### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TOP3A) # 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}}" "TOP3A" "topoisomerase (DNA) III alpha" "17" "p12-p11.2" "unknown" "NC_000017.10" "UD_132378585329" "" "https://www.LOVD.nl/TOP3A" "" "1" "11992" "7156" "601243" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2024-05-02 19:44:45" "00006" "2026-02-06 11:55:49" ## 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}}" "00021641" "TOP3A" "topoisomerase (DNA) III alpha" "001" "NM_004618.3" "" "NP_004609.1" "" "" "" "-229" "3887" "3006" "18218321" "18177235" "" "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" "01683" "BLM" "Bloom syndrome (BLM)" "AR" "210900" "" "growth restriction, microcephaly, malar rash, cancer predisposition, cardiomyopathy, elevated sister chromatid exchanges" "" "00006" "2014-09-25 23:29:40" "00006" "2024-05-02 19:53:20" "06358" "MGRISCE2" "microcephaly, growth restriction, and increased sister chromatid exchange, type 2" "AR" "618097" "" "growth restriction, microcephaly, no malar rash, cardiomyopathy, elevated sister chromatid exchanges" "" "00006" "2021-12-10 23:20:41" "00006" "2024-05-02 19:56:08" "06359" "PEOB5" "?Progressive external ophthalmoplegia with Mi DNA deletions, autosomal recessive 5" "AR" "618098" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "TOP3A" "06358" "TOP3A" "06359" ## Individuals ## Do not remove or alter this header ## ## Count = 12 "{{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}}" "00449701" "" "" "" "1" "" "00006" "{PMID:Martin 2018:30057030}, {DOI:Martin 2018:10.1016/j.ajhg.2018.07.001}" "2-generation family, 1 affected, unaffected heterozygous parents" "F" "" "United States" "" "0" "" "" "Czech;Ireland" "Fam1Pat1" "00449702" "" "" "" "3" "" "00006" "{PMID:Martin 2018:30057030}, {DOI:Martin 2018:10.1016/j.ajhg.2018.07.001}" "2-generation family, 3 affected, unaffected heterozygous parents" "F" "" "United Arab Emirates" "" "0" "" "" "" "Fam2Pat2" "00449703" "" "" "00449702" "1" "" "00006" "{PMID:Martin 2018:30057030}, {DOI:Martin 2018:10.1016/j.ajhg.2018.07.001}" "sib" "F" "" "United Arab Emirates" "" "0" "" "" "" "Fam2Pat3" "00449704" "" "" "00449702" "1" "" "00006" "{PMID:Martin 2018:30057030}, {DOI:Martin 2018:10.1016/j.ajhg.2018.07.001}" "sib" "M" "" "United Arab Emirates" "" "0" "" "" "" "Fam2Pat4" "00449705" "" "" "" "1" "" "00006" "{PMID:Martin 2018:30057030}, {DOI:Martin 2018:10.1016/j.ajhg.2018.07.001}" "2-generation family, 1 affected, unaffected heterozygous parents" "F" "" "Japan" "" "0" "" "" "" "Fam3Pat5" "00449706" "" "" "" "1" "" "00006" "{PMID:Martin 2018:30057030}, {DOI:Martin 2018:10.1016/j.ajhg.2018.07.001}" "2-generation family, 1 affected, unaffected heterozygous parents" "F" "" "Syria" "" "0" "" "" "" "Fam4Pat6" "00449707" "" "" "" "2" "" "00006" "{PMID:Martin 2018:30057030}, {DOI:Martin 2018:10.1016/j.ajhg.2018.07.001}" "2-generation family, 2 affected, unaffected heterozygous parents" "F" "" "Spain" "" "0" "" "" "" "Fam5Pat7" "00449708" "" "" "00449707" "1" "" "00006" "{PMID:Martin 2018:30057030}, {DOI:Martin 2018:10.1016/j.ajhg.2018.07.001}" "sib" "M" "" "Spain" "" "0" "" "" "" "Fam5Pat8" "00449709" "" "" "" "1" "" "00006" "{PMID:Martin 2018:30057030}, {DOI:Martin 2018:10.1016/j.ajhg.2018.07.001}" "2-generation family, 1 affected, unaffected heterozygous parents" "M" "" "Syria" "" "0" "" "" "" "Fam6Pat9" "00449710" "" "" "" "1" "" "00006" "{PMID:Martin 