APEX2 — 67 ClinVar variants
All ClinVar germline APEX2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 55 flagged for review →
1 Conflicting · 3 Benign · 11 Likely benign · 52 Uncertain significance
Full APEX2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 55
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 25
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- APEX2 p.Ala126Ser Uncertain significance Single submitter
- APEX2 p.Ala160Val Uncertain significance Single submitter
- APEX2 p.Ala29Ser Uncertain significance Single submitter
- APEX2 p.Ala372Gly Uncertain significance Single submitter
- APEX2 p.Arg173His Uncertain significance Single submitter
- APEX2 p.Arg452Gln Uncertain significance Single submitter
- APEX2 p.Arg452Leu Uncertain significance Single submitter
- APEX2 p.Arg516Ser Uncertain significance Single submitter
- APEX2 p.Asn271Lys Uncertain significance Single submitter
- APEX2 p.Asp40His Uncertain significance Single submitter
- APEX2 p.Gln358Leu Uncertain significance Single submitter
- APEX2 p.Glu448Val Uncertain significance Single submitter
- APEX2 p.Gly114Arg Uncertain significance Single submitter
- APEX2 p.Gly471Ser Uncertain significance Single submitter
- APEX2 p.His239Gln Uncertain significance Single submitter
- APEX2 p.His239Pro Uncertain significance Single submitter
- APEX2 p.Ile205Val Uncertain significance Single submitter
- APEX2 p.Leu276Val Uncertain significance Single submitter
- APEX2 p.Met418Ile Uncertain significance Single submitter
- APEX2 p.Met418Val Uncertain significance Single submitter
- APEX2 p.Pro424Leu Uncertain significance Single submitter
- APEX2 p.Thr105Ser Uncertain significance Single submitter
- APEX2 p.Thr200Ile Uncertain significance Single submitter
- APEX2 p.Val432Ala Uncertain significance Single submitter
- APEX2 p.Val4Leu Uncertain significance Single submitter
Predictors split 29
The independent predictors disagree with each other — read with care.
- APEX2 p.Arg141Cys Likely benign Multiple submitters
- APEX2 p.Ala267Thr Uncertain significance Single submitter
- APEX2 p.Arg125Trp Uncertain significance Single submitter
- APEX2 p.Arg176His Uncertain significance Single submitter
- APEX2 p.Arg327Cys Uncertain significance Single submitter
- APEX2 p.Arg327His Uncertain significance Single submitter
- APEX2 p.Arg491Gly Uncertain significance Single submitter
- APEX2 p.Arg74His Uncertain significance Single submitter
- APEX2 p.Arg76Cys Uncertain significance Single submitter
- APEX2 p.Asn392His Uncertain significance Single submitter
- APEX2 p.Cys260Ser Uncertain significance Single submitter
- APEX2 p.Gln390Arg Uncertain significance Single submitter
- APEX2 p.Glu166Lys Uncertain significance Single submitter
- APEX2 p.Glu255Gly Uncertain significance Single submitter
- APEX2 p.Gly145Val Uncertain significance Single submitter
- APEX2 p.Gly485Ala Uncertain significance Single submitter
- APEX2 p.Gly65Cys Uncertain significance Single submitter
- APEX2 p.His269Tyr Likely benign Single submitter
- APEX2 p.Ile205Thr Uncertain significance Single submitter
- APEX2 p.Leu177Phe Uncertain significance Single submitter
- APEX2 p.Leu46Phe Uncertain significance Single submitter
- APEX2 p.Ser129Asn Uncertain significance Single submitter
- APEX2 p.Ser355Leu Uncertain significance Single submitter
- APEX2 p.Ser458Cys Uncertain significance Single submitter
- APEX2 p.Thr377Ile Uncertain significance Single submitter
- APEX2 p.Tyr272Asp Uncertain significance Single submitter
- APEX2 p.Val279Leu Uncertain significance Single submitter
- APEX2 p.Val344Phe Uncertain significance Single submitter
- APEX2 p.Val459Met Uncertain significance Single submitter
All APEX2 variants
Conflicting classifications of pathogenicity 1
- p.Gly470Arg Single submitter ⚠
Likely benign 11
- p.Arg141Cys Multiple submitters ⚠
- p.Ala28Thr Single submitter
- p.Ala420Thr Single submitter
- p.Arg364Gln Single submitter
- p.Arg375His Single submitter
- p.Asn89Ser Single submitter
- p.Gln373= Single submitter
- p.His269Tyr Single submitter ⚠
- p.Leu195= Single submitter
- p.Met422Val Single submitter
- p.Val384Ala Single submitter
Uncertain significance 52
- p.Ala126Ser Single submitter ⚠
- p.Ala160Val Single submitter ⚠
- p.Ala267Thr Single submitter ⚠
- p.Ala29Ser Single submitter ⚠
- p.Ala372Gly Single submitter ⚠
- p.Arg125Trp Single submitter ⚠
- p.Arg173His Single submitter ⚠
- p.Arg176His Single submitter ⚠
- p.Arg327Cys Single submitter ⚠
- p.Arg327His Single submitter ⚠
- p.Arg452Gln Single submitter ⚠
- p.Arg452Leu Single submitter ⚠
- p.Arg491Gly Single submitter ⚠
- p.Arg516Ser Single submitter ⚠
- p.Arg74His Single submitter ⚠
- p.Arg76Cys Single submitter ⚠
- p.Asn271Lys Single submitter ⚠
- p.Asn392His Single submitter ⚠
- p.Asp40His Single submitter ⚠
- p.Cys260Ser Single submitter ⚠
- p.Gln358Leu Single submitter ⚠
- p.Gln390Arg Single submitter ⚠
- p.Glu166Lys Single submitter ⚠
- p.Glu255Gly Single submitter ⚠
- p.Glu448Val Single submitter ⚠
- p.Gly114Arg Single submitter ⚠
- p.Gly145Val Single submitter ⚠
- p.Gly471Ser Single submitter ⚠
- p.Gly485Ala Single submitter ⚠
- p.Gly65Cys Single submitter ⚠
- p.His239Gln Single submitter ⚠
- p.His239Pro Single submitter ⚠
- p.Ile205Thr Single submitter ⚠
- p.Ile205Val Single submitter ⚠
- p.Leu177Phe Single submitter ⚠
- p.Leu276Val Single submitter ⚠
- p.Leu46Phe Single submitter ⚠
- p.Met418Ile Single submitter ⚠
- p.Met418Val Single submitter ⚠
- p.Pro424Leu Single submitter ⚠
- p.Ser129Asn Single submitter ⚠
- p.Ser355Leu Single submitter ⚠
- p.Ser458Cys Single submitter ⚠
- p.Thr105Ser Single submitter ⚠
- p.Thr200Ile Single submitter ⚠
- p.Thr377Ile Single submitter ⚠
- p.Tyr272Asp Single submitter ⚠
- p.Val279Leu Single submitter ⚠
- p.Val344Phe Single submitter ⚠
- p.Val432Ala Single submitter ⚠
- p.Val459Met Single submitter ⚠
- p.Val4Leu Single submitter ⚠