### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SHOX2) # 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}}" "SHOX2" "short stature homeobox 2" "3" "q25.32" "unknown" "NG_047079.1" "UD_133490692497" "" "https://www.LOVD.nl/SHOX2" "" "1" "10854" "6474" "602504" "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/SHOX2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-05-09 20:23:32" "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}}" "00025405" "SHOX2" "transcript variant 1" "003" "NM_003030.4" "" "NP_003021.3" "" "" "" "-139" "3084" "1068" "157823952" "157813800" "00006" "2019-05-09 20:25:14" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "03545" "SSS3" "sinus, sick, syndrome, type 3, susceptibility to" "" "614090" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2023-10-01 20:52:02" "04203" "ATFB" "fibrillation, atrial (ATFB)" "" "" "" "" "" "00006" "2015-02-20 20:57:29" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## 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}}" "00234318" "" "" "" "1" "" "03287" "{PMID:Hoffmann 2016:27138930}" "analysis 378 patients with early-onset AF (<60y)" "F" "" "Germany" "" "0" "" "" "" "" "00234319" "" "" "" "1" "" "03287" "{PMID:Hoffmann 2016:27138930}" "analysis 378 patients with early-onset AF (<60y)" "M" "" "Germany" "" "0" "" "" "" "" "00234331" "" "" "" "15" "" "03287" "{PMID:Hoffmann 2016:27138930}" "analysis 378 patients with early-onset AF (<60y)" "?" "" "Germany" "" "0" "" "" "" "" "00234332" "" "" "" "1" "" "03287" "{PMID:Hoffmann 2019:31354791}" "" "M" "" "Germany" "" "0" "" "" "" "" "00234335" "" "" "" "1" "" "03287" "{PMID:Hoffmann 2019:31354791}" "" "?" "" "Germany" "" "0" "" "" "" "" "00234336" "" "" "" "1" "" "03287" "{PMID:Hoffmann 2019:31354791}" "" "M" "" "Germany" "" "0" "" "" "" "" "00234337" "" "" "" "1" "" "03287" "{PMID:Hoffmann 2019:31354791}" "" "M" "" "Germany" "" "0" "" "" "" "" "00234338" "" "" "" "1" "" "03287" "{PMID:Hoffmann 2019:31354791}" "" "F" "" "Germany" "" "0" "" "" "" "" "00234344" "" "" "" "5" "" "00006" "{PMID:Li 2018:30443179}" "3-generation family, 5 affected (2F, 3M)" "F;M" "" "China" "" "0" "" "" "" "Fam1" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 9 "{{individualid}}" "{{diseaseid}}" "00234318" "04203" "00234319" "04203" "00234331" "04203" "00234332" "04203" "00234335" "04203" "00234336" "04203" "00234337" "04203" "00234338" "03545" "00234344" "04203" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 03545, 04203 ## Count = 8 "{{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}}" "0000174738" "04203" "00234319" "03287" "Unknown" "" "" "56y" "" "" "" "" "" "" "" "" "0000174749" "04203" "00234318" "03287" "Unknown" "" "" "51y" "" "" "" "" "" "" "" "" "0000174751" "04203" "00234331" "03287" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "0000174752" "04203" "00234332" "03287" "Unknown" "" "" "52y" "" "" "" "" "" "" "" "" "0000174756" "04203" "00234336" "03287" "Unknown" "" "" "60y" "" "" "" "" "" "" "" "" "0000174757" "04203" "00234337" "03287" "Unknown" "" "" "72y" "" "" "" "" "" "" "" "" "0000174758" "03545" "00234338" "03287" "Unknown" "" "" "88y" "" "" "" "" "" "" "" "" "0000174763" "04203" "00234344" "00006" "Familial, autosomal