### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TANGO2) # 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}}" "TANGO2" "transport and golgi organization 2 homolog" "22" "q11.21" "unknown" "NG_046857.1" "UD_145628421511" "" "https://www.LOVD.nl/TANGO2" "" "1" "25439" "128989" "616830" "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/TANGO2_codingDNA.html" "1" "" "" "-1" "" "-1" "00006" "2017-04-22 16:18:40" "" "" "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}}" "00024251" "TANGO2" "transport and golgi organization 2 homolog (Drosophila)" "008" "NM_152906.4" "" "NP_690870.3" "" "" "" "-178" "2093" "831" "20008631" "20053447" "00006" "2017-04-22 16:18:40" "" "" ## 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}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "06537" "MECRCN" "Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration" "AR" "616878" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "TANGO2" "06537" ## Individuals ## Do not remove or alter this header ## ## Count = 10 "{{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}}" "00050438" "" "" "" "2" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, affected father/child" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00050514" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00050542" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00050613" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00103913" "" "" "" "1" "" "00006" "{PMID:Eldomery 2017:28327206}, {DOI:Eldomery 2017:10.1186/s13073-017-0412-6}" "" "" "" "United States" "" "0" "" "" "" "28327206-PatBH5788_1" "00318017" "" "" "" "1" "" "00006" "{PMID:Riazuddin 2017:27457812}" "" "" "yes" "Pakistan" "" "0" "" "" "Pathan" "PKMR45" "00361597" "" "" "" "1" "" "00006" "{PMID:Anazi 2017:27431290}" "familial" "M" "yes" "Saudi Arabia" "" "0" "" "" "" "15DG0032" "00431301" "" "" "" "1" "" "00006" "{PMID:Kremer 2016:26805782}, {PMID:Yepez 2022:35379322}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "" "" "0" "" "" "Europe" "Fam1PatII2" "00431302" "" "" "" "1" "" "00006" "{PMID:Kremer 2016:26805782}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "Germany" "" "0" "" "" "" "Fam3PatII1" "00431303" "" "" "" "1" "" "00006" "{PMID:Kremer 2016:26805782}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "yes" "Turkey" "" "0" "" "" "" "Fam2PatII2" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 10 "{{individualid}}" "{{diseaseid}}" "00050438" "00198" "00050514" "00198" "00050542" "00198" "00050613" "00198" "00103913" "00198" "00318017" "00139" "00361597" "00139" "00431301" "00198" "00431302" "00198" "00431303" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 06537 ## Count = 10 "{{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}}" "0000037050" "00198" "00050438" "00006" "Unknown" "" "sparse scalp hair, fragile nails, abnormality of limb bone morphology, alopecia of scalp, high palate, global developmental delay, global developmental delay, abnormality of the heart" "" "" "" "" "" "" "" "" "" "" "" "0000037126" "00198" "00050514" "00006" "Isolated (sporadic)" "" "agenesis of corpus callosum, periventricular gray matter heterotopia, seizures, frontal bossing, eczema" "" "" "" "" "" "" "" "" "" "" "" "0000037154" "00198" "00050542" "00006" "Isolated (sporadic)" "" "abnormality of the nervous system, dysphagia, abnormality of the palpebral fissures, inverted nipples, redundant skin, global developmental delay" "" "" "" "" "" "" "" "" "" "" "" "0000037225" "00198" "00050613" "00006" "Isolated (sporadic)" "" "specific learning disability, congenital hypothyroidism, abnormality of metabolism/homeostasis, rhabdomyolysis, cardiomyopathy" "" "" "" "" "" "" "" "" "" "" "" "0000081840" "00198" "00103913" "00006" "Familial, autosomal recessive" "" "recurrent muscle weakness with rhabdomyolysis, metabolic crises, cardiac arrhythmia" "" "" "" "" "" "" "" "" "" "" "" "0000241801" "00139" "00318017" "00006" "Familial, autosomal recessive" "" "Severe ID, speech delay, mild hypotonia, ADHD, epilepsy, aggressive, squint in one individual." "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000257002" "00139" "00361597" "00006" "Familial, autosomal