2018:30057030}, {DOI:Martin 2018:10.1016/j.ajhg.2018.07.001}" "2-generation family, 1 affected, unaffected heterozygous parents" "F" "" "Saudi Arabia" "" "0" "" "" "" "Fam7Pat10" "00449713" "" "" "" "1" "" "00006" "{PMID:Nicholls 2018:29290614}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "PatMC1" "00472231" "" "" "" "1" "" "04653" "Verebi et al. (submitted)" "" "F" "" "France" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 12 "{{individualid}}" "{{diseaseid}}" "00449701" "01683" "00449702" "01683" "00449703" "01683" "00449704" "01683" "00449705" "01683" "00449706" "01683" "00449707" "01683" "00449708" "01683" "00449709" "01683" "00449710" "01683" "00449713" "00198" "00472231" "06359" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01683, 06358, 06359 ## Count = 12 "{{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}}" "0000338872" "01683" "00449701" "00006" "Familial, autosomal recessive" "5m" "see paper; ..., prenatal-onset growth restriction; elevated sister chromatid exchange; café-au-lait macules; mild developmental delay; no cancer; no decreased subcutaneous fat; gastroesophageal reflux; no diabetes mellitus; recurrent infections (recurrent otitis media and tonsillitis, leading to tonsillectomy); no malar rash; no dilated cardiomyopathy; congenital dislocation hip, gastrostomy; postnatally, weight, height and OFC significantly reduced" "" "" "" "" "" "" "" "" "MGRISCE2" "Bloom Syndrome-like" "" "0000338873" "01683" "00449702" "00006" "Familial, autosomal recessive" "3y" "see paper; ..., prenatal-onset growth restriction; elevated sister chromatid exchange; café-au-lait macules; no developmental delay; no cancer; no decreased subcutaneous fat; no diabetes mellitus; no malar rash; no dilated cardiomyopathy; postnatally, weight, height and OFC significantly reduced" "" "" "" "" "" "" "" "" "MGRISCE2" "Bloom Syndrome-like" "" "0000338874" "01683" "00449703" "00006" "Familial, autosomal recessive" "8y" "see paper; ..., prenatal-onset growth restriction; elevated sister chromatid exchange; café-au-lait macules; no developmental delay; no cancer; no decreased subcutaneous fat; no diabetes mellitus; no malar rash; dilated cardiomyopathy; abnormal movements and tics; postnatally, weight, height and OFC significantly reduced" "" "" "" "" "" "" "" "" "MGRISCE2" "Bloom Syndrome-like" "" "0000338875" "01683" "00449704" "00006" "Familial, autosomal recessive" "10y" "see paper; ..., deceased, ; prenatal-onset growth restriction; café-au-lait macules; no developmental delay; no cancer; no decreased subcutaneous fat; no diabetes mellitus; no malar rash; severe dilated cardiomyopathy (deceased); postnatally, weight, height and OFC significantly reduced" "" "" "" "" "" "" "" "" "MGRISCE2" "Bloom Syndrome-like" "" "0000338876" "01683" "00449705" "00006" "Familial, autosomal recessive" "15y" "see paper; ..., prenatal-onset growth restriction; elevated sister chromatid exchange; no café-au-lait macules; no developmental delay; no cancer; no decreased subcutaneous fat; no gastroesophageal reflux; no diabetes mellitus; no recurrent infections; no malar rash; dilated cardiomyopathy (after heart transplant); mitochondrial DNA depletion muscle (0.87); hearing loss, combined malonic and methylmalonic aciduria; postnatally, weight, height and OFC significantly reduced" "" "" "" "" "" "" "" "" "MGRISCE2" "Bloom Syndrome-like" "" "0000338877" "01683" "00449706" "00006" "Familial, autosomal