AZU1 — 63 ClinVar variants
All ClinVar germline AZU1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 62 flagged for review →
1 Benign · 62 Uncertain significance
Full AZU1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 62
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 29
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- AZU1 p.Ala65Val Uncertain significance Single submitter
- AZU1 p.Arg158Cys Uncertain significance Single submitter
- AZU1 p.Arg162Cys Uncertain significance Single submitter
- AZU1 p.Arg165Cys Uncertain significance Single submitter
- AZU1 p.Arg192His Uncertain significance Single submitter
- AZU1 p.Arg36His Uncertain significance Single submitter
- AZU1 p.Arg91Ser Uncertain significance Single submitter
- AZU1 p.Arg94Cys Uncertain significance Single submitter
- AZU1 p.Asn171Ser Uncertain significance Single submitter
- AZU1 p.Asp26Gly Uncertain significance Single submitter
- AZU1 p.Cys68Gly Uncertain significance Single submitter
- AZU1 p.Glu104Lys Uncertain significance Single submitter
- AZU1 p.Gly188Ser Uncertain significance Single submitter
- AZU1 p.Gly201Arg Uncertain significance Single submitter
- AZU1 p.Gly53Arg Uncertain significance Single submitter
- AZU1 p.Gly54Ser Uncertain significance Single submitter
- AZU1 p.Gly75Arg Uncertain significance Single submitter
- AZU1 p.His212Tyr Uncertain significance Single submitter
- AZU1 p.Phe235Cys Uncertain significance Single submitter
- AZU1 p.Phe235Leu Uncertain significance Single submitter
- AZU1 p.Pro204Ser Uncertain significance Single submitter
- AZU1 p.Pro39Leu Uncertain significance Single submitter
- AZU1 p.Ser103Arg Uncertain significance Single submitter
- AZU1 p.Ser156Arg Uncertain significance Single submitter
- AZU1 p.Ser218Ala Uncertain significance Single submitter
- AZU1 p.Trp154Arg Uncertain significance Single submitter
- AZU1 p.Val151Met Uncertain significance Single submitter
- AZU1 p.Val28Ile Uncertain significance Single submitter
- AZU1 p.Val80Leu Uncertain significance Single submitter
Predictors split 33
The independent predictors disagree with each other — read with care.
- AZU1 p.Ala145Asp Uncertain significance Single submitter
- AZU1 p.Ala33Ser Uncertain significance Single submitter
- AZU1 p.Ala55Thr Uncertain significance Single submitter
- AZU1 p.Ala55Val Uncertain significance Single submitter
- AZU1 p.Ala59Gly Uncertain significance Single submitter
- AZU1 p.Arg192Cys Uncertain significance Single submitter
- AZU1 p.Arg34Ser Uncertain significance Single submitter
- AZU1 p.Arg89Trp Uncertain significance Single submitter
- AZU1 p.Arg94Gly Uncertain significance Single submitter
- AZU1 p.Asn112Asp Uncertain significance Single submitter
- AZU1 p.Asn126Ser Uncertain significance Single submitter
- AZU1 p.Asn171Lys Uncertain significance Single submitter
- AZU1 p.Asn184Ile Uncertain significance Single submitter
- AZU1 p.Asp108Asn Uncertain significance Single submitter
- AZU1 p.Asp108Tyr Uncertain significance Single submitter
- AZU1 p.Asp240Asn Uncertain significance Single submitter
