### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ZBTB24) # 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}}" "ZBTB24" "zinc finger and BTB domain containing 24" "6" "q21" "unknown" "LRG_326" "UD_130736550178" "" "https://www.LOVD.nl/ZBTB24" "" "1" "21143" "9841" "614064" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/ZBTB24_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2011-06-06 00:00:00" "00006" "2019-06-28 16:58:46" "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}}" "00023033" "ZBTB24" "transcript variant 1" "001" "NM_014797.2" "" "NP_055612.2" "" "" "" "-168" "5429" "2094" "109804440" "109783719" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{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" "00622" "ICF2" "immunodeficiency-centromeric instability-facial anomalies syndrome, type 2 (ICF-2)" "AR" "614069" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04273" "ICF" "immunodeficiency-centromeric instability-facial anomalies syndrome (ICF)" "" "" "" "" "" "00006" "2015-05-18 08:56:14" "" "" "05793" "IMD74" "immunodeficiency, type 74, COVID19-related, X-linked" "XLR" "301051" "" "" "" "00006" "2020-07-24 22:16:50" "00006" "2025-08-26 15:50:59" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "ZBTB24" "00139" "ZBTB24" "00622" "ZBTB24" "04273" ## Individuals ## Do not remove or alter this header ## ## Count = 19 "{{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}}" "00038666" "" "" "" "1" "" "01302" "{PMID:de Greef 2011:21596365}" "" "" "yes" "Turkey" "" "0" "" "" "" "" "00038667" "" "" "" "1" "" "01302" "{PMID:de Greef 2011:21596365}" "" "" "yes" "United Kingdom (Great Britain)" "" "0" "" "" "Scotland" "" "00038668" "" "" "" "1" "" "01302" "{PMID:de Greef 2011:21596365}" "" "" "yes" "Turkey" "" "0" "" "" "" "" "00038669" "" "" "" "1" "" "01302" "{PMID:de Greef 2011:21596365}" "" "" "yes" "Turkey" "" "0" "" "" "" "" "00038670" "" "" "" "1" "" "01302" "{PMID:de Greef 2011:21596365}" "" "" "yes" "Italy" "" "0" "" "" "" "" "00038671" "" "" "" "1" "" "01302" "{PMID:de Greef 2011:21596365}" "" "" "no" "Germany" "" "0" "" "" "" "" "00038672" "" "" "" "3" "" "01302" "{PMID:Chouery 2012:21906047}" "family, 3 affected brothers" "M" "yes" "Lebanon" "" "0" "" "" "" "" "00038673" "" "" "" "1" "" "00006" "{PMID:Cerbone 2012:22786748}" "" "M" "no" "Morocco" "" "0" "" "" "" "" "00038697" "" "" "" "1" "" "01301" "" "" "M" "yes" "Turkey" "" "0" "" "" "" "" "00100253" "" "" "" "1" "" "01553" "{PMID:van den Boogaard 2017:28128455}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "Turkey" "" "0" "" "IVIG" "" "Rf1225-2.1" "00100254" "" "" "" "1" "" "01553" "{PMID:van den Boogaard 2017:28128455}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "Turkey" "" "0" "" "IVIG" "" "Rf1461-2.1" "00100256" "" "" "" "1" "" "01553" "{PMID:van den Boogaard 2017:28128455}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "Turkey" "" "0" "" "IVIG" "" "Rf1462-2.1" "00100257" "" "" "" "1" "" "01553" "{PMID:van den Boogaard 2017:28128455}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "Italy" "" "0" "" "IVIG" "" "Rf1759B-2.1" "00100259" "" "" "" "1" "" "01553" "{PMID:van den Boogaard 2017:28128455}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "" "" "0" "" "IVIG" "" "Rf1875-2.2" "00293953" "" "" "" "5" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00320349" "" "" "" "1" "" "00006" "{PMID:Diaz 2020:32409512}" "" "F" "" "United States" "" "0" "" "" "" "Pat1" "00334319" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334492" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00335027" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 19 "{{individualid}}" "{{diseaseid}}" "00038666" "00622" "00038667" "00622" "00038668" "00622" "00038669" "00622" "00038670" "00622" "00038671" "00622" "00038672" "00622" "00038673" "00622" "00038697" "00622" "00100253" "00622" "00100254" "00622" "00100256" "00622" "00100257" "00622" "00100259" "00622" "00293953" "00198" "00320349" "00139" "00334319" "05793" "00334492" "05793" "00335027" "05793" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 00622, 04273, 05793 ## Count = 18 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Birth/Weight}}" "{{Phenotype/Infections/Recurrent}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Development_delay_global/HPO_0001263}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Intellectual_dis/HPO_0001249}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000029061" "00622" "00038666" "01302" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029062" "00622" "00038667" "01302" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029063" "00622" "00038668" "01302" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029064" "00622" "00038669" "01302" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029065" "00622" "00038670" "01302" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029066" "00622" "00038671" "01302" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029067" "00622" "00038672" "01302" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029068" "00622" "00038673" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029092" "00622" "00038697" "01301" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000078577" "00622" "00100253" "01553" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000078578" "00622" "00100254" "01553" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000078579" "00622" "00100256" "01553" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000078580" "00622" "00100257" "01553" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000078581" "00622" "00100259" "01553" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000242362" "00139" "00320349" "00006" "Isolated (sporadic)" "11y5m" "no neonatal course; severe developmental delay/intellectual disability; autism spectrum disorder; 3.5y-walk; speech few words; developmental regression; hand stereotypies; no epilepsy; hypotonia; MRI brain normal; coarse facies; height -0.4SD, BMI 38.1 (obese), OFC +2.7SD; skin Blaschkoid pigmentary mosaicism; no umbilical hernia; no orthopedic anomalies; no strabismus; hepatomegaly; recurrent otitis media; clinical suspicion for lysosomal storage disorder" "" "" "" "" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000253129" "05793" "00334319" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253205" "05793" "00334492" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253309" "05793" "00335027" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "" "" "" "" "COVID-19" "" ## Screenings ## Do not remove or alter this header ## ## Count = 19 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000038902" "00038666" "1" "01302" "00006" "2011-06-06 15:29:00" "01302" "2012-10-18 16:08:25" "SEQ" "DNA" "" "" "0000038903" "00038667" "1" "01302" "00006" "2011-06-06 15:25:26" "01302" "2012-10-18 16:08:25" "SEQ" "DNA" "" "" "0000038904" "00038668" "1" "01302" "00006" "2011-06-06 15:30:56" "01302" "2012-10-18 16:08:25" "SEQ" "DNA" "" "" "0000038905" "00038669" "1" "01302" "00006" "2011-06-06 15:27:39" "01302" "2012-10-18 16:08:25" "SEQ" "DNA" "" "" "0000038906" "00038670" "1" "01302" "00006" "2011-06-06 15:23:09" "01302" "2012-10-18 16:08:25" "SEQ" "DNA" "" "" "0000038907" "00038671" "1" "01302" "00006" "2011-06-06 15:34:59" "01302" "2012-10-18 