AMZ1 — 164 ClinVar variants

All ClinVar germline AMZ1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 140 flagged for review →

10 Benign · 16 Likely benign · 138 Uncertain significance

Full AMZ1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 140

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 91

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 49

The independent predictors disagree with each other — read with care.

All AMZ1 variants

Benign 10

c.602-11TC[3] Single submitter
p.Ala324= Single submitter
p.Ala346= Single submitter
p.Ala436Val Single submitter ⚠
p.Arg439Cys Single submitter
p.Cys246Ser Single submitter
p.Gly233Ser Single submitter
p.Gly380= Single submitter
p.Ser350= Single submitter
p.Ser488Leu Single submitter ⚠

Likely benign 16

p.Arg481Ter Multiple submitters
p.Pro394Leu Multiple submitters
p.Ala221Thr Single submitter
p.Ala401Val Single submitter
p.Arg128His Single submitter
p.Arg148Gln Single submitter
p.Arg241Gly Single submitter
p.Arg491Cys Single submitter
p.Arg61His Single submitter
p.Cys117Arg Single submitter
p.Pro169= Single submitter
p.Pro215Leu Single submitter
p.Pro344Leu Single submitter
p.Ser456Arg Single submitter
p.Val227Ala Single submitter
p.Val306Ile Single submitter

