### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MEF2C) # charset = UTF-8 ## Genes ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{name}}" "{{chromosome}}" "{{chrom_band}}" "{{imprinting}}" "{{refseq_genomic}}" "{{refseq_UD}}" "{{reference}}" "{{url_homepage}}" "{{url_external}}" "{{allow_download}}" "{{id_hgnc}}" "{{id_entrez}}" "{{id_omim}}" "{{show_hgmd}}" "{{show_genecards}}" "{{show_genetests}}" "{{show_orphanet}}" "{{note_index}}" "{{note_listing}}" "{{refseq}}" "{{refseq_url}}" "{{disclaimer}}" "{{disclaimer_text}}" "{{header}}" "{{header_align}}" "{{footer}}" "{{footer_align}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{updated_by}}" "{{updated_date}}" "MEF2C" "myocyte enhancer factor 2C" "5" "q14" "unknown" "NG_023427.1" "UD_132118326735" "" "https://www.LOVD.nl/MEF2C" "" "1" "6996" "4208" "600662" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/MEF2C_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-11-28 20:14:00" "00006" "2025-08-29 19:42:17" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00011982" "MEF2C" "transcript variant 1" "004" "NM_002397.4" "" "NP_002388.2" "" "" "" "-654" "5785" "1422" "88179283" "88014058" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 9 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00344" "EE" "encephalopathy, epileptic (EE)" "" "" "" "" "" "00006" "2014-03-12 21:57:45" "00006" "2015-12-07 07:11:25" "00352" "CMD" "cardiomyopathy, dilated (CMD)" "" "" "" "" "" "00006" "2014-03-13 16:16:15" "00006" "2015-03-06 17:18:25" "00614" "MRD20" "mental retardation, autosomal dominant, type 20 (MRD20)" "AD" "613443" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-06-06 18:59:00" "04270" "epilepsy" "epilepsy" "" "" "" "" "" "00006" "2015-05-14 16:00:06" "00006" "2017-09-07 14:25:59" "05521" "seizures" "seizures" "" "" "" "" "" "00006" "2018-11-18 17:02:13" "" "" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "06906" "DEE" "encephalopathy, developmental and epileptic" "" "" "" "" "" "00006" "2022-04-07 09:24:23" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "MEF2C" "00139" "MEF2C" "00614" ## Individuals ## Do not remove or alter this header ## ## Count = 18 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00050624" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "M" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00102091" "" "" "" "1" "" "01864" "" "" "F" "no" "China" ">02y04m" "" "" "" "" "P21" "00226266" "" "" "" "3" "" "02588" "{PMID:Yuan 2017:28902616}" "proband, affected daughter (26y) and brother (49y), father (48y) died of heart failure" "-" "?" "China" "" "0" "" "" "Han Chinese" "28902616-proband-fam" "00269493" "" "" "" "1" "" "00006" "{PMID:Mikhail 2011:22031302}, {DOI:Mikhail 2011:10.1002/ajmg.a.34177}" "" "M" "" "" "" "0" "" "" "" "Pat2" "00288221" "" "" "" "1" "" "00006" "{PMID:Lee 2019:31607746}" "" "" "" "United States" "" "0" "" "" "" "Pat31" "00293922" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00303021" "" "" "" "1" "" "00006" "{PMID:Helbig 2016:26795593}" "" "" "" "United States" "" "0" "" "" "" "Pat66" "00303022" "" "" "" "1" "" "00006" "{PMID:Helbig 2016:26795593}" "" "" "" "United States" "" "0" "" "" "" "Pat67" "00303104" "" "" "" "1" "" "00006" "{PMID:Carvill 2013:23708187}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "T23549" "00303105" "" "" "" "1" "" "00006" "{PMID:Carvill 2013:23708187}" "2-generation family, 1 affected, unaffected parents" "M" "" "" "" "0" "" "" "" "T18044" "00305988" "" "" "" "1" "" "00006" "{PMID:Johannesen 2020:32427350}" "" "F" "" "Denmark" "" "0" "" "" "" "Pat19" "00307752" "" "" "" "1" "" "00006" "{PMID:Grozeva 2015:26350204}, {DOI:Grozeva 2015:10.1002/humu.22901}" "" "M" "" "" "" "0" "" "" "" "UK10K_FINDWGA5410689" "00375647" "" "" "" "1" "" "00006" "{PMID:Srivastava 