### LOVD-version 3000-290 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ATXN7) # 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}}" "ATXN7" "ataxin 7" "3" "p21.1-p12" "unknown" "NG_008227.1" "UD_132119100311" "" "https://www.LOVD.nl/ATXN7" "" "1" "10560" "6314" "607640" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/ATXN7_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2018-01-05 12:11:58" "00000" "2023-01-11 15:44:22" ## 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}}" "00003165" "ATXN7" "transcript variant SCA7a" "001" "NM_000333.3" "" "NP_000324.1" "" "" "" "-553" "6674" "2679" "63850233" "63989138" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "01475" "SCA7" "ataxia, spinocerebellar, type 7 (SCA-7)" "AD" "164500" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04167" "SCA" "ataxia, spinocerebellar (SCA)" "" "" "" "" "" "00006" "2014-12-24 11:54:32" "00006" "2015-12-08 23:59:30" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "05356" "ataxia" "ataxia" "" "" "" "" "" "00006" "2017-12-21 19:14:03" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "ATXN7" "01475" ## Individuals ## Do not remove or alter this header ## ## Count = 31 "{{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}}" "00148524" "" "" "" "1" "" "00006" "{PMID:Giunti 1999:10330346}" "3-generation family, 1 affected" "?" "" "France" "" "0" "" "" "" "10330346-FamVNPatiii2" "00148525" "" "" "" "3" "" "00006" "{PMID:Giunti 1999:10330346}" "2-generation family, 3 affecteds" "" "" "France" "" "0" "" "" "" "10330346-FamWIPatII1" "00148526" "" "" "" "2" "" "00006" "{PMID:Giunti 1999:10330346}" "3-generation family, affected mother/child" "" "" "France" "" "0" "" "" "" "10330346-FamPTPatIII1" "00234051" "" "" "" "20" "" "00006" "{PMID:Del-Favero 1998:9425224}" "4-generation family, 20 affected (10F, 10M)" "F;M" "no" "Belgium" "" "0" "" "" "" "FamCA-1Pat33" "00249734" "" "" "" "1" "" "00006" "{PMID:Rafehi 2019:31230722}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "Anglo-Saxon" "CANVAS11" "00262133" "" "" "" "1" "" "00006" "{PMID:David 1997:9288099}" "analysis 29 controls" "F;M" "" "" "" "0" "" "" "France" "control" "00262134" "" "" "" "45" "" "00006" "{PMID:David 1997:9288099}" "analysis 29 controls" "F;M" "" "" "" "0" "" "" "France" "control" "00262135" "" "" "" "4" "" "00006" "{PMID:David 1997:9288099}" "analysis 29 controls" "F;M" "" "" "" "0" "" "" "France" "control" "00262136" "" "" "" "4" "" "00006" "{PMID:David 1997:9288099}" "analysis 29 controls" "F;M" "" "" "" "0" "" "" "France" "control" "00262137" "" "" "" "3" "" "00006" "{PMID:David 1997:9288099}" "analysis 29 controls" "F;M" "" "" "" "0" "" "" "France" "control" "00262138" "" "" "" "1" "" "00006" "{PMID:David 1997:9288099}" "analysis 29 controls" "F;M" "" "" "" "0" "" "" "France" "control" "00262139" "" "" "" "1" "" "00006" "{PMID:David 1997:9288099}" "SCA patient" "" "" "" "" "0" "" "" "France" "" "00262140" "" "" "" "1" "" "00006" "{PMID:David 1997:9288099}" "SCA patient" "" "" "" "" "0" "" "" "France" "" "00262141" "" "" "" "1" "" "00006" "{PMID:David 1997:9288099}" "SCA patient" "" "" "" "" "0" "" "" "France" "" "00262142" "" "" "" "1" "" "00006" "{PMID:David 1997:9288099}" "SCA patient" "" "" "" "" "0" "" "" "France" "" "00262143" "" "" "" "1" "" "00006" "{PMID:David 1997:9288099}" "SCA patient" "" "" "" "" "0" "" "" "France" "" "00262144" "" "" "" "1" "" "00006" "{PMID:David 1997:9288099}" "SCA patient" "" "" "" "" "0" "" "" "France" "" "00262145" "" "" "" "1" "" "00006" "{PMID:David 1997:9288099}" "SCA patient" "" "" "" "" "0" "" "" "France" "" "00262146" "" "" "" "1" "" "00006" "{PMID:David 1997:9288099}" "SCA patient" "" "" "" "" "0" "" "" "France" "" "00262147" "" "" "" "1" "" "00006" "{PMID:David 1997:9288099}" "SCA patient" "" "" "" "" "0" "" "" "France" "" "00262148" "" "" "" "1" "" "00006" "{PMID:David 1997:9288099}" "SCA patient" "" "" "" "" "0" "" "" "France" "" "00262149" "" "" "" "1" "" "00006" "{PMID:David 1997:9288099}" "SCA patient" "" "" "" "" "0" "" "" "France" "" "00262150" "" "" "" "1" "" "00006" "{PMID:David 1997:9288099}" "SCA patient" "" "" "" "" "0" "" "" "France" "" "00262151" "" "" "" "1" "" "00006" "{PMID:David 1997:9288099}" "SCA patient" "" "" "" "" "0" "" "" "France" "" "00262152" "" "" "" "1" "" "00006" "{PMID:David 1997:9288099}" "SCA patient" "" "" "" "" "0" "" "" "France" "" "00262153" "" "" "" "1" "" "00006" "{PMID:David 1997:9288099}" "SCA patient" "" "" "" "" "0" "" "" "France" "" "00262154" "" "" "" "1" "" "00006" "{PMID:David 1997:9288099}" "SCA patient" "" "" "" "" "0" "" "" "France" "" "00262155" "" "" "" "1" "" "00006" "{PMID:David 1997:9288099}" "SCA patient" "" "" "" "" "0" "" "" "France" "" "00334276" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "M" "" "(United States)" "" "0" "" "" "" "929" "00362236" "" "" "" "1" "" "04043" "Fadaie 2021, submitted" "" "F" "" "Netherlands" "" "0" "" "" "" "?" "00375419" "" "" "" "1" "" "00000" "{PMID:Katagiri 2014:25268133}" "family" "" "" "Japan" "" "0" "" "" "" "RP#011" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 31 "{{individualid}}" "{{diseaseid}}" "00148524" "04167" "00148525" "04167" "00148526" "04167" "00234051" "04167" "00249734" "05356" "00262133" "00000" "00262134" "00000" "00262135" "00000" "00262136" "00000" "00262137" "00000" "00262138" "00000" "00262139" "04167" "00262140" "04167" "00262141" "04167" "00262142" "04167" "00262143" "04167" "00262144" "04167" "00262145" "04167" "00262146" "04167" "00262147" "04167" "00262148" "04167" "00262149" "04167" "00262150" "04167" "00262151" "04167" "00262152" "04167" "00262153" "04167" "00262154" "04167" "00262155" "04167" "00334276" "04214" "00362236" "04214" "00375419" "04214" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 