recessive" "19m" "see paper; ..., prenatal-onset growth restriction; café-au-lait macules; mild developmental delay (expressive speech delay); no cancer; no decreased subcutaneous fat; gastroesophageal reflux; no diabetes mellitus; no recurrent infections; no malar rash; ECG normal; postnatally, weight, height and OFC significantly reduced" "" "" "" "" "" "" "" "" "MGRISCE2" "Bloom Syndrome-like" "" "0000338878" "01683" "00449707" "00006" "Familial, autosomal recessive" "3y" "see paper; ..., prenatal-onset growth restriction; elevated sister chromatid exchange; no café-au-lait macules; no developmental delay; no cancer; decreased subcutaneous fat; no gastroesophageal reflux; no diabetes mellitus; no recurrent infections; no malar rash; postnatally, weight, height and OFC significantly reduced" "" "" "" "" "" "" "" "" "MGRISCE2" "Bloom Syndrome-like" "" "0000338879" "01683" "00449708" "00006" "Familial, autosomal recessive" "7y" "see paper; ..., prenatal-onset growth restriction; elevated sister chromatid exchange; café-au-lait macules; mild developmental delay; no cancer; decreased subcutaneous fat; no diabetes mellitus; no malar rash; dilated cardiomyopathy (asymptomatic), mild left-ventricle dilatation; postnatally, weight, height and OFC significantly reduced" "" "" "" "" "" "" "" "" "MGRISCE2" "Bloom Syndrome-like" "" "0000338880" "01683" "00449709" "00006" "Familial, autosomal recessive" "11y" "see paper; ..., prenatal-onset growth restriction; elevated sister chromatid exchange; café-au-lait macules; no developmental delay; no cancer; no decreased subcutaneous fat; no gastroesophageal reflux; no diabetes mellitus; recurrent infections; no malar rash; hypertrophic cardiomyopathy; microcytic anemia (due to beta-thalassemia trait); postnatally, weight, height and OFC significantly reduced" "" "" "" "" "" "" "" "" "MGRISCE2" "Bloom Syndrome-like" "" "0000338881" "01683" "00449710" "00006" "Familial, autosomal recessive" "4y7m" "see paper; ..., prenatal-onset growth restriction; café-au-lait macules; mild developmental delay; no cancer; decreased subcutaneous fat; no diabetes mellitus; recurrent infections (reccurent upper-respiratory-tract infections, oral thrush); no malar rash; no dilated cardiomyopathy; postnatally, weight, height and OFC significantly reduced" "" "" "" "" "" "" "" "" "MGRISCE2" "Bloom Syndrome-like" "" "0000338884" "00198" "00449713" "00006" "Familial, autosomal recessive" "13y" "see paper; ..., prenatal-onset growth restriction; no café-au-lait macules; no developmental delay; no cancer; no decreased subcutaneous fat; no gastroesophageal reflux; no diabetes mellitus; no recurrent infections; no malar rash; postnatally, weight, height and OFC significantly reduced" "" "" "" "" "" "" "" "" "MGRISCE2" "adult-onset mitochondrial disease" "" "0000357040" "06359" "00472231" "04653" "Unknown" "" "Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy, Ptosis, Bilateral sensorineural hearing impairment, easy fatigability, progressive external ophtalmoplegia, exercice intolerance, hearing impairment, bilteral ptosis, weakness of facial musculature" "" "" "" "" "" "" "" "" "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5" "Metabolic myopathy" "" ## Screenings ## Do not remove or alter this header ## ## Count = 12 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000451292" "00449701" "1" "00006" "00006" "2024-05-03 