2014:25131622}" "" "" "" "United States" "" "0" "" "" "" "Pat30" "00435321" "" "" "" "1" "" "01164" "" "" "M" "no" "Germany" "" "0" "" "" "" "264023" "00438647" "" "" "" "1" "" "00006" "{PMID:Hamdan 2017:29100083}" "WGS analysis 197 individuals with unexplained DEE (unaffected parents)" "" "" "Canada" "" "0" "" "pharmaco-resistant seizures" "" "HSJ0231" "00449802" "" "" "" "1" "" "03544" "" "" "M" "-" "- (not applicable)" "" "" "" "" "white" "" "00454767" "" "" "" "1" "" "03544" "" "" "F" "-" "- (not applicable)" "" "" "" "" "white" "" "00466421" "" "" "" "1" "" "01164" "" "" "M" "no" "Germany" "" "0" "" "" "" "343949" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 18 "{{individualid}}" "{{diseaseid}}" "00050624" "00198" "00102091" "00139" "00226266" "00352" "00269493" "00198" "00288221" "00198" "00293922" "00198" "00303021" "05521" "00303022" "05521" "00303104" "00344" "00303105" "00344" "00305988" "04270" "00307752" "00139" "00375647" "00198" "00435321" "00614" "00438647" "06906" "00449802" "00139" "00454767" "05611" "00466421" "00614" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 00344, 00352, 00614, 04270, 05521, 05611, 06906 ## Count = 16 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Birth/Gestational_age_wk}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000037236" "00198" "00050624" "00006" "Isolated (sporadic)" "" "visual impairment, seizures, seizures, infantile axial hypotonia, gastroesophageal reflux, recurrent infections due to aspiration" "" "" "" "" "" "" "" "" "" "" "" "" "0000080275" "00139" "00102091" "01864" "Isolated (sporadic)" "" "HP:0001999; HP:0000733; HP:0001629; HP:0001250; global developmental delay (HP:0001263)" "" "" "" "" "" "" "" "" "" "" "" "" "0000171392" "00352" "00226266" "02588" "Familial, autosomal dominant" "52y" "moderately reduced ejection fraction (HP:0012665), left ventricular diastolic dysfunction (HP:0025168)" "" "" "" "" "" "" "" "" "" "" "" "" "0000207324" "00198" "00269493" "00006" "Unknown" "2y6m" "see paper; ..., developmental delay, no behavioral problems, no seizures, expressive and receptive language delay, relative macrocephaly, epicanthic folds, flat nasal bridge, posteriorly rotated ears, hyperkinesis with stereotypic movement of hands and feet, MRI brain normal" "" "" "" "" "" "" "" "" "" "" "" "" "0000221958" "00198" "00288221" "00006" "Isolated (sporadic)" "20y" "absent speech, agitation, asymmetric ventricles, autistic behavior, brain atrophy, developmental delay, dilation of lateral ventricles, dysmetria, dystonia, hypotonia, increased variability in muscle fiber diameter, motor delay, muscle weakness, pes valgus, poor coordination, poor suck, tall stature" "" "" "" "" "" "" "" "" "" "" "" "" "0000230104" "05521" "00303021" "00006" "Isolated (sporadic)" "" "Unclassified epilepsy; age onset unknown" "" "" "" "" "" "" "" "" "" "" "seizures" "" "0000230105" "05521" "00303022" "00006" "Isolated (sporadic)" "" "Fever related seizures; age onset childhood" "" "" "" "" "" "" "" "" "" "" "seizures" "" "0000230188" "00344" "00303104" "00006" "Isolated (sporadic)" "3y6m" "seizures febrile seizure (13m), absence, status epilepticus, tonic-clonic; EEG multi-focal discharges, diffuse slowing; development prior to seizures delayed; Severe intellectual disability, autism spectrum disorder, regression" "" "" "" "" "" "" "" "" "" "MRD20" "epileptic encephalopathy" "" "0000230189" "00344" "00303105" "00006" "Isolated (sporadic)" "4y" "seizures hemiclonic (4m), absence, atonic, focal, infantile spasms, myoclonic jerks, tonic-clonic; EEG Mod Hyps, multi-focal discharges; development prior to seizures normal; intellectual disability, no