PTPRM — 195 ClinVar variants
All ClinVar germline PTPRM variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 152 flagged for review →
1 Conflicting · 16 Benign · 1 Benign/Likely benign · 18 Likely benign · 159 Uncertain significance
Full PTPRM gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 152
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 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
Predictors lean, ClinVar uncertain 114
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PTPRM p.Ala1128Gly Uncertain significance Single submitter
- PTPRM p.Ala1163Glu Uncertain significance Single submitter
- PTPRM p.Ala1163Val Uncertain significance Single submitter
- PTPRM p.Ala1221Thr Uncertain significance Single submitter
- PTPRM p.Ala1347Thr Uncertain significance Single submitter
- PTPRM p.Ala1414Thr Uncertain significance Single submitter
- PTPRM p.Ala255Gly Uncertain significance Single submitter
- PTPRM p.Ala291Thr Uncertain significance Single submitter
- PTPRM p.Ala744Ser Uncertain significance Single submitter
- PTPRM p.Ala805Pro Uncertain significance Single submitter
- PTPRM p.Ala908Val Uncertain significance Single submitter
- PTPRM p.Ala926Thr Uncertain significance Single submitter
- PTPRM p.Arg1091Gln Uncertain significance Single submitter
- PTPRM p.Arg1146Gln Uncertain significance Single submitter
- PTPRM p.Arg1225Trp Uncertain significance Single submitter
- PTPRM p.Arg1231Gln Uncertain significance Single submitter
- PTPRM p.Arg1342Cys Uncertain significance Single submitter
- PTPRM p.Arg138Cys Uncertain significance Single submitter
- PTPRM p.Arg1408His Uncertain significance Single submitter
- PTPRM p.Arg259Cys Uncertain significance Single submitter
- PTPRM p.Arg263His Uncertain significance Single submitter
- PTPRM p.Arg430Gln Uncertain significance Single submitter
- PTPRM p.Arg467Gln Uncertain significance Single submitter
- PTPRM p.Arg538Thr Uncertain significance Single submitter
- PTPRM p.Arg629His Uncertain significance Single submitter
- PTPRM p.Arg699Ser Uncertain significance Single submitter
- PTPRM p.Arg773Gln Uncertain significance Single submitter
- PTPRM p.Arg894Trp Uncertain significance Single submitter
- PTPRM p.Arg977Gln Uncertain significance Single submitter
- PTPRM p.Asn108Ser Uncertain significance Single submitter
- PTPRM p.Asn1188Ser Uncertain significance Single submitter
- PTPRM p.Asn141Ser Uncertain significance Single submitter
- PTPRM p.Asn454Ser Uncertain significance Single submitter
- PTPRM p.Asn602Asp Uncertain significance Single submitter
- PTPRM p.Asn801His Uncertain significance Single submitter
- PTPRM p.Asn979Ser Uncertain significance Single submitter
- PTPRM p.Asp1076Ala Uncertain significance Single submitter
- PTPRM p.Asp224Gly Uncertain significance Single submitter
- PTPRM p.Asp864Asn Uncertain significance Single submitter
- PTPRM p.Asp881Asn Uncertain significance Single submitter
- PTPRM p.Cys321Arg Uncertain significance Single submitter
- PTPRM p.Cys716Ser Uncertain significance Single submitter
- PTPRM p.Cys7Arg Uncertain significance Single submitter
- PTPRM p.Cys7Phe Uncertain significance Single submitter
- PTPRM p.Gln422Lys Uncertain significance Single submitter
- PTPRM p.Glu1002Lys Uncertain significance Single submitter
- PTPRM p.Glu1390Lys Uncertain significance Single submitter
- PTPRM p.Glu144Gln Uncertain significance Single submitter
- PTPRM p.Glu195Gln Uncertain significance Single submitter
- PTPRM p.Glu734Lys Uncertain significance Single submitter
- PTPRM p.Gly126Glu Uncertain significance Single submitter
- PTPRM p.Gly1321Asp Uncertain significance Single submitter
- PTPRM p.Gly1321Ser Uncertain significance Single submitter
- PTPRM p.Gly1465Ser Uncertain significance Single submitter
