### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SOX9) # 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}}" "SOX9" "SRY (sex determining region Y)-box 9" "17" "q23" "unknown" "NG_012490.1" "UD_132118694906" "" "http://www.LOVD.nl/SOX9" "" "1" "11204" "6662" "608160" "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/SOX9_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2016-02-03 07:05:21" "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}}" "00020044" "SOX9" "SRY (sex determining region Y)-box 9" "001" "NM_000346.3" "" "NP_000337.1" "" "" "" "-372" "3563" "1530" "70117161" "70122561" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{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" "01220" "CMPD" "dysplasia, campomelic" "AD" "114290" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05184" "SRXX2" "46,XX sex reversal, type 2 (SRXX-2)" "" "278850" "" "" "" "00006" "2016-09-23 12:53:37" "00006" "2021-12-10 21:51:32" "05597" "DSD" "disorder of sex development (DSD)" "" "" "" "" "" "00006" "2019-04-28 14:45:24" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "SOX9" "01220" "SOX9" "05184" ## Individuals ## Do not remove or alter this header ## ## Count = 9 "{{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}}" "00058589" "" "" "" "1" "" "01396" "" "" "F" "no" "Brazil" "" "0" "" "" "" "" "00081220" "" "" "" "4" "" "00006" "{PMID:Cox 2011:21208124}, {DOI:Cox 2011:10.1056/NEJMc1010311}" "4-generation family, 4 carriers" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00163910" "" "" "" "1" "" "01807" "" "" "F" "" "(Germany)" "" "0" "" "" "" "" "00231471" "" "" "" "1" "" "00006" "{PMID:Eggers 2016:27899157}" "" "" "" "" "" "0" "" "" "" "Pat106" "00231479" "" "" "" "1" "" "00006" "{PMID:Eggers 2016:27899157}" "" "" "" "" "" "0" "" "" "" "Pat127" "00231541" "" "" "" "1" "" "00006" "{PMID:Eggers 2016:27899157}" "" "" "" "" "" "0" "" "" "" "Pat278" "00231564" "" "" "" "1" "" "00006" "{PMID:Eggers 2016:27899157}" "" "" "" "" "" "0" "" "" "" "Pat67" "00325870" "" "" "" "1" "" "01807" "" "" "?" "" "" "" "0" "" "" "" "" "00380395" "" "" "" "1" "" "01164" "" "" "M" "no" "" "" "0" "" "" "" "184901" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 9 "{{individualid}}" "{{diseaseid}}" "00058589" "01220" "00081220" "05184" "00163910" "00198" "00231471" "05597" "00231479" "05597" "00231541" "05597" "00231564" "05597" "00325870" "00198" "00380395" "01220" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01220, 05184, 05597 ## Count = 9 "{{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}}" "0000045184" "01220" "00058589" "01396" "Familial, autosomal dominant" "14y" "" "?" "16y" "type 2 collagenopathy" "" "" "" "" "" "" "" "" "0000060797" "05184" "00081220" "00006" "Familial" "" "family, 46,XX testicular disorder of sex development; 1 male (4 children, 2 carrier sons) and 3 adult males (two brothers, paternal uncle) female karyotype (46,XX) and negative for SRY gene." "" "" "" "" "" "" "" "" "" "" "" "0000129022" "00198" "00163910" "01807" "Unknown" "" "Talipes equinovarus (HP:0001762); Short stature (HP:0004322)" "" "" "" "" "" "" "" "" "" "" "" "0000173862" "05597" "00231471" "00006" "Unknown" "" "disorder of sex development" "" "" "" "" "" "" "" "" "" "46,XY disorder of sex development" "" "0000173870" "05597" "00231479" "00006" "Unknown" "" "disorder of sex development" "" "" "" "" "" "" "" "" "" "46,XY disorder of sex development" "" "0000173932" "05597" "00231541" "00006" "Unknown" "" "syndromic, shortened long bones" "" "" "" "" "" "" "" "" "" "46,XY disorder of sex