NCOA1 — 403 ClinVar variants

All ClinVar germline NCOA1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 259 flagged for review →

4 Benign · 120 Likely benign · 279 Uncertain significance

Full NCOA1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 259

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 222

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 222

Predictors split 37

The independent predictors disagree with each other — read with care.

All NCOA1 variants

Benign 4

Likely benign 120

  • p.Ala641= Single submitter
  • p.Ala839Val Single submitter
  • p.Asn1294= Single submitter
  • p.Asn549Ser Single submitter
  • p.Gly284= Single submitter
  • p.Gly478= Single submitter
  • p.Ser339= Single submitter
  • p.Ser389Leu Single submitter
  • p.Ser513= Single submitter
  • p.Thr225= Single submitter
  • p.Thr257= Single submitter
  • p.Thr795Ala Single submitter
  • c.1097+4C>T No assertion criteria NCOA1-related disorder
  • c.2419-8A>G No assertion criteria NCOA1-related disorder
  • c.3201+7G>A No assertion criteria NCOA1-related disorder
  • c.3304-3C>T No assertion criteria NCOA1-related disorder
  • c.3707-10C>A No assertion criteria NCOA1-related disorder
  • c.3881+10C>G No assertion criteria NCOA1-related disorder
  • c.4155+7A>G No assertion criteria NCOA1-related disorder
  • c.713-4G>A No assertion criteria NCOA1-related disorder
  • c.89+3A>G No assertion criteria NCOA1-related disorder
  • c.89+4G>A No assertion criteria NCOA1-related disorder
  • c.-7T>C No assertion criteria NCOA1-related disorder
  • c.*3A>G No assertion criteria NCOA1-related disorder
  • c.*8del No assertion criteria NCOA1-related disorder
  • p.Ala1274= No assertion criteria NCOA1-related disorder
  • p.Ala715= No assertion criteria NCOA1-related disorder
  • p.Ala839= No assertion criteria NCOA1-related disorder
  • p.Ala978= No assertion criteria NCOA1-related disorder
  • p.Arg1073= No assertion criteria NCOA1-related disorder
  • p.Arg1362= No assertion criteria NCOA1-related disorder
  • p.Arg217= No assertion criteria NCOA1-related disorder
  • p.Arg500= No assertion criteria NCOA1-related disorder
  • p.Arg572= No assertion criteria NCOA1-related disorder
  • p.Asn1143= No assertion criteria NCOA1-related disorder
  • p.Asn387= No assertion criteria NCOA1-related disorder
  • p.Asn473= No assertion criteria NCOA1-related disorder
  • p.Asn670= No assertion criteria NCOA1-related disorder
  • p.Asp604= No assertion criteria NCOA1-related disorder
  • p.Asp75= No assertion criteria NCOA1-related disorder
  • p.Asp810= No assertion criteria NCOA1-related disorder
  • p.Asp92= No assertion criteria NCOA1-related disorder
  • p.Gln1071= No assertion criteria NCOA1-related disorder
  • p.Gln597= No assertion criteria NCOA1-related disorder
  • p.Gln628= No assertion criteria NCOA1-related disorder
  • p.Gln912= No assertion criteria NCOA1-related disorder
  • p.Glu138= No assertion criteria NCOA1-related disorder
  • p.Glu213= No assertion criteria NCOA1-related disorder
  • p.Glu289= No assertion criteria NCOA1-related disorder
  • p.Glu587= No assertion criteria NCOA1-related disorder
  • p.Glu934= No assertion criteria NCOA1-related disorder
  • p.Gly1030= No assertion criteria NCOA1-related disorder
  • p.Gly1141= No assertion criteria NCOA1-related disorder
  • p.Gly1220= No assertion criteria NCOA1-related disorder
  • p.Gly1276= No assertion criteria NCOA1-related disorder
  • p.Gly1310= No assertion criteria NCOA1-related disorder
  • p.Gly1405= No assertion criteria NCOA1-related disorder
  • p.Gly622= No assertion criteria NCOA1-related disorder
  • p.Ile159= No assertion criteria NCOA1-related disorder