- PTPRM p.Gly1465Val Uncertain significance Single submitter
- PTPRM p.Gly425Arg Uncertain significance Single submitter
- PTPRM p.Gly537Val Uncertain significance Single submitter
- PTPRM p.His1082Tyr Uncertain significance Single submitter
- PTPRM p.His441Tyr Uncertain significance Single submitter
- PTPRM p.His547Arg Uncertain significance Single submitter
- PTPRM p.Ile1008Val Uncertain significance Single submitter
- PTPRM p.Ile1160Thr Uncertain significance Single submitter
- PTPRM p.Ile1323Val Uncertain significance Single submitter
- PTPRM p.Ile172Val Uncertain significance Single submitter
- PTPRM p.Ile242Thr Uncertain significance Single submitter
- PTPRM p.Ile647Val Uncertain significance Single submitter
- PTPRM p.Ile958Met Uncertain significance Single submitter
- PTPRM p.Leu14Phe Uncertain significance Single submitter
- PTPRM p.Leu4Phe Uncertain significance Single submitter
- PTPRM p.Leu70Met Uncertain significance Single submitter
- PTPRM p.Lys106Arg Uncertain significance Single submitter
- PTPRM p.Lys176Gln Uncertain significance Single submitter
- PTPRM p.Lys56Glu Uncertain significance Single submitter
- PTPRM p.Lys875Glu Uncertain significance Single submitter
- PTPRM p.Met1366Thr Uncertain significance Single submitter
- PTPRM p.Met261Ile Uncertain significance Single submitter
- PTPRM p.Met607Val Uncertain significance Single submitter
- PTPRM p.Met69Val Uncertain significance Single submitter
- PTPRM p.Pro1365Leu Uncertain significance Single submitter
- PTPRM p.Pro136Gln Uncertain significance Single submitter
- PTPRM p.Pro879Leu Uncertain significance Single submitter
- PTPRM p.Ser337Asn Uncertain significance Single submitter
- PTPRM p.Ser393Thr Uncertain significance Single submitter
- PTPRM p.Ser823Leu Uncertain significance Single submitter
- PTPRM p.Ser833Asn Uncertain significance Single submitter
- PTPRM p.Ser930Leu Uncertain significance Single submitter
- PTPRM p.Thr185Ser Uncertain significance Single submitter
- PTPRM p.Thr203Ala Uncertain significance Single submitter
- PTPRM p.Thr264Ala Uncertain significance Single submitter
- PTPRM p.Thr264Asn Uncertain significance Single submitter
- PTPRM p.Thr336Arg Uncertain significance Single submitter
- PTPRM p.Thr437Ala Uncertain significance Single submitter
- PTPRM p.Thr636Met Uncertain significance Single submitter
- PTPRM p.Thr962Ala Uncertain significance Single submitter
- PTPRM p.Tyr1032His Uncertain significance Single submitter
- PTPRM p.Tyr1185Cys Uncertain significance Single submitter
- PTPRM p.Tyr33Cys Uncertain significance Single submitter
- PTPRM p.Tyr695Asn Uncertain significance Single submitter
- PTPRM p.Tyr971Phe Uncertain significance Single submitter
- PTPRM p.Val103Ala Uncertain significance Single submitter
- PTPRM p.Val1090Met Uncertain significance Single submitter
- PTPRM p.Val1134Ile Uncertain significance Single submitter
- PTPRM p.Val1140Ile Uncertain significance Single submitter
- PTPRM p.Val1151Leu Uncertain significance Single submitter
- PTPRM p.Val1325Ala Uncertain significance Single submitter
- PTPRM p.Val1428Met Uncertain significance Single submitter
- PTPRM p.Val213Met Uncertain significance Single submitter
- PTPRM p.Val247Ile Uncertain significance Single submitter
- PTPRM p.Val512Ile Uncertain significance Single submitter
- PTPRM p.Val620Phe Uncertain significance Single submitter
- PTPRM p.Val624Ile Uncertain significance Single submitter
- PTPRM p.Val760Phe Uncertain significance Single submitter
- PTPRM p.Val882Met Uncertain significance Single submitter
-
PTPRM p.Phe1069Leu
Uncertain significance
No assertion criteria
PTPRM-related disorder
Predictors split 37
The independent predictors disagree with each other — read with care.
