G Single submitter
- c.661+284T>C Single submitter
- c.662-165T>C Single submitter
- p.Leu742= Single submitter
Benign/Likely benign 22
- c.2165-5C>A Multiple submitters
- c.2829+8G>A Multiple submitters
- c.2997+18del Multiple submitters nephrotic syndrome, type 6
- c.3546+10T>C Multiple submitters
- c.508+19G>A Multiple submitters nephrotic syndrome, type 6
- c.661+9C>T Multiple submitters nephrotic syndrome, type 6
- p.Ala11Ser Multiple submitters
- p.Arg1157Gln Multiple submitters
- p.Asn370Lys Multiple submitters nephrotic syndrome, type 6
- p.Asp1074= Multiple submitters nephrotic syndrome, type 6
- p.Asp1074Glu Multiple submitters
- p.Asp1087= Multiple submitters
- p.Asp36= Multiple submitters
- p.His213= Multiple submitters
- p.Ile228Val Multiple submitters
- p.Leu947= Multiple submitters nephrotic syndrome, type 6
- p.Phe752= Multiple submitters
- p.Ser592= Multiple submitters nephrotic syndrome, type 6
- p.Ser802= Multiple submitters nephrotic syndrome, type 6
- p.Thr1054= Multiple submitters
- p.Val443Ile Multiple submitters
- p.Val524= Multiple submitters
Likely benign 140
- c.1105+29A>T Multiple submitters
- c.1465-9G>T Multiple submitters
- c.1585+16C>A Multiple submitters
- c.1585+90G>A Multiple submitters
- c.2165-266T>G Multiple submitters
- c.2437+19_2437+20insAAA Multiple submitters
- c.2437+20_2437+21insCTGGTCTTTGGAAGTTCTTTCCATATTTTTTTCC Multiple submitters
- c.2437+20T>C Multiple submitters
- c.2437+24A>T Multiple submitters
- c.2920+9G>A Multiple submitters
- c.3411-155C>T Multiple submitters
- c.3547-132A>G Multiple submitters
- c.76-16C>G Multiple submitters
- p.Ala1099= Multiple submitters
- p.Asn238Tyr Multiple submitters nephrotic syndrome, type 6
- p.Thr204= Multiple submitters nephrotic syndrome, type 6
- c.1105+20G>C Single submitter
- c.1106-12T>C Single submitter
- c.1106-14T>A Single submitter
- c.1106-18T>G Single submitter
- c.1106-7G>A Single submitter
- c.1267+10A>G Single submitter
- c.1464+278G>A Single submitter
- c.1464+9G>A Single submitter
- c.1465-4A>C Single submitter
- c.1586-124G>A Single submitter
- c.1586-241del Single submitter
- c.1892-173_1892-172insCTTGTTGTA Single submitter
- c.1892-177_1892-176insTAT Single submitter
- c.1892-58G>A Single submitter
- c.2043+151G>A Single submitter
- c.2165-16C>A Single submitter
- c.2165-20A>T Single submitter
- c.2304+9C>T Single submitter
- c.2437+19_2437+20insAAATCTGGTCTTTGGAAGTTCTTTCCATATTTTTTTC Single submitter
- c.2437+43AT[7] Single submitter
- c.2438-199C>G Single submitter
- c.2558+20T>C Single submitter
- c.2558+328A>T Single submitter
- c.2628-17T>C Single submitter
- c.2628-8G>A Single submitter
- c.2712-157T>C Single submitter
- c.2712-20T>G Single submitter
- c.2712-92T>A Single submitter
- c.2747+10T>C Single submitter
- c.2748-105C>T Single submitter
- c.2748-17del Single submitter
- c.2748-273T>C Single submitter
- c.2920+8C>T Single submitter
- c.2997+15A>G Single submitter
- c.2997+17A>T Single submitter
- c.2997+223G>A Single submitter
- c.2997+227A>G Single submitter
- c.2998-204A>C Single submitter