  • p.Ile99= No assertion criteria NCOA1-related disorder
  • p.Leu144= No assertion criteria NCOA1-related disorder
  • p.Leu173= No assertion criteria NCOA1-related disorder
  • p.Leu177= No assertion criteria NCOA1-related disorder
  • p.Leu346= No assertion criteria NCOA1-related disorder
  • p.Leu753= No assertion criteria NCOA1-related disorder
  • p.Leu827= No assertion criteria NCOA1-related disorder
  • p.Leu873= No assertion criteria NCOA1-related disorder
  • p.Lys33= No assertion criteria NCOA1-related disorder
  • p.Phe1245= No assertion criteria NCOA1-related disorder
  • p.Phe1296= No assertion criteria NCOA1-related disorder
  • p.Pro1048= No assertion criteria NCOA1-related disorder
  • p.Pro1157= No assertion criteria NCOA1-related disorder
  • p.Pro1186= No assertion criteria NCOA1-related disorder
  • p.Pro1223= No assertion criteria NCOA1-related disorder
  • p.Pro1257= No assertion criteria NCOA1-related disorder
  • p.Pro1280= No assertion criteria NCOA1-related disorder
  • p.Pro1304= No assertion criteria NCOA1-related disorder
  • p.Pro1427= No assertion criteria NCOA1-related disorder
  • p.Pro302= No assertion criteria NCOA1-related disorder
  • p.Pro349= No assertion criteria NCOA1-related disorder
  • p.Pro352= No assertion criteria NCOA1-related disorder
  • p.Pro445= No assertion criteria NCOA1-related disorder
  • p.Pro890= No assertion criteria NCOA1-related disorder
  • p.Pro974= No assertion criteria NCOA1-related disorder
  • p.Pro980= No assertion criteria NCOA1-related disorder
  • p.Ser102= No assertion criteria NCOA1-related disorder
  • p.Ser1197= No assertion criteria NCOA1-related disorder
  • p.Ser1275= No assertion criteria NCOA1-related disorder
  • p.Ser1373Pro No assertion criteria NCOA1-related disorder
  • p.Ser155= No assertion criteria NCOA1-related disorder
  • p.Ser2= No assertion criteria NCOA1-related disorder
  • p.Ser22= No assertion criteria NCOA1-related disorder
  • p.Ser241= No assertion criteria NCOA1-related disorder
  • p.Ser308= No assertion criteria NCOA1-related disorder
  • p.Ser389= No assertion criteria NCOA1-related disorder
  • p.Ser429= No assertion criteria NCOA1-related disorder
  • p.Ser495= No assertion criteria NCOA1-related disorder
  • p.Ser675= No assertion criteria NCOA1-related disorder
  • p.Ser856= No assertion criteria NCOA1-related disorder
  • p.Ser9= No assertion criteria NCOA1-related disorder
  • p.Ser970= No assertion criteria NCOA1-related disorder
  • p.Ser997= No assertion criteria NCOA1-related disorder
  • p.Ser999= No assertion criteria NCOA1-related disorder
  • p.Thr1020= No assertion criteria NCOA1-related disorder
  • p.Thr1184= No assertion criteria NCOA1-related disorder
  • p.Thr1305= No assertion criteria NCOA1-related disorder
  • p.Thr1421= No assertion criteria NCOA1-related disorder
  • p.Thr1426= No assertion criteria NCOA1-related disorder
  • p.Thr209= No assertion criteria NCOA1-related disorder
  • p.Thr31= No assertion criteria NCOA1-related disorder
  • p.Thr514= No assertion criteria NCOA1-related disorder
  • p.Thr539= No assertion criteria NCOA1-related disorder
  • p.Thr792= No assertion criteria NCOA1-related disorder
  • p.Thr895= No assertion criteria NCOA1-related disorder
  • p.Val1238Ile No assertion criteria NCOA1-related disorder
  • p.Val1256= No assertion criteria NCOA1-related disorder
  • p.Val634= No assertion criteria NCOA1-related disorder
  • p.Val725= No assertion criteria NCOA1-related disorder
  • p.Val74= No assertion criteria NCOA1-related disorder
  • p.Val968= No assertion criteria NCOA1-related disorder

Uncertain significance 279