dominant" "20y-53y" "atrial fibrillation (permanent 2x, persistent 1x, paroxysmal 1x); ECG heart rate 62-87 beats/min, QRS interval 96-116 ms, corrected QT interval 435-528; ECG left atrial diameter 30-38mm, left ventricular ejection fraction 60-65%" "" "20y-43y" "" "" "" "" "" "" "atrial fibrillation" ## 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}}" "0000235419" "00234319" "1" "03287" "03287" "2019-05-07 12:15:04" "03287" "2019-05-08 10:26:51" "SEQ" "DNA" "Blood" "" "0000235431" "00234318" "1" "03287" "03287" "2019-05-08 09:58:17" "" "" "SEQ" "DNA" "Blood" "" "0000235433" "00234331" "1" "03287" "03287" "2019-05-08 11:00:38" "" "" "SEQ" "DNA" "Blood" "" "0000235434" "00234332" "1" "03287" "03287" "2019-05-08 11:20:32" "" "" "SEQ" "DNA" "Blood" "" "0000235437" "00234335" "1" "03287" "03287" "2019-05-08 13:17:49" "" "" "SEQ" "DNA" "Blood" "" "0000235438" "00234336" "1" "03287" "03287" "2019-05-08 13:54:14" "" "" "SEQ" "DNA" "Blood" "" "0000235439" "00234337" "1" "03287" "03287" "2019-05-08 15:03:43" "" "" "SEQ" "DNA" "Blood" "" "0000235440" "00234338" "1" "03287" "03287" "2019-05-08 15:15:15" "" "" "SEQ" "DNA" "Blood" "" "0000235446" "00234344" "1" "00006" "00006" "2019-05-09 20:43:29" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 9 "{{screeningid}}" "{{geneid}}" "0000235419" "SHOX2" "0000235431" "SHOX2" "0000235433" "SHOX2" "0000235434" "SHOX2" "0000235437" "SHOX2" "0000235438" "SHOX2" "0000235439" "SHOX2" "0000235440" "SHOX2" "0000235446" "SHOX2" ## 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 = 23 "{{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}}" "0000329681" "0" "30" "3" "157823583" "157823591" "dup" "0" "01804" "SHOX2_000001" "g.157823583_157823591dup" "" "" "" "SHOX2(NM_001163678.1):c.224_232dup (p.(Gly75_Gly77dup))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158105794_158105802dup" "" "likely benign" "" "0000478174" "0" "90" "3" "157816035" "157816035" "subst" "0" "03287" "SHOX2_000007" "g.157816035G>T" "1/378 patients" "{PMID:Hoffmann 2016:27138930}" "" "c.849C>A H283Q" "" "Germline" "?" "" "0" "" "" "g.158098246G>T" "" "pathogenic (dominant)" "" "0000478184" "0" "50" "3" "157823572" "157823572" "subst" "0" "03287" "SHOX2_000006" "g.157823572C>T" "1/378 patients" "{PMID:Hoffmann 2016:27138930}" "" "" "" "Germline" "?" "" "0" "" "" "g.158105783C>T" "" "VUS" "" "0000478186" "0" "90" "3" "157815788" "157815788" "subst" "0.00772214" "03287" "SHOX2_000008" "g.157815788A>G" "15/378 patients" "{PMID:Hoffmann 2016:27138930}" "" "" "variant in 32/1838 controls > significant association with variant and atrial fibrillation (p = 0.00515, OR = 2.373); variant creates functional binding site for hsa-miR-92b-5p" "Germline" "?" "" "0" "" "" "g.158097999A>G" "" "likely pathogenic" "" "0000478191" "0" "90" "3" "157823584" "157823584" "subst" "0" "03287" "SHOX2_000005" "g.157823584C>T" "1/450 patients" "{PMID:Hoffmann 2019:31354791}" "" "" "" "Germline" "?" "" "0" "" "" "g.158105795C>T" "" "pathogenic" "" "0000478192" "0" "50" "3" "157822878" "157822878" "subst" "9.59325E-5" "03287" "SHOX2_000009" "g.157822878C>T" "3/450 patients" "{PMID:Hoffmann 