### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = ATXN2)
# 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}}"
"ATXN2" "ataxin 2" "12" "q23-q24.1" "unknown" "NG_011572.3" "UD_132118661080" "" "https://www.LOVD.nl/ATXN2" "" "1" "10555" "6311" "601517" "1" "1" "1" "1" "A Parkinson\'s disease Mutation Database\r\nEstablishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/ATXN2_codingDNA.html" "1" "" "A Parkinson\'s disease Mutation Database" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2020-09-18 13:56:35" "00000" "2025-05-05 21:14:00"
## Transcripts ## Do not remove or alter this header ##
## Count = 1
"{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}"
"00003161" "ATXN2" "ataxin 2" "001" "NM_002973.3" "" "NP_002964.3" "" "" "" "-162" "4540" "3942" "112037480" "111890018" "" "0000-00-00 00:00:00" "" ""
## Diseases ## Do not remove or alter this header ##
## Count = 2
"{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}"
"00414" "PD" "Parkinson disease, susceptibility to" "AD;AR;Mu" "168600" "" "" "" "00006" "2014-06-15 21:26:13" "00006" "2023-10-27 16:16:06"
"01565" "SCA2;ALS13" "ataxia, spinocerebellar, type 2 (SCA-2, sclerosis, lateral, amyotrophic (ALS-13))" "AD" "183090" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{geneid}}" "{{diseaseid}}"
"ATXN2" "00414"
"ATXN2" "01565"
## Individuals ## Do not remove or alter this header ##
## Count = 13
"{{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}}"
"00104581" "" "" "" "2" "" "00006" "{PMID:Charles 2007:17568014}" "3-generation family, 2 affecteds (2M) and 1 possibly affeted (M)" "M" "no" "France" "" "0" "" "" "" "17568014-FamFPD-116"
"00104582" "" "" "" "4" "" "00006" "{PMID:Charles 2007:17568014}" "4-generation family, 4 affecteds (3F, M)" "F;M" "no" "France" "" "0" "" "" "" "17568014-FamSAL-755"
"00104583" "" "" "" "8" "" "00006" "{PMID:Charles 2007:17568014}" "3-generation family, 8 affecteds (3F, 5M)" "F;M" "no" "France" "" "0" "" "" "" "17568014-FamSAL-722"
"00104584" "" "" "" "9" "" "00006" "{PMID:Gwinn-Hardy 2000:10993999}" "5-generation family, 9 affecteds (2F, 7M)" "M" "no" "Taiwan" "" "0" "" "" "Chinese" "10993999-FamPat3004"
"00104702" "" "" "" "1" "" "00006" "{PMID:Yu 2011:21479228}, {DOI:Yu 2011:10.1371/journal.pone.0017951}" "" "" "" "United States" "" "0" "" "" "" "21479228_ConN11"
"00104703" "" "" "" "1" "" "00006" "{PMID:Yu 2011:21479228}, {DOI:Yu 2011:10.1371/journal.pone.0017951}" "" "" "" "United States" "" "0" "" "" "" "21479228_ConN12"
"00104704" "" "" "" "1" "" "00006" "{PMID:Yu 2011:21479228}, {DOI:Yu 2011:10.1371/journal.pone.0017951}" "" "" "" "United States" "" "0" "" "" "" "21479228_ConN13"
"00104705" "" "" "" "1" "" "00006" "{PMID:Yu 2011:21479228}, {DOI:Yu 2011:10.1371/journal.pone.0017951}" "" "" "" "United States" "" "0" "" "" "" "21479228_ConN14"
"00104706" "" "" "" "1" "" "00006" "{PMID:Yu 2011:21479228}, {DOI:Yu 2011:10.1371/journal.pone.0017951}" "" "" "" "United States" "" "0" "" "" "" "21479228_ConN15"
"00104707" "" "" "" "1" "" "00006" "{PMID:Yu 2011:21479228}, {DOI:Yu 2011:10.1371/journal.pone.0017951}" "" "" "" "United States" "" "0" "" "" "" "21479228_ConN16"
"00104708" "" "" "" "1" "" "00006" "{PMID:Yu 2011:21479228}, {DOI:Yu 2011:10.1371/journal.pone.0017951}" "" "" "" "United States" "" "0" "" "" "" "21479228_ConN22"
"00104709" "" "" "" "1" "" "00006" "{PMID:Yu 2011:21479228}, {DOI:Yu 2011:10.1371/journal.pone.0017951}" "" "" "" "United States" "" "0" "" "" "" "21479228_ConN23"
"00104710" "" "" "" "1" "" "00006" "{PMID:Yu 2011:21479228}, {DOI:Yu 2011:10.1371/journal.pone.0017951}" "" "" "" "United States" "" "0" "" "" "" "21479228_ConN24"
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 4
"{{individualid}}" "{{diseaseid}}"
"00104581" "00414"
"00104582" "00414"
"00104583" "00414"
"00104584" "00414"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00414, 01565
## Count = 4
"{{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}}"
"0000082499" "00414" "00104581" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" ""
"0000082500" "00414" "00104582" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" ""
"0000082501" "00414" "00104583" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" ""
"0000082502" "00414" "00104584" "00006" "Familial, autosomal dominant" "" "see paper; ..., mixed from prominent\r\nparkinsonism (with or without dopamine responsiveness and with little or no cerebellar findings) to less predominate cerebellar findings, with less parkinsonism" "" "" "" "" "" "" "" "" ""
## Screenings ## Do not remove or alter this header ##
## Count = 13
"{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}"
"0000105053" "00104581" "1" "00006" "00006" "2017-05-17 21:42:59" "" "" "PCR;SEQ" "DNA" "" ""
"0000105054" "00104582" "1" "00006" "00006" "2017-05-17 22:01:06" "" "" "PCR;SEQ" "DNA" "" ""
"0000105055" "00104583" "1" "00006" "00006" "2017-05-17 22:07:37" "" "" "PCR;SEQ" "DNA" "" ""
"0000105056" "00104584" "1" "00006" "00006" "2017-05-17 22:32:11" "" "" "PCR" "DNA" "" ""
