### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CBX3) # 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}}" "CBX3" "chromobox homolog 3" "7" "p15.2" "unknown" "NC_000007.13" "UD_133034107281" "" "https://www.LOVD.nl/CBX3" "" "1" "1553" "11335" "604477" "1" "1" "1" "1" "MANE transcript NM_016587.4\r\nEstablishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/CBX3_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2023-12-26 18:52:09" "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}}" "00004432" "CBX3" "transcript variant 1" "001" "NM_007276.4" "" "NP_009207.2" "" "" "" "-379" "1951" "552" "26240831" "26253227" "" "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" "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 = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00050382" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00444521" "" "" "" "1" "" "00006" "{PMID:Riquin 2023:37495270}" "patient" "F" "" "France" "" "0" "" "" "" "Pat23" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{individualid}}" "{{diseaseid}}" "00050382" "00198" "00444521" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 05611 ## Count = 2 "{{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}}" "0000036994" "00198" "00050382" "00006" "Isolated (sporadic)" "" "intrauterine growth retardation, proportionate short stature, clinodactyly of the 5th finger, webbed neck, epicanthus, intellectual disability mild" "" "" "" "" "" "" "" "" "" "" "" "0000333774" "05611" "00444521" "00006" "Isolated (sporadic)" "02y-10y" "Relative microcephaly -1.5SD, microcephaly relative, Talipes valgus, Strabismus, Moderate global developmental delay, Infantile muscular hypotonia, Hypertrichosis, Epicanthus, Delayed speech and language development, Decreased fetal movement" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorders" "" ## Screenings ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000050327" "00050382" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000446089" "00444521" "1" "00006" "00006" "2023-12-24 18:16:19" "" "" "SEQ-NG;SEQ-NG-RNA" "DNA;RNA" "" "WES, WGS trio, RNA-seq" ## 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 = 19 "{{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}}" "0000079307" "0" "90" "7" "23187650" "32932034" "del" "0" "00006" "ADCYAP1R1_000001" "g.23187650_32932034del" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "decreased gene dosage" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000249972" "0" "10" "7" "26236034" "26236034" "subst" "0.00482077" "02329" "HNRNPA2B1_000010" "g.26236034A>G" "" "" "" "HNRNPA2B1(NM_031243.2):c.681T>C (p.F227=), HNRNPA2B1(NM_031243.3):c.681T>C (p.F227=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26196414A>G" "" "benign" "" "0000250440" "0" "30" "7" "26237504" "26237504" "del" "0" "02329" "HNRNPA2B1_000013" "g.26237504del" "" "" "" "HNRNPA2B1(NM_031243.3):c.7-9delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26197884del" "" "likely benign" "" "0000254063" "0" "30" "7" "26236034" "26236034" "subst" "0.00482077" "01943" "HNRNPA2B1_000010" "g.26236034A>G" "" "" "" "HNRNPA2B1(NM_031243.2):c.681T>C (p.F227=), HNRNPA2B1(NM_031243.3):c.681T>C (p.F227=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26196414A>G" "" "likely benign" "" "0000283419" "0" "30" "7" "26236235" "26236235" "subst" "0.0117877" "02329" "HNRNPA2B1_000011" "g.26236235T>C" "" "" "" "HNRNPA2B1(NM_031243.3):c.555A>G (p.R185=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26196615T>C" "" "likely benign" "" "0000531752" "0" "50" "7" "26236069" "26236069" "subst" "0.000365482" "02329" "CBX3_000001" "g.26236069C>T" "" "" "" "HNRNPA2B1(NM_031243.3):c.646G>A (p.G216S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26196449C>T" "" "VUS" "" "0000531753" "0" "30" "7" "26236286" "26236286" "subst" "0" "02329" "CBX3_000002" "g.26236286G>A" "" "" "" "HNRNPA2B1(NM_031243.3):c.512-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26196666G>A" "" "likely benign" "" "0000531754" "0" "30" "7" "26237229" "26237229" "subst" "0.000417301" "02329" "CBX3_000003" "g.26237229G>A" "" "" "" "HNRNPA2B1(NM_031243.3):c.153+13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26197609G>A" "" "likely