2019:31354791}" "" "Leu129=" "" "Germline" "?" "" "0" "" "" "g.158105089C>T" "" "VUS" "" "0000478193" "0" "50" "3" "157822877" "157822877" "subst" "6.85946E-6" "03287" "SHOX2_000010" "g.157822877G>A" "1/450 patients" "{PMID:Hoffmann 2019:31354791}" "" "" "" "Germline" "?" "" "0" "" "" "g.158105088G>A" "" "VUS" "" "0000478194" "0" "30" "3" "157816005" "157816005" "subst" "0.000743846" "03287" "SHOX2_000004" "g.157816005G>A" "1/450 patients" "{PMID:Hoffmann 2019:31354791}" "" "Ala293=" "" "Germline" "?" "" "0" "" "" "g.158098216G>A" "" "VUS" "" "0000478195" "0" "70" "3" "157823716" "157823716" "subst" "4.30145E-6" "03287" "SHOX2_000003" "g.157823716G>C" "1/98 patients" "{PMID:Hoffmann 2019:31354791}" "" "" "" "Germline" "?" "" "0" "" "" "g.158105927G>C" "" "likely pathogenic" "" "0000478202" "1" "90" "3" "157820514" "157820514" "subst" "0" "00006" "SHOX2_000002" "g.157820514G>A" "" "{PMID:Li 2018:30443179}" "" "" "" "Germline" "yes" "" "0" "" "" "g.158102725G>A" "" "pathogenic (dominant)" "" "0000478204" "0" "90" "3" "157820514" "157820514" "subst" "0" "00006" "SHOX2_000002" "g.157820514G>A" "" "{PMID:Li 2018:30443179}" "" "" "expression cloning luciferase assay shows inability to activate BMP4/ISL1 promoter activity" "In vitro (cloned)" "-" "" "0" "" "" "g.158102725G>A" "" "NA" "" "0000518380" "0" "30" "3" "157823669" "157823669" "subst" "0" "01804" "SHOX2_000012" "g.157823669C>G" "" "" "" "SHOX2(NM_001163678.1):c.145G>C (p.(Asp49His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.158105880C>G" "" "likely benign" "" "0000518381" "0" "30" "3" "157823677" "157823677" "subst" "0" "01804" "SHOX2_000013" "g.157823677G>C" "" "" "" "SHOX2(NM_001163678.1):c.137C>G (p.(Ala46Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.158105888G>C" "" "likely benign" "" "0000654838" "0" "50" "3" "157920895" "157920895" "subst" "0.000199716" "02325" "SHOX2_000015" "g.157920895C>T" "" "" "" "RSRC1(NM_001271838.2):c.355C>T (p.R119C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.158203106C>T" "" "VUS" "" "0000858847" "0" "50" "3" "157822870" "157822870" "subst" "7.03502E-6" "01804" "SHOX2_000016" "g.157822870G>C" "" "" "" "SHOX2(NM_003030.4):c.395C>G (p.(Pro132Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000885614" "0" "50" "3" "157817683" "157817683" "subst" "0" "01804" "SHOX2_000017" "g.157817683A>T" "" "" "" "SHOX2(NM_003030.4):c.740T>A (p.(Val247Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000911848" "0" "50" "3" "157823562" "157823576" "del" "0" "01804" "SHOX2_000018" "g.157823562_157823576del" "" "" "" "SHOX2(NM_001163678.1):c.245_259del (p.(Gly82_Gly86del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975645" "0" "30" "3" "158261981" "158261981" "subst" "0.000956461" "01804" "SHOX2_000019" "g.158261981G>A" "" "" "" "RSRC1(NM_001271838.2):c.922G>A (p.(Glu308Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993404" "0" "50" "3" "157823562" "157823579" "del" "0" "01804" "SHOX2_000020" "g.157823562_157823579del" "" "" "" "SHOX2(NM_001163678.1):c.242_259delGAGGAGCAGGCGGAGGAG (p.(Gly81_Gly86del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000993405" "0" "30" "3" "157823616" "157823636" "dup" "0" "01804" "SHOX2_000021" "g.157823616_157823636dup" "" "" "" "SHOX2(NM_001163678.1):c.207_227dupCGGCGGCGGAGGAGGCGGAGG (p.