recessive" "5y" "syndromic; developmental delay, hearing impairment, recurrent hypoglycemic attacks, subtle dysmorphism" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000321902" "00198" "00431301" "00006" "Familial, autosomal recessive" "03y03m" "rhabdomyolysis); cardiac arhythmia; elevted TSH; no opthalmologic anomalies; cognitive impairment; epilepsy; spasticity; brain atrophy; hypoglycemia; elevated plasma lactate; hyperCKemia; ketonuria; elevated acylcarnitines; elevated dicarboxylic acids" "02y06m" "" "" "" "" "" "" "" "MECRCN" "infancy-onset recurrent metabolic crises, encephalocardiomyopathy" "" "0000321903" "00198" "00431302" "00006" "Familial, autosomal recessive" "25y" "see paper; ..., >5 episodic metabolic/ncephalopathic crises; myopathy (weakness/rhabdomyolysis); cardiac arhythmia; elevted TSH; no opthalmologic anomalies; cognitive impairment (IQ 71); epilepsy; spasticity; brain atrophy; hypoglycemia; mildly elevated plasma lactate; hyperCKemia; ketonuria; mildly elevated acylcarnitines" "03y" "" "" "" "" "" "" "" "MECRCN" "infancy-onset recurrent metabolic crises, encephalocardiomyopathy" "" "0000321904" "00198" "00431303" "00006" "Familial, autosomal recessive" "12t6m" "see paper; ..., developmental delay; 4 episodic metabolic/ncephalopathic crises; myopathy (weakness/rhabdomyolysis); cardiac arhythmia; elevted TSH; optic atrophy; cognitive impairment; epilepsy; spasticity; brain atrophy; hypoglycemia; elevated plasma lactate; hyperCKemia; ketonuria; elevated acylcarnitines; elevated dicarboxylic acids" "00y05m" "" "" "" "" "" "" "" "MECRCN" "infancy-onset recurrent metabolic crises, encephalocardiomyopathy" "" ## Screenings ## Do not remove or alter this header ## ## Count = 10 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000050383" "00050438" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000050459" "00050514" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000050487" "00050542" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000050558" "00050613" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000104371" "00103913" "1" "00006" "00006" "2017-04-22 16:52:53" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000319199" "00318017" "1" "00006" "00006" "2020-11-05 17:52:36" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000362825" "00361597" "1" "00006" "00006" "2021-04-07 19:07:03" "" "" "SEQ-NG" "DNA" "" "WES" "0000432713" "00431301" "1" "00006" "00006" "2023-02-07 21:31:58" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000432714" "00431302" "1" "00006" "00006" "2023-02-07 21:52:54" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000432715" "00431303" "1" "00006" "00006" "2023-02-07 21:57:21" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{geneid}}" "0000104371" "TANGO2" "0000319199" "TANGO2" "0000362825" "TANGO2" ## 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 = 28 "{{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}}" "0000079363" "0" "90" "22" "18889039" "21464119" "del" "0" "00006" "ARVCF_000002" "g.18889039_21464119del" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "decreased gene dosage" "De novo" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000079439" "0" "90" "22" "18839287" "21830562" "dup" "0" "00006" "ARVCF_000005" "g.18839287_21830562dup" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "increased gene dosage" "De novo" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000079467" "0" "90" "22" "19023163" "21464119" "del" "0" "00006" "ARVCF_000004" "g.19023163_21464119del" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "decreased gene dosage" "De novo" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000079538" "0" "90" "22" "18893563" "21464119" "del" "0" "00006" "ARVCF_000003" "g.18893563_21464119del" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "decreased gene dosage" "De novo" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000169051" "3" "90" "22" "20049061" "20049061" "subst" "0.000120773" "00006" "TANGO2_000001" "g.20049061G>A" "" "{PMID:Eldomery 2017:28327206}, {DOI:Eldomery 2017:10.1186/s13073-017-0412-6}" "" "" "" "Germline" "" "" "0" "" "" "g.20061538G>A" "" "pathogenic" "" "0000316203" "0" "50" "22" "20024596" "20024596" "subst" "0.00642045" "01943" "TANGO2_000002" "g.20024596C>G" "" "" "" "TANGO2(NM_001322141.1):c.158C>G (p.S53*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20037073C>G" "" "VUS" "" "0000316204" "0" "50" "22" "20040102" "20040102" "subst" "6.79793E-5" "01943" "TANGO2_000003" "g.20040102G>C" "" "" "" "TANGO2(NM_001322141.1):c.383G>C (p.G128A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20052579G>C" "" "VUS" "" "0000316205" "0" "50" "22" "20052092" "20052092" "subst" "0.000247826" "01943" "TANGO2_000004" "g.20052092G>A" "" "" "" "TANGO2(NM_001322144.1):c.859G>A (p.G287R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20064569G>A" "" "VUS" "" "0000571375" "0" "10" "22" "20024525" "20024525" "subst" "0.00527008" "01943" "TANGO2_000006" "g.20024525C>T" "" "" "" "TANGO2(NM_001322141.1):c.87C>T (p.H29=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20037002C>T" "" "benign" "" "0000571377" "0" "90" "22" "20030915" "20030915" "subst" "2.84551E-5" "02327" "TANGO2_000008" "g.20030915C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20043392C>T" "" "pathogenic" "" "0000571378" "0" "50" "22" "20041014" "20041014" "subst" "4.06098E-6" "01943" "TANGO2_000009" "g.20041014A>G" "" "" "" "TANGO2(NM_001322141.1):c.443A>G (p.K148R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20053491A>G" "" "VUS" "" "0000571379" "0" "30" "22" "20043504" "20043504" "subst" "0.00607131" "01804" "TANGO2_000010" "g.20043504G>A" "" "" "" "TANGO2(NM_152906.7):c.419G>A (p.(Arg140Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20055981G>A" "" "likely benign" "" "0000571380" "0" "50" "22" "20049199" "20049199" "subst" "0" "01943" "TANGO2_000011" "g.20049199G>A" "" "" "" "TANGO2(NM_001322141.1):c.721G>A (p.E241K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20061676G>A" "" "VUS" "" "0000571381" "0" "30" "22" "20050978" "20050978" "subst" "7.99166E-5" "01943" "TANGO2_000012" "g.20050978C>T" "" "" "" "TANGO2(NM_001322141.1):c.846C>T (p.T282=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20063455C>T" "" "likely benign" "" "0000571382" "0" "30" "22" "20051020" "20051020" "subst" "0" "01943" "TANGO2_000013" "g.20051020T>C" "" "" "" "TANGO2(NM_001322141.1):c.888T>C (p.A296=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20063497T>C" "" "likely benign" "" "0000571383" "0" "50" "22" "20051028" "20051028" "subst" "0" "01943" "TANGO2_000014" "g.20051028C>T" "" "" "" "TANGO2(NM_001322141.1):c.896C>T (p.P299L), TANGO2(NM_001322141.2):c.896C>T (p.(Pro299Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20063505C>T" "" "VUS" "" "0000618468" "0" "50" "22" "20024484" "20024484" "subst" "4.10843E-5" "01943" "TANGO2_000015" "g.20024484G>A" "" "" "" "TANGO2(NM_001322141.1):c.46G>A (p.G16R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20036961G>A" "" "VUS" "" "0000681785" "0" "30" "22" "20030953" "20030953" "subst" "5.28812E-5" "01943" "TANGO2_000016" "g.20030953C>T" "" "" "" "TANGO2(NM_001322141.1):c.255C>T (p.N85=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000701863" "3" "50" "22" "20041047" "20041047" "subst" "0" "00006" "TANGO2_000017" "g.20041047G>T" "" "{PMID:Riazuddin 2017:27457812}" "" "" "" "Germline" "" "" "0" "" "" "g.20053524G>T" "" "VUS" "" "0000728043" "0" "30" "22" "20050921" "20050921" "subst" "7.7429E-5" "01943" "TANGO2_000018" "g.20050921C>A" "" "" "" "TANGO2(NM_001322141.1):c.789C>A (p.S263R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000763199" "3" "90" "22" "20030915" "20030915" "subst" "2.84551E-5" "00006" "TANGO2_000008" "g.20030915C>T" "" "{PMID:Anazi 2017:27431290}" "" "" "variant reported in peer-reviewed publication" "Germline" "" "" "0" "" "" "g.20043392C>T" "" "pathogenic" "" "0000918289" "11" "90" "22" "20024325" "20024325" "del" "0" "00006" "TANGO2_000019" "g.20024325del" "" "{PMID:Kremer 2016:26805782}" "" "4delT" "" "Germline" "" "" "0" "" "" "g.20036802del" "" "pathogenic (recessive)" "" "0000918290" "21" "90" "22" "20030877" "20053448" "del" "0" "00006" "TANGO2_000020" "g.(20024378_20030877)_(20053448_20067754)del" "" "{PMID:Kremer 2016:26805782}" "" "del ex3-9, c.(56+1_57-1)_(∗1_?)del" "34.6 kb deletion not involving DGCR8" "Germline" "" "" "0" "" "" "g.