### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TMPO) # 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}}" "TMPO" "thymopoietin" "12" "q22" "unknown" "NG_021393.1" "UD_132118940453" "" "https://www.LOVD.nl/TMPO" "" "1" "11875" "7112" "188380" "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/TMPO_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2017-09-19 10:51:17" "00000" "2025-11-01 13:22:20" ## 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}}" "00021500" "TMPO" "transcript variant 1" "003" "NM_003276.2" "" "NP_003267.1" "" "" "" "-295" "3377" "2085" "98909351" "98929412" "" "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" "00351" "CMH" "cardiomyopathy, hypertrophic (CMH)" "" "" "" "" "" "00006" "2014-03-13 16:15:54" "00006" "2015-03-06 17:16:01" "00352" "CMD" "cardiomyopathy, dilated (CMD)" "" "" "" "" "" "00006" "2014-03-13 16:16:15" "00006" "2015-03-06 17:18:25" "04173" "LVNC" "ventricular noncompaction, left (LVNC)" "" "" "" "" "" "00006" "2015-01-20 15:35:56" "00006" "2015-10-12 17:03:37" ## 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}}" "00128394" "" "" "" "1" "" "02244" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "stillbirth cohort (290 cases from Sweden)" "F" "" "Sweden" "0" "" "" "" "" "91" "00290823" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290824" "" "" "" "44" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00301360" "" "" "" "2" "" "03529" "" "" "" "no" "France" "" "0" "" "" "white" "" "00301371" "" "" "" "2" "" "03529" "" "" "M" "no" "France" "" "0" "" "" "white" "" "00301617" "" "" "" "1" "" "00006" "{PMID:Taylor 2005:16247757}" "4-generation family, 3 affected (F, 2M)" "" "" "" "" "0" "" "" "" "Fam" "00304389" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00446744" "" "" "" "1" "" "00006" "{PMID:Miszalski-Jamka 2017:28798025}" "case solved" "" "" "" "" "0" "" "" "" "Pat5" "00446780" "" "" "" "1" "" "00006" "{PMID:Miszalski-Jamka 2017:28798025}" "case not solved" "" "" "" "" "0" "" "" "" "Pat56" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 9 "{{individualid}}" "{{diseaseid}}" "00128394" "00198" "00290823" "00198" "00290824" "00198" "00301360" "00352" "00301371" "00351" "00301617" "00352" "00304389" "00198" "00446744" "04173" "00446780" "04173" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00351, 00352, 04173 ## Count = 5 "{{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}}" "0000100610" "00198" "00128394" "02244" "Unknown" "0d" "" "" "" "" "" "" "" "" "" "" "stillbirth (HP:0003826)" "" "0000228555" "00351" "00301371" "03529" "Familial" "" "CMH" "" "" "" "" "" "" "" "" "" "" "" "0000228723" "00352" "00301617" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "CMD1T" "dilated cardiomyopathy" "" "0000335948" "04173" "00446744" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "left ventricular non-compaction" "" "0000335984" "04173" "00446780" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "left ventricular non-compaction" "" ## 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}}" "0000129232" "00128394" "1" "02244" "02244" "2017-09-15 15:30:53" "" "" "SEQ-NG" "DNA" "" "HaloPlex gene panel (70 heart genes)" "0000291991" "00290823" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291992" "00290824" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000302491" "00301360" "1" "03529" "03529" "2020-05-15 09:58:48" "" "" "SEQ-NG" "DNA" "" "gene panel 80 Cardiomyopathy