TOP2A — 132 ClinVar variants
All ClinVar germline TOP2A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 96 flagged for review →
1 Conflicting · 9 Benign · 1 Benign/Likely benign · 18 Likely benign · 103 Uncertain significance
Full TOP2A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 96
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 75
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- TOP2A p.Pro1194Arg Uncertain significance Multiple submitters
- TOP2A p.Ala1200Ser Uncertain significance Single submitter
- TOP2A p.Ala1208Gly Uncertain significance Single submitter
- TOP2A p.Ala1231Ser Uncertain significance Single submitter
- TOP2A p.Ala201Pro Uncertain significance Single submitter
- TOP2A p.Ala429Thr Uncertain significance Single submitter
- TOP2A p.Ala914Val Uncertain significance Single submitter
- TOP2A p.Arg1053Cys Uncertain significance Single submitter
- TOP2A p.Arg1215His Uncertain significance Single submitter
- TOP2A p.Arg1435Gly Uncertain significance Single submitter
- TOP2A p.Arg1463Cys Uncertain significance Single submitter
- TOP2A p.Arg184Gly Uncertain significance Single submitter
- TOP2A p.Arg793Lys Uncertain significance Single submitter
- TOP2A p.Asn1241Thr Uncertain significance Single submitter
- TOP2A p.Asp1017Val Uncertain significance Single submitter
- TOP2A p.Asp1060Asn Uncertain significance Single submitter
- TOP2A p.Asp1165Gly Uncertain significance Single submitter
- TOP2A p.Asp1331Tyr Uncertain significance Single submitter
- TOP2A p.Asp1473Glu Uncertain significance Single submitter
- TOP2A p.Asp1497Asn Uncertain significance Single submitter
- TOP2A p.Asp442Asn Uncertain significance Single submitter
- TOP2A p.Asp630Asn Uncertain significance Single submitter
- TOP2A p.Cys216Arg Uncertain significance Single submitter
- TOP2A p.Gln1260Arg Uncertain significance Single submitter
- TOP2A p.Gln35Arg Uncertain significance Single submitter
- TOP2A p.Glu1109Lys Uncertain significance Single submitter
- TOP2A p.Glu1209Lys Uncertain significance Single submitter
- TOP2A p.Glu1230Gly Uncertain significance Single submitter
- TOP2A p.Glu1305Lys Uncertain significance Single submitter
- TOP2A p.Glu55Gly Uncertain significance Single submitter
- TOP2A p.Glu712Lys Uncertain significance Single submitter
- TOP2A p.Gly1197Arg Uncertain significance Single submitter
- TOP2A p.Gly1198Arg Uncertain significance Single submitter
- TOP2A p.Gly124Cys Uncertain significance Single submitter
- TOP2A p.Gly1431Cys Uncertain significance Single submitter
- TOP2A p.Gly1431Ser Uncertain significance Single submitter
- TOP2A p.Gly347Val Uncertain significance Single submitter
- TOP2A p.Gly777Cys Uncertain significance Single submitter
- TOP2A p.His1499Tyr Uncertain significance Single submitter
- TOP2A p.Ile118Val Uncertain significance Single submitter
- TOP2A p.Ile1225Thr Uncertain significance Single submitter
- TOP2A p.Ile1519Met Uncertain significance Single submitter
- TOP2A p.Ile403Met Uncertain significance Single submitter
- TOP2A p.Ile844Val Uncertain significance Single submitter
- TOP2A p.Leu1193His Uncertain significance Single submitter
- TOP2A p.Leu1369Pro Uncertain significance Single submitter
- TOP2A p.Leu678Phe Uncertain significance Single submitter
- TOP2A p.Lys101Glu Uncertain significance Single submitter
- TOP2A p.Lys1110Glu Uncertain significance Single submitter
- TOP2A p.Lys1168Arg Uncertain significance Single submitter
- TOP2A p.Lys1275Glu Uncertain significance Single submitter
- TOP2A p.Lys1422Gln Uncertain significance Single submitter
- TOP2A p.Lys1442Glu Uncertain significance Single submitter
- TOP2A p.Lys1511Asn Uncertain significance Single submitter
- TOP2A p.Lys431Arg Uncertain significance Single submitter
- TOP2A p.Lys735Arg Uncertain significance Single submitter
- TOP2A p.Met1131Thr Uncertain significance Single submitter
- TOP2A p.Met539Val Uncertain significance Single submitter
- TOP2A p.Met61Thr Uncertain significance Single submitter
- TOP2A p.Phe1308Ser Uncertain significance Single submitter
- TOP2A p.Phe1336Leu Uncertain significance Single submitter
- TOP2A p.Phe968Ser Uncertain significance Single submitter
- TOP2A p.Pro927Leu Uncertain significance Single submitter
- TOP2A p.Ser1337Leu Uncertain significance Single submitter
- TOP2A p.Ser1452Phe Uncertain significance Single submitter
- TOP2A p.Ser1488Gly Uncertain significance Single submitter
- TOP2A p.Thr1157Ile Uncertain significance Single submitter
- TOP2A p.Thr1324Arg Uncertain significance Single submitter
- TOP2A p.Thr602Asn Uncertain significance Single submitter
- TOP2A p.Thr955Ala Uncertain significance Single submitter
- TOP2A p.Tyr165Cys Uncertain significance Single submitter
- TOP2A p.Tyr684Cys Uncertain significance Single submitter
- TOP2A p.Tyr830His Uncertain significance Single submitter
- TOP2A p.Val1384Ile Uncertain significance Single submitter
- TOP2A p.Val179Met Uncertain significance Single submitter
Predictors split 21
The independent predictors disagree with each other — read with care.
