MACROD2 — 57 ClinVar variants
All ClinVar germline MACROD2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 42 flagged for review →
5 Benign · 8 Likely benign · 44 Uncertain significance
Full MACROD2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 42
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 34
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- MACROD2 p.Ala128Thr Uncertain significance Single submitter
- MACROD2 p.Ala436Thr Uncertain significance Single submitter
- MACROD2 p.Ala440Thr Uncertain significance Single submitter
- MACROD2 p.Ala440Val Uncertain significance Single submitter
- MACROD2 p.Ala91Val Uncertain significance Single submitter
- MACROD2 p.Arg150Lys Uncertain significance Single submitter
- MACROD2 p.Arg218Trp Uncertain significance Single submitter
- MACROD2 p.Asn176Ser Uncertain significance Single submitter
- MACROD2 p.Asn358Asp Uncertain significance Single submitter
- MACROD2 p.Asn358Lys Uncertain significance Single submitter
- MACROD2 p.Asn38Lys Uncertain significance Single submitter
- MACROD2 p.Asp135Glu Uncertain significance Single submitter
- MACROD2 p.Asp244Asn Uncertain significance Single submitter
- MACROD2 p.Cys132Ser Uncertain significance Single submitter
- MACROD2 p.Glu248Val Uncertain significance Single submitter
- MACROD2 p.Glu360Lys Uncertain significance Single submitter
- MACROD2 p.Glu388Lys Uncertain significance Single submitter
- MACROD2 p.Glu398Lys Uncertain significance Single submitter
- MACROD2 p.Gly382Asp Uncertain significance Single submitter
- MACROD2 p.Gly382Ser Uncertain significance Single submitter
- MACROD2 p.Gly99Glu Uncertain significance Single submitter
- MACROD2 p.His214Arg Uncertain significance Single submitter
- MACROD2 p.Ile200Val Uncertain significance Single submitter
- MACROD2 p.Ile205Val Uncertain significance Single submitter
- MACROD2 p.Ile219Val Uncertain significance Single submitter
- MACROD2 p.Lys158Glu Uncertain significance Single submitter
- MACROD2 p.Met393Ile Uncertain significance Single submitter
- MACROD2 p.Met47Ile Uncertain significance Single submitter
- MACROD2 p.Phe229Tyr Uncertain significance Single submitter
- MACROD2 p.Pro368Ser Uncertain significance Single submitter
- MACROD2 p.Pro391Arg Uncertain significance Single submitter
- MACROD2 p.Ser356Pro Uncertain significance Single submitter
- MACROD2 p.Thr61Ala Uncertain significance Single submitter
- MACROD2 p.Trp43Arg Uncertain significance Single submitter
Predictors split 8
The independent predictors disagree with each other — read with care.
- MACROD2 p.Asp160Tyr Uncertain significance Single submitter
- MACROD2 p.Glu195Lys Uncertain significance Single submitter
- MACROD2 p.Gly151Asp Uncertain significance Single submitter
- MACROD2 p.His157Arg Uncertain significance Single submitter
- MACROD2 p.Ile35Phe Uncertain significance Single submitter
- MACROD2 p.Leu120Val Uncertain significance Single submitter
- MACROD2 p.Phe221Leu Uncertain significance Single submitter
- MACROD2 p.Val227Ala Uncertain significance Single submitter
All MACROD2 variants
Benign 5
- p.Glu388Val Multiple submitters
- c.1300+5G>T No assertion criteria MACROD2-related disorder
- p.Leu432Gln No assertion criteria MACROD2-related disorder
- p.Thr335Met No assertion criteria MACROD2-related disorder
- p.Thr58Ile No assertion criteria MACROD2-related disorder
Likely benign 8
- c.-6G>A Single submitter
- p.Asn237Ser Single submitter
- p.Gln437= Single submitter
- p.Ile153Val Single submitter
- p.Ser401Gly Single submitter
- c.1232-10C>T No assertion criteria MACROD2-related disorder
- c.1232-10del No assertion criteria MACROD2-related disorder
- p.Leu161= No assertion criteria MACROD2-related disorder
Uncertain significance 44
- p.Ala128Thr Single submitter ⚠
- p.Ala436Thr Single submitter ⚠
- p.Ala440Thr Single submitter ⚠
- p.Ala440Val Single submitter ⚠
- p.Ala91Val Single submitter ⚠
- p.Arg150Lys Single submitter ⚠
- p.Arg218Trp Single submitter ⚠
- p.Asn176Ser Single submitter ⚠
- p.Asn358Asp Single submitter ⚠
- p.Asn358Lys Single submitter ⚠
- p.Asn38Lys Single submitter ⚠
- p.Asp135Glu Single submitter ⚠
- p.Asp160Tyr Single submitter ⚠
- p.Asp244Asn Single submitter ⚠
- p.Cys132Ser Single submitter ⚠
- p.Glu195Lys Single submitter ⚠
- p.Glu248Val Single submitter ⚠
- p.Glu360Lys Single submitter ⚠
- p.Glu388Lys Single submitter ⚠
- p.Glu398Lys Single submitter ⚠
- p.Gly151Asp Single submitter ⚠
- p.Gly382Asp Single submitter ⚠
- p.Gly382Ser Single submitter ⚠
- p.Gly99Glu Single submitter ⚠
- p.His157Arg Single submitter ⚠
- p.His214Arg Single submitter ⚠
- p.Ile200Val Single submitter ⚠
- p.Ile205Val Single submitter ⚠
- p.Ile219Val Single submitter ⚠
- p.Ile35Phe Single submitter ⚠
- p.Leu120Val Single submitter ⚠
- p.Lys158Glu Single submitter ⚠
- p.Met393Ile Single submitter ⚠
- p.Met47Ile Single submitter ⚠
- p.Phe221Leu Single submitter ⚠
- p.Phe229Tyr Single submitter ⚠
- p.Pro368Ser Single submitter ⚠
- p.Pro391Arg Single submitter ⚠
- p.Ser356Pro Single submitter ⚠
- p.Ter449Arg Single submitter
- p.Thr204Ile Single submitter
- p.Thr61Ala Single submitter ⚠
- p.Trp43Arg Single submitter ⚠
- p.Val227Ala Single submitter ⚠