### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = IKZF1) # 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}}" "IKZF1" "IKAROS family zinc finger 1" "7" "p12.2" "unknown" "NG_034231.1" "NC_000007.13" "" "https://www.LOVD.nl/IKZF1" "" "1" "13176" "10320" "603023" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "" "" "1" "" "" "-1" "" "-1" "00006" "2018-12-05 14:52:01" "" "" "00000" "2026-01-20 18:57:21" ## 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}}" "00025345" "IKZF1" "transcript variant 1" "007" "NM_006060.5" "" "NP_006051.1" "" "" "" "-268" "6034" "1560" "50344265" "50472799" "00001" "2018-12-10 13:47:51" "" "" ## 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}}" "05292" "IMD" "immunodeficiency (IMD)" "" "" "" "" "" "00006" "2017-06-24 18:16:32" "00006" "2017-10-24 17:01:05" "06735" "CVID13" "Immunodeficiency, common variable, 13" "AD" "616873" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "IKZF1" "06735" ## Individuals ## Do not remove or alter this header ## ## Count = 1 "{{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}}" "00433035" "" "" "" "1" "" "00006" "{PMID:Stray-Pedersen 2017:27577878}" "2-generation family, 1 affected, unaffected non-carriermother" "M" "" "Norway" "" "0" "" "" "" "Pat1,1" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{individualid}}" "{{diseaseid}}" "00433035" "05292" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 05292, 06735 ## Count = 1 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000323561" "05292" "00433035" "00006" "Unknown" "30y" "antibody deficiency including hyper IgM syndrome" "" "" "" "" "" "" "" "" "primary immunodeficiency disease" ## Screenings ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000434466" "00433035" "1" "00006" "00006" "2023-02-28 15:41:53" "" "" "arrayCGH;PCR;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 = 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}}" "0000254450" "0" "30" "7" "50435899" "50435899" "subst" "0" "01943" "IKZF1_000001" "g.50435899A>G" "" "" "" "IKZF1(NM_001291845.1):c.356A>G (p.H119R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50368201A>G" "" "likely benign" "" "0000532212" "0" "30" "7" "50436048" "50436048" "subst" "0" "01943" "IKZF1_000002" "g.50436048G>A" "" "" "" "IKZF1(NM_001291845.1):c.505G>A (p.A169T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50368350G>A" "" "likely benign" "" "0000532213" "0" "50" "7" "50468071" "50468071" "subst" "4.09853E-6" "01943" "IKZF1_000003" "g.50468071G>A" "" "" "" "IKZF1(NM_006060.6):c.1306G>A (p.D436N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000611129" "0" "50" "7" "50367255" "50367255" "subst" "0" "01943" "IKZF1_000004" "g.50367255G>T" "" "" "" "IKZF1(NM_006060.6):c.62G>T (p.S21I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50327659G>T" "" "VUS" "" "0000611130" "0" "30" "7" "50435936" "50435936" "subst" "0" "01943" "IKZF1_000005" "g.50435936C>T" "" "" "" "IKZF1(NM_001291845.1):c.393C>T (p.N131=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50368238C>T" "" "likely benign" "" "0000655851" "0" "50" "7" "50435776" "50435776" "subst" "0" "01943" "IKZF1_000006" "g.50435776C>A" "" "" "" "IKZF1(NM_001291845.1):c.233C>A (p.P78H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50368078C>A" "" "VUS" "" "0000678125" "0" "30" "7" "50358630" "50358630" "subst" "6.95251E-5" "02326" "IKZF1_000007" "g.50358630C>T" "" "" "" "IKZF1(NM_006060.6):c.-14-14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678126" "0" "30" "7" "50450356" "50450356" "subst" "0" "02326" "IKZF1_000008" "g.50450356C>T" "" "" "" "IKZF1(NM_001220765.3):c.540C>T (p.Y180=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690022" "0" "30" "7" "50367304" "50367304" "subst" "6.53093E-5" "01943" "IKZF1_000009" "g.50367304C>T" "" "" "" "IKZF1(NM_006060.6):c.111C>T (p.L37=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690023" "0" "30" "7" "50459521" "50459521" "subst" "4.87987E-5" "02326" "IKZF1_000010" "g.50459521C>T" "" "" "" "IKZF1(NM_001220765.3):c.684C>T (p.N228=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721492" "0" "30" "7" "50467851" "50467851" "subst" "3.69804E-5" "01943" "IKZF1_000011" "g.50467851C>T" "" "" "" "IKZF1(NM_006060.6):c.1086C>T (p.N362=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721493" "0" "30" "7" "50468073" "50468073" "subst" "0" "01943" "IKZF1_000012" "g.50468073C>A" "" "" "" "IKZF1(NM_006060.6):c.1308C>A (p.D436E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851630" "0" "50" "7" "50444306" "50444306" "subst" "4.06101E-6" "02327" "IKZF1_000013" "g.50444306C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000851631" "0" "90" "7" "50450406" "50450406" "subst" "0" "02329" "IKZF1_000014" "g.50450406G>A" "" "" "" "IKZF1(NM_001220765.3):c.589+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000887911" "0" "90" "7" "50450292" "50450292" "subst" "0" "02327" "IKZF1_000015" "g.50450292A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000887912" "0" "50" "7" "50459538" "50459538" "subst" "0" "02327" "IKZF1_000016" "g.50459538G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887913" "0" "50" "7" "50468083" "50468083" "subst" "0" "02329" "IKZF1_000017" "g.50468083G>A" "" "" "" "IKZF1(NM_001220765.3):c.1192G>A (p.A398T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887914" "0" "30" "7" "50468238" "50468238" "subst" "8.94207E-5" "02326" "IKZF1_000018" "g.50468238G>A" "" "" "" "IKZF1(NM_001220765.3):c.1347G>A (p.E449=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000920226" "1" "90" "7" "50435843" "50452713" "del" "0" "00006" "IKZF1_000019" "g.50435843_50452713del" "" "{PMID:Stray-Pedersen 2017:27577878}" "" "del ex4-5" "" "Germline" "" "" "0" "" "" "g.50368149_50389656del" "" "pathogenic" "ACMG" "0000948921" "0" "30" "7" "50467869" "50467869" "subst" "0" "02325" "IKZF1_000020" "g.50467869C>A" "" "" "" "IKZF1(NM_006060.6):c.1104C>A (p.S368R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977769" "0" "50" "7" "50435897" "50435897" "subst" "0" "01804" "IKZF1_000021" "g.50435897C>A" "" "" "" "IKZF1(NM_001291845.2):c.354C>A (p.(Tyr118*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977770" "0" "50" "7" "50459525" "50459525" "subst" "8.13908E-6" "01804" "IKZF1_000022" "g.50459525G>A" "" "" "" "IKZF1(NM_006060.6):c.814G>A (p.(Ala272Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036441" "0" "30" "7" "50435903" "50435903" "subst" "0" "01804" "IKZF1_000023" "g.50435903C>A" "" "" "" "IKZF1(NM_001291845.2):c.360C>A (p.(Ile120=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001064717" "0" "50" "7" "50435925" "50435925" "subst" "0" "01804" "IKZF1_000024" "g.50435925A>G" "" "" "" "IKZF1(NM_001291845.2):c.382A>G (p.(Lys128Glu))" "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 IKZF1 ## 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}}" "0000254450" "00025345" "30" "161" "-8332" "161" "-8332" "c.161-8332A>G" "r.(=)" "p.(=)" "" "0000532212" "00025345" "30" "161" "-8183" "161" "-8183" "c.161-8183G>A" "r.(=)" "p.(=)" "" "0000532213" "00025345" "50" "1306" "0" "1306" "0" "c.1306G>A" "r.(?)" "p.(Asp436Asn)" "" "0000611129" "00025345" "50" "62" "0" "62" "0" "c.62G>T" "r.(?)" "p.(Ser21Ile)" "" "0000611130" "00025345" "30" "161" "-8295" "161" "-8295" "c.161-8295C>T" "r.(=)" "p.(=)" "" "0000655851" "00025345" "50" "161" "-8455" "161" "-8455" "c.161-8455C>A" "r.(=)" "p.(=)" "" "0000678125" "00025345" "30" "-14" "-14" "-14" "-14" "c.-14-14C>T" "r.(=)" "p.(=)" "" "0000678126" "00025345" "30" "540" "0" "540" "0" "c.540C>T" "r.(?)" "p.(=)" "" "0000690022" "00025345" "30" "111" "0" "111" "0" "c.111C>T" "r.(?)" "p.(=)" "" "0000690023" "00025345" "30" "810" "0" "810" "0" "c.810C>T" "r.(?)" "p.(=)" "" "0000721492" "00025345" "30" "1086" "0" "1086" "0" "c.1086C>T" "r.(?)" "p.(=)" "" "0000721493" "00025345" "30" "1308" "0" "1308" "0" "c.1308C>A" "r.(?)" "p.(Asp436Glu)" "" "0000851630" "00025345" "50" "236" "0" "236" "0" "c.236C>T" "r.(?)" "p.(Ala79Val)" "" "0000851631" "00025345" "90" "589" "1" "589" "1" "c.589+1G>A" "r.spl?" "p.?" "" "0000887911" "00025345" "90" "476" "0" "476" "0" "c.476A>G" "r.(?)" "p.(Asn159Ser)" "" "0000887912" "00025345" "50" "827" "0" "827" "0" "c.827G>C" "r.(?)" "p.(Ser276Thr)" "" "0000887913" "00025345" "50" "1318" "0" "1318" "0" "c.1318G>A" "r.(?)" "p.(Ala440Thr)" "" "0000887914" "00025345" "30" "1473" "0" "1473" "0" "c.1473G>A" "r.(?)" "p.(=)" "" "0000920226" "00025345" "90" "165" "-8388" "593" "2308" "c.165-8388_593+2308del" "r.?" "p.?" "3i_5i" "0000948921" "00025345" "30" "1104" "0" "1104" "0" "c.1104C>A" "r.(?)" "p.(Ser368Arg)" "" "0000977769" "00025345" "50" "161" "-8334" "161" "-8334" "c.161-8334C>A" "r.(=)" "p.(=)" "" "0000977770" "00025345" "50" "814" "0" "814" "0" "c.814G>A" "r.(?)" "p.(Ala272Thr)" "" "0001036441" "00025345" "30" "161" "-8328" "161" "-8328" "c.161-8328C>A" "r.(=)" "p.(=)" "" "0001064717" "00025345" "50" "161" "-8306" "161" "-8306" "c.161-8306A>G" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{variantid}}" "0000434466" "0000920226"