01475, 04167, 04214, 05356 ## Count = 25 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000120968" "04167" "00148524" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "0000120969" "04167" "00148525" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "0000120970" "04167" "00148526" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "0000174473" "04167" "00234051" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "SCA-7" "cerebellar ataxia with retinal degeneration (ADCA type II)" "0000188604" "05356" "00249734" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome" "0000200615" "04167" "00262139" "00006" "Familial, autosomal dominant" "" "" "60y" "" "" "" "" "" "" "SCA-7" "cerebellar ataxia" "0000200616" "04167" "00262140" "00006" "Familial, autosomal dominant" "" "" "56y" "" "" "" "" "" "" "SCA-7" "cerebellar ataxia" "0000200617" "04167" "00262141" "00006" "Familial, autosomal dominant" "" "" "45y" "" "" "" "" "" "" "SCA-7" "cerebellar ataxia" "0000200618" "04167" "00262142" "00006" "Familial, autosomal dominant" "" "" "36y" "" "" "" "" "" "" "SCA-7" "cerebellar ataxia" "0000200619" "04167" "00262143" "00006" "Familial, autosomal dominant" "" "" "35y" "" "" "" "" "" "" "SCA-7" "cerebellar ataxia" "0000200620" "04167" "00262144" "00006" "Familial, autosomal dominant" "" "" "31y" "" "" "" "" "" "" "SCA-7" "cerebellar ataxia" "0000200621" "04167" "00262145" "00006" "Familial, autosomal dominant" "" "" "28y" "" "" "" "" "" "" "SCA-7" "cerebellar ataxia" "0000200622" "04167" "00262146" "00006" "Familial, autosomal dominant" "" "" "26y" "" "" "" "" "" "" "SCA-7" "cerebellar ataxia" "0000200623" "04167" "00262147" "00006" "Familial, autosomal dominant" "" "" "25y" "" "" "" "" "" "" "SCA-7" "cerebellar ataxia" "0000200624" "04167" "00262148" "00006" "Familial, autosomal dominant" "" "" "23y" "" "" "" "" "" "" "SCA-7" "cerebellar ataxia" "0000200625" "04167" "00262149" "00006" "Familial, autosomal dominant" "" "" "21y" "" "" "" "" "" "" "SCA-7" "cerebellar ataxia" "0000200626" "04167" "00262150" "00006" "Familial, autosomal dominant" "" "" "19y" "" "" "" "" "" "" "SCA-7" "cerebellar ataxia" "0000200627" "04167" "00262151" "00006" "Familial, autosomal dominant" "" "" "13y" "" "" "" "" "" "" "SCA-7" "cerebellar ataxia" "0000200628" "04167" "00262152" "00006" "Familial, autosomal dominant" "" "" "9y" "" "" "" "" "" "" "SCA-7" "cerebellar ataxia" "0000200629" "04167" "00262153" "00006" "Familial, autosomal dominant" "" "" "8y" "" "" "" "" "" "" "SCA-7" "cerebellar ataxia" "0000200630" "04167" "00262154" "00006" "Familial, autosomal dominant" "" "" "6y" "" "" "" "" "" "" "SCA-7" "cerebellar ataxia" "0000200631" "04167" "00262155" "00006" "Familial, autosomal dominant" "" "" "2y" "" "" "" "" "" "" "SCA-7" "cerebellar ataxia" "0000252461" "04214" "00334276" "00000" "Familial, autosomal dominant" "17y" "clinical category IIH4" "" "" "" "" "" "" "" "" "spinocerebellar atrophy" "0000257650" "04214" "00362236" "04043" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy with neurodegeneration" "0000270633" "04214" "00375419" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "retinitis pigmentosa" ## Screenings ## Do not remove or alter this header ## ## Count = 31 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000149380" "00148524" "1" "00006" "00006" "2018-01-05 12:33:08" "" "" "PCR" "DNA" "" "" "0000149381" "00148525" "1" "00006" "00006" "2018-01-05 12:42:46" "" "" "PCR" "DNA" "" "" "0000149382" "00148526" "1" "00006" "00006" "2018-01-05 12:48:31" "00006" "2018-01-05 12:52:13" "PCR" "DNA" "" "" "0000235150" "00234051" "1" "00006" "00006" "2019-05-04 10:36:38" "" "" "PCR" "DNA" "" "" "0000250841" "00249734" "1" "00006" "00006" "2019-08-02 11:14:58" "00006" "2019-08-02 12:03:50" "PCR;SEQ;Southern" "DNA" "" "WES" "0000263239" "00262133" "1" "00006" "00006" "2019-08-19 19:21:01" "" "" "PCR" "DNA" "" "" "0000263240" "00262134" "1" "00006" "00006" "2019-08-19 19:21:01" "" "" "PCR" "DNA" "" "" "0000263241" "00262135" "1" "00006" "00006" "2019-08-19 19:21:01" "" "" "PCR" "DNA" "" "" "0000263242" "00262136" "1" "00006" "00006" "2019-08-19 19:21:01" "" "" "PCR" "DNA" "" "" "0000263243" "00262137" "1" "00006" "00006" "2019-08-19 19:21:01" "" "" "PCR" "DNA" "" "" "0000263244" "00262138" "1" "00006" "00006" "2019-08-19 19:21:01" "" "" "PCR" "DNA" "" "" "0000263245" "00262139" "1" "00006" "00006" "2019-08-19 19:48:24" "" "" "PCR" "DNA" "" "" "0000263246" "00262140" "1" "00006" "00006" "2019-08-19 19:48:24" "" "" "PCR" "DNA" "" "" "0000263247" "00262141" "1" "00006" "00006" "2019-08-19 19:48:24" "" "" "PCR" "DNA" "" "" "0000263248" "00262142" "1" "00006" "00006" "2019-08-19 19:48:24" "" "" "PCR" "DNA" "" "" "0000263249" "00262143" "1" "00006" "00006" "2019-08-19 19:48:24" "" "" "PCR" "DNA" "" "" "0000263250" "00262144" "1" "00006" "00006" "2019-08-19 19:48:24" "" "" "PCR" "DNA" "" "" "0000263251" "00262145" "1" "00006" "00006" "2019-08-19 19:48:24" "" "" "PCR" "DNA" "" "" "0000263252" "00262146" "1" "00006" "00006" "2019-08-19 19:48:24" "" "" "PCR" "DNA" "" "" "0000263253" "00262147" "1" "00006" "00006" "2019-08-19 19:48:24" "" "" "PCR" "DNA" "" "" "0000263254" "00262148" "1" "00006" "00006" "2019-08-19 19:48:24" "" "" "PCR" "DNA" "" "" "0000263255" "00262149" "1" "00006" "00006" "2019-08-19 