### 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" "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}}" "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 = 11 "{{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" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 11 "{{individualid}}" "{{diseaseid}}" "00449701" "01683" "00449702" "01683" "00449703" "01683" "00449704" "01683" "00449705" "01683" "00449706" "01683" "00449707" "01683" "00449708" "01683" "00449709" "01683" "00449710" "01683" "00449713" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01683, 06358, 06359 ## Count = 11 "{{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" "" ## Screenings ## Do not remove or alter this header ## ## Count = 11 "{{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" "" "" ## 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 = 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}}" "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" "" ## 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 = 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}}" "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)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 13 "{{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"