### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ATXN1) # 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}}" "ATXN1" "ataxin 1" "6" "p23" "unknown" "NG_011571.1" "UD_132118692034" "" "https://www.LOVD.nl/ATXN1" "" "1" "10548" "6310" "601556" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/ATXN1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2017-03-20 16:33:12" "00000" "2024-08-28 13:16:32" ## 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}}" "00003159" "ATXN1" "transcript variant 1" "002" "NM_000332.3" "" "NP_000323.2" "" "" "" "-971" "9665" "2448" "16761721" "16299343" "" "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" "01474" "SCA1" "ataxia, spinocerebellar, type 1 (SCA-1)" "AD" "164400" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "06906" "DEE" "encephalopathy, developmental and epileptic" "" "" "" "" "" "00006" "2022-04-07 09:24:23" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "ATXN1" "01474" ## Individuals ## Do not remove or alter this header ## ## Count = 17 "{{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}}" "00104548" "" "" "" "1" "" "00006" "{PMID:Zuhlke 2002:11973625}, {DOI:Zuhlke 2002:10.1038/sj.ejhg.5200788}" "" "M" "no" "Germany" "" "0" "" "" "" "11973625-PatB" "00104549" "" "" "" "1" "" "00006" "{PMID:Zuhlke 2002:11973625}, {DOI:Zuhlke 2002:10.1038/sj.ejhg.5200788}" "" "F" "no" "Germany" "" "0" "" "" "" "11973625-PatC" "00104550" "" "" "" "1" "" "00006" "{PMID:Zuhlke 2002:11973625}, {DOI:Zuhlke 2002:10.1038/sj.ejhg.5200788}" "" "M" "no" "Germany" "" "0" "" "" "" "11973626-PatD" "00104551" "" "" "" "1" "" "00006" "{PMID:Zuhlke 2002:11973625}, {DOI:Zuhlke 2002:10.1038/sj.ejhg.5200788}" "" "F" "no" "Germany" "" "0" "" "" "" "11973627-PatE" "00104552" "" "" "" "1" "" "00006" "{PMID:Zuhlke 2002:11973625}, {DOI:Zuhlke 2002:10.1038/sj.ejhg.5200788}" "" "M" "no" "Germany" "" "0" "" "" "" "11973628-PatF" "00104553" "" "" "" "1" "" "00006" "{PMID:Zuhlke 2002:11973625}, {DOI:Zuhlke 2002:10.1038/sj.ejhg.5200788}" "" "F" "no" "Germany" "" "0" "" "" "" "11973629-PatG" "00104554" "" "" "" "1" "" "00006" "{PMID:Zuhlke 2002:11973625}, {DOI:Zuhlke 2002:10.1038/sj.ejhg.5200788}" "" "F" "no" "Germany" "" "0" "" "" "" "11973630-PatH" "00104555" "" "" "" "1" "" "00006" "{PMID:Zuhlke 2002:11973625}, {DOI:Zuhlke 2002:10.1038/sj.ejhg.5200788}" "" "M" "no" "Germany" "" "0" "" "" "" "11973631-PatI" "00104556" "" "" "" "1" "" "00006" "{PMID:Zuhlke 2002:11973625}, {DOI:Zuhlke 2002:10.1038/sj.ejhg.5200788}" "" "F" "no" "Germany" "" "0" "" "" "" "11973632-PatK" "00104557" "" "" "" "3" "" "00006" "{PMID:Zuhlke 2002:11973625}, {DOI:Zuhlke 2002:10.1038/sj.ejhg.5200788}" "patient Fam1PatI1" "M" "no" "Germany" "" "0" "" "" "" "11973634-PatM" "00104558" "" "" "00104557" "1" "" "00006" "{PMID:Zuhlke 2002:11973625}, {DOI:Zuhlke 2002:10.1038/sj.ejhg.5200788}" "patient Fam1PatII2" "M" "no" "Germany" "" "0" "" "" "" "11973633-PatL" "00104559" "" "" "00104557" "1" "" "00006" "{PMID:Zuhlke 2002:11973625}, {DOI:Zuhlke 2002:10.1038/sj.ejhg.5200788}" "patient Fam1PatII1" "F" "no" "Germany" "" "0" "" "" "" "11973635-PatN" "00104560" "" "" "" "1" "" "00006" "{PMID:Zuhlke 2002:11973625}, {DOI:Zuhlke 2002:10.1038/sj.ejhg.5200788}" "" "M" "no" "Germany" "" "0" "" "" "" "11973636-PatO" "00104561" "" "" "" "1" "" "00006" "{PMID:Zuhlke 2002:11973625}, {DOI:Zuhlke 2002:10.1038/sj.ejhg.5200788}" "" "F" "no" "Germany" "" "0" "" "" "" "11973637-PatP" "00104562" "" "" "" "1" "" "00006" "{PMID:Zuhlke 2002:11973625}, {DOI:Zuhlke 2002:10.1038/sj.ejhg.5200788}" "" "F" "no" "Germany" "" "0" "" "" "" "11973638-PatQ" "00104563" "" "" "" "1" "" "00006" "{PMID:Zuhlke 2002:11973625}, {DOI:Zuhlke 2002:10.1038/sj.ejhg.5200788}" "" "F" "no" "Germany" "" "0" "" "" "" "11973639-PatR" "00443881" "" "" "" "1" "" "00006" "{PMID:Chatron 2020:32282878}" "3-generation family, 1 affected brother, unaffected heterozygous parents/relatives" "F" "yes" "Brazil" "" "0" "" "" "" "FamFPatIV1" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 17 "{{individualid}}" "{{diseaseid}}" "00104548" "00198" "00104549" "00198" "00104550" "00198" "00104551" "00198" "00104552" "00198" "00104553" "00198" "00104554" "00198" "00104555" "00198" "00104556" "00198" "00104557" "01474" "00104558" "01474" "00104559" "01474" "00104560" "01474" "00104561" "01474" "00104562" "01474" "00104563" "01474" "00443881" "06906" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01474, 06906 ## Count = 17 "{{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}}" "0000082465" "00198" "00104548" "00006" "Unknown" "57y" "ataxia (no SCA), disease duration unknown; no family history" "?" "" "" "" "" "" "" "" "" "" "" "0000082466" "00198" "00104549" "00006" "Unknown" "60y" "ataxia (no SCA), disease duration unknown; no family history" "?" "" "" "" "" "" "" "" "" "" "" "0000082467" "00198" "00104550" "00006" "Unknown" "35y" "ataxia (no SCA), disease duration unknown; no family history" "?" "" "" "" "" "" "" "" "" "" "" "0000082468" "00198" "00104551" "00006" "Unknown" "49y" "no ataxia (no SCA), disease duration 48y; general cognitive impairment with severe developmental speech and motor delay, chorea, dystonia, rigor, and myoclonus, but no cerebellar symptoms such as ataxia or dysarthira; MRI no cerebellar abnormalities; no family history" "1y" "" "" "" "" "" "" "" "" "" "" "0000082469" "00198" "00104552" "00006" "Unknown" "73y" "ataxia (no SCA), disease duration 48y;spastic paraplegia with bilateral Babinski\'s sign, impaired proprioception; MRI: marked atrophy spinal cord; no family history" "32y" "" "" "" "" "" "" "" "" "" "" "0000082470" "00198" "00104553" "00006" "Unknown" "54y" "see