### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = FLT3) # 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}}" "FLT3" "fms-related tyrosine kinase 3" "13" "q12" "unknown" "NG_007066.1" "UD_132118512229" "" "https://www.LOVD.nl/FLT3" "" "1" "3765" "2322" "136351" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/FLT3_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2017-08-28 09:13:30" "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}}" "00008010" "FLT3" "fms-related tyrosine kinase 3" "001" "NM_004119.2" "" "NP_004110.2" "" "" "" "-82" "3760" "2982" "28674729" "28577411" "" "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" "00908" "AML" "leukemia, myeloid, acute (AML)" "" "601626" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2015-12-08 23:50:05" "03237" "ALL" "leukemia, lymphoid, acute (ALL)" "" "613065" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2016-03-20 12:15:43" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "FLT3" "00908" "FLT3" "03237" ## 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}}" "00290873" "" "" "" "30" "" "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 = 1 "{{individualid}}" "{{diseaseid}}" "00290873" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00908, 03237 ## Count = 0 ## 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}}" "0000292041" "00290873" "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 = 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 = 26 "{{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}}" "0000253535" "0" "10" "13" "28608241" "28608241" "subst" "0.00131483" "01943" "FLT3_000001" "g.28608241A>G" "" "" "" "FLT3(NM_004119.2):c.1815T>C (p.F605=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.28034104A>G" "" "benign" "" "0000280834" "0" "10" "13" "28636084" "28636084" "subst" "0.985064" "02325" "FLT3_000004" "g.28636084G>A" "" "" "" "FLT3(NM_004119.3):c.288C>T (p.D96=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.28061947G>A" "" "benign" "" "0000287775" "0" "30" "13" "28623525" "28623525" "subst" "0.000922133" "01943" "FLT3_000002" "g.28623525G>A" "" "" "" "FLT3(NM_004119.2):c.1032C>T (p.I344=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.28049388G>A" "" "likely benign" "" "0000287776" "0" "30" "13" "28644720" "28644720" "subst" "0" "01943" "FLT3_000005" "g.28644720T>C" "" "" "" "FLT3(NM_004119.2):c.73A>G (p.I25V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.28070583T>C" "" "likely benign" "" "0000287777" "0" "30" "13" "28623920" "28623920" "subst" "0.00183368" "01943" "FLT3_000003" "g.28623920T>C" "" "" "" "FLT3(NM_004119.2):c.743-9A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.28049783T>C" "" "likely benign" "" "0000550150" "0" "30" "13" "28611330" "28611330" "subst" "3.6608E-5" "01943" "FLT3_000006" "g.28611330T>C" "" "" "" "FLT3(NM_004119.2):c.1301A>G (p.N434S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.28037193T>C" "" "likely benign" "" "0000614557" "0" "30" "13" "28623587" "28623587" "subst" "0.0170803" "01804" "FLT3_000007" "g.28623587C>T" "" "" "" "FLT3(NM_004119.2):c.970G>A (p.(Asp324Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.28049450C>T" "" "likely benign" "" "0000614558" "0" "30" "13" "28626716" "28626716" "subst" "0.00505461" "01804" "FLT3_000008" "g.28626716C>T" "" "" "" "FLT3(NM_004119.2):c.580G>A (p.(Val194Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.28052579C>T" "" "likely benign" "" "0000648730" "1" "30" "13" "28623587" "28623587" "subst" "0.0170803" "03575" "FLT3_000007" "g.28623587C>T" "30/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "30 heterozygous, no homozygous; {DB:CLININrs35602083}" "Germline" "" "rs35602083" "0" "" "" "g.28049450C>T" "" "likely benign" "" "0000679754" "0" "30" "13" "28608473" "28608473" "subst" "0.0122742" "01804" "FLT3_000009" "g.28608473C>T" "" "" "" "FLT3(NM_004119.2):c.1669G>A (p.(Val557Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000679755" "0" "30" "13" "28609624" "28609624" "subst" "0.000378039" "01804" "FLT3_000010" "g.28609624T>C" "" "" "" "FLT3(NM_004119.2):c.1597+8A>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000679756" "0" "30" "13" "28624374" "28624374" "subst" "0.0108752" "01804" "FLT3_000011" "g.28624374G>T" "" "" "" "FLT3(NM_004119.2):c.615-15C>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691490" "0" "50" "13" "28622551" "28622551" "subst" "1.22243E-5" "01943" "FLT3_000012" "g.28622551T>C" "" "" "" "FLT3(NM_004119.2):c.1066A>G (p.S356G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000691491" "0" "30" "13" "28623600" "28623600" "subst" "1.21868E-5" "01943" "FLT3_000013" "g.28623600T>C" "" "" "" "FLT3(NM_004119.2):c.957A>G (p.S319=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724401" "0" "30" "13" "28626704" "28626704" "subst" "8.53985E-5" "01943" "FLT3_000014" "g.28626704G>A" "" "" "" "FLT3(NM_004119.2):c.592C>T (p.L198F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724402" "0" "30" "13" "28626797" "28626797" "subst" "0.000139145" "01943" "FLT3_000015" "g.28626797T>C" "" "" "" "FLT3(NM_004119.2):c.499A>G (p.T167A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853597" "0" "30" "13" "28599077" "28599077" "subst" "0.000312753" "01943" "FLT3_000018" "g.28599077C>G" "" "" "" "FLT3(NM_004119.2):c.2211G>C (p.M737I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853598" "0" "30" "13" "28610151" "28610151" "subst" "2.84782E-5" "01943" "FLT3_000019" "g.28610151C>A" "" "" "" "FLT3(NM_004119.2):c.1339G>T (p.A447S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863260" "0" "30" "13" "28578213" "28578213" "subst" "0.00907157" "01804" "FLT3_000016" "g.28578213C>T" "" "" "" "FLT3(NM_004119.2):c.2958G>A (p.(Pro986=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863261" "0" "50" "13" "28597486" "28597486" "subst" "0" "01943" "FLT3_000017" "g.28597486C>G" "" "" "" "FLT3(NM_004119.2):c.2418+1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980602" "0" "30" "13" "28578209" "28578209" "subst" "0.00204657" "01804" "FLT3_000020" "g.28578209C>G" "" "" "" "FLT3(NM_004119.3):c.2962G>C (p.(Ala988Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000980603" "0" "50" "13" "28597593" "28597593" "subst" "0.000382005" "01804" "FLT3_000021" "g.28597593T>G" "" "" "" "FLT3(NM_004119.3):c.2312A>C (p.(Gln771Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980604" "0" "30" "13" "28626820" "28626820" "subst" "8.39941E-6" "01804" "FLT3_000022" "g.28626820T>A" "" "" "" "FLT3(NM_004119.3):c.485-9A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001000492" "0" "50" "13" "28602309" "28602309" "subst" "0" "01804" "FLT3_000023" "g.28602309G>C" "" "" "" "FLT3(NM_004119.2):c.2053+6C>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001000493" "0" "30" "13" "28644733" "28644733" "subst" "8.19518E-6" "01804" "FLT3_000024" "g.28644733C>A" "" "" "" "FLT3(NM_004119.2):c.60G>T (p.(Met20Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001039633" "0" "30" "13" "28611382" "28611382" "subst" "0.00253925" "01804" "FLT3_000025" "g.28611382T>G" "" "" "" "FLT3(NM_004119.3):c.1249A>C (p.(Ile417Leu))" "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 FLT3 ## Count = 26 "{{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}}" "0000253535" "00008010" "10" "1815" "0" "1815" "0" "c.1815T>C" "r.(?)" "p.(Phe605=)" "" "0000280834" "00008010" "10" "288" "0" "288" "0" "c.288C>T" "r.(?)" "p.(Asp96=)" "" "0000287775" "00008010" "30" "1032" "0" "1032" "0" "c.1032C>T" "r.(?)" "p.(Ile344=)" "" "0000287776" "00008010" "30" "73" "0" "73" "0" "c.73A>G" "r.(?)" "p.(Ile25Val)" "" "0000287777" "00008010" "30" "743" "-9" "743" "-9" "c.743-9A>G" "r.(=)" "p.(=)" "" "0000550150" "00008010" "30" "1301" "0" "1301" "0" "c.1301A>G" "r.(?)" "p.(Asn434Ser)" "" "0000614557" "00008010" "30" "970" "0" "970" "0" "c.970G>A" "r.(?)" "p.(Asp324Asn)" "" "0000614558" "00008010" "30" "580" "0" "580" "0" "c.580G>A" "r.(?)" "p.(Val194Met)" "" "0000648730" "00008010" "30" "970" "0" "970" "0" "c.970G>A" "r.(?)" "p.(Asp324Asn)" "" "0000679754" "00008010" "30" "1669" "0" "1669" "0" "c.1669G>A" "r.(?)" "p.(Val557Ile)" "" "0000679755" "00008010" "30" "1597" "8" "1597" "8" "c.1597+8A>G" "r.(=)" "p.(=)" "" "0000679756" "00008010" "30" "615" "-15" "615" "-15" "c.615-15C>A" "r.(=)" "p.(=)" "" "0000691490" "00008010" "50" "1066" "0" "1066" "0" "c.1066A>G" "r.(?)" "p.(Ser356Gly)" "" "0000691491" "00008010" "30" "957" "0" "957" "0" "c.957A>G" "r.(?)" "p.(Ser319=)" "" "0000724401" "00008010" "30" "592" "0" "592" "0" "c.592C>T" "r.(?)" "p.(Leu198Phe)" "" "0000724402" "00008010" "30" "499" "0" "499" "0" "c.499A>G" "r.(?)" "p.(Thr167Ala)" "" "0000853597" "00008010" "30" "2211" "0" "2211" "0" "c.2211G>C" "r.(?)" "p.(Met737Ile)" "" "0000853598" "00008010" "30" "1339" "0" "1339" "0" "c.1339G>T" "r.(?)" "p.(Ala447Ser)" "" "0000863260" "00008010" "30" "2958" "0" "2958" "0" "c.2958G>A" "r.(?)" "p.(Pro986=)" "" "0000863261" "00008010" "50" "2418" "1" "2418" "1" "c.2418+1G>C" "r.spl?" "p.?" "" "0000980602" "00008010" "30" "2962" "0" "2962" "0" "c.2962G>C" "r.(?)" "p.(Ala988Pro)" "" "0000980603" "00008010" "50" "2312" "0" "2312" "0" "c.2312A>C" "r.(?)" "p.(Gln771Pro)" "" "0000980604" "00008010" "30" "485" "-9" "485" "-9" "c.485-9A>T" "r.(=)" "p.(=)" "" "0001000492" "00008010" "50" "2053" "6" "2053" "6" "c.2053+6C>G" "r.(=)" "p.(=)" "" "0001000493" "00008010" "30" "60" "0" "60" "0" "c.60G>T" "r.(?)" "p.(Met20Ile)" "" "0001039633" "00008010" "30" "1249" "0" "1249" "0" "c.1249A>C" "r.(?)" "p.(Ile417Leu)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{variantid}}" "0000292041" "0000648730"