MEF2C (Q06413) variants and mutations
MEF2C (also known as Q06413) is a human protein-coding gene encoding a myocyte-specific enhancer factor 2C protein. It regulates activity-dependent and developmental gene programs in neurons, muscle, immune cells, and the cardiovascular system. Haploinsufficiency causes MEF2C-related neurodevelopmental disorder, typically with severe speech impairment, intellectual disability, epilepsy, and stereotypic movements. This analysis covers 864 MEF2C variants and mutations. Of these, 65% have computational variant effect predictions. Disease context includes neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impa, 5q14.3 microdeletion syndrome, and autism spectrum disorder. Example MEF2C variants include M1?, M1I, and M1T.
Variant analysis overview
- Gene: MEF2C
- Protein: Q06413
- UniProt accession: Q06413
- Organism: Homo sapiens
- Variants analyzed: 864
- Variant scope: all variants
- Completed: 2026-08-22
Variant and mutation evidence
- Variant composition: 580 unspecified-consequence records; 1 stop retained variant; 90 synonymous variants; 170 missense variants; 10 frameshift variants; 7 stop-gained variants; 1 in-frame deletions; 3 splice-region variants; 4 substitution
- Prediction scores: 558 variants have prediction scores (65% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impa, 5q14.3 microdeletion syndrome, autism spectrum disorder, hereditary disease, Abnormality of the skeletal system, Intellectual disability, intelligence, neurodegenerative disease, hypertensive disorder, attention deficit-hyperactivity disorder, mathematical ability, neurodevelopmental disorder.
Protein structure and variant hotspots
- Protein features: 1 domains; 19 post-translational modification sites.
- Structural context: 89 variants have structural context.
- PTM context: 20 variants overlap post-translational modification sites.
Data sources
Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, 3D Hotspot Analysis, Interaction Network Analysis, AlphaFold DB, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.
Notable MEF2C variants
Examples include M1?, M1I, M1T, M1V, G2R, G2W, R3S, K4E. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1?, cosmic curated COSV60935, NCI-TCGA Cosmic COSV1004, cosmic curated COSV10042, Variant assessed as somatic; high impact.
- M1I (p.Met1Ile), rs1554150607, ClinGen CA315938, ClinVar RCV000678390, MetaLR 0.90, MetaSVM 1.00, Conflicting interpretations, Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impa
- M1T (p.Met1Thr), rs545185248, ClinGen CA205953, ClinVar RCV000192846, ClinVar RCV000254756, MetaLR 0.91, MetaSVM 1.05, Pathogenic/Likely pathogenic, not provided; Neurodevelopmental disorder with hypotonia, stereotypic hand movem
- M1V (p.Met1Val), rs1432291994, ClinGen CA360425369, ClinVar RCV000691389, MetaLR 0.89, MetaSVM 1.06, Conflicting interpretations, Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impa
- G2R (p.Gly2Arg), NCI-TCGA Cosmic COSV1004, cosmic curated COSV10042, NCI-TCGA Cosmic COSV6093, Uncertain significance, Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impa
- G2W (p.Gly2Trp), NCI-TCGA Cosmic COSV1004, NCI-TCGA Cosmic COSV6093, cosmic curated COSV60931, REVEL 0.84, CADD 27.70, Variant assessed as somatic; moderate impact.
- R3S (p.Arg3Ser), rs876661308, ClinGen CA10575830, ClinVar RCV000223956, Ensembl rs876661308, AlphaMissense 1.00, MetaLR 0.93, Pathogenic, Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impa
- K4E (p.Lys4Glu), cosmic curated COSV10610
- K5E (p.Lys5Glu), cosmic curated COSV60931
- K5N (p.Lys5Asn), rs2532815114, ClinGen CA360425337, ClinVar RCV002398673, ClinVar RCV006605381, Uncertain significance, Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impa
- K5T (p.Lys5Thr), cosmic curated COSV60926
- I6N (p.Ile6Asn), rs2153222922, ClinGen CA360425333, ClinVar RCV001533145, Ensembl rs2153222922, AlphaMissense 1.00, MetaLR 0.88, Likely pathogenic, Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impa
- I6S (p.Ile6Ser), rs2153222922, ClinGen CA360425331, ClinVar RCV003323052, AlphaMissense 1.00, MetaLR 0.88, Uncertain significance, not provided
- Q7* (p.Gln7Ter), rs2532814429, ClinGen CA360425327, ClinVar RCV003335912, Pathogenic
- Q7E (p.Gln7Glu), NCI-TCGA Cosmic COSV6093, cosmic curated COSV60935, Variant assessed as somatic; moderate impact.
