### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = LHX2) # 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}}" "LHX2" "LIM homeobox 2" "9" "q33.3" "unknown" "NC_000009.11" "UD_136021718693" "" "https://www.LOVD.nl/LXH2" "" "1" "6594" "9355" "603759" "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/LHX2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2022-12-16 11:37:07" "00006" "2022-12-16 17:20:08" ## 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}}" "00011114" "LHX2" "LIM homeobox 2" "001" "NM_004789.3" "" "NP_004780.3" "" "" "" "-739" "1677" "1221" "126773889" "126795442" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "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 = 1 "{{geneid}}" "{{diseaseid}}" "LHX2" "05611" ## Individuals ## Do not remove or alter this header ## ## Count = 17 "{{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}}" "00427836" "" "" "" "1" "" "02524" "Schmid, Gregor 2022" "" "" "" "" "" "0" "" "" "" "" "00427837" "" "" "" "1" "" "02524" "Schmid, Gregor 2022" "" "" "" "" "" "0" "" "" "" "" "00427838" "" "" "" "1" "" "02524" "Schmid, Gregor 2022" "" "" "" "" "" "0" "" "" "" "" "00427839" "" "" "" "1" "" "02524" "Schmid, Gregor 2022" "" "" "" "" "" "0" "" "" "" "" "00427840" "" "" "" "1" "" "02524" "Schmid, Gregor 2022" "" "" "" "" "" "0" "" "" "" "" "00427841" "" "" "" "1" "" "02524" "Schmid, Gregor 2022" "" "" "" "" "" "0" "" "" "" "" "00427842" "" "" "" "1" "" "02524" "Schmid, Gregor 2022" "" "" "" "" "" "0" "" "" "" "" "00427843" "" "" "" "1" "" "02524" "Schmid, Gregor 2022" "" "" "" "" "" "0" "" "" "" "" "00427844" "" "" "" "1" "" "02524" "Schmid, Gregor 2022" "" "" "" "" "" "0" "" "" "" "" "00427845" "" "" "" "1" "" "02524" "Schmid, Gregor 2022" "" "" "" "" "" "0" "" "" "" "" "00427846" "" "" "" "1" "" "02524" "Schmid, Gregor 2022" "" "" "" "" "" "0" "" "" "" "" "00427847" "" "" "" "1" "" "02524" "Schmid, Gregor 2022" "" "" "" "" "" "0" "" "" "" "" "00427848" "" "" "" "1" "" "02524" "Schmid, Gregor 2022" "" "" "" "" "" "0" "" "" "" "" "00427849" "" "" "" "1" "" "02524" "Schmid, Gregor 2022" "" "" "" "" "" "0" "" "" "" "" "00427850" "" "" "" "1" "" "02524" "Schmid, Gregor 2022" "" "" "" "" "" "0" "" "" "" "" "00427851" "" "" "" "1" "" "02524" "Schmid, Gregor 2022" "" "" "" "" "" "0" "" "" "" "" "00427852" "" "" "" "1" "" "02524" "Schmid, Gregor 2022" "" "" "" "" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 17 "{{individualid}}" "{{diseaseid}}" "00427836" "05611" "00427837" "05611" "00427838" "05611" "00427839" "05611" "00427840" "05611" "00427841" "05611" "00427842" "05611" "00427843" "05611" "00427844" "05611" "00427845" "05611" "00427846" "05611" "00427847" "05611" "00427848" "05611" "00427849" "05611" "00427850" "05611" "00427851" "05611" "00427852" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 05611 ## Count = 0 ## Screenings ## Do not remove or alter this header ## ## Count = 17 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000429158" "00427836" "1" "02524" "02524" "2022-12-15 18:07:50" "" "" "SEQ-NG" "DNA" "" "" "0000429159" "00427837" "1" "02524" "02524" "2022-12-15 18:13:32" "" "" "SEQ-NG" "DNA" "" "" "0000429160" "00427838" "1" "02524" "02524" "2022-12-15 18:18:39" "" "" "SEQ-NG" "DNA" "" "" "0000429161" "00427839" "1" "02524" "02524" "2022-12-15 18:20:47" "" "" "SEQ-NG" "DNA" "" "" "0000429162" "00427840" "1" "02524" "02524" "2022-12-15 18:22:21" "" "" "SEQ-NG" "DNA" "" "" "0000429163" "00427841" "1" "02524" "02524" "2022-12-15 