### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TDP2) # 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}}" "TDP2" "tyrosyl-DNA phosphodiesterase 2" "6" "p22.3-p22.1" "unknown" "NG_052787.1" "UD_133034014898" "" "https://www.LOVD.nl/TDP2" "" "1" "17768" "51567" "605764" "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/TDP2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2020-01-23 15:02:50" "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}}" "00020938" "TDP2" "tyrosyl-DNA phosphodiesterase 2" "001" "NM_016614.2" "" "NP_057698.2" "" "" "" "-25" "1900" "1089" "24667115" "24650205" "" "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}}" "04201" "SCAR" "ataxia, spinocerebellar, autosomal recessive" "AR" "" "" "" "" "00006" "2015-02-20 09:53:55" "00006" "2021-12-10 21:51:32" "05356" "ataxia" "ataxia" "" "" "" "" "" "00006" "2017-12-21 19:14:03" "" "" "05517" "skeletal dysplasia" "dysplasia, skeletal" "" "" "" "" "" "00006" "2018-11-16 16:43:21" "" "" "05685" "SCAR23" "ataxia, spinocerebellar, autosomal recessive, type 23 (SCAR23)" "AR" "616949" "" "onset infancy-childhood, cerebellar ataxia (HP:0001251), cerebellar atrophy (HP:0001272), no peripheral neuropathy (-HP:0009830), no muscle weakness (-HP:0001324), developmental delay (HP:0001263), seizures (HP:0001250), no hyporeflexia (-HP:0001265), cognitive impairment (HP:0100543), no oculomotor apraxia (-HP:0000657), no dystonia (-HP:0001332)" "" "00006" "2020-01-23 14:49:07" "00006" "2024-09-10 21:07:12" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "TDP2" "04201" "TDP2" "05685" ## Individuals ## Do not remove or alter this header ## ## Count = 7 "{{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}}" "00275997" "" "" "" "2" "" "03559" "{PMID:Errichiello 2020:32651480}" "3-generation family, two affected siblings (F, M); unaffected heterozygous carrier parents/relatives" "F;M" "yes" "Italy" ">39y" "0" "yes" "" "white" "EE" "00331574" "" "" "" "1" "" "00000" "{PMID:Maddirevula 2018:29620724}" "isolated case" "M" "yes" "" "" "0" "" "" "" "13DG2203" "00410747" "" "" "" "1" "" "00006" "{PMID:Zagnoli-Vieira 2018:30109272}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "United States" "" "0" "" "" "" "patient" "00410748" "" "" "" "3" "" "00006" "{PMID:Gomez-Herreros 2014:24658003}" "5-generation family, 5 affected (F, 4M), unaffected heterozygous carrier parents/relatives" "M" "yes" "Ireland" "" "0" "" "" "" "FamPatIV9" "00410749" "" "" "00410748" "1" "" "00006" "{PMID:Gomez-Herreros 2014:24658003}" "brother" "M" "yes" "Ireland" "" "0" "" "" "" "FamPatIV14" "00410750" "" "" "00410748" "1" "" "00006" "{PMID:Gomez-Herreros 2014:24658003}" "brother" "M" "yes" "Ireland" "" "0" "" "" "" "FamPatIV16" "00410751" "" "" "" "1" "" "00006" "{PMID:Gomez-Herreros 2014:24658003}" "" "" "" "Egypt" "" "0" "" "" "" "family" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 7 "{{individualid}}" "{{diseaseid}}" "00275997" "05356" "00331574" "05517" "00410747" "04201" "00410748" "04201" "00410749" "04201" "00410750" "04201" "00410751" "04201" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 04201, 05356, 05517, 05685 ## Count = 7 "{{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}}" "0000210551" "05356" "00275997" "03559" "Familial, autosomal recessive" "" "global developmental delay, ataxia, intellectual disability, speech delay, focal drug-resistant epileptic seizures, progressive