AADACL2 — 59 ClinVar variants
All ClinVar germline AADACL2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 53 flagged for review →
3 Likely benign · 56 Uncertain significance
Full AADACL2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 53
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 37
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- AADACL2 p.Ala148Thr Uncertain significance Single submitter
- AADACL2 p.Ala186Val Uncertain significance Single submitter
- AADACL2 p.Ala197Val Uncertain significance Single submitter
- AADACL2 p.Ala373Val Uncertain significance Single submitter
- AADACL2 p.Arg355Leu Uncertain significance Single submitter
- AADACL2 p.Asn52Asp Uncertain significance Single submitter
- AADACL2 p.Cys12Phe Uncertain significance Single submitter
- AADACL2 p.Gln122Glu Uncertain significance Single submitter
- AADACL2 p.Glu367Asp Uncertain significance Single submitter
- AADACL2 p.Gly187Arg Uncertain significance Single submitter
- AADACL2 p.His269Tyr Uncertain significance Single submitter
- AADACL2 p.Ile247Thr Uncertain significance Single submitter
- AADACL2 p.Ile335Met Uncertain significance Single submitter
- AADACL2 p.Ile389Val Uncertain significance Single submitter
- AADACL2 p.Leu252Ser Uncertain significance Single submitter
- AADACL2 p.Leu309Ser Uncertain significance Single submitter
- AADACL2 p.Met392Thr Uncertain significance Single submitter
- AADACL2 p.Met64Ile Uncertain significance Single submitter
- AADACL2 p.Phe117Tyr Uncertain significance Single submitter
- AADACL2 p.Phe19Leu Uncertain significance Single submitter
- AADACL2 p.Pro180Ser Uncertain significance Single submitter
- AADACL2 p.Pro22Ser Uncertain significance Single submitter
- AADACL2 p.Pro271Ser Uncertain significance Single submitter
- AADACL2 p.Pro271Thr Uncertain significance Single submitter
- AADACL2 p.Ser17Phe Uncertain significance Single submitter
- AADACL2 p.Ser375Thr Uncertain significance Single submitter
- AADACL2 p.Ser75Pro Uncertain significance Single submitter
- AADACL2 p.Thr132Met Uncertain significance Single submitter
- AADACL2 p.Thr181Ala Uncertain significance Single submitter
- AADACL2 p.Thr298Ala Uncertain significance Single submitter
- AADACL2 p.Thr313Arg Uncertain significance Single submitter
- AADACL2 p.Thr80Ile Uncertain significance Single submitter
- AADACL2 p.Thr82Asn Uncertain significance Single submitter
- AADACL2 p.Tyr78His Uncertain significance Single submitter
- AADACL2 p.Val164Ile Uncertain significance Single submitter
- AADACL2 p.Val250Met Uncertain significance Single submitter
- AADACL2 p.Val296Ala Uncertain significance Single submitter
Predictors split 16
The independent predictors disagree with each other — read with care.
- AADACL2 p.Ala197Gly Uncertain significance Single submitter
- AADACL2 p.Ala322Val Uncertain significance Single submitter
- AADACL2 p.Ala373Asp Uncertain significance Single submitter
- AADACL2 p.Arg105Gln Uncertain significance Single submitter
- AADACL2 p.Arg388Ser Uncertain significance Single submitter
- AADACL2 p.Cys116Arg Uncertain significance Single submitter
- AADACL2 p.Gly113Ser Uncertain significance Single submitter
- AADACL2 p.Ile208Arg Uncertain significance Single submitter
- AADACL2 p.Leu194Phe Uncertain significance Single submitter
- AADACL2 p.Leu277Pro Uncertain significance Single submitter
- AADACL2 p.Phe376Ser Uncertain significance Single submitter
- AADACL2 p.Phe50Ser Uncertain significance Single submitter
- AADACL2 p.Pro288Leu Uncertain significance Single submitter
- AADACL2 p.Thr242Ile Uncertain significance Single submitter
- AADACL2 p.Thr42Ile Uncertain significance Single submitter
- AADACL2 p.Val91Ala Uncertain significance Single submitter
All AADACL2 variants
Likely benign 3
- p.Arg355Gln Single submitter
- p.Arg384His Single submitter
- p.His340Tyr Single submitter
Uncertain significance 56
- p.Ala148Thr Single submitter ⚠
- p.Ala186Val Single submitter ⚠
- p.Ala197Gly Single submitter ⚠
- p.Ala197Val Single submitter ⚠
- p.Ala322Val Single submitter ⚠
- p.Ala373Asp Single submitter ⚠
- p.Ala373Val Single submitter ⚠
- p.Arg105Gln Single submitter ⚠
- p.Arg355Leu Single submitter ⚠
- p.Arg388Ser Single submitter ⚠
- p.Asn52Asp Single submitter ⚠
- p.Asp314His Single submitter
- p.Cys116Arg Single submitter ⚠
- p.Cys12Phe Single submitter ⚠
- p.Gln122Glu Single submitter ⚠
- p.Glu367Asp Single submitter ⚠
- p.Gly113Ser Single submitter ⚠
- p.Gly187Arg Single submitter ⚠
- p.His269Tyr Single submitter ⚠
- p.Ile208Arg Single submitter ⚠
- p.Ile247Thr Single submitter ⚠
- p.Ile335Met Single submitter ⚠
- p.Ile389Val Single submitter ⚠
- p.Leu194Phe Single submitter ⚠
- p.Leu252Ser Single submitter ⚠
- p.Leu277Pro Single submitter ⚠
- p.Leu309Ser Single submitter ⚠
- p.Met392Thr Single submitter ⚠
- p.Met64Ile Single submitter ⚠
- p.Phe117Tyr Single submitter ⚠
- p.Phe19Leu Single submitter ⚠
- p.Phe376Ser Single submitter ⚠
- p.Phe50Ser Single submitter ⚠
- p.Pro180Ser Single submitter ⚠
- p.Pro22Ser Single submitter ⚠
- p.Pro271Ser Single submitter ⚠
- p.Pro271Thr Single submitter ⚠
- p.Pro288Leu Single submitter ⚠
- p.Ser17Phe Single submitter ⚠
- p.Ser375Thr Single submitter ⚠
- p.Ser75Pro Single submitter ⚠
- p.Thr132Met Single submitter ⚠
- p.Thr181Ala Single submitter ⚠
- p.Thr242Ile Single submitter ⚠
- p.Thr298Ala Single submitter ⚠
- p.Thr313Arg Single submitter ⚠
- p.Thr42Ile Single submitter ⚠
- p.Thr80Ile Single submitter ⚠
- p.Thr82Asn Single submitter ⚠
- p.Tyr176Cys Single submitter
- p.Tyr78His Single submitter ⚠
- p.Val107Ala Single submitter
- p.Val164Ile Single submitter ⚠
- p.Val250Met Single submitter ⚠
- p.Val296Ala Single submitter ⚠
- p.Val91Ala Single submitter ⚠