19:48:24" "" "" "PCR" "DNA" "" "" "0000263256" "00262150" "1" "00006" "00006" "2019-08-19 19:48:24" "" "" "PCR" "DNA" "" "" "0000263257" "00262151" "1" "00006" "00006" "2019-08-19 19:48:24" "" "" "PCR" "DNA" "" "" "0000263258" "00262152" "1" "00006" "00006" "2019-08-19 19:48:24" "" "" "PCR" "DNA" "" "" "0000263259" "00262153" "1" "00006" "00006" "2019-08-19 19:48:24" "" "" "PCR" "DNA" "" "" "0000263260" "00262154" "1" "00006" "00006" "2019-08-19 19:48:24" "" "" "PCR" "DNA" "" "" "0000263261" "00262155" "1" "00006" "00006" "2019-08-19 19:48:24" "" "" "PCR" "DNA" "" "" "0000335502" "00334276" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" "" "0000363465" "00362236" "1" "04043" "00006" "2021-04-16 13:26:31" "" "" "SEQ-NG" "DNA" "" "" "0000376616" "00375419" "1" "00000" "00006" "2021-06-04 09:36:04" "" "" "SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 31 "{{screeningid}}" "{{geneid}}" "0000149380" "ATXN7" "0000149381" "ATXN7" "0000149382" "ATXN7" "0000235150" "ATXN7" "0000250841" "ATXN7" "0000250841" "RFC1" "0000263239" "ATXN7" "0000263240" "ATXN7" "0000263241" "ATXN7" "0000263242" "ATXN7" "0000263243" "ATXN7" "0000263244" "ATXN7" "0000263245" "ATXN7" "0000263246" "ATXN7" "0000263247" "ATXN7" "0000263248" "ATXN7" "0000263249" "ATXN7" "0000263250" "ATXN7" "0000263251" "ATXN7" "0000263252" "ATXN7" "0000263253" "ATXN7" "0000263254" "ATXN7" "0000263255" "ATXN7" "0000263256" "ATXN7" "0000263257" "ATXN7" "0000263258" "ATXN7" "0000263259" "ATXN7" "0000263260" "ATXN7" "0000263261" "ATXN7" "0000335502" "ATXN7" "0000363465" "ATXN7" ## 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 = 89 "{{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}}" "0000242724" "11" "10" "3" "63898272" "63898536" "" "0" "00006" "ATXN7_000000" "g.63898272_63898536=" "" "{PMID:Giunti 1999:10330346}" "" "" "" "Germline" "no" "" "0" "" "" "g.63912596_63912860=" "" "benign" "" "0000242725" "20" "90" "3" "63898272" "63898536" "" "0" "00006" "ATXN7_000001" "g.(63898272_63898536)insN[141]" "" "{PMID:Giunti 1999:10330346}" "" "" "de novo expansion from 35 to 57 repeat units" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000242726" "11" "10" "3" "63898272" "63898536" "" "0" "00006" "ATXN7_000002" "g.(63898272_63898536)del(9)" "" "{PMID:Giunti 1999:10330346}" "" "" "" "Germline" "no" "" "0" "" "" "" "" "benign" "" "0000242727" "21" "90" "3" "63898272" "63898536" "" "0" "00006" "ATXN7_000003" "g.(63898272_63898536)insN[114]" "" "{PMID:Giunti 1999:10330346}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000242728" "11" "10" "3" "63898272" "63898536" "" "0" "00006" "ATXN7_000000" "g.63898272_63898536=" "" "{PMID:Giunti 1999:10330346}" "" "" "" "Germline" "no" "" "0" "" "" "g.63912596_63912860=" "" "benign" "" "0000242729" "20" "90" "3" "63898272" "63898536" "" "0" "00006" "ATXN7_000003" "g.(63898272_63898536)insN[114]" "" "{PMID:Giunti 1999:10330346}" "" "" "" "De novo" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000246144" "0" "10" "3" "63968089" "63968089" "subst" "0.000197206" "02330" "ATXN7_000022" "g.63968089A>G" "" "" "" "ATXN7(NM_000333.4):c.980A>G (p.N327S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63982413A>G" "" "benign" "" "0000246146" "0" "10" "3" "63982041" "63982041" "subst" "0.0000528266" "02330" "ATXN7_000030" "g.63982041A>G" "" "" "" "ATXN7(NM_000333.4):c.2543A>G (p.N848S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63996365A>G" "" "benign" "" "0000251091" "0" "10" "3" "63968025" "63968025" "subst" "0.00116199" "02326" "ATXN7_000019" "g.63968025A>T" "" "" "" "ATXN7(NM_000333.3):c.916A>T (p.I306F, p.(Ile306Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63982349A>T" "" "benign" "" "0000251135" "0" "10" "3" "63968083" "63968083" "subst" "0.0115174" "02326" "ATXN7_000020" "g.63968083A>G" "" "" "" "ATXN7(NM_000333.3):c.974A>G (p.N325S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63982407A>G" "" "benign" "" "0000258499" "0" "10" "3" "63898266" "63898266" "subst" "0.0150931" "02330" "ATXN7_000004" "g.63898266G>A" "" "" "" "ATXN7(NM_000333.4):c.-9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63912590G>A" "" "benign" "" "0000258500" "0" "10" "3" "63968134" "63968134" "subst" "0.000537102" "02330" "ATXN7_000033" "g.63968134T>A" "" "" "" "ATXN7(NM_000333.3):c.1012+13T>A, ATXN7(NM_000333.4):c.1012+13T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63982458T>A" "" "benign" "" "0000258504" "0" "10" "3" "63898390" "63898392" "del" "0" "02330" "ATXN7_000012" "g.63898390_63898392del" "" "" "" "ATXN7(NM_000333.3):c.116_118delAGC (p.Q39del), ATXN7(NM_000333.4):c.116_118delAGC (p.Q39del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63912714_63912716del" "" "benign" "" "0000258507" "0" "30" "3" "63973936" "63973941" "del" "0.0000203244" "02330" "ATXN7_000023" "g.63973936_63973941del" "" "" "" "ATXN7(NM_000333.4):c.1297_1302delATTCCT (p.I433_P434del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63988260_63988265del" "" "likely benign" "" "0000258508" "0" "50" "3" "63976466" "63976466" "subst" "0.0000852833" "02330" "ATXN7_000024" "g.63976466C>G" "" "" "" "ATXN7(NM_000333.3):c.1613C>G (p.S538C), ATXN7(NM_000333.4):c.1613C>G (p.S538C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63990790C>G" "" "VUS" "" "0000258509" "0" "30" "3" "63981657" "63981657" "subst" "0" "02330" "ATXN7_000025" "g.63981657C>G" "" "" "" "ATXN7(NM_000333.4):c.2159C>G (p.S720C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63995981C>G" "" "likely benign" "" "0000258510" "0" "30" "3" "63981668" "63981668" "subst" "0" "02330" "ATXN7_000026" "g.63981668T>A" "" "" "" "ATXN7(NM_000333.3):c.2170T>A (p.S724T), ATXN7(NM_000333.4):c.2170T>A (p.S724T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63995992T>A" "" "likely benign" "" "0000258511" "0" "10" "3" "63981799" "63981799" "subst" "0.00266806" "02330" "ATXN7_000028" "g.63981799G>A" "" "" "" "ATXN7(NM_000333.4):c.2301G>A (p.A767=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63996123G>A" "" "benign" "" "0000258512" "0" "10" "3" "63981805" "63981805" "subst" "0.0000488118" "02330" "ATXN7_000029" "g.63981805C>T" "" "" "" "ATXN7(NM_000333.4):c.2307C>T (p.N769=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63996129C>T" "" "benign" "" "0000258514" "0" "10" "3" "63898547" "63898547" "subst" "0.00167526" "02330" "ATXN7_000016" "g.63898547G>C" "" "" "" "ATXN7(NM_000333.3):c.273G>C (p.L91=), ATXN7(NM_000333.4):c.273G>C (p.L91=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63912871G>C" "" "benign" "" "0000258515" "0" "10" "3" "63967895" "63967895" "subst" "0.00000406352" "02330" "ATXN7_000018" "g.63967895T>C" "" "" "" "ATXN7(NM_000333.4):c.786T>C (p.H262=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63982219T>C" "" "benign" "" "0000258516" "0" "10" "3" "63968087" "63968087" "subst" "0.00273634" "02330" "ATXN7_000021" "g.63968087C>T" "" "" "" "ATXN7(NM_000333.4):c.978C>T (p.S326=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63982411C>T" "" "benign" "" "0000261327" "0" "30" "3" "63968134" "63968134" "subst" "0.000537102" "02326" "ATXN7_000033" "g.63968134T>A" "" "" "" "ATXN7(NM_000333.3):c.1012+13T>A, ATXN7(NM_000333.4):c.1012+13T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63982458T>A" "" "likely benign" "" "0000261328" "0" "10" "3" "63981676" "63981676" "subst" "0.0227275" "02326" "ATXN7_000027" "g.63981676T>C" "" "" "" "ATXN7(NM_000333.3):c.2178T>C (p.S726=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63996000T>C" "" "benign" "" "0000261329" "0" "30" "3" "63985157" "63985157" "subst" "0.00399143" "02326" "ATXN7_000032" "g.63985157C>A" "" "" "" "ATXN7(NM_001177387.1):c.2760C>A (p.S920R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63999481C>A" "" "likely benign" "" "0000261330" "0" "10" "3" "63965867" "63965867" "subst" "0.0221325" "02326" "ATXN7_000017" "g.63965867T>C" "" "" "" "ATXN7(NM_000333.3):c.752+24T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63980191T>C" "" "benign" "" "0000263456" "0" "30" "3" "63981668" "63981668" "subst" "0" "01943" "ATXN7_000026" "g.63981668T>A" "" "" "" "ATXN7(NM_000333.3):c.2170T>A (p.S724T), ATXN7(NM_000333.4):c.2170T>A (p.S724T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63995992T>A" "" "likely benign" "" "0000329493" "0" "50" "3" "63898360" "63898365" "dup" "0" "01804" "ATXN7_000005" "g.63898360_63898365dup" "" "" "" "ATXN7(NM_000333.3):c.84_85insCGGCAG (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63912684_63912689dup" "" "VUS" "" "0000329494" "0" "50" "3" "63898387" "63898392" "dup" "0" "01804" "ATXN7_000010" "g.63898387_63898392dup" "" "" "" "ATXN7(NM_000333.3):c.86_87insGCAGCA (p.(Arg29_Gln30insGlnGln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63912711_63912716dup" "" "VUS" "" "0000329495" "0" "50" "3" "63898384" "63898392" "dup" "0" "01804" "ATXN7_000011" "g.63898384_63898392dup" "" "" "" "ATXN7(NM_000333.3):c.86_87insGCAGCAGCA (p.(Arg29_Gln30insGlnGlnGln)), ATXN7(NM_000333.4):c.110_118dupAGCAGCAGC (p.Q37_Q39dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63912708_63912716dup" "" "VUS" "" "0000329499" "0" "50" "3" "63898399" "63898404" "dup" "0" "01804" "ATXN7_000015" "g.63898399_63898404dup" "" "" "" "ATXN7(NM_000333.3):c.120_121insCCGCCT (p.(Pro40_Pro41insProPro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63912723_63912728dup" "" "VUS" "" "0000329500" "0" "50" "3" "63968025" "63968025" "subst" "0.00116199" "01804" "ATXN7_000019" "g.63968025A>T" "" "" "" "ATXN7(NM_000333.3):c.916A>T (p.I306F, p.(Ile306Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63982349A>T" "" "VUS" "" "0000477898" "11" "90" "3" "63898278" "63898520" "" "0" "00006" "ATXN7_000034" "g.(63898278_63898520)insN[99]" "" "{PMID:Del-Favero 1998:09425224}" "" "" "" "Germline" "yes" "" "0" "" "" "g.(63912602_63912844)insN[99]" "" "pathogenic (dominant)" "" "0000477899" "21" "10" "3" "63898278" "63898520" "" "0" "00006" "ATXN7_000035" "g.(63898278_63898520)=" "" "{PMID:Del-Favero 1998:09425224}" "" "" "" "Germline" "no" "" "0" "" "" "" "" "benign" "" "0000520563" "0" "10" "3" "63898374" "63898375" "ins" "0" "02330" "ATXN7_000041" "g.63898374_63898375insCCC" "" "" "" "ATXN7(NM_000333.4):c.100_101insCCC (p.Q33_Q34insP)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63912698_63912699insCCC" "" "benign" "" "0000520564" "0" "30" "3" "63898378" "63898378" "subst" "0" "02330" "ATXN7_000042" "g.63898378A>C" "" "" "" "ATXN7(NM_000333.3):c.104A>C (p.Q35P), ATXN7(NM_000333.4):c.104A>C (p.Q35P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63912702A>C" "" "likely benign" "" "0000520565" "0" "30" "3" "63898378" "63898378" "subst" "0" "02326" "ATXN7_000042" "g.63898378A>C" "" "" "" "ATXN7(NM_000333.3):c.104A>C (p.Q35P), ATXN7(NM_000333.4):c.104A>C (p.Q35P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63912702A>C" "" "likely benign" "" "0000520566" "0" "10" "3" "63898381" "63898392" "dup" "0" "02330" "ATXN7_000043" "g.63898381_63898392dup" "" "" "" "ATXN7(NM_000333.4):c.107_118dupAGCAGCAGCAGC (p.Q36_Q39dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63912705_63912716dup" "" "benign" "" "0000520568" "0" "10" "3" "63898384" "63898392" "dup" "0" "02330" "ATXN7_000011" "g.63898384_63898392dup" "" "" "" "ATXN7(NM_000333.3):c.86_87insGCAGCAGCA (p.