### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = EXOSC3) # 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}}" "EXOSC3" "exosome component 3" "9" "p11" "unknown" "NG_032780.1" "UD_136022576198" "" "https://www.LOVD.nl/EXOSC3" "" "1" "17944" "51010" "606489" "1" "1" "1" "1" "Establishment of the database was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "g" "https://databases.lovd.nl/shared/refseq/EXOSC3_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2012-05-31 00:00:00" "00006" "2017-07-04 16:51:53" "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}}" "00007311" "EXOSC3" "transcript variant 1" "002" "NM_016042.3" "" "NP_057126.2" "" "" "" "-48" "1793" "828" "37785089" "37779711" "" "0000-00-00 00:00:00" "" "" ## 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}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "03702" "PCH1B" "hypoplasia, pontocerebellar, type 1b (PCH-1B)" "AR" "614678" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05331" "PCH" "hypoplasia, pontocerebellar (PCH)" "AD;AR" "" "cerebellum" "" "non-degenerative form of pontocerebellar hypoplasia" "00001" "2017-09-25 12:19:57" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "EXOSC3" "03702" ## Individuals ## Do not remove or alter this header ## ## Count = 24 "{{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}}" "00050485" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00050548" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00107835" "" "" "" "1" "" "00006" "{PMID:Wan 2012:22544365}" "" "M" "no" "" "8m" "0" "" "" "Czech" "" "00107836" "" "" "" "1" "" "00006" "{PMID:Wan 2012:22544365}" "" "F" "no" "" "8m" "0" "" "" "Czech" "" "00107837" "" "" "" "1" "" "00006" "{PMID:Wan 2012:22544365}" "" "M" "no" "" "17m" "0" "" "" "Czech" "" "00107838" "" "" "" "1" "" "00006" "{PMID:Wan 2012:22544365}" "" "M" "no" "" ">3m" "0" "" "" "New Caledonian" "" "00107839" "" "" "" "1" "" "00006" "{PMID:Wan 2012:22544365}" "" "M" "no" "" "18y" "0" "" "" "American, European" "" "00107840" "" "" "" "1" "" "00006" "{PMID:Wan 2012:22544365}" "" "M" "no" "" "" "0" "" "" "American, European" "" "00107841" "" "" "" "1" "" "00006" "{PMID:Wan 2012:22544365}" "" "M" "no" "" "16y" "0" "" "" "American, European" "" "00107842" "" "" "" "1" "" "00006" "{PMID:Wan 2012:22544365}" "" "M" "no" "" "" "0" "" "" "American, European" "" "00107843" "" "" "" "1" "" "00006" "{PMID:Wan 2012:22544365}" "" "F" "no" "" "3y4m" "0" "" "" "Canadian, Cuban" "" "00107844" "" "" "" "1" "" "00006" "{PMID:Wan 2012:22544365}" "" "F" "yes" "" "" "0" "" "" "German, Turkish" "" "00107845" "" "" "" "1" "" "00006" "{PMID:Wan 2012:22544365}" "" "M" "yes" "" "" "0" "" "" "German, Turkish" "" "00107846" "" "" "" "1" "" "00006" "{PMID:Wan 2012:22544365}" "" "F" "no" "" "2y2m" "0" "" "" "Australian" "" "00107847" "" "" "" "1" "" "00006" "{PMID:Wan 2012:22544365}" "" "M" "yes" "" "3y" "0" "" "" "Australian, Turkish" "" "00107848" "" "" "" "1" "" "00006" "{PMID:Wan 2012:22544365}" "" "M" "no" "" "11m" "0" "" "" "Australian" "" "00275966" "" "" "" "1" "" "01469" "" "" "M" "" "Italy" "02y" "" "" "" "" "CCM220" "00275967" "" "" "" "1" "" "01469" "" "" "M" "" "Italy" "00y02m" "" "" "" "" "CCM422" "00275968" "" "" "" "1" "" "01469" "" "" "F" "" "" "09y" "" "" "" "" "BR2" "00275969" "" "" "" "1" "" "01469" "" "" "F" "" "Spain" "04y" "" "" "" "" "CCM565" "00275970" "" "" "" "1" "" "01469" "" "" "F" "" "Croatia (Hrvatska)" "00y14m" "" "" "" "" "CCM248" "00294860" "" "" "" "5" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295932" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00374315" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-1614" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 24 "{{individualid}}" "{{diseaseid}}" "00050485" "00198" "00050548" "00198" "00107835" "03702" "00107836" "03702" "00107837" "03702" "00107838" "03702" "00107839" "03702" "00107840" "03702" "00107841" "03702" "00107842" "03702" "00107843" "03702" "00107844" "03702" "00107845" "03702" "00107846" "03702" "00107847" "03702" "00107848" "03702" "00275966" "05331" "00275967" "05331" "00275968" "05331" "00275969" "05331" "00275970" "05331" "00294860" "00198" "00295932" "00198" "00374315" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 03702, 05331 ## Count = 23 "{{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}}" "0000037097" "00198" "00050485" "00006" "Isolated (sporadic)" "" "pontocerebellar hypoplasia, intellectual disability profound, high-grade hypermetropia, strabismus, kyphosis, scoliosis, nephrolithiasis" "" "" "" "" "" "" "" "" "" "" "" "0000037160" "00198" "00050548" "00006" "Isolated (sporadic)" "" "global developmental delay, wide mouth, generalized hypotonia, hypertelorism, postnatal microcephaly" "" "" "" "" "" "" "" "" "" "" "" "0000085596" "03702" "00107835" "00006" "Familial, autosomal recessive" "08m" "Pontocerebellar hypoplasia type 1 (PCH1)" "" "" "" "" "" "" "" "" "" "" "" "0000085597" "03702" "00107836" "00006" "Familial, autosomal recessive" "08m" "Pontocerebellar hypoplasia type 1 (PCH1)" "" "" "" "" "" "" "" "" "" "" "" "0000085598" "03702" "00107837" "00006" "Familial, autosomal recessive" "17m" "Pontocerebellar hypoplasia type 1 (PCH1)" "" "" "" "" "" "" "" "" "" "" "" "0000085599" "03702" "00107838" "00006" "Familial, autosomal recessive" "03m" "Pontocerebellar hypoplasia type 1 (PCH1), seen at 3m" "" "" "" "" "" "" "" "" "" "" "" "0000085600" "03702" "00107839" "00006" "Familial, autosomal recessive" "18y" "floppy at birth; ocular motor apraxia; progressive muscle wasting, distal contractures; progressive microcephaly; growth retardation; global developmental delay; never reached any motor milestone or spoke; Pontocerebellar hypoplasia type 1 (PCH1)" "" "" "" "" "" "" "" "" "" "" "" "0000085601" "03702" "00107840" "00006" "Familial, autosomal recessive" "18y" "floppy at birth; ocular motor apraxia; progressive muscle wasting, distal contractures; progressive microcephaly; growth retardation; global developmental delay; never reached any motor milestone or spoke; Pontocerebellar hypoplasia type 1 (PCH1)" "" "" "" "" "" "" "" "" "" "" "" "0000085602" "03702" "00107841" "00006" "Familial, autosomal recessive" "16y" "floppy at birth; ocular motor apraxia; progressive muscle wasting, distal contractures; progressive microcephaly; growth retardation; global developmental delay; never reached any motor milestone or spoke; Pontocerebellar hypoplasia type 1 (PCH1)" "" "" "" "" "" "" "" "" "" "" "" "0000085603" "03702" "00107842" "00006" "Familial, autosomal recessive" "09y" "floppy at birth; ocular motor apraxia; progressive muscle wasting, distal contractures; progressive microcephaly; growth retardation; global developmental delay; never reached any motor milestone or spoke; Pontocerebellar hypoplasia type 1 (PCH1)" "" "" "" "" "" "" "" "" "" "" "" "0000085604" "03702" "00107843" "00006" "Familial, autosomal recessive" "40m" "Pontocerebellar hypoplasia type 1 (PCH1)" "" "" "" "" "" "" "" "" "" "" "" "0000085605" "03702" "00107844" "00006" "Familial, autosomal recessive" "20y" "Pontocerebellar hypoplasia type 1 (PCH1)" "" "" "" "" "" "" "" "" "" "" "" "0000085606" "03702" "00107845" "00006" "Familial, autosomal recessive" "16y" "Pontocerebellar hypoplasia type 1 (PCH1)" "" "" "" "" "" "" "" "" "" "" "" "0000085607" "03702" "00107846" "00006" "Familial, autosomal recessive" "26m" "Pontocerebellar hypoplasia type 1 (PCH1)" "" "" "" "" "" "" "" "" "" "" "" "0000085608" "03702" "00107847" "00006" "Familial, autosomal recessive" "03y" "Pontocerebellar hypoplasia type 1 (PCH1)" "" "" "" "" "" "" "" "" "" "" "" "0000085609" "03702" "00107848" "00006" "Familial, autosomal recessive" "11m" "Pontocerebellar