AZGP1 — 48 ClinVar variants
All ClinVar germline AZGP1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 39 flagged for review →
1 Benign · 9 Likely benign · 38 Uncertain significance
Full AZGP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 39
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 15
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- AZGP1 p.Ala161Asp Uncertain significance Single submitter
- AZGP1 p.Ala276Asp Uncertain significance Single submitter
- AZGP1 p.Ala276Ser Uncertain significance Single submitter
- AZGP1 p.Arg120Trp Uncertain significance Single submitter
- AZGP1 p.Arg177Gln Uncertain significance Single submitter
- AZGP1 p.Arg251Gln Uncertain significance Single submitter
- AZGP1 p.Asn54Lys Uncertain significance Single submitter
- AZGP1 p.Asp110Asn Uncertain significance Single submitter
- AZGP1 p.Glu42Gln Uncertain significance Single submitter
- AZGP1 p.Gly132Arg Uncertain significance Single submitter
- AZGP1 p.Gly260Val Uncertain significance Single submitter
- AZGP1 p.Leu89Pro Uncertain significance Single submitter
- AZGP1 p.Pro20Leu Uncertain significance Single submitter
- AZGP1 p.Pro271Leu Uncertain significance Single submitter
- AZGP1 p.Pro6Ser Uncertain significance Single submitter
Predictors split 24
The independent predictors disagree with each other — read with care.
- AZGP1 p.Ala133Thr Uncertain significance Single submitter
- AZGP1 p.Ala188Val Uncertain significance Single submitter
- AZGP1 p.Ala18Thr Uncertain significance Single submitter
- AZGP1 p.Ala276Val Uncertain significance Single submitter
- AZGP1 p.Arg191Trp Uncertain significance Single submitter
- AZGP1 p.Arg203Gln Likely benign Single submitter
- AZGP1 p.Arg66Ser Uncertain significance Single submitter
- AZGP1 p.Arg93Gly Uncertain significance Single submitter
- AZGP1 p.Asp143His Uncertain significance Single submitter
- AZGP1 p.Asp274Val Uncertain significance Single submitter
- AZGP1 p.Gln162Arg Uncertain significance Single submitter
- AZGP1 p.Gln263His Uncertain significance Single submitter
- AZGP1 p.Glu126Gly Uncertain significance Single submitter
- AZGP1 p.Glu146Lys Uncertain significance Single submitter
- AZGP1 p.Gly141Glu Uncertain significance Single submitter
- AZGP1 p.Gly243Ser Uncertain significance Single submitter
- AZGP1 p.Ile145Thr Uncertain significance Single submitter
- AZGP1 p.Leu182Pro Uncertain significance Single submitter
- AZGP1 p.Pro172Thr Uncertain significance Single submitter
- AZGP1 p.Pro206Ser Uncertain significance Single submitter
- AZGP1 p.Pro70Ala Uncertain significance Single submitter
- AZGP1 p.Thr240Ala Uncertain significance Single submitter
- AZGP1 p.Trp295Cys Uncertain significance Single submitter
- AZGP1 p.Tyr108His Uncertain significance Single submitter
All AZGP1 variants
Benign 1
- p.Val44= Single submitter
Likely benign 9
- p.Ala188Glu Single submitter
- p.Arg191Gln Single submitter
- p.Arg203Gln Single submitter ⚠
- p.Asn109= Single submitter
- p.His281= Single submitter
- p.Lys39Arg Single submitter
- p.Lys64Glu Single submitter
- p.Pro156Ala Single submitter
- p.Tyr228= Single submitter
Uncertain significance 38
- p.Ala133Thr Single submitter ⚠
- p.Ala161Asp Single submitter ⚠
- p.Ala188Val Single submitter ⚠
- p.Ala18Thr Single submitter ⚠
- p.Ala276Asp Single submitter ⚠
- p.Ala276Ser Single submitter ⚠
- p.Ala276Val Single submitter ⚠
- p.Arg120Trp Single submitter ⚠
- p.Arg177Gln Single submitter ⚠
- p.Arg191Trp Single submitter ⚠
- p.Arg251Gln Single submitter ⚠
- p.Arg66Ser Single submitter ⚠
- p.Arg93Gly Single submitter ⚠
- p.Asn54Lys Single submitter ⚠
- p.Asp110Asn Single submitter ⚠
- p.Asp143His Single submitter ⚠
- p.Asp274Val Single submitter ⚠
- p.Gln162Arg Single submitter ⚠
- p.Gln263His Single submitter ⚠
- p.Glu126Gly Single submitter ⚠
- p.Glu146Lys Single submitter ⚠
- p.Glu42Gln Single submitter ⚠
- p.Gly132Arg Single submitter ⚠
- p.Gly141Glu Single submitter ⚠
- p.Gly243Ser Single submitter ⚠
- p.Gly260Val Single submitter ⚠
- p.Ile145Thr Single submitter ⚠
- p.Leu182Pro Single submitter ⚠
- p.Leu89Pro Single submitter ⚠
- p.Pro172Thr Single submitter ⚠
- p.Pro206Ser Single submitter ⚠
- p.Pro20Leu Single submitter ⚠
- p.Pro271Leu Single submitter ⚠
- p.Pro6Ser Single submitter ⚠
- p.Pro70Ala Single submitter ⚠
- p.Thr240Ala Single submitter ⚠
- p.Trp295Cys Single submitter ⚠
- p.Tyr108His Single submitter ⚠