PTPN7 — 66 ClinVar variants
All ClinVar germline PTPN7 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 43 flagged for review →
4 Likely benign · 62 Uncertain significance
Full PTPN7 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 43
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 33
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PTPN7 p.Ala120Thr Uncertain significance Single submitter
- PTPN7 p.Ala313Ser Uncertain significance Single submitter
- PTPN7 p.Ala4Ser Uncertain significance Single submitter
- PTPN7 p.Arg10Gly Uncertain significance Single submitter
- PTPN7 p.Arg135His Uncertain significance Single submitter
- PTPN7 p.Arg140Gln Uncertain significance Single submitter
- PTPN7 p.Arg198Gln Uncertain significance Single submitter
- PTPN7 p.Arg221His Uncertain significance Single submitter
- PTPN7 p.Arg269His Uncertain significance Single submitter
- PTPN7 p.Arg305Gln Uncertain significance Single submitter
- PTPN7 p.Arg53Trp Uncertain significance Single submitter
- PTPN7 p.Arg68Trp Uncertain significance Single submitter
- PTPN7 p.Asn151Ser Uncertain significance Single submitter
- PTPN7 p.Asp224Asn Uncertain significance Single submitter
- PTPN7 p.Cys62Ser Uncertain significance Single submitter
- PTPN7 p.Gly216Glu Uncertain significance Single submitter
- PTPN7 p.Gly7Trp Uncertain significance Single submitter
- PTPN7 p.His5Tyr Uncertain significance Single submitter
- PTPN7 p.Ile150Asn Uncertain significance Single submitter
- PTPN7 p.Ile222Met Uncertain significance Single submitter
- PTPN7 p.Ile287Met Uncertain significance Single submitter
- PTPN7 p.Ile295Thr Uncertain significance Single submitter
- PTPN7 p.Ile302Met Uncertain significance Single submitter
- PTPN7 p.Leu190Phe Uncertain significance Single submitter
- PTPN7 p.Leu354Val Uncertain significance Single submitter
- PTPN7 p.Lys126Thr Uncertain significance Single submitter
- PTPN7 p.Met225Thr Uncertain significance Single submitter
- PTPN7 p.Pro358Ala Uncertain significance Single submitter
- PTPN7 p.Ser177Leu Uncertain significance Single submitter
- PTPN7 p.Ser177Pro Uncertain significance Single submitter
- PTPN7 p.Ser253Leu Uncertain significance Single submitter
- PTPN7 p.Trp85Cys Uncertain significance Single submitter
- PTPN7 p.Val58Ile Uncertain significance Single submitter
Predictors split 10
The independent predictors disagree with each other — read with care.
- PTPN7 p.Arg234Gln Uncertain significance Single submitter
- PTPN7 p.Arg269Cys Uncertain significance Single submitter
- PTPN7 p.Arg84Cys Uncertain significance Single submitter
- PTPN7 p.Asp51Glu Uncertain significance Single submitter
- PTPN7 p.Gly315Glu Uncertain significance Single submitter
- PTPN7 p.Gly331Ala Uncertain significance Single submitter
- PTPN7 p.Thr237Asn Uncertain significance Single submitter
- PTPN7 p.Thr304Met Uncertain significance Single submitter
- PTPN7 p.Tyr350His Uncertain significance Single submitter
- PTPN7 p.Val205Gly Uncertain significance Single submitter
All PTPN7 variants
Likely benign 4
- p.Ala57= Single submitter
- p.Arg8Cys Single submitter
- p.Ile250Val Single submitter
- p.Pro13Leu Single submitter
Uncertain significance 62
- c.160G>A Single submitter
- c.25A>T Single submitter
- c.-104A>G Single submitter
- c.-107C>A Single submitter
- c.-12C>A Single submitter
- c.-21G>A Single submitter
- c.-26C>T Single submitter
- c.-2G>A Single submitter
- c.-5T>G Single submitter
- c.-7C>A Single submitter
- p.Ala120Thr Single submitter ⚠
- p.Ala303Thr Single submitter
- p.Ala313Ser Single submitter ⚠
- p.Ala46Val Single submitter
- p.Ala4Ser Single submitter ⚠
- p.Arg10Gly Single submitter ⚠
- p.Arg135His Single submitter ⚠
- p.Arg140Gln Single submitter ⚠
- p.Arg198Gln Single submitter ⚠
- p.Arg221His Single submitter ⚠
- p.Arg234Gln Single submitter ⚠
- p.Arg24Trp Single submitter
- p.Arg269Cys Single submitter ⚠
- p.Arg269His Single submitter ⚠
- p.Arg305Gln Single submitter ⚠
- p.Arg53Trp Single submitter ⚠
- p.Arg68Trp Single submitter ⚠
- p.Arg84Cys Single submitter ⚠
- p.Asn151Ser Single submitter ⚠
- p.Asp224Asn Single submitter ⚠
- p.Asp51Glu Single submitter ⚠
- p.Cys62Ser Single submitter ⚠
- p.Gln310Arg Single submitter
- p.Glu38Lys Single submitter
- p.Gly13Val Single submitter
- p.Gly216Glu Single submitter ⚠
- p.Gly315Glu Single submitter ⚠
- p.Gly331Ala Single submitter ⚠
- p.Gly39Ser Single submitter
- p.Gly7Trp Single submitter ⚠
- p.His5Tyr Single submitter ⚠
- p.Ile150Asn Single submitter ⚠
- p.Ile222Met Single submitter ⚠
- p.Ile287Met Single submitter ⚠
- p.Ile295Thr Single submitter ⚠
- p.Ile302Met Single submitter ⚠
- p.Leu190Phe Single submitter ⚠
- p.Leu354Val Single submitter ⚠
- p.Lys126Thr Single submitter ⚠
- p.Met225Thr Single submitter ⚠
- p.Pro358Ala Single submitter ⚠
- p.Pro66Ser Single submitter
- p.Ser177Leu Single submitter ⚠
- p.Ser177Pro Single submitter ⚠
- p.Ser253Leu Single submitter ⚠
- p.Ser60Phe Single submitter
- p.Thr237Asn Single submitter ⚠
- p.Thr304Met Single submitter ⚠
- p.Trp85Cys Single submitter ⚠
- p.Tyr350His Single submitter ⚠
- p.Val205Gly Single submitter ⚠
- p.Val58Ile Single submitter ⚠