MACO1 — 49 ClinVar variants
All ClinVar germline MACO1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 47 flagged for review →
1 Likely benign · 48 Uncertain significance
Full MACO1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 47
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 39
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- MACO1 p.Ala382Thr Uncertain significance Single submitter
- MACO1 p.Ala39Gly Uncertain significance Single submitter
- MACO1 p.Ala84Thr Uncertain significance Single submitter
- MACO1 p.Arg139Lys Uncertain significance Single submitter
- MACO1 p.Arg429Gln Uncertain significance Single submitter
- MACO1 p.Arg542Gly Uncertain significance Single submitter
- MACO1 p.Asn234Ser Uncertain significance Single submitter
- MACO1 p.Asn330Ser Uncertain significance Single submitter
- MACO1 p.Asn655Ser Uncertain significance Single submitter
- MACO1 p.Asp523Asn Uncertain significance Single submitter
- MACO1 p.Asp529Glu Uncertain significance Single submitter
- MACO1 p.Gln211His Uncertain significance Single submitter
- MACO1 p.Glu535Asp Uncertain significance Single submitter
- MACO1 p.Gly327Val Uncertain significance Single submitter
- MACO1 p.His292Arg Uncertain significance Single submitter
- MACO1 p.Ile138Val Uncertain significance Single submitter
- MACO1 p.Ile97Leu Uncertain significance Single submitter
- MACO1 p.Leu414Val Uncertain significance Single submitter
- MACO1 p.Leu520Phe Uncertain significance Single submitter
- MACO1 p.Lys210Gln Uncertain significance Single submitter
- MACO1 p.Lys261Glu Uncertain significance Single submitter
- MACO1 p.Lys518Arg Uncertain significance Single submitter
- MACO1 p.Lys643Arg Uncertain significance Single submitter
- MACO1 p.Met194Val Uncertain significance Single submitter
- MACO1 p.Met475Ile Uncertain significance Single submitter
- MACO1 p.Met522Thr Uncertain significance Single submitter
- MACO1 p.Pro223Ser Uncertain significance Single submitter
- MACO1 p.Pro278Leu Uncertain significance Single submitter
- MACO1 p.Ser326Thr Uncertain significance Single submitter
- MACO1 p.Ser348Gly Uncertain significance Single submitter
- MACO1 p.Ser409Cys Uncertain significance Single submitter
- MACO1 p.Ser412Asn Uncertain significance Single submitter
- MACO1 p.Ser415Leu Uncertain significance Single submitter
- MACO1 p.Ser454Asn Uncertain significance Single submitter
- MACO1 p.Thr316Ala Uncertain significance Single submitter
- MACO1 p.Thr521Lys Uncertain significance Single submitter
- MACO1 p.Thr551Ala Uncertain significance Single submitter
- MACO1 p.Trp56Arg Uncertain significance Single submitter
- MACO1 p.Val658Ile Uncertain significance Single submitter
Predictors split 8
The independent predictors disagree with each other — read with care.
- MACO1 p.Ala493Gly Uncertain significance Single submitter
- MACO1 p.Ala589Thr Uncertain significance Single submitter
- MACO1 p.Arg385Gly Uncertain significance Single submitter
- MACO1 p.Arg385Ser Uncertain significance Single submitter
- MACO1 p.Phe101Cys Uncertain significance Single submitter
- MACO1 p.Pro654Leu Uncertain significance Single submitter
- MACO1 p.Val125Met Uncertain significance Single submitter
- MACO1 p.Val174Leu Uncertain significance Single submitter
All MACO1 variants
Likely benign 1
- p.Thr363Ala Single submitter
Uncertain significance 48
- p.Ala382Thr Single submitter ⚠
- p.Ala39Gly Single submitter ⚠
- p.Ala493Gly Single submitter ⚠
- p.Ala589Thr Single submitter ⚠
- p.Ala84Thr Single submitter ⚠
- p.Arg139Lys Single submitter ⚠
- p.Arg385Gly Single submitter ⚠
- p.Arg385Ser Single submitter ⚠
- p.Arg429Gln Single submitter ⚠
- p.Arg542Gly Single submitter ⚠
- p.Asn234Ser Single submitter ⚠
- p.Asn330Ser Single submitter ⚠
- p.Asn655Ser Single submitter ⚠
- p.Asp449Glu Single submitter
- p.Asp523Asn Single submitter ⚠
- p.Asp529Glu Single submitter ⚠
- p.Gln211His Single submitter ⚠
- p.Glu535Asp Single submitter ⚠
- p.Gly327Val Single submitter ⚠
- p.His292Arg Single submitter ⚠
- p.Ile138Val Single submitter ⚠
- p.Ile97Leu Single submitter ⚠
- p.Leu414Val Single submitter ⚠
- p.Leu520Phe Single submitter ⚠
- p.Lys210Gln Single submitter ⚠
- p.Lys261Glu Single submitter ⚠
- p.Lys518Arg Single submitter ⚠
- p.Lys643Arg Single submitter ⚠
- p.Met194Val Single submitter ⚠
- p.Met475Ile Single submitter ⚠
- p.Met522Thr Single submitter ⚠
- p.Phe101Cys Single submitter ⚠
- p.Pro223Ser Single submitter ⚠
- p.Pro278Leu Single submitter ⚠
- p.Pro654Leu Single submitter ⚠
- p.Ser326Thr Single submitter ⚠
- p.Ser348Gly Single submitter ⚠
- p.Ser409Cys Single submitter ⚠
- p.Ser412Asn Single submitter ⚠
- p.Ser415Leu Single submitter ⚠
- p.Ser454Asn Single submitter ⚠
- p.Thr316Ala Single submitter ⚠
- p.Thr521Lys Single submitter ⚠
- p.Thr551Ala Single submitter ⚠
- p.Trp56Arg Single submitter ⚠
- p.Val125Met Single submitter ⚠
- p.Val174Leu Single submitter ⚠
- p.Val658Ile Single submitter ⚠