genes" "0000302492" "00301371" "1" "03529" "03529" "2020-05-15 10:10:55" "" "" "SEQ-NG" "DNA" "" "panel of 80 cardiomyopath" "0000302742" "00301617" "1" "00006" "00006" "2020-05-19 14:58:42" "" "" "SEQ" "DNA" "" "" "0000305518" "00304389" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000448319" "00446744" "1" "00006" "00006" "2024-01-23 17:14:25" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000448355" "00446780" "1" "00006" "00006" "2024-01-23 17:14:25" "" "" "SEQ;SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{geneid}}" "0000302491" "TMPO" "0000302492" "TMPO" "0000302742" "TMPO" ## 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}}" "0000218372" "0" "50" "12" "98909868" "98909868" "subst" "0" "02244" "TMPO_000001" "g.98909868C>G" "" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "" "" "" "Germline" "?" "" "" "" "" "g.98516090C>G" "" "VUS" "" "0000250694" "0" "10" "12" "98927281" "98927281" "subst" "0.00490467" "02326" "TMPO_000017" "g.98927281A>G" "" "" "" "TMPO(NM_003276.2):c.1246A>G (p.K416E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.98533503A>G" "" "benign" "" "0000251527" "0" "10" "12" "98941637" "98941637" "subst" "0.00353595" "02326" "TMPO_000039" "g.98941637A>G" "" "" "" "TMPO(NM_001032283.2):c.*1A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.98547859A>G" "" "benign" "" "0000251851" "0" "30" "12" "98926934" "98926934" "subst" "1.62504E-5" "02326" "TMPO_000012" "g.98926934A>G" "" "" "" "TMPO(NM_003276.2):c.899A>G (p.H300R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.98533156A>G" "" "likely benign" "" "0000251870" "0" "30" "12" "98938798" "98938798" "subst" "4.46991E-5" "02326" "TMPO_000036" "g.98938798A>T" "" "" "" "TMPO(NM_001032283.2):c.949A>T (p.I317L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.98545020A>T" "" "likely benign" "" "0000252709" "0" "50" "12" "98927036" "98927036" "subst" "4.06954E-6" "02326" "TMPO_000014" "g.98927036A>G" "" "" "" "TMPO(NM_003276.2):c.1001A>G (p.K334R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.98533258A>G" "" "VUS" "" "0000253046" "0" "10" "12" "98927281" "98927281" "subst" "0.00490467" "01943" "TMPO_000017" "g.98927281A>G" "" "" "" "TMPO(NM_003276.2):c.1246A>G (p.K416E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.98533503A>G" "" "benign" "" "0000253861" "0" "10" "12" "98921811" "98921811" "subst" "0" "01943" "TMPO_000005" "g.98921811A>C" "" "" "" "TMPO(NM_003276.2):c.406+21A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.98528033A>C" "" "benign" "" "0000254242" "0" "30" "12" "98927085" "98927085" "subst" "0.000126044" "01943" "TMPO_000015" "g.98927085A>G" "" "" "" "TMPO(NM_003276.2):c.1050A>G (p.Q350=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.98533307A>G" "" "likely benign" "" "0000255378" "0" "70" "12" "98926599" "98926599" "subst" "0" "01943" "TMPO_000007" "g.98926599A>T" "" "" "" "TMPO(NM_003276.2):c.566-2A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.98532821A>T" "" "likely pathogenic" "" "0000256174" "0" "50" "12" "98941472" "98941472" "subst" "3.24892E-5" "01943" "TMPO_000038" "g.98941472A>C" "" "" "" "TMPO(NM_001032283.2):c.1201A>C (p.K401Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.98547694A>C" "" "VUS" "" "0000311901" "0" "10" "12" "98927830" "98927830" "subst" "0.0861959" "02325" "TMPO_000022" "g.98927830C>G" "" "" "" "TMPO(NM_003276.2):c.1795C>G (p.Q599E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.98534052C>G" "" "benign" "" "0000311902" "0" "50" "12" "98909877" "98909877" "subst" "0" "02325" "TMPO_000003" "g.98909877G>C" "" "" "" "TMPO(NM_003276.2):c.232G>C (p.G78R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.98516099G>C" "" "VUS" "" "0000314595" "0" "30" "12" "98927312" "98927312" "subst" "0.00126771" "02326" "TMPO_000018" "g.98927312C>T" "" "" "" "TMPO(NM_003276.2):c.1277C>T (p.P426L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.98533534C>T" "" "likely benign" "" "0000314596" "0" "30" "12" "98927398" "98927398" "subst" "0.000154344" "02326" "TMPO_000019" "g.98927398G>A" "" "" "" "TMPO(NM_003276.2):c.1363G>A (p.E455K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.98533620G>A" "" "likely benign" "" "0000314597" "0" "10" "12" "98927469" "98927469" "subst" "0.00451472" "02326" "TMPO_000020" "g.98927469G>C" "" "" "" "TMPO(NM_003276.2):c.1434G>C (p.K478N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.98533691G>C" "" "benign" "" "0000314598" "0" "50" "12" "98927674" "98927674" "subst" "0" "02326" "TMPO_000021" "g.98927674G>C" "" "" "" "TMPO(NM_003276.2):c.1639G>C (p.A547P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.98533896G>C" "" "VUS" "" "0000314599" "0" "30" "12" "98927992" "98927992" "subst" "0.000516705" "02326" "TMPO_000024" "g.98927992C>T" "" "" "" "TMPO(NM_003276.2):c.1957C>T (p.L653F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.98534214C>T" "" "likely benign" "" "0000314600" "0" "30" "12" "98921656" "98921656" "subst" "1.62563E-5" "02326" "TMPO_000004" "g.98921656G>A" "" "" "" "TMPO(NM_001032283.2):c.280-8G>A, TMPO(NM_003276.2):c.280-8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.98527878G>A" "" "likely benign" "" "0000314601" "0" "30" "12" "98925585" "98925585" "subst" "0.000134201" "02326" "TMPO_000006" "g.98925585T>C" "" "" "" "TMPO(NM_001032283.2):c.534T>C (p.N178=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.98531807T>C" "" "likely benign" "" "0000314602" "0" "30" "12" "98926691" "98926691" "subst" "0" "02326" "TMPO_000008" "g.98926691T>C" "" "" "" "TMPO(NM_003276.2):c.656T>C (p.F219S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.98532913T>C" "" "likely benign" "" "0000314603" "0" "10" "12" "98926748" "98926748" "subst" "0.00451351" "02326" "TMPO_000009" "g.98926748T>G" "" "" "" "TMPO(NM_003276.2):c.713T>G (p.L238R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.98532970T>G" "" "benign" "" "0000314604" "0" "30" "12" "98938242" "98938242" "subst" "5.69022E-5" "02326" "TMPO_000034" "g.98938242G>A" "" "" "" "TMPO(NM_001032283.2):c.806G>A (p.R269H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.98544464G>A" "" "likely benign" "" "0000314605" "0" "10" "12" "98926856" "98926856" "subst" "0.00279623" "02326" "TMPO_000010" "g.98926856G>A" "" "" "" "TMPO(NM_003276.2):c.821G>A (p.R274K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.98533078G>A" "" "benign" "" "0000314606" "0" "10" "12" "98938295" "98938295" "subst" "0.0106366" "02326" "TMPO_000035" "g.98938295G>C" "" "" "" "TMPO(NM_001032283.2):c.859G>C (p.A287P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.98544517G>C" "" "benign" "" "0000314607" "0" "10" "12" "98926912" "98926912" "subst" "0.00451739" "02326" "TMPO_000011" "g.98926912T>G" "" "" "" "TMPO(NM_003276.2):c.877T>G (p.S293A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.98533134T>G" "" "benign" "" "0000314608" "0" "10" "12" "98926985" "98926985" "subst" "0.00866836" "02326" "TMPO_000013" "g.98926985C>G" "" "" "" "TMPO(NM_003276.2):c.950C>G (p.T317S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.98533207C>G" "" "benign" "" "0000314609" "0" "10" "12" "98940133" "98940133" "subst" "0.0045211" "02326" "TMPO_000037" "g.98940133T>C" "" "" "" "TMPO(NM_001032283.2):c.991-4T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.98546355T>C" "" "benign" "" "0000316764" "0" "50" "12" "98927275" "98927275" "subst" "0" "01943" "TMPO_000016" "g.98927275C>G" "" "" "" "TMPO(NM_003276.2):c.1240C>G (p.Q414E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.98533497C>G" "" "VUS" "" "0000316765" "0" "30" "12" "98927312" "98927312" "subst" "0.00126771" "01943" "TMPO_000018" "g.98927312C>T" "" "" "" "TMPO(NM_003276.2):c.1277C>T (p.P426L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.98533534C>T" "" "likely benign" "" "0000316766" "0" "30" "12" "98927984" "98927984" "subst" "0.000138337" "01943" "TMPO_000023" "g.98927984G>A" "" "" "" "TMPO(NM_003276.2):c.1949G>A (p.R650H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.98534206G>A" "" "likely benign" "" "0000316767" "0" "50" "12" "98928104" "98928104" "subst" "2.87439E-5" "01943" "TMPO_000025" "g.98928104G>A" "" "" "" "TMPO(NM_003276.2):c.2069G>A (p.R690H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.98534326G>A" "" "VUS" "" "0000316768" "0" "10" "12" "98909870" "98909870" "subst" "0.00132045" "01943" "TMPO_000002" "g.98909870G>A" "" "" "" "TMPO(NM_003276.2):c.225G>A (p.P75=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.98516092G>A" "" "benign" "" "0000316769" "0" "10" "12" "98921656" "98921656" "subst" "1.62563E-5" "01943" "TMPO_000004" "g.98921656G>A" "" "" "" "TMPO(NM_001032283.2):c.280-8G>A, TMPO(NM_003276.2):c.280-8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.98527878G>A" "" "benign" "" "0000549571" "0" "30" "12" "98909658" "98909658" "subst" "4.50753E-5" "02326" "TMPO_000026" "g.98909658C>T" "" "" "" "TMPO(NM_001032283.2):c.13C>T (p.L5=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98515880C>T" "" "likely benign" "" "0000549573" "0" "30" "12" "98925474" "98925474" "subst" "1.62538E-5" "02326" "TMPO_000027" "g.98925474A>G" "" "" "" "TMPO(NM_001032283.2):c.423A>G (p.L141=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98531696A>G" "" "likely benign" "" "0000549574" "0" "50" "12" "98926721" "98926721" "subst" "0.00309091" "01943" "TMPO_000028" "g.98926721C>T" "" "" "" "TMPO(NM_003276.2):c.686C>T (p.T229I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98532943C>T" "" "VUS" "" "0000549575" "0" "30" "12" "98926721" "98926721" "subst" "0.00309091" "02326" "TMPO_000028" "g.98926721C>T" "" "" "" "TMPO(NM_003276.2):c.686C>T (p.T229I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98532943C>T" "" "likely benign" "" "0000549576" "0" "30" "12" "98926928" "98926928" "subst" "0" "02326" "TMPO_000029" "g.98926928C>T" "" "" "" "TMPO(NM_003276.2):c.893C>T (p.P298L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98533150C>T" "" "likely benign" "" "0000549577" "0" "30" "12" "98927088" "98927088" "subst" "2.84673E-5" "02326" "TMPO_000030" "g.98927088G>A" "" "" "" "TMPO(NM_003276.2):c.1053G>A (p.S351=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98533310G>A" "" "likely benign" "" "0000549578" "0" "30" "12" "98927287" "98927287" "subst" "0" "02326" "TMPO_000031" "g.98927287C>G" "" "" "" "TMPO(NM_003276.2):c.1252C>G (p.Q418E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98533509C>G" "" "likely