- c.2998-8T>A Single submitter
- c.3132+133G>A Single submitter
- c.3133-12T>C Single submitter
- c.3133-18G>T Single submitter
- c.3255+12G>A Single submitter
- c.3255+9C>T Single submitter
- c.3256-168dup Single submitter
- c.3410+248T>C Single submitter
- c.3411-76G>A Single submitter
- c.350-14_350-9del Single submitter
- c.3546+130A>G Single submitter
- c.3546+18_3546+19del Single submitter
- c.661+7C>A Single submitter
- c.75+12C>T Single submitter
- c.75+9G>C Single submitter
- c.76-109A>G Single submitter
- p.Ala1138= Single submitter
- p.Ala1148= Single submitter
- p.Ala772Ser Single submitter
- p.Ala857= Single submitter
- p.Arg110= Single submitter
- p.Arg367= Single submitter
- p.Asn1019= Single submitter
- p.Asn1096= Single submitter
- p.Asn236= Single submitter
- p.Asn790= Single submitter
- p.Asp894= Single submitter
- p.Cys1204= Single submitter
- p.Cys621= Single submitter
- p.Gln1028= Single submitter
- p.Gln758= Single submitter
- p.Gln919= Single submitter
- p.Glu262Asp Single submitter
- p.Glu497= Single submitter
- p.Gly282Ser Single submitter
- p.His438= Single submitter
- p.Ile112= Single submitter
- p.Ile274= Single submitter
- p.Ile40= Single submitter
- p.Ile807= Single submitter
- p.Leu375= Single submitter
- p.Leu44= Single submitter
- p.Leu548= Single submitter
- p.Lys764= Single submitter
- p.Lys911= Single submitter
- p.Met376Ile Single submitter
- p.Phe252= Single submitter
- p.Phe730= Single submitter
- p.Pro635= Single submitter
- p.Ser1173= Single submitter
- p.Ser1177Phe Single submitter nephrotic syndrome, type 6 ⚠
- p.Ser123= Single submitter
- p.Ser281= Single submitter
- p.Ser478= Single submitter
- p.Ser624= Single submitter
- p.Ser661= Single submitter
- p.Ser792= Single submitter
- p.Ter1217= Single submitter
- p.Thr433= Single submitter
- p.Thr487= Single submitter
- p.Thr625= Single submitter
- p.Thr779= Single submitter
- p.Tyr1210= Single submitter
- p.Tyr187= Single submitter
- p.Tyr321= Single submitter
- p.Tyr505= Single submitter
- p.Tyr653= Single submitter
- p.Tyr992= Single submitter
- p.Val230= Single submitter
- p.Val377= Single submitter
- p.Val443= Single submitter
- p.Val49Ile Single submitter
- p.Val777= Single submitter
- p.Val809= Single submitter
- c.1891+6G>T No assertion criteria PTPRO-related disorder
- c.1891+8A>T No assertion criteria PTPRO-related disorder
- c.2438-10A>C No assertion criteria PTPRO-related disorder
- c.2748-10T>C No assertion criteria PTPRO-related disorder
- c.3255+7C>T No assertion criteria PTPRO-related disorder
- c.3546+9A>G No assertion criteria PTPRO-related disorder
- p.Ala221= No assertion criteria PTPRO-related disorder
- p.Ala386= No assertion criteria PTPRO-related disorder
- p.Lys85= No assertion criteria PTPRO-related disorder
- p.Pro436= No assertion criteria PTPRO-related disorder
- p.Ser315= No assertion criteria PTPRO-related disorder
- p.Thr612= No assertion criteria PTPRO-related disorder
Uncertain significance 263
- p.Ala1086Val Multiple submitters nephrotic syndrome, type 6 ⚠