"0000105174" "00104702" "1" "00006" "00006" "2017-05-19 23:25:31" "" "" "PCR;SEQ" "DNA" "" ""
"0000105175" "00104703" "1" "00006" "00006" "2017-05-19 23:25:31" "" "" "PCR;SEQ" "DNA" "" ""
"0000105176" "00104704" "1" "00006" "00006" "2017-05-19 23:25:31" "" "" "PCR;SEQ" "DNA" "" ""
"0000105177" "00104705" "1" "00006" "00006" "2017-05-19 23:25:31" "" "" "PCR;SEQ" "DNA" "" ""
"0000105178" "00104706" "1" "00006" "00006" "2017-05-19 23:25:31" "" "" "PCR;SEQ" "DNA" "" ""
"0000105179" "00104707" "1" "00006" "00006" "2017-05-19 23:25:31" "" "" "PCR;SEQ" "DNA" "" ""
"0000105180" "00104708" "1" "00006" "00006" "2017-05-19 23:25:31" "" "" "PCR;SEQ" "DNA" "" ""
"0000105181" "00104709" "1" "00006" "00006" "2017-05-19 23:25:31" "" "" "PCR;SEQ" "DNA" "" ""
"0000105182" "00104710" "1" "00006" "00006" "2017-05-19 23:25:31" "" "" "PCR;SEQ" "DNA" "" ""
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 13
"{{screeningid}}" "{{geneid}}"
"0000105053" "ATXN2"
"0000105054" "ATXN2"
"0000105055" "ATXN2"
"0000105056" "ATXN2"
"0000105174" "ATXN2"
"0000105175" "ATXN2"
"0000105176" "ATXN2"
"0000105177" "ATXN2"
"0000105178" "ATXN2"
"0000105179" "ATXN2"
"0000105180" "ATXN2"
"0000105181" "ATXN2"
"0000105182" "ATXN2"
## 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 = 100
"{{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}}"
"0000170322" "1" "90" "12" "112036778" "112036779" "" "0" "00006" "ATXN2_000001" "g.112036778_112036779ins[TT;112036754_112036793];112036797C>T" "" "{PMID:Charles 2007:17568014}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" ""
"0000170323" "1" "90" "12" "112036778" "112036779" "" "0" "00006" "ATXN2_000002" "g.112036778_112036779ins[TT;112036754_112036793];112036797_112036798ins112036768_112036782" "" "{PMID:Charles 2007:17568014}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" ""
"0000170324" "1" "90" "12" "112036781" "112036782" "" "0" "00006" "ATXN2_000003" "g.112036781_112036782ins[CTGT;112036768_112036796];112036797_112036798ins112036768_112036782" "" "{PMID:Charles 2007:17568014}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" ""
"0000170325" "10" "90" "12" "112036781" "112036782" "" "0" "00006" "ATXN2_000004" "g.112036781_112036782ins112036785_112036821;112036782_112036783insGC" "" "{PMID:Gwinn-Hardy 2000:10993999}" "" "CAG[36]" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" ""
"0000170326" "20" "10" "12" "112036782" "112036784" "del" "0" "00006" "ATXN2_000005" "g.112036782_112036784del" "" "{PMID:Gwinn-Hardy 2000:10993999}" "" "CAG[22]" "" "Germline" "no" "" "0" "" "" "g.111598978_111598980del" "" "benign" ""
"0000170449" "20" "30" "12" "112036767" "112036768" "" "0" "00006" "ATXN2_000006" "g.112036767_112036768ins112036782_112036793;112036797C>T" "" "{PMID:Yu 2011:21479228}, {DOI:Yu 2011:10.1371/journal.pone.0017951}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely benign" ""
"0000170450" "20" "30" "12" "112036767" "112036768" "" "0" "00006" "ATXN2_000006" "g.112036767_112036768ins112036782_112036793;112036797C>T" "" "{PMID:Yu 2011:21479228}, {DOI:Yu 2011:10.1371/journal.pone.0017951}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely benign" ""
"0000170451" "20" "30" "12" "112036767" "112036768" "" "0" "00006" "ATXN2_000006" "g.112036767_112036768ins112036782_112036793;112036797C>T" "" "{PMID:Yu 2011:21479228}, {DOI:Yu 2011:10.1371/journal.pone.0017951}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely benign" ""
"0000170452" "20" "30" "12" "112036767" "112036768" "" "0" "00006" "ATXN2_000006" "g.112036767_112036768ins112036782_112036793;112036797C>T" "" "{PMID:Yu 2011:21479228}, {DOI:Yu 2011:10.1371/journal.pone.0017951}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely benign" ""
"0000170453" "20" "30" "12" "112036767" "112036768" "" "0" "00006" "ATXN2_000006" "g.112036767_112036768ins112036782_112036793;112036797C>T" "" "{PMID:Yu 2011:21479228}, {DOI:Yu 2011:10.1371/journal.pone.0017951}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely benign" ""
"0000170454" "20" "30" "12" "112036767" "112036768" "" "0" "00006" "ATXN2_000006" "g.112036767_112036768ins112036782_112036793;112036797C>T" "" "{PMID:Yu 2011:21479228}, {DOI:Yu 2011:10.1371/journal.pone.0017951}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely benign" ""
"0000170455" "20" "30" "12" "112036767" "112036768" "" "0" "00006" "ATXN2_000007" "g.112036767_112036768ins112036779_112036796;112036797C>T" "" "{PMID:Yu 2011:21479228}, {DOI:Yu 2011:10.1371/journal.pone.0017951}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely benign" ""
"0000170456" "20" "30" "12" "112036755" "112036756" "" "0" "00006" "ATXN2_000008" "g.112036755_112036756ins112036782_112036805;112036797C>T" "" "{PMID:Yu 2011:21479228}, {DOI:Yu 2011:10.1371/journal.pone.0017951}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely benign" ""
"0000170457" "20" "30" "12" "112036753" "112036754" "" "0" "00006" "ATXN2_000009" "g.112036753_112036754ins112036782_112036808;112036797C>T" "" "{PMID:Yu 2011:21479228}, {DOI:Yu 2011:10.1371/journal.pone.0017951}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely benign" ""
