### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CNTN2) # 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}}" "CNTN2" "contactin 2 (axonal)" "1" "q32.1" "unknown" "NG_033845.1" "UD_132319236824" "" "https://www.LOVD.nl/CNTN2" "" "1" "2172" "6900" "190197" "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/CNTN2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-12-20 10:24:24" "00000" "2024-02-26 20:06:56" ## 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}}" "00005423" "CNTN2" "contactin 2 (axonal)" "001" "NM_005076.3" "" "NP_005067.1" "" "" "" "-269" "7401" "3123" "205012340" "205047171" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "03928" "FAME5" "epilepsy, myoclonic, familial adult, type 5 (FAME5)" "AR" "615400" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2019-12-20 10:21:13" "05408" "FAME" "epilepsy, myoclonic, familial adult (FAME)" "" "" "" "autosomal dominant; myoclonic tremor (cortical tremor), infrequent epilepsy with benign clinical course" "alias familial essential myoclonus and epilepsy; cortical tremor; benign adult familial myoclonic epilepsy (BAFME); familial adult myoclonic epilepsy (FAME); autosomal dominant cortical tremor, myoclonus and epilepsy; familial cortical myoclonic tremor with epilepsy (FCMTE)" "00006" "2018-03-18 16:17:05" "00006" "2021-10-25 15:27:58" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "CNTN2" "03928" ## Individuals ## Do not remove or alter this header ## ## Count = 4 "{{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}}" "00271548" "" "" "" "5" "" "00006" "{PMID:Stogmann 2013:23518707}" "5-generation family, 5 affected sibs (4F, M), unaffected heterozygous carrier parents/relatives" "F;M" "yes" "Egypt" "" "0" "" "" "" "family" "00289665" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00289666" "" "" "" "5" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00289667" "" "" "" "11" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{individualid}}" "{{diseaseid}}" "00271548" "05408" "00289665" "00198" "00289666" "00198" "00289667" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 03928, 05408 ## Count = 1 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{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}}" "0000208126" "05408" "00271548" "00006" "Familial, autosomal recessive" "21y-39y" "see paper; ..., 5/5 generalized tonic clonic seizure, 5/5 cortical tremor, 4/5 complex partial seizure, 3/5 myoclonic jerks, 3/5 aura, 2/5 neuropsychiatric symptoms, IQ 78-86" "" "" "" "" "" "" "" "" "" "cortical myoclonic tremor and epilepsy" "" ## Screenings ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000272702" "00271548" "1" "00006" "00006" "2019-12-20 10:34:00" "" "" "SEQ" "DNA" "" "" "0000290833" "00289665" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000290834" "00289666" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000290835" "00289667" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000272702" "CNTN2" ## 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 = 13 "{{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}}" "0000273700" "0" "30" "1" "205027801" "205027801" "subst" "0" "01943" "CNTN2_000001" "g.205027801G>A" "" "" "" "CNTN2(NM_005076.4):c.487+10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.205058673G>A" "" "likely benign" "" "0000273701" "0" "30" "1" "205028229" "205028229" "subst" "0.00257573" "01943" "CNTN2_000002" "g.205028229C>T" "" "" "" "CNTN2(NM_005076.4):c.505C>T (p.L169F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.205059101C>T" "" "likely benign" "" "0000504938" "0" "50" "1" "205033581" "205033581" "subst" "0" "02327" "CNTN2_000003" "g.205033581A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.205064453A>G" "" "VUS" "" "0000504939" "0" "30" "1" "205035727" "205035727" "subst" "0.00807943" "01804" "CNTN2_000004" "g.205035727A>G" "" "" "" "CNTN2(NM_005076.3):c.1975A>G (p.