MAZ — 83 ClinVar variants
All ClinVar germline MAZ variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 61 flagged for review →
5 Likely benign · 78 Uncertain significance
Full MAZ gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 61
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 55
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- MAZ p.Ala101Val Uncertain significance Single submitter
- MAZ p.Ala105Val Uncertain significance Single submitter
- MAZ p.Ala110Thr Uncertain significance Single submitter
- MAZ p.Ala117Val Uncertain significance Single submitter
- MAZ p.Ala125Glu Uncertain significance Single submitter
- MAZ p.Ala126Ser Uncertain significance Single submitter
- MAZ p.Ala147Val Uncertain significance Single submitter
- MAZ p.Ala148Ser Uncertain significance Single submitter
- MAZ p.Ala148Thr Uncertain significance Single submitter
- MAZ p.Ala148Val Uncertain significance Single submitter
- MAZ p.Ala151Val Uncertain significance Single submitter
- MAZ p.Ala153Asp Uncertain significance Single submitter
- MAZ p.Ala159Val Uncertain significance Single submitter
- MAZ p.Ala160Ser Uncertain significance Single submitter
- MAZ p.Ala166Gly Uncertain significance Single submitter
- MAZ p.Ala166Thr Uncertain significance Single submitter
- MAZ p.Ala166Val Uncertain significance Single submitter
- MAZ p.Ala174Ser Uncertain significance Single submitter
- MAZ p.Ala177Val Uncertain significance Single submitter
- MAZ p.Ala179Gly Uncertain significance Single submitter
- MAZ p.Ala179Pro Uncertain significance Single submitter
- MAZ p.Ala179Thr Uncertain significance Single submitter
- MAZ p.Ala59Thr Uncertain significance Single submitter
- MAZ p.Ala66Val Uncertain significance Single submitter
- MAZ p.Ala92Thr Uncertain significance Single submitter
- MAZ p.Ala96Thr Uncertain significance Single submitter
- MAZ p.Arg22Gln Uncertain significance Single submitter
- MAZ p.Gln415Glu Uncertain significance Single submitter
- MAZ p.Glu146Asp Uncertain significance Single submitter
- MAZ p.Glu146Lys Uncertain significance Single submitter
- MAZ p.Glu79Gln Uncertain significance Single submitter
- MAZ p.Leu10Val Uncertain significance Single submitter
- MAZ p.Leu180Ser Uncertain significance Single submitter
- MAZ p.Leu180Val Uncertain significance Single submitter
- MAZ p.Lys370Gln Uncertain significance Single submitter
- MAZ p.Pro116Ser Uncertain significance Single submitter
- MAZ p.Pro12Ser Uncertain significance Single submitter
- MAZ p.Pro12Thr Uncertain significance Single submitter
- MAZ p.Pro130Leu Uncertain significance Single submitter
- MAZ p.Pro131Thr Uncertain significance Single submitter
- MAZ p.Pro13Arg Uncertain significance Single submitter
- MAZ p.Pro13His Uncertain significance Single submitter
- MAZ p.Pro32Ser Uncertain significance Single submitter
- MAZ p.Pro34Ser Uncertain significance Single submitter
- MAZ p.Pro417Ser Uncertain significance Single submitter
- MAZ p.Pro41Ser Uncertain significance Single submitter
- MAZ p.Pro80Ala Uncertain significance Single submitter
- MAZ p.Ser120Ala Uncertain significance Single submitter
- MAZ p.Ser178Ala Uncertain significance Single submitter
- MAZ p.Ser178Cys Uncertain significance Single submitter
- MAZ p.Ser95Ala Uncertain significance Single submitter
- MAZ p.Thr162Pro Uncertain significance Single submitter
- MAZ p.Thr168Ile Uncertain significance Single submitter
- MAZ p.Val4Leu Uncertain significance Single submitter
- MAZ p.Val83Gly Uncertain significance Single submitter
Predictors split 6
The independent predictors disagree with each other — read with care.