(Gly70_Gly76dup))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001033778" "0" "50" "3" "157823595" "157823603" "del" "0" "01804" "SHOX2_000022" "g.157823595_157823603del" "" "" "" "SHOX2(NM_001163678.2):c.222_230del (p.(Gly75_Gly77del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033779" "0" "50" "3" "157823713" "157823713" "subst" "4.32504E-6" "01804" "SHOX2_000023" "g.157823713A>C" "" "" "" "SHOX2(NM_001163678.2):c.101T>G (p.(Leu34Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033780" "0" "30" "3" "158178716" "158178716" "subst" "0" "01804" "SHOX2_000024" "g.158178716T>C" "" "" "" "RSRC1(NM_001271838.2):c.584-8T>C" "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 SHOX2 ## Count = 23 "{{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}}" "0000329681" "00025405" "30" "224" "0" "232" "0" "c.224_232dup" "r.(?)" "p.(Gly75_Gly77dup)" "" "0000478174" "00025405" "90" "849" "0" "849" "0" "c.849C>A" "r.(?)" "p.(His283Gln)" "" "0000478184" "00025405" "50" "242" "0" "242" "0" "c.242G>A" "r.(?)" "p.(Gly81Glu)" "" "0000478186" "00025405" "90" "1096" "0" "1096" "0" "c.*28T>C" "r.(=)" "p.(=)" "" "0000478191" "00025405" "90" "230" "0" "230" "0" "c.230G>A" "r.(?)" "p.(Gly77Asp)" "" "0000478192" "00025405" "50" "387" "0" "387" "0" "c.387G>A" "r.(?)" "p.(Leu129=)" "" "0000478193" "00025405" "50" "388" "0" "388" "0" "c.388C>T" "r.(?)" "p.(Leu130Phe)" "" "0000478194" "00025405" "30" "879" "0" "879" "0" "c.879C>T" "r.(=)" "p.(Ala293=)" "" "0000478195" "00025405" "70" "98" "0" "98" "0" "c.98C>G" "r.(?)" "p.(Pro33Arg)" "" "0000478202" "00025405" "90" "580" "0" "580" "0" "c.580C>T" "r.(?)" "p.(Arg194*)" "" "0000478204" "00025405" "90" "580" "0" "580" "0" "c.580C>T" "r.(?)" "p.Arg194*" "" "0000518380" "00025405" "30" "145" "0" "145" "0" "c.145G>C" "r.(?)" "p.(Asp49His)" "" "0000518381" "00025405" "30" "137" "0" "137" "0" "c.137C>G" "r.(?)" "p.(Ala46Gly)" "" "0000654838" "00025405" "50" "-97082" "0" "-97082" "0" "c.-97082G>A" "r.(?)" "p.(=)" "" "0000858847" "00025405" "50" "395" "0" "395" "0" "c.395C>G" "r.(?)" "p.(Pro132Arg)" "" "0000885614" "00025405" "50" "740" "0" "740" "0" "c.740T>A" "r.(?)" "p.(Val247Asp)" "" "0000911848" "00025405" "50" "245" "0" "259" "0" "c.245_259del" "r.(?)" "p.(Gly82_Gly86del)" "" "0000975645" "00025405" "30" "-438168" "0" "-438168" "0" "c.-438168C>T" "r.(?)" "p.(=)" "" "0000993404" "00025405" "50" "242" "0" "259" "0" "c.242_259del" "r.(?)" "p.(Gly81_Gly86del)" "" "0000993405" "00025405" "30" "207" "0" "227" "0" "c.207_227dup" "r.(?)" "p.(Gly71_Gly77dup)" "" "0001033778" "00025405" "50" "222" "0" "230" "0" "c.222_230del" "r.(?)" "p.(Gly75_Gly77del)" "" "0001033779" "00025405" "50" "101" "0" "101" "0" "c.101T>G" "r.(?)" "p.(Leu34Arg)" "" "0001033780" "00025405" "30" "-354903" "0" "-354903" "0" "c.-354903A>G" "r.(?)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 9 "{{screeningid}}" "{{variantid}}" "0000235419" "0000478174" "0000235431" "0000478184" "0000235433" "0000478186" "0000235434" "0000478191" "0000235437" "0000478192" "0000235438" "0000478193" "0000235439" "0000478194" "0000235440" "0000478195" "0000235446" "0000478202"