- Q7H (p.Gln7His), rs1554150584, ClinGen CA360425322, ClinVar RCV000551180, Ensembl rs1554150584, AlphaMissense 0.98, MetaLR 0.73, Uncertain significance, Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impa
- Q7K (p.Gln7Lys), NCI-TCGA Cosmic COSV6093, cosmic curated COSV60935, Variant assessed as somatic; moderate impact.
- I8L (p.Ile8Leu), rs2532813819, ClinGen CA360425321, ClinVar RCV003149149, Likely pathogenic, Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impa
- I8S (p.Ile8Ser), ExAC rs767074467, gnomAD rs767074467
- T9K (p.Thr9Lys), NCI-TCGA Cosmic COSV6093, Variant assessed as somatic; moderate impact.
- T9M (p.Thr9Met), rs2153222916, ClinGen CA360425310, NCI-TCGA Cosmic COSV6093, cosmic curated COSV60930, AlphaMissense 0.74, MetaLR 0.48, Uncertain significance, Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impa
- R10K (p.Arg10Lys), cosmic curated COSV60924
- I11V (p.Ile11Val), Ensembl rs528434394, REVEL 0.79, CADD 25.40, Uncertain significance, Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impa
- M12I (p.Met12Ile), Ensembl rs1809604595
- M12V (p.Met12Val), rs965091526, ClinGen CA122618651, ClinVar RCV001296853, ClinVar RCV001785807, REVEL 0.45, CADD 19.10, Uncertain significance, not provided; Inborn genetic diseases; Neurodevelopmental disorder with hypotoni
- D13E (p.Asp13Glu), cosmic curated COSV10590
- D13N (p.Asp13Asn), cosmic curated COSV60930
- D13Y (p.Asp13Tyr), cosmic curated COSV60940
- E14A (p.Glu14Ala), cosmic curated COSV60940
- E14K (p.Glu14Lys), rs2532811523, cosmic curated COSV60941, ClinGen CA360425280, ClinVar RCV002624056, Uncertain significance, Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impa
- R15C (p.Arg15Cys), rs796052728, ClinGen CA315916, ClinVar RCV000188145, ClinVar RCV001291376, AlphaMissense 1.00, MetaLR 0.78, Pathogenic/Likely pathogenic, Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impa
- R15G (p.Arg15Gly), rs796052728, ClinGen CA360425271, ClinVar RCV003132642, AlphaMissense 1.00, MetaLR 0.78, Uncertain significance, Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impa
- R15H (p.Arg15His), rs1202957297, ClinGen CA360425268, cosmic curated COSV60928, ClinVar RCV000760219, REVEL 0.79, AlphaMissense 1.00, Pathogenic/Likely pathogenic, Inborn genetic diseases; not provided; Neurodevelopmental disorder with hypotoni
- R15P (p.Arg15Pro), rs1202957297, ClinGen CA360425269, ClinVar RCV002250111, ClinVar RCV005255709, AlphaMissense 1.00, MetaLR 0.75, Pathogenic, not provided; Neurodevelopmental disorder with hypotonia, stereotypic hand movem
- N16* (p.Asn16Ter), rs1554150552, ClinGen CA658796545, ClinVar RCV000627395, ClinVar RCV001374908, Pathogenic
- N16D (p.Asn16Asp), ExAC rs774923789, gnomAD rs774923789, REVEL 0.87, CADD 27.30
- N16K (p.Asn16Lys), cosmic curated COSV10742, REVEL 0.82, CADD 26.30, Pathogenic, Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impa
- Q18H (p.Gln18His), cosmic curated COSV60941
- Q18R (p.Gln18Arg), rs2532809203, ClinGen CA360425249, ClinVar RCV002301718, Uncertain significance, Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impa
- V19L (p.Val19Leu), cosmic curated COSV10818
- T20A (p.Thr20Ala), rs1554139870, ClinGen CA360425221, ClinVar RCV001058915, Ensembl rs1554139870, AlphaMissense 1.00, MetaLR 0.86, Uncertain significance, Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impa
