### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = COPB2) # 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}}" "COPB2" "coatomer protein complex, subunit beta 2 (beta prime)" "3" "q23" "unknown" "NC_000003.11" "UD_132612583184" "" "https://www.LOVD.nl/COPB2" "" "1" "2232" "9276" "606990" "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/COPB2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2021-09-28 08:46:03" "00000" "2025-05-05 21:14:00" ## 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}}" "00005524" "COPB2" "transcript variant 1" "001" "NM_004766.2" "" "NP_004757.1" "" "" "" "-130" "2993" "2721" "139108522" "139076433" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{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" "05970" "MCPH19" "microcephaly, type 19, primary, autosomal recessive (MCPH19)" "AR" "617800" "" "" "" "00006" "2021-09-28 08:48:01" "00006" "2021-09-28 08:48:46" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "COPB2" "05970" ## Individuals ## Do not remove or alter this header ## ## Count = 6 "{{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}}" "00383378" "" "" "" "1" "" "00006" "{PMID:Marom 2021:34450031}" "" "F" "" "United States" "" "0" "" "" "white;native American" "Fam1Pat1" "00383379" "" "" "" "1" "" "00006" "{PMID:Marom 2021:34450031}" "" "F" "" "United States" "" "0" "" "" "white;native American" "Fam2Pat2" "00383380" "" "" "" "1" "" "00006" "{PMID:Marom 2021:34450031}" "" "M" "" "" "" "0" "" "" "white;Jewish-Ashkenazi" "Fam3Pat3" "00383381" "" "" "" "1" "" "00006" "{PMID:Marom 2021:34450031}" "" "F" "" "" "" "0" "" "" "Asia" "Fam4Pat4" "00383382" "" "" "" "2" "" "00006" "{PMID:DiStasio 2017:29036432}, {PMID:Marom 2021:34450031}" "2-generation family, affected brother/sister, unaffected heterozygous carrier parents" "M" "" "United States" "" "0" "" "" "white;native American" "Fam5Pat5" "00383383" "" "" "00383382" "1" "" "00006" "{PMID:DiStasio 2017:29036432}, {PMID:Marom 2021:34450031}" "" "F" "" "United States" "" "0" "" "" "white;native American" "Fam5Pat6" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 6 "{{individualid}}" "{{diseaseid}}" "00383378" "00198" "00383379" "00198" "00383380" "00198" "00383381" "00198" "00383382" "00198" "00383383" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 05970 ## Count = 6 "{{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}}" "0000277163" "00198" "00383378" "00006" "Isolated (sporadic)" "9y" "birth 39w, no intra-uterine growth retardation or small for age at birth, weight 27th, height 35th, OFC 0.65; osteopenia; fractures; developmental delay; no intellectual disability, learning disability, ADHD; no spasticity, normal gait; no seizures; MRI brain focal cortical dysplasia" "" "" "" "" "" "" "" "" "" "2y-bone fracture" "" "0000277164" "00198" "00383379" "00006" "Unknown" "9y" "birth 33w, no intra-uterine growth retardation or small for age at birth, weight 43rd, height 10th, OFC -2.19; osteopenia; no fractures; developmental delay; mild intellectual disability; spasticity, wide-based unsteady gait, progressed to require walker and wheelchair; no seizures; MRI brain normal" "" "" "" "" "" "" "" "" "" "global developmental delay, microcephaly, progressive spastic paraparesis" "" "0000277165" "00198" "00383380" "00006" "Isolated (sporadic)" "4y" "birth at term, no intra-uterine growth retardation or small