### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = SOX18)
# 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}}"
"SOX18" "SRY (sex determining region Y)-box 18" "20" "q13.33" "unknown" "NG_008095.1" "UD_132118979842" "" "https://www.LOVD.nl/SOX18" "" "1" "11194" "54345" "601618" "1" "1" "1" "1" "![](\"docs/Leuven_UCL_logo.png\")
This database is one of the \"Vascular anomalies and lymphedema\" gene variant databases, curated by the Laboratory of Human Molecular Genetics, de Duve Institute, Brussels (Belgium).\r\nEstablishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/SOX18_codingDNA.html" "1" "" "
This database is one of the \"Vascular anomalies and lymphedema\" gene variant databases." "-1" "" "-1" "00001" "2010-04-14 00:00:00" "00006" "2018-05-11 18:03:00" "00000" "2024-08-28 13:16:32"
## 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}}"
"00020052" "SOX18" "SRY (sex determining region Y)-box 18" "001" "NM_018419.2" "" "NP_060889.1" "" "" "" "-110" "1595" "1155" "62680979" "62679079" "" "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}}"
"00152" "CHD" "heart disease, congenital (CHD)" "" "" "" "" "" "00008" "2013-06-19 09:27:11" "00006" "2015-01-23 22:14:45"
"02708" "HLTS" "hypotrichosis-lymphedema-telangiectasia syndrome (HLTS)" "AR" "607823" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
"04671" "HLTRS" "hypotrichosis-lymphedema-telangiectasia-renal defect syndrome (HLTRS)" "AD" "137940" "" "" "" "00000" "2015-09-23 10:25:23" "00006" "2021-12-10 21:51:32"
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{geneid}}" "{{diseaseid}}"
"SOX18" "02708"
"SOX18" "04671"
## 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}}"
"00409392" "" "" "" "1" "" "03465" "" "" "" "" "China" "" "" "" "" "" ""
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{individualid}}" "{{diseaseid}}"
"00409392" "00152"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00152, 02708, 04671
## 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}}"
"0000301509" "00152" "00409392" "03465" "Familial, autosomal dominant" "" "" "" "" "congenital heart disease" "SOX18" "" "" "" "congenital heart disease" "congenital heart disease (CHD)"
## 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}}"
"0000410656" "00409392" "1" "03465" "03465" "2022-05-09 03:05:06" "" "" "SEQ-NG-I" "DNA" "" ""
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 1
"{{screeningid}}" "{{geneid}}"
"0000410656" "SOX18"
## 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 = 11
"{{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}}"
"0000296111" "0" "10" "20" "62680496" "62680496" "subst" "0.00103358" "02330" "SOX18_000006" "g.62680496C>T" "" "" "" "SOX18(NM_018419.3):c.358+16G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64049143C>T" "" "benign" ""
"0000296112" "0" "30" "20" "62680335" "62680335" "subst" "3.21457E-5" "02330" "SOX18_000005" "g.62680335G>A" "" "" "" "SOX18(NM_018419.3):c.359-20C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64048982G>A" "" "likely benign" ""
"0000296113" "0" "50" "20" "62680821" "62680821" "subst" "0" "02330" "SOX18_000007" "g.62680821G>A" "" "" "" "SOX18(NM_018419.3):c.49C>T (p.R17C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64049468G>A" "" "VUS" ""
"0000296114" "0" "10" "20" "62679908" "62679908" "subst" "0" "02330" "SOX18_000002" "g.62679908G>A" "" "" "" "SOX18(NM_018419.3):c.766C>T (p.R256W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64048555G>A" "" "benign" ""
"0000296115" "0" "10" "20" "62679873" "62679873" "subst" "0" "02330" "SOX18_000001" "g.62679873C>T" "" "" "" "SOX18(NM_018419.3):c.801G>A (p.A267=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64048520C>T" "" "benign" ""
"0000308727" "0" "50" "20" "62679998" "62679998" "subst" "0" "01943" "SOX18_000003" "g.62679998C>G" "" "" "" "SOX18(NM_018419.2):c.676G>C (p.G226R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64048645C>G" "" "VUS" ""
"0000570386" "0" "30" "20" "62679713" "62679713" "subst" "0.000517183" "02330" "SOX18_000008" "g.62679713C>T" "" "" "" "SOX18(NM_018419.3):c.961G>A (p.D321N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.64048360C>T" "" "likely benign" ""
"0000570387" "0" "10" "20" "62680627" "62680627" "subst" "0.00352571" "02330" "SOX18_000009" "g.62680627G>A" "" "" "" "SOX18(NM_018419.3):c.243C>T (p.D81=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.64049274G>A" "" "benign" ""
"0000848037" "10" "90" "20" "62680521" "62680521" "subst" "0" "03465" "SOX18_000010" "g.62680521A>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.64049168T>A" "" "pathogenic" "ACMG"
"0000983934" "0" "50" "20" "62680799" "62680799" "subst" "0" "01804" "SOX18_000011" "g.62680799G>T" "" "" "" "SOX18(NM_018419.3):c.71C>A (p.(Pro24Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001005600" "0" "50" "20" "62680162" "62680162" "subst" "0" "01804" "SOX18_000012" "g.62680162C>A" "" "" "" "SOX18(NM_018419.2):c.512G>T (p.(Gly171Val))" "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 SOX18
## Count = 11
"{{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}}"
"0000296111" "00020052" "10" "358" "16" "358" "16" "c.358+16G>A" "r.(=)" "p.(=)" ""
"0000296112" "00020052" "30" "359" "-20" "359" "-20" "c.359-20C>T" "r.(=)" "p.(=)" ""
"0000296113" "00020052" "50" "49" "0" "49" "0" "c.49C>T" "r.(?)" "p.(Arg17Cys)" ""
"0000296114" "00020052" "10" "766" "0" "766" "0" "c.766C>T" "r.(?)" "p.(Arg256Trp)" ""
"0000296115" "00020052" "10" "801" "0" "801" "0" "c.801G>A" "r.(?)" "p.(Ala267=)" ""
"0000308727" "00020052" "50" "676" "0" "676" "0" "c.676G>C" "r.(?)" "p.(Gly226Arg)" ""
"0000570386" "00020052" "30" "961" "0" "961" "0" "c.961G>A" "r.(?)" "p.(Asp321Asn)" ""
"0000570387" "00020052" "10" "243" "0" "243" "0" "c.243C>T" "r.(?)" "p.(Asp81=)" ""
"0000848037" "00020052" "90" "349" "0" "349" "0" "c.349A>T" "r.(472a>u)" "p.(Lys117*)" "2"
"0000983934" "00020052" "50" "71" "0" "71" "0" "c.71C>A" "r.(?)" "p.(Pro24Gln)" ""
"0001005600" "00020052" "50" "512" "0" "512" "0" "c.512G>T" "r.(?)" "p.(Gly171Val)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 1
"{{screeningid}}" "{{variantid}}"
"0000410656" "0000848037"