- T20I (p.Thr20Ile), rs2153075088, ClinGen CA360425217, ClinVar RCV001368792, Ensembl rs2153075088, AlphaMissense 1.00, MetaLR 0.89, Uncertain significance, Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impa
- T20S (p.Thr20Ser), rs1554139870, ClinGen CA360425220, ClinVar RCV000624618, Ensembl rs1554139870, AlphaMissense 1.00, MetaLR 0.86, Likely pathogenic, Inborn genetic diseases
- T22A (p.Thr22Ala), cosmic curated COSV60931
- T22R (p.Thr22Arg), rs1580990072, ClinGen CA360425204, ClinVar RCV001003588, Ensembl rs1580990072, AlphaMissense 0.99, MetaLR 0.67, Likely pathogenic, Epileptic encephalopathy
- K23R (p.Lys23Arg), rs797045053, ClinGen CA250375, cosmic curated COSV10968, ClinVar RCV000191104, AlphaMissense 0.99, MetaLR 0.82, Likely pathogenic, Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impa
- R24K (p.Arg24Lys), rs869312698, ClinGen CA358360, ClinVar RCV000209864, Ensembl rs869312698, AlphaMissense 1.00, MetaLR 0.95, Pathogenic/Likely pathogenic, Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impa
- K25E (p.Lys25Glu), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- F26C (p.Phe26Cys), NCI-TCGA Cosmic COSV6093, cosmic curated COSV60939, Variant assessed as somatic; moderate impact.
- G27A (p.Gly27Ala), rs397514656, ClinGen CA130789, ClinVar RCV000033231, Ensembl rs397514656, AlphaMissense 1.00, MetaLR 0.89, Pathogenic, Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impa
- G27R (p.Gly27Arg), rs2531289348, ClinGen CA360425173, ClinVar RCV003093183, ClinVar RCV005054433, Pathogenic, not provided; Neurodevelopmental disorder with hypotonia, stereotypic hand movem
- L28F (p.Leu28Phe), Ensembl rs2153074908
- L28V (p.Leu28Val), rs2531288763, ClinGen CA360425168, ClinVar RCV002461722, Uncertain significance, not provided
- M29I (p.Met29Ile), cosmic curated COSV60935, Likely pathogenic, Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impa
- K30N (p.Lys30Asn), cosmic curated COSV10522
- K30Q (p.Lys30Gln), cosmic curated COSV10042
- K30T (p.Lys30Thr), rs2531288616, ClinGen CA360425149, ClinVar RCV003232883, Likely pathogenic, Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impa
- K31N (p.Lys31Asn), rs1057518382, ClinGen CA16042532, cosmic curated COSV10042, ClinVar RCV000414651, AlphaMissense 1.00, MetaLR 0.95, Uncertain significance, not specified
- K31E (p.Lys31Glu), rs2531288452, ClinGen CA360425143, ClinVar RCV002824141, Uncertain significance, Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impa
- K31T (p.Lys31Thr), Ensembl rs2153074892, REVEL 0.98, CADD 28.40
- Y33* (p.Tyr33Ter), cosmic curated COSV10650, CADD 28.50
- Y33C (p.Tyr33Cys), 1000Genomes rs2153074860, REVEL 0.88, CADD 31.00
- E34* (p.Glu34Ter), rs2153074822, ClinGen CA913184777, ClinVar RCV000033230, Pathogenic
- L35P (p.Leu35Pro), rs2153074771, ClinGen CA360425113, ClinVar RCV002249102, Ensembl rs2153074771, AlphaMissense 1.00, MetaLR 0.92, Pathogenic/Likely pathogenic, Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impa
- L35R (p.Leu35Arg), rs2153074771, ClinGen CA360425112, ClinVar RCV001805750, Ensembl rs2153074771, AlphaMissense 1.00, MetaLR 0.92, Likely pathogenic, Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impa
- S36G (p.Ser36Gly), rs2153074738, ClinGen CA360425111, ClinVar RCV001576604, Ensembl rs2153074738, AlphaMissense 0.98, MetaLR 0.86, Likely pathogenic, not provided