regression" "" "" "" "" "" "" "" "" "" "MRD20" "epileptic encephalopathy" "" "0000231834" "04270" "00305988" "00006" "Unknown" "22y" "" "" "" "" "" "" "" "" "" "" "developmental and epileptic encephalopathy" "focal epilepsy" "" "0000270860" "00198" "00375647" "00006" "Isolated (sporadic)" "" "intellectual disability/developmental delay; seizures; strabismus; hypotonia; hyper-reflexia; stereotyped behavior; MRI brain delayed myelination" "" "" "3y" "" "" "" "" "" "" "" "" "" "0000325517" "00614" "00435321" "01164" "Isolated (sporadic)" "01y" "Seizure,Motor delay, Abnormal corpus callosum morphology,Ventricular septal defect, High anterior hairline, Prominent forehead, Neurodevelopmental delay" "" "" "" "" "" "" "" "" "" "" "" "" "0000328550" "06906" "00438647" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "developmental and epileptic encephalopathy" "" "0000338948" "00139" "00449802" "03544" "Isolated (sporadic)" "" "HP:0002342, HP:0000729, HP:0001250, HP:0001270" "" "" "" "" "" "" "" "" "" "NEDHSIL" "intellectual disability" "" "0000343386" "05611" "00454767" "03544" "Isolated (sporadic)" "" "HP:0001250, HP:0010864, HP:0001344, HP:0001252, HP:0002273, HP:0002883, HP:0012171" "" "" "" "" "" "" "" "" "" "NEDHSIL" "complex neurodevelopmental disorder" "" "0000351785" "00614" "00466421" "01164" "Isolated (sporadic)" "02y" "Seizure, Failure to thrive, Motor delay, Delayed speech and language development, EEG abnormality, Abnormal liver morphology" "" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 18 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000050569" "00050624" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000102542" "00102091" "1" "01864" "01864" "2017-03-30 10:12:16" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000227333" "00226266" "1" "02588" "02588" "2019-03-06 12:14:07" "" "" "SEQ" "DNA" "blood" "" "0000270647" "00269493" "1" "00006" "00006" "2019-11-28 19:57:10" "00006" "2019-11-28 20:08:21" "arrayCGH;FISH" "DNA" "" "" "0000289390" "00288221" "1" "00006" "00006" "2020-02-16 14:03:09" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "fibroblast" "WES" "0000295090" "00293922" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000304146" "00303021" "1" "00006" "00006" "2020-06-05 14:08:27" "" "" "SEQ-NG" "DNA" "" "WES" "0000304147" "00303022" "1" "00006" "00006" "2020-06-05 14:08:27" "" "" "SEQ-NG" "DNA" "" "WES" "0000304228" "00303104" "1" "00006" "00006" "2020-06-06 19:15:13" "" "" "SEQ;SEQ-NG" "DNA" "" "65-gene panel" "0000304229" "00303105" "1" "00006" "00006" "2020-06-06 19:15:13" "" "" "SEQ;SEQ-NG" "DNA" "" "65-gene panel" "0000307118" "00305988" "1" "00006" "00006" "2020-07-06 16:08:38" "" "" "SEQ;SEQ-NG" "DNA" "" "candidate gene panel" "0000308892" "00307752" "1" "00006" "00006" "2020-08-18 13:19:45" "" "" "SEQ;SEQ-NG" "DNA" "" "565 gene panel" "0000376844" "00375647" "1" "00006" "00006" "2021-06-14 20:30:20" "" "" "SEQ-NG" "DNA" "" "WES" "0000436801" "00435321" "1" "01164" "01164" "2023-06-30 14:31:37" "" "" "SEQ-NG-I" "DNA" "" "" "0000440129" "00438647" "1" "00006" "00006" "2023-10-21 19:20:17" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000451397" "00449802" "1" "03544" "03544" "2024-05-15 11:54:27" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "CES" "0000456379" "00454767" "1" "03544" "03544" "2024-09-26 08:38:31" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "WES" "0000468084" "00466421" "1" "01164" "01164" "2025-08-29 12:23:08" "" "" "SEQ-NG-I" "DNA" "Blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 13 "{{screeningid}}" "{{geneid}}" "0000050569" "MEF2C" "0000102542" "MEF2C" "0000227333" "MEF2C" "0000270647" "MEF2C" "0000289390" "MEF2C" "0000304146" "MEF2C" "0000304147" "MEF2C" "0000304228" "MEF2C" "0000304229" "MEF2C" "0000307118" "MEF2C" "0000308892" "MEF2C" "0000436801" "MEF2C" "0000468084" "MEF2C" ## Variants_On_Genome ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Count = 54 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{average_frequency}}" "{{owned_by}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{VariantOnGenome/Restriction_site}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/Genetic_origin}}" "{{VariantOnGenome/Segregation}}" "{{VariantOnGenome/dbSNP}}" "{{VariantOnGenome/VIP}}" "{{VariantOnGenome/Methylation}}" "{{VariantOnGenome/ISCN}}" "{{VariantOnGenome/DNA/hg38}}" "{{VariantOnGenome/ClinVar}}" "{{VariantOnGenome/ClinicalClassification}}" "{{VariantOnGenome/ClinicalClassification/Method}}" "0000079549" "0" "90" "5" "88047761" "88047765" "delins" "0" "00006" "MEF2C_000001" "g.88047761_88047765delTGinsT" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "Variant Error [EINCONSISTENTLENGTH]: This genomic variant has an error (Length implied by coordinates must equal sequence deletion length). Please fix this entry and then remove this message." "De novo" "" "" "0" "" "" "g.88751944_88751948delinsT" "" "pathogenic" "" "0000165282" "0" "70" "5" "88100569" "88100569" "subst" "0" "01864" "MEF2C_000002" "g.88100569A>G" "" "" "" "" "" "De novo" "yes" "" "0" "" "" "g.88804752A>G" "" "likely pathogenic" "" "0000251784" "0" "30" "5" "88047755" "88047755" "subst" "8.12236E-6" "02326" "MEF2C_000022" "g.88047755A>G" "" "" "" "MEF2C(NM_002397.5):c.508T>C (p.L170=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88751938A>G" "" "likely benign" "" "0000252106" "0" "30" "5" "88018401" "88018401" "del" "0" "02326" "MEF2C_000006" "g.88018401del" "" "" "" "MEF2C(NM_002397.5):c.*32delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88722584del" "" "likely benign" "" "0000252543" "0" "90" "5" "88100560" "88100560" "subst" "0" "02326" "MEF2C_000015" "g.88100560A>T" "" "" "" "MEF2C(NM_002397.5):c.113T>A (p.L38Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88804743A>T" "" "pathogenic" "" "0000255537" "0" "90" "5" "88119604" "88119604" "subst" "4.07282E-6" "01943" "MEF2C_000017" "g.88119604A>G" "" "" "" "MEF2C(NM_002397.4):c.2T>C (p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88823787A>G" "" "pathogenic" "" "0000282462" "0" "30" "5" "88027558" "88027558" "subst" "2.44095E-5" "02325" "MEF2C_000012" "g.88027558C>T" "" "" "" "MEF2C(NM_002397.5):c.798G>A (p.T266=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88731741C>T" "" "likely benign" "" "0000283660" "0" "70" "5" "88057003" "88057006" "del" "0" "02329" "MEF2C_000014" "g.88057003_88057006del" "" "" "" "MEF2C(NM_002397.5):c.401_402+2delGTGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88761186_88761189del" "" "likely pathogenic" "" "0000286236" "0" "10" "5" "88018316" "88018316" "subst" "0" "02326" "MEF2C_000005" "g.88018316T>C" "" "" "" "MEF2C(NM_002397.5):c.*105A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88722499T>C" "" "benign" "" "0000286237" "0" "10" "5" "88018316" "88018316" "del" "0" "02326" "MEF2C_000004" "g.88018316del" "" "" "" "MEF2C(NM_002397.5):c.*115delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88722499del" "" "benign" "" "0000286239" "0" "90" "5" "88027673" "88027673" "subst" "0" "02326" "MEF2C_000013" "g.88027673G>C" "" "" "" "MEF2C(NM_002397.5):c.683C>G (p.S228*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88731856G>C" "" "pathogenic" "" "0000286240" "0" "90" "5" "88100593" "88100593" "subst" "0" "02326" "MEF2C_000016" "g.88100593C>G" "" "" "" "MEF2C(NM_002397.5):c.80G>C (p.G27A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88804776C>G" "" "pathogenic" "" "0000286241" "0" "30" "5" "88026063" "88026063" "subst" "0.000227958" "02326" "MEF2C_000011" "g.88026063C>T" "" "" "" "MEF2C(NM_002397.5):c.811-12G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88730246C>T" "" "likely