10:10:03" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000451293" "00449702" "1" "00006" "00006" "2024-05-03 10:10:03" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000451294" "00449703" "1" "00006" "00006" "2024-05-03 10:10:03" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000451295" "00449704" "1" "00006" "00006" "2024-05-03 10:10:03" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000451296" "00449705" "1" "00006" "00006" "2024-05-03 10:10:03" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000451297" "00449706" "1" "00006" "00006" "2024-05-03 10:10:03" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000451298" "00449707" "1" "00006" "00006" "2024-05-03 10:10:03" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000451299" "00449708" "1" "00006" "00006" "2024-05-03 10:10:03" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000451300" "00449709" "1" "00006" "00006" "2024-05-03 10:10:03" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000451301" "00449710" "1" "00006" "00006" "2024-05-03 10:10:03" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000451304" "00449713" "1" "00006" "00006" "2024-05-03 10:10:03" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000473901" "00472231" "1" "04653" "04653" "2026-01-19 15:35:40" "" "" "SEQ-NG-I" "DNA" "" "WGS" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 0 ## 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 = 25 "{{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}}" "0000560626" "0" "70" "17" "18205670" "18205670" "dup" "0" "02329" "TOP3A_000001" "g.18205670dup" "" "" "" "TOP3A(NM_004618.5):c.722dupA (p.Y241*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18302356dup" "" "likely pathogenic" "" "0000680807" "0" "90" "17" "18196150" "18196150" "subst" "0" "01943" "TOP3A_000002" "g.18196150G>A" "" "" "" "TOP3A(NM_001320759.1):c.805C>T (p.R269*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000807850" "0" "70" "17" "18188455" "18188455" "subst" "0" "02329" "TOP3A_000003" "g.18188455C>G" "" "" "" "TOP3A(NM_004618.5):c.1877+1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000807851" "0" "90" "17" "18218058" "18218058" "subst" "0" "02327" "SHMT1_000004" "g.18218058C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000982356" "0" "30" "17" "18183980" "18183980" "subst" "8.9741E-5" "01804" "TOP3A_000004" "g.18183980C>T" "" "" "" "TOP3A(NM_004618.5):c.2022-8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000982357" "0" "50" "17" "18202944" "18202944" "subst" "0" "01804" "TOP3A_000005" "g.18202944G>A" "" "" "" "TOP3A(NM_004618.5):c.919C>T (p.(Pro307Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000985125" "3" "90" "17" "18181099" "18181099" "del" "0" "00006" "TOP3A_000008" "g.18181099del" "" "{PMID:Martin 2018:30057030}, {DOI:Martin 2018:10.1016/j.ajhg.2018.07.001}" "" "" "" "Germline" "" "" "0" "" "" "g.18277785del" "" "pathogenic (recessive)" "" "0000985126" "3" "90" "17" "18181551" "18181551" "dup" "0" "00006" "TOP3A_000007" "g.18181551dup" "" "{PMID:Martin 2018:30057030}, {DOI:Martin 2018:10.1016/j.ajhg.2018.07.001}" "" "" "" "Germline" "" "" "0" "" "" "g.18278237dup" "" "pathogenic (recessive)" "" "0000985127" "3" "90" "17" "18181551" "18181551" "dup" "0" "00006" "TOP3A_000007" "g.18181551dup" "" "{PMID:Martin 2018:30057030}, {DOI:Martin 2018:10.1016/j.ajhg.2018.07.001}" "" "" "" "Germline" "" "" "0" "" "" "g.18278237dup" "" "pathogenic (recessive)" "" "0000985128" "3" "90" "17" "18181551" "18181551" "dup" "0" "00006" "TOP3A_000007" "g.18181551dup" "" "{PMID:Martin 2018:30057030}, {DOI:Martin 2018:10.1016/j.ajhg.2018.07.001}" "" "" "" "Germline" "" "" "0" "" "" "g.18278237dup" "" "pathogenic (recessive)" "" "0000985129" "1" "90" "17" "18206010" "18206010" "subst" "0" "00006" "TOP3A_000010" "g.18206010G>A" "" "{PMID:Martin 2018:30057030}, {DOI:Martin 2018:10.1016/j.ajhg.2018.07.001}" "" "" "" "Germline" "" "" "0" "" "" "g.18302696G>A" "" "pathogenic (recessive)" "" "0000985130" "3" "90" "17" "18181551" "18181551" "dup" "0" "00006" "TOP3A_000007" "g.18181551dup" "" "{PMID:Martin 2018:30057030}, {DOI:Martin 2018:10.1016/j.ajhg.2018.07.001}" "" "" "" "Germline" "" "" "0" "" "" "g.18278237dup" "" "pathogenic (recessive)" "" "0000985131" "3" "90" "17" "18181389" "18181389" "del" "0" "00006" "TOP3A_000009" "g.18181389del" "" "{PMID:Martin 2018:30057030}, {DOI:Martin 2018:10.1016/j.ajhg.2018.07.001}" "" "" "" "Germline" "" "" "0" "" "" "g.18278075del" "" "pathogenic (recessive)" "" "0000985132" "3" "90" "17" "18181389" "18181389" "del" "0" "00006" "TOP3A_000009" "g.18181389del" "" "{PMID:Martin 2018:30057030}, {DOI:Martin 2018:10.1016/j.ajhg.2018.07.001}" "" "" "" "Germline" "" "" "0" "" "" "g.18278075del" "" "pathogenic (recessive)" "" "0000985133" "3" "90" "17" "18181551" "18181551" "dup" "0" "00006" "TOP3A_000007" "g.18181551dup" "" "{PMID:Martin 2018:30057030}, {DOI:Martin 2018:10.1016/j.ajhg.2018.07.001}, {DOI:Martin 2024:10.1016/j.ajhg.2024.04.008}" "" "2771dup" "" "Germline" "" "" "0" "" "" "g.18278237dup" "" "pathogenic (recessive)" "" "0000985134" "3" "90" "17" "18181551" "18181551" "dup" "0" "00006" "TOP3A_000007" "g.18181551dup" "" "{PMID:Martin 2018:30057030}, {DOI:Martin 2018:10.1016/j.ajhg.2018.07.001}, {DOI:Martin 2024:10.1016/j.ajhg.2024.04.008}" "" "2771dup" "" "Germline" "" "" "0" "" "" "g.18278237dup" "" "pathogenic (recessive)" "" "0000985137" "1" "90" "17" "18211681" "18211681" "subst" "6.97321E-5" "00006" "TOP3A_000012" "g.18211681T>C" "" "{PMID:Nicholls 2018:29290614}" "" "" "" "Germline" "" "" "0" "" "" "g.18308367T>C" "" "pathogenic (recessive)" "" "0000985138" "2" "90" "17" "18198017" "18198018" "dup" "0" "00006" "TOP3A_000006" "g.18198017_18198018dup" "" "{PMID:Martin 2018:30057030}, {DOI:Martin 2018:10.1016/j.ajhg.2018.07.001}" "" "1072_1073dup" "" "Germline" "yes" "" "0" "" "" "g.18294703_18294704dup" "" "pathogenic (recessive)" "" "0000985139" "2" "90" "17" "18208522" "18208522" "subst" "0.000101546" "00006" "TOP3A_000011" "g.18208522G>A" "" "{PMID:Martin 2018:30057030}, {DOI:Martin 2018:10.1016/j.ajhg.2018.07.001}" "" "" "" "Germline" "" "" "0" "" "" "g.18305208G>A" "" "pathogenic (recessive)" "" "0001020278" "0" "30" "17" "18208423" "18208423" "subst" "0" "03779" "TOP3A_000013" "g.18208423T>C" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely benign" "" "0001041674" "0" "50" "17" "18181059" "18181059" "subst" "0" "01804" "TOP3A_000014" "g.18181059G>C" "" "" "" "TOP3A(NM_004618.5):c.2757C>G (p.(Phe919Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001055889" "0" "50" "17" "18181667" "18181667" "subst" "0.000129103" "01804" "TOP3A_000015" "g.18181667T>G" "" "" "" "TOP3A(NM_004618.5):c.2149A>C (p.(Lys717Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001055890" "0" "50" "17" "18217944" "18217944" "subst" "0" "01804" "SHMT1_000010" "g.18217944G>A" "" "" "" "TOP3A(NM_004618.5):c.149C>T (p.