### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = LHX4) # 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}}" "LHX4" "LIM homeobox 4" "1" "q25.3" "unknown" "NG_008081.1" "UD_132118208288" "" "https://www.LOVD.nl/LHX4" "" "1" "21734" "89884" "602146" "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/LHX4_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2022-12-24 13:47:25" "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}}" "00011116" "LHX4" "LIM homeobox 4" "001" "NM_033343.3" "" "NP_203129.1" "" "" "" "-232" "1647" "1173" "180199433" "180244188" "" "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}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01193" "BPES" "blepharophimosis, ptosis, and epicanthus inversus (BPES)" "AD;AR" "110100" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-04-20 14:30:33" "02019" "CPHD4" "hormone deficiency, pituitary, combined, type 4" "AD" "262700" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2022-12-24 13:48:38" "05296" "OI" "osteogenesis imperfecta" "" "" "" "" "" "00006" "2017-06-26 22:59:16" "00006" "2025-09-23 21:54:31" "06987" "CPHD" "hormone deficiency, pituitary, combined" "" "" "" "" "" "00006" "2022-12-22 15:47:43" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "LHX4" "02019" "LHX4" "06987" ## Individuals ## Do not remove or alter this header ## ## Count = 13 "{{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}}" "00081833" "" "" "" "2" "" "01543" "{PMID:Cohen 2017:27820671}" "2-generation family, affected mother/son" "M" "yes" "" "" "0" "" "" "" "Fam1PatII2" "00081834" "" "" "" "1" "" "01543" "{PMID:Cohen 2017:27820671}" "2-generation family, 1 affected, unaffected heterozygous carrier mother" "M" "no" "" "" "0" "" "" "" "Fam2PatII2" "00081835" "" "" "" "1" "" "01543" "{PMID:Cohen 2017:27820671}" "2-generation family, 1 affected, unaffected heterozygous carrier father" "M" "no" "" "" "0" "" "" "" "Fam3PatII3" "00081836" "" "" "" "1" "" "01543" "{PMID:Cohen 2017:27820671}" "2-generation family, 1 affected, unaffected heterozygous carrier father" "M" "no" "" "" "0" "" "" "" "Fam5PatII1" "00081837" "" "" "" "1" "" "01543" "{PMID:Cohen 2017:27820671}" "2-generation family, 1 affected, unaffected carrier mother" "F" "no" "" "" "0" "" "" "" "Fam6PatII2" "00081838" "" "" "" "1" "" "01543" "{PMID:Cohen 2017:27820671}" "2-generation family, 1 affected, unaffected non carrier parents" "M" "no" "" "" "0" "" "" "" "Fam7PatII1" "00289608" "" "" "" "85" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00397492" "" "" "" "1" "" "01468" "{PMID:Giannakopoulos 2022:35277652}" "" "F" "no" "Greece" "" "0" "" "" "" "patient" "00428216" "" "" "" "3" "" "00006" "{PMID:Pfaeffle 2008:18073311}" "2-generation family, 3 affected, father/2 duaghters" "F;M" "no" "Switzerland" "" "0" "" "" "" "FamAPatA1/2/3" "00428217" "" "" "" "1" "" "00006" "{PMID:Pfaeffle 2008:18073311}" "2-generation family, 1 affected" "M" "" "Macedonia" "" "0" "" "" "" "PatB1" "00428218" "" "" "" "1" "" "00006" "{PMID:Pfaeffle 2008:18073311}" "2-generation family, 1 affected" "F" "" "Germany" "" "0" "" "" "" "PatC1" "00428243" "" "" "" "1" "" "00006" "{PMID:Cohen 2017:27820671}" "2-generation family, 1 