for age at birth; osteopenia; fractures; developmental delay; no spasticity, wide-based gait; no seizures; MRI brain normal" "" "" "" "" "" "" "" "" "" "fracture right distal femoral metadiaphysis" "" "0000277166" "00198" "00383381" "00006" "Isolated (sporadic)" "3y" "birth 40w, no intra-uterine growth retardation or small for age at birth, weight 25th, height 70th, OFC -4; no fractures; developmental delay; possible spasticity in ankles bilaterally (mild, with normal gait); no seizures; MRI brain normal" "" "" "" "" "" "" "" "" "" "global developmental delay, abnormal muscle tone, poor weight gain, microcephaly" "" "0000277167" "00198" "00383382" "00006" "Familial, autosomal recessive" "9y" "birth 36w, no intra-uterine growth retardation or small for age at birth, weight 63rd, height 1st, OFC -8; osteopenia; no fractures; developmental delay; severe intellectual disability, nonverbal; spasticity, non-ambulatory; seizures; MRI brain microcephaly, simplified gyral pattern, thin corpus callosum, delayed myelination" "" "" "" "" "" "" "" "" "MCPH19" "global developmental delay, spasticity, seizures, severe microcephaly" "" "0000277168" "00198" "00383383" "00006" "Familial, autosomal recessive" "12y" "birth 35w, no intra-uterine growth retardation or small for age at birth, weight 1st, height 30th, OFC -5.5; osteopenia; no fractures; developmental delay; severe intellectual disability, nonverbal; spasticity, non-ambulatory; seizures; MRI brain microcephaly, simplified gyral pattern, thin corpus callosum, delayed myelination" "" "" "" "" "" "" "" "" "MCPH19" "global developmental delay, spasticity, seizures, severe microcephaly" "" ## Screenings ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000384602" "00383378" "1" "00006" "00006" "2021-09-29 09:23:06" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000384603" "00383379" "1" "00006" "00006" "2021-09-29 09:23:06" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000384604" "00383380" "1" "00006" "00006" "2021-09-29 09:23:06" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000384605" "00383381" "1" "00006" "00006" "2021-09-29 09:23:06" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000384606" "00383382" "1" "00006" "00006" "2021-09-29 09:23:06" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000384607" "00383383" "1" "00006" "00006" "2021-09-29 09:23:06" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## 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 = 24 "{{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}}" "0000282580" "0" "30" "3" "139074528" "139074528" "subst" "9.75356E-5" "02325" "COPB2_000004" "g.139074528G>A" "" "" "" "MRPS22(NM_020191.4):c.883G>A (p.D295N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.139355686G>A" "" "likely benign" "" "0000719220" "0" "30" "3" "139071522" "139071522" "subst" "4.06488E-5" "01943" "COPB2_000005" "g.139071522C>T" "" "" "" "MRPS22(NM_020191.3):c.766C>T (p.R256C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000719221" "0" "50" "3" "139071543" "139071543" "subst" "0.000386129" "01943" "COPB2_000006" "g.139071543C>T" "" "" "" "MRPS22(NM_020191.3):c.787C>T (p.R263C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000801023" "0" "30" "3" "139086977" "139086977" "subst" "0.000162966" "01943" "COPB2_000003" "g.139086977A>T" "" "" "" "COPB2(NM_004766.3):c.1545+10T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000811347" "0" "90" "3" "139088355" "139088356" "del" "0" "00006" "COPB2_000002" "g.139088355_139088356del" "" "{PMID:Marom 