- TOP2A p.Arg1146Gly Uncertain significance Single submitter
- TOP2A p.Arg1146Ser Uncertain significance Single submitter
- TOP2A p.Arg870His Uncertain significance Single submitter
- TOP2A p.Glu180Gln Uncertain significance Single submitter
- TOP2A p.Glu180Val Uncertain significance Single submitter
- TOP2A p.Gly1081Arg Uncertain significance Single submitter
- TOP2A p.Gly1216Cys Uncertain significance Single submitter
- TOP2A p.His290Gln Uncertain significance Single submitter
- TOP2A p.Ile141Val Uncertain significance Single submitter
- TOP2A p.Lys1196Ile Uncertain significance Single submitter
- TOP2A p.Met360Val Uncertain significance Single submitter
- TOP2A p.Ser1469Phe Uncertain significance Single submitter
- TOP2A p.Ser1474Tyr Uncertain significance Single submitter
- TOP2A p.Ser1512Tyr Uncertain significance Single submitter
- TOP2A p.Ser994Cys Uncertain significance Single submitter
- TOP2A p.Thr250Ile Uncertain significance Single submitter
- TOP2A p.Tyr1030Cys Uncertain significance Single submitter
- TOP2A p.Val107Leu Uncertain significance Single submitter
- TOP2A p.Val742Leu Uncertain significance Single submitter
- TOP2A p.Val970Leu Uncertain significance Single submitter
- TOP2A p.Met888Val Uncertain significance No assertion criteria
All TOP2A variants
Conflicting classifications of pathogenicity 1
- c.1737+5G>A Single submitter
Benign 9
- p.Ala243= Multiple submitters
- p.Glu571= Multiple submitters
- p.Lys976= Multiple submitters
- c.4088+8T>C Single submitter
- p.Arg1160Ser Single submitter
- p.Pro927= Single submitter
- p.Thr1343= Single submitter
- p.Val1097Ala Single submitter
- p.Thr1470= No assertion criteria TOP2A-related disorder
Benign/Likely benign 1
- p.Ser390= Multiple submitters
Likely benign 18
- p.Asn774Ile Multiple submitters
- p.Gly1197Ala Multiple submitters
- p.Gly1197Glu Multiple submitters
- p.Pro643= Multiple submitters
- p.Arg1215Cys Single submitter
- p.Glu1092= Single submitter
- p.Glu1404= Single submitter
- p.Gly449Ser Single submitter
- p.Ile1225Val Single submitter
- p.Lys893Arg Single submitter
- p.Met303Ile Single submitter
- p.Ser230Arg Single submitter
- p.Thr456= Single submitter
- p.Val1376Met Single submitter
- p.Val928Ile Single submitter
- p.Gly122= No assertion criteria TOP2A-related disorder
- p.Ile88Thr No assertion criteria long QT syndrome
- p.Thr1124= No assertion criteria TOP2A-related disorder
Uncertain significance 103
- p.Pro1194Arg Multiple submitters ⚠
- p.Ala1200Ser Single submitter ⚠
- p.Ala1208Gly Single submitter ⚠
- p.Ala1231Ser Single submitter ⚠
- p.Ala201Pro Single submitter ⚠
- p.Ala429Thr Single submitter ⚠
- p.Ala914Val Single submitter ⚠
- p.Arg1053Cys Single submitter ⚠
- p.Arg1146Gly Single submitter ⚠
- p.Arg1146Ser Single submitter ⚠
- p.Arg1215His Single submitter ⚠
- p.Arg1435Gly Single submitter ⚠
- p.Arg1463Cys Single submitter ⚠
- p.Arg1514Trp Single submitter
- p.Arg184Gly Single submitter ⚠
