MACROD1 — 54 ClinVar variants
All ClinVar germline MACROD1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 51 flagged for review →
3 Likely benign · 51 Uncertain significance
Full MACROD1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 51
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 40
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- MACROD1 p.Ala132Val Uncertain significance Single submitter
- MACROD1 p.Ala16Val Uncertain significance Single submitter
- MACROD1 p.Ala263Val Uncertain significance Single submitter
- MACROD1 p.Ala280Val Uncertain significance Single submitter
- MACROD1 p.Ala325Val Uncertain significance Single submitter
- MACROD1 p.Ala85Thr Uncertain significance Single submitter
- MACROD1 p.Arg110Gln Uncertain significance Single submitter
- MACROD1 p.Arg315Trp Uncertain significance Single submitter
- MACROD1 p.Arg317Trp Uncertain significance Single submitter
- MACROD1 p.Arg36Thr Uncertain significance Single submitter
- MACROD1 p.Arg6Gln Uncertain significance Single submitter
- MACROD1 p.Asp107Tyr Uncertain significance Single submitter
- MACROD1 p.Asp118Asn Uncertain significance Single submitter
- MACROD1 p.Asp160Asn Uncertain significance Single submitter
- MACROD1 p.Asp94Asn Uncertain significance Single submitter
- MACROD1 p.Asp94Tyr Uncertain significance Single submitter
- MACROD1 p.Cys266Phe Uncertain significance Single submitter
- MACROD1 p.Cys276Ser Uncertain significance Single submitter
- MACROD1 p.Gln4Lys Uncertain significance Single submitter
- MACROD1 p.Glu198Asp Uncertain significance Single submitter
- MACROD1 p.Gly185Asp Uncertain significance Single submitter
- MACROD1 p.Gly185Ser Uncertain significance Single submitter
- MACROD1 p.Gly43Arg Uncertain significance Single submitter
- MACROD1 p.His225Tyr Uncertain significance Single submitter
- MACROD1 p.His320Asp Uncertain significance Single submitter
- MACROD1 p.Ile125Val Uncertain significance Single submitter
- MACROD1 p.Ile303Val Uncertain significance Single submitter
- MACROD1 p.Leu14Met Uncertain significance Single submitter
- MACROD1 p.Leu156Val Uncertain significance Single submitter
- MACROD1 p.Leu255Arg Uncertain significance Single submitter
- MACROD1 p.Leu284Pro Uncertain significance Single submitter
- MACROD1 p.Pro45Leu Uncertain significance Single submitter
- MACROD1 p.Ser261Leu Uncertain significance Single submitter
- MACROD1 p.Ser8Ala Uncertain significance Single submitter
- MACROD1 p.Thr77Asn Uncertain significance Single submitter
- MACROD1 p.Trp290Arg Uncertain significance Single submitter
- MACROD1 p.Tyr247Ser Uncertain significance Single submitter
- MACROD1 p.Val50Leu Uncertain significance Single submitter
- MACROD1 p.Val61Gly Uncertain significance Single submitter
- MACROD1 p.Val75Leu Uncertain significance Single submitter
Predictors split 11
The independent predictors disagree with each other — read with care.
- MACROD1 p.Arg260Cys Uncertain significance Single submitter
- MACROD1 p.Glu311Lys Uncertain significance Single submitter
- MACROD1 p.Gly179Arg Uncertain significance Single submitter
- MACROD1 p.Leu156Met Uncertain significance Single submitter
- MACROD1 p.Phe272Val Uncertain significance Single submitter
- MACROD1 p.Pro319Leu Uncertain significance Single submitter
- MACROD1 p.Pro323Ser Uncertain significance Single submitter
- MACROD1 p.Ser245Asn Uncertain significance Single submitter
- MACROD1 p.Val120Asp Uncertain significance Single submitter
- MACROD1 p.Val283Met Uncertain significance Single submitter
- MACROD1 p.Val298Gly Uncertain significance Single submitter
All MACROD1 variants
Likely benign 3
- p.Gly49= Single submitter
- p.His320= Single submitter
- p.Ile282Val Single submitter
Uncertain significance 51
- p.Ala132Val Single submitter ⚠
- p.Ala16Val Single submitter ⚠
- p.Ala263Val Single submitter ⚠
- p.Ala280Val Single submitter ⚠
- p.Ala325Val Single submitter ⚠
- p.Ala85Thr Single submitter ⚠
- p.Arg110Gln Single submitter ⚠
- p.Arg260Cys Single submitter ⚠
- p.Arg315Trp Single submitter ⚠
- p.Arg317Trp Single submitter ⚠
- p.Arg36Thr Single submitter ⚠
- p.Arg6Gln Single submitter ⚠
- p.Asp107Tyr Single submitter ⚠
- p.Asp118Asn Single submitter ⚠
- p.Asp160Asn Single submitter ⚠
- p.Asp94Asn Single submitter ⚠
- p.Asp94Tyr Single submitter ⚠
- p.Cys266Phe Single submitter ⚠
- p.Cys276Ser Single submitter ⚠
- p.Gln4Lys Single submitter ⚠
- p.Glu198Asp Single submitter ⚠
- p.Glu311Lys Single submitter ⚠
- p.Gly179Arg Single submitter ⚠
- p.Gly185Asp Single submitter ⚠
- p.Gly185Ser Single submitter ⚠
- p.Gly43Arg Single submitter ⚠
- p.His225Tyr Single submitter ⚠
- p.His320Asp Single submitter ⚠
- p.Ile125Val Single submitter ⚠
- p.Ile303Val Single submitter ⚠
- p.Leu14Met Single submitter ⚠
- p.Leu156Met Single submitter ⚠
- p.Leu156Val Single submitter ⚠
- p.Leu255Arg Single submitter ⚠
- p.Leu284Pro Single submitter ⚠
- p.Phe272Val Single submitter ⚠
- p.Pro319Leu Single submitter ⚠
- p.Pro323Ser Single submitter ⚠
- p.Pro45Leu Single submitter ⚠
- p.Ser245Asn Single submitter ⚠
- p.Ser261Leu Single submitter ⚠
- p.Ser8Ala Single submitter ⚠
- p.Thr77Asn Single submitter ⚠
- p.Trp290Arg Single submitter ⚠
- p.Tyr247Ser Single submitter ⚠
- p.Val120Asp Single submitter ⚠
- p.Val283Met Single submitter ⚠
- p.Val298Gly Single submitter ⚠
- p.Val50Leu Single submitter ⚠
- p.Val61Gly Single submitter ⚠
- p.Val75Leu Single submitter ⚠