development" "" "0000173955" "05597" "00231564" "00006" "Unknown" "" "disorder of sex development" "" "" "" "" "" "" "" "" "" "46,XY disorder of sex development" "" "0000244357" "00198" "00325870" "01807" "Unknown" "" "Hydronephrosis (HP:0000126); Pierre-Robin sequence (HP:0000201); Retrognathia (HP:0000278); Delayed speech and language development (HP:0000750); Pectus excavatum (HP:0000767); Muscular hypotonia (HP:0001252); Right ventricular hypertrophy (HP:0001667); Sex reversal (HP:0012245)" "" "" "" "" "" "" "" "" "" "" "" "0000274245" "01220" "00380395" "01164" "Isolated (sporadic)" "" "prenatal ultrasound abnormalities: Dysplastic sacrum, Micromelia, Hyperechogenic kidneys, Fetal cystic hygroma" "" "" "" "" "" "" "" "" "" "prenatal" "" ## Screenings ## Do not remove or alter this header ## ## Count = 9 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000058552" "00058589" "1" "01396" "01396" "2016-02-01 20:42:22" "" "" "SEQ" "DNA" "blood" "" "0000081332" "00081220" "1" "00006" "00006" "2016-09-23 12:59:18" "" "" "arraySNP" "DNA" "" "" "0000164774" "00163910" "1" "01807" "01807" "2018-04-23 08:51:11" "" "" "SEQ" "DNA" "" "" "0000232570" "00231471" "1" "00006" "00006" "2019-05-03 12:21:09" "" "" "SEQ-NG" "DNA" "" "1031 gene panel" "0000232578" "00231479" "1" "00006" "00006" "2019-05-03 12:21:09" "" "" "SEQ-NG" "DNA" "" "1031 gene panel" "0000232640" "00231541" "1" "00006" "00006" "2019-05-03 12:21:09" "" "" "SEQ-NG" "DNA" "" "1031 gene panel" "0000232663" "00231564" "1" "00006" "00006" "2019-05-03 12:21:09" "" "" "SEQ-NG" "DNA" "" "1031 gene panel" "0000327080" "00325870" "1" "01807" "01807" "2021-01-04 12:41:01" "" "" "SEQ" "DNA" "" "" "0000381609" "00380395" "1" "01164" "01164" "2021-08-16 11:52:48" "" "" "SEQ-NG-I" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 9 "{{screeningid}}" "{{geneid}}" "0000058552" "COL2A1" "0000058552" "SOX9" "0000232570" "SOX9" "0000232578" "SOX9" "0000232640" "SOX9" "0000232663" "AR" "0000232663" "HSD17B3" "0000232663" "SOX9" "0000381609" "SOX9" ## 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 = 73 "{{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}}" "0000089172" "0" "70" "17" "72122717" "72122717" "subst" "0" "01396" "SOX9_000001" "g.72122717A>T" "" "" "" "" "not in 100 chromosomes tested, de novo in patient" "De novo" "" "" "0" "" "" "g.74126578A>T" "" "likely pathogenic" "" "0000130452" "11" "90" "17" "69330000" "69517000" "" "0" "00006" "SOX9_000002" "g.(69320000_69330000)_(69527000_69517000)dup" "" "{PMID:Cox 2011:21208124}, {DOI:Cox 2011:10.1056/NEJMc1010311}, {OMIM608160:00014}" "" "reported on hg18" "178 kb duplication" "Germline" "" "" "0" "" "46,XX" "" "" "pathogenic" "" "0000251046" "0" "10" "17" "70119709" "70119709" "subst" "0" "02326" "SOX9_000009" "g.70119709A>C" "" "" "" "SOX9(NM_000346.3):c.711A>C (p.P237=), SOX9(NM_000346.4):c.711A>C (p.P237=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72123568A>C" "" "benign" "" "0000302401" "0" "10" "17" "70120111" "70120111" "subst" "0.0309373" "02326" "SOX9_000011" "g.70120111G>A" "" "" "" "SOX9(NM_000346.3):c.1113G>A (p.A371=), SOX9(NM_000346.4):c.1113G>A (p.A371=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72123970G>A" "" "benign" "" "0000302402" "0" "10" "17" "70118935" "70118935" "subst" "0.193679" "02326" "SOX9_000006" "g.70118935C>T" "" "" "" "SOX9(NM_000346.3):c.507C>T (p.H169=), SOX9(NM_000346.4):c.507C>T (p.H169=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72122794C>T" "" "benign" "" "0000308733" "0" "90" "17" "70120121" "70120121" "subst" "0" "01943" "SOX9_000012" "g.70120121C>T" "" "" "" "SOX9(NM_000346.3):c.1123C>T (p.Q375*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72123980C>T" "" "pathogenic" "" "0000308734" "0" "10" "17" "70120165" "70120165" "subst" "2.96279E-5" "01943" "SOX9_000013" "g.70120165G>A" "" "" "" "SOX9(NM_000346.3):c.1167G>A (p.P389=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72124024G>A" "" "benign" "" "0000308735" "0" "90" "17" "70120178" "70120178" "subst" "0" "01943" "SOX9_000014" "g.70120178C>T" "" "" "" "SOX9(NM_000346.3):c.1180C>T (p.R394*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72124037C>T" "" "pathogenic" "" "0000308736" "0" "90" "17" "70117865" "70117865" "del" "0" "01943" "SOX9_000003" "g.70117865del" "" "" "" "SOX9(NM_000346.3):c.333delC (p.F112Sfs*35)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72121724del" "" "pathogenic" "" "0000308737" "0" "90" "17" "70117868" "70117868" "subst" "0" "01943" "SOX9_000004" "g.70117868C>A" "" "" "" "SOX9(NM_000346.3):c.336C>A (p.F112L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72121727C>A" "" "pathogenic" "" "0000308738" "0" "90" "17" "70117961" "70117961" "subst" "0" "01943" "SOX9_000005" "g.70117961G>T" "" "" "" "SOX9(NM_000346.3):c.429G>T (p.W143C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72121820G>T" "" "pathogenic" "" "0000308739" "0" "10" "17" "70118935" "70118935" "subst" "0.193679" "01943" "SOX9_000006" "g.70118935C>T" "" "" "" "SOX9(NM_000346.3):c.507C>T (p.H169=), SOX9(NM_000346.4):c.507C>T (p.H169=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72122794C>T" "" "benign" "" "0000308740" "0" "10" "17" "70119121" "70119121" "subst" "0.00407053" "01943" "SOX9_000007" "g.70119121G>A" "" "" "" "SOX9(NM_000346.3):c.685+8G>A (p.(=)), SOX9(NM_000346.4):c.685+8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72122980G>A" "" "benign" "" "0000308741" "0" "10" "17" "70119715" "70119715" "subst" "0.000102065" "01943" "SOX9_000010" "g.70119715C>T" "" "" "" "SOX9(NM_000346.3):c.717C>T (p.T239=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72123574C>T" "" "benign" "" "0000325570" "0" "30" "17" "70119121" "70119121" "subst" "0.00407053" "01804" "SOX9_000007" "g.70119121G>A" "" "" "" "SOX9(NM_000346.3):c.685+8G>A (p.(=)), SOX9(NM_000346.4):c.685+8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72122980G>A" "" "likely benign" "" "0000325571" "0" "30" "17" "70119704" "70119704" "subst" "0" "01804" "SOX9_000008" "g.70119704A>C" "" "" "" "SOX9(NM_000346.3):c.706A>C (p.T236P, p.(Thr236Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72123563A>C" "" "likely benign" "" "0000347961" "0" "90" "17" "70118888" "70118888" "subst" "0" "02327" "SOX9_000015" "g.70118888T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72122747T>C" "" "pathogenic" "" "0000368376" "0" "90" "17" "70118903" "70118913" "del" "0" "01807" "SOX9_000016" "g.70118903_70118913del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.72122762_72122772del" "" "pathogenic" "" "0000475054" "1" "50" "17" "70120436" "70120436" "subst" "0" "00006" "SOX9_000020" "g.70120436A>C" "" "{PMID:Eggers 2016:27899157}" "" "" "" "Germline" "" "" "0" "" "46,XY" "g.72124295A>C" "" "VUS" "" "0000475055" "1" "50" "17" "70120043" "70120043" "subst" "0.000125723" "00006" "SOX9_000018" "g.70120043C>T" "" "{PMID:Eggers 2016:27899157}" "" "" "" "Germline" "" "" "0" "" "46,XY" "g.72123902C>T" "" "VUS" "" "0000475056" "1" "90" "17" "70120294" "70120294" "subst" "0" "00006" "SOX9_000019" "g.70120294C>A" "" "{PMID:Eggers 2016:27899157}" "" "" "" "De novo" "" "" "0" "" "46,XY" "g.72124153C>A" "" "pathogenic" "" "0000475057" "1" "50" "17" "70119782" "70119782" "subst" "8.13597E-6" "00006" "SOX9_000017" "g.70119782G>C" "" "{PMID:Eggers 2016:27899157}" "" "" "" "Germline" "" "" "0" "" "46,XY" "g.72123641G>C" "" "VUS" "" "0000562889" "0" "30" "17" "70117608" "70117608" "subst" "0.000564887" "01804" "SOX9_000021" "g.70117608A>G" "" "" "" "SOX9(NM_000346.3):c.76A>G (p.