### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MAP2K4) # 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}}" "MAP2K4" "mitogen-activated protein kinase kinase 4" "17" "p12" "unknown" "NC_000017.10" "UD_132378580848" "" "https://www.LOVD.nl/MAP2K4" "" "1" "6844" "6416" "601335" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2026-10-13 21:49:43" "00006" "2026-10-14 08:47:40" ## 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}}" "00011743" "MAP2K4" "mitogen-activated protein kinase kinase 4" "001" "NM_003010.2" "" "NP_003001.1" "" "" "" "-69" "3674" "1200" "11924135" "12047051" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "MAP2K4" "05611" ## Individuals ## Do not remove or alter this header ## ## Count = 10 "{{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}}" "00487507" "" "" "" "1" "" "00006" "{PMID:Nomakuchi 2026:42869028}, {PMID:Nomakuchi 2025:41480045}" "2-generation family, 1 affected, unaffected non-carrier mother" "M" "" "" "" "0" "" "" "" "Pat1" "00487508" "" "" "" "1" "" "00006" "{PMID:Nomakuchi 2026:42869028}, {PMID:Nomakuchi 2025:41480045}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Pat2" "00487509" "" "" "" "1" "" "00006" "{PMID:Nomakuchi 2026:42869028}, {PMID:Nomakuchi 2025:41480045}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Pat3" "00487510" "" "" "" "1" "" "00006" "{PMID:Nomakuchi 2026:42869028}, {PMID:Nomakuchi 2025:41480045}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "Pat4" "00487511" "" "" "" "1" "" "00006" "{PMID:Nomakuchi 2026:42869028}, {PMID:Nomakuchi 2025:41480045}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Pat5" "00487512" "" "" "" "1" "" "00006" "{PMID:Nomakuchi 2026:42869028}, {PMID:Nomakuchi 2025:41480045}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Pat6" "00487513" "" "" "" "1" "" "00006" "{PMID:Nomakuchi 2026:42869028}, {PMID:Nomakuchi 2025:41480045}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "Pat7" "00487514" "" "" "" "1" "" "00006" "{PMID:Nomakuchi 2026:42869028}, {PMID:Nomakuchi 2025:41480045}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Pat8" "00487515" "" "" "" "1" "" "00006" "{PMID:Nomakuchi 2026:42869028}, {PMID:Nomakuchi 2025:41480045}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "Pat9" "00487516" "" "" "" "1" "" "00006" "{PMID:Nomakuchi 2026:42869028}, {PMID:Nomakuchi 2025:41480045}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "Pat10" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 10 "{{individualid}}" "{{diseaseid}}" "00487507" "05611" "00487508" "05611" "00487509" "05611" "00487510" "05611" "00487511" "05611" "00487512" "05611" "00487513" "05611" "00487514" "05611" "00487515" "05611" "00487516" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 05611 ## Count = 10 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000369958" "05611" "00487507" "00006" "Unknown" "05y-10y" "see paper; ..., developmental delay; autism; ADHD; behavioral concerns; hypotonia; no epilepsy; EEG normal; MRI brain focal cortical dysplasia, undulating contour to left anterior body of corpus callosum; astigmatism; recurrent ear infections; obstructive sleep apnea necessitating tonsillectomy/adenoidectomy; no cardiac anomalies; selective diet, swallowing issues; ectopic kidney; no musculoskeletal anomalies; polyhydramnios" "" "" "" "" "" "" "neurodevelopmental delay" "0000369959" "05611" "00487508" "00006" "Isolated (sporadic)" "05y-10y" "see paper; ..., no developmental delay; no intellectual disability; no autism; no ADHD; no behavioral concerns; no hypotonia; no epilepsy; EEG normal; hypermetropia; delayed tooth eruption; no respiratory problems; no cardiac anomalies; no gastrointestinal problems; right pyelectasis with dilated calyces & cortical thinning; short stature, delayed bone age; intrauterine growth restriction" "" "" "" "" "" "" "neurodevelopmental delay" "0000369960" "05611" "00487509" "00006" "Isolated (sporadic)" "<0d" "see paper; ..., terminated pregnancy; persistent superior vena cava; absent gallbladder; hypospadias; clenched fists; microcephaly, ncreased nuchal thickness, flattened forehead" "" "" "" "" "" "" "neurodevelopmental delay" "0000369961" "05611" "00487510" "00006" "Isolated (sporadic)" "10y-15y" "see paper; ..., developmental delay; intellectual disability; no autism; no ADHD; no behavioral concerns; no hypotonia; complex partial seizures; MRI