- MAZ p.Ala102Thr Uncertain significance Single submitter
- MAZ p.Pro135Leu Uncertain significance Single submitter
- MAZ p.Pro137Thr Uncertain significance Single submitter
- MAZ p.Pro175Arg Uncertain significance Single submitter
- MAZ p.Ser61Arg Uncertain significance Single submitter
- MAZ p.Val392Met Uncertain significance Single submitter
All MAZ variants
Likely benign 5
- c.1108-5_1108-3del Single submitter
- p.Ala445= Single submitter
- p.Ala446_Ala448del Single submitter
- p.Thr162= Single submitter
- p.Val176= Single submitter
Uncertain significance 78
- c.1279+1G>A Single submitter
- c.1280-347G>C Single submitter
- c.1280-351C>T Single submitter
- c.1280-353G>C Single submitter
- c.1280-357C>T Single submitter
- c.1280-376C>T Single submitter
- c.1280-385G>A Single submitter
- c.1280-420A>G Single submitter
- c.1280-423C>T Single submitter
- c.1280-426C>T Single submitter
- c.1280-456G>A Single submitter
- c.1280-465G>A Single submitter
- c.1280-474G>A Single submitter
- c.1280-514C>T Single submitter
- c.1280-526G>T Single submitter
- c.1280-528C>A Single submitter
- p.Ala101Val Single submitter ⚠
- p.Ala102Thr Single submitter ⚠
- p.Ala105Val Single submitter ⚠
- p.Ala110Thr Single submitter ⚠
- p.Ala117Val Single submitter ⚠
- p.Ala125Glu Single submitter ⚠
- p.Ala126Ser Single submitter ⚠
- p.Ala147Val Single submitter ⚠
- p.Ala148Ser Single submitter ⚠
- p.Ala148Thr Single submitter ⚠
- p.Ala148Val Single submitter ⚠
- p.Ala151Val Single submitter ⚠
- p.Ala153Asp Single submitter ⚠
- p.Ala159Val Single submitter ⚠
- p.Ala160Ser Single submitter ⚠
- p.Ala166Gly Single submitter ⚠
- p.Ala166Thr Single submitter ⚠
- p.Ala166Val Single submitter ⚠
- p.Ala174Ser Single submitter ⚠
- p.Ala177Val Single submitter ⚠
- p.Ala179Gly Single submitter ⚠
- p.Ala179Pro Single submitter ⚠
- p.Ala179Thr Single submitter ⚠
- p.Ala59Thr Single submitter ⚠
- p.Ala66Val Single submitter ⚠
- p.Ala92Thr Single submitter ⚠
- p.Ala96Thr Single submitter ⚠
- p.Arg22Gln Single submitter ⚠
- p.Gln415Glu Single submitter ⚠
- p.Glu146Asp Single submitter ⚠
- p.Glu146Lys Single submitter ⚠
- p.Glu79Gln Single submitter ⚠
- p.Leu10Val Single submitter ⚠
- p.Leu180Ser Single submitter ⚠
- p.Leu180Val Single submitter ⚠
- p.Lys370Gln Single submitter ⚠
- p.Met1Val Single submitter
- p.Pro116Ser Single submitter ⚠
- p.Pro12Ser Single submitter ⚠
- p.Pro12Thr Single submitter ⚠
- p.Pro130Leu Single submitter ⚠
- p.Pro131Thr Single submitter ⚠
- p.Pro135Leu Single submitter ⚠
- p.Pro137Thr Single submitter ⚠
- p.Pro13Arg Single submitter ⚠
- p.Pro13His Single submitter ⚠
- p.Pro175Arg Single submitter ⚠
- p.Pro32Ser Single submitter ⚠
- p.Pro34Ser Single submitter ⚠
- p.Pro417Ser Single submitter ⚠
- p.Pro41Ser Single submitter ⚠
- p.Pro80Ala Single submitter ⚠
- p.Ser120Ala Single submitter ⚠
- p.Ser178Ala Single submitter ⚠
- p.Ser178Cys Single submitter ⚠
- p.Ser61Arg Single submitter ⚠
- p.Ser95Ala Single submitter ⚠
- p.Thr162Pro Single submitter ⚠
- p.Thr168Ile Single submitter ⚠
- p.Val392Met Single submitter ⚠
- p.Val4Leu Single submitter ⚠
- p.Val83Gly Single submitter ⚠