paper; …" "53y" "" "" "" "" "" "" "" "" "" "" "0000082471" "00198" "00104554" "00006" "Unknown" "42y" "see paper; …" "?" "" "" "" "" "" "" "" "" "" "" "0000082472" "00198" "00104555" "00006" "Unknown" "52y" "see paper; …" "48y" "" "" "" "" "" "" "" "" "" "" "0000082473" "00198" "00104556" "00006" "Unknown" "58y" "see paper; …" "<44y" "" "" "" "" "" "" "" "" "" "" "0000082474" "01474" "00104558" "00006" "Familial, autosomal dominant" "66y" "see paper; …" "60y" "" "" "" "" "" "" "" "" "" "" "0000082475" "01474" "00104557" "00006" "Familial, autosomal dominant" "90y" "see paper; …" "85y" "" "" "" "" "" "" "" "" "" "" "0000082476" "01474" "00104559" "00006" "Familial, autosomal dominant" "68y" "see paper; …" "57y" "" "" "" "" "" "" "" "" "" "" "0000082477" "01474" "00104560" "00006" "Familial, autosomal dominant" "60y" "see paper; …" "49y" "" "" "" "" "" "" "" "" "" "" "0000082478" "01474" "00104561" "00006" "Familial, autosomal dominant" "22y" "see paper; …" "?" "" "" "" "" "" "" "" "" "" "" "0000082479" "01474" "00104562" "00006" "Familial, autosomal dominant" "76y" "see paper; …" "69y" "" "" "" "" "" "" "" "" "" "" "0000082480" "01474" "00104563" "00006" "Familial, autosomal dominant" "68y" "see paper; …" "52y" "" "" "" "" "" "" "" "" "" "" "0000333158" "06906" "00443881" "00006" "Familial, autosomal recessive" "6y11m" "see paper; ..., 7d-myoclonic seizure; tonic seizures, epileptic spasms, focal seizures; EEG at onset suppression-burst pattern; occasional seizure; dystonia and hyperkinetic movements; profound intellectual disability; no pes equinovarus; no omphalocele; no cleft palate; joint contractures; no dysmorphic facial features; MRI brain 4m-normal, 13m-mild cerebral atrophy, 6y-mild cerebral atrophy with ventricular dilation" "" "" "" "" "" "" "" "" "DEE89" "neonatal developmental and epileptic encephalopathy" "" ## Screenings ## Do not remove or alter this header ## ## Count = 17 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000105020" "00104548" "1" "00006" "00006" "2017-05-12 18:35:07" "" "" "PCR;SEQ" "DNA" "" "" "0000105021" "00104549" "1" "00006" "00006" "2017-05-12 18:35:07" "" "" "PCR;SEQ" "DNA" "" "" "0000105022" "00104550" "1" "00006" "00006" "2017-05-12 18:35:07" "" "" "PCR;SEQ" "DNA" "" "" "0000105023" "00104551" "1" "00006" "00006" "2017-05-12 18:35:07" "" "" "PCR;SEQ" "DNA" "" "" "0000105024" "00104552" "1" "00006" "00006" "2017-05-12 18:35:07" "" "" "PCR;SEQ" "DNA" "" "" "0000105025" "00104553" "1" "00006" "00006" "2017-05-12 18:35:07" "" "" "PCR;SEQ" "DNA" "" "" "0000105026" "00104554" "1" "00006" "00006" "2017-05-12 18:35:07" "" "" "PCR;SEQ" "DNA" "" "" "0000105027" "00104555" "1" "00006" "00006" "2017-05-12 18:35:07" "" "" "PCR;SEQ" "DNA" "" "" "0000105028" "00104556" "1" "00006" "00006" "2017-05-12 18:35:07" "" "" "PCR;SEQ" "DNA" "" "" "0000105029" "00104558" "1" "00006" "00006" "2017-05-12 18:35:07" "" "" "PCR;SEQ" "DNA" "" "" "0000105030" "00104557" "1" "00006" "00006" "2017-05-12 18:35:07" "" "" "PCR;SEQ" "DNA" "" "" "0000105031" "00104559" "1" "00006" "00006" "2017-05-12 18:35:07" "" "" "PCR;SEQ" "DNA" "" "" "0000105032" "00104560" "1" "00006" "00006" "2017-05-12 18:35:07" "" "" "PCR;SEQ" "DNA" "" "" "0000105033" "00104561" "1" "00006" "00006" "2017-05-12 18:35:07" "" "" "PCR;SEQ" "DNA" "" "" "0000105034" "00104562" "1" "00006" "00006" "2017-05-12 18:35:07" "" "" "PCR;SEQ" "DNA" "" "" "0000105035" "00104563" "1" "00006" "00006" "2017-05-12 18:35:07" "" "" "PCR;SEQ" "DNA" "" "" "0000445378" "00443881" "1" "00006" "00006" "2023-12-05 10:17:31" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 16 "{{screeningid}}" "{{geneid}}" "0000105020" "ATXN1" "0000105021" "ATXN1" "0000105022" "ATXN1" "0000105023" "ATXN1" "0000105024" "ATXN1" "0000105025" "ATXN1" "0000105026" "ATXN1" "0000105027" "ATXN1" "0000105028" "ATXN1" "0000105029" "ATXN1" "0000105030" "ATXN1" "0000105031" "ATXN1" "0000105032" "ATXN1" "0000105033" "ATXN1" "0000105034" "ATXN1" "0000105035" "ATXN1" ## 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 = 96 "{{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}}" "0000170249" "1" "30" "6" "16327953" "16327955" "dup" "0" "00006" "ATXN1_000001" "g.16327953_16327955dup" "" "{PMID:Zuhlke 2002:11973625}, {DOI:Zuhlke 2002:10.1038/sj.ejhg.5200788}" "" "591_677[30]" "" "Germline" "?" "" "0" "" "" "g.16327722_16327724dup" "" "likely benign" "" "0000170250" "2" "50" "6" "16327865" "16327870" "" "0" "00006" "ATXN1_000002" "g.16327865_16327870dup;16327916_16327930dup" "" "{PMID:Zuhlke 2002:11973625}, {DOI:Zuhlke 2002:10.1038/sj.ejhg.5200788}" "" "591_677[36]" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000170251" "1" "10" "6" "16327953" "16327955" "del" "0" "00006" "ATXN1_000005" "g.16327953_16327955del" "" "{PMID:Zuhlke 2002:11973625}, {DOI:Zuhlke 2002:10.1038/sj.ejhg.5200788}" "" "591_677[26]" "" "Germline" "" "" "0" "" "" "g.16327722_16327724del" "" "benign" "" "0000170252" "1" "10" "6" "16327865" "16327951" "" "0" "00006" "ATXN1_000000" "g.16327865_16327951=" "" "{PMID:Zuhlke 2002:11973625}, {DOI:Zuhlke 2002:10.1038/sj.ejhg.5200788}" "" "591_677[29]" "" "Germline" "" "" "0" "" "" "g.16327634_16327720=" "" "benign" "" "0000170253" "1" "10" "6" "16327906" "16327908" "dup" "0" "00006" "ATXN1_000004" "g.16327906_16327908dup" "" "{PMID:Zuhlke 2002:11973625}, {DOI:Zuhlke 2002:10.1038/sj.ejhg.5200788}" "" "591_677[30]" "" "Germline" "" "" "0" "" "" "g.16327675_16327677dup" "" "benign" "" "0000170254" "1" "10" "6" "16327906" "16327908" "dup" "0" "00006" "ATXN1_000004" "g.16327906_16327908dup" "" "{PMID:Zuhlke 2002:11973625}, {DOI:Zuhlke 