2021:34450031}" "" "c.1237_1238delAA" "" "De novo" "" "" "0" "" "" "g.139369513_139369514del" "" "pathogenic (dominant)" "" "0000811348" "0" "90" "3" "139081338" "139081338" "dup" "0" "00006" "COPB2_000007" "g.139081338dup" "" "{PMID:Marom 2021:34450031}" "" "c.1906dupA" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.139362496dup" "" "pathogenic (dominant)" "" "0000811349" "0" "90" "3" "139088388" "139088388" "subst" "0" "00006" "COPB2_000008" "g.139088388T>C" "" "{PMID:Marom 2021:34450031}" "" "" "" "De novo" "" "" "0" "" "" "g.139369546T>C" "" "pathogenic (dominant)" "" "0000811350" "0" "90" "3" "139097997" "139097997" "dup" "0" "00006" "COPB2_000009" "g.139097997dup" "" "{PMID:Marom 2021:34450031}" "" "c.247dupG" "" "De novo" "" "" "0" "" "" "g.139379155dup" "" "pathogenic (dominant)" "" "0000811351" "3" "90" "3" "139092642" "139092642" "subst" "4.06964E-6" "00006" "COPB2_000001" "g.139092642G>A" "" "{PMID:DiStasio 2017:29036432}, {PMID:Marom 2021:34450031}" "" "" "" "Germline" "" "" "0" "" "" "g.139373800G>A" "" "pathogenic (recessive)" "" "0000811352" "3" "90" "3" "139092642" "139092642" "subst" "4.06964E-6" "00006" "COPB2_000001" "g.139092642G>A" "" "{PMID:DiStasio 2017:29036432}, {PMID:Marom 2021:34450031}" "" "" "" "Germline" "" "" "0" "" "" "g.139373800G>A" "" "pathogenic (recessive)" "" "0000923847" "0" "70" "3" "139093421" "139093422" "del" "4.07276E-6" "02329" "COPB2_000010" "g.139093421_139093422del" "" "" "" "COPB2(NM_004766.3):c.660_661delAT (p.V222Afs*18)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000948043" "0" "30" "3" "139097902" "139097902" "subst" "0.0067653" "01804" "COPB2_000011" "g.139097902A>G" "" "" "" "COPB2(NM_004766.2):c.342T>C (p.(Ile114=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948044" "0" "30" "3" "139108480" "139108480" "subst" "0" "01804" "COPB2_000012" "g.139108480C>T" "" "" "" "COPB2(NM_004766.2):c.-88G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000975607" "0" "50" "3" "139081299" "139081299" "subst" "0" "01804" "COPB2_000013" "g.139081299G>A" "" "" "" "COPB2(NM_004766.3):c.1945C>T (p.(Leu649Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975608" "0" "50" "3" "139097931" "139097931" "subst" "0" "01804" "COPB2_000014" "g.139097931T>A" "" "" "" "COPB2(NM_004766.3):c.313A>T (p.(Ile105Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000993333" "0" "50" "3" "139092248" "139092248" "subst" "4.06951E-6" "01804" "COPB2_000015" "g.139092248G>A" "" "" "" "COPB2(NM_004766.2):c.901C>T (p.(Arg301Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000993334" "0" "50" "3" "139094323" "139094323" "subst" "1.22146E-5" "01804" "COPB2_000016" "g.139094323A>G" "" "" "" "COPB2(NM_004766.2):c.638T>C (p.(Ile213Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001013821" "0" "50" "3" "139077636" "139077636" "subst" "0" "02325" "COPB2_000017" "g.139077636C>T" "" "" "" "COPB2(NM_004766.3):c.2503G>A (p.V835I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033723" "0" "50" "3" "139077089" "139077091" "del" "0" "01804" "COPB2_000018" "g.139077089_139077091del" "" "" "" "COPB2(NM_004766.3):c.2578_2580del (p.(Pro860del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033724" "0" "30" "3" "139085592" "139085592" "subst" "0.000768887" "01804" "COPB2_000019" "g.139085592G>A" "" "" "" "COPB2(NM_004766.3):c.1702C>T (p.