brain normal; mild sensorineural hearing loss; respiratory problems; pulmonary artery stenosis, atrail septal defect, PFO; no gastrointestinal problems; no genitourinary problems; talipes, narrow chest, severe scoliosis; oligohydramnios" "" "" "" "" "" "" "neurodevelopmental delay" "0000369962" "05611" "00487511" "00006" "Isolated (sporadic)" "10y-15y" "see paper; ..., developmental delay; intellectual disability; no autism; no ADHD; no behavioral concerns; no hypotonia; epilepsy focal impaired awareness, motor onset; EEG sporadic sharp waves; MRI brain nonspecific white matter changes; no hearing loss; no cardiac anomalies; no genitourinary problems; pes equinus; normal pregnancy" "" "" "" "" "" "" "neurodevelopmental delay" "0000369963" "05611" "00487512" "00006" "Isolated (sporadic)" "<0d" "see paper; ..., intrauterine demise; MRI brain multiple and expansive germinal matrix hemorrhage; pleural/pericardiac effusion; megacystis w/o obstruction, hydronephrosis; intraventricular hemorrhage, Intrauterine demise" "" "" "" "" "" "" "neurodevelopmental delay" "0000369964" "05611" "00487513" "00006" "Isolated (sporadic)" "05y-10y" "see paper; ..., developmental delay; intellectual disability; no autism; no ADHD; no behavioral concerns; hypotonia; Lennox-Gastaut syndrome; EEG multifocal discharges with background slowing; MRI brainoccipital encephalomalacia, ventriculomegaly; exotropia; no hearing loss; restrictive lung disease, obstructive apnea; no cardiac anomalies; gastrostomy tube dependent; no genitourinary problems; hip dysplasia, scoliosis; perinatal stroke" "" "" "" "" "" "" "neurodevelopmental delay" "0000369965" "05611" "00487514" "00006" "Isolated (sporadic)" "10y-15y" "see paper; ..., developmental delay; intellectual disability; no autism; no ADHD; behavioral concerns; no hypotonia; no epilepsy; MRI brain normal; astigmatism; no hearing loss; no respiratory problems; no cardiac anomalies; no gastrointestinal problems; mild intermittent hydronephrosis; short stature, scoliosis, butterfly vertebra, contracures fingers/toes s/p surgical correction; IVF conception with vanishing twin at 12-16 weeks" "" "" "" "" "" "" "neurodevelopmental delay" "0000369966" "05611" "00487515" "00006" "Isolated (sporadic)" "15y-20y" "see paper; ..., developmental delay; intellectual disability; no autism; ADHD; behavioral concerns; hypotonia; generalized epilepsy; MRI brain thin corpus callosum, cerebellum moderate atrophy (vermis and lobes), abnormal temporal lobes; astigmatism; no respiratory problems; gastrointestinal problems; no genitourinary problems; joint stiffness, camptodactyly" "" "" "" "" "" "" "neurodevelopmental delay" "0000369967" "05611" "00487516" "00006" "Isolated (sporadic)" "10y-15y" "see paper; ..., developmental delay; intellectual disability; no autism; no ADHD; no behavioral concerns; no hypotonia; no epilepsy; EEG normal; MRI brain normal; amblyopia; delayed tooth ertuption; no respiratory problems; no cardiac anomalies; selective diet; no genitourinary problems; no musculoskeletal anomalies" "" "" "" "" "" "" "neurodevelopmental delay" ## Screenings ## Do not remove or alter this header ## ## Count = 10 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000489166" "00487507" "1" "00006" "00006" "2026-10-14 08:47:38" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000489167" "00487508" "1" "00006" "00006" "2026-10-14 08:47:38" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000489168" "00487509" "1" "00006" "00006" "2026-10-14 08:47:38" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000489169" "00487510" "1" "00006" "00006" "2026-10-14 08:47:38" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000489170" "00487511" "1" "00006" "00006" "2026-10-14 08:47:38" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000489171" "00487512" "1" "00006" "00006" "2026-10-14 08:47:38" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000489172" "00487513" "1" "00006" "00006" "2026-10-14 08:47:38" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000489173" "00487514" "1" "00006" "00006" "2026-10-14 08:47:38" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000489174" "00487515" "1" "00006" "00006" "2026-10-14 08:47:38" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000489175" "00487516" "1" "00006" "00006" "2026-10-14 08:47:38" "" "" "SEQ;SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 