APEX1 — 35 ClinVar variants
All ClinVar germline APEX1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 26 flagged for review →
6 Benign · 6 Likely benign · 23 Uncertain significance
Full APEX1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 26
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 14
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- APEX1 p.Ala43Ser Uncertain significance Single submitter
- APEX1 p.Arg156Trp Uncertain significance Single submitter
- APEX1 p.Arg301Cys Uncertain significance Single submitter
- APEX1 p.Asn102Ser Uncertain significance Single submitter
- APEX1 p.Asp13Asn Uncertain significance Single submitter
- APEX1 p.Glu16Ala Uncertain significance Single submitter
- APEX1 p.Gly145Ser Uncertain significance Single submitter
- APEX1 p.Leu114His Uncertain significance Single submitter
- APEX1 p.Ser123Leu Uncertain significance Single submitter
- APEX1 p.Ser129Thr Uncertain significance Single submitter
- APEX1 p.Thr268Ala Uncertain significance Single submitter
- APEX1 p.Thr268Ser Uncertain significance Single submitter
- APEX1 p.Tyr315His Uncertain significance Single submitter
- APEX1 p.Val131Met Uncertain significance Single submitter
Predictors split 12
The independent predictors disagree with each other — read with care.
- APEX1 p.Gly241Arg Benign Multiple submitters
- APEX1 p.Ile64Val Benign Multiple submitters
- APEX1 p.Glu149Lys Likely benign Single submitter
- APEX1 p.Glu242Lys Uncertain significance Single submitter
- APEX1 p.Glu46Gly Uncertain significance Single submitter
- APEX1 p.Gly57Cys Uncertain significance Single submitter
- APEX1 p.Leu314Val Uncertain significance Single submitter
- APEX1 p.Lys6Glu Uncertain significance Single submitter
- APEX1 p.Pro234Ser Uncertain significance Single submitter
- APEX1 p.Pro49Ser Uncertain significance Single submitter
- APEX1 p.Tyr45Ser Uncertain significance Single submitter
- APEX1 p.Val166Met Uncertain significance Single submitter
All APEX1 variants
Benign 6
- c.246+174T>C Multiple submitters
- c.246+189T>A Multiple submitters
- p.Asp148Glu Multiple submitters
- p.Gly241Arg Multiple submitters ⚠
- p.Ile64Val Multiple submitters ⚠
- p.Tyr269= Single submitter
Likely benign 6
Uncertain significance 23
- p.Ala43Ser Single submitter ⚠
- p.Arg156Trp Single submitter ⚠
- p.Arg301Cys Single submitter ⚠
- p.Asn102Ser Single submitter ⚠
- p.Asp13Asn Single submitter ⚠
- p.Glu16Ala Single submitter ⚠
- p.Glu242Lys Single submitter ⚠
- p.Glu46Gly Single submitter ⚠
- p.Gly145Ser Single submitter ⚠
- p.Gly57Cys Single submitter ⚠
- p.Leu114His Single submitter ⚠
- p.Leu314Val Single submitter ⚠
- p.Lys6Glu Single submitter ⚠
- p.Pro234Ser Single submitter ⚠
- p.Pro49Ser Single submitter ⚠
- p.Ser123Leu Single submitter ⚠
- p.Ser129Thr Single submitter ⚠
- p.Thr268Ala Single submitter ⚠
- p.Thr268Ser Single submitter ⚠
- p.Tyr315His Single submitter ⚠
- p.Tyr45Ser Single submitter ⚠
- p.Val131Met Single submitter ⚠
- p.Val166Met Single submitter ⚠