- S36R (p.Ser36Arg), rs2153074738, ClinGen CA360425110, ClinVar RCV003149131, UniProt VAR 078228, AlphaMissense 0.98, MetaLR 0.86, Likely pathogenic, Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impa
- V37A (p.Val37Ala), rs1799677960, ClinGen CA360425100, ClinVar RCV001262292, Ensembl rs1799677960, AlphaMissense 1.00, MetaLR 0.84, Uncertain significance, Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impa
- V37L (p.Val37Leu), rs765658557, NCI-TCGA Cosmic COSV6093, cosmic curated COSV60932, ExAC rs765658557, REVEL 0.89, CADD 25.50, Pathogenic
- V37M (p.Val37Met), rs765658557, ClinGen CA3337377, ClinVar RCV003129165, ClinVar RCV003619820, REVEL 0.89, CADD 26.40, Conflicting interpretations, not provided; Neurodevelopmental disorder with hypotonia, stereotypic hand movem
- L38P (p.Leu38Pro), rs397514655, ClinGen CA360425096, ClinVar RCV000622665, ClinVar RCV003139948, AlphaMissense 1.00, MetaLR 0.95, Pathogenic, Inborn genetic diseases; Neurodevelopmental disorder with hypotonia, stereotypic
- L38Q (p.Leu38Gln), rs397514655, ClinGen CA130787, ClinVar RCV000033229, Ensembl rs397514655, AlphaMissense 1.00, MetaLR 0.95, Pathogenic, Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impa
- C39R (p.Cys39Arg), rs796052729, ClinGen CA315919, ClinVar RCV000188146, UniProt VAR 078621, AlphaMissense 1.00, MetaLR 0.91, Uncertain significance, not provided
- D40G (p.Asp40Gly), rs2153074606, ClinGen CA360425084, ClinVar RCV001843877, Ensembl rs2153074606, AlphaMissense 0.99, MetaLR 0.71, Uncertain significance, Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impa
- C41* (p.Cys41Ter), Ensembl rs1554139771, Pathogenic
- C41R (p.Cys41Arg), rs794727493, ClinGen CA243260, ClinVar RCV000177153, Ensembl rs794727493, AlphaMissense 1.00, MetaLR 0.75, Uncertain significance, not provided
- C41S (p.Cys41Ser), cosmic curated COSV60931
- E42D (p.Glu42Asp), rs2153074530, ClinGen CA360425066, ClinVar RCV001754425, Ensembl rs2153074530, AlphaMissense 1.00, MetaLR 0.59, Uncertain significance, not provided
- I43S (p.Ile43Ser), rs2531284325, ClinGen CA360425059, ClinVar RCV003041771, Uncertain significance, Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impa
- I43V (p.Ile43Val), Ensembl rs2153074514
- A44E (p.Ala44Glu), rs1799664202, ClinGen CA360425054, ClinVar RCV003031529, cosmic curated COSV60936, AlphaMissense 1.00, MetaLR 0.79, Uncertain significance, Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impa
- A44V (p.Ala44Val), rs1799664202, ClinGen CA360425052, NCI-TCGA Cosmic COSV6092, cosmic curated COSV60929, REVEL 0.80, AlphaMissense 1.00, Uncertain significance, Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impa
- L45P (p.Leu45Pro), rs2531283403, ClinGen CA360425048, ClinVar RCV003509833, Likely pathogenic, Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impa
- I46N (p.Ile46Asn), rs1799660837, ClinGen CA360425042, cosmic curated COSV10042, ClinVar RCV001203899, AlphaMissense 1.00, MetaLR 0.89, Conflicting interpretations, Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impa
- I47M (p.Ile47Met), cosmic curated COSV60941
- N49S (p.Asn49Ser), cosmic curated COSV60932, REVEL 0.61, CADD 26.40
- N49T (p.Asn49Thr), NCI-TCGA Cosmic COSV1004, cosmic curated COSV10042, NCI-TCGA Cosmic COSV6093, Variant assessed as somatic; moderate impact.