(Arg29_Gln30insGlnGlnGln)), ATXN7(NM_000333.4):c.110_118dupAGCAGCAGC (p.Q37_Q39dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63912708_63912716dup" "" "benign" "" "0000520570" "0" "10" "3" "63898390" "63898392" "dup" "0" "02330" "ATXN7_000045" "g.63898390_63898392dup" "" "" "" "ATXN7(NM_000333.4):c.116_118dupAGC (p.Q39dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63912714_63912716dup" "" "benign" "" "0000520572" "0" "30" "3" "63898392" "63898393" "ins" "0" "02330" "ATXN7_000047" "g.63898392_63898393insAGCAGCCGC" "" "" "" "ATXN7(NM_000333.4):c.118_119insAGCAGCCGC (p.Q39_P40insQQP)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63912716_63912717insAGCAGCCGC" "" "likely benign" "" "0000520574" "0" "10" "3" "63898397" "63898399" "dup" "0" "02330" "ATXN7_000049" "g.63898397_63898399dup" "" "" "" "ATXN7(NM_000333.4):c.123_125dupGCC (p.P43dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63912721_63912723dup" "" "benign" "" "0000520575" "0" "30" "3" "63898547" "63898547" "subst" "0.00167526" "01943" "ATXN7_000016" "g.63898547G>C" "" "" "" "ATXN7(NM_000333.3):c.273G>C (p.L91=), ATXN7(NM_000333.4):c.273G>C (p.L91=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63912871G>C" "" "likely benign" "" "0000520576" "0" "10" "3" "63953620" "63953620" "subst" "0.00000773826" "02330" "ATXN7_000050" "g.63953620C>T" "" "" "" "ATXN7(NM_001128149.3):c.33C>T (p.S11=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63967944C>T" "" "benign" "" "0000520577" "0" "10" "3" "63967845" "63967845" "subst" "0.000016352" "02330" "ATXN7_000051" "g.63967845A>G" "" "" "" "ATXN7(NM_000333.4):c.753-17A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63982169A>G" "" "benign" "" "0000520578" "0" "10" "3" "63968054" "63968054" "subst" "0.0000203298" "02330" "ATXN7_000052" "g.63968054G>A" "" "" "" "ATXN7(NM_000333.4):c.945G>A (p.P315=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63982378G>A" "" "benign" "" "0000520579" "0" "50" "3" "63973789" "63973789" "subst" "0.0000487496" "01943" "ATXN7_000053" "g.63973789G>T" "" "" "" "ATXN7(NM_000333.3):c.1150G>T (p.V384L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63988113G>T" "" "VUS" "" "0000520580" "0" "30" "3" "63975842" "63975842" "subst" "0" "02330" "ATXN7_000054" "g.63975842A>C" "" "" "" "ATXN7(NM_000333.4):c.1362-10A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63990166A>C" "" "likely benign" "" "0000520581" "0" "50" "3" "63976466" "63976466" "subst" "0.0000852833" "01943" "ATXN7_000024" "g.63976466C>G" "" "" "" "ATXN7(NM_000333.3):c.1613C>G (p.S538C), ATXN7(NM_000333.4):c.1613C>G (p.S538C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63990790C>G" "" "VUS" "" "0000520582" "0" "30" "3" "63981977" "63981977" "subst" "0.000841292" "02330" "ATXN7_000055" "g.63981977A>G" "" "" "" "ATXN7(NM_000333.3):c.2479A>G (p.T827A), ATXN7(NM_000333.4):c.2479A>G (p.T827A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63996301A>G" "" "likely benign" "" "0000520583" "0" "10" "3" "63983390" "63983390" "dup" "0" "02330" "ATXN7_000056" "g.63983390dup" "" "" "" "ATXN7(NM_000333.4):c.2661+1231dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63997714dup" "" "benign" "" "0000520584" "0" "30" "3" "63985157" "63985157" "subst" "0.00399143" "01943" "ATXN7_000032" "g.63985157C>A" "" "" "" "ATXN7(NM_001177387.1):c.2760C>A (p.S920R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63999481C>A" "" "likely benign" "" "0000580240" "0" "50" "3" "63985224" "63985224" "subst" "0.00000473727" "00006" "ATXN7_000057" "g.63985224C>G" "" "{PMID:Rafehi 2019:31230722}" "" "NM_001177387.1:c.2827C>G (Arg943Gly)" "" "Unknown" "" "" "0" "" "" "g.63999548C>G" "" "VUS" "" "0000593721" "0" "10" "3" "63898272" "63898536" "" "0" "00006" "ATXN7_000002" "g.(63898272_63898536)del(9)" "1/58 control chromosomes" "{PMID:David 1997:09288099}" "" "" "" "Germline" "" "" "0" "" "" "g.(63912596_63912860)del(9)" "" "benign" "" "0000593722" "0" "10" "3" "63898272" "63898536" "" "0" "00006" "ATXN7_000000" "g.(63898272_63898536)=" "45/58 control chromosomes" "{PMID:David 1997:09288099}" "" "" "" "Germline" "" "" "0" "" "" "g.(63912596_63912860)=" "" "benign" "" "0000593723" "0" "10" "3" "63898272" "63898536" "" "0" "00006" "ATXN7_000058" "g.(63898272_63898536)insN[3]" "4/58 control chromosomes" "{PMID:David 1997:09288099}" "" "" "" "Germline" "" "" "0" "" "" "g.(63912596_63912860)insN[3]" "" "benign" "" "0000593724" "0" "10" "3" "63898272" "63898536" "" "0" "00006" "ATXN7_000059" "g.(63898272_63898536)insN[6]" "4/58 control chromosomes" "{PMID:David 1997:09288099}" "" "" "" "Germline" "" "" "0" "" "" "g.(63912596_63912860)insN[6]" "" "benign" "" "0000593725" "0" "10" "3" "63898272" "63898536" "" "0" "00006" "ATXN7_000060" "g.(63898272_63898536)insN[9]" "3/58 control chromosomes" "{PMID:David 1997:09288099}" "" "" "" "Germline" "" "" "0" "" "" "g.(63912596_63912860)insN[9]" "" "benign" "" "0000593726" "0" "10" "3" "63898272" "63898536" "" "0" "00006" "ATXN7_000061" "g.(63898272_63898536)insN[21]" "1/58 control chromosomes" "{PMID:David 1997:09288099}" "" "" "" "Germline" "" "" "0" "" "" "g.(63912596_63912860)insN[21]" "" "benign" "" "0000593727" "1" "90" "3" "63898272" "63898536" "" "0" "00006" "ATXN7_000062" "g.(63898272_63898536)insN[84]" "" "{PMID:David 1997:09288099}" "" "" "" "Germline" "" "" "0" "" "" "g.(63912596_63912860)insN[84]" "" "pathogenic (dominant)" "" "0000593728" "1" "90" "3" "63898272" "63898536" "" "0" "00006" "ATXN7_000063" "g.