Uncertain significance 138

p.Ala122Pro Single submitter ⚠
p.Ala172Val Single submitter ⚠
p.Ala188Asp Single submitter ⚠
p.Ala208Ser Single submitter ⚠
p.Ala208Thr Single submitter ⚠
p.Ala230Val Single submitter ⚠
p.Ala236Ser Single submitter ⚠
p.Ala249Gly Single submitter ⚠
p.Ala282Val Single submitter ⚠
p.Ala288Pro Single submitter ⚠
p.Ala324Glu Single submitter ⚠
p.Ala334Val Single submitter ⚠
p.Ala35Ser Single submitter ⚠
p.Ala35Thr Single submitter ⚠
p.Ala378Val Single submitter ⚠
p.Ala403Thr Single submitter ⚠
p.Ala417Thr Single submitter ⚠
p.Ala47Ser Single submitter ⚠
p.Ala480Thr Single submitter ⚠
p.Ala480Val Single submitter ⚠
p.Ala486Val Single submitter ⚠
p.Ala7Ser Single submitter ⚠
p.Ala82Thr Single submitter ⚠
p.Arg141Gly Single submitter ⚠
p.Arg145Gln Single submitter ⚠
p.Arg148Trp Single submitter ⚠
p.Arg152Gly Single submitter ⚠
p.Arg152Met Single submitter ⚠
p.Arg152Ser Single submitter ⚠
p.Arg209Gln Single submitter ⚠
p.Arg209Trp Single submitter ⚠
p.Arg241Ser Single submitter ⚠
p.Arg291Gly Single submitter ⚠
p.Arg291Pro Single submitter ⚠
p.Arg291Trp Single submitter ⚠
p.Arg314Lys Single submitter ⚠
p.Arg409Pro Single submitter ⚠
p.Arg409Trp Single submitter ⚠
p.Arg41Gln Single submitter ⚠
p.Arg439His Single submitter ⚠
p.Arg451Lys Single submitter ⚠
p.Arg464Cys Single submitter ⚠
p.Arg464His Single submitter ⚠
p.Arg491Gly Single submitter ⚠
p.Arg61Cys Single submitter ⚠
p.Arg93Trp Single submitter ⚠
p.Asp19Glu Single submitter ⚠
p.Asp19Val Single submitter ⚠
p.Asp223His Single submitter ⚠
p.Asp286Glu Single submitter ⚠
p.Asp435Gly Single submitter ⚠
p.Asp469Tyr Single submitter ⚠
p.Asp65Glu Single submitter ⚠
p.Cys255Tyr Single submitter ⚠
p.Cys272Phe Single submitter ⚠
p.Gln332Arg Single submitter ⚠
p.Gln3Pro Single submitter ⚠
p.Gln452Glu Single submitter ⚠
p.Gln8Arg Single submitter ⚠
p.Glu105Lys Single submitter ⚠
p.Glu262Gly Single submitter ⚠
p.Glu262Lys Single submitter ⚠
p.Glu287Gln Single submitter ⚠
p.Glu313Lys Single submitter ⚠
p.Glu402Lys Single submitter ⚠
p.Glu40Lys Single submitter ⚠
p.Glu72Ala Single submitter ⚠
p.Gly109Arg Single submitter ⚠
p.Gly13Arg Single submitter ⚠
p.Gly268Ser Single submitter ⚠
p.Gly281Ser Single submitter ⚠
p.Gly361Ser Single submitter ⚠
p.Gly468Arg Single submitter ⚠
p.Gly495Val Single submitter ⚠
p.His186Arg Single submitter ⚠
p.His186Pro Single submitter ⚠
p.His86Gln Single submitter ⚠
p.Ile312Thr Single submitter ⚠
p.Ile415Thr Single submitter ⚠
p.Ile96Asn Single submitter ⚠
p.Leu113Met Single submitter ⚠
p.Leu155Phe Single submitter ⚠
p.Leu183Pro Single submitter ⚠
p.Leu197Ile Single submitter ⚠
p.Leu269Gln Single submitter ⚠
p.Leu303Arg Single submitter ⚠
p.Leu311Phe Single submitter ⚠
p.Leu388Arg Single submitter ⚠
p.Lys465Gln Single submitter ⚠
p.Lys477Asn Single submitter ⚠
p.Phe10Tyr Single submitter ⚠
p.Phe124Leu Single submitter ⚠
p.Phe12Leu Single submitter ⚠
p.Phe163Ser Single submitter ⚠
p.Phe55Leu Single submitter ⚠
p.Phe55Ser Single submitter ⚠
p.Pro100Leu Single submitter ⚠
p.Pro107Leu Single submitter ⚠
p.Pro133Leu Single submitter ⚠
p.Pro133Thr Single submitter ⚠
p.Pro219Ser Single submitter ⚠
p.Pro219Thr Single submitter ⚠
p.Pro234Leu Single submitter ⚠
p.Pro292Thr Single submitter ⚠
p.Pro337Arg Single submitter ⚠
p.Pro344Ala Single submitter ⚠
p.Pro344Ser Single submitter ⚠
p.Pro345Ser Single submitter ⚠
p.Pro394Thr Single submitter ⚠
p.Pro396Ser Single submitter ⚠
p.Pro448Ala Single submitter ⚠
p.Pro448Leu Single submitter ⚠
p.Pro492Thr Single submitter ⚠
p.Pro89His Single submitter ⚠
p.Ser134Leu Single submitter ⚠
p.Ser144Leu Single submitter ⚠
p.Ser162Thr Single submitter ⚠
p.Ser217Leu Single submitter ⚠
p.Ser220Arg Single submitter ⚠
p.Ser350Leu Single submitter ⚠
p.Ser350Trp Single submitter ⚠
p.Ser356Cys Single submitter ⚠
p.Ser358Leu Single submitter ⚠
p.Ser363Asn Single submitter ⚠
p.Ser365Leu Single submitter ⚠
p.Ser379Leu Single submitter ⚠
p.Ser391Leu Single submitter ⚠
p.Ser69Arg Single submitter ⚠
p.Thr259Ala Single submitter ⚠
p.Thr328Met Single submitter ⚠
p.Thr376Ile Single submitter ⚠
p.Trp189Cys Single submitter ⚠
p.Trp243Cys Single submitter ⚠
p.Trp321Arg Single submitter ⚠
p.Val108Met Single submitter ⚠
p.Val325Ala Single submitter ⚠
p.Val461Gly Single submitter ⚠
p.Val461Met Single submitter ⚠