affected, unaffected carrier father" "M" "" "" "" "0" "" "" "" "Fam4PatII1" "00431355" "" "" "" "1" "" "04465" "{PMID:Hemwong 2020:32071780}" "" "M" "no" "Thailand" ">06y" "0" "" "" "" "patient" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 14 "{{individualid}}" "{{diseaseid}}" "00081833" "02019" "00081834" "02019" "00081835" "02019" "00081836" "02019" "00081837" "02019" "00081838" "02019" "00289608" "00198" "00397492" "01193" "00428216" "06987" "00428217" "06987" "00428218" "06987" "00428243" "02019" "00431355" "05296" "00431355" "06987" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01193, 02019, 05296, 06987 ## Count = 12 "{{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}}" "0000061477" "02019" "00081833" "01543" "Familial, autosomal dominant" "" "Transient GH defcit\r\nEctopic posterior pituitary" "" "09y06m" "" "" "" "" "" "" "" "" "" "0000061478" "02019" "00081834" "01543" "Isolated (sporadic)" "" "Combined pituitary hormone deficit (GH, TSH, FSH/LH, ACTH)\r\nEctopic posterior pituitary" "" "9 days" "" "" "" "" "" "" "" "" "" "0000061479" "02019" "00081835" "01543" "Isolated (sporadic)" "" "Isolated GH deficit\r\nEctopic posterior pituitary" "" "15 yers 2 months" "" "" "" "" "" "" "" "" "" "0000061480" "02019" "00081836" "01543" "Isolated (sporadic)" "" "Combined pituitary hormone deficit (GH, TSH, FSH/LH, ACTH)\r\nEutopic posterior pituitary" "" "2 years 6 months" "" "" "" "" "" "" "" "" "" "0000061481" "02019" "00081837" "01543" "Isolated (sporadic)" "" "Combined pituitary hormone deficit (GH, PRL, TSH, FSH/LH, ACTH)" "" "8 months" "" "" "" "" "" "" "" "" "" "0000061482" "02019" "00081838" "01543" "Isolated (sporadic)" "" "Combined pituitary hormone deficit (GH, YSH, ACTH)\r\nEctopic posterior pituitary" "" "1 day" "" "" "" "" "" "" "" "" "" "0000301256" "01193" "00397492" "01468" "Unknown" "16y" "see paper; ..., amenorrhea, short stature, bilateral blepharophimosis, ptosis eyelids, cubitus valgus; breast/pubic hair Tanner III stage without any signs of further pubertal progression" "" "" "" "" "" "" "" "" "" "amenorrhea, short stature" "" "0000319128" "06987" "00428216" "00006" "Familial, autosomal dominant" "" "see paper; ..., short stature" "" "" "" "" "" "" "" "" "CPHD4" "short stature" "" "0000319129" "06987" "00428217" "00006" "Unknown" "" "see paper; ..., short stature" "" "" "" "" "" "" "" "" "CPHD4" "short stature" "" "0000319130" "06987" "00428218" "00006" "Unknown" "" "see paper; ..., short stature" "" "" "" "" "" "" "" "" "CPHD4" "short stature" "" "0000321949" "05296" "00431355" "04465" "Isolated (sporadic)" "" "" ">06y" "" "" "" "" "" "" "" "" "" "" "0000321952" "06987" "00431355" "00006" "Familial, autosomal dominant" "" "combined pituitary hormone deficiency" "" "" "" "" "" "" "" "" "CPHD4" "combined pituitary hormone deficiency" "" ## Screenings ## Do not remove or alter this header ## ## Count = 13 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000081968" "00081834" "1" "01543" "01543" "2016-10-27 17:04:59" "" "" "SEQ" "DNA" "Blood" "" "0000081969" "00081835" "1" "01543" "01543" "2016-10-27 17:13:16" "" "" "SEQ" "DNA" "Blood" "" "0000081970" "00081836" "1" "01543" "01543" "2016-10-27 