gait deterioration" "" "" "" "Lack of protein expression" "" "" "" "Spinocerebellar ataxia" "" "0000249766" "05517" "00331574" "00000" "Familial, autosomal recessive" "" "Arab (Egyp Tetraphocomelia, Preauricular skin tag, Low-set ears, Single transverse palmar crease, Hig No" "" "" "" "" "" "" "" "" "skeletal dysplasia" "0000302838" "04201" "00410747" "00006" "Familial, autosomal recessive" "06y" "see paper; ..., developmental delay, microcephaly, failure to thrive, difficulty keeping balance, ataxic gait, seizures/epilepsy, hypotonia, neutropenia, cardiac arrhythmia, fatigability" "<00y05m" "" "" "" "" "" "" "SCAR23" "spinocerebellar ataxia" "0000302839" "04201" "00410748" "00006" "Familial, autosomal recessive" "32y" "see paper; ..., symptomatic generalized epilepsy, moderate-severe intellectual disability, tonic seizures (1-2/day), ataxia, wheelchair-bound, hypotonia, dysmorphic, brachycephaly" "<2m" "" "" "" "" "" "" "SCAR23" "spinocerebellar ataxia" "0000302840" "04201" "00410749" "00006" "Familial, autosomal recessive" "26y" "see paper; ..., symptomatic generalized epilepsy, moderate-severe intellectual disability, tonic seizures (3-4/day), ataxia, wheelchair-bound, dysmorphic" "<12y" "" "" "" "" "" "" "SCAR23" "spinocerebellar ataxia" "0000302841" "04201" "00410750" "00006" "Familial, autosomal recessive" "23y" "see paper; ..., symptomatic generalized epilepsy, moderate-severe intellectual disability, tonic seizures (2/day), ataxia, not wheelchair-bound, dysmorphic" "<6m" "" "" "" "" "" "" "SCAR23" "spinocerebellar ataxia" "0000302842" "04201" "00410751" "00006" "Familial, autosomal recessive" "" "see paper; ..., intellectual disability, ataxia" "" "" "" "" "" "" "" "SCAR23" "spinocerebellar ataxia" ## Screenings ## Do not remove or alter this header ## ## Count = 7 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000277144" "00275997" "1" "03559" "03559" "2020-01-22 21:54:26" "00006" "2022-05-30 11:09:32" "RT-PCR;SEQ;SEQ-NG-I" "DNA;RNA" "Blood" "WES (whole-exome sequencing)" "0000332793" "00331574" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000412012" "00410747" "1" "00006" "00006" "2022-05-30 11:16:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000412013" "00410748" "1" "00006" "00006" "2022-05-30 11:57:20" "" "" "arraySNP;SEQ;SEQ-NG" "DNA" "" "WES" "0000412014" "00410749" "1" "00006" "00006" "2022-05-30 11:57:20" "" "" "arraySNP;SEQ;SEQ-NG" "DNA" "" "WES" "0000412015" "00410750" "1" "00006" "00006" "2022-05-30 11:57:20" "" "" "arraySNP;SEQ;SEQ-NG" "DNA" "" "WES" "0000412016" "00410751" "1" "00006" "00006" "2022-05-30 11:57:20" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000332793" "TDP2" ## 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}}" "0000254868" "0" "30" "6" "24651061" "24651061" "subst" "0.000986962" "01943" "TDP2_000001" "g.24651061A>C" "" "" "" "TDP2(NM_016614.2):c.1044T>G (p.P348=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24650833A>C" "" "likely benign" "" "0000256254" "0" "50" "6" "24667084" "24667084" "subst" "0" "01943" "TDP2_000003" "g.24667084A>T" "" "" "" "TDP2(NM_016614.2):c.7T>A (p.L3M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24666856A>T" "" "VUS" "" "0000313258" "0" "70" "6" "24653300" "24653300" "subst" "0" "02329" "TDP2_000002" "g.24653300G>A" "" "" "" "TDP2(NM_016614.3):c.718C>T (p.Q240*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24653072G>A" "" "likely