16:08:25" "SEQ" "DNA" "" "" "0000038908" "00038672" "1" "01302" "00006" "2011-09-13 16:56:38" "01302" "2012-10-18 16:08:25" "SEQ" "DNA" "" "" "0000038909" "00038673" "1" "00006" "00006" "2012-10-16 16:00:46" "00006" "2012-10-18 16:08:25" "SEQ" "DNA" "" "" "0000038933" "00038697" "1" "01301" "01301" "2013-02-04 11:55:00" "01301" "2013-02-04 11:55:50" "PCR;SEQ" "DNA" "" "" "0000100656" "00100253" "1" "01553" "01553" "2017-02-09 11:49:41" "" "" "SEQ" "DNA" "" "" "0000100657" "00100254" "1" "01553" "01553" "2017-02-09 11:52:22" "" "" "SEQ" "DNA" "" "" "0000100659" "00100256" "1" "01553" "01553" "2017-02-09 11:56:12" "" "" "SEQ" "DNA" "" "" "0000100660" "00100257" "1" "01553" "01553" "2017-02-09 11:59:20" "" "" "SEQ" "DNA" "" "" "0000100662" "00100259" "1" "01553" "01553" "2017-02-09 12:10:48" "" "" "arrayCNV" "DNA" "" "" "0000295121" "00293953" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000321535" "00320349" "1" "00006" "00006" "2020-11-27 13:30:34" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000335547" "00334319" "1" "04011" "04011" "2021-02-27 14:06:51" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000335721" "00334492" "1" "04011" "04011" "2021-03-01 06:15:56" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000336256" "00335027" "1" "04011" "04011" "2021-03-03 04:02:14" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 14 "{{screeningid}}" "{{geneid}}" "0000038902" "ZBTB24" "0000038903" "ZBTB24" "0000038904" "ZBTB24" "0000038905" "ZBTB24" "0000038906" "ZBTB24" "0000038907" "ZBTB24" "0000038908" "ZBTB24" "0000038909" "ZBTB24" "0000038933" "ZBTB24" "0000100656" "ZBTB24" "0000100657" "ZBTB24" "0000100659" "ZBTB24" "0000100660" "ZBTB24" "0000321535" "TFE3" ## 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 = 56 "{{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}}" "0000066710" "3" "90" "6" "109802314" "109802314" "del" "0" "01302" "ZBTB24_000001" "g.109802314del" "" "{PMID:de Greef 2011:21596365}" "" "" "" "Germline" "" "" "0" "" "" "g.109481111del" "" "pathogenic" "" "0000066711" "3" "90" "6" "109803183" "109803183" "subst" "4.07647E-6" "01302" "ZBTB24_000002" "g.109803183G>C" "" "{PMID:de Greef 2011:21596365}" "" "" "" "Germline" "" "" "0" "" "" "g.109481980G>C" "" "pathogenic" "" "0000066712" "3" "90" "6" "109798128" "109798128" "subst" "4.0705E-6" "01302" "ZBTB24_000003" "g.109798128G>A" "" "{PMID:de Greef 2011:21596365}" "" "" "" "Germline" "" "" "0" "" "" "g.109476925G>A" "" "pathogenic" "" "0000066713" "3" "90" "6" "109802735" "109802735" "dup" "0" "01302" "ZBTB24_000004" "g.109802735dup" "" "{PMID:de Greef 2011:21596365}" "" "" "" "Germline" "" "" "0" "" "" "g.109481532dup" "" "pathogenic" "" "0000066714" "3" "90" "6" "109788857" "109788857" "subst" "1.2184E-5" "01302" "ZBTB24_000005" "g.109788857G>A" "" "{PMID:de Greef 2011:21596365}" "" "" "" "Germline" "" "" "0" "" "" "g.109467654G>A" "" "pathogenic" "" "0000066715" "0" "90" "6" "109802397" "109802397" "subst" "0" "01302" "ZBTB24_000006" "g.109802397G>C" "" "{PMID:de Greef 2011:21596365}" "" "" "" "Germline" "" "" "0" "" "" "g.109481194G>C" "" "pathogenic" "" "0000066716" "3" "90" "6" "109802834" "109802835" "del" "0" "01302" "ZBTB24_000008" "g.109802834_109802835del" "" "{PMID:Chouery 2012:21906047}" "" "396_397delTA" "" "Germline" "" "" "0" "" "" "g.109481631_109481632del" "" "pathogenic" "" "0000066717" "3" "90" "6" "109796668" "109796668" "subst" "2.03136E-5" "00006" "ZBTB24_000007" "g.109796668A>C" "" "{PMID:Cerbone 