AZIN1 — 35 ClinVar variants
All ClinVar germline AZIN1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 31 flagged for review →
1 Benign/Likely benign · 1 Likely benign · 33 Uncertain significance
Full AZIN1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 31
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.
- AZIN1 p.Ala156Val Uncertain significance Single submitter
- AZIN1 p.Ala394Pro Uncertain significance Single submitter
- AZIN1 p.Asn107Ser Uncertain significance Single submitter
- AZIN1 p.Asn148His Uncertain significance Single submitter
- AZIN1 p.Asn167Ser Uncertain significance Single submitter
- AZIN1 p.Asn374Ser Uncertain significance Single submitter
- AZIN1 p.Asp26Glu Uncertain significance Single submitter
- AZIN1 p.Asp308Gly Uncertain significance Single submitter
- AZIN1 p.Cys358Tyr Uncertain significance Single submitter
- AZIN1 p.Glu165Asp Uncertain significance Single submitter
- AZIN1 p.Glu182Gly Uncertain significance Single submitter
- AZIN1 p.Glu262Asp Uncertain significance Single submitter
- AZIN1 p.Glu391Gln Uncertain significance Single submitter
- AZIN1 p.His390Arg Uncertain significance Single submitter
- AZIN1 p.Ile111Val Uncertain significance Single submitter
- AZIN1 p.Ile142Val Uncertain significance Single submitter
- AZIN1 p.Ile364Val Uncertain significance Single submitter
- AZIN1 p.Lys47Arg Uncertain significance Single submitter
- AZIN1 p.Met425Val Uncertain significance Single submitter
- AZIN1 p.Met95Ile Uncertain significance Single submitter
- AZIN1 p.Phe243Cys Uncertain significance Single submitter
- AZIN1 p.Ser326Arg Uncertain significance Single submitter
- AZIN1 p.Thr239Met Uncertain significance Single submitter
- AZIN1 p.Thr350Ala Uncertain significance Single submitter
- AZIN1 p.Thr35Ile Uncertain significance Single submitter
- AZIN1 p.Tyr122His Uncertain significance Single submitter
- AZIN1 p.Tyr342Cys Uncertain significance Single submitter
- AZIN1 p.Val117Ala Uncertain significance Single submitter
- AZIN1 p.Val12Ile Uncertain significance Single submitter
Predictors split 2
The independent predictors disagree with each other — read with care.
All AZIN1 variants
Benign/Likely benign 1
- p.Val59= Multiple submitters
Likely benign 1
- p.Phe389Leu Single submitter
Uncertain significance 33
- p.Ala156Val Single submitter ⚠
- p.Ala394Pro Single submitter ⚠
- p.Arg216Gln Single submitter ⚠
- p.Asn107Ser Single submitter ⚠
- p.Asn148His Single submitter ⚠
- p.Asn167Ser Single submitter ⚠
- p.Asn374Ser Single submitter ⚠
- p.Asp26Glu Single submitter ⚠
- p.Asp308Gly Single submitter ⚠
- p.Cys358Tyr Single submitter ⚠
- p.Glu165Asp Single submitter ⚠
- p.Glu182Gly Single submitter ⚠
- p.Glu262Asp Single submitter ⚠
- p.Glu391Gln Single submitter ⚠
- p.His390Arg Single submitter ⚠
- p.Ile109Thr Single submitter
- p.Ile111Val Single submitter ⚠
- p.Ile142Val Single submitter ⚠
- p.Ile288Thr Single submitter ⚠
- p.Ile364Val Single submitter ⚠
- p.Lys47Arg Single submitter ⚠
- p.Met384Thr Single submitter
- p.Met425Val Single submitter ⚠
- p.Met95Ile Single submitter ⚠
- p.Phe243Cys Single submitter ⚠
- p.Ser326Arg Single submitter ⚠
- p.Thr239Met Single submitter ⚠
- p.Thr350Ala Single submitter ⚠
- p.Thr35Ile Single submitter ⚠
- p.Tyr122His Single submitter ⚠
- p.Tyr342Cys Single submitter ⚠
- p.Val117Ala Single submitter ⚠
- p.Val12Ile Single submitter ⚠