MEF2A — 62 ClinVar variants
All ClinVar germline MEF2A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more.
2 Pathogenic · 1 Conflicting · 13 Benign · 2 Benign/Likely benign · 8 Likely benign · 36 Uncertain significance
Full MEF2A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactionsAll MEF2A variants
Pathogenic 2
- p.Pro277Leu Single submitter coronary artery disease, autosomal dominant, 1
- p.Gly281Asp No assertion criteria Coronary artery disease/myocardial infarction
Conflicting classifications of pathogenicity 1
- p.Gln423_Gln428del Single submitter coronary artery disease, autosomal dominant, 1
Benign 13
- p.Gln427_Gln428dup Multiple submitters coronary artery disease, autosomal dominant, 1
- p.Pro433= Multiple submitters
- c.390+167G>A Single submitter
- p.Gln427_Gln428del Single submitter
- p.Gln438_Pro444del Single submitter
- p.Thr310= Single submitter
- c.611-8G>A No assertion criteria MEF2A-related disorder
- p.Asn295= No assertion criteria MEF2A-related disorder
- p.Gln297= No assertion criteria MEF2A-related disorder
- p.Gln424_Gln428del No assertion criteria MEF2A-related disorder
- p.Gly449= No assertion criteria MEF2A-related disorder
- p.Pro478= No assertion criteria MEF2A-related disorder
- p.Ser415= No assertion criteria MEF2A-related disorder
Benign/Likely benign 2
- p.Asn261Ser Multiple submitters
- p.Ile479Val Multiple submitters
Likely benign 8
- p.Arg3= Single submitter
- p.Gln428Pro Single submitter
- p.Pro331= Single submitter
- p.Pro430Gln Single submitter
- p.Pro433del Single submitter
- p.Ser358= Single submitter
- p.Val379= Single submitter
- p.Pro429Gln No assertion criteria MEF2A-related disorder
Uncertain significance 36
- c.610+2T>A Single submitter
- p.Ala502Thr Single submitter
- p.Arg409Trp Single submitter
- p.Arg411Cys Single submitter
- p.Arg497Gln Single submitter
- p.Asn188His Single submitter
- p.Asn216Ser Single submitter
- p.Gln136Arg Single submitter coronary artery disease, autosomal dominant, 1
- p.Gln306Glu Single submitter
- p.Gln367His Single submitter
- p.Gly241Asp Single submitter
- p.Gly371Ala Single submitter
- p.Gly416Asp Single submitter
- p.Lys401Glu Single submitter
- p.Pro135Ser Single submitter
- p.Pro430Leu Single submitter
- p.Pro431Gln Single submitter
- p.Pro433Ser Single submitter
- p.Pro439Ser Single submitter
- p.Ser208Asn Single submitter
- p.Ser221Asn Single submitter
- p.Ser353Leu Single submitter
- p.Ser376Asn Single submitter
- p.Ser391Thr Single submitter
- p.Ser50Thr Single submitter
- p.Ser78Gly Single submitter
- p.Thr143Pro Single submitter
- p.Thr171Met Single submitter
- p.Thr200Ile Single submitter
- p.Thr240Ala Single submitter
- p.Thr251Ser Single submitter
- p.Thr316Ile Single submitter
- p.Tyr33Phe Single submitter
- p.Val189Met Single submitter
- p.Val480Ala Single submitter
- p.Cys41_Glu42delinsTer No assertion criteria