17:18:41" "" "" "SEQ" "DNA" "Blood" "" "0000081971" "00081837" "1" "01543" "01543" "2016-10-27 17:25:28" "" "" "SEQ" "DNA" "Blood" "" "0000081972" "00081838" "1" "01543" "01543" "2016-10-27 17:28:55" "" "" "SEQ" "DNA" "Blood" "" "0000081973" "00081833" "1" "01543" "01543" "2016-10-27 17:40:27" "01543" "2016-10-27 18:08:13" "SEQ" "DNA" "Blood" "" "0000290776" "00289608" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000398732" "00397492" "1" "01468" "01468" "2021-12-22 13:49:10" "00006" "2022-05-03 19:00:04" "SEQ-NG;SEQ-NG-I" "DNA" "BLOOD" "clinical WES, confirmed by Sanger sequencing" "0000429627" "00428216" "1" "00006" "00006" "2022-12-24 13:52:31" "" "" "SEQ" "DNA" "" "" "0000429628" "00428217" "1" "00006" "00006" "2022-12-24 13:55:42" "" "" "SEQ" "DNA" "" "" "0000429629" "00428218" "1" "00006" "00006" "2022-12-24 13:59:49" "" "" "SEQ" "DNA" "" "" "0000429654" "00428243" "1" "00006" "00006" "2022-12-24 16:51:05" "" "" "SEQ" "DNA" "" "" "0000432769" "00431355" "1" "04465" "04465" "2023-02-09 13:53:56" "" "" "SEQ-NG" "DNA" "peripheral blood" "whole exome sequencing (WES)" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 11 "{{screeningid}}" "{{geneid}}" "0000081968" "LHX4" "0000081969" "LHX4" "0000081970" "LHX4" "0000081971" "LHX4" "0000081972" "LHX4" "0000081973" "LHX4" "0000398732" "NR5A1" "0000429627" "LHX4" "0000429628" "LHX4" "0000429629" "LHX4" "0000429654" "LHX4" ## 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 = 55 "{{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}}" "0000134739" "21" "90" "1" "180240550" "180240550" "subst" "0" "01543" "LHX4_000005" "g.180240550A>C" "" "{PMID:Cohen 2017:27820671}" "" "" "unaffected carrier mother" "Germline" "" "" "0" "" "" "g.180271415A>C" "" "pathogenic (!)" "" "0000134740" "11" "90" "1" "180241025" "180241025" "subst" "1.62441E-5" "01543" "LHX4_000004" "g.180241025G>A" "" "{PMID:Cohen 2017:27820671}" "" "" "unaffected carrier father" "Germline" "" "" "0" "" "" "g.180271890G>A" "" "pathogenic (!)" "" "0000134741" "11" "90" "1" "180217486" "180217487" "del" "0" "01543" "LHX4_000002" "g.180217486_180217487del" "" "{PMID:Cohen 2017:27820671}" "" "143_144delGA" "unaffected carrier father" "Germline" "" "" "0" "" "" "g.180248351_180248352del" "" "pathogenic (!)" "" "0000134742" "21" "90" "1" "180235671" "180235671" "subst" "0" "01543" "LHX4_000006" "g.180235671C>G" "" "{PMID:Cohen 2017:27820671}" "" "" "unaffected carrier mother" "Germline" "" "" "0" "" "" "g.180266536C>G" "" "pathogenic (!)" "" "0000134743" "0" "70" "1" "180240670" "180240670" "subst" "0" "01543" "LHX4_000001" "g.180240670G>T" "" "{PMID:Cohen 2017:27820671}" "" "" "" "De novo" "" "" "0" "" "" "g.180271535G>T" "" "likely pathogenic (dominant)" "" "0000134744" "21" "90" "1" "180217537" "180217537" "subst" "3.25008E-5" "01543" "LHX4_000003" "g.180217537C>T" "" "{PMID:Cohen 2017:27820671}" "" "" "" "Germline" "yes" "" "0" "" "" "g.180248402C>T" "" "pathogenic (dominant)" "" "0000245426" "0" "10" "1" "180243524" "180243524" "subst" "0.483537" "02330" "LHX4_000013" "g.180243524A>G" "" "" "" "LHX4(NM_033343.4):c.983A>G (p.N328S), LHX4-AS1(NR_037642.1):n.31+262T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.180274389A>G" "" "benign" "" "0000245440" "0" "10" "1" "180243390" "180243390" "subst" "0.000454848" "02330" "LHX4_000012" "g.180243390A>C" "" "" "" "LHX4(NM_033343.4):c.849A>C (p.G283=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.180274255A>C" "" "benign" "" "0000248411" "0" "10" "1" "180243524" "180243524" "subst" "0.483537" "02325" "LHX4_000013" "g.180243524A>G" "" "" "" "LHX4(NM_033343.4):c.983A>G (p.N328S), LHX4-AS1(NR_037642.1):n.31+262T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.180274389A>G" "" "benign" "" "0000279083" "0" "10" "1" "180243558" "180243558" "subst" "7.71624E-5" "02330" "LHX4_000014" "g.180243558C>G" "" "" "" "LHX4(NM_033343.4):c.1017C>G (p.G339=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.180274423C>G" "" "benign" "" "0000279084" "0" "50" "1" "180243706" "180243706" "subst" "0.000275966" "02330" "LHX4_000015" "g.180243706C>A" "" "" "" "LHX4(NM_033343.3):c.1165C>A (p.(Pro389Thr)), LHX4(NM_033343.4):c.1165C>A (p.P389T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.180274571C>A" "" "VUS" "" "0000279085" "0" "10" "1" "180235662" "180235662" "subst" "0.00867545" "02330" "LHX4_000007" "g.180235662C>T" "" "" "" "LHX4(NM_033343.4):c.384C>T (p.D128=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.180266527C>T" "" "benign" "" "0000279086" "0" "10" "1" "180235728" "180235728" "subst" "0.0188568" "02330" "LHX4_000009" "g.180235728C>T" "" "" "" "LHX4(NM_033343.3):c.450C>T (p.(Asn150=)), LHX4(NM_033343.4):c.450C>T (p.N150=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.180266593C>T" "" "benign" "" "0000279087" "0" "10" "1" "180240510" "180240510" "subst" "0.066444" "02330" "LHX4_000010" "g.180240510T>C" "" "" "" "LHX4(NM_033343.4):c.452-5T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.180271375T>C" "" "benign" "" "0000279088" "0" "10" "1" "180241155" "180241155" "subst" "0.103532" "02330" "LHX4_000011" "g.180241155G>T" "" "" "" "LHX4(NM_033343.4):c.778+14G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.180272020G>T" "" "benign" "" "0000321157" "0" "50" "1" "180235684" "180235684" "subst" "6.49947E-5" "01804" "LHX4_000008" "g.180235684G>A" "" "" "" "LHX4(NM_033343.4):c.406G>A (p.(Gly136Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.180266549G>A" "" "VUS" "" "0000504356" "0" "50" "1" "180199701" "180199701" "subst" "0.000187179" "02330" "LHX4_000016" "g.180199701G>A" "" "" "" "LHX4(NM_033343.3):c.37G>A (p.(Val13Ile)), LHX4(NM_033343.4):c.37G>A (p.V13I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.180230566G>A" "" "VUS" "" "0000504357" "0" "10" "1" "180199727" "180199727" "subst" "0.0115624" "02330" "LHX4_000017" "g.180199727T>C" "" "" "" "LHX4(NM_033343.4):c.63T>C (p.G21=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.180230592T>C" "" "benign" "" "0000504358" "0" "10" "1" "180217433" "180217433" "subst" "0.000109958" "02330" "LHX4_000018" "g.180217433C>T" "" "" "" "LHX4(NM_033343.4):c.90C>T (p.C30=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.180248298C>T" "" "benign" "" "0000504359" "0" "30" "1" "180235728" "180235728" "subst" "0.0188568" "01804" "LHX4_000009" "g.180235728C>T" "" "" "" "LHX4(NM_033343.3):c.450C>T (p.