MEF2D — 33 ClinVar variants
All ClinVar germline MEF2D variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 31 flagged for review →
33 Uncertain significance
Full MEF2D gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 31
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 28
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
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MEF2D p.Ala200Pro
Uncertain significance
Single submitter
MEF2D-related disorder
- MEF2D p.Ala452Val Uncertain significance Single submitter
- MEF2D p.Arg24Gln Uncertain significance Single submitter
- MEF2D p.Arg487Gln Uncertain significance Single submitter
- MEF2D p.Arg487Trp Uncertain significance Single submitter
- MEF2D p.Asn241Asp Uncertain significance Single submitter
- MEF2D p.Asn52Lys Uncertain significance Single submitter
- MEF2D p.Gln182Lys Uncertain significance Single submitter
- MEF2D p.Gln183His Uncertain significance Single submitter
- MEF2D p.Gln393Pro Uncertain significance Single submitter
- MEF2D p.Glu506Ala Uncertain significance Single submitter
- MEF2D p.Gly194Ser Uncertain significance Single submitter
- MEF2D p.Gly418Ala Uncertain significance Single submitter
- MEF2D p.Gly475Arg Uncertain significance Single submitter
- MEF2D p.Gly491Arg Uncertain significance Single submitter
- MEF2D p.His406Gln Uncertain significance Single submitter
- MEF2D p.Ile436Met Uncertain significance Single submitter
- MEF2D p.Pro254Leu Uncertain significance Single submitter
- MEF2D p.Pro330Ser Uncertain significance Single submitter
- MEF2D p.Pro466Leu Uncertain significance Single submitter
- MEF2D p.Pro499Arg Uncertain significance Single submitter
- MEF2D p.Ser219Thr Uncertain significance Single submitter
- MEF2D p.Ser231Ala Uncertain significance Single submitter
- MEF2D p.Ser265Ile Uncertain significance Single submitter
- MEF2D p.Thr259Ser Uncertain significance Single submitter
- MEF2D p.Thr340Ser Uncertain significance Single submitter
- MEF2D p.Val221Ile Uncertain significance Single submitter
- MEF2D p.Val226Leu Uncertain significance Single submitter
Predictors split 3
The independent predictors disagree with each other — read with care.
All MEF2D variants
Uncertain significance 33
- p.Ala200Pro Single submitter MEF2D-related disorder ⚠
- p.Ala452Val Single submitter ⚠
- p.Arg24Gln Single submitter ⚠
- p.Arg487Gln Single submitter ⚠
- p.Arg487Trp Single submitter ⚠
- p.Asn241Asp Single submitter ⚠
- p.Asn52Lys Single submitter ⚠
- p.Asp97Asn Single submitter ⚠
- p.Gln182Lys Single submitter ⚠
- p.Gln183His Single submitter ⚠
- p.Gln393Pro Single submitter ⚠
- p.Glu506Ala Single submitter ⚠
- p.Gly132Arg Single submitter ⚠
- p.Gly194Ser Single submitter ⚠
- p.Gly203Glu Single submitter ⚠
- p.Gly418Ala Single submitter ⚠
- p.Gly475Arg Single submitter ⚠
- p.Gly491Arg Single submitter ⚠
- p.His406Gln Single submitter ⚠
- p.Ile436Met Single submitter ⚠
- p.Leu412fs Single submitter
- p.Pro254Leu Single submitter ⚠
- p.Pro330Ser Single submitter ⚠
- p.Pro466Leu Single submitter ⚠
- p.Pro499Arg Single submitter ⚠
- p.Ser219Thr Single submitter ⚠
- p.Ser231Ala Single submitter ⚠
- p.Ser265Ile Single submitter ⚠
- p.Thr259Ser Single submitter ⚠
- p.Thr331Asn Single submitter
- p.Thr340Ser Single submitter ⚠
- p.Val221Ile Single submitter ⚠
- p.Val226Leu Single submitter ⚠