AADACL3 — 53 ClinVar variants
All ClinVar germline AADACL3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 49 flagged for review →
3 Likely benign · 50 Uncertain significance
Full AADACL3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 49
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 32
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- AADACL3 p.Ala271Asp Uncertain significance Single submitter
- AADACL3 p.Ala348Thr Uncertain significance Single submitter
- AADACL3 p.Ala399Val Uncertain significance Single submitter
- AADACL3 p.Arg214Gln Uncertain significance Single submitter
- AADACL3 p.Arg216Gln Uncertain significance Single submitter
- AADACL3 p.Arg238Gly Uncertain significance Single submitter
- AADACL3 p.Arg293Ser Uncertain significance Single submitter
- AADACL3 p.Arg395Lys Uncertain significance Single submitter
- AADACL3 p.Asp77Val Uncertain significance Single submitter
- AADACL3 p.Asp86Asn Uncertain significance Single submitter
- AADACL3 p.Cys109Arg Uncertain significance Single submitter
- AADACL3 p.Cys109Tyr Uncertain significance Single submitter
- AADACL3 p.Glu265Lys Uncertain significance Single submitter
- AADACL3 p.Glu305Lys Uncertain significance Single submitter
- AADACL3 p.Gly195Arg Uncertain significance Single submitter
- AADACL3 p.Gly286Ser Uncertain significance Single submitter
- AADACL3 p.His132Tyr Uncertain significance Single submitter
- AADACL3 p.Ile383Thr Uncertain significance Single submitter
- AADACL3 p.Lys269Asn Uncertain significance Single submitter
- AADACL3 p.Met125Val Uncertain significance Single submitter
- AADACL3 p.Met268Thr Uncertain significance Single submitter
- AADACL3 p.Phe252Val Uncertain significance Single submitter
- AADACL3 p.Pro274Ser Uncertain significance Single submitter
- AADACL3 p.Pro287Ser Uncertain significance Single submitter
- AADACL3 p.Thr90Met Uncertain significance Single submitter
- AADACL3 p.Thr96Ile Uncertain significance Single submitter
- AADACL3 p.Trp369Cys Uncertain significance Single submitter
- AADACL3 p.Tyr281His Uncertain significance Single submitter
- AADACL3 p.Val201Ala Uncertain significance Single submitter
- AADACL3 p.Val201Met Uncertain significance Single submitter
- AADACL3 p.Val342Met Uncertain significance Single submitter
- AADACL3 p.Val401Ile Uncertain significance Single submitter
Predictors split 17
The independent predictors disagree with each other — read with care.
- AADACL3 p.Arg152Cys Uncertain significance Single submitter
- AADACL3 p.Arg186Gln Uncertain significance Single submitter
- AADACL3 p.Arg214Trp Uncertain significance Single submitter
- AADACL3 p.Arg216Trp Uncertain significance Single submitter
- AADACL3 p.Arg350Gln Uncertain significance Single submitter
- AADACL3 p.Arg350Trp Uncertain significance Single submitter
- AADACL3 p.Asp330Tyr Uncertain significance Single submitter
- AADACL3 p.Gln218Glu Uncertain significance Single submitter
- AADACL3 p.Glu373Lys Likely benign Single submitter
- AADACL3 p.Gly120Ser Uncertain significance Single submitter
- AADACL3 p.Gly123Asp Uncertain significance Single submitter
- AADACL3 p.Ile198Arg Uncertain significance Single submitter
- AADACL3 p.Pro213Leu Uncertain significance Single submitter
- AADACL3 p.Pro242Leu Uncertain significance Single submitter
- AADACL3 p.Pro391Leu Uncertain significance Single submitter
- AADACL3 p.Ser353Leu Uncertain significance Single submitter
- AADACL3 p.Tyr299Asn Uncertain significance Single submitter
All AADACL3 variants
Likely benign 3
- p.Glu373Lys Single submitter ⚠
- p.Pro337= Single submitter
- p.Ser136Cys Single submitter
Uncertain significance 50
- p.Ala271Asp Single submitter ⚠
- p.Ala348Thr Single submitter ⚠
- p.Ala399Val Single submitter ⚠
- p.Arg152Cys Single submitter ⚠
- p.Arg186Gln Single submitter ⚠
- p.Arg214Gln Single submitter ⚠
- p.Arg214Trp Single submitter ⚠
- p.Arg216Gln Single submitter ⚠
- p.Arg216Trp Single submitter ⚠
- p.Arg238Gly Single submitter ⚠
- p.Arg293Ser Single submitter ⚠
- p.Arg350Gln Single submitter ⚠
- p.Arg350Trp Single submitter ⚠
- p.Arg395Lys Single submitter ⚠
- p.Asp183Val Single submitter
- p.Asp330Tyr Single submitter ⚠
- p.Asp77Val Single submitter ⚠
- p.Asp86Asn Single submitter ⚠
- p.Cys109Arg Single submitter ⚠
- p.Cys109Tyr Single submitter ⚠
- p.Gln218Glu Single submitter ⚠
- p.Glu265Lys Single submitter ⚠
- p.Glu305Lys Single submitter ⚠
- p.Gly120Ser Single submitter ⚠
- p.Gly122Arg Single submitter
- p.Gly123Asp Single submitter ⚠
- p.Gly195Arg Single submitter ⚠
- p.Gly286Ser Single submitter ⚠
- p.His132Tyr Single submitter ⚠
- p.Ile198Arg Single submitter ⚠
- p.Ile383Thr Single submitter ⚠
- p.Lys269Asn Single submitter ⚠
- p.Met125Val Single submitter ⚠
- p.Met268Thr Single submitter ⚠
- p.Phe252Val Single submitter ⚠
- p.Pro213Leu Single submitter ⚠
- p.Pro242Leu Single submitter ⚠
- p.Pro274Ser Single submitter ⚠
- p.Pro287Ser Single submitter ⚠
- p.Pro391Leu Single submitter ⚠
- p.Ser353Leu Single submitter ⚠
- p.Thr90Met Single submitter ⚠
- p.Thr96Ile Single submitter ⚠
- p.Trp369Cys Single submitter ⚠
- p.Tyr281His Single submitter ⚠
- p.Tyr299Asn Single submitter ⚠
- p.Val201Ala Single submitter ⚠
- p.Val201Met Single submitter ⚠
- p.Val342Met Single submitter ⚠
- p.Val401Ile Single submitter ⚠