AADACL4 — 75 ClinVar variants
All ClinVar germline AADACL4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 57 flagged for review →
12 Likely benign · 63 Uncertain significance
Full AADACL4 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 lean, ClinVar uncertain 41
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- AADACL4 p.Ala176Asp Uncertain significance Single submitter
- AADACL4 p.Ala387Pro Uncertain significance Single submitter
- AADACL4 p.Ala387Thr Uncertain significance Single submitter
- AADACL4 p.Arg246Gln Uncertain significance Single submitter
- AADACL4 p.Arg246Trp Uncertain significance Single submitter
- AADACL4 p.Arg264Cys Uncertain significance Single submitter
- AADACL4 p.Arg366His Uncertain significance Single submitter
- AADACL4 p.Asn136Ser Uncertain significance Single submitter
- AADACL4 p.Asn346Ser Uncertain significance Single submitter
- AADACL4 p.Asp32Val Uncertain significance Single submitter
- AADACL4 p.Glu282Lys Uncertain significance Single submitter
- AADACL4 p.Glu322Asp Uncertain significance Single submitter
- AADACL4 p.Gly121Val Uncertain significance Single submitter
- AADACL4 p.Gly208Asp Uncertain significance Single submitter
- AADACL4 p.Gly270Ser Uncertain significance Single submitter
- AADACL4 p.Gly378Arg Uncertain significance Single submitter
- AADACL4 p.Gly406Asp Uncertain significance Single submitter
- AADACL4 p.His158Asn Uncertain significance Single submitter
- AADACL4 p.His158Leu Uncertain significance Single submitter
- AADACL4 p.Ile171Val Uncertain significance Single submitter
- AADACL4 p.Ile259Val Uncertain significance Single submitter
- AADACL4 p.Ile327Met Uncertain significance Single submitter
- AADACL4 p.Ile407Leu Uncertain significance Single submitter
- AADACL4 p.Ile59Thr Uncertain significance Single submitter
- AADACL4 p.Ile72Val Uncertain significance Single submitter
- AADACL4 p.Lys247Glu Uncertain significance Single submitter
- AADACL4 p.Met148Thr Uncertain significance Single submitter
- AADACL4 p.Met68Leu Uncertain significance Single submitter
- AADACL4 p.Met68Thr Uncertain significance Single submitter
- AADACL4 p.Met68Val Uncertain significance Single submitter
- AADACL4 p.Phe28Ile Uncertain significance Single submitter
- AADACL4 p.Pro104Leu Uncertain significance Single submitter
- AADACL4 p.Pro34Ser Uncertain significance Single submitter
- AADACL4 p.Ser210Pro Uncertain significance Single submitter
- AADACL4 p.Ser78Arg Uncertain significance Single submitter
- AADACL4 p.Ser78Cys Uncertain significance Single submitter
- AADACL4 p.Thr123Ile Uncertain significance Single submitter
- AADACL4 p.Thr31Met Uncertain significance Single submitter
- AADACL4 p.Thr96Met Uncertain significance Single submitter
- AADACL4 p.Val21Phe Uncertain significance Single submitter
- AADACL4 p.Val241Ile Uncertain significance Single submitter
Predictors split 16
The independent predictors disagree with each other — read with care.