hypoplasia type 1 (PCH1)" "" "" "" "" "" "" "" "" "" "" "" "0000210648" "05331" "00275966" "01469" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PCH1B" "pontocerebellar hypoplasia" "" "0000210649" "05331" "00275967" "01469" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PCH1B" "pontocerebellar hypoplasia" "" "0000210650" "05331" "00275968" "01469" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PCH1B" "pontocerebellar hypoplasia" "" "0000210651" "05331" "00275969" "01469" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PCH1B" "pontocerebellar hypoplasia" "" "0000210652" "05331" "00275970" "01469" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PCH1B" "pontocerebellar hypoplasia" "" "0000223408" "00198" "00295932" "01164" "Unknown" "" "Cerebral palsy (HP:0100021); Hypoplasia of the pons (HP:0012110); Global developmental delay (HP:0001263); Abnormality of nervous system physiology (HP:0012638); Abnormality of head or neck (HP:0000152); Microcephaly (HP:0000252); Abnormality of the pons (HP:0007361)" "" "" "" "" "" "" "" "" "" "" "" "0000269525" "00198" "00374315" "00006" "Familial, autosomal recessive" "" "Drooping neck, upper limb hypotonia, brisk reflex in lower limb, delay in walking, motor and language delay and recurrent respiratory tract infection. MRI showed white matter volume loss." "" "" "" "" "" "" "" "" "" "encephalopathy" "" ## Screenings ## Do not remove or alter this header ## ## Count = 24 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000050430" "00050485" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000050493" "00050548" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000108304" "00107835" "1" "00006" "00002" "2012-06-01 11:29:22" "" "" "SEQ-NG-I" "DNA" "" "" "0000108305" "00107836" "1" "00006" "00002" "2012-06-01 11:29:22" "" "" "SEQ-NG-I" "DNA" "" "" "0000108306" "00107837" "1" "00006" "00002" "2012-06-01 11:29:22" "" "" "SEQ-NG-I" "DNA" "" "" "0000108307" "00107838" "1" "00006" "00002" "2012-06-01 11:29:22" "" "" "SEQ-NG-I" "DNA" "" "" "0000108308" "00107839" "1" "00006" "00002" "2012-06-01 11:29:22" "" "" "SEQ-NG-I" "DNA" "" "" "0000108309" "00107840" "1" "00006" "00002" "2012-06-01 11:29:22" "" "" "SEQ-NG-I" "DNA" "" "" "0000108310" "00107841" "1" "00006" "00002" "2012-06-01 11:29:22" "" "" "SEQ-NG-I" "DNA" "" "" "0000108311" "00107842" "1" "00006" "00002" "2012-06-01 11:29:22" "" "" "SEQ-NG-I" "DNA" "" "" "0000108312" "00107843" "1" "00006" "00002" "2012-06-01 11:29:22" "" "" "SEQ-NG-I" "DNA" "" "" "0000108313" "00107844" "1" "00006" "00002" "2012-06-01 11:29:22" "" "" "SEQ-NG-I" "DNA" "" "" "0000108314" "00107845" "1" "00006" "00002" "2012-06-01 11:29:22" "" "" "SEQ-NG-I" "DNA" "" "" "0000108315" "00107846" "1" "00006" "00002" "2012-06-01 11:29:22" "" "" "SEQ-NG-I" "DNA" "" "" "0000108316" "00107847" "1" "00006" "00002" "2012-06-01 11:29:22" "" "" "SEQ-NG-I" "DNA" "" "" "0000108317" "00107848" "1" "00006" "00002" "2012-06-01 11:29:22" "" "" "SEQ-NG-I" "DNA" "" "" "0000277119" "00275966" "1" "01469" "01469" "2020-01-21 18:30:23" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000277120" "00275967" "1" "01469" "01469" "2020-01-21 18:38:05" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000277121" "00275968" "1" "01469" "01469" "2020-01-21 18:43:53" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000277122" "00275969" "1" "01469" "01469" "2020-01-21 18:48:50" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000277123" "00275970" "1" "01469" "01469" "2020-01-21 18:53:40" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000296028" "00294860" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000297104" "00295932" "1" "01164" "01164" "2020-03-30 10:44:31" "" "" "SEQ-NG-S" "DNA" "" "" "0000375509" "00374315" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 17 "{{screeningid}}" "{{geneid}}" "0000050430" "EXOSC3" "0000050493" "EXOSC3" "0000108304" "EXOSC3" "0000108305" "EXOSC3" "0000108306" "EXOSC3" "0000108307" "EXOSC3" "0000108308" "EXOSC3" "0000108309" "EXOSC3" "0000108310" "EXOSC3" "0000108311" "EXOSC3" "0000108312" "EXOSC3" "0000108313" "EXOSC3" "0000108314" "EXOSC3" "0000108315" "EXOSC3" "0000108316" "EXOSC3" "0000108317" "EXOSC3" "0000375509" "EXOSC3" ## 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 = 50 "{{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}}" "0000079410" "3" "90" "9" "37783990" "37783990" "subst" "0.000381828" "00006" "EXOSC3_000001" "g.37783990T>G" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "Germline" "" "" "0" "" "" "g.37783993T>G" "" "pathogenic" "" "0000079473" "3" "90" "9" "37783990" "37783990" "subst" "0.000381828" "00006" "EXOSC3_000001" "g.37783990T>G" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "Germline" "" "" "0" "" "" "g.37783993T>G" "" "pathogenic" "" "0000174215" "1" "70" "9" "37784950" "37784950" "subst" "2.08415E-5" "00006" "EXOSC3_000002" "g.37784950C>G" "" "{PMID:Wan 2012:22544365}" "DdeI+;AvaI-" "" "not found in 188 (Turkish), 192 (Czech) or 378 (North American) control chromosomes" "Germline" "yes" "" "0" "" "" "g.37784953C>G" "" "likely pathogenic" "" "0000174216" "1" "70" "9" "37784950" "37784950" "subst" "2.08415E-5" "00006" "EXOSC3_000002" "g.37784950C>G" "" "{PMID:Wan 2012:22544365}" "DdeI+;AvaI-" "" "not found in 188 (Turkish), 192 (Czech) or 378 (North American) control chromosomes" "Germline" "yes" "" "0" "" "" "g.37784953C>G" "" "likely pathogenic" "" "0000174217" "3" "70" "9" "37784950" "37784950" "subst" "2.08415E-5" "00006" "EXOSC3_000002" "g.37784950C>G" "" "{PMID:Wan 2012:22544365}" "DdeI+;AvaI-" "" "not found in 188 (Turkish), 192 (Czech) or 378 (North American) control chromosomes" "Germline" "yes" "" "0" "" "" "g.37784953C>G" "" "likely pathogenic" "" "0000174218" "1" "70" "9" "37784741" "37784750" "del" "0" "00006" "EXOSC3_000004" "g.37784741_37784750del" "" "{PMID:Wan 2012:22544365}, {PMID:Ryan 2000:11020648}" "FauI+;BsrI-" "p.99fs*11" "not found in 188 (Turkish), 192 (Czech) or 378 (North American) control chromosomes" "Germline" "yes" "" "0" "" "" "g.37784744_37784753del" "" "likely pathogenic" "" "0000174219" "3" "70" "9" "37783990" "37783990" "subst" "0.000381828" "00006" "EXOSC3_000001" "g.37783990T>G" "" "{PMID:Wan 2012:22544365}" "" "" "not found in 188 (Turkish), 192 (Czech) or 378 (North American) control chromosomes" "Germline" "yes" "" "0" "" "" "g.37783993T>G" "" "likely pathogenic" "" "0000174220" "3" "70" "9" "37783990" "37783990" "subst" "0.000381828" "00006" "EXOSC3_000001" "g.37783990T>G" "" "{PMID:Wan 2012:22544365}" "" "" "not found in 188 (Turkish), 192 (Czech) or 378 (North American) control chromosomes" "Germline" "yes" "" "0" "" "" "g.37783993T>G" "" "likely pathogenic" "" "0000174221" "3" "70" "9" "37783990" "37783990" "subst" "0.000381828" "00006" "EXOSC3_000001" "g.37783990T>G" "" "{PMID:Wan 2012:22544365}" "" "" "not found in 188 (Turkish), 192 (Czech) or 378 (North American) control chromosomes" "Germline" "yes" "" "0" "" "" "g.37783993T>G" "" "likely pathogenic" "" "0000174222" "3" "70" "9" "37783990" "37783990" "subst" "0.000381828" "00006" "EXOSC3_000001" "g.37783990T>G" "" "{PMID:Wan 2012:22544365}" "" "" "not found in 188 (Turkish), 192 (Czech) or 378 (North American) control chromosomes" "Germline" "yes" "" "0" "" "" "g.37783993T>G" "" "likely pathogenic" "" "0000174223" "3" "70" "9" "37783990" "37783990" "subst" "0.000381828" "00006" "EXOSC3_000001" "g.37783990T>G" "" "{PMID:Wan 2012:22544365}, {PMID:Salman 2003:12731647}" "" "" "not found in 188 (Turkish), 192 (Czech) or 378 (North American) control chromosomes" "Germline" "yes" "" "0" "" "" "g.37783993T>G" "" "likely pathogenic" "" "0000174224" "3" "70" "9" "37783990" "37783990" "subst" "0.000381828" "00006" "EXOSC3_000001" "g.37783990T>G" "" "{PMID:Wan 