benign" "" "0000549579" "0" "30" "12" "98927718" "98927718" "subst" "8.94738E-5" "02326" "TMPO_000032" "g.98927718C>G" "" "" "" "TMPO(NM_003276.2):c.1683C>G (p.C561W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98533940C>G" "" "likely benign" "" "0000549580" "0" "50" "12" "98931316" "98931316" "subst" "4.07628E-6" "02326" "TMPO_000033" "g.98931316T>A" "" "" "" "TMPO(NM_001032283.2):c.629T>A (p.V210E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98537538T>A" "" "VUS" "" "0000614439" "0" "30" "12" "98909696" "98909696" "subst" "4.49332E-5" "02327" "TMPO_000040" "g.98909696G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98515918G>A" "" "likely benign" "" "0000614440" "0" "30" "12" "98921656" "98921656" "subst" "1.62563E-5" "02327" "TMPO_000004" "g.98921656G>A" "" "" "" "TMPO(NM_001032283.2):c.280-8G>A, TMPO(NM_003276.2):c.280-8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98527878G>A" "" "likely benign" "" "0000614442" "0" "50" "12" "98926721" "98926721" "subst" "0.00309091" "02327" "TMPO_000028" "g.98926721C>T" "" "" "" "TMPO(NM_003276.2):c.686C>T (p.T229I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98532943C>T" "" "VUS" "" "0000614443" "0" "10" "12" "98926985" "98926985" "subst" "0.00866836" "02327" "TMPO_000013" "g.98926985C>G" "" "" "" "TMPO(NM_003276.2):c.950C>G (p.T317S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98533207C>G" "" "benign" "" "0000614444" "0" "50" "12" "98927065" "98927065" "subst" "2.03404E-5" "02326" "TMPO_000042" "g.98927065A>G" "" "" "" "TMPO(NM_003276.2):c.1030A>G (p.R344G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98533287A>G" "" "VUS" "" "0000614445" "0" "50" "12" "98927147" "98927147" "subst" "6.09449E-5" "02327" "TMPO_000043" "g.98927147C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98533369C>T" "" "VUS" "" "0000614446" "0" "30" "12" "98927307" "98927307" "subst" "0" "02327" "TMPO_000044" "g.98927307T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98533529T>C" "" "likely benign" "" "0000614447" "0" "30" "12" "98927464" "98927464" "subst" "0.000170682" "02327" "TMPO_000045" "g.98927464G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98533686G>A" "" "likely benign" "" "0000614448" "0" "50" "12" "98927506" "98927506" "subst" "0.00301976" "02327" "TMPO_000046" "g.98927506T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98533728T>G" "" "VUS" "" "0000614449" "0" "50" "12" "98928345" "98928345" "subst" "0" "02327" "TMPO_000047" "g.98928345A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98534567A>G" "" "VUS" "" "0000614450" "0" "50" "12" "98938167" "98938167" "subst" "0.000183064" "02327" "TMPO_000049" "g.98938167G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98544389G>A" "" "VUS" "" "0000614451" "0" "30" "12" "98938798" "98938798" "subst" "4.46991E-5" "02327" "TMPO_000036" "g.98938798A>T" "" "" "" "TMPO(NM_001032283.2):c.949A>T (p.I317L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98545020A>T" "" "likely benign" "" "0000614452" "0" "50" "12" "98940230" "98940230" "dup" "0" "02327" "TMPO_000050" "g.98940230dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98546452dup" "" "VUS" "" "0000623006" "0" "30" "12" "98931341" "98931341" "subst" "0.000164204" "02326" "TMPO_000048" "g.98931341G>A" "" "" "" "TMPO(NM_001032283.2):c.654G>A (p.E218=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98537563G>A" "" "likely