2012:22786748}" "" "" "" "Germline" "" "" "0" "" "" "g.109475465A>C" "" "pathogenic" "" "0000066741" "3" "90" "6" "109802471" "109802471" "subst" "0" "01301" "ZBTB24_000009" "g.109802471G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.109481268G>C" "" "pathogenic" "" "0000066742" "0" "90" "6" "109796668" "109796668" "subst" "2.03136E-5" "00006" "ZBTB24_000007" "g.109796668A>C" "" "{PMID:de Greef 2011:21596365}" "" "" "" "Germline" "" "" "0" "" "" "g.109475465A>C" "" "pathogenic" "" "0000162964" "3" "90" "6" "109802314" "109802314" "del" "0" "01553" "ZBTB24_000011" "g.109802314del" "" "{PMID:van den Boogaard 2017:28128455}" "" "" "" "Germline" "" "" "0" "" "" "g.109481111del" "" "pathogenic" "" "0000162965" "3" "90" "6" "109802314" "109802314" "del" "0" "01553" "ZBTB24_000011" "g.109802314del" "" "{PMID:van den Boogaard 2017:28128455}" "" "" "" "Germline" "" "" "0" "" "" "g.109481111del" "" "pathogenic" "" "0000162967" "3" "90" "6" "109802314" "109802314" "del" "0" "01553" "ZBTB24_000011" "g.109802314del" "" "{PMID:van den Boogaard 2017:28128455}" "" "" "" "Germline" "" "" "0" "" "" "g.109481111del" "" "pathogenic" "" "0000162968" "3" "90" "6" "109802323" "109802323" "dup" "0" "01553" "ZBTB24_000010" "g.109802323dup" "" "{PMID:van den Boogaard 2017:28128455}" "" "" "" "Germline" "" "rs770082593" "0" "" "" "g.109481120dup" "" "pathogenic" "" "0000162970" "3" "90" "6" "109740389" "110012705" "" "0" "01553" "ZBTB24_000023" "g.(109724312_109740389)_(110012705_110036280)del" "" "{PMID:van den Boogaard 2017:28128455}" "" "g.109734377_110024284del" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000256100" "0" "50" "6" "109787460" "109787460" "subst" "0.000789947" "01943" "ZBTB24_000014" "g.109787460A>G" "" "" "" "ZBTB24(NM_014797.2):c.1688T>C (p.I563T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109466257A>G" "" "VUS" "" "0000320104" "0" "30" "6" "109787476" "109787476" "subst" "0.00260671" "01943" "ZBTB24_000015" "g.109787476C>T" "" "" "" "ZBTB24(NM_014797.2):c.1672G>A (p.D558N, p.(Asp558Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109466273C>T" "" "likely benign" "" "0000320105" "0" "90" "6" "109798128" "109798128" "subst" "4.0705E-6" "01943" "ZBTB24_000003" "g.109798128G>A" "" "" "" "ZBTB24(NM_014797.2):c.958C>T (p.R320*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109476925G>A" "" "pathogenic" "" "0000331157" "0" "50" "6" "109766147" "109766147" "subst" "0" "01804" "MICAL1_000001" "g.109766147A>G" "" "" "" "MICAL1(NM_001159291.1):c.2675T>C (p.(Val892Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109444944A>G" "" "VUS" "" "0000331158" "0" "50" "6" "109771215" "109771215" "subst" "0.00021127" "01804" "MICAL1_000002" "g.109771215C>T" "" "" "" "MICAL1(NM_001159291.1):c.1007G>A (p.(Arg336Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109450012C>T" "" "VUS" "" "0000331160" "0" "30" "6" "109787476" "109787476" "subst" "0.00260671" "01804" "ZBTB24_000015" "g.109787476C>T" "" "" "" "ZBTB24(NM_014797.2):c.1672G>A (p.D558N, p.(Asp558Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109466273C>T" "" "likely benign" "" "0000331163" "0" "50" "6" "109802475" "109802475" "subst" "0.000105576" "01804" "ZBTB24_000018" "g.109802475C>T" "" "" "" "ZBTB24(NM_001164313.1):c.755G>A (p.(Arg252Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109481272C>T" "" "VUS" "" "0000331165" "0" "50" "6" "109803174" "109803174" "subst" "0" "01804" "ZBTB24_000020" "g.109803174T>G" "" "" "" "ZBTB24(NM_001164313.1):c.56A>C (p.