benign" "" "0000286242" "0" "10" "5" "88025855" "88025856" "del" "0" "02326" "MEF2C_000009" "g.88025855_88025856del" "" "" "" "MEF2C(NM_002397.5):c.834+181_834+182delTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88730038_88730039del" "" "benign" "" "0000286243" "0" "10" "5" "88025856" "88025856" "del" "0" "02326" "MEF2C_000010" "g.88025856del" "" "" "" "MEF2C(NM_002397.5):c.834+182delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88730039del" "" "benign" "" "0000286244" "0" "10" "5" "88025292" "88025292" "subst" "0" "02326" "MEF2C_000008" "g.88025292T>C" "" "" "" "MEF2C(NM_002397.5):c.835-128A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88729475T>C" "" "benign" "" "0000286245" "0" "90" "5" "88025166" "88025166" "subst" "0" "02326" "MEF2C_000007" "g.88025166T>C" "" "" "" "MEF2C(NM_002397.5):c.835-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88729349T>C" "" "pathogenic" "" "0000342363" "0" "90" "5" "88027698" "88027698" "subst" "0" "02327" "MEF2C_000020" "g.88027698G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88731881G>A" "" "pathogenic" "" "0000345150" "0" "50" "5" "88119566" "88119566" "subst" "0" "02327" "MEF2C_000021" "g.88119566C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88823749C>T" "" "VUS" "" "0000465553" "1" "90" "5" "88047792" "88047792" "subst" "0" "02588" "MEF2C_000023" "g.88047792G>C" "" "{PMID:Yuan 2017:28902616}" "" "" "" "Germline" "yes" "" "0" "" "" "g.88751975G>C" "" "pathogenic" "" "0000526269" "0" "30" "5" "88018724" "88018724" "subst" "0" "01943" "MEF2C_000024" "g.88018724A>G" "" "" "" "MEF2C(NM_002397.4):c.1119T>C (p.H373=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88722907A>G" "" "likely benign" "" "0000526270" "0" "90" "5" "88024447" "88024447" "subst" "0" "02329" "MEF2C_000025" "g.88024447T>C" "" "" "" "MEF2C(NM_002397.5):c.965-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88728630T>C" "" "pathogenic" "" "0000526271" "0" "30" "5" "88025178" "88025181" "del" "0" "01804" "MEF2C_000026" "g.88025178_88025181del" "" "" "" "MEF2C(NM_001131005.2):c.805-10_805-7del (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88729361_88729364del" "" "likely benign" "" "0000526272" "0" "30" "5" "88057041" "88057041" "subst" "0.000223523" "01943" "MEF2C_000027" "g.88057041G>A" "" "" "" "MEF2C(NM_002397.4):c.363C>T (p.N121=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88761224G>A" "" "likely benign" "" "0000526273" "0" "30" "5" "88057095" "88057095" "subst" "1.62725E-5" "02326" "MEF2C_000028" "g.88057095C>T" "" "" "" "MEF2C(NM_002397.5):c.309G>A (p.A103=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88761278C>T" "" "likely benign" "" "0000526274" "0" "70" "5" "88100415" "88100415" "subst" "0" "02327" "MEF2C_000029" "g.88100415C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88804598C>T" "" "likely pathogenic" "" "0000526275" "0" "30" "5" "88119539" "88119539" "subst" "9.50751E-5" "02326" "MEF2C_000030" "g.88119539T>A" "" "" "" "MEF2C(NM_002397.5):c.54+13A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88823722T>A" "" "likely benign" "" "0000526276" "0" "50" "5" "88119553" "88119553" "subst" "0" "02327" "MEF2C_000031" "g.88119553T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88823736T>C" "" "VUS" "" "0000526277" "0" "70" "5" "88119604" "88119604" "subst" "0" "01943" "MEF2C_000032" "g.88119604A>T" "" "" "" "MEF2C(NM_002397.4):c.2T>A (p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88823787A>T" "" "likely pathogenic" "" "0000604432" "0" "90" "5" "88169750" "88582500" "del" "0" "00006" "MEF2C_000033" "g.