### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = UBQLN2) # 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}}" "UBQLN2" "ubiquilin 2" "X" "p11.21" "unknown" "NG_016249.1" "UD_132084475314" "" "https://www.LOVD.nl/UBQLN2" "" "1" "12509" "29978" "300264" "1" "1" "1" "1" "This gene sequence variant database has been initiated based on the data reported by Tarpey et al. (2009) A systematic, large-scale resequencing screen of the X-chromosome coding exons in mental retardation. Nat.Genet. 41: 535-543. Establishment of the database was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "g" "http://databases.lovd.nl/shared/refseq/UBQLN2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2009-03-06 00:00:00" "00006" "2017-01-05 12:38:58" "00000" "2023-04-16 21:50:28" ## 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}}" "00022287" "UBQLN2" "ubiquilin 2" "001" "NM_013444.3" "" "NP_038472.2" "" "" "" "-281" "3137" "1875" "56590026" "56593443" "" "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" "" "" "00187" "MRX;IDX" "mental retardation, X-linked (MRX, intellectual disability (IDX))" "" "" "" "X-linked" "" "00006" "2013-09-05 15:56:47" "00006" "2018-12-18 09:23:21" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "02194" "ALS15" "sclerosis, lateral, amyotrophic, type 15, with/without frontotemporal dementia (ALS15)" "XLD" "300857" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04255" "ALS" "sclerosis, lateral, amyotrophic (ALS)" "" "" "" "" "" "00015" "2015-05-08 11:45:27" "00006" "2015-12-08 23:53:05" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "UBQLN2" "02194" ## Individuals ## Do not remove or alter this header ## ## Count = 14 "{{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}}" "00078532" "" "" "" "1" "" "01604" "{PMID:Kim 2014:24684794}, {DOI:Kim 2014:10.1016/j.neurobiolaging.2014.03.001}" "" "F" "" "Korea" ">67y" "0" "" "" "Korean" "" "00078533" "" "" "" "1" "" "01604" "{PMID:Kim 2014:24684794}, {DOI:Kim 2014:10.1016/j.neurobiolaging.2014.03.001}" "" "M" "" "Korea" ">35y" "0" "" "" "Korean" "" "00094979" "" "" "" "5" "" "00006" "{PMID:Kim 2014:24684794}, {DOI:Kim 2014:10.1016/j.neurobiolaging.2014.03.001}" "" "F;M" "" "Korea" "" "0" "" "" "" "" "00172692" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00172693" "" "" "" "2" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00271355" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00407013" "" "" "" "1" "" "00006" "{PMID:Ozoguz 2015:25681989}" "" "M" "" "Turkey" "" "0" "" "" "" "C9ORF72#13" "00407033" "" "" "" "2" "" "00006" "{PMID:Jiang 2022:33563768}" "3-generation family, affected mother/son" "M" "" "China" "" "0" "" "" "" "UBQLN2#1" "00407034" "" "" "" "2" "" "00006" "{PMID:Jiang 2022:33563768}" "4-generation family, 2 affected brothers, 4 unaffected heterozygous carriers (3F, M)" "M" "yes" "China" "" "0" "" "" "" "UBQLN2#2" "00407035" "" "" "" "6" "" "00006" "{PMID:Jiang 2022:33563768}" "5-generation family, 6 affected (6F), 5 unaffected heterozygous carriers (4F, M)" "M" "" "China" "" "0" "" "" "" "UBQLN2#3" "00407036" "" "" "" "2" "" "00006" "{PMID:Jiang 2022:33563768}" "4-generation family, 2 affected brothers, 2 unaffected heterozygous carriers (F, M)" "F" "" "China" "" "0" "" "" "" "UBQLN2#4" "00407037" "" "" "" "1" "" "00006" "{PMID:Jiang 2022:33563768}" "2-generation family, 1 affected" "M" "" "China" "" "0" "" "" "" "UBQLN2#5" "00407058" "" "" "" "1" "" "00006" "{PMID:Jiang 2022:33563768}" "" "M" "" "China" "" "0" "" "" "" "UBQLN2-S1" "00407059" "" "" "" "1" "" "00006" "{PMID:Jiang 2022:33563768}" "" "F" "" "China" "" "0" "" "" "" "UBQLN2-S2" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 14 "{{individualid}}" "{{diseaseid}}" "00078532" "04255" "00078533" "04255" "00094979" "00000" "00172692" "00187" "00172693" "00187" "00271355" "00198" "00407013" "04255" "00407033" "04255" "00407034" "04255" "00407035" "04255" "00407036" "04255" "00407037" "04255" "00407058" "04255" "00407059" "04255" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00187, 00198, 02194, 04255 ## Count = 13 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Birth/Gestational_age_wk}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000058308" "04255" "00078532" "01604" "Familial, autosomal dominant" "" "progressive limb weakness (HP:0003690)" "60y" "" "" "" "" "" "" "" "" "" "" "" "0000058309" "04255" "00078533" "01604" "Familial, autosomal dominant" "" "progressive lower leg weakness (HP:0007340), spasticity (HP:0001257)" "30y" "" "" "" "" "" "" "" "" "" "" "" "0000137556" "00187" "00172692" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "MRX" "" "0000137557" "00187" "00172693" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "MRX" "" "0000207962" "00198" "00271355" "01164" "Unknown" "" "Abnormality of movement (HP:0100022); Abnormal motor neuron morphology (HP:0002450)" "" "" "" "" "" "" "" "" "" "" "" "" "0000299401" "04255" "00407013" "00006" "Familial, autosomal dominant" "54y" "site onset limb" "" "" "" "" "" "" "" "" "" "" "amyotrophic lateral sclerosis" "" "0000299421" "04255" "00407033" "00006" "Familial, X-linked" "26y" "site onset limb" "" "" "" "" "" "" "" "" "" "" "amyotrophic lateral sclerosis" "" "0000299422" "04255" "00407034" "00006" "Familial, X-linked" "22y" "incomplete penetrance; site onset limb" "" "" "" "" "" "" "" "" "" "" "amyotrophic lateral sclerosis" "" "0000299423" "04255" "00407035" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "amyotrophic lateral sclerosis" "" "0000299424" "04255" "00407036" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "amyotrophic lateral sclerosis" "" "0000299425" "04255" "00407037" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "amyotrophic lateral sclerosis" "" "0000299446" "04255" "00407058" "00006" "Isolated (sporadic)" "14y" "drop foot; site onset limb" "" "" "" "" "" "" "" "" "" "" "amyotrophic lateral sclerosis" "" "0000299447" "04255" "00407059" "00006" "Isolated (sporadic)" "16y" "Madras-type motor neuron disease; site onset limb" "" "" "" "" "" "" "" "" "" "" "amyotrophic lateral sclerosis" "" ## Screenings ## Do not remove or alter this header ## ## Count = 14 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000078707" "00078532" "1" "01604" "01604" "2016-07-19 09:59:24" "" "" "SEQ" "DNA" "" "" "0000078708" "00078533" "1" "01604" "01604" "2016-07-19 10:04:55" "" "" "SEQ" "DNA" "" "" "0000095378" "00094979" "1" "00006" "00006" "2017-01-05 12:45:32" "" "" "SEQ" "DNA" "" "" "0000173575" "00172692" "1" "00124" "00006" "2009-04-08 14:04:23" "00006" "2009-05-19 12:33:15" "SEQ" "DNA" "" "" "0000173576" "00172693" "1" "00124" "00006" "2009-04-08 14:04:23" "00006" "2009-05-19 12:34:20" "SEQ" "DNA" "" "" "0000272506" "00271355" "1" "01164" "01164" "2019-12-18 16:25:37" "" "" "SEQ-NG-S" "DNA" "" "" "0000408260" "00407013" "1" "00006" "00006" "2022-04-05 18:59:54" "" "" "PCRrp" "DNA" "" "" "0000408280" "00407033" "1" "00006" "00006" "2022-04-05 18:59:54" "" "" "SEQ" "DNA" "" "" "0000408281" "00407034" "1" "00006" "00006" "2022-04-05 18:59:54" "" "" "SEQ" "DNA" "" "" "0000408282" "00407035" "1" "00006" "00006" "2022-04-05 18:59:54" "" "" "SEQ" "DNA" "" "" "0000408283" "00407036" "1" "00006" "00006" "2022-04-05 18:59:54" "" "" "SEQ" "DNA" "" "" "0000408284" "00407037" "1" "00006" "00006" "2022-04-05 18:59:54" "" "" "SEQ" "DNA" "" "" "0000408305" "00407058" "1" "00006" "00006" "2022-04-05 18:59:54" "" "" "SEQ" "DNA" "" "" "0000408306" "00407059" "1" "00006" "00006" "2022-04-05 18:59:54" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{geneid}}" "0000078707" "UBQLN2" "0000078708" "UBQLN2" "0000095378" "UBQLN2" "0000173575" "MAGEH1" "0000173576" "MAGEH1" ## 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 = 40 "{{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}}" "0000125808" "1" "50" "X" "56591248" "56591248" "subst" "5.04521E-5" "01604" "UBQLN2_000003" "g.56591248T>A" "1/258 cases" "{PMID:Kim 2014:24684794}, {DOI:Kim 2014:10.1016/j.neurobiolaging.2014.03.001}" "" "" "" "Germline" "" "rs201122014" "0" "" "" "g.56564815T>A" "" "VUS" "" "0000125809" "1" "50" "X" "56591248" "56591248" "subst" "5.04521E-5" "01604" "UBQLN2_000003" "g.56591248T>A" "1/258 cases" "{PMID:Kim 2014:24684794}, {DOI:Kim 2014:10.1016/j.neurobiolaging.2014.03.001}" "" "" "" "Germline" "" "rs201122014" "0" "" "" "g.56564815T>A" "" "VUS" "" "0000153927" "20" "50" "X" "56591248" "56591248" "subst" "5.04521E-5" "00006" "UBQLN2_000003" "g.56591248T>A" "5/727 controls" "{PMID:Kim 2014:24684794}, {DOI:Kim 2014:10.1016/j.neurobiolaging.2014.03.001}" "" "" "" "Germline" "" "rs201122014" "0" "" "" "g.56564815T>A" "" "VUS" "" "0000250386" "0" "30" "X" "56590670" "56590670" "subst" "0" "02329" "UBQLN2_000005" "g.56590670A>G" "" "" "" "UBQLN2(NM_013444.4):c.364A>G (p.N122D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56564237A>G" "" "likely benign" "" "0000313604" "0" "30" "X" "56591689" "56591689" "subst" "0.00378432" "02329" "UBQLN2_000009" "g.56591689G>A" "" "" "" "UBQLN2(NM_013444.3):c.1383G>A (p.G461=), UBQLN2(NM_013444.4):c.1383G>A (p.G461=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56565256G>A" "" "likely