benign" "" "0000648680" "1" "50" "12" "98928103" "98928103" "subst" "0.0186455" "03575" "TMPO_000051" "g.98928103C>T" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; {DB:CLININrs17028450}" "Germline" "" "rs17028450" "0" "" "" "g.98534325C>T" "" "VUS" "" "0000648681" "1" "30" "12" "98929114" "98929114" "subst" "0" "03575" "TMPO_000052" "g.98929114A>G" "44/2792 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "44 heterozygous; {DB:CLININrs17028456}" "Germline" "" "rs17028456" "0" "" "" "g.98535336A>G" "" "likely benign" "" "0000657217" "0" "30" "12" "98909893" "98909893" "subst" "2.58113E-5" "02326" "TMPO_000053" "g.98909893C>T" "" "" "" "TMPO(NM_001032283.2):c.248C>T (p.A83V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98516115C>T" "" "likely benign" "" "0000657218" "0" "30" "12" "98926822" "98926822" "subst" "0" "02326" "TMPO_000054" "g.98926822G>C" "" "" "" "TMPO(NM_003276.2):c.787G>C (p.G263R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98533044G>C" "" "likely benign" "" "0000665779" "0" "90" "12" "98921754" "98921754" "subst" "3.24936E-5" "03529" "TMPO_000055" "g.98921754C>T" "2/2100" "" "" "" "" "Germline" "" "" "0" "" "" "g.98527976C>T" "" "likely pathogenic" "ACMG" "0000665780" "0" "90" "12" "98927219" "98927219" "del" "0" "03529" "TMPO_000056" "g.98927219del" "2/2100" "" "" "cellular models" "" "Germline" "" "" "0" "" "" "g.98533441del" "" "likely pathogenic" "ACMG" "0000666092" "1" "93" "12" "98928103" "98928103" "subst" "0.0186455" "00006" "TMPO_000051" "g.98928103C>T" "1/88 families CMD" "{PMID:Taylor 2005:16247757}" "" "" "not in 300 control chromosomes/222 CMD chromosomes" "Germline" "yes" "" "0" "" "" "g.98534325C>T" "" "pathogenic (dominant)" "" "0000666093" "3" "30" "12" "98928103" "98928103" "subst" "0.0186455" "00006" "TMPO_000051" "g.98928103C>T" "" "" "" "" "allele frequency 0.015 ExAC database (February, 2017), identified in 141 homozygotes" "CLASSIFICATION record" "" "" "0" "" "" "g.98534325C>T" "" "likely benign" "" "0000669206" "3" "30" "12" "98929114" "98929114" "subst" "0" "03575" "TMPO_000052" "g.98929114A>G" "1/2792 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs17028456}" "Germline" "" "rs17028456" "0" "" "" "g.98535336A>G" "" "likely benign" "" "0000691451" "0" "50" "12" "98928025" "98928025" "subst" "1.22117E-5" "02326" "TMPO_000057" "g.98928025T>G" "" "" "" "TMPO(NM_003276.2):c.1990T>G (p.S664A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000805988" "0" "30" "12" "98927913" "98927913" "subst" "0" "02326" "TMPO_000058" "g.98927913A>T" "" "" "" "TMPO(NM_003276.2):c.1878A>T (p.S626=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853558" "0" "30" "12" "98938851" "98938851" "subst" "0.000339177" "02326" "TMPO_000059" "g.98938851C>T" "" "" "" "TMPO(NM_001032283.2):c.990+12C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000957895" "0" "70" "12" "98931409" "98931409" "subst" "3.74877E-5" "00006" "TMPO_000060" "g.98931409T>G" "" "{PMID:Miszalski-Jamka 2017:28798025}" "" "TMPO I241S" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000957932" "0" "30" "12" "98926856" "98926856" "subst" "0.00279623" "00006" "TMPO_000010" "g.98926856G>A" "" "{PMID:Miszalski-Jamka 2017:28798025}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.98533078G>A" "" "likely benign" "" "0000980520" "0" "50" "12" "98941590" "98941590" "dup" "0" "01804" "TMPO_000061" "g.98941590dup" "" "" "" "TMPO(NM_001032283.3):c.1319dup (p.