18:26:45" "" "" "SEQ-NG" "DNA" "" "" "0000429164" "00427842" "1" "02524" "02524" "2022-12-15 18:29:33" "" "" "SEQ-NG" "DNA" "" "" "0000429165" "00427843" "1" "02524" "02524" "2022-12-15 18:31:21" "" "" "SEQ-NG" "DNA" "" "" "0000429166" "00427844" "1" "02524" "02524" "2022-12-15 18:32:50" "" "" "SEQ-NG" "DNA" "" "" "0000429167" "00427845" "1" "02524" "02524" "2022-12-15 18:34:38" "" "" "SEQ-NG" "DNA" "" "" "0000429168" "00427846" "1" "02524" "02524" "2022-12-16 13:17:06" "" "" "SEQ-NG" "DNA" "" "" "0000429169" "00427847" "1" "02524" "02524" "2022-12-16 13:19:04" "" "" "SEQ-NG" "DNA" "" "" "0000429170" "00427848" "1" "02524" "02524" "2022-12-16 13:20:27" "" "" "SEQ-NG" "DNA" "" "" "0000429171" "00427849" "1" "02524" "02524" "2022-12-16 13:22:06" "" "" "SEQ-NG" "DNA" "" "" "0000429172" "00427850" "1" "02524" "02524" "2022-12-16 13:57:59" "" "" "SEQ-NG" "DNA" "" "" "0000429173" "00427851" "1" "02524" "02524" "2022-12-16 13:59:44" "" "" "SEQ-NG" "DNA" "" "" "0000429174" "00427852" "1" "02524" "02524" "2022-12-16 14:01:14" "" "" "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 = 17 "{{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}}" "0000908583" "0" "70" "9" "126776391" "126776391" "dup" "0" "02524" "LHX2_000001" "g.126776391dup" "" " \tSchmid, Gregor 2022" "" "" "" "De novo" "" "" "0" "" "" "g.124014112dup" "" "pathogenic" "ACMG" "0000908584" "0" "90" "9" "126776306" "126776306" "del" "0" "02524" "LHX2_000002" "g.126776306del" "" " \tSchmid, Gregor 2022" "" "" "" "De novo" "" "" "0" "" "" "g.124014027del" "" "pathogenic" "" "0000908585" "0" "70" "9" "126776408" "126776412" "del" "0" "02524" "LHX2_000003" "g.126776408_126776412del" "" " \tSchmid, Gregor 2022" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.124014129_124014133del" "" "likely pathogenic" "ACMG" "0000908586" "0" "70" "9" "126777415" "126777428" "del" "0" "02524" "LHX2_000004" "g.126777415_126777428del" "" " \tSchmid, Gregor 2022" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.124015136_124015149del" "" "likely pathogenic" "ACMG" "0000908587" "0" "90" "9" "126777666" "126777666" "subst" "0" "02524" "LHX2_000005" "g.126777666A>T" "" " \tSchmid, Gregor 2022" "" "" "" "De novo" "" "" "0" "" "" "g.124015387A>T" "" "pathogenic" "ACMG" "0000908588" "0" "90" "9" "126777716" "126777716" "subst" "0" "02524" "LHX2_000006" "g.126777716C>A" "" " \tSchmid, Gregor 2022" "" "" "" "De novo" "" "" "0" "" "" "g.124015437C>A" "" "pathogenic" "ACMG" "0000908589" "0" "70" "9" "126777783" "126777783" "del" "0" "02524" "LHX2_000007" "g.126777783del" "" " \tSchmid, Gregor 2022" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.124015504del" "" "likely pathogenic" "ACMG" "0000908590" "0" "70" "9" "126794703" "126794703" "subst" "0" "02524" "LHX2_000008" "g.126794703G>A" "" " \tSchmid, Gregor 2022" "" "" "" "De novo" "" "" "0" "" "" "g.124032424G>A" "" "likely pathogenic" "ACMG" "0000908591" "0" "90" "9" "126794743" "126794746" "del" "0" "02524" "LHX2_000009" "g.126794743_126794746del" "" " \tSchmid, Gregor 2022" "" "" "" "De novo" "" "" "0" "" "" "g.124032464_124032467del" "" "pathogenic" "ACMG" "0000908592" "0" "70" "9" "126794747" "126794759" "dup" "0" "02524" "LHX2_000010" "g.126794747_126794759dup" "" " \tSchmid, Gregor 2022" "" "" "" "De novo" "" "" "0" "" "" "g.124032468_124032480dup" "" "likely pathogenic" "ACMG" "0000908598" "0" "90" "9" "126776357" "126776357" "subst" "0" "02524" "LHX2_000014" "g.126776357T>A" "" "Schmid, Gregor 