### LOVD-version 3000-290 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = AGRN) # 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}}" "AGRN" "agrin" "1" "p36.33" "unknown" "LRG_198" "UD_134408245107" "" "https://www.LOVD.nl/AGRN" "" "1" "329" "375790" "103320" "1" "1" "1" "1" "This database is one of the gene variant databases from the:" "" "g" "https://databases.lovd.nl/shared/refseq/AGRN_codingDNA.html" "1" "" "This database is one of the gene variant databases from the \"Leiden Muscular Dystrophy pages\" (LMDp)" "-1" "" "-1" "00001" "2010-01-01 00:00:00" "00006" "2019-01-20 12:49:20" "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}}" "00002246" "AGRN" "agrin" "001" "NM_198576.3" "" "NP_940978.2" "" "" "" "-50" "7276" "6138" "955503" "991499" "" "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" "" "" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2016-10-22 17:54:40" "03407" "LKDMN" "Leukoencephalopathy with dystonia and motor neuropathy" "AR" "613724" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03835" "CMS8" "myasthenic syndrome, congenital, type 8, with pre- and postsynaptic defects (CMS-8)" "AR" "615120" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04312" "CMS" "myasthenic syndrome, congenital (CMS)" "" "" "" "" "" "00006" "2015-08-28 20:21:50" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "AGRN" "03835" ## Individuals ## Do not remove or alter this header ## ## Count = 41 "{{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}}" "00034720" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00034721" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00057863" "" "" "" "1" "" "00006" "{PMID:Huze 2009:19631309}" "" "" "" "" "" "0" "" "" "" "" "00057864" "" "" "" "1" "" "00006" "{PMID:Huze 2009:19631309}" "" "" "" "" "" "0" "" "" "" "" "00057865" "" "" "" "1" "" "00006" "{PMID:Huze 2009:19631309}" "" "" "" "" "" "0" "" "" "" "" "00057866" "" "" "" "1" "" "00006" "{PMID:Huze 2009:19631309}" "" "" "" "" "" "0" "" "" "" "" "00057867" "" "" "" "1" "" "00006" "{PMID:Huze 2009:19631309}" "" "" "" "" "" "0" "" "" "" "" "00057868" "" "" "" "1" "" "00006" "{PMID:Huze 2009:19631309}" "" "" "" "" "" "0" "" "" "" "" "00057869" "" "" "" "1" "" "00006" "{PMID:Huze 2009:19631309}" "" "" "" "" "" "0" "" "" "" "" "00057870" "" "" "" "1" "" "00006" "{PMID:Huze 2009:19631309}" "" "" "" "" "" "0" "" "" "" "" "00057871" "" "" "" "1" "" "00006" "{PMID:Huze 2009:19631309}" "" "" "" "" "" "0" "" "" "" "" "00057872" "" "" "" "1" "" "00006" "{PMID:Huze 2009:19631309}" "" "" "" "" "" "0" "" "" "" "" "00057873" "" "" "" "1" "" "00006" "{PMID:Huze 2009:19631309}" "" "" "" "" "" "0" "" "" "" "" "00057874" "" "" "" "1" "" "00006" "{PMID:Huze 2009:19631309}" "" "" "" "" "" "0" "" "" "" "" "00057875" "" "" "" "1" "" "00006" "{PMID:Huze 2009:19631309}" "" "" "" "" "" "0" "" "" "" "" "00057876" "" "" "" "1" "" "00006" "{PMID:Huze 2009:19631309}" "" "" "" "" "" "0" "" "" "" "" "00057877" "" "" "" "1" "" "00006" "{PMID:Huze 2009:19631309}" "" "" "" "" "" "0" "" "" "" "" "00057878" "" "" "" "1" "" "00006" "{PMID:Huze 2009:19631309}" "" "" "" "" "" "0" "" "" "" "" "00057879" "" "" "" "1" "" "00006" "{PMID:Huze 2009:19631309}" "" "" "" "" "" "0" "" "" "" "" "00057880" "" "" "" "1" "" "00006" "{PMID:Huze 2009:19631309}" "" "" "" "" "" "0" "" "" "" "" "00057881" "" "" "" "1" "" "00006" "{PMID:Huze 2009:19631309}" "" "" "" "" "" "0" "" "" "" "" "00057882" "" "" "" "1" "" "00006" "{PMID:Huze 2009:19631309}" "sister of 19631309-III.4; 5 asymptomatic carriers" "F" "yes" "Switzerland" ">42y" "0" "" "" "" "" "00057883" "" "" "" "1" "" "00006" "{PMID:Huze 2009:19631309}" "brother of 19631309-III.5; 5 asymptomatic carriers" "M" "yes" "Switzerland" ">36y" "0" "" "" "" "" "00057884" "" "" "" "2" "" "00006" "{PMID:Huze 2009:19631309}" "2-generation family, affected brother/sister, unaffected heterozygous carrier parents/sibs" "" "yes" "" "" "0" "" "" "" "" "00057885" "" "" "" "1" "" "00006" "{PMID:Huze 2009:19631309}" "" "" "" "" "" "0" "" "" "" "" "00057886" "" "" "" "1" "" "00006" "{PMID:Huze 2009:19631309}" "" "" "" "" "" "0" "" "" "" "" "00057887" "" "" "" "1" "" "00006" "{PMID:Huze 2009:19631309}" "" "" "" "" "" "0" "" "" "" "" "00079871" "" "" "" "1" "" "00793" "" "" "M" "no" "China" "" "0" "yes" "" "chinese" "" "00289946" "" "" "" "12" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00289947" "" "" "" "27" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00289950" "" "" "" "119" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00289954" "" "" "" "58" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00289955" "" "" "" "13" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00289957" "" "" "" "8" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00289958" "" "" "" "4" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295740" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00304219" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304222" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00374648" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-2397" "00398753" "" "" "" "1" "" "04188" "{PMID:Ferese 2021:34354735}" "2-generation family, 1 affected" "M" "" "Italy" ">59y" "" "" "" "" "721" "00406641" "" "" "" "1" "" "04292" "" "" "" "" "" "" "" "" "" "" "11" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 40 "{{individualid}}" "{{diseaseid}}" "00057863" "00000" "00057864" "00000" "00057865" "00000" "00057866" "00000" "00057867" "00000" "00057868" "00000" "00057869" "00000" "00057870" "00000" "00057871" "00000" "00057872" "00000" "00057873" "00000" "00057874" "00000" "00057875" "00000" "00057876" "00000" "00057877" "00000" "00057878" "00000" "00057879" "00000" "00057880" "00000" "00057881" "00000" "00057882" "04312" "00057883" "04312" "00057884" "04312" "00057885" "00000" "00057886" "00000" "00057887" "00000" "00079871" "03835" "00289946" "00198" "00289947" "00198" "00289950" "00198" "00289954" "00198" "00289955" "00198" "00289957" "00198" "00289958" "00198" "00295740" "00198" "00304219" "00198" "00304222" "00198" "00374648" "00198" "00398753" "03407" "00398753" "03835" "00406641" "03835" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00198, 03407, 03835, 04312 ## Count = 29 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000044514" "00000" "00057863" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044515" "00000" "00057864" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044516" "00000" "00057865" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044517" "00000" "00057866" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044518" "00000" "00057867" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044519" "00000" "00057868" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044520" "00000" "00057869" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044521" "00000" "00057870" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044522" "00000" "00057871" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044523" "00000" "00057872" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044524" "00000" "00057873" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044525" "00000" "00057874" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044526" "00000" "00057875" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044527" "00000" "00057876" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044528" "00000" "00057877" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044529" "00000" "00057878" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044530" "00000" "00057879" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044531" "00000" "00057880" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044532" "00000" "00057881" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044533" "04312" "00057882" "00006" "Isolated (sporadic)" "" "42y-mild bilateral lid ptosis, mild facial weakness, normal function axial muscles, glutei/psoas muscles slightly weak (MRC4+/5), difficulty walking on heels, thorax/pelvis thin" "" "" "unable to run since early childhood, right-lid ptosis" "" "" "" "" "" "" "" "" "0000044534" "04312" "00057883" "00006" "Isolated (sporadic)" "" "difficulties running since early childhood, fluctuating right ptosis, intermittent mild masticatory difficulties (no dyspnea), thin thorax, flat feet" "" "" "" "" "" "" "" "" "" "" "" "0000044535" "04312" "00057884" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044536" "00000" "00057885" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044537" "00000" "00057886" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044538" "00000" "00057887" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000059584" "03835" "00079871" "00793" "Familial, autosomal recessive" "25y" "limb-girdle pattern of fatigable muscle weakness with sparing of ocular, facial, bulbar and respiratory muscles" "21y" "27y" "" "" "" "" "" "" "" "" "" "0000223258" "00198" "00295740" "01164" "Unknown" "" "Abnormal eye physiology (HP:0012373); Ptosis (HP:0000508)" "" "" "" "" "" "" "" "" "" "" "" "0000269858" "00198" "00374648" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "muscle weakness" "" "0000291836" "03835" "00398753" "04188" "Unknown" "59y" "Peripheral neuropathy (HP:0009830), Decreased nerve conduction velocity (HP:0000762), Bradyphrenia (HP:0031843), Cognitive impairment (HP:0100543), Paresthesia (HP:0003401)" "55y" "" "Peripheral neuropathy (HP:0009830), Decreased nerve conduction velocity (HP:0000762), Bradyphrenia (HP:0031843), Cognitive impairment (HP:0100543), Paresthesia (HP:0003401)" "" "" "" "" "" "" "Charcot-Marie-Tooth disease" "" ## Screenings ## Do not remove or alter this header ## ## Count = 41 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000034790" "00034720" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000034791" "00034721" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000057824" "00057863" "1" "00006" "00006" "2010-01-05 12:53:57" "00006" "2012-11-02 20:40:23" "SEQ" "DNA" "" "" "0000057825" "00057864" "1" "00006" "00006" "2010-01-05 12:53:57" "00006" "2012-11-02 20:40:23" "SEQ" "DNA" "" "" "0000057826" "00057865" "1" "00006" "00006" "2010-01-05 12:53:57" "00006" "2012-11-02 20:40:23" "SEQ" "DNA" "" "" "0000057827" "00057866" "1" "00006" "00006" "2010-01-05 12:53:57" "00006" "2012-11-02 20:40:23" "SEQ" "DNA" "" "" "0000057828" "00057867" "1" "00006" "00006" "2010-01-05 12:53:57" "00006" "2012-11-02 20:40:23" "SEQ" "DNA" "" "" "0000057829" "00057868" "1" "00006" "00006" "2010-01-05 12:53:57" "00006" "2012-11-02 20:40:23" "SEQ" "DNA" "" "" "0000057830" "00057869" "1" "00006" "00006" "2010-01-05 12:53:57" "00006" "2012-11-02 20:40:23" "SEQ" "DNA" "" "" "0000057831" "00057870" "1" "00006" "00006" "2010-01-05 12:53:57" "00006" "2012-11-02 20:40:23" "SEQ" "DNA" "" "" "0000057832" "00057871" "1" "00006" "00006" "2010-01-05 12:53:57" "00006" "2012-11-02 20:40:23" "SEQ" "DNA" "" "" "0000057833" "00057872" "1" "00006" "00006" "2010-01-05 12:53:57" "00006" "2012-11-02 20:40:23" "SEQ" "DNA" "" "" "0000057834" "00057873" "1" "00006" "00006" "2010-01-05 