(63898272_63898536)insN[93]" "" "{PMID:David 1997:09288099}" "" "" "" "Germline" "" "" "0" "" "" "g.(63912596_63912860)insN[93]" "" "pathogenic (dominant)" "" "0000593729" "1" "90" "3" "63898272" "63898536" "" "0" "00006" "ATXN7_000064" "g.(63898272_63898536)insN[99]" "" "{PMID:David 1997:09288099}" "" "" "" "Germline" "" "" "0" "" "" "g.(63912596_63912860)insN[99]" "" "pathogenic (dominant)" "" "0000593730" "1" "90" "3" "63898272" "63898536" "" "0" "00006" "ATXN7_000065" "g.(63898272_63898536)insN[102]" "" "{PMID:David 1997:09288099}" "" "" "" "Germline" "" "" "0" "" "" "g.(63912596_63912860)insN[102]" "" "pathogenic (dominant)" "" "0000593731" "1" "90" "3" "63898272" "63898536" "" "0" "00006" "ATXN7_000065" "g.(63898272_63898536)insN[102]" "" "{PMID:David 1997:09288099}" "" "" "" "Germline" "" "" "0" "" "" "g.(63912596_63912860)insN[102]" "" "pathogenic (dominant)" "" "0000593732" "1" "90" "3" "63898272" "63898536" "" "0" "00006" "ATXN7_000065" "g.(63898272_63898536)insN[102]" "" "{PMID:David 1997:09288099}" "" "" "" "Germline" "" "" "0" "" "" "g.(63912596_63912860)insN[102]" "" "pathogenic (dominant)" "" "0000593733" "1" "90" "3" "63898272" "63898536" "" "0" "00006" "ATXN7_000064" "g.(63898272_63898536)insN[99]" "" "{PMID:David 1997:09288099}" "" "" "" "Germline" "" "" "0" "" "" "g.(63912596_63912860)insN[99]" "" "pathogenic (dominant)" "" "0000593734" "1" "90" "3" "63898272" "63898536" "" "0" "00006" "ATXN7_000065" "g.(63898272_63898536)insN[102]" "" "{PMID:David 1997:09288099}" "" "" "" "Germline" "" "" "0" "" "" "g.(63912596_63912860)insN[102]" "" "pathogenic (dominant)" "" "0000593735" "1" "90" "3" "63898272" "63898536" "" "0" "00006" "ATXN7_000066" "g.(63898272_63898536)insN[105]" "" "{PMID:David 1997:09288099}" "" "" "" "Germline" "" "" "0" "" "" "g.(63912596_63912860)insN[105]" "" "pathogenic (dominant)" "" "0000593736" "1" "90" "3" "63898272" "63898536" "" "0" "00006" "ATXN7_000066" "g.(63898272_63898536)insN[105]" "" "{PMID:David 1997:09288099}" "" "" "" "Germline" "" "" "0" "" "" "g.(63912596_63912860)insN[105]" "" "pathogenic (dominant)" "" "0000593737" "1" "90" "3" "63898272" "63898536" "" "0" "00006" "ATXN7_000066" "g.(63898272_63898536)insN[105]" "" "{PMID:David 1997:09288099}" "" "" "" "Germline" "" "" "0" "" "" "g.(63912596_63912860)insN[105]" "" "pathogenic (dominant)" "" "0000593738" "1" "90" "3" "63898272" "63898536" "" "0" "00006" "ATXN7_000067" "g.(63898272_63898536)insN[111]" "" "{PMID:David 1997:09288099}" "" "" "" "Germline" "" "" "0" "" "" "g.(63912596_63912860)insN[111]" "" "pathogenic (dominant)" "" "0000593739" "1" "90" "3" "63898272" "63898536" "" "0" "00006" "ATXN7_000068" "g.(63898272_63898536)insN[108]" "" "{PMID:David 1997:09288099}" "" "" "" "Germline" "" "" "0" "" "" "g.(63912596_63912860)insN[108]" "" "pathogenic (dominant)" "" "0000593740" "1" "90" "3" "63898272" "63898536" "" "0" "00006" "ATXN7_000069" "g.(63898272_63898536)insN[132]" "" "{PMID:David 1997:09288099}" "" "" "" "Germline" "" "" "0" "" "" "g.(63912596_63912860)insN[132]" "" "pathogenic (dominant)" "" "0000593741" "1" "90" "3" "63898272" "63898536" "" "0" "00006" "ATXN7_000070" "g.(63898272_63898536)insN[135]" "" "{PMID:David 1997:09288099}" "" "" "" "Germline" "" "" "0" "" "" "g.(63912596_63912860)insN[135]" "" "pathogenic (dominant)" "" "0000593742" "1" "90" "3" "63898272" "63898536" "" "0" "00006" "ATXN7_000071" "g.(63898272_63898536)insN[210]" "" "{PMID:David 1997:09288099}" "" "" "" "Germline" "" "" "0" "" "" "g.(63912596_63912860)insN[210]" "" "pathogenic (dominant)" "" "0000593743" "1" "90" "3" "63898272" "63898536" "" "0" "00006" "ATXN7_000072" "g.(63898272_63898536)insN[(360_?)]" "" "{PMID:David 1997:09288099}" "" "" "" "Germline" "" "" "0" "" "" "g.(63912596_63912860)insN[(360_?)]" "" "pathogenic (dominant)" "" "0000608864" "0" "10" "3" "63981808" "63981808" "subst" "0.0000650819" "02330" "ATXN7_000073" "g.63981808C>T" "" "" "" "ATXN7(NM_000333.4):c.2310C>T (p.V770=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63996132C>T" "" "benign" "" "0000608865" "0" "30" "3" "63981977" "63981977" "subst" "0.000841292" "01943" "ATXN7_000055" "g.63981977A>G" "" "" "" "ATXN7(NM_000333.3):c.2479A>G (p.T827A), ATXN7(NM_000333.4):c.2479A>G (p.T827A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63996301A>G" "" "likely benign" "" "0000621315" "0" "50" "3" "63898378" "63898378" "subst" "0" "01943" "ATXN7_000042" "g.63898378A>C" "" "" "" "ATXN7(NM_000333.3):c.104A>C (p.Q35P), ATXN7(NM_000333.4):c.104A>C (p.Q35P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63912702A>C" "" "VUS" "" "0000655011" "0" "50" "3" "63973930" "63973930" "subst" "0.0000081277" "01943" "ATXN7_000074" "g.63973930G>A" "" "" "" "ATXN7(NM_000333.3):c.1291G>A (p.G431R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63988254G>A" "" "VUS" "" "0000655012" "0" "30" "3" "63981225" "63981225" "subst" "0.000629437" "01943" "ATXN7_000075" "g.63981225G>A" "" "" "" "ATXN7(NM_000333.3):c.1727G>A (p.R576H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63995549G>A" "" "likely benign" "" "0000689140" "0" "50" "3" "63898321" "63898321" "subst" "0.000319966" "01943" "ATXN7_000076" "g.63898321C>G" "" "" "" "ATXN7(NM_000333.3):c.47C>G (p.A16G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000719595" "0" "30" "3" "63981655" "63981655" "subst" "0.00082999" "01943" "ATXN7_000077" "g.63981655C>T" "" "" "" "ATXN7(NM_000333.3):c.2157C>T (p.S719=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000733511" "0" "70" "3" "63898251" "63898558" "ins" "0" "00000" "ATXN7_000078" "g.63898251_63898558insN[?]" "" "{PMID:Stone 2017:28559085}" "" "expansion, chr3:63898251-63898558" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000764120" "0" "90" "3" "63898362" "63898391" "" "0" "04043" "ATXN7_000079" "g.63898362_63898391CAG[70]" "" "Fadaie 2021, submitted" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000788412" "0" "50" "3" "63973880" "63973880" "subst" "0.0000894309" "00000" "ATXN7_000080" "g.63973880C>T" "" "{PMID:Katagiri 2014:25268133}" "" "C1241T" "" "Germline" "" "" "0" "" "" "g.63988204C>T" "" "VUS" "" "0000850403" "0" "50" "3" "63968025" "63968025" "subst" "0.00116199" "01943" "ATXN7_000019" "g.63968025A>T" "" "" "" "ATXN7(NM_000333.3):c.916A>T (p.I306F, p.