0 ## 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 = 11 "{{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}}" "0000658036" "0" "50" "17" "11998934" "11998934" "subst" "0" "02327" "MAP2K4_000001" "g.11998934C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.12095617C>T" "" "VUS" "" "0001093127" "0" "90" "17" "12016597" "12016601" "del" "0" "00006" "chr17_011061" "g.12016597_12016601del" "" "{PMID:Nomakuchi 2026:42869028}, {PMID:Nomakuchi 2025:41480045}" "" "(Leu245 Cys246delins)" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.12113280_12113284del" "" "pathogenic (dominant)" "" "0001093128" "0" "90" "17" "12032499" "12032499" "subst" "0" "00006" "chr17_011062" "g.12032499G>T" "" "{PMID:Nomakuchi 2026:42869028}, {PMID:Nomakuchi 2025:41480045}" "" "" "" "De novo" "" "" "0" "" "" "g.12129182G>T" "" "pathogenic (dominant)" "" "0001093129" "0" "90" "17" "11998934" "11998934" "subst" "0" "00006" "MAP2K4_000001" "g.11998934C>T" "" "{PMID:Nomakuchi 2026:42869028}, {PMID:Nomakuchi 2025:41480045}" "" "" "" "De novo" "" "" "0" "" "" "g.12095617C>T" "" "pathogenic (dominant)" "" "0001093130" "0" "90" "17" "12032511" "12032511" "subst" "0" "00006" "chr17_011063" "g.12032511A>T" "" "{PMID:Nomakuchi 2026:42869028}, {PMID:Nomakuchi 2025:41480045}" "" "" "" "De novo" "" "" "0" "" "" "g.12129194A>T" "" "pathogenic (dominant)" "" "0001093131" "0" "90" "17" "12028638" "12028638" "subst" "0" "00006" "chr17_011064" "g.12028638C>T" "" "{PMID:Nomakuchi 2026:42869028}, {PMID:Nomakuchi 2025:41480045}" "" "" "" "De novo" "" "" "0" "" "" "g.12125321C>T" "" "pathogenic (dominant)" "" "0001093132" "0" "90" "17" "11998993" "11999020" "del" "0" "00006" "chr17_011065" "g.11998993_11999020del" "" "{PMID:Nomakuchi 2026:42869028}, {PMID:Nomakuchi 2025:41480045}" "" "" "" "De novo" "" "" "0" "" "" "g.12095676_12095703del" "" "pathogenic (dominant)" "" "0001093133" "0" "90" "17" "11984791" "11984799" "del" "0" "00006" "chr17_011066" "g.11984791_11984799del" "" "{PMID:Nomakuchi 2026:42869028}, {PMID:Nomakuchi 2025:41480045}" "" "" "" "De novo" "" "" "0" "" "" "g.12081474_12081482del" "" "pathogenic (dominant)" "" "0001093134" "0" "90" "17" "11984728" "11984728" "subst" "0" "00006" "chr17_011067" "g.11984728G>T" "" "{PMID:Nomakuchi 2026:42869028}, {PMID:Nomakuchi 2025:41480045}" "" "" "" "De novo" "" "" "0" "" "" "g.12081411G>T" "" "pathogenic (dominant)" "" "0001093135" "0" "90" "17" "11998932" "11998933" "inv" "0" "00006" "chr17_011068" "g.11998932_11998933inv" "" "{PMID:Nomakuchi 2026:42869028}, {PMID:Nomakuchi 2025:41480045}" "" "434_435delinsAA" "" "De novo" "" "" "0" "" "" "g.12095615_12095616inv" "" "pathogenic (dominant)" "" "0001093136" "0" "90" "17" "11998923" "11998923" "subst" "0" "00006" "chr17_011069" "g.11998923A>C" "" "{PMID:Nomakuchi 2026:42869028}, {PMID:Nomakuchi 2025:41480045}" "" "" "" "De novo" "" "" "0" "" "" "g.12095606A>C" "" "pathogenic (dominant)" "" ## 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 MAP2K4 ## Count = 11 "{{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}}" "0000658036" "00011743" "50" "436" "0" "436" "0" "c.436C>T" "r.(?)" "p.(Leu146Phe)" "" "0001093127" "00011743" "90" "733" "0" "737" "0" "c.733_737del" "r.(?)" "p.(Leu245Ter)" "" "0001093128" "00011743" "90" "935" "0" "935" "0" "c.935G>T" "r.(?)" "p.(Ser312Ile)" "" "0001093129" "00011743" "90" "436" "0" "436" "0" "c.436C>T" "r.(?)" "p.(Leu146Phe)" "" "0001093130" "00011743" "90" "947" "0" "947" "0" "c.947A>T" "r.(?)" "p.(Gln316Leu)" "" "0001093131" "00011743" "90" "841" "0" "841" "0" "c.841C>T" "r.(?)" "p.(Arg281Ter)" "" "0001093132" "00011743" "90" "495" "0" "513" "9" "c.495_513+9del" "r.spl" "p.?" "" "0001093133" "00011743" "90" "337" "0" "345" "0" "c.337_345del" "r.(?)" "p.(Tyr113_Ser115del)" "" "0001093134" "00011743" "90" "274" "0" "274" "0" "c.274G>T" "r.(?)" "p.(Glu92Ter)" "" "0001093135" "00011743" "90" "434" "0" "435" "0" "c.434_435inv" "r.(?)" "p.(Leu145Gln)" "" "0001093136" "00011743" "90" "425" "0" "425" "0" "c.425A>C" "r.(?)" "p.(Gln142Pro)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 10 "{{screeningid}}" "{{variantid}}" "0000489166" "0001093127" "0000489167" "0001093128" "0000489168" "0001093129" "0000489169" "0001093130" "0000489170" "0001093131" "0000489171" "0001093132" "0000489172" "0001093133" "0000489173" "0001093134" "0000489174" "0001093135" "0000489175" "0001093136"