12:53:57" "00006" "2012-11-02 20:40:23" "SEQ" "DNA" "" "" "0000057835" "00057874" "1" "00006" "00006" "2010-01-05 12:53:57" "00006" "2012-11-02 20:40:23" "SEQ" "DNA" "" "" "0000057836" "00057875" "1" "00006" "00006" "2010-01-05 12:53:57" "00006" "2012-11-02 20:40:23" "SEQ" "DNA" "" "" "0000057837" "00057876" "1" "00006" "00006" "2010-01-05 12:53:57" "00006" "2012-11-02 20:40:23" "SEQ" "DNA" "" "" "0000057838" "00057877" "1" "00006" "00006" "2010-01-05 12:53:57" "00006" "2012-11-02 20:40:23" "SEQ" "DNA" "" "" "0000057839" "00057878" "1" "00006" "00006" "2010-01-05 12:53:57" "00006" "2012-11-02 20:40:23" "SEQ" "DNA" "" "" "0000057840" "00057879" "1" "00006" "00006" "2010-01-05 12:53:57" "00006" "2012-11-02 20:40:23" "SEQ" "DNA" "" "" "0000057841" "00057880" "1" "00006" "00006" "2010-01-05 12:53:57" "00006" "2012-11-02 20:40:23" "SEQ" "DNA" "" "" "0000057842" "00057881" "1" "00006" "00006" "2010-01-05 12:53:57" "00006" "2012-11-02 20:40:23" "SEQ" "DNA" "" "" "0000057843" "00057882" "1" "00006" "00006" "2010-01-05 12:53:57" "00006" "2012-11-02 20:40:23" "SEQ" "DNA" "" "" "0000057844" "00057883" "1" "00006" "00006" "2010-01-05 12:53:57" "00006" "2012-11-02 20:40:23" "SEQ" "DNA" "" "" "0000057845" "00057884" "1" "00006" "00006" "2010-01-05 12:53:57" "00006" "2012-11-02 20:40:23" "SEQ" "DNA" "" "" "0000057846" "00057885" "1" "00006" "00006" "2010-01-05 12:53:57" "00006" "2012-11-02 20:40:23" "SEQ" "DNA" "" "" "0000057847" "00057886" "1" "00006" "00006" "2010-01-05 12:53:57" "00006" "2012-11-02 20:40:23" "SEQ" "DNA" "" "" "0000057848" "00057887" "1" "00006" "00006" "2010-01-05 12:53:57" "00006" "2012-11-02 20:40:23" "SEQ" "DNA" "" "" "0000079946" "00079871" "1" "00793" "00793" "2016-08-21 05:59:31" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000291114" "00289946" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291115" "00289947" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291118" "00289950" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291122" "00289954" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291123" "00289955" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291125" "00289957" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291126" "00289958" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296913" "00295740" "1" "01164" "01164" "2020-03-26 12:29:47" "" "" "SEQ-NG-S" "DNA" "" "" "0000305348" "00304219" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305351" "00304222" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000375842" "00374648" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000399994" "00398753" "1" "04188" "04188" "2022-01-11 16:04:54" "" "" "SEQ-NG-I" "DNA" "" "" "0000407888" "00406641" "1" "04292" "04292" "2022-04-03 13:51:05" "00006" "2022-04-04 13:55:18" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 31 "{{screeningid}}" "{{geneid}}" "0000034790" "AGRN" "0000034791" "AGRN" "0000057824" "AGRN" "0000057825" "AGRN" "0000057826" "AGRN" "0000057827" "AGRN" "0000057828" "AGRN" "0000057829" "AGRN" "0000057830" "AGRN" "0000057831" "AGRN" "0000057832" "AGRN" "0000057833" "AGRN" "0000057834" "AGRN" "0000057835" "AGRN" "0000057836" "AGRN" "0000057837" "AGRN" "0000057838" "AGRN" "0000057839" "AGRN" "0000057840" "AGRN" "0000057841" "AGRN" "0000057842" "AGRN" "0000057843" "AGRN" "0000057844" "AGRN" "0000057845" "AGRN" "0000057846" "AGRN" "0000057847" "AGRN" "0000057848" "AGRN" "0000079946" "AGRN" "0000375842" "AGRN" "0000399994" "AGRN" "0000399994" "SCP2" ## 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 = 137 "{{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}}" "0000061909" "1" "10" "1" "955597" "955597" "subst" "0.343749" "01164" "AGRN_000026" "g.955597G>T" "" "" "" "" "" "Germline" "" "rs115173026" "0" "" "" "g.1020217G>T" "" "benign" "" "0000061910" "1" "10" "1" "957898" "957898" "subst" "0" "01164" "AGRN_000025" "g.957898G>T" "" "" "" "" "" "Germline" "" "rs2799064" "0" "" "" "g.1022518G>T" "" "benign" "" "0000088118" "0" "10" "1" "955619" "955619" "subst" "0" "00006" "AGRN_000002" "g.955619G>Y" "0.016" "{PMID:Huze 2009:19631309}" "" "Val23Leu" "" "Germline" "" "" "0" "" "" "g.1020239G>Y" "" "benign" "" "0000088119" "0" "10" "1" "955724" "955724" "subst" "0.000223056" "00006" "AGRN_000003" "g.955724G>A" "0.01" "{PMID:Huze 2009:19631309}" "" "Asp58Asn" "" "Germline" "" "" "0" "" "" "g.1020344G>A" "" "benign" "" "0000088120" "0" "10" "1" "957693" "957693" "subst" "0" "00006" "AGRN_000004" "g.957693A>T" "0.01" "{PMID:Huze 2009:19631309}" "" "Asp105Ile" "" "Germline" "" "" "0" "" "" "g.1022313A>T" "" "benign" "" "0000088121" "0" "10" "1" "976625" "976625" "subst" "0.000256965" "00006" "AGRN_000005" "g.976625C>T" "0.02" "{PMID:Huze 2009:19631309}" "" "Thr267Met" "" "Germline" "" "" "0" "" "" "g.1041245C>T" "" "benign" "" "0000088122" "0" "10" "1" "977028" "977028" "subst" "0.00490379" "00006" "AGRN_000006" "g.977028G>T" "0.01" "{PMID:Huze 2009:19631309}" "" "Ala375Ser" "" "Germline" "" "" "0" "" "" "g.1041648G>T" "" "benign" "" "0000088123" "0" "10" "1" "979748" "979748" "subst" "0.0300012" "00006" "AGRN_000007" "g.979748A>T" "0.021" "{PMID:Huze 2009:19631309}" "" "Glu728Val" "" "Germline" "" "" "0" "" "" "g.1044368A>T" "" "benign" "" "0000088124" "0" "10" "1" "981131" "981131" "subst" "0.0119397" "00006" "AGRN_000008" "g.981131A>G" "0.005" "{PMID:Huze 2009:19631309}" "" "Gln852Arg" "" "Germline" "" "rs9697293" "0" "" "" "g.1045751A>G" "" "benign" "" "0000088125" "0" "10" "1" "981815" "981815" "subst" "0.000119303" "00006" "AGRN_000009" "g.981815G>A" "0.01" "{PMID:Huze 