"0000247093" "0" "10" "12" "111992045" "111992045" "del" "0" "02330" "ATXN2_000020" "g.111992045del" "" "" "" "ATXN2(NM_002973.4):c.289-11delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.111554241del" "" "benign" ""
"0000250260" "0" "30" "12" "111992045" "111992045" "del" "0" "02329" "ATXN2_000020" "g.111992045del" "" "" "" "ATXN2(NM_002973.4):c.289-11delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.111554241del" "" "likely benign" ""
"0000250376" "0" "30" "12" "112036831" "112036831" "subst" "0" "02329" "ATXN2_000028" "g.112036831A>G" "" "" "" "ATXN2(NM_002973.4):c.8T>C (p.L3P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.111599027A>G" "" "likely benign" ""
"0000256213" "0" "50" "12" "111893984" "111893984" "subst" "3.65453E-5" "01943" "ATXN2_000010" "g.111893984A>G" "" "" "" "ATXN2(NM_002973.3):c.3593T>C (p.L1198P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.111456180A>G" "" "VUS" ""
"0000258484" "0" "10" "12" "112037000" "112037000" "subst" "0.768519" "02330" "ATXN2_000030" "g.112037000G>C" "" "" "" "ATXN2(NM_002973.4):c.-162C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.111599196G>C" "" "benign" ""
"0000258485" "0" "10" "12" "111894072" "111894072" "subst" "0.209806" "02330" "ATXN2_000011" "g.111894072C>T" "" "" "" "ATXN2(NM_002973.4):c.3037-12G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.111456268C>T" "" "benign" ""
"0000258486" "0" "10" "12" "112036929" "112036929" "subst" "0.787339" "02330" "ATXN2_000029" "g.112036929G>A" "" "" "" "ATXN2(NM_002973.4):c.-91C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.111599125G>A" "" "benign" ""
"0000258487" "0" "10" "12" "112036797" "112036797" "subst" "0" "02330" "ATXN2_000026" "g.112036797C>T" "" "" "" "ATXN2(NM_002973.4):c.42G>A (p.Q14=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.111598993C>T" "" "benign" ""
"0000258488" "0" "10" "12" "112036782" "112036784" "del" "0" "02330" "ATXN2_000005" "g.112036782_112036784del" "" "" "" "ATXN2(NM_002973.4):c.57_59delACA (p.Q28del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.111598978_111598980del" "" "benign" ""
"0000258489" "0" "10" "12" "112036782" "112036782" "subst" "0" "02330" "ATXN2_000025" "g.112036782T>C" "" "" "" "ATXN2(NM_002973.4):c.57A>G (p.Q19=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.111598978T>C" "" "benign" ""
"0000258493" "0" "10" "12" "112036779" "112036781" "del" "0" "02330" "ATXN2_000021" "g.112036779_112036781del" "" "" "" "ATXN2(NM_002973.4):c.83_85delAGC (p.Q28del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.111598975_111598977del" "" "benign" ""
"0000260278" "0" "10" "12" "112037000" "112037000" "subst" "0.768519" "02329" "ATXN2_000030" "g.112037000G>C" "" "" "" "ATXN2(NM_002973.4):c.-162C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.111599196G>C" "" "benign" ""
"0000260279" "0" "30" "12" "111894072" "111894072" "subst" "0.209806" "02329" "ATXN2_000011" "g.111894072C>T" "" "" "" "ATXN2(NM_002973.4):c.3037-12G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.111456268C>T" "" "likely benign" ""
"0000260280" "0" "10" "12" "112036929" "112036929" "subst" "0.787339" "02329" "ATXN2_000029" "g.112036929G>A" "" "" "" "ATXN2(NM_002973.4):c.-91C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.111599125G>A" "" "benign" ""
"0000260281" "0" "30" "12" "112036800" "112036800" "subst" "0" "02329" "ATXN2_000027" "g.112036800C>T" "" "" "" "ATXN2(NM_002973.4):c.39G>A (p.Q13=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.111598996C>T" "" "likely benign" ""
"0000260282" "0" "30" "12" "112036797" "112036797" "subst" "0" "02329" "ATXN2_000026" "g.112036797C>T" "" "" "" "ATXN2(NM_002973.4):c.42G>A (p.Q14=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.111598993C>T" "" "likely benign" ""
"0000260283" "0" "30" "12" "112036782" "112036782" "subst" "0" "02329" "ATXN2_000025" "g.112036782T>C" "" "" "" "ATXN2(NM_002973.4):c.57A>G (p.Q19=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.111598978T>C" "" "likely benign" ""
"0000260284" "0" "30" "12" "112036779" "112036779" "subst" "0" "02329" "ATXN2_000024" "g.112036779C>T" "" "" "" "ATXN2(NM_002973.4):c.60G>A (p.Q20=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.111598975C>T" "" "likely benign" ""
"0000260285" "0" "30" "12" "112036779" "112036781" "del" "0" "02329" "ATXN2_000021" "g.112036779_112036781del" "" "" "" "ATXN2(NM_002973.4):c.83_85delAGC (p.Q28del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.111598975_111598977del" "" "likely benign" ""
"0000261316" "0" "30" "12" "111948306" "111948306" "subst" "4.4669E-5" "02326" "ATXN2_000015" "g.111948306G>A" "" "" "" "ATXN2(NM_002973.4):c.1639C>T (p.L547F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.111510502G>A" "" "likely benign" ""
"0000261317" "0" "30" "12" "111923455" "111923455" "subst" "0" "02326" "ATXN2_000013" "g.111923455G>A" "" "" "" "ATXN2(NM_002973.4):c.2457+62C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.111485651G>A" "" "likely benign" ""