2012:22544365}, {PMID:Salman 2003:12731647}" "" "" "not found in 188 (Turkish), 192 (Czech) or 378 (North American) control chromosomes" "Germline" "yes" "" "0" "" "" "g.37783993T>G" "" "likely pathogenic" "" "0000174225" "3" "70" "9" "37783990" "37783990" "subst" "0.000381828" "00006" "EXOSC3_000001" "g.37783990T>G" "" "{PMID:Wan 2012:22544365}, {PMID:Salman 2003:12731647}" "" "" "not found in 188 (Turkish), 192 (Czech) or 378 (North American) control chromosomes" "Germline" "yes" "" "0" "" "" "g.37783993T>G" "" "likely pathogenic" "" "0000174226" "2" "70" "9" "37783990" "37783990" "subst" "0.000381828" "00006" "EXOSC3_000001" "g.37783990T>G" "" "{PMID:Wan 2012:22544365}, {PMID:Ryan 2000:11020648}" "" "" "not found in 188 (Turkish), 192 (Czech) or 378 (North American) control chromosomes" "Germline" "yes" "" "0" "" "" "g.37783993T>G" "" "likely pathogenic" "" "0000174227" "2" "70" "9" "37783990" "37783990" "subst" "0.000381828" "00006" "EXOSC3_000001" "g.37783990T>G" "" "{PMID:Wan 2012:22544365}" "" "" "not found in 188 (Turkish), 192 (Czech) or 378 (North American) control chromosomes" "Germline" "yes" "" "0" "" "" "g.37783993T>G" "" "likely pathogenic" "" "0000174228" "3" "70" "9" "37783990" "37783990" "subst" "0.000381828" "00006" "EXOSC3_000001" "g.37783990T>G" "" "{PMID:Wan 2012:22544365}" "" "" "not found in 188 (Turkish), 192 (Czech) or 378 (North American) control chromosomes" "Germline" "yes" "" "0" "" "" "g.37783993T>G" "" "likely pathogenic" "" "0000174229" "2" "70" "9" "37783990" "37783990" "subst" "0.000381828" "00006" "EXOSC3_000001" "g.37783990T>G" "" "{PMID:Wan 2012:22544365}, {PMID:Ryan 2000:11020648}" "" "" "not found in 188 (Turkish), 192 (Czech) or 378 (North American) control chromosomes" "Germline" "yes" "" "0" "" "" "g.37783993T>G" "" "likely pathogenic" "" "0000174230" "1" "70" "9" "37783970" "37783970" "subst" "8.12612E-6" "00006" "EXOSC3_000006" "g.37783970C>G" "" "{PMID:Wan 2012:22544365}, {PMID:Ryan 2000:11020648}" "CspCI+;AluI-" "" "not found in 188 (Turkish), 192 (Czech) or 378 (North American) control chromosomes" "Germline" "yes" "" "0" "" "" "g.37783973C>G" "" "likely pathogenic" "" "0000174231" "1" "70" "9" "37782146" "37782146" "subst" "1.23184E-5" "00006" "EXOSC3_000005" "g.37782146T>C" "" "{PMID:Wan 2012:22544365}" "" "" "Exon 3 skipping with frame shift; also aberrant splicing (incorporation of 11 nucleotides upstream of the normal splice site, introduction of a new splice acceptor site); not found in 188 (Turkish), 192 (Czech) or 378 (North American) control chromosomes" "Germline" "yes" "" "0" "" "" "g.37782149T>C" "" "likely pathogenic" "" "0000174232" "2" "70" "9" "37780792" "37780792" "subst" "0" "00006" "EXOSC3_000003" "g.37780792A>G" "" "{PMID:Wan 2012:22544365}" "" "" "not found in 188 (Turkish), 192 (Czech) or 378 (North American) control chromosomes" "Germline" "yes" "" "0" "" "" "g.37780795A>G" "" "likely pathogenic" "" "0000174233" "2" "70" "9" "37780792" "37780792" "subst" "0" "00006" "EXOSC3_000003" "g.37780792A>G" "" "{PMID:Wan 2012:22544365}" "" "" "not found in 188 (Turkish), 192 (Czech) or 378 (North American) control chromosomes" "Germline" "yes" "" "0" "" "" "g.37780795A>G" "" "likely pathogenic" "" "0000265923" "0" "10" "9" "37782111" "37782111" "subst" "0.535673" "02330" "EXOSC3_000007" "g.37782111C>T" "" "" "" "EXOSC3(NM_016042.4):c.498G>A (p.Q166=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.37782114C>T" "" "benign" "" "0000267916" "0" "10" "9" "37782111" "37782111" "subst" "0.535673" "02325" "EXOSC3_000007" "g.37782111C>T" "" "" "" "EXOSC3(NM_016042.4):c.498G>A (p.Q166=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.37782114C>T" "" "benign" "" "0000271269" "0" "70" "9" "37784804" "37784804" "subst" "0.00015611" "02326" "EXOSC3_000008" "g.37784804C>A" "" "" "" "EXOSC3(NM_016042.4):c.238G>T (p.V80F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.37784807C>A" "" "likely pathogenic" "" "0000271270" "0" "90" "9" "37783990" "37783990" "subst" "0.000381828" "02326" "EXOSC3_000001" "g.37783990T>G" "" "" "" "EXOSC3(NM_016042.3):c.395A>C (p.D132A), EXOSC3(NM_016042.4):c.395A>C (p.