- S50G (p.Ser50Gly), gnomAD rs1156748158, REVEL 0.73, CADD 22.40
- S50N (p.Ser50Asn), cosmic curated COSV60942, REVEL 0.57, CADD 23.30
- T51I (p.Thr51Ile), rs1057519001, ClinGen CA16043612, ClinVar RCV000415447, Ensembl rs1057519001, AlphaMissense 0.95, MetaLR 0.79, Uncertain significance, intellectual deficiency; Epilepsy
- T51P (p.Thr51Pro), cosmic curated COSV10968
- N52H (p.Asn52His), TOPMed rs1799654319
- Q56* (p.Gln56Ter), cosmic curated COSV60941
- Q56H (p.Gln56His), rs2153074335, ClinGen CA360424968, ClinVar RCV001758339, Ensembl rs2153074335, AlphaMissense 1.00, MetaLR 0.68, Uncertain significance, not provided
- Y57C (p.Tyr57Cys), rs2153074319, ClinGen CA360424961, ClinVar RCV001376765, Ensembl rs2153074319, AlphaMissense 1.00, MetaLR 0.84, Likely pathogenic, Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impa
- A58T (p.Ala58Thr), cosmic curated COSV60934
- S59R (p.Ser59Arg), rs1554139743, Ensembl rs1554139743, ClinGen CA360424946, ClinVar RCV001253221, AlphaMissense 1.00, MetaLR 0.82, Likely pathogenic, Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impa
- D61N (p.Asp61Asn), cosmic curated COSV60940
- M62I (p.Met62Ile), rs2531280721, ClinVar RCV004592358, Uncertain significance, not provided
- D63E (p.Asp63Glu), cosmic curated COSV60931
- D63G (p.Asp63Gly), NCI-TCGA Cosmic COSV6092, cosmic curated COSV60927, Variant assessed as somatic; moderate impact.
- K64E (p.Lys64Glu), 1000Genomes rs199802258
- V65A (p.Val65Ala), rs1580988074, ClinGen CA360424904, ClinVar RCV001393858, Ensembl rs1580988074, AlphaMissense 1.00, MetaLR 0.67, Likely benign, Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impa
- V65G (p.Val65Gly), rs1580988074, ClinGen CA360424902, ClinVar RCV001027718, Ensembl rs1580988074, AlphaMissense 1.00, MetaLR 0.67, Likely pathogenic, Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impa
- L66I (p.Leu66Ile), cosmic curated COSV60927
- L66V (p.Leu66Val), rs1799641525, ClinGen CA360424900, ClinVar RCV004799465, Ensembl rs1799641525, AlphaMissense 1.00, MetaLR 0.62, Uncertain significance, Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impa
- L67I (p.Leu67Ile), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- L67P (p.Leu67Pro), cosmic curated COSV60937
- Y69F (p.Tyr69Phe), rs2153074116, ClinGen CA360424876, ClinVar RCV001907432, Ensembl rs2153074116, AlphaMissense 0.97, MetaLR 0.74, Uncertain significance, Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impa
- Y69H (p.Tyr69His), cosmic curated COSV60928
- Y69N (p.Tyr69Asn), cosmic curated COSV60925
- T70M (p.Thr70Met), NCI-TCGA Cosmic COSV1004, cosmic curated COSV10042, Variant assessed as somatic; moderate impact.
- T70P (p.Thr70Pro), NCI-TCGA Cosmic COSV1004, cosmic curated COSV10042, Variant assessed as somatic; moderate impact.
- E71* (p.Glu71Ter), NCI-TCGA TCGA novel, Variant assessed as somatic; high impact.