(Asn150=)), LHX4(NM_033343.4):c.450C>T (p.N150=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.180266593C>T" "" "likely benign" "" "0000504360" "0" "10" "1" "180241053" "180241053" "subst" "0.000999212" "02330" "LHX4_000019" "g.180241053C>T" "" "" "" "LHX4(NM_033343.4):c.690C>T (p.S230=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.180271918C>T" "" "benign" "" "0000504361" "0" "50" "1" "180241084" "180241084" "subst" "4.46976E-5" "02327" "LHX4_000020" "g.180241084G>C" "" "" "" "LHX4(NM_033343.4):c.721G>C (p.(Glu241Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.180271949G>C" "" "VUS" "" "0000504362" "0" "10" "1" "180243731" "180243731" "subst" "0.00321762" "02330" "LHX4_000021" "g.180243731C>A" "" "" "" "LHX4(NM_033343.4):c.*17C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.180274596C>A" "" "benign" "" "0000605010" "0" "30" "1" "180235729" "180235729" "subst" "4.07511E-6" "01804" "LHX4_000022" "g.180235729G>C" "" "" "" "LHX4(NM_033343.3):c.451G>C (p.(Asp151His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.180266594G>C" "" "likely benign" "" "0000605011" "0" "30" "1" "180243550" "180243550" "subst" "1.21827E-5" "01804" "LHX4_000023" "g.180243550A>C" "" "" "" "LHX4(NM_033343.3):c.1009A>C (p.(Asn337His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.180274415A>C" "" "likely benign" "" "0000647465" "1" "30" "1" "180235728" "180235728" "subst" "0.0188568" "03575" "LHX4_000009" "g.180235728C>T" "85/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "85 heterozygous, no homozygous; {DB:CLININrs16855642}" "Germline" "" "rs16855642" "0" "" "" "g.180266593C>T" "" "likely benign" "" "0000687949" "0" "10" "1" "180217400" "180217400" "subst" "0.00337582" "02330" "LHX4_000024" "g.180217400C>A" "" "" "" "LHX4(NM_033343.4):c.77-20C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000687950" "0" "30" "1" "180235547" "180235547" "subst" "4.06501E-5" "02330" "LHX4_000025" "g.180235547C>T" "" "" "" "LHX4(NM_033343.4):c.269C>T (p.T90M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717010" "0" "30" "1" "180199701" "180199701" "subst" "0.000187179" "01804" "LHX4_000016" "g.180199701G>A" "" "" "" "LHX4(NM_033343.3):c.37G>A (p.(Val13Ile)), LHX4(NM_033343.4):c.37G>A (p.V13I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717011" "0" "50" "1" "180217434" "180217434" "subst" "4.07229E-5" "02327" "LHX4_000026" "g.180217434G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000717012" "0" "10" "1" "180240618" "180240618" "subst" "4.06405E-5" "02330" "LHX4_000027" "g.180240618C>T" "" "" "" "LHX4(NM_033343.4):c.555C>T (p.H185=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000798933" "0" "10" "1" "180243420" "180243420" "subst" "0.000227598" "02330" "LHX4_000028" "g.180243420C>T" "" "" "" "LHX4(NM_033343.4):c.879C>T (p.D293=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000847694" "11" "90" "1" "180235528" "180235528" "subst" "4.88659E-5" "01468" "LHX4_000029" "g.180235528C>T" "" "{PMID:Giannakopoulos 2022:35277652}" "" "" "ACMG PVS1, PP3, PP5 supporting" "Germline" "" "" "0" "" "" "g.180266393C>T" "" "pathogenic" "ACMG" "0000848407" "0" "10" "1" "180240953" "180240953" "subst" "8.12671E-5" "02330" "LHX4_000030" "g.180240953T>C" "" "" "" "LHX4(NM_033343.4):c.607-17T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000848408" "0" "50" "1" "180241046" "180241046" "subst" "3.65512E-5" "02330" "LHX4_000031" "g.180241046A>G" "" "" "" "LHX4(NM_033343.4):c.683A>G (p.Y228C, p.