(88119748_88169750)_(88582500_88598629)del" "" "{PMID:Mikhail 2011:22031302}, {DOI:Mikhail 2011:10.1002/ajmg.a.34177}" "" "hg18 g.88205506_88618256del" "412 kb\r\ndeletion" "De novo" "" "" "0" "" "" "g.(88823931_88873933)_(89286683_89302812)del" "" "likely pathogenic (dominant)" "" "0000609827" "0" "50" "5" "88024416" "88024416" "subst" "0" "02325" "MEF2C_000034" "g.88024416A>G" "" "" "" "MEF2C(NM_002397.5):c.994T>C (p.(Ser332Pro), p.S332P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88728599A>G" "" "VUS" "" "0000645319" "0" "90" "5" "88142510" "88347193" "delins" "0" "00006" "MEF2C_000035" "g.88142510_88347193delinsG" "" "{PMID:Lee 2019:31607746}" "" "NC_000005.10(NM_001131005.2):c.-429_-142-22763delinsC" "decreased expression\r\nVariant Error [EBUILDMISMATCH]: This variant seems to mismatch; the genomic variants on hg19 and hg38 seem to not belong together. Please fix this entry and then remove this message." "De novo" "" "" "0" "" "" "g.88846693_88904105delinsG" "{CV:000863437.1}" "pathogenic (dominant)" "" "0000651779" "1" "90" "5" "88027590" "88027590" "subst" "0" "03575" "MEF2C_000036" "g.88027590G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs796052733}" "Germline" "" "rs796052733" "0" "" "" "g.88731773G>A" "" "pathogenic" "" "0000655424" "0" "30" "5" "88027558" "88027558" "subst" "2.44095E-5" "02326" "MEF2C_000012" "g.88027558C>T" "" "" "" "MEF2C(NM_002397.5):c.798G>A (p.T266=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88731741C>T" "" "likely benign" "" "0000667544" "0" "90" "5" "88100551" "88100552" "del" "0" "00006" "MEF2C_000038" "g.88100551_88100552del" "" "{PMID:Helbig 2016:26795593}" "" "123_124delTG" "" "De novo" "" "" "0" "" "" "g.88804734_88804735del" "" "pathogenic (dominant)" "ACMG" "0000667545" "0" "90" "5" "88100560" "88100560" "subst" "0" "00006" "MEF2C_000040" "g.88100560A>G" "" "{PMID:Helbig 2016:26795593}" "" "" "" "De novo" "" "" "0" "" "" "g.88804743A>G" "" "pathogenic (dominant)" "ACMG" "0000667656" "0" "90" "5" "88100558" "88100558" "subst" "0" "00006" "MEF2C_000039" "g.88100558A>G" "" "{PMID:Carvill 2013:23708187}" "" "Cys39Arg" "" "De novo" "" "" "0" "" "" "g.88804741A>G" "" "pathogenic (dominant)" "" "0000667657" "0" "90" "5" "88018422" "88018422" "subst" "0" "00006" "MEF2C_000037" "g.(88018422C>G)" "" "{PMID:Carvill 2013:23708187}" "" "*464Sext*?" "Variant Error [ESYNTAX]: This genomic variant has an error (char 23: expected one of \')\', \'_\', or a digit). Please fix this entry and then remove this message." "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000673683" "0" "70" "5" "88119561" "88119561" "dup" "0" "00006" "MEF2C_000041" "g.88119561dup" "" "{PMID:Johannesen 2020:32427350}" "" "45dupT" "ACMG PVS1, PM2" "Germline/De novo (untested)" "" "" "0" "" "" "g.88823744dup" "" "likely pathogenic" "ACMG" "0000677561" "0" "70" "5" "88119601" "88119601" "subst" "0" "02327" "MEF2C_000042" "g.88119601C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000683326" "0" "70" "5" "88024436" "88024437" "del" "0" "00006" "MEF2C_000043" "g.88024436_88024437del" "" "{PMID:Grozeva 2015:26350204}, {DOI:Grozeva 2015:10.1002/humu.22901}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.88728619_88728620del" "" "likely pathogenic (dominant)" "" "0000720520" "0" "70" "5" "88100557" "88100557" "subst" "0" "02329" "MEF2C_000044" "g.88100557C>T" "" "" "" "MEF2C(NM_001364330.2):c.116G>A (p.C39Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000788899" "0" "70" "5" "88100415" "88100415" "subst" "0" "00006" "MEF2C_000029" "g.88100415C>T" "" "{PMID:Srivastava 2014:25131622}" "" "" "" "De novo" "" "" "0" "" "" "g.88804598C>T" "" "likely pathogenic" "" "0000802206" "0" "70" "5" "88057074" "88057074" "del" "0" "02327" "MEF2C_000045" "g.88057074del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000802207" "0" "90" "5" "88100463" "88100463" "dup" "0" "02329" "MEF2C_000046" "g.88100463dup" "" "" "" "MEF2C(NM_001364330.2):c.211dupG (p.E71Gfs*7)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000886928" "0" "50" "5" "88100447" "88100447" "subst" "0" "02329" "MEF2C_000047" "g.88100447G>A" "" "" "" "MEF2C(NM_001364330.2):c.226C>T (p.H76Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000886929" "0" "70" "5" "88119631" "88119631" "subst" "0" "02327" "MEF2C_000048" "g.88119631G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000924387" "0" "90" "5" "88027590" "88027590" "subst" "0" "02327" "MEF2C_000036" "g.88027590G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000927944" "0" "70" "5" "88119502" "88119654" "del" "0" "01164" "MEF2C_000049" "g.88119502_88119654del" "" "" "" "" "ACMG: PVS1_STR, PS2_MOD, PM2_SUP; deletion of Ex2 which contains the ATG start codon" "De novo" "-" "" "0" "" "" "g.88823685_88823837del" "" "pathogenic (dominant)" "ACMG" "0000936287" "0" "70" "5" "88100504" "88100504" "subst" "0" "00006" "MEF2C_000050" "g.88100504A>C" "" "{PMID:Hamdan 2017:29100083}" "" "NM_002397:c.T169G (Y57D)" "" "De novo" "" "" "0" "" "" "" "" "likely pathogenic (dominant)" "" "0000976876" "0" "50" "5" "88024416" "88024416" "subst" "0" "01804" "MEF2C_000034" "g.88024416A>G" "" "" "" "MEF2C(NM_002397.5):c.994T>C (p.(Ser332Pro), p.S332P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000985268" "0" "70" "5" "88119562" "88119562" "subst" "0" "03544" "MEF2C_000051" "g.88119562C>T" "" "" "" "" "" "De novo" "-" "rs1202957297" "0" "" "" "g.88823745C>T" "620015" "likely pathogenic" "ACMG" "0001010037" "0" "90" "5" "88119563" "88119563" "subst" "0" "03544" "MEF2C_000052" "g.88119563G>A" "" "" "" "" "" "De novo" "-" "rs796052728" "0" "" "" "g.88823746G>A" "{CV:206129}" "pathogenic (dominant)" "ACMG" "0001047565" "0" "70" "5" "88100545" "88100545" "subst" "0" "01164" "MEF2C_000053" "g.88100545A>T" "" "" "" "" "ACMG: PS2-supporting,PM1-moderate,PM2-supporting,PP3-moderate, confirmed de novo in trio exome" "De novo" "-" "" "0" "" "" "g.88804728A>T" "" "likely pathogenic (dominant)" "ACMG" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes MEF2C ## Count = 54 "{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/Exon}}" "0000079549" "00011982" "00" "498" "0" "502" "0" "c.498_502delinsA" "r.(?)" "p.(Asn166Lysfs*20)" "" "0000165282" "00011982" "70" "104" "0" "104" "0" "c.104T>C" "r.(?)" "p.(Leu35Pro)" "" "0000251784" "00011982" "30" "508" "0" "508" "0" "c.508T>C" "r.(?)" "p.(Leu170=)" "" "0000252106" "00011982" "30" "1454" "0" "1454" "0" "c.*32del" "r.(?)" "p.(=)" "" "0000252543" "00011982" "90" "113" "0" "113" "0" "c.113T>A" "r.(?)" "p.(Leu38Gln)" "" "0000255537" "00011982" "90" "2" "0" "2" "0" "c.2T>C" "r.(?)" "p.(Met1?)" "" "0000282462" "00011982" "30" "798" "0" "798" "0" "c.798G>A" "r.(?)" "p.(Thr266=)" "" "0000283660" "00011982" "70" "401" "0" "402" "2" "c.401_402+2del" "r.spl?" "p.?" "" "0000286236" "00011982" "10" "1527" "0" "1527" "0" "c.*105A>G" "r.(=)" "p.(=)" "" "0000286237" "00011982" "10" "1537" "0" "1537" "0" "c.*115del" "r.(?)" "p.(=)" "" "0000286239" "00011982" "90" "683" "0" "683" "0" "c.683C>G" "r.(?)" "p.(Ser228Ter)" "" "0000286240" "00011982" "90" "80" "0" "80" "0" "c.80G>C" "r.(?)" "p.(Gly27Ala)" "" "0000286241" "00011982" "30" "811" "-12" "811" "-12" "c.811-12G>A" "r.(=)" "p.(=)" "" "0000286242" "00011982" "10" "834" "181" "834" "182" "c.834+181_834+182del" "r.(=)" "p.(=)" "" "0000286243" "00011982" "10" "834" "182" "834" "182" "c.834+182del" "r.(=)" "p.(=)" "" "0000286244" "00011982" "10" "835" "-128" "835" "-128" "c.835-128A>G" "r.(=)" "p.(=)" "" "0000286245" "00011982" "90" "835" "-2" "835" "-2" "c.835-2A>G" "r.spl?" "p.?" "" "0000342363" "00011982" "90" "658" "0" "658" "0" "c.658C>T" "r.