(Pro568Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001033725" "0" "30" "3" "139086977" "139086977" "subst" "0.000162966" "01804" "COPB2_000003" "g.139086977A>T" "" "" "" "COPB2(NM_004766.3):c.1545+10T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001033726" "0" "50" "3" "139086984" "139086984" "subst" "3.332E-5" "01804" "COPB2_000020" "g.139086984T>C" "" "" "" "COPB2(NM_004766.3):c.1545+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033727" "0" "50" "3" "139093378" "139093378" "del" "0" "01804" "COPB2_000021" "g.139093378del" "" "" "" "COPB2(NM_004766.3):c.705del (p.(Ser236Alafs*32))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033728" "0" "50" "3" "139094335" "139094335" "subst" "1.62923E-5" "01804" "COPB2_000022" "g.139094335C>T" "" "" "" "COPB2(NM_004766.3):c.626G>A (p.(Arg209His))" "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 COPB2 ## Count = 24 "{{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}}" "0000282580" "00005524" "30" "4898" "0" "4898" "0" "c.*2177C>T" "r.(=)" "p.(=)" "" "0000719220" "00005524" "30" "7904" "0" "7904" "0" "c.*5183G>A" "r.(=)" "p.(=)" "" "0000719221" "00005524" "50" "7883" "0" "7883" "0" "c.*5162G>A" "r.(=)" "p.(=)" "" "0000801023" "00005524" "30" "1545" "10" "1545" "10" "c.1545+10T>A" "r.(=)" "p.(=)" "" "0000811347" "00005524" "90" "1237" "0" "1238" "0" "c.1237_1238del" "r.(?)" "p.(Lys413AspfsTer3)" "" "0000811348" "00005524" "90" "1906" "0" "1906" "0" "c.1906dup" "r.(?)" "p.(Thr636AsnfsTer7)" "" "0000811349" "00005524" "90" "1206" "-2" "1206" "-2" "c.1206-2A>G" "r.spl" "p.?" "" "0000811350" "00005524" "90" "247" "0" "247" "0" "c.247dup" "r.(?)" "p.(Val83GlyfsTer14)" "" "0000811351" "00005524" "90" "760" "0" "760" "0" "c.760C>T" "r.(?)" "p.(Arg254Cys)" "" "0000811352" "00005524" "90" "760" "0" "760" "0" "c.760C>T" "r.(?)" "p.(Arg254Cys)" "" "0000923847" "00005524" "70" "660" "0" "661" "0" "c.660_661del" "r.(?)" "p.(Val222Alafs*18)" "" "0000948043" "00005524" "30" "342" "0" "342" "0" "c.342T>C" "r.(?)" "p.(=)" "" "0000948044" "00005524" "30" "-88" "0" "-88" "0" "c.-88G>A" "r.(?)" "p.(=)" "" "0000975607" "00005524" "50" "1945" "0" "1945" "0" "c.1945C>T" "r.(?)" "p.(Leu649Phe)" "" "0000975608" "00005524" "50" "313" "0" "313" "0" "c.313A>T" "r.(?)" "p.(Ile105Phe)" "" "0000993333" "00005524" "50" "901" "0" "901" "0" "c.901C>T" "r.(?)" "p.(Arg301Trp)" "" "0000993334" "00005524" "50" "638" "0" "638" "0" "c.638T>C" "r.(?)" "p.(Ile213Thr)" "" "0001013821" "00005524" "50" "2503" "0" "2503" "0" "c.2503G>A" "r.(?)" "p.(Val835Ile)" "" "0001033723" "00005524" "50" "2578" "0" "2580" "0" "c.2578_2580del" "r.(?)" "p.(Pro860del)" "" "0001033724" "00005524" "30" "1702" "0" "1702" "0" "c.1702C>T" "r.(?)" "p.(Pro568Ser)" "" "0001033725" "00005524" "30" "1545" "10" "1545" "10" "c.1545+10T>A" "r.(=)" "p.(=)" "" "0001033726" "00005524" "50" "1545" "3" "1545" "3" "c.1545+3A>G" "r.spl?" "p.?" "" "0001033727" "00005524" "50" "705" "0" "705" "0" "c.705del" "r.(?)" "p.(Ser236Alafs*32)" "" "0001033728" "00005524" "50" "626" "0" "626" "0" "c.626G>A" "r.(?)" "p.(Arg209His)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 6 "{{screeningid}}" "{{variantid}}" "0000384602" "0000811347" "0000384603" "0000811348" "0000384604" "0000811349" "0000384605" "0000811350" "0000384606" "0000811351" "0000384607" "0000811352"