(Asn440LysfsTer5))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015023" "0" "50" "12" "98927036" "98927036" "subst" "4.06954E-6" "02325" "TMPO_000014" "g.98927036A>G" "" "" "" "TMPO(NM_003276.2):c.1001A>G (p.K334R)" "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 TMPO ## 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}}" "0000218372" "00021500" "50" "223" "0" "223" "0" "c.223C>G" "r.(?)" "p.(Pro75Ala)" "" "0000250694" "00021500" "10" "1246" "0" "1246" "0" "c.1246A>G" "r.(?)" "p.(Lys416Glu)" "" "0000251527" "00021500" "10" "15602" "0" "15602" "0" "c.*13517A>G" "r.(=)" "p.(=)" "" "0000251851" "00021500" "30" "899" "0" "899" "0" "c.899A>G" "r.(?)" "p.(His300Arg)" "" "0000251870" "00021500" "30" "12763" "0" "12763" "0" "c.*10678A>T" "r.(=)" "p.(=)" "" "0000252709" "00021500" "50" "1001" "0" "1001" "0" "c.1001A>G" "r.(?)" "p.(Lys334Arg)" "" "0000253046" "00021500" "10" "1246" "0" "1246" "0" "c.1246A>G" "r.(?)" "p.(Lys416Glu)" "" "0000253861" "00021500" "10" "406" "21" "406" "21" "c.406+21A>C" "r.(=)" "p.(=)" "" "0000254242" "00021500" "30" "1050" "0" "1050" "0" "c.1050A>G" "r.(?)" "p.(Gln350=)" "" "0000255378" "00021500" "70" "566" "-2" "566" "-2" "c.566-2A>T" "r.spl?" "p.?" "" "0000256174" "00021500" "50" "15437" "0" "15437" "0" "c.*13352A>C" "r.(=)" "p.(=)" "" "0000311901" "00021500" "10" "1795" "0" "1795" "0" "c.1795C>G" "r.(?)" "p.(Gln599Glu)" "" "0000311902" "00021500" "50" "232" "0" "232" "0" "c.232G>C" "r.(?)" "p.(Gly78Arg)" "" "0000314595" "00021500" "30" "1277" "0" "1277" "0" "c.1277C>T" "r.(?)" "p.(Pro426Leu)" "" "0000314596" "00021500" "30" "1363" "0" "1363" "0" "c.1363G>A" "r.(?)" "p.(Glu455Lys)" "" "0000314597" "00021500" "10" "1434" "0" "1434" "0" "c.1434G>C" "r.(?)" "p.(Lys478Asn)" "" "0000314598" "00021500" "50" "1639" "0" "1639" "0" "c.1639G>C" "r.(?)" "p.(Ala547Pro)" "" "0000314599" "00021500" "30" "1957" "0" "1957" "0" "c.1957C>T" "r.(?)" "p.(Leu653Phe)" "" "0000314600" "00021500" "30" "280" "-8" "280" "-8" "c.280-8G>A" "r.(=)" "p.(=)" "" "0000314601" "00021500" "30" "534" "0" "534" "0" "c.534T>C" "r.(?)" "p.(Asn178=)" "" "0000314602" "00021500" "30" "656" "0" "656" "0" "c.656T>C" "r.(?)" "p.(Phe219Ser)" "" "0000314603" "00021500" "10" "713" "0" "713" "0" "c.713T>G" "r.(?)" "p.(Leu238Arg)" "" "0000314604" "00021500" "30" "12207" "0" "12207" "0" "c.*10122G>A" "r.(=)" "p.(=)" "" "0000314605" "00021500" "10" "821" "0" "821" "0" "c.821G>A" "r.(?)" "p.(Arg274Lys)" "" "0000314606" "00021500" "10" "12260" "0" "12260" "0" "c.*10175G>C" "r.(=)" "p.(=)" "" "0000314607" "00021500" "10" "877" "0" "877" "0" "c.877T>G" "r.(?)" "p.(Ser293Ala)" "" "0000314608" "00021500" "10" "950" "0" "950" "0" "c.950C>G" "r.(?)" "p.(Thr317Ser)" "" "0000314609" "00021500" "10" "14098" "0" "14098" "0" "c.*12013T>C" "r.(=)" "p.(=)" "" "0000316764" "00021500" "50" "1240" "0" "1240" "0" "c.1240C>G" "r.(?)" "p.(Gln414Glu)" "" "0000316765" "00021500" "30" "1277" "0" "1277" "0" "c.1277C>T" "r.(?)" "p.(Pro426Leu)" "" "0000316766" "00021500" "30" "1949" "0" "1949" "0" "c.1949G>A" "r.(?)" "p.(Arg650His)" "" "0000316767" "00021500" "50" "2069" "0" "2069" "0" "c.2069G>A" "r.(?)" "p.(Arg690His)" "" "0000316768" "00021500" "10" "225" "0" "225" "0" "c.225G>A" "r.(?)" "p.(Pro75=)" "" "0000316769" "00021500" "10" "280" "-8" "280" "-8" "c.280-8G>A" "r.(=)" "p.(=)" "" "0000549571" "00021500" "30" "13" "0" "13" "0" "c.13C>T" "r.(?)" "p.(Leu5=)" "" "0000549573" "00021500" "30" "423" "0" "423" "0" "c.423A>G" "r.(?)" "p.(Leu141=)" "" "0000549574" "00021500" "50" "686" "0" "686" "0" "c.686C>T" "r.(?)" "p.