"0000261318" "0" "30" "12" "111902514" "111902514" "subst" "0.00083733" "02326" "ATXN2_000012" "g.111902514G>A" "" "" "" "ATXN2(NM_002973.3):c.3322C>T (p.P1108S), ATXN2(NM_002973.4):c.2842C>T (p.P948S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.111464710G>A" "" "likely benign" ""
"0000261319" "0" "10" "12" "111992045" "111992045" "dup" "0" "02326" "ATXN2_000017" "g.111992045dup" "" "" "" "ATXN2(NM_002973.4):c.289-11dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.111554241dup" "" "benign" ""
"0000308024" "0" "10" "12" "111885372" "111885376" "del" "0" "01943" "SH2B3_000006" "g.111885372_111885376del" "" "" "" "SH2B3(NM_005475.2):c.1236+24_1236+28delTGGGG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.111447568_111447572del" "" "benign" ""
"0000344510" "0" "50" "12" "111895062" "111895062" "subst" "0" "02327" "ATXN2_000018" "g.111895062G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.111457258G>A" "" "VUS" ""
"0000350842" "0" "50" "12" "111962993" "111962993" "subst" "0" "02327" "ATXN2_000019" "g.111962993T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.111525189T>A" "" "VUS" ""
"0000546592" "0" "30" "12" "111885187" "111885187" "subst" "8.1324E-6" "01943" "ATXN2_000031" "g.111885187C>T" "" "" "" "SH2B3(NM_005475.2):c.1075C>T (p.L359=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.111447383C>T" "" "likely benign" ""
"0000546593" "0" "30" "12" "111885372" "111885376" "dup" "0" "01943" "ATXN2_000032" "g.111885372_111885376dup" "" "" "" "SH2B3(NM_005475.2):c.1236+24_1236+28dupTGGGG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.111447568_111447572dup" "" "likely benign" ""
"0000546594" "0" "30" "12" "111885832" "111885855" "del" "0" "02326" "ATXN2_000033" "g.111885832_111885855del" "" "" "" "SH2B3(NM_005475.2):c.1454_1477delATTCAGAGTCCCTTCCTCACTGGG (p.D485_W492del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.111448028_111448051del" "" "likely benign" ""
"0000546595" "0" "50" "12" "111886029" "111886029" "subst" "0.000105684" "02325" "ATXN2_000034" "g.111886029C>T" "" "" "" "SH2B3(NM_005475.3):c.1651C>T (p.R551W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.111448225C>T" "" "VUS" ""
"0000546596" "0" "50" "12" "111886087" "111886087" "subst" "0" "01943" "ATXN2_000035" "g.111886087A>C" "" "" "" "SH2B3(NM_005475.2):c.1709A>C (p.N570T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.111448283A>C" "" "VUS" ""
"0000546597" "0" "30" "12" "111893869" "111893869" "subst" "0.00354489" "01943" "ATXN2_000036" "g.111893869C>T" "" "" "" "ATXN2(NM_002973.3):c.3708G>A (p.A1236=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.111456065C>T" "" "likely benign" ""
"0000546598" "0" "30" "12" "111908545" "111908545" "subst" "0.00282137" "01943" "ATXN2_000037" "g.111908545T>C" "" "" "" "ATXN2(NM_002973.3):c.3000A>G (p.V1000=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.111470741T>C" "" "likely benign" ""
"0000546599" "0" "50" "12" "111923594" "111923594" "subst" "0.000483571" "01943" "ATXN2_000038" "g.111923594G>A" "" "" "" "ATXN2(NM_002973.3):c.2860C>T (p.P954S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.111485790G>A" "" "VUS" ""
"0000546600" "0" "30" "12" "111926414" "111926414" "subst" "8.12665E-6" "01943" "ATXN2_000039" "g.111926414G>T" "" "" "" "ATXN2(NM_002973.3):c.2586C>A (p.P862=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.111488610G>T" "" "likely benign" ""
"0000546601" "0" "30" "12" "111948276" "111948276" "subst" "2.03037E-5" "01943" "ATXN2_000040" "g.111948276T>C" "" "" "" "ATXN2(NM_002973.3):c.2149A>G (p.T717A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.111510472T>C" "" "likely benign" ""
"0000546602" "0" "50" "12" "111948320" "111948320" "subst" "4.87314E-5" "01943" "ATXN2_000041" "g.111948320G>C" "" "" "" "ATXN2(NM_002973.3):c.2105C>G (p.P702R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.111510516G>C" "" "VUS" ""
"0000546603" "0" "30" "12" "111963049" "111963049" "subst" "4.8815E-5" "01943" "ATXN2_000042" "g.111963049C>T" "" "" "" "ATXN2(NM_002973.3):c.1123G>A (p.D375N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.111525245C>T" "" "likely benign" ""
"0000546604" "0" "10" "12" "111992045" "111992045" "dup" "0" "02330" "ATXN2_000017" "g.111992045dup" "" "" "" "ATXN2(NM_002973.4):c.289-11dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.111554241dup" "" "benign" ""
"0000546605" "0" "10" "12" "111992045" "111992045" "dup" "0" "02329" "ATXN2_000017" "g.111992045dup" "" "" "" "ATXN2(NM_002973.4):c.289-11dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.111554241dup" "" "benign" ""
"0000546606" "0" "30" "12" "112036695" "112036695" "subst" "0" "01943" "ATXN2_000043" "g.112036695G>T" "" "" "" "ATXN2(NM_002973.3):c.624C>A (p.P208=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.111598891G>T" "" "likely benign" ""
"0000546609" "0" "30" "12" "112036778" "112036779" "ins" "0" "02330" "ATXN2_000046" "g.112036778_112036779insTTG" "" "" "" "ATXN2(NM_001372574.1):c.62_63insACA (p.(Gln28dup)), ATXN2(NM_002973.4):c.62_63insACA (p.Q28dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.111598974_111598975insTTG" "" "likely benign" ""