benign" "" "0000313605" "0" "30" "X" "56591726" "56591726" "subst" "1.12529E-5" "02329" "UBQLN2_000010" "g.56591726C>G" "" "" "" "UBQLN2(NM_013444.3):c.1420C>G (p.P474A), UBQLN2(NM_013444.4):c.1420C>G (p.P474A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56565293C>G" "" "likely benign" "" "0000313606" "0" "30" "X" "56591767" "56591767" "subst" "0.00587135" "02329" "UBQLN2_000011" "g.56591767C>A" "" "" "" "UBQLN2(NM_013444.3):c.1461C>A (p.T487=), UBQLN2(NM_013444.4):c.1461C>A (p.T487=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56565334C>A" "" "likely benign" "" "0000313607" "0" "30" "X" "56590492" "56590492" "subst" "0" "02329" "UBQLN2_000004" "g.56590492G>A" "" "" "" "UBQLN2(NM_013444.4):c.186G>A (p.S62=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56564059G>A" "" "likely benign" "" "0000313608" "0" "10" "X" "56590738" "56590738" "subst" "5.61845E-6" "02329" "UBQLN2_000006" "g.56590738G>T" "" "" "" "UBQLN2(NM_013444.4):c.432G>T (p.G144=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56564305G>T" "" "benign" "" "0000315187" "0" "30" "X" "56591479" "56591479" "subst" "1.12225E-5" "02326" "UBQLN2_000008" "g.56591479C>T" "" "" "" "UBQLN2(NM_013444.3):c.1173C>T (p.Y391=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56565046C>T" "" "likely benign" "" "0000315188" "0" "10" "X" "56591767" "56591767" "subst" "0.00587135" "02326" "UBQLN2_000011" "g.56591767C>A" "" "" "" "UBQLN2(NM_013444.3):c.1461C>A (p.T487=), UBQLN2(NM_013444.4):c.1461C>A (p.T487=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56565334C>A" "" "benign" "" "0000319236" "0" "10" "X" "56591767" "56591767" "subst" "0.00587135" "01943" "UBQLN2_000011" "g.56591767C>A" "" "" "" "UBQLN2(NM_013444.3):c.1461C>A (p.T487=), UBQLN2(NM_013444.4):c.1461C>A (p.T487=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56565334C>A" "" "benign" "" "0000319237" "0" "30" "X" "56590942" "56590942" "subst" "0" "01943" "UBQLN2_000007" "g.56590942G>A" "" "" "" "UBQLN2(NM_013444.3):c.636G>A (p.Q212=), UBQLN2(NM_013444.4):c.636G>A (p.Q212=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56564509G>A" "" "likely benign" "" "0000393434" "1" "30" "X" "56591689" "56591689" "subst" "0.00378432" "00124" "UBQLN2_000009" "g.56591689G>A" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "G461G" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.56565256G>A" "" "likely benign" "" "0000393435" "1" "30" "X" "56591767" "56591767" "subst" "0.00587135" "00124" "UBQLN2_000011" "g.56591767C>A" "2/208 cases" "{PMID:Tarpey 2009:19377476}" "" "T487T" "recurrent, found 2 times" "Germline" "" "" "0" "" "" "g.56565334C>A" "" "likely benign" "" "0000576802" "0" "30" "X" "56590700" "56590700" "subst" "0" "01943" "UBQLN2_000012" "g.56590700A>G" "" "" "" "UBQLN2(NM_013444.3):c.394A>G (p.N132D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56564267A>G" "" "likely benign" "" "0000576803" "0" "30" "X" "56590942" "56590942" "subst" "0" "02329" "UBQLN2_000007" "g.56590942G>A" "" "" "" "UBQLN2(NM_013444.3):c.636G>A (p.Q212=), UBQLN2(NM_013444.4):c.636G>A (p.Q212=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56564509G>A" "" "likely benign" "" "0000576804" "0" "50" "X" "56591596" "56591596" "subst" "5.60535E-6" "02329" "UBQLN2_000013" "g.56591596C>G" "" "" "" "UBQLN2(NM_013444.4):c.1290C>G (p.L430=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56565163C>G" "" "VUS" "" "0000576805" "0" "30" "X" "56591689" "56591689" "subst" "0.00378432" "01943" "UBQLN2_000009" "g.56591689G>A" "" "" "" "UBQLN2(NM_013444.3):c.1383G>A (p.G461=), UBQLN2(NM_013444.4):c.1383G>A (p.G461=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56565256G>A" "" "likely benign" "" "0000576806" "0" "50" "X" "56591908" "56591908" "subst" "3.9428E-5" "01943" "UBQLN2_000014" "g.56591908G>A" "" "" "" "UBQLN2(NM_013444.3):c.1602G>A (p.T534=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56565475G>A" "" "VUS" "" "0000626432" "0" "90" "X" "56591796" "56591796" "subst" "0" "01164" "UBQLN2_000015" "g.56591796C>A" "" "" "" "" "ACMG: PS3,PM2,PM5,PP1,PP3" "Germline" "" "rs387906709" "0" "" "" "g.56565363C>A" "" "pathogenic" "ACMG" "0000682554" "0" "30" "X" "56590388" "56590388" "subst" "1.93988E-5" "01943" "UBQLN2_000016" "g.56590388G>C" "" "" "" "UBQLN2(NM_013444.3):c.82G>C (p.A28P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000682555" "0" "30" "X" "56591879" "56591879" "subst" "0.000315541" "02326" "UBQLN2_000017" "g.56591879C>T" "" "" "" "UBQLN2(NM_013444.3):c.1573C>T (p.P525S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000729076" "0" "50" "X" "56590338" "56590338" "subst" "0" "01943" "UBQLN2_000018" "g.56590338C>G" "" "" "" "UBQLN2(NM_013444.3):c.32C>G (p.P11R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000729077" "0" "50" "X" "56590868" "56590868" "subst" "0" "01943" "UBQLN2_000019" "g.56590868A>T" "" "" "" "UBQLN2(NM_013444.3):c.562A>T (p.N188Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000729078" "0" "50" "X" "56591325" "56591325" "subst" "1.69818E-5" "02325" "UBQLN2_000020" "g.56591325G>T" "" "" "" "UBQLN2(NM_013444.4):c.1019G>T (p.S340I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000729079" "0" "50" "X" "56591624" "56591624" "subst" "5.59691E-6" "02325" "UBQLN2_000021" "g.56591624C>A" "" "" "" "UBQLN2(NM_013444.4):c.1318C>A (p.P440T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000810558" "0" "50" "X" "56590889" "56590889" "subst" "1.1213E-5" "02327" "UBQLN2_000022" "g.56590889C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000810559" "0" "30" "X" "56590900" "56590900" "subst" "0" "01943" "UBQLN2_000023" "g.56590900C>T" "" "" "" "UBQLN2(NM_013444.3):c.594C>T (p.P198=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000845157" "0" "90" "X" "56591822" "56591822" "subst" "0" "00006" "UBQLN2_000025" "g.56591822C>T" "1/486 cases" "{PMID:Jiang 2022:33563768}" "" "P506S" "" "Germline" "" "" "0" "" "" "g.56565389C>T" "" "pathogenic" "" "0000845158" "0" "90" "X" "56591879" "56591879" "subst" "0.000315541" "00006" "UBQLN2_000017" "g.56591879C>T" "1/486 cases" "{PMID:Jiang 