(His19Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109481971T>G" "" "VUS" "" "0000455662" "0" "30" "6" "109787691" "109787691" "subst" "0.000345245" "03192" "ZBTB24_000022" "g.109787691C>T" "" "Daxinger, in preparation 2019" "" "" "Ty1_ZBTB24 variant construct expressed in mESCs restored luciferase activity of target promoter, ChIP-qPCR did not show impaired binding to target promoter; experiments suggest variant is likely neutral" "In vitro (cloned)" "" "" "0" "" "" "g.109466488C>T" "" "NA" "" "0000455663" "0" "30" "6" "109802778" "109802778" "subst" "0" "03192" "ZBTB24_000029" "g.109802778G>C" "" "Daxinger, in preparation 2019" "" "" "Ty1_ZBTB24 variant construct expressed in mESCs restored luciferase activity of target promoter, ChIP-qPCR did not show impaired binding to target promoter; experiments suggest variant is likely neutral" "In vitro (cloned)" "" "" "0" "" "" "g.109481575G>C" "" "NA" "" "0000455664" "0" "30" "6" "109802745" "109802745" "subst" "1.21836E-5" "03192" "ZBTB24_000030" "g.109802745C>T" "" "Daxinger, in preparation 2019" "" "" "Ty1_ZBTB24 variant construct expressed in mESCs restored luciferase activity of target promoter, ChIP-qPCR did not show impaired binding to target promoter; experiments suggest variant is likely neutral" "In vitro (cloned)" "" "" "0" "" "" "g.109481542C>T" "" "NA" "" "0000455665" "0" "90" "6" "109796618" "109796618" "subst" "4.06091E-6" "03192" "ZBTB24_000024" "g.109796618A>T" "" "Daxinger, in preparation 2019" "" "" "Ty1_ZBTB24 variant construct expressed in mESCs could not restore luciferase activity of target promoter, ChIP-qPCR showed impaired binding to target promoter; experiments suggest variant is likely to be pathogenic" "In vitro (cloned)" "" "" "0" "" "" "g.109475415A>T" "" "NA" "" "0000455666" "0" "90" "6" "109787710" "109787710" "subst" "4.06296E-6" "03192" "ZBTB24_000025" "g.109787710G>A" "" "Daxinger, in preparation 2019" "" "" "Ty1_ZBTB24 variant construct expressed in mESCs could not restore luciferase activity of target promoter, ChIP-qPCR showed impaired binding to target promoter; experiments suggest variant is likely to be pathogenic" "In vitro (cloned)" "" "" "0" "" "" "g.109466507G>A" "" "NA" "" "0000455667" "0" "30" "6" "109803084" "109803084" "subst" "0.00667593" "03192" "ZBTB24_000026" "g.109803084C>T" "" "Daxinger, in preparation 2019" "" "" "Ty1_ZBTB24 variant construct expressed in mESCs restored luciferase activity of target promoter, ChIP-qPCR did not show impaired binding to target promoter; experiments suggest variant is likely neutral" "In vitro (cloned)" "" "" "0" "" "" "g.109481881C>T" "" "NA" "" "0000455668" "0" "30" "6" "109787596" "109787596" "subst" "0.0290345" "03192" "ZBTB24_000027" "g.109787596C>T" "" "Daxinger, in preparation 2019" "" "" "Ty1_ZBTB24 variant construct expressed in mESCs restored luciferase activity of target promoter, ChIP-qPCR did not show impaired binding to target promoter; experiments suggest variant is likely neutral" "In vitro (cloned)" "" "" "0" "" "" "g.109466393C>T" "" "NA" "" "0000455669" "0" "30" "6" "109787476" "109787476" "subst" "0.00260671" "03192" "ZBTB24_000015" "g.109787476C>T" "" "Daxinger, in preparation 2019" "" "" "Ty1_ZBTB24 variant construct expressed in mESCs restored luciferase activity of target promoter, ChIP-qPCR did not show impaired binding to target promoter; experiments suggest variant is likely neutral" "In vitro (cloned)" "" "" "0" "" "" "g.109466273C>T" "" "NA" "" "0000455670" "0" "90" "6" "109797434" "109797434" "subst" "0" "03192" "ZBTB24_000028" "g.109797434C>T" "" "Daxinger, in preparation 2019" "" "" "Ty1_ZBTB24 variant construct expressed in mESCs could not restore luciferase activity of target promoter, ChIP-qPCR showed impaired binding to target promoter; experiments suggest variant is likely to be pathogenic" "In vitro (cloned)" "" "" "0" "" "" "g.109476231C>T" "" "NA" "" "0000455671" "0" "90" "6" "109796668" "109796668" "subst" "2.03136E-5" "03192" "ZBTB24_000007" "g.109796668A>C" "" "Daxinger, in