(Ile306Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000859121" "0" "10" "3" "63898390" "63898392" "del" "0" "01943" "ATXN7_000012" "g.63898390_63898392del" "" "" "" "ATXN7(NM_000333.3):c.116_118delAGC (p.Q39del), ATXN7(NM_000333.4):c.116_118delAGC (p.Q39del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000859122" "0" "10" "3" "63898497" "63898497" "subst" "0.000855412" "02330" "ATXN7_000081" "g.63898497A>G" "" "" "" "ATXN7(NM_000333.4):c.223A>G (p.M75V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "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 ATXN7 ## Count = 89 "{{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}}" "0000242724" "00003165" "10" "-3" "0" "262" "0" "c.(-3_262)=" "r.(?)" "p.(=)" "3" "Gln[10]" "0000242725" "00003165" "90" "0" "0" "0" "0" "c.(-3_262]insN[141]" "r.(?)" "p.(Gln30_Gln39ins(47))" "3" "Gln[57]" "0000242726" "00003165" "10" "-3" "0" "262" "0" "c.(-3_262)del(9)" "r.(?)" "p.(Gln30_Gln39del(3))" "3" "Gln[7]" "0000242727" "00003165" "90" "0" "0" "0" "0" "c.(-3_262]insN[114]" "r.(?)" "p.(Gln30_Gln39ins(38))" "3" "Gln[48]" "0000242728" "00003165" "10" "-3" "0" "262" "0" "c.(-3_262)=" "r.(?)" "p.(=)" "3" "Gln[10]" "0000242729" "00003165" "90" "0" "0" "0" "0" "c.(-3_262]insN[114]" "r.(?)" "p.(Gln30_Gln39ins(38))" "3" "Gln[48]" "0000246144" "00003165" "10" "980" "0" "980" "0" "c.980A>G" "r.(?)" "p.(Asn327Ser)" "" "" "0000246146" "00003165" "10" "2543" "0" "2543" "0" "c.2543A>G" "r.(?)" "p.(Asn848Ser)" "" "" "0000251091" "00003165" "10" "916" "0" "916" "0" "c.916A>T" "r.(?)" "p.(Ile306Phe)" "" "" "0000251135" "00003165" "10" "974" "0" "974" "0" "c.974A>G" "r.(?)" "p.(Asn325Ser)" "" "" "0000258499" "00003165" "10" "-9" "0" "-9" "0" "c.-9G>A" "r.(?)" "p.(=)" "" "" "0000258500" "00003165" "10" "1012" "13" "1012" "13" "c.1012+13T>A" "r.(=)" "p.(=)" "" "" "0000258504" "00003165" "10" "116" "0" "118" "0" "c.116_118del" "r.(?)" "p.(Gln39del)" "" "" "0000258507" "00003165" "30" "1297" "0" "1302" "0" "c.1297_1302del" "r.(?)" "p.(Ile433_Pro434del)" "" "" "0000258508" "00003165" "50" "1613" "0" "1613" "0" "c.1613C>G" "r.(?)" "p.(Ser538Cys)" "" "" "0000258509" "00003165" "30" "2159" "0" "2159" "0" "c.2159C>G" "r.(?)" "p.(Ser720Cys)" "" "" "0000258510" "00003165" "30" "2170" "0" "2170" "0" "c.2170T>A" "r.(?)" "p.(Ser724Thr)" "" "" "0000258511" "00003165" "10" "2301" "0" "2301" "0" "c.2301G>A" "r.(?)" "p.(Ala767=)" "" "" "0000258512" "00003165" "10" "2307" "0" "2307" "0" "c.2307C>T" "r.(?)" "p.(Asn769=)" "" "" "0000258514" "00003165" "10" "273" "0" "273" "0" "c.273G>C" "r.(?)" "p.(Leu91=)" "" "" "0000258515" "00003165" "10" "786" "0" "786" "0" "c.786T>C" "r.(?)" "p.(His262=)" "" "" "0000258516" "00003165" "10" "978" "0" "978" "0" "c.978C>T" "r.(?)" "p.(Ser326=)" "" "" "0000261327" "00003165" "30" "1012" "13" "1012" "13" "c.1012+13T>A" "r.(=)" "p.(=)" "" "" "0000261328" "00003165" "10" "2178" "0" "2178" "0" "c.2178T>C" "r.(?)" "p.(Ser726=)" "" "" "0000261329" "00003165" "30" "2693" "0" "2693" "0" "c.*14C>A" "r.(=)" "p.(=)" "" "" "0000261330" "00003165" "10" "752" "24" "752" "24" "c.752+24T>C" "r.(=)" "p.(=)" "" "" "0000263456" "00003165" "30" "2170" "0" "2170" "0" "c.2170T>A" "r.(?)" "p.(Ser724Thr)" "" "" "0000329493" "00003165" "50" "86" "0" "91" "0" "c.86_91dup" "r.(?)" "p.(Arg29_Gln30dup)" "" "" "0000329494" "00003165" "50" "113" "0" "118" "0" "c.113_118dup" "r.(?)" "p.(Gln38_Gln39dup)" "" "" "0000329495" "00003165" "50" "110" "0" "118" "0" "c.110_118dup" "r.(?)" "p.(Gln37_Gln39dup)" "" "" "0000329499" "00003165" "50" "125" "0" "130" "0" "c.125_130dup" "r.(?)" "p.(Pro42_Pro43dup)" "" "" "0000329500" "00003165" "50" "916" "0" "916" "0" "c.916A>T" "r.(?)" "p.(Ile306Phe)" "" "" "0000477898" "00003165" "90" "0" "0" "0" "0" "c.(4_246]insN[99]" "r.(?)" "p.(Gln30_Gln39ins(33))" "3" "Gln[43]" "0000477899" "00003165" "10" "4" "0" "246" "0" "c.(4_246)=" "r.(=)" "p.(=)" "3" "Gln[10]" "0000520563" "00003165" "10" "100" "0" "101" "0" "c.100_101insCCC" "r.(?)" "p.(Gln33_Gln34insPro)" "" "" "0000520564" "00003165" "30" "104" "0" "104" "0" "c.104A>C" "r.(?)" "p.(Gln35Pro)" "" "" "0000520565" "00003165" "30" "104" "0" "104" "0" "c.104A>C" "r.(?)" "p.(Gln35Pro)" "" "" "0000520566" "00003165" "10" "107" "0" "118" "0" "c.107_118dup" "r.(?)" "p.(Gln36_Gln39dup)" "" "" "0000520568" "00003165" "10" "110" "0" "118" "0" "c.110_118dup" "r.(?)" "p.(Gln37_Gln39dup)" "" "" "0000520570" "00003165" "10" "116" "0" "118" "0" "c.116_118dup" "r.(?)" "p.(Gln39dup)" "" "" "0000520572" "00003165" "30" "118" "0" "119" "0" "c.118_119insAGCAGCCGC" "r.(?)" "p.(Gln39_Pro40insGlnGlnPro)" "" "" "0000520574" "00003165" "10" "123" "0" "125" "0" "c.123_125dup" "r.(?)" "p.(Pro43dup)" "" "" "0000520575" "00003165" "30" "273" "0" "273" "0" "c.273G>C" "r.(?)" "p.(Leu91=)" "" "" "0000520576" "00003165" "10" "500" "-11971" "500" "-11971" "c.500-11971C>T" "r.(=)" "p.