(Met26Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.72121467A>G" "" "likely benign" "" "0000562890" "0" "50" "17" "70117815" "70117815" "subst" "0" "01804" "SOX9_000022" "g.70117815G>C" "" "" "" "SOX9(NM_000346.3):c.283G>C (p.(Val95Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.72121674G>C" "" "VUS" "" "0000562893" "0" "10" "17" "70118935" "70118935" "subst" "0.193679" "02327" "SOX9_000006" "g.70118935C>T" "" "" "" "SOX9(NM_000346.3):c.507C>T (p.H169=), SOX9(NM_000346.4):c.507C>T (p.H169=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.72122794C>T" "" "benign" "" "0000562894" "0" "90" "17" "70118951" "70118951" "subst" "0" "02327" "SOX9_000025" "g.70118951C>T" "" "" "" "SOX9(NM_000346.4):c.523C>T (p.Q175*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.72122810C>T" "" "pathogenic" "" "0000562895" "0" "90" "17" "70118955" "70118955" "subst" "0" "02327" "SOX9_000026" "g.70118955C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.72122814C>T" "" "pathogenic" "" "0000562897" "0" "10" "17" "70119708" "70119708" "dup" "0" "01943" "SOX9_000028" "g.70119708dup" "" "" "" "SOX9(NM_000346.3):c.710dupC (p.(Pro238Thrfs*14)), SOX9(NM_000346.3):c.710dupC (p.P238Tfs*14)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.72123567dup" "" "benign" "" "0000562898" "0" "30" "17" "70119708" "70119708" "dup" "0" "01804" "SOX9_000028" "g.70119708dup" "" "" "" "SOX9(NM_000346.3):c.710dupC (p.(Pro238Thrfs*14)), SOX9(NM_000346.3):c.710dupC (p.P238Tfs*14)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.72123567dup" "" "likely benign" "" "0000562899" "0" "10" "17" "70119709" "70119709" "subst" "0" "01943" "SOX9_000009" "g.70119709A>C" "" "" "" "SOX9(NM_000346.3):c.711A>C (p.P237=), SOX9(NM_000346.4):c.711A>C (p.P237=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.72123568A>C" "" "benign" "" "0000562901" "0" "10" "17" "70119713" "70119713" "subst" "0" "01943" "SOX9_000029" "g.70119713A>C" "" "" "" "SOX9(NM_000346.3):c.715A>C (p.T239P, p.(Thr239Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.72123572A>C" "" "benign" "" "0000562902" "0" "30" "17" "70119713" "70119713" "subst" "0" "01804" "SOX9_000029" "g.70119713A>C" "" "" "" "SOX9(NM_000346.3):c.715A>C (p.T239P, p.(Thr239Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.72123572A>C" "" "likely benign" "" "0000562903" "0" "10" "17" "70119716" "70119716" "subst" "0" "01943" "SOX9_000030" "g.70119716A>C" "" "" "" "SOX9(NM_000346.3):c.718A>C (p.T240P, p.(Thr240Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.72123575A>C" "" "benign" "" "0000562904" "0" "30" "17" "70119716" "70119716" "subst" "0" "01804" "SOX9_000030" "g.70119716A>C" "" "" "" "SOX9(NM_000346.3):c.718A>C (p.T240P, p.(Thr240Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.72123575A>C" "" "likely benign" "" "0000562905" "0" "10" "17" "70119722" "70119722" "subst" "0" "01804" "SOX9_000031" "g.70119722A>C" "" "" "" "SOX9(NM_000346.3):c.724A>C (p.(Lys242Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.72123581A>C" "" "benign" "" "0000562906" "0" "90" "17" "70119735" "70119735" "del" "0" "02327" "SOX9_000032" "g.70119735del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.72123594del" "" "pathogenic" "" "0000562907" "0" "50" "17" "70119842" "70119842" "subst" "0" "01804" "SOX9_000033" "g.70119842G>T" "" "" "" "SOX9(NM_000346.3):c.844G>T (p.