preparation 2019" "" "" "Ty1_ZBTB24 variant construct expressed in mESCs could not restore luciferase activity of target promoter, ChIP-qPCR showed impaired binding to target promoter; experiments suggest variant is likely to be pathogenic" "In vitro (cloned)" "" "" "0" "" "" "g.109475465A>C" "" "NA" "" "0000526637" "0" "50" "6" "109787446" "109787446" "subst" "0.000215812" "01943" "MICAL1_000004" "g.109787446C>T" "" "" "" "ZBTB24(NM_014797.2):c.1702G>A (p.G568S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.109466243C>T" "" "VUS" "" "0000526639" "0" "50" "6" "109787647" "109787647" "subst" "8.12295E-6" "01943" "MICAL1_000005" "g.109787647G>A" "" "" "" "ZBTB24(NM_014797.2):c.1501C>T (p.R501C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.109466444G>A" "" "VUS" "" "0000526642" "0" "30" "6" "109796621" "109796621" "subst" "2.03046E-5" "01943" "ZBTB24_000031" "g.109796621T>C" "" "" "" "ZBTB24(NM_014797.2):c.1269A>G (p.K423=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.109475418T>C" "" "likely benign" "" "0000526645" "0" "30" "6" "109802849" "109802849" "subst" "1.21824E-5" "02326" "ZBTB24_000034" "g.109802849G>A" "" "" "" "ZBTB24(NM_014797.2):c.381C>T (p.D127=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.109481646G>A" "" "likely benign" "" "0000526647" "0" "50" "6" "109803109" "109803109" "subst" "8.12236E-6" "01943" "ZBTB24_000035" "g.109803109A>C" "" "" "" "ZBTB24(NM_014797.2):c.121T>G (p.L41V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.109481906A>C" "" "VUS" "" "0000609900" "0" "30" "6" "109787070" "109787070" "subst" "0.000146188" "01943" "MICAL1_000008" "g.109787070C>T" "" "" "" "ZBTB24(NM_014797.2):c.2078G>A (p.G693D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.109465867C>T" "" "likely benign" "" "0000609901" "0" "50" "6" "109787772" "109787772" "subst" "2.46518E-5" "01943" "MICAL1_000007" "g.109787772T>C" "" "" "" "ZBTB24(NM_014797.2):c.1376A>G (p.E459G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.109466569T>C" "" "VUS" "" "0000609902" "0" "30" "6" "109797433" "109797433" "subst" "0.000186832" "01943" "ZBTB24_000036" "g.109797433G>A" "" "" "" "ZBTB24(NM_014797.2):c.1149C>T (p.C383=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.109476230G>A" "" "likely benign" "" "0000651810" "1" "50" "6" "109803084" "109803084" "subst" "0.00667593" "03575" "ZBTB24_000026" "g.109803084C>T" "5/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 5 heterozygous, no homozygous; {DB:CLININrs147441359}" "Germline" "" "rs147441359" "0" "" "" "g.109481881C>T" "" "VUS" "" "0000677587" "0" "50" "6" "109787613" "109787613" "subst" "0" "01943" "MICAL1_000009" "g.109787613T>C" "" "" "" "ZBTB24(NM_014797.2):c.1535A>G (p.H512R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000677588" "0" "30" "6" "109788960" "109788965" "del" "0" "02326" "MICAL1_000010" "g.109788960_109788965del" "" "" "" "ZBTB24(NM_014797.2):c.1289-11_1289-6delGTTTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689600" "0" "50" "6" "109802347" "109802347" "subst" "2.43635E-5" "02325" "ZBTB24_000037" "g.109802347G>A" "" "" "" "ZBTB24(NM_014797.3):c.883C>T (p.R295C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000704425" "0" "50" "6" "109802313" "109802313" "subst" "1.62423E-5" "00006" "ZBTB24_000038" "g.109802313T>C" "" "{PMID:Diaz 2020:32409512}" "" "" "" "De novo" "" "" "0" "" "" "" "" "VUS" "" "0000720622" "0" "50" "6" "109798013" "109798013" "subst" "2.85128E-5" "01943" "ZBTB24_000039" "g.109798013G>C" "" "" "" "ZBTB24(NM_014797.2):c.1073C>G (p.A358G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000734053" "0" "70" "6" "109802866" "109802866" "subst" "0" "04011" "ZBTB24_000040" "g.109802866C>T" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000734490" "0" "70" "6" "109802475" "109802475" "subst" "0.000105576" "04011" "ZBTB24_000018" "g.109802475C>T" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000735480" "0" "70" "6" "109787643" "109787643" "subst" "4.06131E-6" "04011" "ZBTB24_000041" "g.109787643A>G" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000929128" "0" "30" "6" "109802447" "109802447" "subst" "0.000194908" "02326" "ZBTB24_000042" "g.109802447G>A" "" "" "" "ZBTB24(NM_014797.2):c.783C>T (p.S261=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976920" "0" "30" "6" "109774960" "109774960" "subst" "0.00148404" "01804" "MICAL1_000012" "g.109774960C>T" "" "" "" "MICAL1(NM_022765.4):c.347G>A (p.(Arg116His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995242" "0" "30" "6" "109763831" "109763831" "subst" "0.00250554" "01804" "MICAL1_000013" "g.109763831G>C" "" "" "" "SMPD2(NM_003080.2):c.491+3G>C (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995243" "0" "30" "6" "109765437" "109765437" "subst" "5.2858E-5" "01804" "MICAL1_000014" "g.109765437C>T" "" "" "" "MICAL1(NM_022765.3):c.3161G>A (p.(Arg1054His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001035401" "0" "50" "6" "109763466" "109763469" "del" "0" "01804" "MICAL1_000015" "g.109763466_109763469del" "" "" "" "SMPD2(NM_003080.3):c.372_375del (p.(His124Glnfs*10))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035402" "0" "30" "6" "109764622" "109764622" "subst" "0.000170919" "01804" "MICAL1_000016" "g.109764622C>T" "" "" "" "SMPD2(NM_003080.3):c.882C>T (p.(His294=))" "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 ZBTB24 ## Count = 56 "{{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}}" "0000066710" "00023033" "90" "917" "0" "917" "0" "c.917del" "r.(?)" "p.(Asn306Ilefs*4)" "2" "0000066711" "00023033" "90" "47" "0" "47" "0" "c.47C>G" "r.(?)" "p.(Ser16*)" "2" "0000066712" "00023033" "90" "958" "0" "958" "0" "c.958C>T" "r.(?)" "p.(Arg320*)" "3" "0000066713" "00023033" "90" "501" "0" "501" "0" "c.501dup" "r.(?)" "p.(Val168Serfs*28)" "2" "0000066714" "00023033" "90" "1369" "0" "1369" "0" "c.1369C>T" "r.(?)" "p.(Arg457*)" "6" "0000066715" "00023033" "90" "833" "0" "833" "0" "c.833C>G" "r.(?)" "p.(Ser278*)" "2" "0000066716" "00023033" "90" "396" "0" "397" "0" "c.396_397del" "r.(?)" "p.(His132Glnfs*20)" "2" "0000066717" "00023033" "90" "1222" "0" "1222" "0" "c.1222T>G" "r.(?)" "p.(Cys408Gly)" "5" "0000066741" "00023033" "90" "759" "0" "759" "0" "c.759C>G" "r.(?)" "p.(Tyr253*)" "2" "0000066742" "00023033" "90" "1222" "0" "1222" "0" "c.1222T>G" "r.(?)" "p.(Cys408Gly)" "5" "0000162964" "00023033" "90" "917" "0" "917" "0" "c.917del" "r.(?)" "p.(Asn306Ilefs*4)" "2" "0000162965" "00023033" "90" "917" "0" "917" "0" "c.917del" "r.(?)" "p.(Asn306Ilefs*4)" "2" "0000162967" "00023033" "90" "917" "0" "917" "0" "c.917del" "r.(?)" "p.(Asn306Ilefs*4)" "2" "0000162968" "00023033" "90" "909" "0" "909" "0" "c.909dup" "r.(?)" "p.(Lys304*)" "2" "0000162970" "00023033" "90" "-1" "0" "2095" "0" "c.(?_-1)_(*1_?)del" "r.0" "p.0" "_1_7_" "0000256100" "00023033" "50" "1688" "0" "1688" "0" "c.1688T>C" "r.(?)" "p.(Ile563Thr)" "" "0000320104" "00023033" "30" "1672" "0" "1672" "0" "c.1672G>A" "r.(?)" "p.(Asp558Asn)" "" "0000320105" "00023033" "90" "958" "0" "958" "0" "c.958C>T" "r.(?)" "p.(Arg320Ter)" "" "0000331157" "00023033" "50" "23001" "0" "23001" "0" "c.*20907T>C" "r.(=)" "p.(=)" "" "0000331158" "00023033" "50" "17933" "0" "17933" "0" "c.*15839G>A" "r.(=)" "p.(=)" "" "0000331160" "00023033" "30" "1672" "0" "1672" "0" "c.1672G>A" "r.(?)" "p.