2009:19631309}" "" "Val984Met" "" "Germline" "" "" "0" "" "" "g.1046435G>A" "" "benign" "" "0000088126" "0" "10" "1" "982213" "982213" "subst" "0" "00006" "AGRN_000010" "g.982213G>Y" "0.01" "{PMID:Huze 2009:19631309}" "" "Leu1088Phe" "" "Germline" "" "" "0" "" "" "g.1046833G>Y" "" "benign" "" "0000088127" "0" "10" "1" "982302" "982302" "subst" "0.00185285" "00006" "AGRN_000011" "g.982302C>A" "0.01" "{PMID:Huze 2009:19631309}" "" "Thr1118Lys" "" "Germline" "" "" "0" "" "" "g.1046922C>A" "" "benign" "" "0000088128" "0" "10" "1" "982722" "982722" "subst" "0.0132101" "00006" "AGRN_000012" "g.982722A>G" "0.016" "{PMID:Huze 2009:19631309}" "" "Gln1135Arg" "" "Germline" "" "" "0" "" "" "g.1047342A>G" "" "benign" "" "0000088129" "0" "10" "1" "983243" "983243" "subst" "0.00190828" "00006" "AGRN_000013" "g.983243C>T" "0.01" "{PMID:Huze 2009:19631309}" "" "Pro1240Leu" "" "Germline" "" "" "0" "" "" "g.1047863C>T" "" "benign" "" "0000088130" "0" "10" "1" "983661" "983661" "subst" "0" "00006" "AGRN_000014" "g.983661G>M" "0.01" "{PMID:Huze 2009:19631309}" "" "Gly1341Arg" "" "Germline" "" "" "0" "" "" "g.1048281G>M" "" "benign" "" "0000088131" "0" "10" "1" "984669" "984669" "subst" "0.00348858" "00006" "AGRN_000015" "g.984669C>T" "0.01" "{PMID:Huze 2009:19631309}" "" "Pro1451Leu)" "" "Germline" "" "" "0" "" "" "g.1049289C>T" "" "benign" "" "0000088132" "0" "10" "1" "984971" "984971" "subst" "0.0078025" "00006" "AGRN_000016" "g.984971G>A" "0.016" "{PMID:Huze 2009:19631309}" "" "Ala1513Thr" "" "Germline" "" "" "0" "" "" "g.1049591G>A" "" "benign" "" "0000088133" "0" "10" "1" "985126" "985126" "subst" "0" "00006" "AGRN_000017" "g.985126G>Y" "0.01" "{PMID:Huze 2009:19631309}" "" "Gln1565His" "" "Germline" "" "" "0" "" "" "g.1049746G>Y" "" "benign" "" "0000088134" "0" "10" "1" "985826" "985826" "subst" "0.0108255" "00006" "AGRN_000018" "g.985826G>A" "0.02" "{PMID:Huze 2009:19631309}" "" "Val1666Ile" "" "Germline" "" "rs17160775" "0" "" "" "g.1050446G>A" "" "benign" "" "0000088135" "0" "10" "1" "985842" "985842" "subst" "0.0000245371" "00006" "AGRN_000019" "g.985842G>A" "0.01" "{PMID:Huze 2009:19631309}" "" "Arg1671Gln" "" "Germline" "" "" "0" "" "" "g.1050462G>A" "" "benign" "" "0000088136" "0" "10" "1" "985923" "985923" "subst" "0" "00006" "AGRN_000020" "g.985923G>C" "0.01" "{PMID:Huze 2009:19631309}" "" "Arg1698Pro" "" "Germline" "" "" "0" "" "" "g.1050543G>C" "" "benign" "" "0000088137" "10" "90" "1" "985955" "985955" "subst" "0" "00006" "AGRN_000001" "g.985955G>C" "" "{PMID:Huze 2009:19631309}, {OMIM103320:0001}" "" "5125G>C" "not in 200 control chromosomes; no variant in CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, COLQ, RAPSN, SCN4A, MUSK, DOK7" "Germline" "" "" "0" "" "" "g.1050575G>C" "" "pathogenic" "" "0000088138" "10" "90" "1" "985955" "985955" "subst" "0" "00006" "AGRN_000001" "g.985955G>C" "" "{PMID:Huze 2009:19631309}, {OMIM103320:0001}" "" "5125G>C" "not in 200 control chromosomes; no variant in CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, COLQ, RAPSN, SCN4A, MUSK, DOK7" "Germline" "" "" "0" "" "" "g.1050575G>C" "" "pathogenic" "" "0000088139" "3" "10" "1" "985955" "985955" "subst" "0" "00006" "AGRN_000021" "g.985955G>C" "" "{PMID:Huze 2009:19631309}" "" "" "not in 200 control chromosomes" "Germline" "" "" "0" "" "" "g.1050575G>C" "" "benign" "" "0000088140" "0" "10" "1" "986165" "986165" "subst" "0.00354939" "00006" "AGRN_000022" "g.986165G>A" "0.01" "{PMID:Huze 2009:19631309}" "" "Arg1734His" "" "Germline" "" "" "0" "" "" "g.1050785G>A" "" "benign" "" "0000088141" "0" "10" "1" "986732" "986732" "subst" "0.0063944" "00006" "AGRN_000023" "g.986732G>A" "0.01" "{PMID:Huze 2009:19631309}" "" "Asp1785Asn" "" "Germline" "" "" "0" "" "" "g.1051352G>A" "" "benign" "" "0000088142" "0" "10" "1" "990291" "990291" "subst" "0.0000486165" "00006" "AGRN_000024" "g.990291G>T" "0.01" "{PMID:Huze 2009:19631309}" "" "Gly2023Val" "" "Germline" "" "" "0" "" "" "g.1054911G>T" "" "benign" "" "0000088159" "21" "90" "1" "985955" "985955" "subst" "0" "00006" "AGRN_000001" "g.985955G>C" "" "{PMID:Huze 2009:19631309}, {OMIM103320:0001}" "" "5125G>C" "not in 200 control chromosomes; no variant in CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, COLQ, RAPSN, SCN4A, MUSK, DOK7" "Germline" "" "" "0" "" "" "g.1050575G>C" "" "pathogenic" "" "0000088160" "21" "90" "1" "985955" "985955" "subst" "0" "00006" "AGRN_000001" "g.985955G>C" "" "{PMID:Huze 2009:19631309}, {OMIM103320:0001}" "" "5125G>C" "not in 200 control chromosomes; no variant in CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, COLQ, RAPSN, SCN4A, MUSK, DOK7" "Germline" "" "" "0" "" "" "g.1050575G>C" "" "pathogenic" "" "0000088163" "0" "30" "1" "985955" "985955" "subst" "0" "00006" "AGRN_000001" "g.985955G>C" "" "{PMID:Huze 2009:19631309}, {OMIM610285:0001}" "" "" "pCEP-Pu mini-AGRN expression cloning C2C12 cells normal AChR clustering" "Germline" "" "" "0" "" "" "g.1050575G>C" "" "likely benign" "" "0000088164" "0" "30" "1" "985955" "985955" "subst" "0" "00006" "AGRN_000001" "g.985955G>C" "" "{PMID:Huze 2009:19631309}, {OMIM610285:0001}" "" "" "pCEP-Pu mini-AGRN co-expression cloningMUSK T293 cells normal MuSK phosphorylation" "Germline" "" "" "0" "" "" "g.1050575G>C" "" "likely benign" "" "0000088165" "0" "90" "1" "985955" "985955" "subst" "0" "00006" "AGRN_000001" "g.985955G>C" "" "{PMID:Huze 2009:19631309}, {OMIM610285:0001}" "" "" "pCEP-Pu mini-AGRN injection rat muscle dramatically perturbs maintenance neuromuscular junction (remodels and fragments pre-existing