(Asp132Ala), p.D132A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.37783993T>G" "" "pathogenic" "" "0000538187" "0" "90" "9" "37783990" "37783990" "subst" "0.000381828" "01943" "EXOSC3_000001" "g.37783990T>G" "" "" "" "EXOSC3(NM_016042.3):c.395A>C (p.D132A), EXOSC3(NM_016042.4):c.395A>C (p.(Asp132Ala), p.D132A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.37783993T>G" "" "pathogenic" "" "0000538190" "0" "70" "9" "37785039" "37785039" "subst" "0" "01943" "EXOSC3_000010" "g.37785039C>A" "" "" "" "EXOSC3(NM_016042.3):c.3G>T (p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.37785042C>A" "" "likely pathogenic" "" "0000612129" "0" "70" "9" "37783957" "37783960" "del" "0" "01804" "EXOSC3_000011" "g.37783957_37783960del" "" "" "" "EXOSC3(NM_001002269.2):c.428_431del (p.(Tyr143CysfsTer82))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.37783960_37783963del" "" "likely pathogenic" "" "0000631850" "0" "70" "9" "37783990" "37783990" "subst" "0.000381828" "01469" "EXOSC3_000001" "g.37783990T>G" "" "" "" "g.6100A>C" "" "Germline" "" "" "" "" "" "g.37783993T>G" "" "pathogenic" "" "0000631851" "0" "70" "9" "37782064" "37782064" "subst" "0" "01469" "EXOSC3_000012" "g.37782064T>A" "" "" "" "g.8026A>T" "" "Germline" "" "" "" "" "" "g.37782067T>A" "" "likely pathogenic" "" "0000631852" "0" "70" "9" "37783990" "37783990" "subst" "0.000381828" "01469" "EXOSC3_000001" "g.37783990T>G" "" "" "" "g.6100A>C" "" "Germline" "" "" "" "" "" "g.37783993T>G" "" "pathogenic" "" "0000631853" "0" "70" "9" "37784741" "37784750" "del" "0" "01469" "EXOSC3_000004" "g.37784741_37784750del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.37784744_37784753del" "" "pathogenic" "" "0000631854" "3" "70" "9" "37783990" "37783990" "subst" "0.000381828" "01469" "EXOSC3_000001" "g.37783990T>G" "" "" "" "g.6100A>C" "" "Germline" "" "" "" "" "" "g.37783993T>G" "" "pathogenic" "" "0000631855" "3" "70" "9" "37783990" "37783990" "subst" "0.000381828" "01469" "EXOSC3_000001" "g.37783990T>G" "" "" "" "g.6100A>C" "" "Germline" "" "" "" "" "" "g.37783993T>G" "" "pathogenic" "" "0000631856" "3" "70" "9" "37784950" "37784950" "subst" "2.08415E-5" "01469" "EXOSC3_000002" "g.37784950C>G" "" "" "" "g.5140G>C" "" "Germline" "" "" "" "" "" "g.37784953C>G" "" "likely pathogenic" "" "0000652717" "1" "70" "9" "37784804" "37784804" "subst" "0.00015611" "03575" "EXOSC3_000008" "g.37784804C>A" "5/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "5 heterozygous, no homozygous; {DB:CLININrs374550999}" "Germline" "" "rs374550999" "0" "" "" "g.37784807C>A" "" "likely pathogenic" "" "0000656358" "0" "30" "9" "37783955" "37783955" "subst" "0.000268184" "01943" "EXOSC3_000013" "g.37783955A>G" "" "" "" "EXOSC3(NM_016042.3):c.430T>C (p.L144=), EXOSC3(NM_016042.4):c.430T>C (p.L144=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.37783958A>G" "" "likely benign" "" "0000659720" "3" "90" "9" "37784950" "37784950" "subst" "2.08415E-5" "01164" "EXOSC3_000002" "g.37784950C>G" "" "" "" "" "ACMG: PS4, PM3, PP3_MOD, PS3_SUP, PM2_SUP, PP1; Wan et al. 2012. Nat Genet 44: 704; Schwabova et al. 2013. J Neurogene 27: 163; Eggens et al. 2014. Orphanet J Rare 9: 23" "Germline" "" "rs387907196" "0" "" "" "g.37784953C>G" "" "pathogenic" "ACMG" "0000722535" "0" "50" "9" "37782012" "37782013" "ins" "0" "01943" "EXOSC3_000014" "g.37782012_37782013insGGCTT" "" "" "" "EXOSC3(NM_016042.3):c.596_597insAAGCC (p.F200Sfs*5)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000786860" "3" "90" "9" "37783990" "37783990" "subst" "0.000381828" "00006" "EXOSC3_000001" "g.37783990T>G" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.37783993T>G" "" "pathogenic" "" "0000804142" "0" "30" "9" "37782021" "37782021" "subst" "0.000463106" "01943" "EXOSC3_000015" "g.37782021A>G" "" "" "" "EXOSC3(NM_016042.3):c.588T>C (p.D196=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000852284" "0" "70" "9" "37785041" "37785041" "subst" "3.54221E-5" "01943" "EXOSC3_000019" "g.37785041T>C" "" "" "" "EXOSC3(NM_016042.3):c.1A>G (p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000861698" "0" "30" "9" "37780719" "37780719" "subst" "4.0627E-5" "01943" "EXOSC3_000016" "g.37780719G>A" "" "" "" "EXOSC3(NM_016042.3):c.785C>T (p.S262L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861699" "0" "50" "9" "37780795" "37780795" "subst" "2.84433E-5" "01943" "EXOSC3_000017" "g.37780795T>G" "" "" "" "EXOSC3(NM_016042.3):c.709A>C (p.I237L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861700" "0" "30" "9" "37784823" "37784823" "subst" "0.000130541" "01943" "EXOSC3_000018" "g.37784823G>T" "" "" "" "EXOSC3(NM_016042.3):c.219C>A (p.R73=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888862" "0" "30" "9" "37783955" "37783955" "subst" "0.000268184" "02326" "EXOSC3_000013" "g.37783955A>G" "" "" "" "EXOSC3(NM_016042.3):c.430T>C (p.L144=), EXOSC3(NM_016042.4):c.430T>C (p.L144=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978720" "0" "70" "9" "37784732" "37784733" "del" "0" "01804" "EXOSC3_000021" "g.37784732_37784733del" "" "" "" "EXOSC3(NM_016042.4):c.312_313del (p.(Gln105Alafs*19))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000978721" "0" "50" "9" "37784795" "37784795" "subst" "4.29941E-5" "01804" "EXOSC3_000022" "g.37784795A>C" "" "" "" "EXOSC3(NM_016042.4):c.247T>G (p.(Cys83Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037540" "0" "30" "9" "37783725" "37783725" "subst" "0" "01804" "EXOSC3_000023" "g.37783725T>C" "" "" "" "EXOSC3(NM_016042.4):c.474+186A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037541" "0" "90" "9" "37783990" "37783990" "subst" "0.000381828" "01804" "EXOSC3_000001" "g.37783990T>G" "" "" "" "EXOSC3(NM_016042.3):c.395A>C (p.D132A), EXOSC3(NM_016042.4):c.395A>C (p.(Asp132Ala), p.D132A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" ## 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 EXOSC3 ## Count = 50 "{{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}}" "0000079410" "00007311" "00" "395" "0" "395" "0" "c.395A>C" "r.(?)" "p.(Asp132Ala)" "" "0000079473" "00007311" "00" "395" "0" "395" "0" "c.395A>C" "r.(?)" "p.(Asp132Ala)" "" "0000174215" "00007311" "70" "92" "0" "92" "0" "c.92G>C" "r.(?)" "p.(Gly31Ala)" "1" "0000174216" "00007311" "70" "92" "0" "92" "0" "c.92G>C" "r.(?)" "p.(Gly31Ala)" "1" "0000174217" "00007311" "70" "92" "0" "92" "0" "c.92G>C" "r.(?)" "p.(Gly31Ala)" "1" "0000174218" "00007311" "70" "294" "0" "303" "0" "c.294_303del" "r.(?)" "p.(Val99Trpfs*11)" "1" "0000174219" "00007311" "70" "395" "0" "395" "0" "c.395A>C" "r.(?)" "p.(Asp132Ala)" "2" "0000174220" "00007311" "70" "395" "0" "395" "0" "c.395A>C" "r.(?)" "p.(Asp132Ala)" "2" "0000174221" "00007311" "70" "395" "0" "395" "0" "c.395A>C" "r.(?)" "p.(Asp132Ala)" "2" "0000174222" "00007311" "70" "395" "0" "395" "0" "c.395A>C" "r.(?)" "p.(Asp132Ala)" "2" "0000174223" "00007311" "70" "395" "0" "395" "0" "c.395A>C" "r.(?)" "p.(Asp132Ala)" "2" "0000174224" "00007311" "70" "395" "0" "395" "0" "c.395A>C" "r.(?)" "p.(Asp132Ala)" "2" "0000174225" "00007311" "70" "395" "0" "395" "0" "c.395A>C" "r.(?)" "p.(Asp132Ala)" "2" "0000174226" "00007311" "70" "395" "0" "395" "0" "c.395A>C" "r.(?)" "p.(Asp132Ala)" "2" "0000174227" "00007311" "70" "395" "0" "395" "0" "c.395A>C" "r.(?)" "p.(Asp132Ala)" "2" "0000174228" "00007311" "70" "395" "0" "395" "0" "c.395A>C" "r.(?)" "p.(Asp132Ala)" "2" "0000174229" "00007311" "70" "395" "0" "395" "0" "c.395A>C" "r.