benign" "" "0000531755" "0" "10" "7" "26237238" "26237238" "subst" "0.0287464" "01943" "CBX3_000004" "g.26237238A>G" "" "" "" "HNRNPA2B1(NM_002137.4):c.117+4T>C, HNRNPA2B1(NM_031243.2):c.153+4T>C, HNRNPA2B1(NM_031243.3):c.153+4T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26197618A>G" "" "benign" "" "0000531756" "0" "10" "7" "26237238" "26237238" "subst" "0.0287464" "02329" "CBX3_000004" "g.26237238A>G" "" "" "" "HNRNPA2B1(NM_002137.4):c.117+4T>C, HNRNPA2B1(NM_031243.2):c.153+4T>C, HNRNPA2B1(NM_031243.3):c.153+4T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26197618A>G" "" "benign" "" "0000531757" "0" "30" "7" "26237494" "26237494" "subst" "0" "02329" "CBX3_000005" "g.26237494G>A" "" "" "" "HNRNPA2B1(NM_031243.3):c.7-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26197874G>A" "" "likely benign" "" "0000531758" "0" "10" "7" "26237504" "26237504" "dup" "0" "02329" "CBX3_000006" "g.26237504dup" "" "" "" "HNRNPA2B1(NM_031243.3):c.7-9dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26197884dup" "" "benign" "" "0000621875" "0" "30" "7" "26236003" "26236003" "subst" "0.000837803" "02329" "CBX3_000007" "g.26236003G>A" "" "" "" "HNRNPA2B1(NM_031243.3):c.694+18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26196383G>A" "" "likely benign" "" "0000621876" "0" "30" "7" "26237284" "26237284" "subst" "0" "01943" "CBX3_000008" "g.26237284C>T" "" "" "" "HNRNPA2B1(NM_031243.2):c.111G>A (p.L37=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26197664C>T" "" "likely benign" "" "0000678085" "0" "30" "7" "26237017" "26237017" "subst" "0" "01943" "CBX3_000009" "g.26237017G>C" "" "" "" "HNRNPA2B1(NM_031243.2):c.218C>G (p.A73G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887830" "0" "30" "7" "26236003" "26236003" "subst" "0.000837803" "02326" "CBX3_000007" "g.26236003G>A" "" "" "" "HNRNPA2B1(NM_031243.3):c.694+18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912729" "0" "50" "7" "26246057" "26246057" "subst" "0" "02327" "CBX3_000010" "g.26246057G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000954340" "0" "70" "7" "26244486" "26248316" "del" "0" "00006" "CBX3_000011" "g.26244486_26248316del" "" "{PMID:Riquin 2023:37495270}" "" "" "strong candidate gene/variant" "De novo" "" "" "0" "" "" "g.26204866_26208696del" "" "VUS" "ACMG" "0001036331" "0" "30" "7" "26237238" "26237238" "subst" "0.0287464" "01804" "CBX3_000004" "g.26237238A>G" "" "" "" "HNRNPA2B1(NM_002137.4):c.117+4T>C, HNRNPA2B1(NM_031243.2):c.153+4T>C, HNRNPA2B1(NM_031243.3):c.153+4T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## 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 CBX3 ## Count = 19 "{{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}}" "0000079307" "00004432" "00" "-3053560" "0" "6680758" "0" "c.-3053560_*6680206del" "r.0?" "p.0?" "" "0000249972" "00004432" "10" "-5176" "0" "-5176" "0" "c.-5176A>G" "r.(?)" "p.(=)" "" "0000250440" "00004432" "30" "-3706" "0" "-3706" "0" "c.-3706del" "r.(?)" "p.(=)" "" "0000254063" "00004432" "30" "-5176" "0" "-5176" "0" "c.-5176A>G" "r.(?)" "p.(=)" "" "0000283419" "00004432" "30" "-4975" "0" "-4975" "0" "c.-4975T>C" "r.(?)" "p.(=)" "" "0000531752" "00004432" "50" "-5141" "0" "-5141" "0" "c.-5141C>T" "r.(?)" "p.(=)" "" "0000531753" "00004432" "30" "-4924" "0" "-4924" "0" "c.-4924G>A" "r.(?)" "p.(=)" "" "0000531754" "00004432" "30" "-3981" "0" "-3981" "0" "c.-3981G>A" "r.(?)" "p.(=)" "" "0000531755" "00004432" "10" "-3972" "0" "-3972" "0" "c.-3972A>G" "r.(?)" "p.(=)" "" "0000531756" "00004432" "10" "-3972" "0" "-3972" "0" "c.-3972A>G" "r.(?)" "p.(=)" "" "0000531757" "00004432" "30" "-3716" "0" "-3716" "0" "c.-3716G>A" "r.(?)" "p.(=)" "" "0000531758" "00004432" "10" "-3706" "0" "-3706" "0" "c.-3706dup" "r.(?)" "p.(=)" "" "0000621875" "00004432" "30" "-5207" "0" "-5207" "0" "c.-5207G>A" "r.(?)" "p.(=)" "" "0000621876" "00004432" "30" "-3926" "0" "-3926" "0" "c.-3926C>T" "r.(?)" "p.(=)" "" "0000678085" "00004432" "30" "-4193" "0" "-4193" "0" "c.-4193G>C" "r.(?)" "p.(=)" "" "0000887830" "00004432" "30" "-5207" "0" "-5207" "0" "c.-5207G>A" "r.(?)" "p.(=)" "" "0000912729" "00004432" "50" "94" "0" "94" "0" "c.94G>A" "r.(?)" "p.(Val32Met)" "" "0000954340" "00004432" "70" "25" "-1502" "330" "141" "c.25-1502_330+141del" "r.25_330del" "p.?" "" "0001036331" "00004432" "30" "-3972" "0" "-3972" "0" "c.-3972A>G" "r.(?)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{variantid}}" "0000050327" "0000079307" "0000446089" "0000954340"