AARD — 26 ClinVar variants
All ClinVar germline AARD variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 22 flagged for review →
1 Benign · 3 Likely benign · 22 Uncertain significance
Full AARD gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 22
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.
- AARD p.Arg103Thr Uncertain significance Single submitter
- AARD p.Asp150Glu Uncertain significance Single submitter
- AARD p.Gln130Lys Uncertain significance Single submitter
- AARD p.Gln145Arg Uncertain significance Single submitter
- AARD p.Gln92Glu Uncertain significance Single submitter
- AARD p.Glu11Val Uncertain significance Single submitter
- AARD p.Gly19Ala Uncertain significance Single submitter
- AARD p.Gly2Val Uncertain significance Single submitter
- AARD p.Leu132Ser Uncertain significance Single submitter
- AARD p.Leu17Phe Uncertain significance Single submitter
- AARD p.Leu59Val Uncertain significance Single submitter
- AARD p.Pro32Leu Uncertain significance Single submitter
- AARD p.Pro3Leu Uncertain significance Single submitter
- AARD p.Val71Ala Uncertain significance Single submitter
Predictors split 8
The independent predictors disagree with each other — read with care.
- AARD p.Ala82Thr Uncertain significance Single submitter
- AARD p.Ala82Val Uncertain significance Single submitter
- AARD p.Ala83Gly Uncertain significance Single submitter
- AARD p.Ala85Gly Uncertain significance Single submitter
- AARD p.Glu57Lys Uncertain significance Single submitter
- AARD p.Leu59Phe Uncertain significance Single submitter
- AARD p.Phe6Leu Uncertain significance Single submitter
- AARD p.Thr100Ile Uncertain significance Single submitter
All AARD variants
Benign 1
- p.Ala70= Multiple submitters
Likely benign 3
- p.Lys148Glu Single submitter
- p.Pro154Leu Single submitter
- p.Ala88_Arg89insAla No assertion criteria EBV-positive nodal T- and NK-cell lymphoma
Uncertain significance 22
- p.Ala82Thr Single submitter ⚠
- p.Ala82Val Single submitter ⚠
- p.Ala83Gly Single submitter ⚠
- p.Ala85Gly Single submitter ⚠
- p.Arg103Thr Single submitter ⚠
- p.Asp150Glu Single submitter ⚠
- p.Gln130Lys Single submitter ⚠
- p.Gln145Arg Single submitter ⚠
- p.Gln92Glu Single submitter ⚠
- p.Glu11Val Single submitter ⚠
- p.Glu57Lys Single submitter ⚠
- p.Gly19Ala Single submitter ⚠
- p.Gly2Val Single submitter ⚠
- p.Leu132Ser Single submitter ⚠
- p.Leu17Phe Single submitter ⚠
- p.Leu59Phe Single submitter ⚠
- p.Leu59Val Single submitter ⚠
- p.Phe6Leu Single submitter ⚠
- p.Pro32Leu Single submitter ⚠
- p.Pro3Leu Single submitter ⚠
- p.Thr100Ile Single submitter ⚠
- p.Val71Ala Single submitter ⚠