2022:33563768}" "" "P525S" "" "Germline" "" "" "0" "" "" "g.56565446C>T" "" "pathogenic" "" "0000845159" "0" "90" "X" "56591325" "56591325" "subst" "1.69818E-5" "00006" "UBQLN2_000020" "g.56591325G>T" "1/486 cases" "{PMID:Jiang 2022:33563768}" "" "S340I" "" "Germline" "" "" "0" "" "" "g.56564892G>T" "" "pathogenic" "" "0000845160" "0" "90" "X" "56591325" "56591325" "subst" "1.69818E-5" "00006" "UBQLN2_000020" "g.56591325G>T" "1/486 cases" "{PMID:Jiang 2022:33563768}" "" "S340I" "" "Germline" "" "" "0" "" "" "g.56564892G>T" "" "pathogenic" "" "0000845161" "0" "90" "X" "56591325" "56591325" "subst" "1.69818E-5" "00006" "UBQLN2_000020" "g.56591325G>T" "1/486 cases" "{PMID:Jiang 2022:33563768}" "" "S340I" "" "Germline" "" "" "0" "" "" "g.56564892G>T" "" "pathogenic" "" "0000845182" "0" "90" "X" "56591482" "56591482" "subst" "0" "00006" "UBQLN2_000024" "g.56591482G>H" ">1/309 cases" "{PMID:Jiang 2022:33563768}" "" "M392I" "" "Germline" "" "" "0" "" "" "g.56565049G>H" "" "pathogenic" "" "0000845183" "0" "90" "X" "56591482" "56591482" "subst" "0" "00006" "UBQLN2_000024" "g.56591482G>H" ">1/309 cases" "{PMID:Jiang 2022:33563768}" "" "M392I" "" "Germline" "" "" "0" "" "" "g.56565049G>H" "" "pathogenic" "" "0000845184" "0" "90" "X" "56591325" "56591325" "subst" "1.69818E-5" "00006" "UBQLN2_000020" "g.56591325G>T" ">1/309 cases" "{PMID:Jiang 2022:33563768}" "" "S340I" "" "Germline" "" "" "0" "" "" "g.56564892G>T" "" "pathogenic" "" "0000867481" "0" "30" "X" "56591276" "56591276" "subst" "0" "01943" "UBQLN2_000026" "g.56591276C>T" "" "" "" "UBQLN2(NM_013444.3):c.970C>T (p.P324S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000867482" "0" "50" "X" "56591726" "56591726" "subst" "1.12529E-5" "01943" "UBQLN2_000010" "g.56591726C>G" "" "" "" "UBQLN2(NM_013444.3):c.1420C>G (p.P474A), UBQLN2(NM_013444.4):c.1420C>G (p.P474A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000927402" "0" "10" "X" "56591689" "56591689" "subst" "0.00378432" "02326" "UBQLN2_000009" "g.56591689G>A" "" "" "" "UBQLN2(NM_013444.3):c.1383G>A (p.G461=), UBQLN2(NM_013444.4):c.1383G>A (p.G461=)" "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 UBQLN2 ## Count = 40 "{{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}}" "0000125808" "00022287" "50" "942" "0" "942" "0" "c.942T>A" "r.(?)" "p.(Asp314Glu)" "1" "0000125809" "00022287" "50" "942" "0" "942" "0" "c.942T>A" "r.(?)" "p.(Asp314Glu)" "1" "0000153927" "00022287" "50" "942" "0" "942" "0" "c.942T>A" "r.(?)" "p.(Asp314Glu)" "1" "0000250386" "00022287" "30" "364" "0" "364" "0" "c.364A>G" "r.(?)" "p.(Asn122Asp)" "" "0000313604" "00022287" "30" "1383" "0" "1383" "0" "c.1383G>A" "r.(?)" "p.(Gly461=)" "" "0000313605" "00022287" "30" "1420" "0" "1420" "0" "c.1420C>G" "r.(?)" "p.(Pro474Ala)" "" "0000313606" "00022287" "30" "1461" "0" "1461" "0" "c.1461C>A" "r.(?)" "p.(Thr487=)" "" "0000313607" "00022287" "30" "186" "0" "186" "0" "c.186G>A" "r.(?)" "p.(Ser62=)" "" "0000313608" "00022287" "10" "432" "0" "432" "0" "c.432G>T" "r.(?)" "p.(Gly144=)" "" "0000315187" "00022287" "30" "1173" "0" "1173" "0" "c.1173C>T" "r.(?)" "p.