2002:10.1038/sj.ejhg.5200788}" "" "591_677[30]" "" "Germline" "" "" "0" "" "" "g.16327675_16327677dup" "" "benign" "" "0000170255" "1" "10" "6" "16327906" "16327908" "dup" "0" "00006" "ATXN1_000004" "g.16327906_16327908dup" "" "{PMID:Zuhlke 2002:11973625}, {DOI:Zuhlke 2002:10.1038/sj.ejhg.5200788}" "" "591_677[30]" "" "Germline" "" "" "0" "" "" "g.16327675_16327677dup" "" "benign" "" "0000170256" "1" "10" "6" "16327906" "16327908" "dup" "0" "00006" "ATXN1_000004" "g.16327906_16327908dup" "" "{PMID:Zuhlke 2002:11973625}, {DOI:Zuhlke 2002:10.1038/sj.ejhg.5200788}" "" "591_677[30]" "" "Germline" "" "" "0" "" "" "g.16327675_16327677dup" "" "benign" "" "0000170257" "1" "10" "6" "16327906" "16327908" "dup" "0" "00006" "ATXN1_000004" "g.16327906_16327908dup" "" "{PMID:Zuhlke 2002:11973625}, {DOI:Zuhlke 2002:10.1038/sj.ejhg.5200788}" "" "591_677[30]" "" "Germline" "" "" "0" "" "" "g.16327675_16327677dup" "" "benign" "" "0000170258" "1" "10" "6" "16327906" "16327908" "dup" "0" "00006" "ATXN1_000004" "g.16327906_16327908dup" "" "{PMID:Zuhlke 2002:11973625}, {DOI:Zuhlke 2002:10.1038/sj.ejhg.5200788}" "" "591_677[30]" "" "Germline" "" "" "0" "" "" "g.16327675_16327677dup" "" "benign" "" "0000170259" "1" "10" "6" "16327906" "16327908" "dup" "0" "00006" "ATXN1_000004" "g.16327906_16327908dup" "" "{PMID:Zuhlke 2002:11973625}, {DOI:Zuhlke 2002:10.1038/sj.ejhg.5200788}" "" "591_677[30]" "" "Germline" "" "" "0" "" "" "g.16327675_16327677dup" "" "benign" "" "0000170260" "1" "10" "6" "16327906" "16327908" "dup" "0" "00006" "ATXN1_000004" "g.16327906_16327908dup" "" "{PMID:Zuhlke 2002:11973625}, {DOI:Zuhlke 2002:10.1038/sj.ejhg.5200788}" "" "591_677[30]" "" "Germline" "" "" "0" "" "" "g.16327675_16327677dup" "" "benign" "" "0000170261" "1" "10" "6" "16327906" "16327908" "dup" "0" "00006" "ATXN1_000004" "g.16327906_16327908dup" "" "{PMID:Zuhlke 2002:11973625}, {DOI:Zuhlke 2002:10.1038/sj.ejhg.5200788}" "" "591_677[30]" "" "Germline" "" "" "0" "" "" "g.16327675_16327677dup" "" "benign" "" "0000170262" "1" "10" "6" "16327906" "16327908" "dup" "0" "00006" "ATXN1_000004" "g.16327906_16327908dup" "" "{PMID:Zuhlke 2002:11973625}, {DOI:Zuhlke 2002:10.1038/sj.ejhg.5200788}" "" "591_677[30]" "" "Germline" "" "" "0" "" "" "g.16327675_16327677dup" "" "benign" "" "0000170263" "1" "10" "6" "16327906" "16327908" "dup" "0" "00006" "ATXN1_000004" "g.16327906_16327908dup" "" "{PMID:Zuhlke 2002:11973625}, {DOI:Zuhlke 2002:10.1038/sj.ejhg.5200788}" "" "591_677[30]" "" "Germline" "" "" "0" "" "" "g.16327675_16327677dup" "" "benign" "" "0000170264" "1" "10" "6" "16327906" "16327908" "dup" "0" "00006" "ATXN1_000004" "g.16327906_16327908dup" "" "{PMID:Zuhlke 2002:11973625}, {DOI:Zuhlke 2002:10.1038/sj.ejhg.5200788}" "" "591_677[30]" "" "Germline" "" "" "0" "" "" "g.16327675_16327677dup" "" "benign" "" "0000170265" "1" "10" "6" "16327865" "16327873" "" "0" "00006" "ATXN1_000006" "g.16327865_16327873dup;16327916_16327924dup" "" "{PMID:Zuhlke 2002:11973625}, {DOI:Zuhlke 2002:10.1038/sj.ejhg.5200788}" "" "591_677[35]" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000170266" "2" "50" "6" "16327865" "16327870" "" "0" "00006" "ATXN1_000007" "g.16327865_16327870dup;16327916_16327924dup" "" "{PMID:Zuhlke 2002:11973625}, {DOI:Zuhlke 2002:10.1038/sj.ejhg.5200788}" "" "591_677[38]" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000170267" "2" "50" "6" "16327865" "16327870" "" "0" "00006" "ATXN1_000002" "g.16327865_16327870dup;16327916_16327930dup" "" "{PMID:Zuhlke 2002:11973625}, {DOI:Zuhlke 2002:10.1038/sj.ejhg.5200788}" "" "591_677[36]" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000170268" "2" "50" "6" "16327865" "16327870" "" "0" "00006" "ATXN1_000002" "g.16327865_16327870dup;16327916_16327930dup" "" "{PMID:Zuhlke 2002:11973625}, {DOI:Zuhlke 2002:10.1038/sj.ejhg.5200788}" "" "591_677[36]" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000170269" "2" "50" "6" "16327865" "16327882" "" "0" "00006" "ATXN1_000009" "g.16327865_16327882dup;16327916_16327933dup" "" "{PMID:Zuhlke 2002:11973625}, {DOI:Zuhlke 2002:10.1038/sj.ejhg.5200788}" "" "591_677[37]" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000170270" "2" "50" "6" "16327865" "16327870" "" "0" "00006" "ATXN1_000010" "g.16327865_16327870dup;16327916_16327936dup" "" "{PMID:Zuhlke 2002:11973625}, {DOI:Zuhlke 2002:10.1038/sj.ejhg.5200788}" "" "593_677[38]" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000170271" "2" "50" "6" "16327865" "16327867" "" "0" "00006" "ATXN1_000011" "g.16327865_16327867dup;16327916_16327939dup" "" "{PMID:Zuhlke 2002:11973625}, {DOI:Zuhlke 2002:10.1038/sj.ejhg.5200788}" "" "592_677[38]" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000170272" "2" "50" "6" "16327865" "16327867" "" "0" "00006" "ATXN1_000011" "g.16327865_16327867dup;16327916_16327939dup" "" "{PMID:Zuhlke 2002:11973625}, {DOI:Zuhlke 2002:10.1038/sj.ejhg.5200788}" "" "594_677[38]" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000170273" "2" "50" "6" "16327865" "16327867" "" "0" "00006" "ATXN1_000012" "g.16327865_16327867dup;16327916_16327942dup" "" "{PMID:Zuhlke 2002:11973625}, {DOI:Zuhlke 2002:10.1038/sj.ejhg.5200788}" "" "591_677[39]" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000170274" "2" "90" "6" "16327915" "16327915" "subst" "0" "00006" "ATXN1_000008" "g.16327915A>C;16327909delins16327924_16327954" "" "{PMID:Zuhlke 2002:11973625}, {DOI:Zuhlke 2002:10.1038/sj.ejhg.5200788}" "" "592_677[39]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000170275" "2" "90" "6" "16327915" "16327915" "subst" "0" "00006" "ATXN1_000008" "g.16327915A>C;16327909delins16327924_16327954" "" "{PMID:Zuhlke 2002:11973625}, {DOI:Zuhlke 