- PTPRM p.Ala892Thr Uncertain significance Single submitter
- PTPRM p.Arg1240His Uncertain significance Single submitter
- PTPRM p.Arg1408Leu Uncertain significance Single submitter
- PTPRM p.Arg399Leu Uncertain significance Single submitter
- PTPRM p.Asn1012Ser Uncertain significance Single submitter
- PTPRM p.Asn1345Ser Uncertain significance Single submitter
- PTPRM p.Asn47Ser Uncertain significance Single submitter
- PTPRM p.Asp254Asn Uncertain significance Single submitter
- PTPRM p.Asp531Tyr Uncertain significance Single submitter
- PTPRM p.Asp98Tyr Uncertain significance Single submitter
- PTPRM p.Glu1129Lys Uncertain significance Single submitter
- PTPRM p.Glu275Ala Uncertain significance Single submitter
- PTPRM p.Gly1085Ser Uncertain significance Single submitter
- PTPRM p.Gly13Arg Uncertain significance Single submitter
- PTPRM p.Gly168Ala Uncertain significance Single submitter
- PTPRM p.Gly483Val Uncertain significance Single submitter
- PTPRM p.Ile499Met Uncertain significance Single submitter
- PTPRM p.Ile583Met Uncertain significance Single submitter
- PTPRM p.Leu1169Phe Uncertain significance Single submitter
- PTPRM p.Lys906Asn Uncertain significance Single submitter
- PTPRM p.Met1233Thr Uncertain significance Single submitter
- PTPRM p.Met1298Thr Uncertain significance Single submitter
- PTPRM p.Met1444Thr Uncertain significance Single submitter
- PTPRM p.Met63Lys Uncertain significance Single submitter
- PTPRM p.Met69Ile Uncertain significance Single submitter
- PTPRM p.Phe29Leu Uncertain significance Single submitter
- PTPRM p.Phe550Leu Uncertain significance Single submitter
- PTPRM p.Pro555Ser Uncertain significance Single submitter
- PTPRM p.Pro644Leu Uncertain significance Single submitter
- PTPRM p.Ser1174Pro Uncertain significance Single submitter
- PTPRM p.Ser778Arg Uncertain significance Single submitter
- PTPRM p.Ser823Trp Uncertain significance Single submitter
- PTPRM p.Thr1205Met Uncertain significance Single submitter
- PTPRM p.Thr600Ala Uncertain significance Single submitter
- PTPRM p.Tyr911Cys Uncertain significance Single submitter
- PTPRM p.Val1297Ile Uncertain significance Single submitter
- PTPRM p.Val788Leu Uncertain significance Single submitter
All PTPRM variants
Conflicting classifications of pathogenicity 1
- p.Ala590Ser Single submitter ⚠
Benign 16
- p.Ala748= Multiple submitters
- p.Ser39Arg Multiple submitters
- p.Thr445= Multiple submitters
- p.Val333= Multiple submitters
- p.Asp45= Single submitter
- c.4045-5C>T No assertion criteria PTPRM-related disorder
- p.Asn439= No assertion criteria PTPRM-related disorder
- p.Glu1390= No assertion criteria PTPRM-related disorder
- p.Ile1248= No assertion criteria PTPRM-related disorder
- p.Pro1304= No assertion criteria PTPRM-related disorder
- p.Pro1365= No assertion criteria PTPRM-related disorder
- p.Pro1371= No assertion criteria PTPRM-related disorder
- p.Pro402= No assertion criteria PTPRM-related disorder
- p.Thr1398= No assertion criteria PTPRM-related disorder
- p.Tyr660= No assertion criteria PTPRM-related disorder
- p.Val882= No assertion criteria PTPRM-related disorder
Benign/Likely benign 1
