AMZ2 — 73 ClinVar variants
All ClinVar germline AMZ2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 63 flagged for review →
4 Benign · 7 Likely benign · 62 Uncertain significance
Full AMZ2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 63
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 37
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- AMZ2 p.Ala269Val Uncertain significance Single submitter
- AMZ2 p.Arg101Lys Uncertain significance Single submitter
- AMZ2 p.Arg247Gln Uncertain significance Single submitter
- AMZ2 p.Arg263Gln Uncertain significance Single submitter
- AMZ2 p.Arg284Pro Uncertain significance Single submitter
- AMZ2 p.Asn19Asp Uncertain significance Single submitter
- AMZ2 p.Asp317Gly Uncertain significance Single submitter
- AMZ2 p.Glu306Asp Uncertain significance Single submitter
- AMZ2 p.Glu346Asp Uncertain significance Single submitter
- AMZ2 p.Glu349Asp Uncertain significance Single submitter
- AMZ2 p.Glu349Lys Uncertain significance Single submitter
- AMZ2 p.Glu39Gly Uncertain significance Single submitter
- AMZ2 p.Glu8Lys Uncertain significance Single submitter
- AMZ2 p.Gly198Glu Uncertain significance Single submitter
- AMZ2 p.Gly32Glu Uncertain significance Single submitter
- AMZ2 p.His6Gln Uncertain significance Single submitter
- AMZ2 p.Ile237Val Uncertain significance Single submitter
- AMZ2 p.Ile256Met Uncertain significance Single submitter
- AMZ2 p.Ile3Val Uncertain significance Single submitter
- AMZ2 p.Leu22Phe Uncertain significance Single submitter
- AMZ2 p.Leu262Pro Uncertain significance Single submitter
- AMZ2 p.Leu29Ser Uncertain significance Single submitter
- AMZ2 p.Phe209Ser Uncertain significance Single submitter
- AMZ2 p.Pro323Ser Uncertain significance Single submitter
- AMZ2 p.Pro43Ser Uncertain significance Single submitter
- AMZ2 p.Ser88Gly Uncertain significance Single submitter
- AMZ2 p.Thr10Lys Uncertain significance Single submitter
- AMZ2 p.Thr13Ala Uncertain significance Single submitter
- AMZ2 p.Thr174Ile Uncertain significance Single submitter
- AMZ2 p.Thr241Ile Uncertain significance Single submitter
- AMZ2 p.Thr322Ile Uncertain significance Single submitter
- AMZ2 p.Thr52Ile Uncertain significance Single submitter
- AMZ2 p.Tyr114Phe Uncertain significance Single submitter
- AMZ2 p.Tyr214Asn Uncertain significance Single submitter
- AMZ2 p.Tyr236Phe Uncertain significance Single submitter
- AMZ2 p.Val141Leu Uncertain significance Single submitter
-
AMZ2 p.Thr174Lys
Uncertain significance
No assertion criteria
Monoclonal B-Cell Lymphocytosis
Predictors split 26
The independent predictors disagree with each other — read with care.
- AMZ2 p.Ala117Thr Uncertain significance Single submitter
- AMZ2 p.Arg283Trp Uncertain significance Single submitter
- AMZ2 p.Arg35Cys Uncertain significance Single submitter
- AMZ2 p.Arg35His Uncertain significance Single submitter
- AMZ2 p.Arg5Trp Uncertain significance Single submitter
- AMZ2 p.Arg87Cys Uncertain significance Single submitter
- AMZ2 p.Arg87His Likely benign Single submitter
- AMZ2 p.Asp208Glu Uncertain significance Single submitter
- AMZ2 p.Glu306Gly Uncertain significance Single submitter
- AMZ2 p.Leu245Val Uncertain significance Single submitter
- AMZ2 p.Leu358Phe Uncertain significance Single submitter
- AMZ2 p.Lys109Ile Uncertain significance Single submitter
- AMZ2 p.Phe168Leu Uncertain significance Single submitter