- p.Ala591Thr Multiple submitters nephrotic syndrome, type 6 ⚠
- p.Arg480Trp Multiple submitters nephrotic syndrome, type 6
- p.Arg607Gln Multiple submitters nephrotic syndrome, type 6 ⚠
- p.Asn569Asp Multiple submitters ⚠
- p.Asp162Val Multiple submitters nephrotic syndrome, type 6 ⚠
- p.Asp301His Multiple submitters ⚠
- p.Asp799Gly Multiple submitters nephrotic syndrome, type 6 ⚠
- p.Glu214Lys Multiple submitters nephrotic syndrome, type 6 ⚠
- p.Glu564Lys Multiple submitters nephrotic syndrome, type 6 ⚠
- p.Glu70Lys Multiple submitters nephrotic syndrome, type 6 ⚠
- p.Glu73Lys Multiple submitters nephrotic syndrome, type 6 ⚠
- p.Glu854Gln Multiple submitters nephrotic syndrome, type 6 ⚠
- p.Gly760Asp Multiple submitters ⚠
- p.His362Arg Multiple submitters nephrotic syndrome, type 6 ⚠
- p.Ile1058Val Multiple submitters nephrotic syndrome, type 6 ⚠
- p.Ile517Met Multiple submitters nephrotic syndrome, type 6 ⚠
- p.Ile629Val Multiple submitters nephrotic syndrome, type 6 ⚠
- p.Leu541Trp Multiple submitters nephrotic syndrome, type 6 ⚠
- p.Met1067Ile Multiple submitters nephrotic syndrome, type 6 ⚠
- p.Met166Thr Multiple submitters nephrotic syndrome, type 6 ⚠
- p.Met537Ile Multiple submitters nephrotic syndrome, type 6 ⚠
- p.Pro108Gln Multiple submitters nephrotic syndrome, type 6 ⚠
- p.Ser251Thr Multiple submitters ⚠
- p.Ser315Gly Multiple submitters ⚠
- p.Ser333Leu Multiple submitters nephrotic syndrome, type 6 ⚠
- p.Ser419Gly Multiple submitters nephrotic syndrome, type 6 ⚠
- p.Thr840Ile Multiple submitters nephrotic syndrome, type 6 ⚠
- p.Val1162Ile Multiple submitters nephrotic syndrome, type 6 ⚠
- p.Val230Ala Multiple submitters nephrotic syndrome, type 6 ⚠
- p.Val316Ile Multiple submitters nephrotic syndrome, type 6 ⚠
- p.Val546Met Multiple submitters nephrotic syndrome, type 6 ⚠
- p.Val562Met Multiple submitters nephrotic syndrome, type 6 ⚠
- p.Val563Ile Multiple submitters nephrotic syndrome, type 6 ⚠
- p.Val809Ile Multiple submitters nephrotic syndrome, type 6 ⚠
- p.Val825Met Multiple submitters nephrotic syndrome, type 6 ⚠
- c.1106-10T>G Single submitter nephrotic syndrome, type 6
- c.1267+3A>T Single submitter nephrotic syndrome, type 6
- c.1268-5T>C Single submitter
- c.1780-9C>G Single submitter nephrotic syndrome, type 6
- c.2438-13C>T Single submitter nephrotic syndrome, type 6
- c.2748-12T>C Single submitter
- c.2829+11del Single submitter nephrotic syndrome, type 6
- c.2920+13A>G Single submitter nephrotic syndrome, type 6
- c.76-67403G>A Single submitter PTPRO-related disorder
- c.-8G>C Single submitter nephrotic syndrome, type 6
- p.Ala1059Val Single submitter nephrotic syndrome, type 6 ⚠
- p.Ala1111Pro Single submitter nephrotic syndrome, type 6 ⚠
- p.Ala1148Val Single submitter nephrotic syndrome, type 6 ⚠
- p.Ala11Thr Single submitter ⚠
- p.Ala527Ser Single submitter nephrotic syndrome, type 6 ⚠
- p.Ala545Ser Single submitter nephrotic syndrome, type 6 ⚠
- p.Ala672= Single submitter nephrotic syndrome, type 6
- p.Ala672Thr Single submitter nephrotic syndrome, type 6 ⚠
- p.Ala731Val Single submitter ⚠