(?)" "p.(Arg220Ter)" "" "0000345150" "00011982" "50" "40" "0" "40" "0" "c.40G>A" "r.(?)" "p.(Glu14Lys)" "" "0000465553" "00011982" "90" "471" "0" "471" "0" "c.471C>G" "r.(?)" "p.(Tyr157*)" "" "0000526269" "00011982" "30" "1119" "0" "1119" "0" "c.1119T>C" "r.(?)" "p.(His373=)" "" "0000526270" "00011982" "90" "965" "-2" "965" "-2" "c.965-2A>G" "r.spl?" "p.?" "" "0000526271" "00011982" "30" "835" "-10" "835" "-7" "c.835-10_835-7del" "r.(=)" "p.(=)" "" "0000526272" "00011982" "30" "363" "0" "363" "0" "c.363C>T" "r.(?)" "p.(Asn121=)" "" "0000526273" "00011982" "30" "309" "0" "309" "0" "c.309G>A" "r.(?)" "p.(Ala103=)" "" "0000526274" "00011982" "70" "258" "0" "258" "0" "c.258G>A" "r.(?)" "p.(Glu86=)" "" "0000526275" "00011982" "30" "54" "13" "54" "13" "c.54+13A>T" "r.(=)" "p.(=)" "" "0000526276" "00011982" "50" "53" "0" "53" "0" "c.53A>G" "r.(?)" "p.(Gln18Arg)" "" "0000526277" "00011982" "70" "2" "0" "2" "0" "c.2T>A" "r.(?)" "p.(Met1?)" "" "0000604432" "00011982" "90" "-403871" "0" "-143" "9022" "c.(-420000_-403871)_(-143+9022_-142-1)del" "r.0?" "p.0?" "_1_1i" "0000609827" "00011982" "50" "994" "0" "994" "0" "c.994T>C" "r.(?)" "p.(Ser332Pro)" "" "0000645319" "00011982" "90" "-21293" "0" "-142" "-22763" "c.-21293_-142-22763delinsC" "r.0?" "p.?" "" "0000651779" "00011982" "90" "766" "0" "766" "0" "c.766C>T" "r.(?)" "p.(Arg256*)" "" "0000655424" "00011982" "30" "798" "0" "798" "0" "c.798G>A" "r.(?)" "p.(Thr266=)" "" "0000667544" "00011982" "90" "123" "0" "124" "0" "c.123_124del" "r.(?)" "p.(Cys41*)" "" "0000667545" "00011982" "90" "113" "0" "113" "0" "c.113T>C" "r.(?)" "p.(Leu38Pro)" "" "0000667656" "00011982" "90" "115" "0" "115" "0" "c.115T>C" "r.(?)" "p.(Cys39Arg)" "" "0000667657" "00011982" "90" "1421" "0" "1421" "0" "c.(1421G>C)" "r.(?)" "*464Sext*?" "" "0000673683" "00011982" "70" "45" "0" "45" "0" "c.45dup" "r.(?)" "p.(Asn16LysfsTer19)" "" "0000677561" "00011982" "70" "5" "0" "5" "0" "c.5G>A" "r.(?)" "p.(Gly2Glu)" "" "0000683326" "00011982" "70" "973" "0" "974" "0" "c.973_974del" "r.(?)" "p.(Leu325Glufs*2)" "" "0000720520" "00011982" "70" "116" "0" "116" "0" "c.116G>A" "r.(?)" "p.(Cys39Tyr)" "" "0000788899" "00011982" "70" "258" "0" "258" "0" "c.258G>A" "r.spl?" "p.?" "" "0000802206" "00011982" "70" "332" "0" "332" "0" "c.332del" "r.(?)" "p.(Pro111Leufs*16)" "" "0000802207" "00011982" "90" "211" "0" "211" "0" "c.211dup" "r.(?)" "p.(Glu71Glyfs*7)" "" "0000886928" "00011982" "50" "226" "0" "226" "0" "c.226C>T" "r.(?)" "p.(His76Tyr)" "" "0000886929" "00011982" "70" "-26" "0" "-26" "0" "c.-26C>T" "r.(?)" "p.(=)" "" "0000924387" "00011982" "90" "766" "0" "766" "0" "c.766C>T" "r.(?)" "p.(Arg256*)" "" "0000927944" "00011982" "70" "-49" "0" "54" "50" "c.-49_54+50del" "r.?" "p.?" "2_2i" "0000936287" "00011982" "70" "169" "0" "169" "0" "c.169T>G" "" "" "" "0000976876" "00011982" "50" "994" "0" "994" "0" "c.994T>C" "r.(?)" "p.(Ser332Pro)" "" "0000985268" "00011982" "70" "44" "0" "44" "0" "c.44G>A" "r.(?)" "p.(Arg15His)" "2" "0001010037" "00011982" "90" "43" "0" "43" "0" "c.43C>T" "r.(?)" "p.(Arg15Cys)" "2" "0001047565" "00011982" "70" "128" "0" "128" "0" "c.128T>A" "r.(128T>A)" "p.(Ile43Asn)" "3" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 18 "{{screeningid}}" "{{variantid}}" "0000050569" "0000079549" "0000102542" "0000165282" "0000227333" "0000465553" "0000270647" "0000604432" "0000289390" "0000645319" "0000295090" "0000651779" "0000304146" "0000667544" "0000304147" "0000667545" "0000304228" "0000667656" "0000304229" "0000667657" "0000307118" "0000673683" "0000308892" "0000683326" "0000376844" "0000788899" "0000436801" "0000927944" "0000440129" "0000936287" "0000451397" "0000985268" "0000456379" "0001010037" "0000468084" "0001047565"