- AMZ2 p.Phe41Ser Uncertain significance Single submitter
- AMZ2 p.Pro131Ala Uncertain significance Single submitter
- AMZ2 p.Pro285Ser Uncertain significance Single submitter
- AMZ2 p.Pro84Leu Uncertain significance Single submitter
- AMZ2 p.Ser104Gly Uncertain significance Single submitter
- AMZ2 p.Ser133Phe Uncertain significance Single submitter
- AMZ2 p.Ser211Arg Uncertain significance Single submitter
- AMZ2 p.Ser55Phe Uncertain significance Single submitter
- AMZ2 p.Ser55Pro Uncertain significance Single submitter
- AMZ2 p.Thr13Ile Uncertain significance Single submitter
- AMZ2 p.Val171Leu Uncertain significance Single submitter
- AMZ2 p.Val171Met Uncertain significance Single submitter
- AMZ2 p.Val357Gly Uncertain significance Single submitter
All AMZ2 variants
Benign 4
- p.Ala356= No assertion criteria AMZ2-related disorder
- p.Asn30Asp No assertion criteria AMZ2-related disorder
- p.Gly198= No assertion criteria AMZ2-related disorder
- p.His331Arg No assertion criteria AMZ2-related disorder
Likely benign 7
- p.Arg313fs Single submitter
- p.Arg87His Single submitter ⚠
- p.Ile304Thr Single submitter
- p.Thr112= Single submitter
- c.586+8G>A No assertion criteria AMZ2-related disorder
- p.Gly153= No assertion criteria AMZ2-related disorder
- p.Ile256= No assertion criteria AMZ2-related disorder
Uncertain significance 62
- p.Ala117Thr Single submitter ⚠
- p.Ala269Val Single submitter ⚠
- p.Arg101Lys Single submitter ⚠
- p.Arg247Gln Single submitter ⚠
- p.Arg263Gln Single submitter ⚠
- p.Arg283Trp Single submitter ⚠
- p.Arg284Pro Single submitter ⚠
- p.Arg35Cys Single submitter ⚠
- p.Arg35His Single submitter ⚠
- p.Arg5Trp Single submitter ⚠
- p.Arg87Cys Single submitter ⚠
- p.Asn19Asp Single submitter ⚠
- p.Asp208Glu Single submitter ⚠
- p.Asp317Gly Single submitter ⚠
- p.Glu306Asp Single submitter ⚠
- p.Glu306Gly Single submitter ⚠
- p.Glu346Asp Single submitter ⚠
- p.Glu349Asp Single submitter ⚠
- p.Glu349Lys Single submitter ⚠
- p.Glu39Gly Single submitter ⚠
- p.Glu8Lys Single submitter ⚠
- p.Gly198Glu Single submitter ⚠
- p.Gly32Glu Single submitter ⚠
- p.His6Gln Single submitter ⚠
- p.Ile237Val Single submitter ⚠
- p.Ile256Met Single submitter ⚠
- p.Ile3Val Single submitter ⚠
- p.Leu22Phe Single submitter ⚠
- p.Leu245Val Single submitter ⚠
- p.Leu262Pro Single submitter ⚠
- p.Leu29Ser Single submitter ⚠
- p.Leu358Phe Single submitter ⚠
- p.Lys109Ile Single submitter ⚠
- p.Phe168Leu Single submitter ⚠
- p.Phe209Ser Single submitter ⚠
- p.Phe41Ser Single submitter ⚠
- p.Pro131Ala Single submitter ⚠
- p.Pro285Ser Single submitter ⚠
- p.Pro323Ser Single submitter ⚠
- p.Pro43Ser Single submitter ⚠
- p.Pro84Leu Single submitter ⚠
- p.Ser104Gly Single submitter ⚠
- p.Ser133Phe Single submitter ⚠
- p.Ser211Arg Single submitter ⚠
- p.Ser55Phe Single submitter ⚠
- p.Ser55Pro Single submitter ⚠
- p.Ser88Gly Single submitter ⚠
- p.Thr10Lys Single submitter ⚠
- p.Thr13Ala Single submitter ⚠
- p.Thr13Ile Single submitter ⚠
- p.Thr174Ile Single submitter ⚠
- p.Thr241Ile Single submitter ⚠
- p.Thr322Ile Single submitter ⚠
- p.Thr52Ile Single submitter ⚠
- p.Tyr114Phe Single submitter ⚠
- p.Tyr214Asn Single submitter ⚠
- p.Tyr236Phe Single submitter ⚠
- p.Val141Leu Single submitter ⚠
- p.Val171Leu Single submitter ⚠
- p.Val171Met Single submitter ⚠
- p.Val357Gly Single submitter ⚠
- p.Thr174Lys No assertion criteria Monoclonal B-Cell Lymphocytosis ⚠