pathogenic" "" "0000528111" "0" "50" "6" "24658948" "24658948" "subst" "0.00193443" "01943" "TDP2_000004" "g.24658948T>C" "" "" "" "TDP2(NM_016614.2):c.266A>G (p.N89S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24658720T>C" "" "VUS" "" "0000631883" "3" "90" "6" "24654636" "24654639" "del" "0" "03559" "TDP2_000005" "g.24654636_24654639del" "0" "{PMID:Errichiello 2020:32651480}" "" "636+3_636+6delGAGT" "ACMG PS3, PM2, PP3" "Germline" "yes" "" "0" "" "" "g.24654408_24654411del" "" "likely pathogenic (recessive)" "ACMG" "0000730075" "3" "90" "6" "24653210" "24653210" "subst" "0" "00000" "TDP2_000006" "g.24653210C>A" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_016614.2:c.807+1G>T:p.(213_269del)" "" "Germline" "" "" "0" "" "" "g.24652982C>A" "" "likely pathogenic (recessive)" "" "0000802457" "0" "50" "6" "24651072" "24651072" "subst" "4.06131E-5" "01943" "KIAA0319_000003" "g.24651072C>T" "" "" "" "TDP2(NM_016614.2):c.1033G>A (p.G345S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000851147" "0" "30" "6" "24651043" "24651043" "subst" "0" "01943" "KIAA0319_000004" "g.24651043A>C" "" "" "" "TDP2(NM_016614.2):c.1062T>G (p.L354=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851148" "0" "30" "6" "24651232" "24651232" "subst" "1.62575E-5" "01943" "KIAA0319_000005" "g.24651232T>C" "" "" "" "TDP2(NM_016614.2):c.873A>G (p.K291=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851149" "0" "30" "6" "24667016" "24667016" "subst" "0.000662171" "01943" "ACOT13_000003" "g.24667016C>T" "" "" "" "TDP2(NM_016614.2):c.75G>A (p.R25=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860260" "0" "50" "6" "24658112" "24658112" "subst" "8.6838E-6" "01943" "TDP2_000007" "g.24658112A>G" "" "" "" "TDP2(NM_016614.2):c.445T>C (p.F149L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000869262" "3" "90" "6" "24658788" "24658788" "subst" "6.25579E-5" "00006" "TDP2_000008" "g.24658788C>T" "" "{PMID:Zagnoli-Vieira 2018:30109272}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000869263" "3" "70" "6" "24658788" "24658788" "subst" "6.25579E-5" "00006" "TDP2_000008" "g.24658788C>T" "" "{PMID:Gomez-Herreros 2014:24658003}" "" "" "" "Germline" "" "" "0" "" "" "g.24658560C>T" "" "likely pathogenic (recessive)" "" "0000869264" "3" "70" "6" "24658788" "24658788" "subst" "6.25579E-5" "00006" "TDP2_000008" "g.24658788C>T" "" "{PMID:Gomez-Herreros 2014:24658003}" "" "" "" "Germline" "" "" "0" "" "" "g.24658560C>T" "" "likely pathogenic (recessive)" "" "0000869265" "3" "70" "6" "24658788" "24658788" "subst" "6.25579E-5" "00006" "TDP2_000008" "g.24658788C>T" "" "{PMID:Gomez-Herreros 2014:24658003}" "" "" "" "Germline" "" "" "0" "" "" "g.24658560C>T" "" "likely pathogenic (recessive)" "" "0000869266" "3" "30" "6" "24651186" "24651186" "subst" "0.00114935" "00006" "TDP2_000009" "g.24651186T>C" "" "{PMID:Gomez-Herreros 2014:24658003}" "" "c.919T>C" "" "Germline" "" "" "0" "" "" "g.24650958T>C" "" "likely benign" "" "0000869267" "3" "30" "6" "24651186" "24651186" "subst" "0.00114935" "00006" "TDP2_000009" "g.24651186T>C" "" "{PMID:Gomez-Herreros 2014:24658003}" "" "c.919T>C" "" "Germline" "" "" "0" "" "" "g.24650958T>C" "" "likely benign" "" "0000869268" "3" "30" "6" "24651186" "24651186" "subst" "0.00114935" "00006" "TDP2_000009" "g.24651186T>C" "" "{PMID:Gomez-Herreros 2014:24658003}" "" "c.919T>C" "" "Germline" "" "" "0" "" "" "g.24650958T>C" "" "likely