- c.664-9T>C Multiple submitters
Likely benign 18
- p.Gly43Asp Single submitter
- p.Leu15= Single submitter
- c.1754-6C>T No assertion criteria PTPRM-related disorder
- c.3462+9G>A No assertion criteria PTPRM-related disorder
- c.839-7C>G No assertion criteria PTPRM-related disorder
- p.Ala198= No assertion criteria PTPRM-related disorder
- p.Ala673= No assertion criteria PTPRM-related disorder
- p.Gln1350= No assertion criteria PTPRM-related disorder
- p.Glu427= No assertion criteria PTPRM-related disorder
- p.Glu49= No assertion criteria PTPRM-related disorder
- p.Gly25= No assertion criteria PTPRM-related disorder
- p.His1227= No assertion criteria PTPRM-related disorder
- p.Met809Ile No assertion criteria PTPRM-related disorder
- p.Pro1075= No assertion criteria PTPRM-related disorder
- p.Pro1243= No assertion criteria PTPRM-related disorder
- p.Pro282= No assertion criteria PTPRM-related disorder
- p.Ser133= No assertion criteria PTPRM-related disorder
- p.Val1430= No assertion criteria PTPRM-related disorder
Uncertain significance 159
- p.Ala1128Gly Single submitter ⚠
- p.Ala1163Glu Single submitter ⚠
- p.Ala1163Val Single submitter ⚠
- p.Ala1221Thr Single submitter ⚠
- p.Ala1347Thr Single submitter ⚠
- p.Ala1414Thr Single submitter ⚠
- p.Ala255Gly Single submitter ⚠
- p.Ala291Thr Single submitter ⚠
- p.Ala744Ser Single submitter ⚠
- p.Ala805Pro Single submitter ⚠
- p.Ala892Thr Single submitter ⚠
- p.Ala908Val Single submitter ⚠
- p.Ala926Thr Single submitter ⚠
- p.Arg1091Gln Single submitter ⚠
- p.Arg1146Gln Single submitter ⚠
- p.Arg1225Trp Single submitter ⚠
- p.Arg1231Gln Single submitter ⚠
- p.Arg1240His Single submitter ⚠
- p.Arg1342Cys Single submitter ⚠
- p.Arg138Cys Single submitter ⚠
- p.Arg1408His Single submitter ⚠
- p.Arg1408Leu Single submitter ⚠
- p.Arg259Cys Single submitter ⚠
- p.Arg263His Single submitter ⚠
- p.Arg399Leu Single submitter ⚠
- p.Arg430Gln Single submitter ⚠
- p.Arg467Gln Single submitter ⚠
- p.Arg538Thr Single submitter ⚠
- p.Arg629His Single submitter ⚠
- p.Arg699Ser Single submitter ⚠
- p.Arg773Gln Single submitter ⚠
- p.Arg894Trp Single submitter ⚠
- p.Arg977Gln Single submitter ⚠
- p.Arg977Ter Single submitter
- p.Asn1012Ser Single submitter ⚠
- p.Asn108Ser Single submitter ⚠
- p.Asn1188Ser Single submitter ⚠
- p.Asn1345Ser Single submitter ⚠
- p.Asn141Ser Single submitter ⚠
- p.Asn454Ser Single submitter ⚠
- p.Asn47Ser Single submitter ⚠
- p.Asn602Asp Single submitter ⚠
- p.Asn801His Single submitter ⚠
- p.Asn979Ser Single submitter ⚠
- p.Asp1076Ala Single submitter ⚠
- p.Asp224Gly Single submitter ⚠
- p.Asp254Asn Single submitter ⚠
- p.Asp531Tyr Single submitter ⚠
- p.Asp864Asn Single submitter ⚠
- p.Asp881Asn Single submitter ⚠
- p.Asp98Tyr Single submitter ⚠
- p.Cys321Arg Single submitter ⚠
- p.Cys716Ser Single submitter ⚠
- p.Cys7Arg Single submitter ⚠
- p.Cys7Phe Single submitter ⚠
- p.Gln422Lys Single submitter ⚠
- p.Glu1002Lys Single submitter ⚠
- p.Glu1129Lys Single submitter ⚠
- p.Glu1390Lys Single submitter ⚠
- p.Glu144Gln Single submitter ⚠
- p.Glu195Gln Single submitter ⚠
- p.Glu275Ala Single submitter ⚠
- p.Glu734Lys Single submitter ⚠
- p.Gly1085Ser Single submitter ⚠