2002:10.1038/sj.ejhg.5200788}" "" "593_677[39]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000170276" "2" "90" "6" "16327915" "16327915" "subst" "0" "00006" "ATXN1_000008" "g.16327915A>C;16327909delins16327924_16327954" "" "{PMID:Zuhlke 2002:11973625}, {DOI:Zuhlke 2002:10.1038/sj.ejhg.5200788}" "" "594_677[39]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000170277" "2" "90" "6" "16327915" "16327915" "subst" "0" "00006" "ATXN1_000008" "g.16327915A>C;16327909delins16327924_16327954" "" "{PMID:Zuhlke 2002:11973625}, {DOI:Zuhlke 2002:10.1038/sj.ejhg.5200788}" "" "595_677[39]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000170278" "2" "90" "6" "16327915" "16327915" "subst" "0" "00006" "ATXN1_000003" "g.16327915A>C;16327909delins16327918_16327954" "" "{PMID:Zuhlke 2002:11973625}, {DOI:Zuhlke 2002:10.1038/sj.ejhg.5200788}" "" "591_677[41]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000170279" "2" "90" "6" "16327915" "16327915" "subst" "0" "00006" "ATXN1_000003" "g.16327915A>C;16327909delins16327918_16327954" "" "{PMID:Zuhlke 2002:11973625}, {DOI:Zuhlke 2002:10.1038/sj.ejhg.5200788}" "" "592_677[41]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000170280" "2" "90" "6" "16327915" "16327915" "subst" "0" "00006" "ATXN1_000013" "g.16327915A>C;16327909delins[16327867_16327906;TGC]" "" "{PMID:Zuhlke 2002:11973625}, {DOI:Zuhlke 2002:10.1038/sj.ejhg.5200788}" "" "591_677[43]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000248566" "0" "10" "6" "16327615" "16327615" "subst" "0.730138" "02325" "ATXN1_000017" "g.16327615A>G" "" "" "" "ATXN1(NM_000332.4):c.927T>C (p.A309=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16327384A>G" "" "benign" "" "0000259204" "0" "10" "6" "16306751" "16306751" "subst" "0.195486" "02325" "ATXN1_000014" "g.16306751G>A" "" "" "" "ATXN1(NM_000332.4):c.2257C>T (p.P753S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16306520G>A" "" "benign" "" "0000261310" "0" "30" "6" "16306858" "16306858" "subst" "0.00265653" "02326" "ATXN1_000015" "g.16306858G>A" "" "" "" "ATXN1(NM_000332.3):c.2150C>T (p.A717V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16306627G>A" "" "likely benign" "" "0000261311" "0" "30" "6" "16328154" "16328154" "subst" "6.99249E-5" "02326" "ATXN1_000033" "g.16328154T>G" "" "" "" "ATXN1(NM_000332.3):c.388A>C (p.I130L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16327923T>G" "" "likely benign" "" "0000261312" "0" "30" "6" "16327986" "16327986" "subst" "0.00329548" "02326" "ATXN1_000032" "g.16327986T>A" "" "" "" "ATXN1(NM_000332.3):c.556A>T (p.S186C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16327755T>A" "" "likely benign" "" "0000261315" "0" "50" "6" "16327823" "16327823" "subst" "9.56984E-6" "02326" "ATXN1_000018" "g.16327823G>A" "" "" "" "ATXN1(NM_000332.3):c.719C>T (p.P240L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16327592G>A" "" "VUS" "" "0000263432" "0" "30" "6" "16327060" "16327060" "subst" "2.4691E-5" "01943" "ATXN1_000016" "g.16327060G>A" "" "" "" "ATXN1(NM_000332.3):c.1482C>T (p.V494=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16326829G>A" "" "likely benign" "" "0000263433" "0" "30" "6" "16306858" "16306858" "subst" "0.00265653" "01943" "ATXN1_000015" "g.16306858G>A" "" "" "" "ATXN1(NM_000332.3):c.2150C>T (p.A717V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16306627G>A" "" "likely benign" "" "0000263434" "0" "30" "6" "16327933" "16327933" "subst" "0" "01943" "ATXN1_000031" "g.16327933C>A" "" "" "" "ATXN1(NM_000332.3):c.609G>T (p.Q203H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16327702C>A" "" "likely benign" "" "0000263435" "0" "10" "6" "16327915" "16327920" "del" "0" "01943" "ATXN1_000029" "g.16327915_16327920del" "" "" "" "ATXN1(NM_000332.3):c.633_638delTCAGCA (p.H211_Q212del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16327684_16327689del" "" "benign" "" "0000263437" "0" "30" "6" "16327900" "16327900" "subst" "0" "01943" "ATXN1_000026" "g.16327900C>A" "" "" "" "ATXN1(NM_000332.3):c.642G>T (p.Q214H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16327669C>A" "" "likely benign" "" "0000263438" "0" "10" "6" "16327894" "16327894" "subst" "0" "01943" "ATXN1_000025" "g.16327894C>A" "" "" "" "ATXN1(NM_000332.3):c.648G>T (p.Q216H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16327663C>A" "" "benign" "" "0000263439" "0" "10" "6" "16327891" "16327891" "subst" "0" "01943" "ATXN1_000024" "g.16327891C>A" "" "" "" "ATXN1(NM_000332.3):c.651G>T (p.Q217H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16327660C>A" "" "benign" "" "0000263440" "0" "30" "6" "16327888" "16327888" "subst" "0" "01943" "ATXN1_000023" "g.16327888C>A" "" "" "" "ATXN1(NM_000332.3):c.654G>T (p.Q218H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16327657C>A" "" "likely benign" "" "0000527942" "0" "30" "6" "16326847" "16326847" "subst" "0.00421363" "01943" "ATXN1_000034" "g.16326847C>T" "" "" "" "ATXN1(NM_000332.3):c.1695G>A (p.A565=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16326616C>T" "" "likely benign" "" "0000527943" "0" "50" "6" "16326975" "16326975" "subst" "4.07063E-6" "01943" "ATXN1_000035" "g.16326975C>T" "" "" "" "ATXN1(NM_000332.3):c.1567G>A (p.V523I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16326744C>T" "" "VUS" "" "0000527944" "0" "30" "6" "16327039" "16327039" "subst" "0.000131876" "01943" "ATXN1_000036" "g.16327039C>T" "" "" "" "ATXN1(NM_000332.3):c.1503G>A (p.A501=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16326808C>T" "" "likely benign" "" "0000527945" "0" "10" "6" "16327335" "16327335" "subst" "0.000692058" "01943" "ATXN1_000037" "g.16327335G>A" "" "" "" "ATXN1(NM_000332.3):c.1207C>T (p.R403C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16327104G>A" "" "benign" "" "0000527946" "0" "30" "6" "16327687" "16327687" "subst" "0.000281318" "01943" "ATXN1_000038" "g.16327687G>A" "" "" "" "ATXN1(NM_000332.3):c.855C>T (p.P285=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16327456G>A" "" "likely benign" "" "0000527948" "0" "30" "6" "16327903" "16327908" "del" "0" "01943" "ATXN1_000040" "g.16327903_16327908del" "" "" "" "ATXN1(NM_000332.3):c.672_677del (p.