AAR2 — 60 ClinVar variants
All ClinVar germline AAR2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 57 flagged for review →
1 Likely pathogenic · 4 Likely benign · 55 Uncertain significance
Full AAR2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 57
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 vs ClinVar 1
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
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AAR2 p.Val174Met
Likely pathogenic
No assertion criteria
ventricular septal defect
Predictors lean, ClinVar uncertain 28
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- AAR2 p.Ala128Thr Uncertain significance Single submitter
- AAR2 p.Ala235Thr Uncertain significance Single submitter
- AAR2 p.Ala371Val Uncertain significance Single submitter
- AAR2 p.Arg180Cys Uncertain significance Single submitter
- AAR2 p.Arg180His Uncertain significance Single submitter
- AAR2 p.Arg194Gln Uncertain significance Single submitter
- AAR2 p.Arg207His Uncertain significance Single submitter
- AAR2 p.Arg360Gln Uncertain significance Single submitter
- AAR2 p.Arg46Gln Uncertain significance Single submitter
- AAR2 p.Cys261Tyr Uncertain significance Single submitter
- AAR2 p.Gln116Arg Uncertain significance Single submitter
- AAR2 p.Gln116Leu Uncertain significance Single submitter
- AAR2 p.Gln154His Uncertain significance Single submitter
- AAR2 p.Gln256Leu Uncertain significance Single submitter
- AAR2 p.Glu105Gln Uncertain significance Single submitter
- AAR2 p.Gly123Glu Uncertain significance Single submitter
- AAR2 p.Gly384Asp Uncertain significance Single submitter
- AAR2 p.Leu10Pro Uncertain significance Single submitter
- AAR2 p.Leu195Pro Uncertain significance Single submitter
- AAR2 p.Phe45Cys Uncertain significance Single submitter
- AAR2 p.Pro372Leu Uncertain significance Single submitter
- AAR2 p.Ser159Cys Uncertain significance Single submitter
- AAR2 p.Ser62Cys Uncertain significance Single submitter
- AAR2 p.Val145Ala Uncertain significance Single submitter
- AAR2 p.Val239Met Uncertain significance Single submitter
- AAR2 p.Val340Met Uncertain significance Single submitter
- AAR2 p.Val71Ala Uncertain significance Single submitter
- AAR2 p.Val71Leu Uncertain significance Single submitter
Predictors split 28
The independent predictors disagree with each other — read with care.
- AAR2 p.Ala365Thr Likely benign Multiple submitters
- AAR2 p.Ala371Asp Uncertain significance Single submitter
- AAR2 p.Arg13His Uncertain significance Single submitter
- AAR2 p.Arg173His Uncertain significance Single submitter
- AAR2 p.Arg194Trp Uncertain significance Single submitter
- AAR2 p.Arg207Cys Uncertain significance Single submitter
- AAR2 p.Arg283Trp Uncertain significance Single submitter
- AAR2 p.Arg46Trp Uncertain significance Single submitter
- AAR2 p.Arg90Cys Uncertain significance Single submitter
- AAR2 p.Asn114Asp Uncertain significance Single submitter
- AAR2 p.Asn241Tyr Uncertain significance Single submitter
- AAR2 p.Asp7Ala Uncertain significance Single submitter
- AAR2 p.Cys185Tyr Uncertain significance Single submitter
- AAR2 p.Gln154Arg Uncertain significance Single submitter
- AAR2 p.Glu107Val Uncertain significance Single submitter
- AAR2 p.Glu151Lys Uncertain significance Single submitter
- AAR2 p.Glu205Gly Uncertain significance Single submitter
- AAR2 p.Glu285Gly Uncertain significance Single submitter
- AAR2 p.Glu379Lys Uncertain significance Single submitter
- AAR2 p.Leu115Val Uncertain significance Single submitter
- AAR2 p.Met6Thr Uncertain significance Single submitter
- AAR2 p.Pro102Ala Uncertain significance Single submitter
- AAR2 p.Pro102Gln Uncertain significance Single submitter
- AAR2 p.Pro53Ala Uncertain significance Single submitter
- AAR2 p.Thr213Met Uncertain significance Single submitter
- AAR2 p.Val145Gly Uncertain significance Single submitter
- AAR2 p.Val174Gly Uncertain significance Single submitter
- AAR2 p.Val315Ile Uncertain significance Single submitter
All AAR2 variants
Likely pathogenic 1
- p.Val174Met No assertion criteria ventricular septal defect ⚠
Likely benign 4
- p.Ala365Thr Multiple submitters ⚠
- p.Glu117= Single submitter
- p.Ile381Val Single submitter
- p.Val4Leu Single submitter
Uncertain significance 55
- p.Ala128Thr Single submitter ⚠
- p.Ala235Thr Single submitter ⚠
- p.Ala371Asp Single submitter ⚠
- p.Ala371Val Single submitter ⚠
- p.Arg13His Single submitter ⚠
- p.Arg173His Single submitter ⚠
- p.Arg180Cys Single submitter ⚠
- p.Arg180His Single submitter ⚠
- p.Arg194Gln Single submitter ⚠
- p.Arg194Trp Single submitter ⚠
- p.Arg207Cys Single submitter ⚠
- p.Arg207His Single submitter ⚠
- p.Arg283Trp Single submitter ⚠
- p.Arg360Gln Single submitter ⚠
- p.Arg46Gln Single submitter ⚠
- p.Arg46Trp Single submitter ⚠
- p.Arg90Cys Single submitter ⚠
- p.Asn114Asp Single submitter ⚠
- p.Asn241Tyr Single submitter ⚠
- p.Asp7Ala Single submitter ⚠
- p.Cys185Tyr Single submitter ⚠
- p.Cys261Tyr Single submitter ⚠
- p.Gln116Arg Single submitter ⚠
- p.Gln116Leu Single submitter ⚠
- p.Gln154Arg Single submitter ⚠
- p.Gln154His Single submitter ⚠
- p.Gln256Leu Single submitter ⚠
- p.Glu105Gln Single submitter ⚠
- p.Glu107Val Single submitter ⚠
- p.Glu151Lys Single submitter ⚠
- p.Glu205Gly Single submitter ⚠
- p.Glu285Gly Single submitter ⚠
- p.Glu379Lys Single submitter ⚠
- p.Gly123Glu Single submitter ⚠
- p.Gly384Asp Single submitter ⚠
- p.Leu10Pro Single submitter ⚠
- p.Leu115Val Single submitter ⚠
- p.Leu195Pro Single submitter ⚠
- p.Met6Thr Single submitter ⚠
- p.Phe45Cys Single submitter ⚠
- p.Pro102Ala Single submitter ⚠
- p.Pro102Gln Single submitter ⚠
- p.Pro372Leu Single submitter ⚠
- p.Pro53Ala Single submitter ⚠
- p.Ser159Cys Single submitter ⚠
- p.Ser62Cys Single submitter ⚠
- p.Thr213Met Single submitter ⚠
- p.Val145Ala Single submitter ⚠
- p.Val145Gly Single submitter ⚠
- p.Val174Gly Single submitter ⚠
- p.Val239Met Single submitter ⚠
- p.Val315Ile Single submitter ⚠
- p.Val340Met Single submitter ⚠
- p.Val71Ala Single submitter ⚠
- p.Val71Leu Single submitter ⚠