NMJs)" "Germline" "" "" "0" "" "" "g.1050575G>C" "" "pathogenic" "" "0000128826" "3" "70" "1" "986681" "986681" "subst" "0" "00793" "AGRN_000027" "g.986681G>C" "" "" "" "" "novel homozygous missense variant, not found in online datasets" "Germline" "" "" "0" "" "" "g.1051301G>C" "" "likely pathogenic" "" "0000248490" "0" "10" "1" "981931" "981931" "subst" "0.88721" "02325" "AGRN_000035" "g.981931A>G" "" "" "" "AGRN(NM_198576.4):c.3066A>G (p.S1022=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1046551A>G" "" "benign" "" "0000251071" "0" "10" "1" "979748" "979748" "subst" "0.0300012" "02326" "AGRN_000007" "g.979748A>T" "" "" "" "AGRN(NM_198576.2):c.2183A>T (p.E728V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1044368A>T" "" "benign" "" "0000251230" "0" "10" "1" "985797" "985797" "subst" "0.018339" "02326" "AGRN_000041" "g.985797A>G" "" "" "" "AGRN(NM_198576.2):c.4977-10A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1050417A>G" "" "benign" "" "0000258995" "0" "10" "1" "990380" "990380" "subst" "0.29133" "02325" "AGRN_000046" "g.990380C>T" "" "" "" "AGRN(NM_198576.4):c.*19C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1055000C>T" "" "benign" "" "0000258996" "0" "10" "1" "977330" "977330" "subst" "0.923495" "02325" "AGRN_000029" "g.977330T>C" "" "" "" "AGRN(NM_198576.4):c.1178-6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1041950T>C" "" "benign" "" "0000258997" "0" "10" "1" "982941" "982941" "subst" "0.896666" "02325" "AGRN_000036" "g.982941T>C" "" "" "" "AGRN(NM_198576.4):c.3517-12T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1047561T>C" "" "benign" "" "0000258998" "0" "10" "1" "982994" "982994" "subst" "0.908881" "02325" "AGRN_000037" "g.982994T>C" "" "" "" "AGRN(NM_198576.4):c.3558T>C (p.F1186=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1047614T>C" "" "benign" "" "0000258999" "0" "10" "1" "986443" "986443" "subst" "0" "02325" "AGRN_000043" "g.986443C>T" "" "" "" "AGRN(NM_198576.4):c.5254-190C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1051063C>T" "" "benign" "" "0000260669" "0" "50" "1" "981633" "981633" "subst" "0" "02326" "AGRN_000034" "g.981633G>C" "" "" "" "AGRN(NM_001305275.2):c.2899G>C (p.G967R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1046253G>C" "" "VUS" "" "0000262077" "0" "30" "1" "981207" "981207" "subst" "0.0000530374" "01943" "AGRN_000032" "g.981207T>C" "" "" "" "AGRN(NM_198576.2):c.2631T>C (p.C877=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1045827T>C" "" "likely benign" "" "0000262078" "0" "50" "1" "983243" "983243" "subst" "0.00190828" "01943" "AGRN_000013" "g.983243C>T" "" "" "" "AGRN(NM_001305275.2):c.3719C>T (p.P1240L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1047863C>T" "" "VUS" "" "0000262079" "0" "30" "1" "983506" "983506" "subst" "0.00497646" "01943" "AGRN_000038" "g.983506C>T" "" "" "" "AGRN(NM_001305275.2):c.3866C>T (p.P1289L), AGRN(NM_198576.3):c.3866C>T (p.(Pro1289Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1048126C>T" "" "likely benign" "" "0000262080" "0" "30" "1" "984814" "984814" "subst" "0.00000426763" "01943" "AGRN_000039" "g.984814C>T" "" "" "" "AGRN(NM_198576.2):c.4497C>T (p.P1499=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1049434C>T" "" "likely benign" "" "0000262082" "0" "30" "1" "989346" "989346" "subst" "0" "01943" "AGRN_000045" "g.989346C>T" "" "" "" "AGRN(NM_198576.2):c.5865C>T (p.V1955=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1053966C>T" "" "likely benign" "" "0000320404" "0" "30" "1" "976110" "976110" "subst" "0" "01804" "AGRN_000028" "g.976110G>A" "" "" "" "AGRN(NM_198576.3):c.577G>A (p.(Ala193Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1040730G>A" "" "likely benign" "" "0000320405" "0" "50" "1" "980807" "980807" "dup" "0" "01804" "AGRN_000031" "g.980807dup" "" "" "" "AGRN(NM_198576.3):c.2439_2440insT (p.(Cys814LeufsTer11))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1045427dup" "" "VUS" "" "0000320406" "0" "50" "1" "981388" "981388" "subst" "0.0000406825" "01804" "AGRN_000033" "g.981388G>A" "" "" "" "AGRN(NM_198576.3):c.2725G>A (p.(Gly909Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1046008G>A" "" "VUS" "" "0000320407" "0" "30" "1" "984815" "984815" "subst" "0.0000853519" "01804" "AGRN_000040" "g.984815G>A" "" "" "" "AGRN(NM_198576.3):c.4498G>A (p.(Glu1500Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1049435G>A" "" "likely benign" "" "0000320408" "0" "50" "1" "985829" "985829" "subst" "0.0000204553" "01804" "AGRN_000042" "g.985829G>A" "" "" "" "AGRN(NM_198576.3):c.4999G>A (p.(Val1667Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1050449G>A" "" "VUS" "" "0000351473" "0" "90" "1" "983155" "983155" "subst" "0.00000860563" "02327" "AGRN_000047" "g.983155G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1047775G>A" "" "pathogenic" "" "0000508747" "0" "30" "1" "976598" "976598" "subst" "0.0045742" "01804" "AGRN_000048" "g.976598C>T" "" "" "" "AGRN(NM_198576.3):c.773C>T (p.(Thr258Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1041218C>T" "" "likely benign" "" "0000508748" "0" "50" "1" "976663" "976663" "subst" "0.00000901112" "01943" "AGRN_000049" "g.976663C>T" "" "" "" "AGRN(NM_001305275.2):c.838C>T (p.P280S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1041283C>T" "" "VUS" "" "0000508759" "0" "30" "1" "978668" "978668" "subst" "0.00268423" "01943" "AGRN_000050" "g.978668G>A" "" "" "" "AGRN(NM_001305275.2):c.1434G>A (p.T478=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1043288G>A" "" "likely benign" "" "0000508762" "0" "30" "1" "978762" "978762" "subst" "0.00764401" "01804" "AGRN_000051" "g.978762G>A" "" "" "" "AGRN(NM_198576.3):c.1528G>A (p.