(Gln224_Gln225del)), ATXN1(NM_000332.3):c.672_677delGCAGCA (p.Q224_Q225del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16327672_16327677del" "" "likely benign" "" "0000527949" "0" "30" "6" "16327903" "16327908" "del" "0" "01804" "ATXN1_000040" "g.16327903_16327908del" "" "" "" "ATXN1(NM_000332.3):c.672_677del (p.(Gln224_Gln225del)), ATXN1(NM_000332.3):c.672_677delGCAGCA (p.Q224_Q225del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16327672_16327677del" "" "likely benign" "" "0000527951" "0" "10" "6" "16327903" "16327908" "dup" "0" "01943" "ATXN1_000041" "g.16327903_16327908dup" "" "" "" "ATXN1(NM_000332.3):c.672_677dupGCAGCA (p.Q224_Q225dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16327672_16327677dup" "" "benign" "" "0000527952" "0" "10" "6" "16327903" "16327908" "dup" "0" "02326" "ATXN1_000041" "g.16327903_16327908dup" "" "" "" "ATXN1(NM_000332.3):c.672_677dupGCAGCA (p.Q224_Q225dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16327672_16327677dup" "" "benign" "" "0000527954" "0" "10" "6" "16327905" "16327906" "ins" "0" "02326" "ATXN1_000042" "g.16327905_16327906insATG" "" "" "" "ATXN1(NM_000332.3):c.638_639insTCA (p.Q212_Q213insH)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16327674_16327675insATG" "" "benign" "" "0000527956" "0" "10" "6" "16327906" "16327908" "del" "0" "01943" "ATXN1_000043" "g.16327906_16327908del" "" "" "" "ATXN1(NM_000332.3):c.675_677delGCA (p.Q225del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16327675_16327677del" "" "benign" "" "0000527958" "0" "30" "6" "16327906" "16327908" "dup" "0" "01943" "ATXN1_000004" "g.16327906_16327908dup" "" "" "" "ATXN1(NM_000332.3):c.672_674dup (p.(Gln225dup)), ATXN1(NM_000332.3):c.675_677dupGCA (p.Q225dup), ATXN1(NM_000332.4):c.675_677dupGCA (p.Q225dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16327675_16327677dup" "" "likely benign" "" "0000527959" "0" "30" "6" "16327906" "16327908" "dup" "0" "02326" "ATXN1_000004" "g.16327906_16327908dup" "" "" "" "ATXN1(NM_000332.3):c.672_674dup (p.(Gln225dup)), ATXN1(NM_000332.3):c.675_677dupGCA (p.Q225dup), ATXN1(NM_000332.4):c.675_677dupGCA (p.Q225dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16327675_16327677dup" "" "likely benign" "" "0000527960" "0" "10" "6" "16327906" "16327908" "dup" "0" "02325" "ATXN1_000004" "g.16327906_16327908dup" "" "" "" "ATXN1(NM_000332.3):c.672_674dup (p.(Gln225dup)), ATXN1(NM_000332.3):c.675_677dupGCA (p.Q225dup), ATXN1(NM_000332.4):c.675_677dupGCA (p.Q225dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16327675_16327677dup" "" "benign" "" "0000527961" "0" "30" "6" "16327908" "16327909" "ins" "0" "01943" "ATXN1_000044" "g.16327908_16327909insCTGCTGATGCTG" "" "" "" "ATXN1(NM_000332.3):c.638_639insTCAGCAGCAGCA (p.Q212_Q213insHQQQ)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16327677_16327678insCTGCTGATGCTG" "" "likely benign" "" "0000527962" "0" "30" "6" "16327912" "16327914" "dup" "0" "01943" "ATXN1_000045" "g.16327912_16327914dup" "" "" "" "ATXN1(NM_000332.3):c.630_632dupGCA (p.Q210dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16327681_16327683dup" "" "likely benign" "" "0000527963" "0" "10" "6" "16327915" "16327915" "subst" "0" "01943" "ATXN1_000046" "g.16327915A>C" "" "" "" "ATXN1(NM_000332.3):c.624_627delGCATinsGCAG (p.H209Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16327684A>C" "" "benign" "" "0000527964" "0" "30" "6" "16327927" "16327927" "subst" "0" "01943" "ATXN1_000047" "g.16327927C>A" "" "" "" "ATXN1(NM_000332.3):c.615G>T (p.Q205H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16327696C>A" "" "likely benign" "" "0000527966" "0" "30" "6" "16327950" "16327955" "dup" "0" "01943" "ATXN1_000048" "g.16327950_16327955dup" "" "" "" "ATXN1(NM_000332.3):c.615_620dupGCAGCA (p.Q207_Q208dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16327719_16327724dup" "" "likely benign" "" "0000527968" "0" "10" "6" "16327953" "16327955" "dup" "0" "01943" "ATXN1_000001" "g.16327953_16327955dup" "" "" "" "ATXN1(NM_000332.3):c.624_626dupGCA (p.Q208dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16327722_16327724dup" "" "benign" "" "0000527969" "0" "30" "6" "16327986" "16327986" "subst" "0.00329548" "01943" "ATXN1_000032" "g.16327986T>A" "" "" "" "ATXN1(NM_000332.3):c.556A>T (p.S186C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16327755T>A" "" "likely benign" "" "0000527970" "0" "30" "6" "16328215" "16328215" "subst" "0.00189823" "01943" "ATXN1_000049" "g.16328215C>T" "" "" "" "ATXN1(NM_000332.3):c.327G>A (p.P109=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16327984C>T" "" "likely benign" "" "0000527971" "0" "30" "6" "16328268" "16328268" "subst" "7.74404E-5" "01943" "ATXN1_000050" "g.16328268C>T" "" "" "" "ATXN1(NM_000332.3):c.274G>A (p.A92T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16328037C>T" "" "likely benign" "" "0000527972" "0" "30" "6" "16328275" "16328275" "subst" "0.00125164" "01943" "ATXN1_000051" "g.16328275C>A" "" "" "" "ATXN1(NM_000332.3):c.267G>T (p.P89=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16328044C>A" "" "likely benign" "" "0000610219" "0" "30" "6" "16327906" "16327908" "dup" "0" "01804" "ATXN1_000004" "g.16327906_16327908dup" "" "" "" "ATXN1(NM_000332.3):c.672_674dup (p.