2022" "" "" "" "De novo" "" "" "0" "" "" "g.124014078T>A" "" "likely pathogenic" "ACMG" "0000908599" "0" "90" "9" "126777514" "126777514" "subst" "0" "02524" "LHX2_000013" "g.126777514G>A" "" " \tSchmid, Gregor 2022" "" "" "" "De novo" "" "" "0" "" "" "g.124015235G>A" "" "likely pathogenic" "ACMG" "0000908600" "0" "90" "9" "126794713" "126794713" "subst" "0" "02524" "LHX2_000012" "g.126794713C>G" "" " \tSchmid, Gregor 2022" "" "" "" "De novo" "" "" "0" "" "" "g.124032434C>G" "" "likely pathogenic" "ACMG" "0000908601" "0" "90" "9" "126794718" "126794718" "subst" "0" "02524" "LHX2_000011" "g.126794718G>T" "" " \tSchmid, Gregor 2022" "" "" "" "De novo" "" "" "0" "" "" "g.124032439G>T" "" "likely pathogenic" "ACMG" "0000908603" "0" "50" "9" "126783530" "126783530" "subst" "0" "02524" "LHX2_000015" "g.126783530A>G" "" "Schmid, Gregor 2022" "" "" "" "De novo" "" "" "0" "" "" "g.124021251A>G" "" "VUS" "ACMG" "0000908604" "0" "50" "9" "126777698" "126777698" "subst" "0" "02524" "LHX2_000016" "g.126777698C>A" "" "Schmid, Gregor 2022" "" "" "" "De novo" "" "" "0" "" "" "g.124015419C>A" "" "VUS" "ACMG" "0000908606" "0" "50" "9" "126777721" "126777721" "subst" "0" "02524" "LHX2_000017" "g.126777721A>G" "" "Schmid, Gregor 2022" "" "" "" "De novo" "" "" "0" "" "" "g.124015442A>G" "" "VUS" "ACMG" ## 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 LHX2 ## Count = 17 "{{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}}" "0000908583" "00011114" "70" "272" "0" "272" "0" "c.272dup" "r.(?)" "p.(Thr92Hisfs*8)" "" "0000908584" "00011114" "90" "187" "0" "187" "0" "c.187del" "r.(?)" "p.(Arg63Alafs*66)" "" "0000908585" "00011114" "70" "289" "0" "293" "0" "c.289_293del" "r.(?)" "p.(Asp97*)" "" "0000908586" "00011114" "70" "338" "0" "351" "0" "c.338_351del" "r.(?)" "p.(Gln113Leufs*30)" "" "0000908587" "00011114" "90" "589" "0" "589" "0" "c.589A>T" "r.(?)" "p.(Lys197*)" "" "0000908588" "00011114" "90" "639" "0" "639" "0" "c.639C>A" "r.(?)" "p.(Tyr213*)" "" "0000908589" "00011114" "70" "706" "0" "706" "0" "c.706del" "r.(?)" "p.(Asp236Ilefs*9)" "" "0000908590" "00011114" "70" "938" "0" "938" "0" "c.938G>A" "r.(?)" "p.(Trp313*)" "" "0000908591" "00011114" "90" "978" "0" "981" "0" "c.978_981del" "r.(?)" "p.(Leu326Phefs*41)" "" "0000908592" "00011114" "70" "982" "0" "994" "0" "c.982_994dup" "r.(?)" "p.(Gly332Alafs*45)" "" "0000908598" "00011114" "90" "238" "0" "238" "0" "c.238T>A" "r.(?)" "p.(Cys80Ser)" "" "0000908599" "00011114" "90" "437" "0" "437" "0" "c.437G>A" "r.(?)" "p.(Cys146Tyr)" "" "0000908600" "00011114" "90" "948" "0" "948" "0" "c.948C>G" "r.(?)" "p.(Asn316Lys)" "" "0000908601" "00011114" "90" "953" "0" "953" "0" "c.953G>T" "r.(?)" "p.(Arg318Leu)" "" "0000908603" "00011114" "50" "880" "0" "880" "0" "c.880A>G" "r.(?)" "p.(Lys294Glu)" "" "0000908604" "00011114" "50" "621" "0" "621" "0" "c.621C>A" "r.(?)" "p.(Asn207Lys)" "" "0000908606" "00011114" "50" "644" "0" "644" "0" "c.644A>G" "r.(?)" "p.(Asn215Ser)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 17 "{{screeningid}}" "{{variantid}}" "0000429158" "0000908583" "0000429159" "0000908584" "0000429160" "0000908585" "0000429161" "0000908586" "0000429162" "0000908587" "0000429163" "0000908588" "0000429164" "0000908589" "0000429165" "0000908590" "0000429166" "0000908591" "0000429167" "0000908592" "0000429168" "0000908598" "0000429169" "0000908599" "0000429170" "0000908600" "0000429171" "0000908601" "0000429172" "0000908603" "0000429173" "0000908604" "0000429174" "0000908606"