(Tyr391=)" "" "0000315188" "00022287" "10" "1461" "0" "1461" "0" "c.1461C>A" "r.(?)" "p.(Thr487=)" "" "0000319236" "00022287" "10" "1461" "0" "1461" "0" "c.1461C>A" "r.(?)" "p.(Thr487=)" "" "0000319237" "00022287" "30" "636" "0" "636" "0" "c.636G>A" "r.(?)" "p.(Gln212=)" "" "0000393434" "00022287" "30" "1383" "0" "1383" "0" "c.1383G>A" "r.(=)" "p.(=)" "" "0000393435" "00022287" "30" "1461" "0" "1461" "0" "c.1461C>A" "r.(=)" "p.(=)" "" "0000576802" "00022287" "30" "394" "0" "394" "0" "c.394A>G" "r.(?)" "p.(Asn132Asp)" "" "0000576803" "00022287" "30" "636" "0" "636" "0" "c.636G>A" "r.(?)" "p.(Gln212=)" "" "0000576804" "00022287" "50" "1290" "0" "1290" "0" "c.1290C>G" "r.(?)" "p.(Leu430=)" "" "0000576805" "00022287" "30" "1383" "0" "1383" "0" "c.1383G>A" "r.(?)" "p.(Gly461=)" "" "0000576806" "00022287" "50" "1602" "0" "1602" "0" "c.1602G>A" "r.(?)" "p.(Thr534=)" "" "0000626432" "00022287" "90" "1490" "0" "1490" "0" "c.1490C>A" "r.(?)" "p.(Pro497His)" "" "0000682554" "00022287" "30" "82" "0" "82" "0" "c.82G>C" "r.(?)" "p.(Ala28Pro)" "" "0000682555" "00022287" "30" "1573" "0" "1573" "0" "c.1573C>T" "r.(?)" "p.(Pro525Ser)" "" "0000729076" "00022287" "50" "32" "0" "32" "0" "c.32C>G" "r.(?)" "p.(Pro11Arg)" "" "0000729077" "00022287" "50" "562" "0" "562" "0" "c.562A>T" "r.(?)" "p.(Asn188Tyr)" "" "0000729078" "00022287" "50" "1019" "0" "1019" "0" "c.1019G>T" "r.(?)" "p.(Ser340Ile)" "" "0000729079" "00022287" "50" "1318" "0" "1318" "0" "c.1318C>A" "r.(?)" "p.(Pro440Thr)" "" "0000810558" "00022287" "50" "583" "0" "583" "0" "c.583C>A" "r.(?)" "p.(Leu195Ile)" "" "0000810559" "00022287" "30" "594" "0" "594" "0" "c.594C>T" "r.(?)" "p.(Pro198=)" "" "0000845157" "00022287" "90" "1516" "0" "1516" "0" "c.1516C>T" "r.(?)" "p.(Pro506Ser)" "" "0000845158" "00022287" "90" "1573" "0" "1573" "0" "c.1573C>T" "r.(?)" "p.(Pro525Ser)" "" "0000845159" "00022287" "90" "1019" "0" "1019" "0" "c.1019G>T" "r.(?)" "p.(Ser340Ile)" "" "0000845160" "00022287" "90" "1019" "0" "1019" "0" "c.1019G>T" "r.(?)" "p.(Ser340Ile)" "" "0000845161" "00022287" "90" "1019" "0" "1019" "0" "c.1019G>T" "r.(?)" "p.(Ser340Ile)" "" "0000845182" "00022287" "90" "1176" "0" "1176" "0" "c.1176G>H" "r.(?)" "p.(Met392Ile)" "" "0000845183" "00022287" "90" "1176" "0" "1176" "0" "c.1176G>H" "r.(?)" "p.(Met392Ile)" "" "0000845184" "00022287" "90" "1019" "0" "1019" "0" "c.1019G>T" "r.(?)" "p.(Ser340Ile)" "" "0000867481" "00022287" "30" "970" "0" "970" "0" "c.970C>T" "r.(?)" "p.(Pro324Ser)" "" "0000867482" "00022287" "50" "1420" "0" "1420" "0" "c.1420C>G" "r.(?)" "p.(Pro474Ala)" "" "0000927402" "00022287" "10" "1383" "0" "1383" "0" "c.1383G>A" "r.(?)" "p.(Gly461=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 14 "{{screeningid}}" "{{variantid}}" "0000078707" "0000125808" "0000078708" "0000125809" "0000095378" "0000153927" "0000173575" "0000393434" "0000173576" "0000393435" "0000272506" "0000626432" "0000408260" "0000845184" "0000408280" "0000845157" "0000408281" "0000845158" "0000408282" "0000845159" "0000408283" "0000845160" "0000408284" "0000845161" "0000408305" "0000845182" "0000408306" "0000845183"