(Val282Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.72123701G>T" "" "VUS" "" "0000562908" "0" "70" "17" "70120313" "70120313" "subst" "0" "02327" "SOX9_000034" "g.70120313C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.72124172C>T" "" "likely pathogenic" "" "0000562909" "0" "30" "17" "70120318" "70120318" "subst" "0.000328499" "01943" "SOX9_000035" "g.70120318C>T" "" "" "" "SOX9(NM_000346.3):c.1320C>T (p.Y440=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.72124177C>T" "" "likely benign" "" "0000562910" "0" "10" "17" "70120551" "70120551" "subst" "0.407437" "01943" "SOX9_000036" "g.70120551A>C" "" "" "" "SOX9(NM_000346.3):c.*23A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.72124410A>C" "" "benign" "" "0000616782" "0" "70" "17" "70117888" "70117888" "subst" "0" "01804" "SOX9_000037" "g.70117888C>A" "" "" "" "SOX9(NM_000346.3):c.356C>A (p.(Ala119Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.72121747C>A" "" "likely pathogenic" "" "0000616783" "0" "30" "17" "70119120" "70119120" "subst" "6.61994E-5" "01804" "SOX9_000038" "g.70119120C>T" "" "" "" "SOX9(NM_000346.3):c.685+7C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.72122979C>T" "" "likely benign" "" "0000616784" "0" "70" "17" "70119956" "70119960" "dup" "0" "01804" "SOX9_000039" "g.70119956_70119960dup" "" "" "" "SOX9(NM_000346.3):c.957_958insGGCAT (p.(Ile321MetfsTer64))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.72123815_72123819dup" "" "likely pathogenic" "" "0000616785" "0" "10" "17" "70120111" "70120111" "subst" "0.0309373" "01943" "SOX9_000011" "g.70120111G>A" "" "" "" "SOX9(NM_000346.3):c.1113G>A (p.A371=), SOX9(NM_000346.4):c.1113G>A (p.A371=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.72123970G>A" "" "benign" "" "0000616786" "0" "30" "17" "70120319" "70120319" "subst" "2.87328E-5" "01804" "SOX9_000041" "g.70120319G>A" "" "" "" "SOX9(NM_000346.3):c.1321G>A (p.(Asp441Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.72124178G>A" "" "likely benign" "" "0000623751" "0" "30" "17" "70119991" "70119991" "subst" "0.000367895" "01943" "SOX9_000040" "g.70119991G>A" "" "" "" "SOX9(NM_000346.3):c.993G>A (p.A331=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.72123850G>A" "" "likely benign" "" "0000658238" "0" "50" "17" "70119704" "70119704" "subst" "0" "01943" "SOX9_000008" "g.70119704A>C" "" "" "" "SOX9(NM_000346.3):c.706A>C (p.T236P, p.(Thr236Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.72123563A>C" "" "VUS" "" "0000658239" "0" "50" "17" "70120419" "70120419" "subst" "0" "02327" "SOX9_000042" "g.70120419G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.72124278G>T" "" "VUS" "" "0000680998" "0" "50" "17" "70119118" "70119118" "subst" "0" "01943" "SOX9_000043" "g.70119118G>A" "" "" "" "SOX9(NM_000346.3):c.685+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000692452" "0" "70" "17" "70120426" "70120426" "del" "0" "01804" "SOX9_000044" "g.70120426del" "" "" "" "SOX9(NM_000346.3):c.1428del (p.(Met476Ilefs*47))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000710712" "0" "70" "17" "70118936" "70118936" "subst" "0" "01807" "SOX9_000045" "g.70118936C>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000726642" "0" "70" "17" "70118881" "70118881" "subst" "0" "02325" "SOX9_000046" "g.70118881G>C" "" "" "" "SOX9(NM_000346.4):c.453G>C (p.K151N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000726643" "0" "50" "17" "70118904" "70118904" "subst" "0" "02329" "SOX9_000024" "g.70118904A>G" "" "" "" "SOX9(NM_000346.3):c.476A>G (p.E159G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000726644" "0" "50" "17" "70119972" "70119972" "subst" "0" "02325" "SOX9_000047" "g.70119972C>T" "" "" "" "SOX9(NM_000346.4):c.974C>T (p.A325V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000726645" "0" "50" "17" "70119992" "70119992" "subst" "1.03963E-5" "01804" "SOX9_000048" "g.70119992G>A" "" "" "" "SOX9(NM_000346.3):c.994G>A (p.