benign" "" "0000869272" "3" "90" "6" "24658800" "24658801" "delins" "0" "00006" "TDP2_000010" "g.24658800_24658801delinsTT" "" "{PMID:Gomez-Herreros 2014:24658003}" "" "" "" "Germline" "" "" "0" "" "" "g.24658572_24658573delinsTT" "" "likely pathogenic (recessive)" "" "0000887131" "0" "30" "6" "24667009" "24667009" "subst" "0.00225871" "02326" "ACOT13_000004" "g.24667009G>C" "" "" "" "TDP2(NM_016614.3):c.82C>G (p.L28V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000963959" "0" "50" "6" "24658797" "24658797" "subst" "0" "02329" "TDP2_000011" "g.24658797G>C" "" "" "" "TDP2(NM_016614.3):c.417C>G (p.Y139*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035642" "0" "50" "6" "24667079" "24667079" "subst" "2.0387E-5" "01804" "ACOT13_000005" "g.24667079C>A" "" "" "" "TDP2(NM_016614.3):c.12G>T (p.(Gly4=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001052283" "0" "50" "6" "24653297" "24653297" "subst" "0" "01804" "TDP2_000012" "g.24653297A>C" "" "" "" "TDP2(NM_016614.3):c.721T>G (p.(Leu241Val))" "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 TDP2 ## 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}}" "0000254868" "00020938" "30" "1044" "0" "1044" "0" "c.1044T>G" "r.(?)" "p.(Pro348=)" "" "0000256254" "00020938" "50" "7" "0" "7" "0" "c.7T>A" "r.(?)" "p.(Leu3Met)" "" "0000313258" "00020938" "70" "718" "0" "718" "0" "c.718C>T" "r.(?)" "p.(Gln240Ter)" "" "0000528111" "00020938" "50" "266" "0" "266" "0" "c.266A>G" "r.(?)" "p.(Asn89Ser)" "" "0000631883" "00020938" "90" "636" "3" "636" "6" "c.636+3_636+6del" "r.518_636del" "p.His174GlufsTer6" "5i" "0000730075" "00020938" "90" "807" "1" "807" "1" "c.807+1G>T" "r.spl?" "p.?" "" "0000802457" "00020938" "50" "1033" "0" "1033" "0" "c.1033G>A" "r.(?)" "p.(Gly345Ser)" "" "0000851147" "00020938" "30" "1062" "0" "1062" "0" "c.1062T>G" "r.(?)" "p.(Leu354=)" "" "0000851148" "00020938" "30" "873" "0" "873" "0" "c.873A>G" "r.(?)" "p.(Lys291=)" "" "0000851149" "00020938" "30" "75" "0" "75" "0" "c.75G>A" "r.(?)" "p.(Arg25=)" "" "0000860260" "00020938" "50" "445" "0" "445" "0" "c.445T>C" "r.(?)" "p.(Phe149Leu)" "" "0000869262" "00020938" "90" "425" "1" "425" "1" "c.425+1G>A" "r.spl" "p.?" "" "0000869263" "00020938" "70" "425" "1" "425" "1" "c.425+1G>A" "r.spl" "p.?" "" "0000869264" "00020938" "70" "425" "1" "425" "1" "c.425+1G>A" "r.spl" "p.?" "" "0000869265" "00020938" "70" "425" "1" "425" "1" "c.425+1G>A" "r.spl" "p.?" "" "0000869266" "00020938" "30" "919" "0" "919" "0" "c.919A>G" "r.(?)" "p.(Ile307Val)" "" "0000869267" "00020938" "30" "919" "0" "919" "0" "c.919A>G" "r.(?)" "p.(Ile307Val)" "" "0000869268" "00020938" "30" "919" "0" "919" "0" "c.919A>G" "r.(?)" "p.(Ile307Val)" "" "0000869272" "00020938" "90" "413" "0" "414" "0" "c.413_414delinsAA" "r.(?)" "p.(Ser138*)" "" "0000887131" "00020938" "30" "82" "0" "82" "0" "c.82C>G" "r.(?)" "p.(Leu28Val)" "" "0000963959" "00020938" "50" "417" "0" "417" "0" "c.417C>G" "r.(?)" "p.(Tyr139*)" "" "0001035642" "00020938" "50" "12" "0" "12" "0" "c.12G>T" "r.(?)" "p.(=)" "" "0001052283" "00020938" "50" "721" "0" "721" "0" "c.721T>G" "r.(?)" "p.(Leu241Val)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 10 "{{screeningid}}" "{{variantid}}" "0000277144" "0000631883" "0000332793" "0000730075" "0000412012" "0000869262" "0000412013" "0000869263" "0000412013" "0000869266" "0000412014" "0000869264" "0000412014" "0000869267" "0000412015" "0000869265" "0000412015" "0000869268" "0000412016" "0000869272"