- E71D (p.Glu71Asp), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- Y72* (p.Tyr72Ter), rs2531278356, ClinGen CA360424852, ClinVar RCV003444481, Likely pathogenic
- Y72C (p.Tyr72Cys), NCI-TCGA Cosmic COSV1004, cosmic curated COSV10042, Variant assessed as somatic; moderate impact.
- N73K (p.Asn73Lys), rs768621677, ExAC rs768621677, TOPMed rs768621677, gnomAD rs768621677, REVEL 0.54, CADD 22.00, Likely benign
- E74* (p.Glu74Ter), rs2153074000, ClinGen CA360424843, ClinVar RCV001684642, Ensembl rs2153074000, Pathogenic
- E74K (p.Glu74Lys), cosmic curated COSV60936
- E74V (p.Glu74Val), NCI-TCGA Cosmic COSV6094, cosmic curated COSV60941, Variant assessed as somatic; moderate impact.
- P75L (p.Pro75Leu), cosmic curated COSV60938
- P75Q (p.Pro75Gln), Ensembl rs17852407
- H76L (p.His76Leu), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- H76N (p.His76Asn), cosmic curated COSV60931
- H76R (p.His76Arg), rs2531277342, ClinGen CA360424826, ClinVar RCV004527929, ClinVar RCV005414694, Uncertain significance, MEF2C-related disorder; not provided
- E77K (p.Glu77Lys), cosmic curated COSV60928, 1000Genomes rs577764467, ExAC rs577764467, gnomAD rs577764467, REVEL 0.76, CADD 29.50
- E77V (p.Glu77Val), cosmic curated COSV10042
- S78T (p.Ser78Thr), cosmic curated COSV60928
- R79P (p.Arg79Pro), rs1554139693, ClinGen CA360424804, ClinVar RCV000658068, Ensembl rs1554139693, AlphaMissense 1.00, MetaLR 0.70, Likely pathogenic, not provided
- R79W (p.Arg79Trp), cosmic curated COSV60928, Ensembl rs1021588454, Likely benign
- T80Q (p.Thr80Gln), NCI-TCGA TCGA novel, Variant assessed as somatic; high impact.
- N81D (p.Asn81Asp), rs2531275882, ClinGen CA360424795, ClinVar RCV003314214, Pathogenic, Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impa
- N81K (p.Asn81Lys), ExAC rs745588042, TOPMed rs745588042, gnomAD rs745588042, REVEL 0.47, CADD 27.80, Likely benign
- V85A (p.Val85Ala), cosmic curated COSV60927
- V85E (p.Val85Glu), cosmic curated COSV60925
- V85L (p.Val85Leu), gnomAD rs1284065269, Benign, Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impa
- V85M (p.Val85Met), NCI-TCGA Cosmic COSV6092, cosmic curated COSV60926, REVEL 0.51, CADD 30.00, Variant assessed as somatic; moderate impact.
- E86K (p.Glu86Lys), cosmic curated COSV60940
- T87M (p.Thr87Met), cosmic curated COSV10818, REVEL 0.60, CADD 42.00
- R89K (p.Arg89Lys), ExAC rs757991225, gnomAD rs757991225, Uncertain significance, Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impa
- K90* (p.Lys90Ter), NCI-TCGA Cosmic COSV1004, cosmic curated COSV10042, Variant assessed as somatic; high impact.
- K90N (p.Lys90Asn), cosmic curated COSV60940
- K91N (p.Lys91Asn), cosmic curated COSV60934
- K91R (p.Lys91Arg), cosmic curated COSV60929
- L93F (p.Leu93Phe), cosmic curated COSV10522, gnomAD rs1388407854, REVEL 0.33, CADD 23.70
- N94D (p.Asn94Asp), rs1777743502, ClinGen CA360424694, ClinVar RCV001294820, Ensembl rs1777743502, AlphaMissense 0.46, MetaLR 0.73, Uncertain significance, Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impa
- C96F (p.Cys96Phe), NCI-TCGA Cosmic COSV1004, cosmic curated COSV10042, Variant assessed as somatic; moderate impact.