- AADACL4 p.Ala328Thr Uncertain significance Single submitter
- AADACL4 p.Arg140Trp Uncertain significance Single submitter
- AADACL4 p.Arg186Gly Uncertain significance Single submitter
- AADACL4 p.Arg216Trp Uncertain significance Single submitter
- AADACL4 p.Arg359Cys Uncertain significance Single submitter
- AADACL4 p.Arg359Ser Uncertain significance Single submitter
- AADACL4 p.Arg73His Uncertain significance Single submitter
- AADACL4 p.Asp211Ala Uncertain significance Single submitter
- AADACL4 p.Asp260Glu Uncertain significance Single submitter
- AADACL4 p.Cys135Trp Uncertain significance Single submitter
- AADACL4 p.Gly114Ala Uncertain significance Single submitter
- AADACL4 p.Leu355Phe Uncertain significance Single submitter
- AADACL4 p.Pro111Thr Uncertain significance Single submitter
- AADACL4 p.Pro291Thr Uncertain significance Single submitter
- AADACL4 p.Pro325Ser Uncertain significance Single submitter
- AADACL4 p.Tyr180Cys Uncertain significance Single submitter
All AADACL4 variants
Likely benign 12
- p.Ala198= Single submitter
- p.Ala198Val Single submitter
- p.Arg214Gln Single submitter
- p.Arg216Gln Single submitter
- p.Arg93His Single submitter
- p.Asp276Glu Single submitter
- p.Gly64Arg Single submitter
- p.His172Asp Single submitter
- p.Ile380Leu Single submitter
- p.Leu388Phe Single submitter
- p.Phe382Leu Single submitter
- p.Val194Ile Single submitter
Uncertain significance 63
- p.Ala176Asp Single submitter ⚠
- p.Ala217Val Single submitter
- p.Ala328Thr Single submitter ⚠
- p.Ala387Pro Single submitter ⚠
- p.Ala387Thr Single submitter ⚠
- p.Arg140Trp Single submitter ⚠
- p.Arg186Gly Single submitter ⚠
- p.Arg216Trp Single submitter ⚠
- p.Arg246Gln Single submitter ⚠
- p.Arg246Trp Single submitter ⚠
- p.Arg264Cys Single submitter ⚠
- p.Arg359Cys Single submitter ⚠
- p.Arg359Ser Single submitter ⚠
- p.Arg366His Single submitter ⚠
- p.Arg73His Single submitter ⚠
- p.Asn136Ser Single submitter ⚠
- p.Asn346Ser Single submitter ⚠
- p.Asp211Ala Single submitter ⚠
- p.Asp260Glu Single submitter ⚠
- p.Asp32Val Single submitter ⚠
- p.Cys135Trp Single submitter ⚠
- p.Gln226Arg Single submitter
- p.Glu282Lys Single submitter ⚠
- p.Glu322Asp Single submitter ⚠
- p.Gly114Ala Single submitter ⚠
- p.Gly121Val Single submitter ⚠
- p.Gly208Asp Single submitter ⚠
- p.Gly270Ser Single submitter ⚠
- p.Gly378Arg Single submitter ⚠
- p.Gly406Asp Single submitter ⚠
- p.His158Asn Single submitter ⚠
- p.His158Leu Single submitter ⚠
- p.Ile171Val Single submitter ⚠
- p.Ile259Val Single submitter ⚠
- p.Ile327Met Single submitter ⚠
- p.Ile407Leu Single submitter ⚠
- p.Ile59Thr Single submitter ⚠
- p.Ile72Val Single submitter ⚠
- p.Leu355Phe Single submitter ⚠
- p.Lys247Glu Single submitter ⚠
- p.Met148Thr Single submitter ⚠
- p.Met68Leu Single submitter ⚠
- p.Met68Thr Single submitter ⚠
- p.Met68Val Single submitter ⚠
- p.Phe28Ile Single submitter ⚠
- p.Phe294Cys Single submitter
- p.Pro104Leu Single submitter ⚠
- p.Pro111Thr Single submitter ⚠
- p.Pro233Leu Single submitter
- p.Pro291Thr Single submitter ⚠
- p.Pro325Ser Single submitter ⚠
- p.Pro34Ser Single submitter ⚠
- p.Ser210Pro Single submitter ⚠
- p.Ser78Arg Single submitter ⚠
- p.Ser78Cys Single submitter ⚠
- p.Thr123Ile Single submitter ⚠
- p.Thr31Met Single submitter ⚠
- p.Thr96Met Single submitter ⚠
- p.Tyr180Cys Single submitter ⚠
- p.Val187Ala Single submitter
- p.Val21Phe Single submitter ⚠
- p.Val241Ile Single submitter ⚠
- p.Val367Met Single submitter