### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = IYD) # 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}}" "IYD" "iodotyrosine deiodinase" "6" "q25.1" "unknown" "NG_016007.2" "UD_132118739969" "" "https://www.LOVD.nl/IYD" "" "1" "21071" "389434" "612025" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/IYD_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-10-15 15:52:43" "00000" "2024-10-29 21:08:56" ## Transcripts ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00010242" "IYD" "transcript variant 2" "003" "NM_203395.2" "" "NP_981932.1" "" "" "" "-140" "7262" "870" "150690028" "150725765" "" "0000-00-00 00:00:00" "" "" "00025470" "IYD" "transcript variant 1" "004" "NM_001164694.1" "" "NP_001158166.1" "" "" "" "-140" "7374" "882" "150690028" "150725765" "00006" "2019-10-15 15:56:53" "" "" ## 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}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "02100" "TDH4" "thyroid dyshormonogenesis, type 4 (TDH-4, iodotyrosine deiodination defect)" "AR" "274800" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05659" "TDH" "thyroid dyshormonogenesis (TDH)" "" "" "" "" "" "00006" "2019-10-15 02:53:08" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "IYD" "02100" "IYD" "05659" ## Individuals ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00266145" "" "" "" "1" "" "03449" "" "" "" "" "" "" "0" "" "" "" "" "00266146" "" "" "" "1" "" "03449" "" "" "" "" "" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{individualid}}" "{{diseaseid}}" "00266145" "00000" "00266146" "02100" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 02100, 05659 ## 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}}" "0000203925" "02100" "00266146" "03449" "Familial" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000267267" "00266145" "1" "03449" "03449" "2019-10-14 18:01:34" "" "" "?" "RNA" "" "" "0000267268" "00266146" "1" "03449" "03449" "2019-10-14 18:12:42" "" "" "SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000267267" "IYD" "0000267268" "IYD" ## 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 = 21 "{{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}}" "0000246474" "0" "10" "6" "150710632" "150710632" "subst" "0.00292041" "02330" "IYD_000004" "g.150710632A>G" "" "" "" "IYD(NM_001164694.2):c.323A>G (p.N108S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150389496A>G" "" "benign" "" "0000278131" "0" "10" "6" "150719380" "150719380" "subst" "0.115297" "02330" "IYD_000014" "g.150719380C>T" "" "" "" "IYD(NM_001164694.2):c.*107C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150398244C>T" "" "benign" "" "0000278132" "0" "30" "6" "150710490" "150710490" "subst" "0.00294759" "02330" "IYD_000002" "g.150710490G>A" "" "" "" "IYD(NM_001164694.2):c.181G>A (p.A61T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150389354G>A" "" "likely benign" "" "0000278133" "0" "50" "6" "150710624" "150710626" "del" "0" "02330" "IYD_000003" "g.150710624_150710626del" "" "" "" "IYD(NM_001164694.2):c.315_317delCAT (p.F105_I106delinsL)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150389488_150389490del" "" "VUS" "" "0000278134" "0" "10" "6" "150713491" "150713491" "subst" "0.000406868" "02330" "IYD_000005" "g.150713491G>A" "" "" "" "IYD(NM_001164694.2):c.381G>A (p.P127=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150392355G>A" "" "benign" "" "0000278135" "0" "10" "6" "150715238" "150715238" "subst" "0.000442798" "02330" "IYD_000006" "g.150715238C>G" "" "" "" "IYD(NM_001164694.2):c.534C>G (p.T178=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150394102C>G" "" "benign" "" "0000278136" "0" "30" "6" "150715308" "150715308" "subst" "0.00222576" "02330" "IYD_000009" "g.150715308G>A" "" "" "" "IYD(NM_001164694.2):c.604G>A (p.A202T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150394172G>A" "" "likely benign" "" "0000278137" "0" "10" "6" "150716533" "150716533" "subst" "0.121984" "02330" "IYD_000010" "g.150716533T>A" "" "" "" "IYD(NM_001164695.2):c.691T>A (p.F231I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150395397T>A" "" "benign" "" "0000278138" "0" "30" "6" "150716546" "150716546" "subst" "9.99657E-5" "02330" "IYD_000007" "g.150716546T>C" "" "" "" "IYD(NM_001164695.2):c.704T>C (p.I235T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150395410T>C" "" "likely benign" "" "0000278139" "0" "10" "6" "150716673" "150716673" "subst" "0.00244874" "02330" "IYD_000011" "g.150716673G>A" "" "" "" "IYD(NM_001164694.2):c.770G>A (p.C257Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150395537G>A" "" "benign" "" "0000278140" "0" "10" "6" "150716696" "150716696" "subst" "0.877716" "02330" "IYD_000012" "g.150716696T>C" "" "" "" "IYD(NM_001164694.2):c.793T>C (p.C265R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150395560T>C" "" "benign" "" "0000278141" "0" "10" "6" "150716697" "150716697" "subst" "0.122507" "02330" "IYD_000008" "g.150716697G>A" "" "" "" "IYD(NM_001164694.2):c.794G>A (p.C265Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150395561G>A" "" "benign" "" "0000278142" "0" "10" "6" "150719314" "150719314" "subst" "0.0168087" "02330" "IYD_000013" "g.150719314G>A" "" "" "" "IYD(NM_203395.3):c.811G>A (p.E271K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150398178G>A" "" "benign" "" "0000278143" "0" "10" "6" "150690257" "150690257" "subst" "0.00117886" "02330" "IYD_000001" "g.150690257G>A" "" "" "" "IYD(NM_001164694.2):c.90G>A (p.K30=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150369121G>A" "" "benign" "" "0000281618" "0" "10" "6" "150716696" "150716696" "subst" "0.877716" "02325" "IYD_000012" "g.150716696T>C" "" "" "" "IYD(NM_001164694.2):c.793T>C (p.C265R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150395560T>C" "" "benign" "" "0000527436" "0" "30" "6" "150716612" "150716612" "subst" "0.0032627" "02330" "IYD_000015" "g.150716612C>T" "" "" "" "IYD(NM_001164694.2):c.709C>T (p.R237W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150395476C>T" "" "likely benign" "" "0000527437" "0" "50" "6" "150716651" "150716651" "subst" "0.000228402" "02330" "IYD_000016" "g.150716651C>T" "" "" "" "IYD(NM_001164694.2):c.748C>T (p.P250S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150395515C>T" "" "VUS" "" "0000527438" "0" "30" "6" "150719240" "150719240" "subst" "0.00314381" "02330" "IYD_000017" "g.150719240G>A" "" "" "" "IYD(NM_001318495.2):c.491G>A (p.R164Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150398104G>A" "" "likely benign" "" "0000598308" "0" "70" "6" "150716682" "150716682" "subst" "0" "03449" "IYD_000019" "g.150716682T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150395546T>C" "" "likely pathogenic" "" "0000598310" "11" "90" "6" "150716676" "150716676" "subst" "0" "03449" "IYD_000018" "g.150716676G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150395540G>A" "" "pathogenic" "" "0000610086" "0" "10" "6" "150690236" "150690236" "subst" "0.000134166" "02330" "IYD_000020" "g.150690236C>G" "" "" "" "IYD(NM_001164694.2):c.69C>G (p.A23=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150369100C>G" "" "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 IYD ## Count = 41 "{{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}}" "0000246474" "00010242" "10" "323" "0" "323" "0" "c.323A>G" "r.