(Gly332Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000726646" "0" "90" "17" "70120040" "70120040" "subst" "0" "02327" "SOX9_000049" "g.70120040C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000795093" "0" "70" "17" "70119814" "70119815" "ins" "0" "01164" "SOX9_000050" "g.70119814_70119815insTCCGTGAC" "" "PMID: 26432670" "" "" "ACMG: PVS1_STR, PS2_MOD, PM2_SUP" "De novo" "yes" "" "" "" "" "" "" "likely pathogenic (dominant)" "ACMG" "0000855077" "0" "30" "17" "70119121" "70119121" "subst" "0.00407053" "02326" "SOX9_000007" "g.70119121G>A" "" "" "" "SOX9(NM_000346.3):c.685+8G>A (p.(=)), SOX9(NM_000346.4):c.685+8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894227" "0" "90" "17" "70118988" "70118988" "dup" "0" "02327" "SOX9_000051" "g.70118988dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000894228" "0" "90" "17" "70120301" "70120307" "dup" "0" "02329" "SOX9_000052" "g.70120301_70120307dup" "" "" "" "SOX9(NM_000346.4):c.1303_1309dupATCACCC (p.R437Hfs*143)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000951027" "0" "90" "17" "70118951" "70118951" "subst" "0" "02325" "SOX9_000025" "g.70118951C>T" "" "" "" "SOX9(NM_000346.4):c.523C>T (p.Q175*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000982750" "0" "50" "17" "70117618" "70117618" "subst" "0" "01804" "SOX9_000053" "g.70117618A>T" "" "" "" "SOX9(NM_000346.4):c.86A>T (p.(Asp29Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000982751" "0" "50" "17" "70117842" "70117842" "subst" "0" "01804" "SOX9_000054" "g.70117842C>T" "" "" "" "SOX9(NM_000346.4):c.310C>T (p.(His104Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000982752" "0" "70" "17" "70118934" "70118934" "subst" "0" "01804" "SOX9_000055" "g.70118934A>G" "" "" "" "SOX9(NM_000346.4):c.506A>G (p.(His169Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000982753" "0" "50" "17" "70119968" "70119968" "subst" "0" "01804" "SOX9_000056" "g.70119968A>C" "" "" "" "SOX9(NM_000346.4):c.970A>C (p.(Thr324Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001003626" "0" "50" "17" "70117684" "70117684" "subst" "0" "01804" "SOX9_000057" "g.70117684A>T" "" "" "" "SOX9(NM_000346.3):c.152A>T (p.(Asn51Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001003627" "0" "70" "17" "70117799" "70117816" "del" "0" "02329" "SOX9_000058" "g.70117799_70117816del" "" "" "" "SOX9(NM_000346.4):c.267_284delGCCCATGCCGGTGCGCGT (p.P90_V95del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001003628" "0" "10" "17" "70119715" "70119715" "dup" "0" "01804" "SOX9_000059" "g.70119715dup" "" "" "" "SOX9(NM_000346.3):c.717dupC (p.(Thr240fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001003629" "0" "30" "17" "70119735" "70119735" "subst" "3.26355E-5" "01804" "SOX9_000060" "g.70119735A>C" "" "" "" "SOX9(NM_000346.3):c.737A>C (p.(Gln246Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001015612" "0" "70" "17" "70117927" "70117927" "subst" "0" "02325" "SOX9_000061" "g.70117927A>C" "" "" "" "SOX9(NM_000346.4):c.395A>C (p.N132T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001015613" "0" "50" "17" "70120311" "70120311" "subst" "0" "02325" "SOX9_000062" "g.70120311C>T" "" "" "" "SOX9(NM_000346.4):c.1313C>T (p.S438L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042142" "0" "50" "17" "70119005" "70119005" "subst" "4.06266E-6" "01804" "SOX9_000063" "g.70119005A>G" "" "" "" "SOX9(NM_000346.4):c.577A>G (p.