(Ala50Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001062861" "0" "70" "17" "18186051" "18186051" "subst" "4.06108E-6" "04653" "TOP3A_000016" "g.18186051C>T" "" "Verebi et al. (submitted)" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.18282737C>T" "" "likely pathogenic" "ACMG" "0001062862" "0" "50" "17" "18205200" "18205200" "subst" "8.12836E-6" "04653" "TOP3A_000017" "g.18205200T>A" "" "Verebi et al. (submitted)" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.18301886T>A" "" "VUS" "ACMG" ## 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 TOP3A ## Count = 25 "{{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}}" "0000560626" "00021641" "70" "722" "0" "722" "0" "c.722dup" "r.(?)" "p.(Tyr241Ter)" "" "0000680807" "00021641" "90" "1090" "0" "1090" "0" "c.1090C>T" "r.(?)" "p.(Arg364Ter)" "" "0000807850" "00021641" "70" "1877" "1" "1877" "1" "c.1877+1G>C" "r.spl?" "p.?" "" "0000807851" "00021641" "90" "35" "0" "35" "0" "c.35G>A" "r.(?)" "p.(Trp12*)" "" "0000982356" "00021641" "30" "2022" "-8" "2022" "-8" "c.2022-8G>A" "r.(=)" "p.(=)" "" "0000982357" "00021641" "50" "919" "0" "919" "0" "c.919C>T" "r.(?)" "p.(Pro307Ser)" "" "0000985125" "00021641" "90" "2718" "0" "2718" "0" "c.2718del" "r.(?)" "p.(Thr907LeufsTer101)" "" "0000985126" "00021641" "90" "2271" "0" "2271" "0" "c.2271dup" "r.(?)" "p.(Arg758GlnfsTer3)" "" "0000985127" "00021641" "90" "2271" "0" "2271" "0" "c.2271dup" "r.(?)" "p.(Arg758GlnfsTer3)" "" "0000985128" "00021641" "90" "2271" "0" "2271" "0" "c.2271dup" "r.(?)" "p.(Arg758GlnfsTer3)" "" "0000985129" "00021641" "90" "527" "0" "527" "0" "c.527C>T" "r.(?)" "p.(Ala176Val)" "" "0000985130" "00021641" "90" "2271" "0" "2271" "0" "c.2271dup" "r.(?)" "p.(Arg758GlnfsTer3)" "" "0000985131" "00021641" "90" "2428" "0" "2428" "0" "c.2428del" "r.(?)" "p.(Ser810LeufsTer2)" "" "0000985132" "00021641" "90" "2428" "0" "2428" "0" "c.2428del" "r.(?)" "p.(Ser810LeufsTer2)" "" "0000985133" "00021641" "90" "2271" "0" "2271" "0" "c.2271dup" "r.(?)" "p.(Arg758GlnfsTer3)" "" "0000985134" "00021641" "90" "2271" "0" "2271" "0" "c.2271dup" "r.(?)" "p.(Arg758GlnfsTer3)" "" "0000985137" "00021641" "90" "298" "0" "298" "0" "c.298A>G" "r.(?)" "p.(Met100Val)" "" "0000985138" "00021641" "90" "1073" "0" "1073" "1" "c.1073_1073+1dup" "r.spl" "p.?" "" "0000985139" "00021641" "90" "403" "0" "403" "0" "c.403C>T" "r.(?)" "p.(Arg135Ter)" "" "0001020278" "00021641" "30" "499" "3" "499" "3" "c.499+3A>G" "r.(?)" "p.(?)" "" "0001041674" "00021641" "50" "2757" "0" "2757" "0" "c.2757C>G" "r.(?)" "p.(Phe919Leu)" "" "0001055889" "00021641" "50" "2149" "0" "2149" "0" "c.2149A>C" "r.(?)" "p.(Lys717Gln)" "" "0001055890" "00021641" "50" "149" "0" "149" "0" "c.149C>T" "r.(?)" "p.(Ala50Val)" "" "0001062861" "00021641" "70" "1982" "0" "1982" "0" "c.1982G>A" "r.(?)" "p.(Cys661Tyr)" "16" "0001062862" "00021641" "50" "914" "0" "914" "0" "c.914A>T" "r.(?)" "p.(Glu305Val)" "8" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 15 "{{screeningid}}" "{{variantid}}" "0000451292" "0000985125" "0000451293" "0000985126" "0000451294" "0000985127" "0000451295" "0000985128" "0000451296" "0000985129" "0000451296" "0000985138" "0000451297" "0000985130" "0000451298" "0000985131" "0000451299" "0000985132" "0000451300" "0000985133" "0000451301" "0000985134" "0000451304" "0000985137" "0000451304" "0000985139" "0000473901" "0001062861" "0000473901" "0001062862"