(Asn659Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.205066599A>G" "" "likely benign" "" "0000626645" "3" "90" "1" "205028228" "205028228" "del" "0" "00006" "CNTN2_000005" "g.205028228del" "" "{PMID:Stogmann 2013:23518707}" "" "503_503delG" "" "Germline" "yes" "" "0" "" "" "g.205059100del" "" "pathogenic (recessive)" "" "0000647522" "1" "50" "1" "205033819" "205033819" "subst" "0.000403548" "03575" "CNTN2_000006" "g.205033819C>T" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs116647440}" "Germline" "" "rs116647440" "0" "" "" "g.205064691C>T" "" "VUS" "" "0000647523" "1" "10" "1" "205035721" "205035721" "subst" "0.000765323" "03575" "CNTN2_000007" "g.205035721C>T" "5/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "5 heterozygous, no homozygous; {DB:CLININrs2305276}" "Germline" "" "rs2305276" "0" "" "" "g.205066593C>T" "" "benign" "" "0000647524" "1" "10" "1" "205035727" "205035727" "subst" "0.00807943" "03575" "CNTN2_000004" "g.205035727A>G" "11/2792 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "11 heterozygous, no homozygous; {DB:CLININrs41264871}" "Germline" "" "rs41264871" "0" "" "" "g.205066599A>G" "" "benign" "" "0000653860" "0" "50" "1" "205038648" "205038648" "subst" "0.000949133" "01943" "CNTN2_000009" "g.205038648G>A" "" "" "" "CNTN2(NM_005076.4):c.2155G>A (p.G719R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.205069520G>A" "" "VUS" "" "0000675609" "0" "30" "1" "205027136" "205027136" "subst" "2.84502E-5" "01943" "CNTN2_000010" "g.205027136C>T" "" "" "" "CNTN2(NM_005076.4):c.158C>T (p.T53M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000799024" "0" "30" "1" "205027164" "205027164" "subst" "2.44826E-5" "01943" "CNTN2_000011" "g.205027164C>T" "" "" "" "CNTN2(NM_005076.4):c.186C>T (p.R62=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000799025" "0" "30" "1" "205041639" "205041639" "subst" "0.000134018" "01943" "CNTN2_000012" "g.205041639C>T" "" "" "" "CNTN2(NM_005076.4):c.2760C>T (p.S920=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000857229" "0" "50" "1" "205039138" "205039138" "subst" "2.44511E-5" "01943" "CNTN2_000013" "g.205039138C>T" "" "" "" "CNTN2(NM_005076.4):c.2380C>T (p.R794C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## 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 CNTN2 ## Count = 13 "{{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}}" "0000273700" "00005423" "30" "487" "10" "487" "10" "c.487+10G>A" "r.(=)" "p.(=)" "" "0000273701" "00005423" "30" "505" "0" "505" "0" "c.505C>T" "r.(?)" "p.(Leu169Phe)" "" "0000504938" "00005423" "50" "1372" "0" "1372" "0" "c.1372A>G" "r.(?)" "p.(Ile458Val)" "" "0000504939" "00005423" "30" "1975" "0" "1975" "0" "c.1975A>G" "r.(?)" "p.(Asn659Asp)" "" "0000626645" "00005423" "90" "504" "0" "504" "0" "c.504del" "r.(?)" "p.(Trp168Cysfs*163)" "6" "0000647522" "00005423" "50" "1460" "0" "1460" "0" "c.1460C>T" "r.(?)" "p.(Thr487Ile)" "" "0000647523" "00005423" "10" "1969" "0" "1969" "0" "c.1969C>T" "r.(?)" "p.(Arg657Trp)" "" "0000647524" "00005423" "10" "1975" "0" "1975" "0" "c.1975A>G" "r.(?)" "p.(Asn659Asp)" "" "0000653860" "00005423" "50" "2155" "0" "2155" "0" "c.2155G>A" "r.(?)" "p.(Gly719Arg)" "" "0000675609" "00005423" "30" "158" "0" "158" "0" "c.158C>T" "r.(?)" "p.(Thr53Met)" "" "0000799024" "00005423" "30" "186" "0" "186" "0" "c.186C>T" "r.(?)" "p.(Arg62=)" "" "0000799025" "00005423" "30" "2760" "0" "2760" "0" "c.2760C>T" "r.(?)" "p.(Ser920=)" "" "0000857229" "00005423" "50" "2380" "0" "2380" "0" "c.2380C>T" "r.(?)" "p.(Arg794Cys)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{variantid}}" "0000272702" "0000626645" "0000290833" "0000647522" "0000290834" "0000647523" "0000290835" "0000647524"