- p.Gly126Glu Single submitter ⚠
- p.Gly1321Asp Single submitter ⚠
- p.Gly1321Ser Single submitter ⚠
- p.Gly13Arg Single submitter ⚠
- p.Gly1465Ser Single submitter ⚠
- p.Gly1465Val Single submitter ⚠
- p.Gly168Ala Single submitter ⚠
- p.Gly425Arg Single submitter ⚠
- p.Gly483Val Single submitter ⚠
- p.Gly537Val Single submitter ⚠
- p.His1082Tyr Single submitter ⚠
- p.His441Tyr Single submitter ⚠
- p.His547Arg Single submitter ⚠
- p.Ile1008Val Single submitter ⚠
- p.Ile1160Thr Single submitter ⚠
- p.Ile1323Val Single submitter ⚠
- p.Ile172Val Single submitter ⚠
- p.Ile242Thr Single submitter ⚠
- p.Ile499Met Single submitter ⚠
- p.Ile518Met Single submitter
- p.Ile583Met Single submitter ⚠
- p.Ile647Val Single submitter ⚠
- p.Ile850Val Single submitter
- p.Ile958Met Single submitter ⚠
- p.Leu1169Phe Single submitter ⚠
- p.Leu14Phe Single submitter ⚠
- p.Leu4Phe Single submitter ⚠
- p.Leu70Met Single submitter ⚠
- p.Lys106Arg Single submitter ⚠
- p.Lys176Gln Single submitter ⚠
- p.Lys56Glu Single submitter ⚠
- p.Lys875Glu Single submitter ⚠
- p.Lys906Asn Single submitter ⚠
- p.Met1233Leu Single submitter
- p.Met1233Thr Single submitter ⚠
- p.Met1261Val Single submitter
- p.Met1298Thr Single submitter ⚠
- p.Met1366Thr Single submitter ⚠
- p.Met1444Thr Single submitter ⚠
- p.Met261Ile Single submitter ⚠
- p.Met607Val Single submitter ⚠
- p.Met63Lys Single submitter ⚠
- p.Met69Ile Single submitter ⚠
- p.Met69Val Single submitter ⚠
- p.Phe201Cys Single submitter
- p.Phe29Leu Single submitter ⚠
- p.Phe550Leu Single submitter ⚠
- p.Phe845Leu Single submitter
- p.Pro1365Leu Single submitter ⚠
- p.Pro136Gln Single submitter ⚠
- p.Pro555Ser Single submitter ⚠
- p.Pro644Leu Single submitter ⚠
- p.Pro879Leu Single submitter ⚠
- p.Ser1174Pro Single submitter ⚠
- p.Ser337Asn Single submitter ⚠
- p.Ser393Thr Single submitter ⚠
- p.Ser778Arg Single submitter ⚠
- p.Ser823Leu Single submitter ⚠
- p.Ser823Trp Single submitter ⚠
- p.Ser833Asn Single submitter ⚠
- p.Ser930Leu Single submitter ⚠
- p.Thr1205Met Single submitter ⚠
- p.Thr185Ser Single submitter ⚠
- p.Thr203Ala Single submitter ⚠
- p.Thr264Ala Single submitter ⚠
- p.Thr264Asn Single submitter ⚠
- p.Thr336Arg Single submitter ⚠
- p.Thr437Ala Single submitter ⚠
- p.Thr600Ala Single submitter ⚠
- p.Thr636Met Single submitter ⚠
- p.Thr962Ala Single submitter ⚠
- p.Tyr1032His Single submitter ⚠
- p.Tyr1185Cys Single submitter ⚠
- p.Tyr33Cys Single submitter ⚠
- p.Tyr695Asn Single submitter ⚠
- p.Tyr911Cys Single submitter ⚠
- p.Tyr971Phe Single submitter ⚠
- p.Val103Ala Single submitter ⚠
- p.Val1090Met Single submitter ⚠
- p.Val1134Ile Single submitter ⚠
- p.Val1140Ile Single submitter ⚠
- p.Val1151Leu Single submitter ⚠
- p.Val1297Ile Single submitter ⚠
- p.Val1325Ala Single submitter ⚠
- p.Val1428Met Single submitter ⚠
- p.Val1457Met Single submitter
- p.Val213Met Single submitter ⚠
- p.Val247Ile Single submitter ⚠
- p.Val512Ile Single submitter ⚠
- p.Val620Phe Single submitter ⚠
- p.Val624Ile Single submitter ⚠
- p.Val760Phe Single submitter ⚠
- p.Val788Leu Single submitter ⚠
- p.Val882Met Single submitter ⚠
- p.Phe1069Leu No assertion criteria PTPRM-related disorder ⚠