- p.Ala749Val Single submitter ⚠
- p.Ala788Val Single submitter nephrotic syndrome, type 6 ⚠
- p.Ala852Ser Single submitter ⚠
- p.Ala925Val Single submitter ⚠
- p.Arg1018Thr Single submitter ⚠
- p.Arg1043Lys Single submitter ⚠
- p.Arg1044Met Single submitter ⚠
- p.Arg1082Gln Single submitter nephrotic syndrome, type 6 ⚠
- p.Arg1082Trp Single submitter nephrotic syndrome, type 6 ⚠
- p.Arg1142= Single submitter nephrotic syndrome, type 6
- p.Arg1142Trp Single submitter nephrotic syndrome, type 6 ⚠
- p.Arg1157Trp Single submitter ⚠
- p.Arg164Gln Single submitter ⚠
- p.Arg164Trp Single submitter ⚠
- p.Arg367Gln Single submitter ⚠
- p.Asn1002Lys Single submitter ⚠
- p.Asn238Lys Single submitter nephrotic syndrome, type 6 ⚠
- p.Asn287= Single submitter nephrotic syndrome, type 6
- p.Asn287Tyr Single submitter ⚠
- p.Asn39del Single submitter
- p.Asn490= Single submitter nephrotic syndrome, type 6
- p.Asn875Asp Single submitter ⚠
- p.Asn916His Single submitter ⚠
- p.Asp1075= Single submitter nephrotic syndrome, type 6
- p.Asp1091His Single submitter ⚠
- p.Asp290Asn Single submitter ⚠
- p.Asp301Tyr Single submitter nephrotic syndrome, type 6 ⚠
- p.Asp36Asn Single submitter nephrotic syndrome, type 6 ⚠
- p.Asp37Asn Single submitter ⚠
- p.Asp48Glu Single submitter nephrotic syndrome, type 6 ⚠
- p.Asp655Glu Single submitter ⚠
- p.Asp659His Single submitter nephrotic syndrome, type 6
- p.Asp659Tyr Single submitter
- p.Asp869Asn Single submitter nephrotic syndrome, type 6 ⚠
- p.Asp921His Single submitter
- p.Asp933His Single submitter ⚠
- p.Asp951Gly Single submitter ⚠
- p.Cys1039Gly Single submitter nephrotic syndrome, type 6 ⚠
- p.Cys1204Arg Single submitter ⚠
- p.Cys620Phe Single submitter ⚠
- p.Gln1073Pro Single submitter ⚠
- p.Gln1123Arg Single submitter nephrotic syndrome, type 6 ⚠
- p.Gln1124Arg Single submitter ⚠
- p.Gln1154Glu Single submitter nephrotic syndrome, type 6 ⚠
- p.Gln1193His Single submitter
- p.Gln1193Lys Single submitter nephrotic syndrome, type 6 ⚠
- p.Gln193Glu Single submitter nephrotic syndrome, type 6
- p.Gln504fs Single submitter
- p.Gln758Glu Single submitter ⚠
- p.Glu1072Gly Single submitter ⚠
- p.Glu1072Lys Single submitter nephrotic syndrome, type 6 ⚠
- p.Glu1088Asp Single submitter nephrotic syndrome, type 6 ⚠
- p.Glu1088Lys Single submitter ⚠
- p.Glu1211Lys Single submitter ⚠
- p.Glu322Lys Single submitter ⚠
- p.Glu408Gln Single submitter ⚠
- p.Glu430Ala Single submitter ⚠
- p.Glu434Lys Single submitter nephrotic syndrome, type 6 ⚠
- p.Glu854Asp Single submitter nephrotic syndrome, type 6 ⚠
- p.Glu987Lys Single submitter nephrotic syndrome, type 6 ⚠
- p.Gly184Arg Single submitter ⚠
- p.Gly245Asp Single submitter ⚠
- p.Gly2Glu Single submitter ⚠
- p.Gly426Val Single submitter ⚠
- p.Gly556= Single submitter
- p.Gly654Ala Single submitter ⚠
- p.Gly856Arg Single submitter ⚠
- p.Gly870Glu Single submitter nephrotic syndrome, type 6 ⚠
- p.Gly908Ser Single submitter ⚠
- p.His1080Gln Single submitter nephrotic syndrome, type 6 ⚠
- p.His1155Asp Single submitter ⚠
- p.His1189Arg Single submitter nephrotic syndrome, type 6 ⚠