- AZU1 p.Gly106Val Uncertain significance Single submitter
- AZU1 p.Gly146Ser Uncertain significance Single submitter
- AZU1 p.Gly161Glu Uncertain significance Single submitter
- AZU1 p.Leu121Met Uncertain significance Single submitter
- AZU1 p.Leu219Met Uncertain significance Single submitter
- AZU1 p.Leu7Gln Uncertain significance Single submitter
- AZU1 p.Pro137Ala Uncertain significance Single submitter
- AZU1 p.Pro221Leu Uncertain significance Single submitter
- AZU1 p.Pro248Gln Uncertain significance Single submitter
- AZU1 p.Pro248Leu Uncertain significance Single submitter
- AZU1 p.Pro39Ser Uncertain significance Single submitter
- AZU1 p.Ser17Leu Uncertain significance Single submitter
- AZU1 p.Ser77Asn Uncertain significance Single submitter
- AZU1 p.Thr142Met Uncertain significance Single submitter
- AZU1 p.Thr187Ser Uncertain significance Single submitter
- AZU1 p.Val172Met Uncertain significance Single submitter
- AZU1 p.Val185Met Uncertain significance Single submitter
All AZU1 variants
Benign 1
- p.Val232fs Single submitter
Uncertain significance 62
- p.Ala145Asp Single submitter ⚠
- p.Ala33Ser Single submitter ⚠
- p.Ala55Thr Single submitter ⚠
- p.Ala55Val Single submitter ⚠
- p.Ala59Gly Single submitter ⚠
- p.Ala65Val Single submitter ⚠
- p.Arg158Cys Single submitter ⚠
- p.Arg162Cys Single submitter ⚠
- p.Arg165Cys Single submitter ⚠
- p.Arg192Cys Single submitter ⚠
- p.Arg192His Single submitter ⚠
- p.Arg34Ser Single submitter ⚠
- p.Arg36His Single submitter ⚠
- p.Arg89Trp Single submitter ⚠
- p.Arg91Ser Single submitter ⚠
- p.Arg94Cys Single submitter ⚠
- p.Arg94Gly Single submitter ⚠
- p.Asn112Asp Single submitter ⚠
- p.Asn126Ser Single submitter ⚠
- p.Asn171Lys Single submitter ⚠
- p.Asn171Ser Single submitter ⚠
- p.Asn184Ile Single submitter ⚠
- p.Asp108Asn Single submitter ⚠
- p.Asp108Tyr Single submitter ⚠
- p.Asp240Asn Single submitter ⚠
- p.Asp26Gly Single submitter ⚠
- p.Cys68Gly Single submitter ⚠
- p.Glu104Lys Single submitter ⚠
- p.Gly106Val Single submitter ⚠
- p.Gly146Ser Single submitter ⚠
- p.Gly161Glu Single submitter ⚠
- p.Gly188Ser Single submitter ⚠
- p.Gly201Arg Single submitter ⚠
- p.Gly53Arg Single submitter ⚠
- p.Gly54Ser Single submitter ⚠
- p.Gly75Arg Single submitter ⚠
- p.His212Tyr Single submitter ⚠
- p.Leu121Met Single submitter ⚠
- p.Leu219Met Single submitter ⚠
- p.Leu7Gln Single submitter ⚠
- p.Phe235Cys Single submitter ⚠
- p.Phe235Leu Single submitter ⚠
- p.Pro137Ala Single submitter ⚠
- p.Pro204Ser Single submitter ⚠
- p.Pro221Leu Single submitter ⚠
- p.Pro248Gln Single submitter ⚠
- p.Pro248Leu Single submitter ⚠
- p.Pro39Leu Single submitter ⚠
- p.Pro39Ser Single submitter ⚠
- p.Ser103Arg Single submitter ⚠
- p.Ser156Arg Single submitter ⚠
- p.Ser17Leu Single submitter ⚠
- p.Ser218Ala Single submitter ⚠
- p.Ser77Asn Single submitter ⚠
- p.Thr142Met Single submitter ⚠
- p.Thr187Ser Single submitter ⚠
- p.Trp154Arg Single submitter ⚠
- p.Val151Met Single submitter ⚠
- p.Val172Met Single submitter ⚠
- p.Val185Met Single submitter ⚠
- p.Val28Ile Single submitter ⚠
- p.Val80Leu Single submitter ⚠