(Gln225dup)), ATXN1(NM_000332.3):c.675_677dupGCA (p.Q225dup), ATXN1(NM_000332.4):c.675_677dupGCA (p.Q225dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16327675_16327677dup" "" "likely benign" "" "0000621674" "0" "50" "6" "16326671" "16326671" "subst" "0.000231534" "01943" "ATXN1_000052" "g.16326671G>A" "" "" "" "ATXN1(NM_000332.3):c.1871C>T (p.P624L), ATXN1(NM_001128164.1):c.1871C>T (p.(Pro624Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16326440G>A" "" "VUS" "" "0000621675" "0" "50" "6" "16327770" "16327770" "subst" "0.00181285" "01943" "ATXN1_000053" "g.16327770C>A" "" "" "" "ATXN1(NM_000332.3):c.772G>T (p.G258C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16327539C>A" "" "VUS" "" "0000655535" "0" "50" "6" "16328491" "16328491" "subst" "0.000344578" "01943" "ATXN1_000054" "g.16328491G>A" "" "" "" "ATXN1(NM_001357857.1):c.22C>T (p.R8*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16328260G>A" "" "VUS" "" "0000689682" "0" "50" "6" "16327237" "16327237" "subst" "0" "01943" "ATXN1_000055" "g.16327237C>A" "" "" "" "ATXN1(NM_000332.3):c.1305G>T (p.Q435H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000689683" "0" "30" "6" "16327953" "16327955" "dup" "0" "02326" "ATXN1_000001" "g.16327953_16327955dup" "" "" "" "ATXN1(NM_000332.3):c.624_626dupGCA (p.Q208dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802442" "0" "30" "6" "16327414" "16327414" "subst" "0.000101681" "01943" "ATXN1_000056" "g.16327414C>T" "" "" "" "ATXN1(NM_000332.3):c.1128G>A (p.S376=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802443" "0" "30" "6" "16327939" "16327939" "subst" "0" "01943" "ATXN1_000057" "g.16327939C>A" "" "" "" "ATXN1(NM_000332.3):c.603G>T (p.Q201H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851137" "0" "50" "6" "16327835" "16327835" "subst" "0" "01943" "ATXN1_000059" "g.16327835G>A" "" "" "" "ATXN1(NM_000332.3):c.707C>T (p.P236L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000860247" "0" "30" "6" "16327660" "16327660" "subst" "0.000289119" "01943" "ATXN1_000058" "g.16327660G>A" "" "" "" "ATXN1(NM_000332.3):c.882C>T (p.A294=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860248" "0" "30" "6" "16327896" "16327897" "ins" "0" "01943" "ATXN1_000060" "g.16327896_16327897insATG" "" "" "" "ATXN1(NM_000332.3):c.647_648insTCA (p.Q215_Q216insH)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860249" "0" "50" "6" "16327897" "16327908" "del" "0" "01943" "ATXN1_000061" "g.16327897_16327908del" "" "" "" "ATXN1(NM_000332.3):c.666_677delGCAGCAGCAGCA (p.Q222_Q225del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000860250" "0" "50" "6" "16327944" "16327955" "dup" "0" "01943" "ATXN1_000062" "g.16327944_16327955dup" "" "" "" "ATXN1(NM_000332.3):c.615_626dupGCAGCAGCAGCA (p.Q205_Q208dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000860251" "0" "30" "6" "16328080" "16328080" "subst" "0.000307695" "01943" "ATXN1_000063" "g.16328080G>A" "" "" "" "ATXN1(NM_000332.3):c.462C>T (p.P154=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000952368" "3" "50" "6" "16327950" "16327955" "dup" "0" "00006" "ATXN1_000048" "g.16327950_16327955dup" "" "{PMID:Chatron 2020:32282878}" "" "ENST00000436367:c.626_627insGCAGCA" "" "Germline" "" "" "0" "" "" "g.16327719_16327724dup" "" "VUS" "" "0000963919" "0" "10" "6" "16327896" "16327897" "ins" "0" "02329" "ATXN1_000060" "g.16327896_16327897insATG" "" "" "" "ATXN1(NM_000332.3):c.647_648insTCA (p.Q215_Q216insH)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000963926" "0" "10" "6" "16327947" "16327955" "dup" "0" "02329" "ATXN1_000065" "g.16327947_16327955dup" "" "" "" "ATXN1(NM_000332.3):c.618_626dupGCAGCAGCA (p.Q206_Q208dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000977078" "0" "50" "6" "16327897" "16327908" "dup" "0" "01804" "ATXN1_000066" "g.16327897_16327908dup" "" "" "" "ATXN1(NM_001128164.2):c.666_677dup (p.(Gln222_Gln225dup))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977079" "0" "30" "6" "16327909" "16327911" "del" "0" "01804" "ATXN1_000064" "g.16327909_16327911del" "" "" "" "ATXN1(NM_001128164.2):c.633_635del (p.(His211del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977080" "0" "30" "6" "16327909" "16327923" "del" "0" "01804" "ATXN1_000067" "g.16327909_16327923del" "" "" "" "ATXN1(NM_001128164.2):c.627_641del (p.(His209_Gln213del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977081" "0" "30" "6" "16327920" "16327921" "ins" "0" "01804" "ATXN1_000068" "g.16327920_16327921insATG" "" "" "" "ATXN1(NM_001128164.2):c.623_624insTCA (p.(Gln207_Gln208insHis))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977082" "0" "30" "6" "16327930" "16327930" "subst" "0" "01804" "ATXN1_000069" "g.16327930C>A" "" "" "" "ATXN1(NM_001128164.2):c.612G>T (p.(Gln204His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977083" "0" "30" "6" "16327947" "16327955" "del" "0" "01804" "ATXN1_000070" "g.16327947_16327955del" "" "" "" "ATXN1(NM_001128164.2):c.618_626del (p.(Gln206_Gln208del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977084" "0" "30" "6" "16328089" "16328089" "subst" "0.000262126" "01804" "ATXN1_000071" "g.16328089G>A" "" "" "" "ATXN1(NM_001357857.2):c.424C>T (p.(Arg142Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995544" "0" "50" "6" "16326671" "16326671" "subst" "0.000231534" "01804" "ATXN1_000052" "g.16326671G>A" "" "" "" "ATXN1(NM_000332.3):c.1871C>T (p.P624L), ATXN1(NM_001128164.1):c.1871C>T (p.(Pro624Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995545" "0" "30" "6" "16327262" "16327262" "subst" "5.28039E-5" "01804" "ATXN1_000072" "g.16327262G>A" "" "" "" "ATXN1(NM_001128164.1):c.1280C>T (p.