(Gly510Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1043382G>A" "" "likely benign" "" "0000508764" "0" "50" "1" "979280" "979280" "subst" "0" "01943" "AGRN_000052" "g.979280C>G" "" "" "" "AGRN(NM_001305275.2):c.1876C>G (p.P626A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1043900C>G" "" "VUS" "" "0000508766" "0" "30" "1" "979397" "979397" "subst" "0.00282369" "01804" "AGRN_000054" "g.979397G>A" "" "" "" "AGRN(NM_001305275.2):c.1993G>A (p.E665K), AGRN(NM_198576.3):c.1993G>A (p.(Glu665Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1044017G>A" "" "likely benign" "" "0000508779" "0" "50" "1" "981594" "981594" "subst" "0.0000203216" "01943" "AGRN_000056" "g.981594G>A" "" "" "" "AGRN(NM_001305275.2):c.2860G>A (p.A954T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1046214G>A" "" "VUS" "" "0000508783" "0" "30" "1" "982213" "982213" "subst" "0.00642544" "01804" "AGRN_000057" "g.982213G>C" "" "" "" "AGRN(NM_198576.3):c.3264G>C (p.(Leu1088Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1046833G>C" "" "likely benign" "" "0000508784" "0" "30" "1" "982727" "982727" "subst" "0.00000829772" "01804" "AGRN_000058" "g.982727G>A" "" "" "" "AGRN(NM_198576.3):c.3409G>A (p.(Val1137Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1047347G>A" "" "likely benign" "" "0000508789" "0" "30" "1" "983506" "983506" "subst" "0.00497646" "01804" "AGRN_000038" "g.983506C>T" "" "" "" "AGRN(NM_001305275.2):c.3866C>T (p.P1289L), AGRN(NM_198576.3):c.3866C>T (p.(Pro1289Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1048126C>T" "" "likely benign" "" "0000508790" "0" "50" "1" "983550" "983550" "subst" "0.0000757043" "01943" "AGRN_000062" "g.983550G>A" "" "" "" "AGRN(NM_001305275.2):c.3910G>A (p.A1304T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1048170G>A" "" "VUS" "" "0000508793" "0" "30" "1" "984793" "984793" "subst" "0.0000426625" "01943" "AGRN_000065" "g.984793C>T" "" "" "" "AGRN(NM_001305275.2):c.4476C>T (p.D1492=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1049413C>T" "" "likely benign" "" "0000508794" "0" "30" "1" "985266" "985266" "subst" "0.557413" "02325" "AGRN_000066" "g.985266C>T" "" "" "" "AGRN(NM_001364727.2):c.4430-17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1049886C>T" "" "likely benign" "" "0000508795" "0" "50" "1" "985317" "985331" "del" "0" "01804" "AGRN_000067" "g.985317_985331del" "" "" "" "AGRN(NM_198576.3):c.4770_4784del (p.(Gln1593_Cys1597del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1049937_1049951del" "" "VUS" "" "0000508797" "0" "30" "1" "985906" "985906" "subst" "0.0000735769" "01943" "AGRN_000069" "g.985906G>A" "" "" "" "AGRN(NM_001305275.2):c.5076G>A (p.S1692=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1050526G>A" "" "likely benign" "" "0000508798" "0" "30" "1" "986628" "986628" "subst" "0.00225035" "01943" "AGRN_000070" "g.986628C>T" "" "" "" "AGRN(NM_001305275.2):c.5266-5C>T, AGRN(NM_198576.2):c.5254-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1051248C>T" "" "likely benign" "" "0000508799" "0" "50" "1" "986628" "986628" "subst" "0.00225035" "02326" "AGRN_000070" "g.986628C>T" "" "" "" "AGRN(NM_001305275.2):c.5266-5C>T, AGRN(NM_198576.2):c.5254-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1051248C>T" "" "VUS" "" "0000508800" "0" "10" "1" "987200" "987200" "subst" "0.888014" "02325" "AGRN_000071" "g.987200C>T" "" "" "" "AGRN(NM_198576.4):c.5651+5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1051820C>T" "" "benign" "" "0000606024" "0" "30" "1" "979397" "979397" "subst" "0.00282369" "02326" "AGRN_000054" "g.979397G>A" "" "" "" "AGRN(NM_001305275.2):c.1993G>A (p.E665K), AGRN(NM_198576.3):c.1993G>A (p.(Glu665Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1044017G>A" "" "likely benign" "" "0000606029" "0" "30" "1" "981995" "981995" "subst" "0" "01943" "AGRN_000073" "g.981995A>G" "" "" "" "AGRN(NM_001305275.2):c.3130A>G (p.T1044A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1046615A>G" "" "likely benign" "" "0000606031" "0" "30" "1" "984971" "984971" "subst" "0.0078025" "01804" "AGRN_000016" "g.984971G>A" "" "" "" "AGRN(NM_198576.3):c.4540G>A (p.(Ala1514Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1049591G>A" "" "likely benign" "" "0000620708" "0" "30" "1" "976884" "976884" "subst" "0.0000139743" "01943" "AGRN_000072" "g.976884C>T" "" "" "" "AGRN(NM_001364727.1):c.664C>T (p.P222S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1041504C>T" "" "likely benign" "" "0000647803" "1" "30" "1" "978762" "978762" "subst" "0.00764401" "03575" "AGRN_000051" "g.978762G>A" "12/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "12 heterozygous, no homozygous; {DB:CLININrs138288952}" "Germline" "" "rs138288952" "0" "" "" "g.1043382G>A" "" "likely benign" "" "0000647804" "1" "30" "1" "978974" "978974" "subst" "0.00813137" "03575" "AGRN_000074" "g.978974G>A" "27/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "27 heterozygous; {DB:CLININrs79016973}" "Germline" "" "rs79016973" "0" "" "" "g.1043594G>A" "" "likely benign" "" "0000647807" "1" "10" "1" "979748" "979748" "subst" "0.0300012" "03575" "AGRN_000007" "g.979748A>T" "119/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "119 heterozygous, no homozygous; {DB:CLININrs113288277}" "Germline" "" "rs113288277" "0" "" "" "g.1044368A>T" "" "benign" "" "0000647811" "1" "30" "1" "980824" "980824" "subst" "0.0106014" "03575" "AGRN_000075" "g.980824G>C" "58/2789 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "58 