(Tyr228Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000882960" "0" "30" "1" "180217604" "180217604" "subst" "5.71587E-5" "02330" "LHX4_000032" "g.180217604G>A" "" "" "" "LHX4(NM_033343.4):c.248+13G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000882961" "0" "50" "1" "180243598" "180243598" "subst" "0" "02327" "LHX4_000033" "g.180243598A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000909212" "11" "90" "1" "180240991" "180240991" "subst" "0" "00006" "LHX4_000034" "g.180240991G>C" "" "{PMID:Pfaeffle 2008:18073311}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000909213" "0" "90" "1" "180235528" "180235528" "subst" "4.88659E-5" "00006" "LHX4_000029" "g.180235528C>T" "" "{PMID:Pfaeffle 2008:18073311}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.180266393C>T" "" "pathogenic (dominant)" "" "0000909214" "0" "90" "1" "180240632" "180240632" "subst" "0" "00006" "LHX4_000035" "g.180240632T>G" "" "{PMID:Pfaeffle 2008:18073311}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.180271497T>G" "" "pathogenic (dominant)" "" "0000909246" "11" "90" "1" "180241067" "180241067" "subst" "6.90613E-5" "00006" "LHX4_000036" "g.180241067G>A" "" "{PMID:Cohen 2017:27820671}" "" "" "unaffected carrier father" "Germline" "" "" "0" "" "" "" "" "pathogenic (!)" "" "0000918377" "11" "70" "1" "180235642" "180235642" "subst" "8.12236E-6" "00006" "LHX4_000037" "g.180235642C>T" "" "{PMID:Hemwong 2020:32071780}" "" "" "" "Germline" "" "" "0" "" "" "g.180266507C>T" "" "likely pathogenic" "" "0000923017" "0" "50" "1" "180243416" "180243416" "subst" "1.62483E-5" "01804" "LHX4_000038" "g.180243416T>A" "" "" "" "LHX4(NM_033343.3):c.875T>A (p.(Met292Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000928072" "0" "50" "1" "180240539" "180240539" "subst" "0" "01804" "LHX4_000039" "g.180240539G>A" "" "" "" "LHX4(NM_033343.3):c.476G>A (p.(Arg159Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973479" "0" "50" "1" "180235586" "180235586" "subst" "4.06134E-6" "01804" "LHX4_000040" "g.180235586G>A" "" "" "" "LHX4(NM_033343.4):c.308G>A (p.(Arg103His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973480" "0" "30" "1" "180235643" "180235643" "subst" "4.06114E-5" "01804" "LHX4_000041" "g.180235643G>A" "" "" "" "LHX4(NM_033343.4):c.365G>A (p.(Arg122Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000973481" "0" "50" "1" "180241046" "180241046" "subst" "3.65512E-5" "01804" "LHX4_000031" "g.180241046A>G" "" "" "" "LHX4(NM_033343.4):c.683A>G (p.Y228C, p.(Tyr228Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973482" "0" "30" "1" "180241084" "180241084" "subst" "4.46976E-5" "01804" "LHX4_000020" "g.180241084G>C" "" "" "" "LHX4(NM_033343.4):c.721G>C (p.(Glu241Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000973483" "0" "30" "1" "180243465" "180243465" "subst" "0.00131199" "02330" "LHX4_000042" "g.180243465T>C" "" "" "" "LHX4(NM_033343.4):c.924T>C (p.Y308=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990579" "0" "30" "1" "180235529" "180235529" "subst" "5.29208E-5" "01804" "LHX4_000043" "g.180235529G>A" "" "" "" "LHX4(NM_033343.3):c.251G>A (p.