(?)" "p.(Asn108Ser)" "" "0000246474" "00025470" "10" "323" "0" "323" "0" "c.323A>G" "r.(?)" "p.(Asn108Ser)" "" "0000278131" "00010242" "10" "877" "0" "877" "0" "c.*7C>T" "r.(=)" "p.(=)" "" "0000278131" "00025470" "10" "989" "0" "989" "0" "c.*107C>T" "r.(=)" "p.(=)" "" "0000278132" "00010242" "30" "181" "0" "181" "0" "c.181G>A" "r.(?)" "p.(Ala61Thr)" "" "0000278132" "00025470" "30" "181" "0" "181" "0" "c.181G>A" "r.(?)" "p.(Ala61Thr)" "" "0000278133" "00010242" "50" "315" "0" "317" "0" "c.315_317del" "r.(?)" "p.(Phe105_Ile106delinsLeu)" "" "0000278133" "00025470" "50" "315" "0" "317" "0" "c.315_317del" "r.(?)" "p.(Phe105_Ile106delinsLeu)" "" "0000278134" "00010242" "10" "381" "0" "381" "0" "c.381G>A" "r.(?)" "p.(Pro127=)" "" "0000278134" "00025470" "10" "381" "0" "381" "0" "c.381G>A" "r.(?)" "p.(Pro127=)" "" "0000278135" "00010242" "10" "534" "0" "534" "0" "c.534C>G" "r.(?)" "p.(Thr178=)" "" "0000278135" "00025470" "10" "534" "0" "534" "0" "c.534C>G" "r.(?)" "p.(Thr178=)" "" "0000278136" "00010242" "30" "604" "0" "604" "0" "c.604G>A" "r.(?)" "p.(Ala202Thr)" "" "0000278136" "00025470" "30" "604" "0" "604" "0" "c.604G>A" "r.(?)" "p.(Ala202Thr)" "" "0000278137" "00010242" "10" "687" "1142" "687" "1142" "c.687+1142T>A" "r.(=)" "p.(=)" "" "0000278137" "00025470" "10" "688" "-58" "688" "-58" "c.688-58T>A" "r.(=)" "p.(=)" "" "0000278138" "00010242" "30" "687" "1155" "687" "1155" "c.687+1155T>C" "r.(=)" "p.(=)" "" "0000278138" "00025470" "30" "688" "-45" "688" "-45" "c.688-45T>C" "r.(=)" "p.(=)" "" "0000278139" "00010242" "10" "687" "1282" "687" "1282" "c.687+1282G>A" "r.(=)" "p.(=)" "" "0000278139" "00025470" "10" "770" "0" "770" "0" "c.770G>A" "r.(?)" "p.(Cys257Tyr)" "" "0000278140" "00010242" "10" "687" "1305" "687" "1305" "c.687+1305T>C" "r.(=)" "p.(=)" "" "0000278140" "00025470" "10" "793" "0" "793" "0" "c.793T>C" "r.(?)" "p.(Cys265Arg)" "" "0000278141" "00010242" "10" "687" "1306" "687" "1306" "c.687+1306G>A" "r.(=)" "p.(=)" "" "0000278141" "00025470" "10" "794" "0" "794" "0" "c.794G>A" "r.(?)" "p.(Cys265Tyr)" "" "0000278142" "00010242" "10" "811" "0" "811" "0" "c.811G>A" "r.(?)" "p.(Glu271Lys)" "" "0000278142" "00025470" "10" "923" "0" "923" "0" "c.*41G>A" "r.(=)" "p.(=)" "" "0000278143" "00010242" "10" "90" "0" "90" "0" "c.90G>A" "r.(?)" "p.(Lys30=)" "" "0000278143" "00025470" "10" "90" "0" "90" "0" "c.90G>A" "r.(?)" "p.(Lys30=)" "" "0000281618" "00010242" "10" "687" "1305" "687" "1305" "c.687+1305T>C" "r.(=)" "p.(=)" "" "0000281618" "00025470" "10" "793" "0" "793" "0" "c.793T>C" "r.(?)" "p.(Cys265Arg)" "" "0000527436" "00010242" "30" "687" "1221" "687" "1221" "c.687+1221C>T" "r.(=)" "p.(=)" "" "0000527436" "00025470" "30" "709" "0" "709" "0" "c.709C>T" "r.(?)" "p.(Arg237Trp)" "" "0000527437" "00010242" "50" "687" "1260" "687" "1260" "c.687+1260C>T" "r.(=)" "p.(=)" "" "0000527437" "00025470" "50" "748" "0" "748" "0" "c.748C>T" "r.(?)" "p.(Pro250Ser)" "" "0000527438" "00010242" "30" "737" "0" "737" "0" "c.737G>A" "r.(?)" "p.(Arg246Gln)" "" "0000527438" "00025470" "30" "849" "0" "849" "0" "c.849G>A" "r.(?)" "p.(Ser283=)" "" "0000598308" "00025470" "70" "779" "0" "779" "0" "c.779T>C" "r.(?)" "p.(Leu260Pro)" "" "0000598310" "00010242" "90" "687" "1285" "687" "1285" "c.687+1285G>A" "r.(?)" "p.(=)" "" "0000598310" "00025470" "90" "773" "0" "773" "0" "c.773G>A" "r.(?)" "p.(Ser258Asn)" "" "0000610086" "00010242" "10" "69" "0" "69" "0" "c.69C>G" "r.(?)" "p.(Ala23=)" "" "0000610086" "00025470" "10" "69" "0" "69" "0" "c.69C>G" "r.(?)" "p.(Ala23=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{variantid}}" "0000267267" "0000598308" "0000267268" "0000598310"