heterozygous; {DB:CLININrs112039851}" "Germline" "" "rs112039851" "0" "" "" "g.1045444G>C" "" "likely benign" "" "0000647812" "1" "50" "1" "980868" "980868" "subst" "0.0011326" "03575" "AGRN_000076" "g.980868G>A" "13/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "13 heterozygous, no homozygous; {DB:CLININrs146243145}" "Germline" "" "rs146243145" "0" "" "" "g.1045488G>A" "" "VUS" "" "0000647814" "1" "30" "1" "984971" "984971" "subst" "0.0078025" "03575" "AGRN_000016" "g.984971G>A" "8/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "8 heterozygous, no homozygous; {DB:CLININrs111818381}" "Germline" "" "rs111818381" "0" "" "" "g.1049591G>A" "" "likely benign" "" "0000647815" "1" "50" "1" "986918" "986918" "subst" "0.000123151" "03575" "AGRN_000077" "g.986918C>T" "4/2777 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "4 heterozygous, no homozygous; {DB:CLININrs72900459}" "Germline" "" "rs72900459" "0" "" "" "g.1051538C>T" "" "VUS" "" "0000659563" "0" "50" "1" "981885" "981885" "subst" "0" "01164" "AGRN_000078" "g.981885C>G" "" "" "" "" "no second variant detected" "Germline" "" "" "0" "" "" "g.1046505C>G" "" "VUS" "ACMG" "0000669036" "3" "30" "1" "978974" "978974" "subst" "0.00813137" "03575" "AGRN_000074" "g.978974G>A" "1/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs79016973}" "Germline" "" "rs79016973" "0" "" "" "g.1043594G>A" "" "likely benign" "" "0000669039" "3" "30" "1" "980824" "980824" "subst" "0.0106014" "03575" "AGRN_000075" "g.980824G>C" "2/2789 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 homozygous; {DB:CLININrs112039851}" "Germline" "" "rs112039851" "0" "" "" "g.1045444G>C" "" "likely benign" "" "0000675962" "0" "50" "1" "955724" "955724" "subst" "0.000223056" "01804" "AGRN_000003" "g.955724G>A" "" "" "" "AGRN(NM_001305275.2):c.172G>A (p.D58N), AGRN(NM_198576.3):c.172G>A (p.(Asp58Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000675964" "0" "30" "1" "977329" "977329" "subst" "0.00102002" "01943" "AGRN_000082" "g.977329G>A" "" "" "" "AGRN(NM_001364727.1):c.863-7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000675972" "0" "30" "1" "983686" "983686" "subst" "0" "01943" "AGRN_000083" "g.983686T>C" "" "" "" "AGRN(NM_001364727.1):c.3731T>C (p.L1244S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000675975" "0" "50" "1" "986921" "986921" "subst" "0" "01943" "AGRN_000084" "g.986921G>A" "" "" "" "AGRN(NM_001364727.1):c.5156G>A (p.R1719Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000688272" "0" "30" "1" "982753" "982753" "subst" "0" "01943" "AGRN_000085" "g.982753C>T" "" "" "" "AGRN(NM_001364727.1):c.3120C>T (p.G1040=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717757" "0" "50" "1" "955724" "955724" "subst" "0.000223056" "01943" "AGRN_000003" "g.955724G>A" "" "" "" "AGRN(NM_001305275.2):c.172G>A (p.D58N), AGRN(NM_198576.3):c.172G>A (p.(Asp58Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000717758" "0" "50" "1" "976966" "976966" "subst" "0.00000853104" "01804" "AGRN_000086" "g.976966C>T" "" "" "" "AGRN(NM_198576.3):c.1061C>T (p.(Ala354Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000717763" "0" "30" "1" "978774" "978774" "subst" "0.000171965" "01943" "AGRN_000087" "g.978774G>A" "" "" "" "AGRN(NM_001364727.1):c.1225G>A (p.E409K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717768" "0" "30" "1" "980557" "980557" "subst" "0.000174092" "01943" "AGRN_000088" "g.980557G>A" "" "" "" "AGRN(NM_001364727.1):c.1956G>A (p.P652=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717769" "0" "30" "1" "981814" "981814" "subst" "0.00000822592" "01943" "AGRN_000089" "g.981814C>G" "" "" "" "AGRN(NM_001364727.1):c.2634C>G (p.S878=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717770" "0" "50" "1" "981852" "981852" "subst" "0.000476953" "01943" "AGRN_000090" "g.981852C>A" "" "" "" "AGRN(NM_001364727.1):c.2672C>A (p.A891E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000717771" "0" "30" "1" "983435" "983435" "subst" "0.000034957" "01943" "AGRN_000091" "g.983435T>A" "" "" "" "AGRN(NM_001364727.1):c.3480T>A (p.I1160=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717772" "0" "30" "1" "984247" "984247" "subst" "0" "01943" "AGRN_000092" "g.984247T>G" "" "" "" "AGRN(NM_198576.2):c.4106T>G (p.V1369G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717773" "0" "30" "1" "984669" "984669" "subst" "0.00348858" "01943" "AGRN_000015" "g.984669C>T" "" "" "" "AGRN(NM_001305275.2):c.4352C>T (p.P1451L), AGRN(NM_198576.3):c.4352C>T (p.(Pro1451Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717775" "0" "50" "1" "985657" "985657" "subst" "0.000105858" "02325" "AGRN_000094" "g.985657G>A" "" "" "" "AGRN(NM_198576.4):c.4924G>A (p.G1642S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000717776" "0" "50" "1" "985886" "985886" "subst" "0.0000204212" "02325" "AGRN_000095" "g.985886G>A" "" "" "" "AGRN(NM_198576.4):c.5056G>A (p.G1686S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000717777" "0" "50" "1" "989259" "989259" "subst" "0" "02329" "AGRN_000044" "g.989259G>A" "" "" "" "AGRN(NM_001305275.2):c.5847G>A (p.G1949=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000787193" "1" "50" "1" "983701" "983701" "subst" "0.000176007" "00006" "AGRN_000096" "g.983701C>A" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "rs766470739" "0" "" "" "g.1048321C>A" "" "VUS" "" "0000787558" "2" "50" "1" "989347" "989347" "subst" "0" "00000" "AGRN_000097" "g.989347G>A" "" "0" "" "" "" "Germline" "" "rs773243053" "0" "" "" "g.1053967G>A" "" "VUS" "" "0000799577" "0" "50" "1" "976129" "976131" "del" "0" "01943" "AGRN_000098" "g.976129_976131del" "" "" "" "AGRN(NM_001364727.1):c.281_283delAGA (p.K94del), AGRN(NM_198576.3):c.592_594del (p.