- p.His362Tyr Single submitter nephrotic syndrome, type 6 ⚠
- p.His364Arg Single submitter nephrotic syndrome, type 6 ⚠
- p.His442Gln Single submitter ⚠
- p.Ile1058Met Single submitter nephrotic syndrome, type 6 ⚠
- p.Ile1188Val Single submitter nephrotic syndrome, type 6 ⚠
- p.Ile141Met Single submitter nephrotic syndrome, type 6 ⚠
- p.Ile495Thr Single submitter nephrotic syndrome, type 6 ⚠
- p.Ile496Thr Single submitter nephrotic syndrome, type 6
- p.Ile528= Single submitter nephrotic syndrome, type 6
- p.Ile626Met Single submitter ⚠
- p.Ile83Thr Single submitter nephrotic syndrome, type 6 ⚠
- p.Ile842Val Single submitter nephrotic syndrome, type 6 ⚠
- p.Ile8Leu Single submitter ⚠
- p.Ile8Met Single submitter ⚠
- p.Ile8Thr Single submitter ⚠
- p.Ile971Met Single submitter ⚠
- p.Leu1149Val Single submitter nephrotic syndrome, type 6 ⚠
- p.Leu167Pro Single submitter ⚠
- p.Leu317Pro Single submitter ⚠
- p.Leu555Ser Single submitter ⚠
- p.Leu598Val Single submitter nephrotic syndrome, type 6
- p.Leu767Val Single submitter ⚠
- p.Leu886Gln Single submitter nephrotic syndrome, type 6 ⚠
- p.Lys107= Single submitter nephrotic syndrome, type 6
- p.Lys1200Gln Single submitter ⚠
- p.Lys1215Gln Single submitter ⚠
- p.Lys237Arg Single submitter nephrotic syndrome, type 6 ⚠
- p.Lys25Glu Single submitter ⚠
- p.Lys928Arg Single submitter ⚠
- p.Met1035Arg Single submitter ⚠
- p.Met1035Thr Single submitter ⚠
- p.Met1132Val Single submitter ⚠
- p.Met1171Ile Single submitter ⚠
- p.Met1178Thr Single submitter ⚠
- p.Met319Thr Single submitter ⚠
- p.Met376Lys Single submitter nephrotic syndrome, type 6 ⚠
- p.Met451Val Single submitter nephrotic syndrome, type 6 ⚠
- p.Met984Val Single submitter nephrotic syndrome, type 6 ⚠
- p.Phe150Val Single submitter nephrotic syndrome, type 6 ⚠
- p.Phe286Leu Single submitter ⚠
- p.Phe30Ser Single submitter ⚠
- p.Phe643Leu Single submitter ⚠
- p.Phe68= Single submitter nephrotic syndrome, type 6
- p.Phe860Leu Single submitter ⚠
- p.Pro131Leu Single submitter nephrotic syndrome, type 6 ⚠
- p.Pro16Arg Single submitter ⚠
- p.Pro222Ala Single submitter ⚠
- p.Pro248Leu Single submitter nephrotic syndrome, type 6 ⚠
- p.Pro318Leu Single submitter ⚠
- p.Pro436Arg Single submitter ⚠
- p.Pro523Thr Single submitter nephrotic syndrome, type 6 ⚠
- p.Pro553Arg Single submitter nephrotic syndrome, type 6 ⚠
- p.Pro804Ser Single submitter ⚠
- p.Pro818Leu Single submitter
- p.Pro888Arg Single submitter ⚠
- p.Pro917= Single submitter
- p.Pro917Leu Single submitter nephrotic syndrome, type 6 ⚠
- p.Ser1128Arg Single submitter ⚠
- p.Ser1214= Single submitter nephrotic syndrome, type 6
- p.Ser188Gly Single submitter ⚠
- p.Ser276= Single submitter nephrotic syndrome, type 6
- p.Ser280Phe Single submitter nephrotic syndrome, type 6 ⚠
- p.Ser289Gly Single submitter ⚠
- p.Ser337Phe Single submitter nephrotic syndrome, type 6 ⚠
- p.Ser406Pro Single submitter ⚠
- p.Ser423Ile Single submitter ⚠
- p.Ser469= Single submitter nephrotic syndrome, type 6
- p.Ser469Leu Single submitter ⚠
- p.Ser54Pro Single submitter ⚠