- C96W (p.Cys96Trp), ExAC rs752200616, gnomAD rs752200616, REVEL 0.61, CADD 32.00
- D100Y (p.Asp100Tyr), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- P101R (p.Pro101Arg), ExAC rs779532631, gnomAD rs779532631
- P101T (p.Pro101Thr), rs2548168565, ClinGen CA360424643, ClinVar RCV003127257, Likely pathogenic, Autism spectrum disorder
- D102H (p.Asp102His), rs2152674244, ClinGen CA360424638, ClinVar RCV001977297, Ensembl rs2152674244, AlphaMissense 0.79, MetaLR 0.80, Uncertain significance, Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impa
- D102N (p.Asp102Asn), cosmic curated COSV10522, REVEL 0.35, CADD 26.00
- A103S (p.Ala103Ser), cosmic curated COSV60936
- A103V (p.Ala103Val), rs755436703, ClinGen CA3337341, ClinVar RCV000419451, ClinVar RCV001861501, REVEL 0.38, CADD 29.60, Conflicting interpretations, Inborn genetic diseases; Neurodevelopmental disorder with hypotonia, stereotypic
- D104E (p.Asp104Glu), rs587781034, cosmic curated COSV60936, ClinGen CA360424620, ClinVar RCV003620120, Uncertain significance, Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impa
- D105E (p.Asp105Glu), rs2548167816, ClinGen CA360424612, ClinVar RCV003319736, Uncertain significance, not provided
- D105N (p.Asp105Asn), cosmic curated COSV60931, Uncertain significance, Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impa
- D105Y (p.Asp105Tyr), Ensembl rs2152674070
- S106F (p.Ser106Phe), NCI-TCGA Cosmic COSV1004, cosmic curated COSV10042, Variant assessed as somatic; moderate impact.
- V107A (p.Val107Ala), rs2548167518, ClinGen CA360424601, ClinVar RCV002295425, Uncertain significance, Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impa
- V107I (p.Val107Ile), rs750647048, ClinGen CA360424604, cosmic curated COSV60936, ClinVar RCV001299508, Benign, Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impa
- V107L (p.Val107Leu), ExAC rs750647048, TOPMed rs750647048, gnomAD rs750647048, Uncertain significance
- G108C (p.Gly108Cys), NCI-TCGA Cosmic COSV1004, cosmic curated COSV10042, Variant assessed as somatic; moderate impact.
- G108V (p.Gly108Val), Ensembl rs1777722617
- H109R (p.His109Arg), TOPMed rs1267170072, gnomAD rs1267170072, REVEL 0.34, CADD 18.00
- S110C (p.Ser110Cys), cosmic curated COSV60930
- S110I (p.Ser110Ile), NCI-TCGA Cosmic COSV6094, cosmic curated COSV60940, Variant assessed as somatic; moderate impact.
- S110R (p.Ser110Arg), cosmic curated COSV60940
- P111S (p.Pro111Ser), 1000Genomes rs191857330
- E112D (p.Glu112Asp), gnomAD rs1340835191, REVEL 0.22, CADD 20.20
- D115E (p.Asp115Glu), rs2548166538, ClinGen CA360424543, ClinVar RCV002617739, ClinVar RCV004763438, Uncertain significance, Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impa
- D115N (p.Asp115Asn), cosmic curated COSV10522
- K116E (p.Lys116Glu), rs1777713411, ClinGen CA360424541, ClinVar RCV001318909, ClinVar RCV001751612, AlphaMissense 0.78, MetaLR 0.80, Uncertain significance, not provided; Neurodevelopmental disorder with hypotonia, stereotypic hand movem
- K116T (p.Lys116Thr), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- Y117H (p.Tyr117His), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- R118G (p.Arg118Gly), cosmic curated COSV10522
- R118K (p.Arg118Lys), NCI-TCGA Cosmic COSV6093, cosmic curated COSV60930, Variant assessed as somatic; moderate impact.
- K119R (p.Lys119Arg), cosmic curated COSV60941
Public MEF2C analysis runs
- MEF2C analysis run — MEF2C (864 variants) — completed 2026-08-22