(Ala427Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes ATXN1 ## Count = 96 "{{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}}" "{{VariantOnTranscript/Haplotype}}" "0000170249" "00003159" "30" "624" "0" "626" "0" "c.624_626dup" "r.(?)" "p.(Gln208dup)" "8" "TRN[30] 13-1-14" "0000170250" "00003159" "50" "612" "0" "626" "0" "c.612_626dup;672_677dup" "r.(?)" "p.(Gln204_Gln208dup;Gln224_Gln225dup)" "8" "TRN[36] 17-1-16" "0000170251" "00003159" "30" "624" "0" "626" "0" "c.624_626del" "r.(?)" "p.(Gln208_Gln210del)" "8" "TRN[26] 11-TCA-14" "0000170252" "00003159" "30" "591" "0" "677" "0" "c.591_677=" "r.(?)" "p.(=)" "8" "TRN[29] 12-1-14" "0000170253" "00003159" "30" "675" "0" "677" "0" "c.675_677dup" "r.(?)" "p.(Gln225dup)" "8" "TRN[30] 12-1-15" "0000170254" "00003159" "30" "675" "0" "677" "0" "c.675_677dup" "r.(?)" "p.(Gln225dup)" "8" "TRN[30] 12-1-15" "0000170255" "00003159" "30" "675" "0" "677" "0" "c.675_677dup" "r.(?)" "p.(Gln225dup)" "8" "TRN[30] 12-1-15" "0000170256" "00003159" "30" "675" "0" "677" "0" "c.675_677dup" "r.(?)" "p.(Gln225dup)" "8" "TRN[30] 12-1-15" "0000170257" "00003159" "30" "675" "0" "677" "0" "c.675_677dup" "r.(?)" "p.(Gln225dup)" "8" "TRN[30] 12-1-15" "0000170258" "00003159" "30" "675" "0" "677" "0" "c.675_677dup" "r.(?)" "p.(Gln225dup)" "8" "TRN[30] 12-1-15" "0000170259" "00003159" "30" "675" "0" "677" "0" "c.675_677dup" "r.(?)" "p.(Gln225dup)" "8" "TRN[30] 12-1-15" "0000170260" "00003159" "30" "675" "0" "677" "0" "c.675_677dup" "r.(?)" "p.(Gln225dup)" "8" "TRN[30] 12-1-15" "0000170261" "00003159" "30" "675" "0" "677" "0" "c.675_677dup" "r.(?)" "p.(Gln225dup)" "8" "TRN[30] 12-1-15" "0000170262" "00003159" "30" "675" "0" "677" "0" "c.675_677dup" "r.(?)" "p.(Gln225dup)" "8" "TRN[30] 12-1-15" "0000170263" "00003159" "30" "675" "0" "677" "0" "c.675_677dup" "r.(?)" "p.(Gln225dup)" "8" "TRN[30] 12-1-15" "0000170264" "00003159" "30" "675" "0" "677" "0" "c.675_677dup" "r.(?)" "p.(Gln225dup)" "8" "TRN[30] 12-1-15" "0000170265" "00003159" "30" "618" "0" "626" "0" "c.618_626dup;669_677dup" "r.(?)" "p.(Gln206_Gln208dup;Gln223_Gln225dup)" "8" "TRN[35] 15-1-17" "0000170266" "00003159" "30" "618" "0" "626" "0" "c.618_626dup;672_677dup" "r.(?)" "p.(Gln[15]HisGlnHis[1]Gln[20])" "8" "TRN[38] 15-1-20" "0000170267" "00003159" "30" "612" "0" "626" "0" "c.612_626dup;672_677dup" "r.(?)" "p.(Gln204_Gln208dup;Gln224_Gln225dup)" "8" "TRN[36] 17-1-16" "0000170268" "00003159" "30" "612" "0" "626" "0" "c.612_626dup;672_677dup" "r.(?)" "p.(Gln204_Gln208dup;Gln224_Gln225dup)" "8" "TRN[36] 17-1-16" "0000170269" "00003159" "30" "609" "0" "626" "0" "c.609_626dup;660_677dup" "r.(?)" "p.(Gln203_Gln208dup;Gln224_Gln225dup)" "8" "TRN[37] 18-1-16" "0000170270" "00003159" "30" "606" "0" "626" "0" "c.606_626dup;672_677dup" "r.(?)" "p.(Gln202_Gln208dup;Gln224_Gln225dup)" "8" "TRN[38] 19-1-16" "0000170271" "00003159" "30" "603" "0" "626" "0" "c.603_626dup;675_677dup" "r.(?)" "p.(Gln201_Gln208dup;Gln225dup)" "8" "TRN[38] 20-1-15" "0000170272" "00003159" "30" "603" "0" "626" "0" "c.603_626dup;675_677dup" "r.(?)" "p.(Gln201_Gln208dup;Gln225dup)" "8" "TRN[38] 20-1-15" "0000170273" "00003159" "30" "600" "0" "626" "0" "c.600_626dup;675_677dup" "r.(?)" "p.(Gln200_Gln208dup;Gln225dup)" "8" "TRN[38] 21-1-15" "0000170274" "00003159" "30" "627" "0" "627" "0" "c.627T>G;633delins588_618" "r.(?)" "p.(His209Gln;His211delinsGln198_Gln208)" "8" "TRN[39] 39" "0000170275" "00003159" "30" "627" "0" "627" "0" "c.627T>G;633delins588_618" "r.(?)" "p.(His209Gln;His211delinsGln198_Gln208)" "8" "TRN[39] 39" "0000170276" "00003159" "30" "627" "0" "627" "0" "c.627T>G;633delins588_618" "r.(?)" "p.(His209Gln;His211delinsGln198_Gln208)" "8" "TRN[39] 39" "0000170277" "00003159" "30" "627" "0" "627" "0" "c.627T>G;633delins588_618" "r.(?)" "p.(His209Gln;His211delinsGln198_Gln208)" "8" "TRN[39] 39" "0000170278" "00003159" "30" "627" "0" "627" "0" "c.627T>G;633delins588_624" "r.(?)" "p.(His209Gln;His211delinsGln213_Gln225)" "8" "TRN[41] 41" "0000170279" "00003159" "30" "627" "0" "627" "0" "c.627T>G;633delins588_624" "r.(?)" "p.(His209Gln;His211delinsGln213_Gln225)" "8" "TRN[41] 41" "0000170280" "00003159" "30" "627" "0" "627" "0" "c.627T>G;633delins[636_675;GCA]" "r.(?)" "p.(His209Gln;His211delinsGln[15])" "8" "TRN[43] 43" "0000248566" "00003159" "10" "927" "0" "927" "0" "c.927T>C" "r.(?)" "p.(Ala309=)" "" "" "0000259204" "00003159" "10" "2257" "0" "2257" "0" "c.2257C>T" "r.(?)" "p.(Pro753Ser)" "" "" "0000261310" "00003159" "30" "2150" "0" "2150" "0" "c.2150C>T" "r.(?)" "p.(Ala717Val)" "" "" "0000261311" "00003159" "30" "388" "0" "388" "0" "c.388A>C" "r.(?)" "p.(Ile130Leu)" "" "" "0000261312" "00003159" "30" "556" "0" "556" "0" "c.556A>T" "r.(?)" "p.(Ser186Cys)" "" "" "0000261315" "00003159" "50" "719" "0" "719" "0" "c.719C>T" "r.(?)" "p.(Pro240Leu)" "" "" "0000263432" "00003159" "30" "1482" "0" "1482" "0" "c.1482C>T" "r.(?)" "p.(Val494=)" "" "" "0000263433" "00003159" "30" "2150" "0" "2150" "0" "c.2150C>T" "r.(?)" "p.(Ala717Val)" "" "" "0000263434" "00003159" "30" "609" "0" "609" "0" "c.609G>T" "r.(?)" "p.(Gln203His)" "" "" "0000263435" "00003159" "10" "633" "0" "638" "0" "c.633_638del" "r.(?)" "p.(His211_Gln212del)" "" "" "0000263437" "00003159" "30" "642" "0" "642" "0" "c.642G>T" "r.(?)" "p.(Gln214His)" "" "" "0000263438" "00003159" "10" "648" "0" "648" "0" "c.648G>T" "r.(?)" "p.(Gln216His)" "" "" "0000263439" "00003159" "10" "651" "0" "651" "0" "c.651G>T" "r.(?)" "p.(Gln217His)" "" "" "0000263440" "00003159" "30" "654" "0" "654" "0" "c.654G>T" "r.(?)" "p.(Gln218His)" "" "" "0000527942" "00003159" "30" "1695" "0" "1695" "0" "c.1695G>A" "r.