(=)" "" "" "0000520577" "00003165" "10" "753" "-17" "753" "-17" "c.753-17A>G" "r.(=)" "p.(=)" "" "" "0000520578" "00003165" "10" "945" "0" "945" "0" "c.945G>A" "r.(?)" "p.(Pro315=)" "" "" "0000520579" "00003165" "50" "1150" "0" "1150" "0" "c.1150G>T" "r.(?)" "p.(Val384Leu)" "" "" "0000520580" "00003165" "30" "1362" "-10" "1362" "-10" "c.1362-10A>C" "r.(=)" "p.(=)" "" "" "0000520581" "00003165" "50" "1613" "0" "1613" "0" "c.1613C>G" "r.(?)" "p.(Ser538Cys)" "" "" "0000520582" "00003165" "30" "2479" "0" "2479" "0" "c.2479A>G" "r.(?)" "p.(Thr827Ala)" "" "" "0000520583" "00003165" "10" "2661" "1231" "2661" "1231" "c.2661+1231dup" "r.(=)" "p.(=)" "" "" "0000520584" "00003165" "30" "2693" "0" "2693" "0" "c.*14C>A" "r.(=)" "p.(=)" "" "" "0000580240" "00003165" "50" "2760" "0" "2760" "0" "c.*81C>G" "r.(?)" "p.(=)" "" "" "0000593721" "00003165" "10" "-3" "0" "262" "0" "c.(-3_262)del(9)" "r.(?)" "p.(Gln30_Gln39del(3))" "" "Gln[7]" "0000593722" "00003165" "10" "-3" "0" "262" "0" "c.(-3_262)=" "r.(?)" "p.(=)" "" "Gln[10]" "0000593723" "00003165" "10" "" "0" "" "0" "c.(-3_262]insN[3]" "r.(?)" "p.(Gln30_Gln39ins(3))" "" "Gln[11]" "0000593724" "00003165" "10" "" "0" "" "0" "c.(-3_262]insN[6]" "r.(?)" "p.(Gln30_Gln39ins(6))" "" "Gln[12]" "0000593725" "00003165" "10" "" "0" "" "0" "c.(-3_262]insN[9]" "r.(?)" "p.(Gln30_Gln39ins(9))" "" "Gln[13]" "0000593726" "00003165" "10" "" "0" "" "0" "c.(-3_262]insN[21]" "r.(?)" "p.(Gln30_Gln39ins(21))" "" "Gln[17]" "0000593727" "00003165" "90" "" "0" "" "0" "c.(-3_262]insN[84]" "r.(?)" "p.(Gln30_Gln39ins(28))" "" "Gln[38]" "0000593728" "00003165" "90" "" "0" "" "0" "c.(-3_262]insN[93]" "r.(?)" "p.(Gln30_Gln39ins(31))" "" "Gln[41]" "0000593729" "00003165" "90" "" "0" "" "0" "c.(-3_262]insN[99]" "r.(?)" "p.(Gln30_Gln39ins(33))" "" "Gln[43]" "0000593730" "00003165" "90" "" "0" "" "0" "c.(-3_262]insN[102]" "r.(?)" "p.(Gln30_Gln39ins(34))" "" "Gln[44]" "0000593731" "00003165" "90" "" "0" "" "0" "c.(-3_262]insN[102]" "r.(?)" "p.(Gln30_Gln39ins(34))" "" "Gln[44]" "0000593732" "00003165" "90" "" "0" "" "0" "c.(-3_262]insN[102]" "r.(?)" "p.(Gln30_Gln39ins(34))" "" "Gln[44]" "0000593733" "00003165" "90" "" "0" "" "0" "c.(-3_262]insN[99]" "r.(?)" "p.(Gln30_Gln39ins(33))" "" "Gln[43]" "0000593734" "00003165" "90" "" "0" "" "0" "c.(-3_262]insN[102]" "r.(?)" "p.(Gln30_Gln39ins(34))" "" "Gln[44]" "0000593735" "00003165" "90" "" "0" "" "0" "c.(-3_262]insN[105]" "r.(?)" "p.(Gln30_Gln39ins(35))" "" "Gln[45]" "0000593736" "00003165" "90" "" "0" "" "0" "c.(-3_262]insN[105]" "r.(?)" "p.(Gln30_Gln39ins(35))" "" "Gln[45]" "0000593737" "00003165" "90" "" "0" "" "0" "c.(-3_262]insN[105]" "r.(?)" "p.(Gln30_Gln39ins(35))" "" "Gln[45]" "0000593738" "00003165" "90" "" "0" "" "0" "c.(-3_262]insN[111]" "r.(?)" "p.(Gln30_Gln39ins(37))" "" "Gln[47]" "0000593739" "00003165" "90" "" "0" "" "0" "c.(-3_262]insN[108]" "r.(?)" "p.(Gln30_Gln39ins(36))" "" "Gln[46]" "0000593740" "00003165" "90" "" "0" "" "0" "c.(-3_262]insN[132]" "r.(?)" "p.(Gln30_Gln39ins(44))" "" "Gln[54]" "0000593741" "00003165" "90" "" "0" "" "0" "c.(-3_262]insN[135]" "r.(?)" "p.(Gln30_Gln39ins(45))" "" "Gln[55]" "0000593742" "00003165" "90" "" "0" "" "0" "c.(-3_262]insN[210]" "r.(?)" "p.(Gln30_Gln39ins(70))" "" "Gln[80]" "0000593743" "00003165" "90" "" "0" "" "0" "c.(-3_262]ins[(360_?)]" "r.(?)" "p.(Gln30_Gln39ins(120_?))" "" "Gln[(130_?)]" "0000608864" "00003165" "10" "2310" "0" "2310" "0" "c.2310C>T" "r.(?)" "p.(Val770=)" "" "" "0000608865" "00003165" "30" "2479" "0" "2479" "0" "c.2479A>G" "r.(?)" "p.(Thr827Ala)" "" "" "0000621315" "00003165" "50" "104" "0" "104" "0" "c.104A>C" "r.(?)" "p.(Gln35Pro)" "" "" "0000655011" "00003165" "50" "1291" "0" "1291" "0" "c.1291G>A" "r.(?)" "p.(Gly431Arg)" "" "" "0000655012" "00003165" "30" "1727" "0" "1727" "0" "c.1727G>A" "r.(?)" "p.(Arg576His)" "" "" "0000689140" "00003165" "50" "47" "0" "47" "0" "c.47C>G" "r.(?)" "p.(Ala16Gly)" "" "" "0000719595" "00003165" "30" "2157" "0" "2157" "0" "c.2157C>T" "r.(?)" "p.(Ser719=)" "" "" "0000733511" "00003165" "70" "-11" "-13" "284" "0" "c.-11-13_284ins[?]" "r.?" "p.?" "" "" "0000764120" "00003165" "90" "88" "0" "117" "0" "c.88_117CAG[70]" "r.(88_117cag[70])" "p.(Gln30[70])" "3" "Gln[70]" "0000788412" "00003165" "50" "1241" "0" "1241" "0" "c.1241C>T" "r.(?)" "p.(Pro414Leu)" "9" "" "0000850403" "00003165" "50" "916" "0" "916" "0" "c.916A>T" "r.(?)" "p.(Ile306Phe)" "" "" "0000859121" "00003165" "10" "116" "0" "118" "0" "c.116_118del" "r.(?)" "p.(Gln39del)" "" "" "0000859122" "00003165" "10" "223" "0" "223" "0" "c.223A>G" "r.(?)" "p.(Met75Val)" "" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 35 "{{screeningid}}" "{{variantid}}" "0000149380" "0000242724" "0000149380" "0000242725" "0000149381" "0000242726" "0000149381" "0000242727" "0000149382" "0000242728" "0000149382" "0000242729" "0000235150" "0000477898" "0000235150" "0000477899" "0000250841" "0000580240" "0000263239" "0000593721" "0000263240" "0000593722" "0000263241" "0000593723" "0000263242" "0000593724" "0000263243" "0000593725" "0000263244" "0000593726" "0000263245" "0000593727" "0000263246" "0000593728" "0000263247" "0000593729" "0000263248" "0000593730" "0000263249" "0000593731" "0000263250" "0000593732" "0000263251" "0000593733" "0000263252" "0000593734" "0000263253" "0000593735" "0000263254" "0000593736" "0000263255" "0000593737" "0000263256" "0000593738" "0000263257" "0000593739" "0000263258" "0000593740" "0000263259" "0000593741" "0000263260" "0000593742" "0000263261" "0000593743" "0000335502" "0000733511" "0000363465" "0000764120" "0000376616" "0000788412"