(Thr193Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042143" "0" "50" "17" "70119824" "70119824" "subst" "0" "01804" "SOX9_000064" "g.70119824G>T" "" "" "" "SOX9(NM_000346.4):c.826G>T (p.(Gly276Cys))" "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 SOX9 ## Count = 73 "{{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}}" "0000089172" "00020044" "70" "432" "-2" "432" "-2" "c.432-2A>T" "r.spl" "p.?" "1i" "0000130452" "00020044" "90" "-787000" "0" "-600000" "0" "c.-787000_-600000dup" "r.?" "p.?" "_1" "0000251046" "00020044" "10" "711" "0" "711" "0" "c.711A>C" "r.(?)" "p.(Pro237=)" "" "0000302401" "00020044" "10" "1113" "0" "1113" "0" "c.1113G>A" "r.(?)" "p.(Ala371=)" "" "0000302402" "00020044" "10" "507" "0" "507" "0" "c.507C>T" "r.(?)" "p.(His169=)" "" "0000308733" "00020044" "90" "1123" "0" "1123" "0" "c.1123C>T" "r.(?)" "p.(Gln375Ter)" "" "0000308734" "00020044" "10" "1167" "0" "1167" "0" "c.1167G>A" "r.(?)" "p.(Pro389=)" "" "0000308735" "00020044" "90" "1180" "0" "1180" "0" "c.1180C>T" "r.(?)" "p.(Arg394Ter)" "" "0000308736" "00020044" "90" "333" "0" "333" "0" "c.333del" "r.(?)" "p.(Phe112SerfsTer35)" "" "0000308737" "00020044" "90" "336" "0" "336" "0" "c.336C>A" "r.(?)" "p.(Phe112Leu)" "" "0000308738" "00020044" "90" "429" "0" "429" "0" "c.429G>T" "r.(?)" "p.(Trp143Cys)" "" "0000308739" "00020044" "10" "507" "0" "507" "0" "c.507C>T" "r.(?)" "p.(His169=)" "" "0000308740" "00020044" "10" "685" "8" "685" "8" "c.685+8G>A" "r.(=)" "p.(=)" "" "0000308741" "00020044" "10" "717" "0" "717" "0" "c.717C>T" "r.(?)" "p.(Thr239=)" "" "0000325570" "00020044" "30" "685" "8" "685" "8" "c.685+8G>A" "r.(=)" "p.(=)" "" "0000325571" "00020044" "30" "706" "0" "706" "0" "c.706A>C" "r.(?)" "p.(Thr236Pro)" "" "0000347961" "00020044" "90" "460" "0" "460" "0" "c.460T>C" "r.(?)" "p.(Phe154Leu)" "" "0000368376" "00020044" "90" "475" "0" "485" "0" "c.475_485del" "r.(?)" "p.(Glu159Argfs*89)" "" "0000475054" "00020044" "50" "1438" "0" "1438" "0" "c.1438A>C" "r.(?)" "p.(Ile480Leu)" "" "0000475055" "00020044" "50" "1045" "0" "1045" "0" "c.1045C>T" "r.(?)" "p.(Pro349Ser)" "" "0000475056" "00020044" "90" "1296" "0" "1296" "0" "c.1296C>A" "r.(?)" "p.(Tyr432*)" "" "0000475057" "00020044" "50" "784" "0" "784" "0" "c.784G>C" "r.(?)" "p.(Gly262Arg)" "" "0000562889" "00020044" "30" "76" "0" "76" "0" "c.76A>G" "r.(?)" "p.(Met26Val)" "" "0000562890" "00020044" "50" "283" "0" "283" "0" "c.283G>C" "r.(?)" "p.(Val95Leu)" "" "0000562893" "00020044" "10" "507" "0" "507" "0" "c.507C>T" "r.(?)" "p.(His169=)" "" "0000562894" "00020044" "90" "523" "0" "523" "0" "c.523C>T" "r.(?)" "p.(Gln175Ter)" "" "0000562895" "00020044" "90" "527" "0" "527" "0" "c.527C>T" "r.(?)" "p.(Pro176Leu)" "" "0000562897" "00020044" "10" "710" "0" "710" "0" "c.710dup" "r.(?)" "p.(Pro238ThrfsTer14)" "" "0000562898" "00020044" "30" "710" "0" "710" "0" "c.710dup" "r.(?)" "p.(Pro238ThrfsTer14)" "" "0000562899" "00020044" "10" "711" "0" "711" "0" "c.711A>C" "r.(?)" "p.(Pro237=)" "" "0000562901" "00020044" "10" "715" "0" "715" "0" "c.715A>C" "r.(?)" "p.(Thr239Pro)" "" "0000562902" "00020044" "30" "715" "0" "715" "0" "c.715A>C" "r.(?)" "p.(Thr239Pro)" "" "0000562903" "00020044" "10" "718" "0" "718" "0" "c.718A>C" "r.(?)" "p.(Thr240Pro)" "" "0000562904" "00020044" "30" "718" "0" "718" "0" "c.718A>C" "r.(?)" "p.(Thr240Pro)" "" "0000562905" "00020044" "10" "724" "0" "724" "0" "c.724A>C" "r.(?)" "p.(Lys242Gln)" "" "0000562906" "00020044" "90" "737" "0" "737" "0" "c.737del" "r.(?)" "p.