(?)" "p.(Ala565=)" "" "" "0000527943" "00003159" "50" "1567" "0" "1567" "0" "c.1567G>A" "r.(?)" "p.(Val523Ile)" "" "" "0000527944" "00003159" "30" "1503" "0" "1503" "0" "c.1503G>A" "r.(?)" "p.(Ala501=)" "" "" "0000527945" "00003159" "10" "1207" "0" "1207" "0" "c.1207C>T" "r.(?)" "p.(Arg403Cys)" "" "" "0000527946" "00003159" "30" "855" "0" "855" "0" "c.855C>T" "r.(?)" "p.(Pro285=)" "" "" "0000527948" "00003159" "30" "672" "0" "677" "0" "c.672_677del" "r.(?)" "p.(Gln224_Gln225del)" "" "" "0000527949" "00003159" "30" "672" "0" "677" "0" "c.672_677del" "r.(?)" "p.(Gln224_Gln225del)" "" "" "0000527951" "00003159" "10" "672" "0" "677" "0" "c.672_677dup" "r.(?)" "p.(Gln224_Gln225dup)" "" "" "0000527952" "00003159" "10" "672" "0" "677" "0" "c.672_677dup" "r.(?)" "p.(Gln224_Gln225dup)" "" "" "0000527954" "00003159" "10" "638" "0" "639" "0" "c.638_639insTCA" "r.(?)" "p.(Gln212_Gln213insHis)" "" "" "0000527956" "00003159" "10" "675" "0" "677" "0" "c.675_677del" "r.(?)" "p.(Gln225del)" "" "" "0000527958" "00003159" "30" "675" "0" "677" "0" "c.675_677dup" "r.(?)" "p.(Gln225dup)" "" "" "0000527959" "00003159" "30" "675" "0" "677" "0" "c.675_677dup" "r.(?)" "p.(Gln225dup)" "" "" "0000527960" "00003159" "10" "675" "0" "677" "0" "c.675_677dup" "r.(?)" "p.(Gln225dup)" "" "" "0000527961" "00003159" "30" "638" "0" "639" "0" "c.638_639insTCAGCAGCAGCA" "r.(?)" "p.(Gln212_Gln213insHisGlnGlnGln)" "" "" "0000527962" "00003159" "30" "630" "0" "632" "0" "c.630_632dup" "r.(?)" "p.(Gln210dup)" "" "" "0000527963" "00003159" "10" "627" "0" "627" "0" "c.627T>G" "r.(?)" "p.(His209Gln)" "" "" "0000527964" "00003159" "30" "615" "0" "615" "0" "c.615G>T" "r.(?)" "p.(Gln205His)" "" "" "0000527966" "00003159" "30" "621" "0" "626" "0" "c.621_626dup" "r.(?)" "p.(Gln207_Gln208dup)" "" "" "0000527968" "00003159" "10" "624" "0" "626" "0" "c.624_626dup" "r.(?)" "p.(Gln208dup)" "" "" "0000527969" "00003159" "30" "556" "0" "556" "0" "c.556A>T" "r.(?)" "p.(Ser186Cys)" "" "" "0000527970" "00003159" "30" "327" "0" "327" "0" "c.327G>A" "r.(?)" "p.(Pro109=)" "" "" "0000527971" "00003159" "30" "274" "0" "274" "0" "c.274G>A" "r.(?)" "p.(Ala92Thr)" "" "" "0000527972" "00003159" "30" "267" "0" "267" "0" "c.267G>T" "r.(?)" "p.(Pro89=)" "" "" "0000610219" "00003159" "30" "675" "0" "677" "0" "c.675_677dup" "r.(?)" "p.(Gln225dup)" "" "" "0000621674" "00003159" "50" "1871" "0" "1871" "0" "c.1871C>T" "r.(?)" "p.(Pro624Leu)" "" "" "0000621675" "00003159" "50" "772" "0" "772" "0" "c.772G>T" "r.(?)" "p.(Gly258Cys)" "" "" "0000655535" "00003159" "50" "51" "0" "51" "0" "c.51C>T" "r.(?)" "p.(Arg17=)" "" "" "0000689682" "00003159" "50" "1305" "0" "1305" "0" "c.1305G>T" "r.(?)" "p.(Gln435His)" "" "" "0000689683" "00003159" "30" "624" "0" "626" "0" "c.624_626dup" "r.(?)" "p.(Gln208dup)" "" "" "0000802442" "00003159" "30" "1128" "0" "1128" "0" "c.1128G>A" "r.(?)" "p.(Ser376=)" "" "" "0000802443" "00003159" "30" "603" "0" "603" "0" "c.603G>T" "r.(?)" "p.(Gln201His)" "" "" "0000851137" "00003159" "50" "707" "0" "707" "0" "c.707C>T" "r.(?)" "p.(Pro236Leu)" "" "" "0000860247" "00003159" "30" "882" "0" "882" "0" "c.882C>T" "r.(?)" "p.(Ala294=)" "" "" "0000860248" "00003159" "30" "647" "0" "648" "0" "c.647_648insTCA" "r.(?)" "p.(Gln215_Gln216insHis)" "" "" "0000860249" "00003159" "50" "666" "0" "677" "0" "c.666_677del" "r.(?)" "p.(Gln222_Gln225del)" "" "" "0000860250" "00003159" "50" "615" "0" "626" "0" "c.615_626dup" "r.(?)" "p.(Gln205_Gln208dup)" "" "" "0000860251" "00003159" "30" "462" "0" "462" "0" "c.462C>T" "r.(?)" "p.(Pro154=)" "" "" "0000952368" "00003159" "50" "587" "0" "592" "0" "c.587_592dup" "r.(?)" "p.(Gln207_Gln208dup)" "" "" "0000963919" "00003159" "10" "647" "0" "648" "0" "c.647_648insTCA" "r.(?)" "p.(Gln215_Gln216insHis)" "" "" "0000963926" "00003159" "10" "618" "0" "626" "0" "c.618_626dup" "r.(?)" "p.(Gln206_Gln208dup)" "" "" "0000977078" "00003159" "50" "666" "0" "677" "0" "c.666_677dup" "r.(?)" "p.(Gln222_Gln225dup)" "" "" "0000977079" "00003159" "30" "633" "0" "635" "0" "c.633_635del" "r.(?)" "p.(His211del)" "" "" "0000977080" "00003159" "30" "627" "0" "641" "0" "c.627_641del" "r.(?)" "p.(His209_Gln213del)" "" "" "0000977081" "00003159" "30" "623" "0" "624" "0" "c.623_624insTCA" "r.(?)" "p.(Gln207_Gln208insHis)" "" "" "0000977082" "00003159" "30" "612" "0" "612" "0" "c.612G>T" "r.(?)" "p.(Gln204His)" "" "" "0000977083" "00003159" "30" "618" "0" "626" "0" "c.618_626del" "r.(?)" "p.(Gln206_Gln208del)" "" "" "0000977084" "00003159" "30" "453" "0" "453" "0" "c.453C>T" "r.(?)" "p.(=)" "" "" "0000995544" "00003159" "50" "1871" "0" "1871" "0" "c.1871C>T" "r.(?)" "p.(Pro624Leu)" "" "" "0000995545" "00003159" "30" "1280" "0" "1280" "0" "c.1280C>T" "r.(?)" "p.(Ala427Val)" "" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 33 "{{screeningid}}" "{{variantid}}" "0000105020" "0000170249" "0000105020" "0000170250" "0000105021" "0000170253" "0000105021" "0000170267" "0000105022" "0000170254" "0000105022" "0000170268" "0000105023" "0000170255" "0000105023" "0000170269" "0000105024" "0000170256" "0000105024" "0000170266" "0000105025" "0000170257" "0000105025" "0000170271" "0000105026" "0000170258" "0000105026" "0000170270" "0000105027" "0000170265" "0000105027" "0000170272" "0000105028" "0000170252" "0000105028" "0000170273" "0000105029" "0000170259" "0000105029" "0000170274" "0000105030" "0000170260" "0000105030" "0000170275" "0000105031" "0000170261" "0000105031" "0000170276" "0000105032" "0000170262" "0000105032" "0000170277" "0000105033" "0000170251" "0000105033" "0000170280" "0000105034" "0000170263" "0000105034" "0000170278" "0000105035" "0000170264" "0000105035" "0000170279" "0000445378" "0000952368"