"0000546611" "0" "30" "12" "112037075" "112037075" "subst" "0" "01943" "ATXN2_000048" "g.112037075T>C" "" "" "" "ATXN2(NM_002973.3):c.244A>G (p.N82D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.111599271T>C" "" "likely benign" ""
"0000546612" "0" "50" "12" "112037120" "112037120" "subst" "0" "01943" "ATXN2_000049" "g.112037120G>A" "" "" "" "ATXN2(NM_002973.3):c.199C>T (p.Q67*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.111599316G>A" "" "VUS" ""
"0000613863" "0" "50" "12" "111885574" "111885574" "subst" "4.87523E-5" "01943" "ATXN2_000050" "g.111885574G>A" "" "" "" "SH2B3(NM_005475.2):c.1351G>A (p.G451S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.111447770G>A" "" "VUS" ""
"0000613864" "0" "30" "12" "111885856" "111885856" "subst" "0" "01943" "ATXN2_000051" "g.111885856G>C" "" "" "" "SH2B3(NM_005475.2):c.1478G>C (p.G493A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.111448052G>C" "" "likely benign" ""
"0000613865" "0" "30" "12" "112037273" "112037273" "subst" "0" "01943" "ATXN2_000053" "g.112037273C>G" "" "" "" "ATXN2(NM_002973.3):c.46G>C (p.E16Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.111599469C>G" "" "likely benign" ""
"0000622787" "0" "30" "12" "111885372" "111885376" "del" "0" "02326" "SH2B3_000006" "g.111885372_111885376del" "" "" "" "SH2B3(NM_005475.2):c.1236+24_1236+28delTGGGG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.111447568_111447572del" "" "likely benign" ""
"0000622788" "0" "50" "12" "111954062" "111954062" "subst" "1.51115E-5" "01943" "ATXN2_000052" "g.111954062G>A" "" "" "" "ATXN2(NM_002973.3):c.1751C>T (p.P584L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.111516258G>A" "" "VUS" ""
"0000656987" "0" "30" "12" "111926309" "111926309" "subst" "0.000557654" "01943" "ATXN2_000054" "g.111926309G>A" "" "" "" "ATXN2(NM_002973.3):c.2691C>T (p.D897=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.111488505G>A" "" "likely benign" ""
"0000679400" "0" "30" "12" "111885367" "111885376" "del" "0" "01943" "ATXN2_000055" "g.111885367_111885376del" "" "" "" "SH2B3(NM_005475.2):c.1236+19_1236+28delTGGGGTGGGG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000679401" "0" "50" "12" "111895122" "111895122" "subst" "4.88699E-5" "01943" "ATXN2_000056" "g.111895122C>T" "" "" "" "ATXN2(NM_002973.3):c.3412G>A (p.A1138T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000691245" "0" "30" "12" "111885591" "111885591" "subst" "0.000333103" "01943" "ATXN2_000057" "g.111885591C>T" "" "" "" "SH2B3(NM_005475.2):c.1368C>T (p.V456=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000691246" "0" "50" "12" "111926314" "111926314" "subst" "0" "01943" "ATXN2_000058" "g.111926314T>C" "" "" "" "ATXN2(NM_002973.3):c.2686A>G (p.K896E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000723834" "0" "50" "12" "111885804" "111885804" "subst" "0.000372829" "01943" "ATXN2_000059" "g.111885804C>T" "" "" "" "SH2B3(NM_005475.2):c.1426C>T (p.L476F, p.(Leu476Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000723835" "0" "50" "12" "111947745" "111947745" "subst" "0.000146489" "01943" "ATXN2_000060" "g.111947745T>C" "" "" "" "ATXN2(NM_002973.3):c.2294A>G (p.N765S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000723836" "0" "30" "12" "112036979" "112036979" "subst" "0" "01943" "ATXN2_000061" "g.112036979G>A" "" "" "" "ATXN2(NM_002973.3):c.340C>T (p.P114S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000723837" "0" "30" "12" "112037289" "112037289" "subst" "0" "01943" "ATXN2_000062" "g.112037289A>G" "" "" "" "ATXN2(NM_002973.3):c.30T>C (p.S10=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000805528" "0" "30" "12" "111885372" "111885376" "dup" "0" "02326" "ATXN2_000032" "g.111885372_111885376dup" "" "" "" "SH2B3(NM_005475.2):c.1236+24_1236+28dupTGGGG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000805529" "0" "50" "12" "111886074" "111886074" "subst" "0.000383054" "02325" "ATXN2_000063" "g.111886074C>T" "" "" "" "SH2B3(NM_005475.3):c.1696C>T (p.R566W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000805530" "0" "50" "12" "111907981" "111907981" "subst" "2.03112E-5" "01943" "ATXN2_000064" "g.111907981C>T" "" "" "" "ATXN2(NM_002973.3):c.3247G>A (p.A1083T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000805531" "0" "50" "12" "112036916" "112036916" "subst" "0" "01943" "ATXN2_000065" "g.112036916G>T" "" "" "" "ATXN2(NM_002973.3):c.403C>A (p.R135S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000805532" "0" "30" "12" "112036978" "112036978" "subst" "0" "01943" "ATXN2_000066" "g.112036978G>A" "" "" "" "ATXN2(NM_002973.3):c.341C>T (p.P114L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000853265" "0" "30" "12" "111885984" "111885984" "subst" "0.000739819" "01943" "ATXN2_000069" "g.111885984G>A" "" "" "" "SH2B3(NM_005475.2):c.1606G>A (p.A536T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000853266" "0" "50" "12" "111902514" "111902514" "subst" "0.00083733" "01943" "ATXN2_000012" "g.111902514G>A" "" "" "" "ATXN2(NM_002973.3):c.3322C>T (p.P1108S), ATXN2(NM_002973.4):c.2842C>T (p.P948S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000853267" "0" "50" "12" "111956226" "111956226" "subst" "0.000929798" "01943" "ATXN2_000070" "g.111956226T>C" "" "" "" "ATXN2(NM_002973.3):c.1472A>G (p.N491S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000862804" "0" "30" "12" "111885300" "111885300" "subst" "6.17391E-5" "01943" "ATXN2_000067" "g.111885300G>A" "" "" "" "SH2B3(NM_005475.2):c.1188G>A (p.T396=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000862805" "0" "30" "12" "111885974" "111885974" "subst" "4.06458E-6" "01943" "ATXN2_000068" "g.111885974C>T" "" "" "" "SH2B3(NM_005475.2):c.1596C>T (p.P532=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000890275" "0" "30" "12" "111885124" "111885128" "del" "0" "02326" "ATXN2_000071" "g.111885124_111885128del" "" "" "" "SH2B3(NM_005475.2):c.1022-10_1022-6delTATCT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000890276" "0" "30" "12" "111885162" "111885162" "subst" "0.000280451" "02326" "ATXN2_000072" "g.111885162G>A" "" "" "" "SH2B3(NM_005475.2):c.1050G>A (p.P350=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000890277" "0" "30" "12" "111885892" "111885892" "subst" "3.24965E-5" "02326" "ATXN2_000073" "g.111885892G>A" "" "" "" "SH2B3(NM_005475.2):c.1514G>A (p.G505D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000913746" "0" "30" "12" "111885879" "111885879" "subst" "8.12301E-6" "02326" "ATXN2_000074" "g.111885879C>T" "" "" "" "SH2B3(NM_005475.2):c.1501C>T (p.L501F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000913747" "0" "30" "12" "112036781" "112036785" "del" "0" "02325" "ATXN2_000075" "g.112036781_112036785del" "" "" "" "ATXN2(NM_002973.4):c.54_58delGCAAC (p.Q19Afs*69)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000930012" "0" "50" "12" "111885295" "111885295" "subst" "0.000147917" "02325" "ATXN2_000076" "g.111885295G>A" "" "" "" "SH2B3(NM_005475.3):c.1183G>A (p.E395K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000930013" "0" "30" "12" "111886019" "111886019" "subst" "0" "02326" "ATXN2_000077" "g.111886019G>A" "" "" "" "SH2B3(NM_005475.2):c.1641G>A (p.V547=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000966694" "0" "70" "12" "111885295" "111885295" "subst" "0.000147917" "02327" "ATXN2_000076" "g.111885295G>A" "" "" "" "SH2B3(NM_005475.3):c.1183G>A (p.E395K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000966697" "0" "30" "12" "112036778" "112036779" "ins" "0" "02329" "ATXN2_000078" "g.112036778_112036779insTTGCTGCTGCTGCTGCTGCTG" "" "" "" "ATXN2(NM_002973.4):c.80_81insACAGCAGCAGCAGCAGCAGCA (p.Q22_Q28dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000980000" "0" "50" "12" "111885466" "111885466" "subst" "4.91977E-5" "02325" "ATXN2_000080" "g.111885466C>T" "" "" "" "SH2B3(NM_005475.3):c.1243C>T (p.R415C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000980001" "0" "30" "12" "112036778" "112036779" "ins" "0" "01804" "ATXN2_000046" "g.112036778_112036779insTTG" "" "" "" "ATXN2(NM_001372574.1):c.62_63insACA (p.(Gln28dup)), ATXN2(NM_002973.4):c.62_63insACA (p.Q28dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000980002" "0" "30" "12" "112036781" "112036782" "ins" "0" "01804" "ATXN2_000081" "g.112036781_112036782insCTGTTGCTGCTGCTGCTG" "" "" "" "ATXN2(NM_001372574.1):c.71_72insACAGCAGCAGCAGCAGCA (p.(Gln23_Gln28dup))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000999630" "0" "30" "12" "111885804" "111885804" "subst" "0.000372829" "01804" "ATXN2_000059" "g.111885804C>T" "" "" "" "SH2B3(NM_005475.2):c.1426C>T (p.L476F, p.(Leu476Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000999631" "0" "30" "12" "112036796" "112036797" "del" "0" "01804" "ATXN2_000082" "g.112036796_112036797del" "" "" "" "ATXN2(NM_002973.3):c.522_523delGC (p.(Gln175fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001038946" "0" "50" "12" "111923670" "111923670" "subst" "0.000167571" "01804" "ATXN2_000083" "g.111923670C>T" "" "" "" "ATXN2(NM_001372574.1):c.2305-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001038947" "0" "30" "12" "112036694" "112036694" "subst" "0.000799734" "01804" "ATXN2_000084" "g.112036694C>T" "" "" "" "ATXN2(NM_001372574.1):c.145G>A (p.(Ala49Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001038948" "0" "30" "12" "112036785" "112036785" "subst" "0" "01804" "ATXN2_000085" "g.112036785C>G" "" "" "" "ATXN2(NM_001372574.1):c.54G>C (p.(Gln18His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001038949" "0" "50" "12" "112036796" "112036797" "ins" "0" "01804" "ATXN2_000086" "g.112036796_112036797insTTG" "" "" "" "ATXN2(NM_001372574.1):c.44_45insACA (p.(Gln28dup))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
## Variants_On_Transcripts ## Do not remove or alter this header ##
## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene.
## Note: Only showing Variants_On_Transcript columns active for Genes ATXN2
## Count = 100
"{{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}}"
"0000170322" "00003161" "90" "522" "0" "522" "0" "c.522G>A;540_541ins[526_565;AA]" "r.(?)" "p.(Gln175_Gln188dup)" "1" "Gln[37] 8-1-9-1-4-1-4-1-8"