(20036855_20043354)_(20065925_20080231)del" "" "pathogenic (recessive)" "" "0000918291" "3" "90" "22" "20030877" "20053448" "del" "0" "00006" "TANGO2_000020" "g.(20024378_20030877)_(20053448_20067754)del" "" "{PMID:Kremer 2016:26805782}" "" "del ex3-9, c.(56+1_57-1)_(∗1_?)del" "34.6 kb deletion not involving DGCR8" "Germline" "" "" "0" "" "" "g.(20036855_20043354)_(20065925_20080231)del" "" "pathogenic (recessive)" "" "0000918292" "3" "90" "22" "20043503" "20043503" "subst" "4.06118E-6" "00006" "TANGO2_000021" "g.20043503C>T" "" "{PMID:Kremer 2016:26805782}" "" "" "" "Germline" "" "" "0" "" "" "g.20055980C>T" "" "pathogenic (recessive)" "" "0000984110" "0" "50" "22" "20049216" "20049216" "subst" "2.07811E-5" "01804" "TANGO2_000022" "g.20049216C>T" "" "" "" "TANGO2(NM_152906.7):c.605+10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005911" "0" "90" "22" "20030957" "20030958" "ins" "0" "01804" "TANGO2_000023" "g.20030957_20030958insC" "" "" "" "TANGO2(NM_152906.4):c.136_137insC (p.(Ile46fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001043722" "0" "30" "22" "20051028" "20051028" "subst" "0" "01804" "TANGO2_000014" "g.20051028C>T" "" "" "" "TANGO2(NM_001322141.1):c.896C>T (p.P299L), TANGO2(NM_001322141.2):c.896C>T (p.(Pro299Leu))" "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 TANGO2 ## Count = 28 "{{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}}" "0000079363" "00024251" "00" "-1119770" "0" "1412765" "0" "c.-1119770_*1411934del" "r.0?" "p.0?" "" "0000079439" "00024251" "00" "-1169522" "0" "1779208" "0" "c.-1169522_*1778377dup" "r.?" "p.?" "" "0000079467" "00024251" "00" "-985646" "0" "1412765" "0" "c.-985646_*1411934del" "r.0?" "p.0?" "" "0000079538" "00024251" "00" "-1115246" "0" "1412765" "0" "c.-1115246_*1411934del" "r.0?" "p.0?" "" "0000169051" "00024251" "90" "460" "0" "460" "0" "c.460G>A" "r.(?)" "p.(Gly154Arg)" "7" "0000316203" "00024251" "50" "56" "219" "56" "219" "c.56+219C>G" "r.(=)" "p.(=)" "" "0000316204" "00024251" "50" "260" "0" "260" "0" "c.260G>C" "r.(?)" "p.(Gly87Ala)" "" "0000316205" "00024251" "50" "738" "0" "738" "0" "c.738G>A" "r.(?)" "p.(Ala246=)" "" "0000571375" "00024251" "10" "56" "148" "56" "148" "c.56+148C>T" "r.(=)" "p.(=)" "" "0000571377" "00024251" "90" "94" "0" "94" "0" "c.94C>T" "r.(?)" "p.(Arg32Ter)" "" "0000571378" "00024251" "50" "320" "0" "320" "0" "c.320A>G" "r.(?)" "p.(Lys107Arg)" "" "0000571379" "00024251" "30" "419" "0" "419" "0" "c.419G>A" "r.(?)" "p.(Arg140Gln)" "" "0000571380" "00024251" "50" "598" "0" "598" "0" "c.598G>A" "r.(?)" "p.(Glu200Lys)" "" "0000571381" "00024251" "30" "710" "13" "710" "13" "c.710+13C>T" "r.(=)" "p.(=)" "" "0000571382" "00024251" "30" "710" "55" "710" "55" "c.710+55T>C" "r.(=)" "p.(=)" "" "0000571383" "00024251" "50" "710" "63" "710" "63" "c.710+63C>T" "r.(=)" "p.(=)" "" "0000618468" "00024251" "50" "56" "107" "56" "107" "c.56+107G>A" "r.(=)" "p.(=)" "" "0000681785" "00024251" "30" "132" "0" "132" "0" "c.132C>T" "r.(?)" "p.(Asn44=)" "" "0000701863" "00024251" "50" "353" "0" "353" "0" "c.353G>T" "r.(?)" "p.(Gly118Val)" "" "0000728043" "00024251" "30" "666" "0" "666" "0" "c.666C>A" "r.(?)" "p.(Ser222Arg)" "" "0000763199" "00024251" "90" "94" "0" "94" "0" "c.94C>T" "r.(?)" "p.(Arg32*)" "" "0000918289" "00024251" "90" "4" "0" "4" "0" "c.4del" "r.(?)" "p.(Cys2Alafs*35)" "" "0000918290" "00024251" "90" "0" "0" "0" "0" "c.(56+1_57-1)_*1262{0}" "r.?" "p.?" "2i_9_" "0000918291" "00024251" "90" "0" "0" "0" "0" "c.(56+1_57-1)_*1262{0}" "r.?" "p.?" "2i_9_" "0000918292" "00024251" "90" "418" "0" "418" "0" "c.418C>T" "r.(?)" "p.(Arg140*)" "" "0000984110" "00024251" "50" "605" "10" "605" "10" "c.605+10C>T" "r.(=)" "p.(=)" "" "0001005911" "00024251" "90" "136" "0" "137" "0" "c.136_137insC" "r.(?)" "p.(Ile46Thrfs*45)" "" "0001043722" "00024251" "30" "710" "63" "710" "63" "c.710+63C>T" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 11 "{{screeningid}}" "{{variantid}}" "0000050383" "0000079363" "0000050459" "0000079439" "0000050487" "0000079467" "0000050558" "0000079538" "0000104371" "0000169051" "0000319199" "0000701863" "0000362825" "0000763199" "0000432713" "0000918289" "0000432713" "0000918290" "0000432714" "0000918291" "0000432715" "0000918292"