- p.Ser619Gly Single submitter nephrotic syndrome, type 6 ⚠
- p.Ser624Cys Single submitter ⚠
- p.Ser645Asn Single submitter nephrotic syndrome, type 6 ⚠
- p.Ser645Gly Single submitter ⚠
- p.Ser650Gly Single submitter nephrotic syndrome, type 6 ⚠
- p.Ser762Gly Single submitter ⚠
- p.Ser76Asn Single submitter nephrotic syndrome, type 6 ⚠
- p.Ser800Arg Single submitter ⚠
- p.Ser939Pro Single submitter nephrotic syndrome, type 6 ⚠
- p.Thr106= Single submitter nephrotic syndrome, type 6
- p.Thr1098Ala Single submitter nephrotic syndrome, type 6 ⚠
- p.Thr122Ile Single submitter nephrotic syndrome, type 6 ⚠
- p.Thr258Lys Single submitter ⚠
- p.Thr268Arg Single submitter nephrotic syndrome, type 6 ⚠
- p.Thr294= Single submitter nephrotic syndrome, type 6
- p.Thr544Lys Single submitter ⚠
- p.Thr544Met Single submitter ⚠
- p.Thr574Ser Single submitter focal segmental glomerulosclerosis ⚠
- p.Thr578Ile Single submitter nephrotic syndrome, type 6 ⚠
- p.Thr61Ala Single submitter ⚠
- p.Thr625Ile Single submitter ⚠
- p.Thr638Ala Single submitter ⚠
- p.Thr638Ile Single submitter nephrotic syndrome, type 6 ⚠
- p.Thr652Ser Single submitter ⚠
- p.Thr6Met Single submitter ⚠
- p.Thr737Ala Single submitter ⚠
- p.Thr765= Single submitter nephrotic syndrome, type 6
- p.Thr77Ile Single submitter nephrotic syndrome, type 6 ⚠
- p.Thr805Met Single submitter ⚠
- p.Trp1076Gly Single submitter nephrotic syndrome, type 6 ⚠
- p.Trp1196Cys Single submitter nephrotic syndrome, type 6 ⚠
- p.Trp181Arg Single submitter ⚠
- p.Trp892Arg Single submitter ⚠
- p.Tyr223His Single submitter ⚠
- p.Tyr421Cys Single submitter ⚠
- p.Tyr554Asp Single submitter nephrotic syndrome, type 6 ⚠
- p.Tyr581Cys Single submitter
- p.Tyr88Cys Single submitter nephrotic syndrome, type 6
- p.Tyr900His Single submitter ⚠
- p.Tyr92Asp Single submitter ⚠
- p.Tyr974His Single submitter nephrotic syndrome, type 6 ⚠
- p.Val1092Met Single submitter nephrotic syndrome, type 6 ⚠
- p.Val1105Leu Single submitter ⚠
- p.Val1140Met Single submitter nephrotic syndrome, type 6 ⚠
- p.Val22Ala Single submitter nephrotic syndrome, type 6 ⚠
- p.Val233Ile Single submitter ⚠
- p.Val34Ile Single submitter ⚠
- p.Val377Met Single submitter nephrotic syndrome, type 6 ⚠
- p.Val41Ala Single submitter ⚠
- p.Val41Ile Single submitter ⚠
- p.Val439Leu Single submitter ⚠
- p.Val439Met Single submitter nephrotic syndrome, type 6 ⚠
- p.Val547Ile Single submitter ⚠
- p.Val557Ala Single submitter nephrotic syndrome, type 6 ⚠
- p.Val608Leu Single submitter nephrotic syndrome, type 6 ⚠
- p.Val611Glu Single submitter ⚠
- p.Val640Met Single submitter ⚠
- p.Val671Ala Single submitter ⚠
- p.Val748Glu Single submitter nephrotic syndrome, type 6 ⚠
- p.Val748Ile Single submitter ⚠
- p.Val771Ala Single submitter nephrotic syndrome, type 6 ⚠
- p.Val809Asp Single submitter ⚠
- p.Val820Glu Single submitter ⚠
- p.Val820Met Single submitter nephrotic syndrome, type 6 ⚠
- p.Ala731Thr No assertion criteria PTPRO-related disorder ⚠
- p.Ile365Phe No assertion criteria PTPRO-related disorder ⚠
- p.Pro318fs No assertion criteria