"0000170323" "00003161" "90" "521" "0" "522" "0" "c.521_522ins537_551;540_541ins[526_551;A]" "r.(?)" "p.(Gln175_Gln188dup)" "1" "Gln[37] 8-1-9-1-4-1-4-1-8"
"0000170324" "00003161" "90" "521" "0" "522" "0" "c.521_522ins537_551;537_538ins[523_551;ACAG]" "r.(?)" "p.(Gln173_Gln188dup)" "1" "Gln[39] 8-1-4-1-4-1-9-1-10"
"0000170325" "00003161" "90" "536" "0" "537" "0" "c.536_537insGC;537_538ins498_534" "r.(?)" "p.(Gln176_Gln188dup)" "1" "Gln[36] 36"
"0000170326" "00003161" "10" "537" "0" "539" "0" "c.537_539del" "r.(?)" "p.(Gln188del)" "1" "Gln[22] 22"
"0000170449" "00003161" "10" "522" "0" "522" "0" "c.522G>A;551_552ins526_537" "r.(?)" "p.(Gln185_Gln188dup)" "1" "Gln[27] 8-1-4-1-4-1-8"
"0000170450" "00003161" "10" "522" "0" "522" "0" "c.522G>A;551_552ins526_537" "r.(?)" "p.(Gln185_Gln188dup)" "1" "Gln[27] 8-1-4-1-4-1-8"
"0000170451" "00003161" "10" "522" "0" "522" "0" "c.522G>A;551_552ins526_537" "r.(?)" "p.(Gln185_Gln188dup)" "1" "Gln[27] 8-1-4-1-4-1-8"
"0000170452" "00003161" "10" "522" "0" "522" "0" "c.522G>A;551_552ins526_537" "r.(?)" "p.(Gln185_Gln188dup)" "1" "Gln[27] 8-1-4-1-4-1-8"
"0000170453" "00003161" "10" "522" "0" "522" "0" "c.522G>A;551_552ins526_537" "r.(?)" "p.(Gln185_Gln188dup)" "1" "Gln[27] 8-1-4-1-4-1-8"
"0000170454" "00003161" "10" "522" "0" "522" "0" "c.522G>A;551_552ins526_537" "r.(?)" "p.(Gln185_Gln188dup)" "1" "Gln[27] 8-1-4-1-4-1-8"
"0000170455" "00003161" "30" "522" "0" "522" "0" "c.522G>A;551_552ins523_540" "r.(?)" "p.(Gln183_Gln188dup)" "1" "Gln[29] 8-1-4-1-4-1-10"
"0000170456" "00003161" "30" "522" "0" "522" "0" "c.522G>A;563_564ins514_537" "r.(?)" "p.(Gln182_Gln188dup)" "1" "Gln[30] 21-1-8"
"0000170457" "00003161" "30" "522" "0" "522" "0" "c.522G>A;565_566ins511_537" "r.(?)" "p.(Gln180_Gln188dup)" "1" "Gln[32] 13-1-8-1-9"
"0000247093" "00003161" "10" "769" "-11" "769" "-11" "c.769-11del" "r.(=)" "p.(=)" "" ""
"0000250260" "00003161" "30" "769" "-11" "769" "-11" "c.769-11del" "r.(=)" "p.(=)" "" ""
"0000250376" "00003161" "30" "488" "0" "488" "0" "c.488T>C" "r.(?)" "p.(Leu163Pro)" "" ""
"0000256213" "00003161" "50" "3593" "0" "3593" "0" "c.3593T>C" "r.(?)" "p.(Leu1198Pro)" "" ""
"0000258484" "00003161" "10" "319" "0" "319" "0" "c.319C>G" "r.(?)" "p.(Leu107Val)" "" ""
"0000258485" "00003161" "10" "3517" "-12" "3517" "-12" "c.3517-12G>A" "r.(=)" "p.(=)" "" ""
"0000258486" "00003161" "10" "390" "0" "390" "0" "c.390C>T" "r.(?)" "p.(Arg130=)" "" ""
"0000258487" "00003161" "10" "522" "0" "522" "0" "c.522G>A" "r.(?)" "p.(Gln174=)" "" ""
"0000258488" "00003161" "10" "537" "0" "539" "0" "c.537_539del" "r.(?)" "p.(Gln188del)" "" ""
"0000258489" "00003161" "10" "537" "0" "537" "0" "c.537A>G" "r.(?)" "p.(Gln179=)" "" ""
"0000258493" "00003161" "10" "563" "0" "565" "0" "c.563_565del" "r.(?)" "p.(Gln188del)" "" ""
"0000260278" "00003161" "10" "319" "0" "319" "0" "c.319C>G" "r.(?)" "p.(Leu107Val)" "" ""
"0000260279" "00003161" "30" "3517" "-12" "3517" "-12" "c.3517-12G>A" "r.(=)" "p.(=)" "" ""
"0000260280" "00003161" "10" "390" "0" "390" "0" "c.390C>T" "r.(?)" "p.(Arg130=)" "" ""
"0000260281" "00003161" "30" "519" "0" "519" "0" "c.519G>A" "r.(?)" "p.(Gln173=)" "" ""
"0000260282" "00003161" "30" "522" "0" "522" "0" "c.522G>A" "r.(?)" "p.(Gln174=)" "" ""
"0000260283" "00003161" "30" "537" "0" "537" "0" "c.537A>G" "r.(?)" "p.(Gln179=)" "" ""
"0000260284" "00003161" "30" "540" "0" "540" "0" "c.540G>A" "r.(?)" "p.(Gln180=)" "" ""
"0000260285" "00003161" "30" "563" "0" "565" "0" "c.563_565del" "r.(?)" "p.(Gln188del)" "" ""
"0000261316" "00003161" "30" "2119" "0" "2119" "0" "c.2119C>T" "r.(?)" "p.(Leu707Phe)" "" ""
"0000261317" "00003161" "30" "2937" "62" "2937" "62" "c.2937+62C>T" "r.(=)" "p.(=)" "" ""
"0000261318" "00003161" "30" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Pro1108Ser)" "" ""
"0000261319" "00003161" "10" "769" "-11" "769" "-11" "c.769-11dup" "r.(=)" "p.(=)" "" ""
"0000308024" "00003161" "10" "9202" "0" "9206" "0" "c.*5260_*5264del" "r.(=)" "p.(=)" "" ""
"0000344510" "00003161" "50" "3472" "0" "3472" "0" "c.3472C>T" "r.(?)" "p.(Gln1158Ter)" "" ""
"0000350842" "00003161" "50" "1176" "3" "1176" "3" "c.1176+3A>T" "r.spl?" "p.?" "" ""
"0000546592" "00003161" "30" "9371" "0" "9371" "0" "c.*5429G>A" "r.(=)" "p.(=)" "" ""
"0000546593" "00003161" "30" "9202" "0" "9206" "0" "c.*5260_*5264dup" "r.(=)" "p.(=)" "" ""
"0000546594" "00003161" "30" "8719" "0" "8742" "0" "c.*4777_*4800del" "r.(=)" "p.(=)" "" ""
"0000546595" "00003161" "50" "8529" "0" "8529" "0" "c.*4587G>A" "r.(=)" "p.(=)" "" ""
"0000546596" "00003161" "50" "8471" "0" "8471" "0" "c.*4529T>G" "r.(=)" "p.(=)" "" ""
"0000546597" "00003161" "30" "3708" "0" "3708" "0" "c.3708G>A" "r.(?)" "p.(Ala1236=)" "" ""
"0000546598" "00003161" "30" "3000" "0" "3000" "0" "c.3000A>G" "r.(?)" "p.(Val1000=)" "" ""
"0000546599" "00003161" "50" "2860" "0" "2860" "0" "c.2860C>T" "r.(?)" "p.(Pro954Ser)" "" ""
"0000546600" "00003161" "30" "2586" "0" "2586" "0" "c.2586C>A" "r.(?)" "p.(Pro862=)" "" ""
"0000546601" "00003161" "30" "2149" "0" "2149" "0" "c.2149A>G" "r.(?)" "p.(Thr717Ala)" "" ""