(Gln246ArgfsTer7)" "" "0000562907" "00020044" "50" "844" "0" "844" "0" "c.844G>T" "r.(?)" "p.(Val282Phe)" "" "0000562908" "00020044" "70" "1315" "0" "1315" "0" "c.1315C>T" "r.(?)" "p.(Gln439Ter)" "" "0000562909" "00020044" "30" "1320" "0" "1320" "0" "c.1320C>T" "r.(?)" "p.(Tyr440=)" "" "0000562910" "00020044" "10" "1553" "0" "1553" "0" "c.*23A>C" "r.(=)" "p.(=)" "" "0000616782" "00020044" "70" "356" "0" "356" "0" "c.356C>A" "r.(?)" "p.(Ala119Glu)" "" "0000616783" "00020044" "30" "685" "7" "685" "7" "c.685+7C>T" "r.(=)" "p.(=)" "" "0000616784" "00020044" "70" "958" "0" "962" "0" "c.958_962dup" "r.(?)" "p.(Ile321MetfsTer64)" "" "0000616785" "00020044" "10" "1113" "0" "1113" "0" "c.1113G>A" "r.(?)" "p.(Ala371=)" "" "0000616786" "00020044" "30" "1321" "0" "1321" "0" "c.1321G>A" "r.(?)" "p.(Asp441Asn)" "" "0000623751" "00020044" "30" "993" "0" "993" "0" "c.993G>A" "r.(?)" "p.(Ala331=)" "" "0000658238" "00020044" "50" "706" "0" "706" "0" "c.706A>C" "r.(?)" "p.(Thr236Pro)" "" "0000658239" "00020044" "50" "1421" "0" "1421" "0" "c.1421G>T" "r.(?)" "p.(Arg474Leu)" "" "0000680998" "00020044" "50" "685" "5" "685" "5" "c.685+5G>A" "r.spl?" "p.?" "" "0000692452" "00020044" "70" "1428" "0" "1428" "0" "c.1428del" "r.(?)" "p.(Met476IlefsTer47)" "" "0000710712" "00020044" "70" "508" "0" "508" "0" "c.508C>G" "r.(?)" "p.(Pro170Ala)" "" "0000726642" "00020044" "70" "453" "0" "453" "0" "c.453G>C" "r.(?)" "p.(Lys151Asn)" "" "0000726643" "00020044" "50" "476" "0" "476" "0" "c.476A>G" "r.(?)" "p.(Glu159Gly)" "" "0000726644" "00020044" "50" "974" "0" "974" "0" "c.974C>T" "r.(?)" "p.(Ala325Val)" "" "0000726645" "00020044" "50" "994" "0" "994" "0" "c.994G>A" "r.(?)" "p.(Gly332Ser)" "" "0000726646" "00020044" "90" "1042" "0" "1042" "0" "c.1042C>T" "r.(?)" "p.(Gln348*)" "" "0000795093" "00020044" "70" "816" "0" "817" "0" "c.816_817insTCCGTGAC" "r.(?)" "p.(Val273Serfs*9)" "" "0000855077" "00020044" "30" "685" "8" "685" "8" "c.685+8G>A" "r.(=)" "p.(=)" "" "0000894227" "00020044" "90" "560" "0" "560" "0" "c.560dup" "r.(?)" "p.(Glu188Glyfs*64)" "" "0000894228" "00020044" "90" "1303" "0" "1309" "0" "c.1303_1309dup" "r.(?)" "p.(Arg437Hisfs*143)" "" "0000951027" "00020044" "90" "523" "0" "523" "0" "c.523C>T" "r.(?)" "p.(Gln175Ter)" "" "0000982750" "00020044" "50" "86" "0" "86" "0" "c.86A>T" "r.(?)" "p.(Asp29Val)" "" "0000982751" "00020044" "50" "310" "0" "310" "0" "c.310C>T" "r.(?)" "p.(His104Tyr)" "" "0000982752" "00020044" "70" "506" "0" "506" "0" "c.506A>G" "r.(?)" "p.(His169Arg)" "" "0000982753" "00020044" "50" "970" "0" "970" "0" "c.970A>C" "r.(?)" "p.(Thr324Pro)" "" "0001003626" "00020044" "50" "152" "0" "152" "0" "c.152A>T" "r.(?)" "p.(Asn51Ile)" "" "0001003627" "00020044" "70" "267" "0" "284" "0" "c.267_284del" "r.(?)" "p.(Pro90_Val95del)" "" "0001003628" "00020044" "10" "717" "0" "717" "0" "c.717dup" "r.(?)" "p.(Thr240HisfsTer12)" "" "0001003629" "00020044" "30" "737" "0" "737" "0" "c.737A>C" "r.(?)" "p.(Gln246Pro)" "" "0001015612" "00020044" "70" "395" "0" "395" "0" "c.395A>C" "r.(?)" "p.(Asn132Thr)" "" "0001015613" "00020044" "50" "1313" "0" "1313" "0" "c.1313C>T" "r.(?)" "p.(Ser438Leu)" "" "0001042142" "00020044" "50" "577" "0" "577" "0" "c.577A>G" "r.(?)" "p.(Thr193Ala)" "" "0001042143" "00020044" "50" "826" "0" "826" "0" "c.826G>T" "r.(?)" "p.(Gly276Cys)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 9 "{{screeningid}}" "{{variantid}}" "0000058552" "0000089172" "0000081332" "0000130452" "0000164774" "0000368376" "0000232570" "0000475054" "0000232578" "0000475055" "0000232640" "0000475056" "0000232663" "0000475057" "0000327080" "0000710712" "0000381609" "0000795093"