AZIN2 — 57 ClinVar variants
All ClinVar germline AZIN2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 52 flagged for review →
3 Benign · 4 Likely benign · 50 Uncertain significance
Full AZIN2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 52
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 24
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- AZIN2 p.Arg419Leu Uncertain significance Single submitter
- AZIN2 p.Asn72Lys Uncertain significance Single submitter
- AZIN2 p.Asp430Asn Uncertain significance Single submitter
- AZIN2 p.Gln301Pro Uncertain significance Single submitter
- AZIN2 p.Gln427Arg Uncertain significance Single submitter
- AZIN2 p.Glu139Lys Uncertain significance Single submitter
- AZIN2 p.Gly363Ser Uncertain significance Single submitter
- AZIN2 p.Gly451Asp Uncertain significance Single submitter
- AZIN2 p.His377Tyr Uncertain significance Single submitter
- AZIN2 p.Ile340Leu Uncertain significance Single submitter
- AZIN2 p.Ile340Thr Uncertain significance Single submitter
- AZIN2 p.Lys79Asn Uncertain significance Single submitter
- AZIN2 p.Met230Ile Uncertain significance Single submitter
- AZIN2 p.Met460Thr Uncertain significance Single submitter
- AZIN2 p.Phe398Ile Uncertain significance Single submitter
- AZIN2 p.Pro345Gln Uncertain significance Single submitter
- AZIN2 p.Pro397Arg Uncertain significance Single submitter
- AZIN2 p.Thr347Met Uncertain significance Single submitter
- AZIN2 p.Tyr280Asn Uncertain significance Single submitter
- AZIN2 p.Val173Gly Uncertain significance Single submitter
- AZIN2 p.Val316Met Uncertain significance Single submitter
- AZIN2 p.Val367Leu Uncertain significance Single submitter
- AZIN2 p.Val431Met Uncertain significance Single submitter
- AZIN2 p.Val450Met Uncertain significance Single submitter
Predictors split 28
The independent predictors disagree with each other — read with care.
- AZIN2 p.Ala112Thr Uncertain significance Single submitter
- AZIN2 p.Arg217Gln Uncertain significance Single submitter
- AZIN2 p.Arg217Trp Uncertain significance Single submitter
- AZIN2 p.Arg412Trp Uncertain significance Single submitter
- AZIN2 p.Arg64Pro Uncertain significance Single submitter
- AZIN2 p.Asn72Ser Uncertain significance Single submitter
- AZIN2 p.Asp234Glu Uncertain significance Single submitter
- AZIN2 p.Asp261Gly Uncertain significance Single submitter
- AZIN2 p.Gly241Val Uncertain significance Single submitter
- AZIN2 p.Gly267Arg Uncertain significance Single submitter
- AZIN2 p.Gly358Ala Uncertain significance Single submitter
- AZIN2 p.His127Leu Uncertain significance Single submitter
- AZIN2 p.His147Tyr Uncertain significance Single submitter
- AZIN2 p.Ile156Thr Uncertain significance Single submitter
- AZIN2 p.Ile213Val Uncertain significance Single submitter
- AZIN2 p.Leu351Pro Uncertain significance Single submitter
- AZIN2 p.Met222Thr Uncertain significance Single submitter
- AZIN2 p.Pro148Ser Benign Single submitter
- AZIN2 p.Pro359Thr Uncertain significance Single submitter
- AZIN2 p.Pro374Leu Uncertain significance Single submitter
- AZIN2 p.Ser168Asn Uncertain significance Single submitter
- AZIN2 p.Ser283Leu Uncertain significance Single submitter
- AZIN2 p.Ser31Pro Uncertain significance Single submitter
- AZIN2 p.Thr314Ile Uncertain significance Single submitter
- AZIN2 p.Thr391Ala Uncertain significance Single submitter
- AZIN2 p.Val193Ala Uncertain significance Single submitter
- AZIN2 p.Val281Met Uncertain significance Single submitter
-
AZIN2 p.Ala124Ser
Likely benign
No assertion criteria
EBV-positive nodal T- and NK-cell lymphoma
All AZIN2 variants
Benign 3
- p.His188Asn Multiple submitters
- p.Pro148Ser Single submitter ⚠
- p.Ser254= Single submitter
Likely benign 4
- p.Arg64Gln Single submitter
- p.Met394Thr Single submitter
- p.Phe398Leu Single submitter
- p.Ala124Ser No assertion criteria EBV-positive nodal T- and NK-cell lymphoma ⚠
Uncertain significance 50
- p.Ala112Thr Single submitter ⚠
- p.Arg217Gln Single submitter ⚠
- p.Arg217Trp Single submitter ⚠
- p.Arg412Trp Single submitter ⚠
- p.Arg419Leu Single submitter ⚠
- p.Arg64Pro Single submitter ⚠
- p.Asn72Lys Single submitter ⚠
- p.Asn72Ser Single submitter ⚠
- p.Asp234Glu Single submitter ⚠
- p.Asp261Gly Single submitter ⚠
- p.Asp430Asn Single submitter ⚠
- p.Gln301Pro Single submitter ⚠
- p.Gln427Arg Single submitter ⚠
- p.Glu139Lys Single submitter ⚠
- p.Gly241Val Single submitter ⚠
- p.Gly267Arg Single submitter ⚠
- p.Gly358Ala Single submitter ⚠
- p.Gly363Ser Single submitter ⚠
- p.Gly451Asp Single submitter ⚠
- p.His127Leu Single submitter ⚠
- p.His147Tyr Single submitter ⚠
- p.His377Tyr Single submitter ⚠
- p.Ile156Thr Single submitter ⚠
- p.Ile213Val Single submitter ⚠
- p.Ile340Leu Single submitter ⚠
- p.Ile340Thr Single submitter ⚠
- p.Leu351Pro Single submitter ⚠
- p.Lys79Asn Single submitter ⚠
- p.Met222Thr Single submitter ⚠
- p.Met230Ile Single submitter ⚠
- p.Met460Thr Single submitter ⚠
- p.Phe398Ile Single submitter ⚠
- p.Pro345Gln Single submitter ⚠
- p.Pro359Thr Single submitter ⚠
- p.Pro374Leu Single submitter ⚠
- p.Pro397Arg Single submitter ⚠
- p.Ser168Asn Single submitter ⚠
- p.Ser283Leu Single submitter ⚠
- p.Ser31Pro Single submitter ⚠
- p.Thr314Ile Single submitter ⚠
- p.Thr347Met Single submitter ⚠
- p.Thr391Ala Single submitter ⚠
- p.Tyr280Asn Single submitter ⚠
- p.Val173Gly Single submitter ⚠
- p.Val193Ala Single submitter ⚠
- p.Val281Met Single submitter ⚠
- p.Val316Met Single submitter ⚠
- p.Val367Leu Single submitter ⚠
- p.Val431Met Single submitter ⚠
- p.Val450Met Single submitter ⚠