(?)" "p.(Asp132Ala)" "2" "0000174230" "00007311" "70" "415" "0" "415" "0" "c.415G>C" "r.(?)" "p.(Ala139Pro)" "2" "0000174231" "00007311" "70" "475" "-12" "475" "-12" "c.475-12A>G" "r.475_626del" "p.(Val159Alafs*7)" "2i" "0000174232" "00007311" "70" "712" "0" "712" "0" "c.712T>C" "r.(?)" "p.(Trp238Arg)" "4" "0000174233" "00007311" "70" "712" "0" "712" "0" "c.712T>C" "r.(?)" "p.(Trp238Arg)" "4" "0000265923" "00007311" "10" "498" "0" "498" "0" "c.498G>A" "r.(?)" "p.(Gln166=)" "" "0000267916" "00007311" "10" "498" "0" "498" "0" "c.498G>A" "r.(?)" "p.(Gln166=)" "" "0000271269" "00007311" "70" "238" "0" "238" "0" "c.238G>T" "r.(?)" "p.(Val80Phe)" "" "0000271270" "00007311" "90" "395" "0" "395" "0" "c.395A>C" "r.(?)" "p.(Asp132Ala)" "" "0000538187" "00007311" "90" "395" "0" "395" "0" "c.395A>C" "r.(?)" "p.(Asp132Ala)" "" "0000538190" "00007311" "70" "3" "0" "3" "0" "c.3G>T" "r.(?)" "p.(Met1?)" "" "0000612129" "00007311" "70" "428" "0" "431" "0" "c.428_431del" "r.(?)" "p.(Tyr143CysfsTer59)" "" "0000631850" "00007311" "70" "395" "0" "395" "0" "c.395A>C" "r.(?)" "p.(Asp132Ala)" "" "0000631851" "00007311" "70" "545" "0" "545" "0" "c.545A>T" "r.(?)" "p.(Asp182Val)" "" "0000631852" "00007311" "70" "395" "0" "395" "0" "c.395A>C" "r.(?)" "p.(Asp132Ala)" "" "0000631853" "00007311" "70" "294" "0" "303" "0" "c.294_303del" "r.(?)" "p.(Val99Trpfs*11)" "" "0000631854" "00007311" "70" "395" "0" "395" "0" "c.395A>C" "r.(?)" "p.(Asp132Ala)" "" "0000631855" "00007311" "70" "395" "0" "395" "0" "c.395A>C" "r.(?)" "p.(Asp132Ala)" "" "0000631856" "00007311" "70" "92" "0" "92" "0" "c.92G>C" "r.(?)" "p.(Gly31Ala)" "" "0000652717" "00007311" "70" "238" "0" "238" "0" "c.238G>T" "r.(?)" "p.(Val80Phe)" "" "0000656358" "00007311" "30" "430" "0" "430" "0" "c.430T>C" "r.(?)" "p.(Leu144=)" "" "0000659720" "00007311" "90" "92" "0" "92" "0" "c.92G>C" "r.(?)" "p.(Gly31Ala)" "" "0000722535" "00007311" "50" "596" "0" "597" "0" "c.596_597insAAGCC" "r.(?)" "p.(Phe200Serfs*5)" "" "0000786860" "00007311" "90" "395" "0" "395" "0" "c.395A>C" "r.(?)" "p.(Asp132Ala)" "2" "0000804142" "00007311" "30" "588" "0" "588" "0" "c.588T>C" "r.(?)" "p.(Asp196=)" "" "0000852284" "00007311" "70" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.(Met1?)" "" "0000861698" "00007311" "30" "785" "0" "785" "0" "c.785C>T" "r.(?)" "p.(Ser262Leu)" "" "0000861699" "00007311" "50" "709" "0" "709" "0" "c.709A>C" "r.(?)" "p.(Ile237Leu)" "" "0000861700" "00007311" "30" "219" "0" "219" "0" "c.219C>A" "r.(?)" "p.(Arg73=)" "" "0000888862" "00007311" "30" "430" "0" "430" "0" "c.430T>C" "r.(?)" "p.(Leu144=)" "" "0000978720" "00007311" "70" "312" "0" "313" "0" "c.312_313del" "r.(?)" "p.(Gln105Alafs*19)" "" "0000978721" "00007311" "50" "247" "0" "247" "0" "c.247T>G" "r.(?)" "p.(Cys83Gly)" "" "0001037540" "00007311" "30" "474" "186" "474" "186" "c.474+186A>G" "r.(=)" "p.(=)" "" "0001037541" "00007311" "90" "395" "0" "395" "0" "c.395A>C" "r.(?)" "p.(Asp132Ala)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 31 "{{screeningid}}" "{{variantid}}" "0000050430" "0000079410" "0000050493" "0000079473" "0000108304" "0000174215" "0000108304" "0000174232" "0000108305" "0000174216" "0000108305" "0000174233" "0000108306" "0000174217" "0000108307" "0000174218" "0000108307" "0000174226" "0000108308" "0000174219" "0000108309" "0000174220" "0000108310" "0000174221" "0000108311" "0000174222" "0000108312" "0000174223" "0000108313" "0000174224" "0000108314" "0000174225" "0000108315" "0000174227" "0000108315" "0000174231" "0000108316" "0000174228" "0000108317" "0000174229" "0000108317" "0000174230" "0000277119" "0000631850" "0000277119" "0000631851" "0000277120" "0000631852" "0000277120" "0000631853" "0000277121" "0000631854" "0000277122" "0000631855" "0000277123" "0000631856" "0000296028" "0000652717" "0000297104" "0000659720" "0000375509" "0000786860"