(Asp558Asn)" "" "0000331163" "00023033" "50" "755" "0" "755" "0" "c.755G>A" "r.(?)" "p.(Arg252Gln)" "" "0000331165" "00023033" "50" "56" "0" "56" "0" "c.56A>C" "r.(?)" "p.(His19Pro)" "" "0000455662" "00023033" "30" "1457" "0" "1457" "0" "c.1457G>A" "r.(?)" "p.Gly486Asp" "" "0000455663" "00023033" "30" "452" "0" "452" "0" "c.452C>G" "r.(?)" "p.Ser151Cys" "" "0000455664" "00023033" "30" "485" "0" "485" "0" "c.485G>A" "r.(?)" "p.Arg162Gln" "" "0000455665" "00023033" "90" "1272" "0" "1272" "0" "c.1272T>A" "r.(?)" "p.His424Gln" "" "0000455666" "00023033" "90" "1438" "0" "1438" "0" "c.1438C>T" "r.(?)" "p.His480Tyr" "" "0000455667" "00023033" "30" "146" "0" "146" "0" "c.146G>A" "r.(?)" "p.Arg49Gln" "" "0000455668" "00023033" "30" "1552" "0" "1552" "0" "c.1552G>A" "r.(?)" "p.Ala518Thr" "" "0000455669" "00023033" "30" "1672" "0" "1672" "0" "c.1672G>A" "r.(?)" "p.Asp558Asn" "" "0000455670" "00023033" "90" "1148" "0" "1148" "0" "c.1148G>A" "r.(?)" "p.Cys383Tyr" "" "0000455671" "00023033" "90" "1222" "0" "1222" "0" "c.1222T>G" "r.(?)" "p.Cys408Gly" "" "0000526637" "00023033" "50" "1702" "0" "1702" "0" "c.1702G>A" "r.(?)" "p.(Gly568Ser)" "" "0000526639" "00023033" "50" "1501" "0" "1501" "0" "c.1501C>T" "r.(?)" "p.(Arg501Cys)" "" "0000526642" "00023033" "30" "1269" "0" "1269" "0" "c.1269A>G" "r.(?)" "p.(Lys423=)" "" "0000526645" "00023033" "30" "381" "0" "381" "0" "c.381C>T" "r.(?)" "p.(Asp127=)" "" "0000526647" "00023033" "50" "121" "0" "121" "0" "c.121T>G" "r.(?)" "p.(Leu41Val)" "" "0000609900" "00023033" "30" "2078" "0" "2078" "0" "c.2078G>A" "r.(?)" "p.(Gly693Asp)" "" "0000609901" "00023033" "50" "1376" "0" "1376" "0" "c.1376A>G" "r.(?)" "p.(Glu459Gly)" "" "0000609902" "00023033" "30" "1149" "0" "1149" "0" "c.1149C>T" "r.(?)" "p.(Cys383=)" "" "0000651810" "00023033" "50" "146" "0" "146" "0" "c.146G>A" "r.(?)" "p.(Arg49Gln)" "" "0000677587" "00023033" "50" "1535" "0" "1535" "0" "c.1535A>G" "r.(?)" "p.(His512Arg)" "" "0000677588" "00023033" "30" "1289" "-11" "1289" "-6" "c.1289-11_1289-6del" "r.(=)" "p.(=)" "" "0000689600" "00023033" "50" "883" "0" "883" "0" "c.883C>T" "r.(?)" "p.(Arg295Cys)" "" "0000704425" "00023033" "50" "917" "0" "917" "0" "c.917A>G" "r.(?)" "p.(Asn306Ser)" "" "0000720622" "00023033" "50" "1073" "0" "1073" "0" "c.1073C>G" "r.(?)" "p.(Ala358Gly)" "" "0000734053" "00023033" "50" "364" "0" "364" "0" "c.364G>A" "r.(?)" "p.(Val122Ile)" "" "0000734490" "00023033" "50" "755" "0" "755" "0" "c.755G>A" "r.(?)" "p.(Arg252Gln)" "" "0000735480" "00023033" "50" "1505" "0" "1505" "0" "c.1505T>C" "r.(?)" "p.(Leu502Ser)" "" "0000929128" "00023033" "30" "783" "0" "783" "0" "c.783C>T" "r.(?)" "p.(=)" "" "0000976920" "00023033" "30" "14188" "0" "14188" "0" "c.*12094G>A" "r.(=)" "p.(=)" "" "0000995242" "00023033" "30" "25317" "0" "25317" "0" "c.*23223C>G" "r.(=)" "p.(=)" "" "0000995243" "00023033" "30" "23711" "0" "23711" "0" "c.*21617G>A" "r.(=)" "p.(=)" "" "0001035401" "00023033" "50" "25680" "0" "25683" "0" "c.*23586_*23589del" "r.(=)" "p.(=)" "" "0001035402" "00023033" "30" "24526" "0" "24526" "0" "c.*22432G>A" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 20 "{{screeningid}}" "{{variantid}}" "0000038902" "0000066710" "0000038903" "0000066711" "0000038904" "0000066712" "0000038905" "0000066713" "0000038906" "0000066714" "0000038907" "0000066715" "0000038907" "0000066742" "0000038908" "0000066716" "0000038909" "0000066717" "0000038933" "0000066741" "0000100656" "0000162964" "0000100657" "0000162965" "0000100659" "0000162967" "0000100660" "0000162968" "0000100662" "0000162970" "0000295121" "0000651810" "0000321535" "0000704425" "0000335547" "0000734053" "0000335721" "0000734490" "0000336256" "0000735480"