- p.Arg793Lys Single submitter ⚠
- p.Arg870His Single submitter ⚠
- p.Asn1241Thr Single submitter ⚠
- p.Asp1017Val Single submitter ⚠
- p.Asp1060Asn Single submitter ⚠
- p.Asp1165Gly Single submitter ⚠
- p.Asp1331Tyr Single submitter ⚠
- p.Asp1473Glu Single submitter ⚠
- p.Asp1497Asn Single submitter ⚠
- p.Asp442Asn Single submitter ⚠
- p.Asp630Asn Single submitter ⚠
- p.Cys216Arg Single submitter ⚠
- p.Gln1051Arg Single submitter
- p.Gln1260Arg Single submitter ⚠
- p.Gln35Arg Single submitter ⚠
- p.Glu1109Lys Single submitter ⚠
- p.Glu1209Lys Single submitter ⚠
- p.Glu1230Gly Single submitter ⚠
- p.Glu1305Lys Single submitter ⚠
- p.Glu180Gln Single submitter ⚠
- p.Glu180Val Single submitter ⚠
- p.Glu55Gly Single submitter ⚠
- p.Glu712Lys Single submitter ⚠
- p.Gly1081Arg Single submitter ⚠
- p.Gly1197Arg Single submitter ⚠
- p.Gly1198Arg Single submitter ⚠
- p.Gly1216Cys Single submitter ⚠
- p.Gly124Cys Single submitter ⚠
- p.Gly1431Cys Single submitter ⚠
- p.Gly1431Ser Single submitter ⚠
- p.Gly347Val Single submitter ⚠
- p.Gly777Cys Single submitter ⚠
- p.His1499Tyr Single submitter ⚠
- p.His290Gln Single submitter ⚠
- p.Ile118Val Single submitter ⚠
- p.Ile1225Thr Single submitter ⚠
- p.Ile141Val Single submitter ⚠
- p.Ile1519Met Single submitter ⚠
- p.Ile403Met Single submitter ⚠
- p.Ile844Val Single submitter ⚠
- p.Ile954Leu Single submitter
- p.Leu1193His Single submitter ⚠
- p.Leu1369Pro Single submitter ⚠
- p.Leu678Phe Single submitter ⚠
- p.Leu783Phe Single submitter
- p.Lys101Glu Single submitter ⚠
- p.Lys1110Glu Single submitter ⚠
- p.Lys1168Arg Single submitter ⚠
- p.Lys1196Ile Single submitter ⚠
- p.Lys1275Glu Single submitter ⚠
- p.Lys1422Gln Single submitter ⚠
- p.Lys1442Glu Single submitter ⚠
- p.Lys1511Asn Single submitter ⚠
- p.Lys431Arg Single submitter ⚠
- p.Lys519Ter Single submitter
- p.Lys735Arg Single submitter ⚠
- p.Met1131Thr Single submitter ⚠
- p.Met360Val Single submitter ⚠
- p.Met539Val Single submitter ⚠
- p.Met61Thr Single submitter ⚠
- p.Met718Thr Single submitter
- p.Phe1308Ser Single submitter ⚠
- p.Phe1336Leu Single submitter ⚠
- p.Phe968Ser Single submitter ⚠
- p.Pro927Leu Single submitter ⚠
- p.Ser1337Leu Single submitter ⚠
- p.Ser1452Phe Single submitter ⚠
- p.Ser1469Phe Single submitter ⚠
- p.Ser1474Tyr Single submitter ⚠
- p.Ser1488Gly Single submitter ⚠
- p.Ser1512Tyr Single submitter ⚠
- p.Ser994Cys Single submitter ⚠
- p.Thr1157Ile Single submitter ⚠
- p.Thr1324Arg Single submitter ⚠
- p.Thr1343fs Single submitter
- p.Thr250Ile Single submitter ⚠
- p.Thr602Asn Single submitter ⚠
- p.Thr955Ala Single submitter ⚠
- p.Tyr1030Cys Single submitter ⚠
- p.Tyr165Cys Single submitter ⚠
- p.Tyr684Cys Single submitter ⚠
- p.Tyr830His Single submitter ⚠
- p.Val107Leu Single submitter ⚠
- p.Val1384Ile Single submitter ⚠
- p.Val179Met Single submitter ⚠
- p.Val742Leu Single submitter ⚠
- p.Val970Leu Single submitter ⚠
- p.Met888Val No assertion criteria ⚠