"0000546602" "00003161" "50" "2105" "0" "2105" "0" "c.2105C>G" "r.(?)" "p.(Pro702Arg)" "" ""
"0000546603" "00003161" "30" "1123" "0" "1123" "0" "c.1123G>A" "r.(?)" "p.(Asp375Asn)" "" ""
"0000546604" "00003161" "10" "769" "-11" "769" "-11" "c.769-11dup" "r.(=)" "p.(=)" "" ""
"0000546605" "00003161" "10" "769" "-11" "769" "-11" "c.769-11dup" "r.(=)" "p.(=)" "" ""
"0000546606" "00003161" "30" "624" "0" "624" "0" "c.624C>A" "r.(?)" "p.(Pro208=)" "" ""
"0000546609" "00003161" "30" "542" "0" "543" "0" "c.542_543insACA" "r.(?)" "p.(Gln188dup)" "" ""
"0000546611" "00003161" "30" "244" "0" "244" "0" "c.244A>G" "r.(?)" "p.(Asn82Asp)" "" ""
"0000546612" "00003161" "50" "199" "0" "199" "0" "c.199C>T" "r.(?)" "p.(Gln67Ter)" "" ""
"0000613863" "00003161" "50" "8984" "0" "8984" "0" "c.*5042C>T" "r.(=)" "p.(=)" "" ""
"0000613864" "00003161" "30" "8702" "0" "8702" "0" "c.*4760C>G" "r.(=)" "p.(=)" "" ""
"0000613865" "00003161" "30" "46" "0" "46" "0" "c.46G>C" "r.(?)" "p.(Glu16Gln)" "" ""
"0000622787" "00003161" "30" "9202" "0" "9206" "0" "c.*5260_*5264del" "r.(=)" "p.(=)" "" ""
"0000622788" "00003161" "50" "1751" "0" "1751" "0" "c.1751C>T" "r.(?)" "p.(Pro584Leu)" "" ""
"0000656987" "00003161" "30" "2691" "0" "2691" "0" "c.2691C>T" "r.(?)" "p.(Asp897=)" "" ""
"0000679400" "00003161" "30" "9197" "0" "9206" "0" "c.*5255_*5264del" "r.(=)" "p.(=)" "" ""
"0000679401" "00003161" "50" "3412" "0" "3412" "0" "c.3412G>A" "r.(?)" "p.(Ala1138Thr)" "" ""
"0000691245" "00003161" "30" "8967" "0" "8967" "0" "c.*5025G>A" "r.(=)" "p.(=)" "" ""
"0000691246" "00003161" "50" "2686" "0" "2686" "0" "c.2686A>G" "r.(?)" "p.(Lys896Glu)" "" ""
"0000723834" "00003161" "50" "8754" "0" "8754" "0" "c.*4812G>A" "r.(=)" "p.(=)" "" ""
"0000723835" "00003161" "50" "2294" "0" "2294" "0" "c.2294A>G" "r.(?)" "p.(Asn765Ser)" "" ""
"0000723836" "00003161" "30" "340" "0" "340" "0" "c.340C>T" "r.(?)" "p.(Pro114Ser)" "" ""
"0000723837" "00003161" "30" "30" "0" "30" "0" "c.30T>C" "r.(?)" "p.(Ser10=)" "" ""
"0000805528" "00003161" "30" "9202" "0" "9206" "0" "c.*5260_*5264dup" "r.(=)" "p.(=)" "" ""
"0000805529" "00003161" "50" "8484" "0" "8484" "0" "c.*4542G>A" "r.(=)" "p.(=)" "" ""
"0000805530" "00003161" "50" "3247" "0" "3247" "0" "c.3247G>A" "r.(?)" "p.(Ala1083Thr)" "" ""
"0000805531" "00003161" "50" "403" "0" "403" "0" "c.403C>A" "r.(?)" "p.(Arg135Ser)" "" ""
"0000805532" "00003161" "30" "341" "0" "341" "0" "c.341C>T" "r.(?)" "p.(Pro114Leu)" "" ""
"0000853265" "00003161" "30" "8574" "0" "8574" "0" "c.*4632C>T" "r.(=)" "p.(=)" "" ""
"0000853266" "00003161" "50" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Pro1108Ser)" "" ""
"0000853267" "00003161" "50" "1472" "0" "1472" "0" "c.1472A>G" "r.(?)" "p.(Asn491Ser)" "" ""
"0000862804" "00003161" "30" "9258" "0" "9258" "0" "c.*5316C>T" "r.(=)" "p.(=)" "" ""
"0000862805" "00003161" "30" "8584" "0" "8584" "0" "c.*4642G>A" "r.(=)" "p.(=)" "" ""
"0000890275" "00003161" "30" "9434" "0" "9438" "0" "c.*5492_*5496del" "r.(=)" "p.(=)" "" ""
"0000890276" "00003161" "30" "9396" "0" "9396" "0" "c.*5454C>T" "r.(=)" "p.(=)" "" ""
"0000890277" "00003161" "30" "8666" "0" "8666" "0" "c.*4724C>T" "r.(=)" "p.(=)" "" ""
"0000913746" "00003161" "30" "8679" "0" "8679" "0" "c.*4737G>A" "r.(=)" "p.(=)" "" ""
"0000913747" "00003161" "30" "534" "0" "538" "0" "c.534_538del" "r.(?)" "p.(Gln179Alafs*69)" "" ""
"0000930012" "00003161" "50" "9263" "0" "9263" "0" "c.*5321C>T" "r.(=)" "p.(=)" "" ""
"0000930013" "00003161" "30" "8539" "0" "8539" "0" "c.*4597C>T" "r.(=)" "p.(=)" "" ""
"0000966694" "00003161" "70" "9263" "0" "9263" "0" "c.*5321C>T" "r.(=)" "p.(=)" "" ""
"0000966697" "00003161" "30" "560" "0" "561" "0" "c.560_561insACAGCAGCAGCAGCAGCAGCA" "r.(?)" "p.(Gln182_Gln188dup)" "" ""
"0000980000" "00003161" "50" "9092" "0" "9092" "0" "c.*5150G>A" "r.(=)" "p.(=)" "" ""
"0000980001" "00003161" "30" "542" "0" "543" "0" "c.542_543insACA" "r.(?)" "p.(Gln188dup)" "" ""
"0000980002" "00003161" "30" "551" "0" "552" "0" "c.551_552insACAGCAGCAGCAGCAGCA" "r.(?)" "p.(Gln183_Gln188dup)" "" ""
"0000999630" "00003161" "30" "8754" "0" "8754" "0" "c.*4812G>A" "r.(=)" "p.(=)" "" ""
"0000999631" "00003161" "30" "522" "0" "523" "0" "c.522_523del" "r.(?)" "p.(Gln175Alafs*74)" "" ""
"0001038946" "00003161" "50" "2785" "-1" "2785" "-1" "c.2785-1G>A" "r.spl?" "p.?" "" ""
"0001038947" "00003161" "30" "625" "0" "625" "0" "c.625G>A" "r.(?)" "p.(Ala209Thr)" "" ""
"0001038948" "00003161" "30" "534" "0" "534" "0" "c.534G>C" "r.(?)" "p.(Gln178His)" "" ""
"0001038949" "00003161" "50" "524" "0" "525" "0" "c.524_525insACA" "r.(?)" "p.(Gln188dup)" "" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 14
"{{screeningid}}" "{{variantid}}"
"0000105053" "0000170322"
"0000105054" "0000170323"
"0000105055" "0000170324"
"0000105056" "0000170325"
"0000105056" "0000170326"
"0000105174" "0000170449"
"0000105175" "0000170450"
"0000105176" "0000170451"
"0000105177" "0000170452"
"0000105178" "0000170453"
"0000105179" "0000170454"
"0000105180" "0000170455"
"0000105181" "0000170456"
"0000105182" "0000170457"