(Arg84His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990580" "0" "50" "1" "180241006" "180241006" "subst" "0" "01804" "LHX4_000044" "g.180241006C>G" "" "" "" "LHX4(NM_033343.3):c.643C>G (p.(Leu215Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000990581" "0" "30" "1" "180243490" "180243490" "subst" "4.06138E-6" "01804" "LHX4_000045" "g.180243490A>G" "" "" "" "LHX4(NM_033343.3):c.949A>G (p.(Ile317Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990582" "0" "30" "1" "180243539" "180243539" "subst" "4.46744E-5" "01804" "LHX4_000046" "g.180243539C>T" "" "" "" "LHX4(NM_033343.3):c.998C>T (p.(Thr333Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990583" "0" "30" "1" "180243706" "180243706" "subst" "0.000275966" "01804" "LHX4_000015" "g.180243706C>A" "" "" "" "LHX4(NM_033343.3):c.1165C>A (p.(Pro389Thr)), LHX4(NM_033343.4):c.1165C>A (p.P389T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001031514" "0" "30" "1" "180235732" "180235732" "subst" "0" "01804" "LHX4_000047" "g.180235732A>G" "" "" "" "LHX4(NM_033343.4):c.451+3A>G" "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 LHX4 ## Count = 55 "{{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}}" "0000134739" "00011116" "90" "487" "0" "487" "0" "c.487A>C" "r.(?)" "p.(Thr163Pro)" "4" "0000134740" "00011116" "90" "662" "0" "662" "0" "c.662G>A" "r.(?)" "p.(Arg221Gln)" "5" "0000134741" "00011116" "90" "143" "0" "144" "0" "c.143_144del" "r.(?)" "p.(Arg48Thrfs*104)" "2" "0000134742" "00011116" "90" "393" "0" "393" "0" "c.393C>G" "r.(?)" "p.(Tyr131*)" "3" "0000134743" "00011116" "70" "606" "1" "606" "1" "c.606+1G>T" "r.spl" "p.?" "4i" "0000134744" "00011116" "90" "194" "0" "194" "0" "c.194C>T" "r.(?)" "p.(Ala65Val)" "2" "0000245426" "00011116" "10" "983" "0" "983" "0" "c.983A>G" "r.(?)" "p.(Asn328Ser)" "" "0000245440" "00011116" "10" "849" "0" "849" "0" "c.849A>C" "r.(?)" "p.(Gly283=)" "" "0000248411" "00011116" "10" "983" "0" "983" "0" "c.983A>G" "r.(?)" "p.(Asn328Ser)" "" "0000279083" "00011116" "10" "1017" "0" "1017" "0" "c.1017C>G" "r.(?)" "p.(Gly339=)" "" "0000279084" "00011116" "50" "1165" "0" "1165" "0" "c.1165C>A" "r.(?)" "p.(Pro389Thr)" "" "0000279085" "00011116" "10" "384" "0" "384" "0" "c.384C>T" "r.(?)" "p.(Asp128=)" "" "0000279086" "00011116" "10" "450" "0" "450" "0" "c.450C>T" "r.(?)" "p.(Asn150=)" "" "0000279087" "00011116" "10" "452" "-5" "452" "-5" "c.452-5T>C" "r.spl?" "p.?" "" "0000279088" "00011116" "10" "778" "14" "778" "14" "c.778+14G>T" "r.(=)" "p.(=)" "" "0000321157" "00011116" "50" "406" "0" "406" "0" "c.406G>A" "r.(?)" "p.(Gly136Arg)" "" "0000504356" "00011116" "50" "37" "0" "37" "0" "c.37G>A" "r.(?)" "p.(Val13Ile)" "" "0000504357" "00011116" "10" "63" "0" "63" "0" "c.63T>C" "r.(?)" "p.(Gly21=)" "" "0000504358" "00011116" "10" "90" "0" "90" "0" "c.90C>T" "r.(?)" "p.(Cys30=)" "" "0000504359" "00011116" "30" "450" "0" "450" "0" "c.450C>T" "r.(?)" "p.(Asn150=)" "" "0000504360" "00011116" "10" "690" "0" "690" "0" "c.690C>T" "r.(?)" "p.(Ser230=)" "" "0000504361" "00011116" "50" "721" "0" "721" "0" "c.721G>C" "r.(?)" "p.(Glu241Gln)" "" "0000504362" "00011116" "10" "1190" "0" "1190" "0" "c.