(Thr229Ile)" "" "0000549575" "00021500" "30" "686" "0" "686" "0" "c.686C>T" "r.(?)" "p.(Thr229Ile)" "" "0000549576" "00021500" "30" "893" "0" "893" "0" "c.893C>T" "r.(?)" "p.(Pro298Leu)" "" "0000549577" "00021500" "30" "1053" "0" "1053" "0" "c.1053G>A" "r.(?)" "p.(Ser351=)" "" "0000549578" "00021500" "30" "1252" "0" "1252" "0" "c.1252C>G" "r.(?)" "p.(Gln418Glu)" "" "0000549579" "00021500" "30" "1683" "0" "1683" "0" "c.1683C>G" "r.(?)" "p.(Cys561Trp)" "" "0000549580" "00021500" "50" "5281" "0" "5281" "0" "c.*3196T>A" "r.(=)" "p.(=)" "" "0000614439" "00021500" "30" "51" "0" "51" "0" "c.51G>A" "r.(?)" "p.(Lys17=)" "" "0000614440" "00021500" "30" "280" "-8" "280" "-8" "c.280-8G>A" "r.(=)" "p.(=)" "" "0000614442" "00021500" "50" "686" "0" "686" "0" "c.686C>T" "r.(?)" "p.(Thr229Ile)" "" "0000614443" "00021500" "10" "950" "0" "950" "0" "c.950C>G" "r.(?)" "p.(Thr317Ser)" "" "0000614444" "00021500" "50" "1030" "0" "1030" "0" "c.1030A>G" "r.(?)" "p.(Arg344Gly)" "" "0000614445" "00021500" "50" "1112" "0" "1112" "0" "c.1112C>T" "r.(?)" "p.(Pro371Leu)" "" "0000614446" "00021500" "30" "1272" "0" "1272" "0" "c.1272T>C" "r.(?)" "p.(Ser424=)" "" "0000614447" "00021500" "30" "1429" "0" "1429" "0" "c.1429G>A" "r.(?)" "p.(Ala477Thr)" "" "0000614448" "00021500" "50" "1471" "0" "1471" "0" "c.1471T>G" "r.(?)" "p.(Ser491Ala)" "" "0000614449" "00021500" "50" "2310" "0" "2310" "0" "c.*225A>G" "r.(=)" "p.(=)" "" "0000614450" "00021500" "50" "12132" "0" "12132" "0" "c.*10047G>A" "r.(=)" "p.(=)" "" "0000614451" "00021500" "30" "12763" "0" "12763" "0" "c.*10678A>T" "r.(=)" "p.(=)" "" "0000614452" "00021500" "50" "14195" "0" "14195" "0" "c.*12110dup" "r.(?)" "p.(=)" "" "0000623006" "00021500" "30" "5306" "0" "5306" "0" "c.*3221G>A" "r.(=)" "p.(=)" "" "0000648680" "00021500" "50" "2068" "0" "2068" "0" "c.2068C>T" "r.(?)" "p.(Arg690Cys)" "" "0000648681" "00021500" "30" "3079" "0" "3079" "0" "c.*994A>G" "r.(=)" "p.(=)" "" "0000657217" "00021500" "30" "248" "0" "248" "0" "c.248C>T" "r.(?)" "p.(Ala83Val)" "" "0000657218" "00021500" "30" "787" "0" "787" "0" "c.787G>C" "r.(?)" "p.(Gly263Arg)" "" "0000665779" "00021500" "90" "370" "0" "370" "0" "c.370C>T" "r.(?)" "p.(Leu124Phe)" "2" "0000665780" "00021500" "90" "1184" "0" "1184" "0" "c.1184del" "r.(?)" "p.(Gly395Glufs*11)" "4" "0000666092" "00021500" "93" "2068" "0" "2068" "0" "c.2068C>T" "r.(?)" "p.(Arg690Cys)" "" "0000666093" "00021500" "30" "2068" "0" "2068" "0" "c.2068C>T" "r.(?)" "p.(Arg690Cys)" "" "0000669206" "00021500" "30" "3079" "0" "3079" "0" "c.*994A>G" "r.(=)" "p.(=)" "" "0000691451" "00021500" "50" "1990" "0" "1990" "0" "c.1990T>G" "r.(?)" "p.(Ser664Ala)" "" "0000805988" "00021500" "30" "1878" "0" "1878" "0" "c.1878A>T" "r.(?)" "p.(Ser626=)" "" "0000853558" "00021500" "30" "12816" "0" "12816" "0" "c.*10731C>T" "r.(=)" "p.(=)" "" "0000957895" "00021500" "70" "5374" "0" "5374" "0" "c.*3289T>G" "r.(=)" "p.(=)" "" "0000957932" "00021500" "30" "821" "0" "821" "0" "c.821G>A" "r.(?)" "p.(Arg274Lys)" "" "0000980520" "00021500" "50" "15555" "0" "15555" "0" "c.*13470dup" "r.(?)" "p.(=)" "" "0001015023" "00021500" "50" "1001" "0" "1001" "0" "c.1001A>G" "r.(?)" "p.(Lys334Arg)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 9 "{{screeningid}}" "{{variantid}}" "0000129232" "0000218372" "0000291991" "0000648680" "0000291992" "0000648681" "0000302491" "0000665779" "0000302492" "0000665780" "0000302742" "0000666092" "0000305518" "0000669206" "0000448319" "0000957895" "0000448355" "0000957932"