*17C>A" "r.(=)" "p.(=)" "" "0000605010" "00011116" "30" "451" "0" "451" "0" "c.451G>C" "r.(?)" "p.(Asp151His)" "" "0000605011" "00011116" "30" "1009" "0" "1009" "0" "c.1009A>C" "r.(?)" "p.(Asn337His)" "" "0000647465" "00011116" "30" "450" "0" "450" "0" "c.450C>T" "r.(=)" "p.(=)" "" "0000687949" "00011116" "10" "77" "-20" "77" "-20" "c.77-20C>A" "r.(=)" "p.(=)" "" "0000687950" "00011116" "30" "269" "0" "269" "0" "c.269C>T" "r.(?)" "p.(Thr90Met)" "" "0000717010" "00011116" "30" "37" "0" "37" "0" "c.37G>A" "r.(?)" "p.(Val13Ile)" "" "0000717011" "00011116" "50" "91" "0" "91" "0" "c.91G>A" "r.(?)" "p.(Ala31Thr)" "" "0000717012" "00011116" "10" "555" "0" "555" "0" "c.555C>T" "r.(?)" "p.(His185=)" "" "0000798933" "00011116" "10" "879" "0" "879" "0" "c.879C>T" "r.(?)" "p.(Asp293=)" "" "0000847694" "00011116" "90" "250" "0" "250" "0" "c.250C>T" "r.(?)" "p.(Arg84Cys)" "" "0000848407" "00011116" "10" "607" "-17" "607" "-17" "c.607-17T>C" "r.(=)" "p.(=)" "" "0000848408" "00011116" "50" "683" "0" "683" "0" "c.683A>G" "r.(?)" "p.(Tyr228Cys)" "" "0000882960" "00011116" "30" "248" "13" "248" "13" "c.248+13G>A" "r.(=)" "p.(=)" "" "0000882961" "00011116" "50" "1057" "0" "1057" "0" "c.1057A>T" "r.(?)" "p.(Arg353*)" "" "0000909212" "00011116" "90" "628" "0" "628" "0" "c.628G>C" "r.(?)" "p.(Ala210Pro)" "" "0000909213" "00011116" "90" "250" "0" "250" "0" "c.250C>T" "r.(?)" "p.(Arg84Cys)" "" "0000909214" "00011116" "90" "569" "0" "569" "0" "c.569T>G" "r.(?)" "p.(Leu190Arg)" "" "0000909246" "00011116" "90" "704" "0" "704" "0" "c.704G>A" "r.(?)" "p.(Arg235Gln)" "" "0000918377" "00011116" "70" "364" "0" "364" "0" "c.364C>T" "r.(?)" "p.(Arg122Trp)" "" "0000923017" "00011116" "50" "875" "0" "875" "0" "c.875T>A" "r.(?)" "p.(Met292Lys)" "" "0000928072" "00011116" "50" "476" "0" "476" "0" "c.476G>A" "r.(?)" "p.(Arg159Gln)" "" "0000973479" "00011116" "50" "308" "0" "308" "0" "c.308G>A" "r.(?)" "p.(Arg103His)" "" "0000973480" "00011116" "30" "365" "0" "365" "0" "c.365G>A" "r.(?)" "p.(Arg122Gln)" "" "0000973481" "00011116" "50" "683" "0" "683" "0" "c.683A>G" "r.(?)" "p.(Tyr228Cys)" "" "0000973482" "00011116" "30" "721" "0" "721" "0" "c.721G>C" "r.(?)" "p.(Glu241Gln)" "" "0000973483" "00011116" "30" "924" "0" "924" "0" "c.924T>C" "r.(?)" "p.(=)" "" "0000990579" "00011116" "30" "251" "0" "251" "0" "c.251G>A" "r.(?)" "p.(Arg84His)" "" "0000990580" "00011116" "50" "643" "0" "643" "0" "c.643C>G" "r.(?)" "p.(Leu215Val)" "" "0000990581" "00011116" "30" "949" "0" "949" "0" "c.949A>G" "r.(?)" "p.(Ile317Val)" "" "0000990582" "00011116" "30" "998" "0" "998" "0" "c.998C>T" "r.(?)" "p.(Thr333Met)" "" "0000990583" "00011116" "30" "1165" "0" "1165" "0" "c.1165C>A" "r.(?)" "p.(Pro389Thr)" "" "0001031514" "00011116" "30" "451" "3" "451" "3" "c.451+3A>G" "r.spl?" "p.?" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 13 "{{screeningid}}" "{{variantid}}" "0000081968" "0000134739" "0000081969" "0000134740" "0000081970" "0000134741" "0000081971" "0000134742" "0000081972" "0000134743" "0000081973" "0000134744" "0000290776" "0000647465" "0000398732" "0000847694" "0000429627" "0000909212" "0000429628" "0000909213" "0000429629" "0000909214" "0000429654" "0000909246" "0000432769" "0000918377"