(Lys199del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000799579" "0" "30" "1" "977489" "977489" "subst" "0" "01804" "AGRN_000099" "g.977489A>G" "" "" "" "AGRN(NM_198576.3):c.1331A>G (p.(Gln444Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000799587" "0" "30" "1" "978713" "978713" "subst" "0.0000259287" "01943" "AGRN_000100" "g.978713G>A" "" "" "" "AGRN(NM_001305275.2):c.1479G>A (p.A493=), AGRN(NM_198576.3):c.1479G>A (p.(Ala493=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000799589" "0" "30" "1" "979784" "979784" "subst" "0.00024705" "01804" "AGRN_000101" "g.979784G>A" "" "" "" "AGRN(NM_198576.3):c.2219G>A (p.(Arg740Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000799592" "0" "50" "1" "980552" "980552" "subst" "0.00123971" "01943" "AGRN_000102" "g.980552G>A" "" "" "" "AGRN(NM_198576.2):c.2266G>A (p.A756T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000799593" "0" "50" "1" "980628" "980628" "subst" "0" "01943" "AGRN_000103" "g.980628C>A" "" "" "" "AGRN(NM_001305275.2):c.2342C>A (p.A781D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000799594" "0" "30" "1" "981459" "981459" "subst" "0.000548754" "01943" "AGRN_000104" "g.981459C>T" "" "" "" "AGRN(NM_198576.2):c.2796C>T (p.N932=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000799595" "0" "50" "1" "981563" "981563" "subst" "0.0000203118" "01943" "AGRN_000105" "g.981563A>G" "" "" "" "AGRN(NM_001305275.2):c.2829A>G (p.T943=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000799596" "0" "30" "1" "984655" "984655" "subst" "0.0000813251" "01943" "AGRN_000106" "g.984655C>T" "" "" "" "AGRN(NM_198576.2):c.4338C>T (p.A1446=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000799597" "0" "50" "1" "985958" "985958" "subst" "0.00000413223" "01943" "AGRN_000107" "g.985958G>T" "" "" "" "AGRN(NM_198576.2):c.5128G>T (p.A1710S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000799598" "0" "30" "1" "986160" "986160" "subst" "0" "01943" "AGRN_000108" "g.986160C>T" "" "" "" "AGRN(NM_198576.2):c.5196C>T (p.N1732=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000799599" "0" "50" "1" "986645" "986645" "subst" "0" "01943" "AGRN_000109" "g.986645G>A" "" "" "" "AGRN(NM_001364727.1):c.4963G>A (p.V1655I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000799600" "0" "30" "1" "989295" "989295" "subst" "0.00130788" "01943" "AGRN_000110" "g.989295C>T" "" "" "" "AGRN(NM_001364727.1):c.5511C>T (p.P1837=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000832699" "0" "70" "1" "989332" "989332" "subst" "0.0000220862" "04188" "AGRN_000111" "g.989332C>T" "" "{PMID:Ferese 2021:34354735}" "" "" "ACMG: PM2-PP3-BP1" "Unknown" "" "rs746117937" "0" "" "" "g.1053952C>T" "SCV001377285.1" "VUS" "ACMG" "0000844711" "0" "70" "1" "982737" "982737" "subst" "0" "04292" "AGRN_000112" "g.982737T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000848895" "0" "50" "1" "985377" "985377" "subst" "0.00276099" "01943" "AGRN_000116" "g.985377C>T" "" "" "" "AGRN(NM_001364727.1):c.4524C>T (p.C1508=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000848896" "0" "10" "1" "986165" "986165" "subst" "0.00354939" "02326" "AGRN_000022" "g.986165G>A" "" "" "" "AGRN(NM_198576.2):c.5201G>A (p.R1734H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000848897" "0" "30" "1" "986431" "986431" "subst" "0" "01943" "AGRN_000117" "g.986431C>T" "" "" "" "AGRN(NM_001305275.2):c.5265+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000857645" "0" "30" "1" "977028" "977028" "subst" "0.00490379" "02326" "AGRN_000006" "g.977028G>T" "" "" "" "AGRN(NM_198576.2):c.1123G>T (p.A375S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000857647" "0" "30" "1" "978713" "978713" "subst" "0.0000259287" "01804" "AGRN_000100" "g.978713G>A" "" "" "" "AGRN(NM_001305275.2):c.1479G>A (p.A493=), AGRN(NM_198576.3):c.1479G>A (p.(Ala493=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000857648" "0" "50" "1" "979552" "979552" "subst" "0.0000162819" "01943" "AGRN_000113" "g.979552G>A" "" "" "" "AGRN(NM_001305275.2):c.2063G>A (p.R688Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000857651" "0" "50" "1" "982274" "982274" "subst" "0" "01943" "AGRN_000114" "g.982274G>A" "" "" "" "AGRN(NM_001305275.2):c.3325G>A (p.A1109T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000857652" "0" "30" "1" "982704" "982704" "subst" "0" "01943" "AGRN_000115" "g.982704C>T" "" "" "" "AGRN(NM_198576.2):c.3389-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000857653" "0" "10" "1" "982783" "982783" "subst" "0.00480726" "02327" "AGRN_000059" "g.982783T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000857654" "0" "30" "1" "983506" "983506" "subst" "0.00497646" "02327" "AGRN_000038" "g.983506C>T" "" "" "" "AGRN(NM_001305275.2):c.3866C>T (p.P1289L), AGRN(NM_198576.3):c.3866C>T (p.(Pro1289Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000857655" "0" "10" "1" "987142" "987142" "subst" "0.00492919" "02327" "AGRN_000118" "g.987142C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000883669" "0" "10" "1" "957898" "957898" "subst" "0" "02327" "AGRN_000025" "g.957898G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000883670" "0" "30" "1" "976129" "976131" "del" "0" "01804" "AGRN_000098" "g.976129_976131del" "" "" "" "AGRN(NM_001364727.1):c.281_283delAGA (p.K94del), AGRN(NM_198576.3):c.592_594del (p.(Lys199del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883679" "0" "30" "1" "981353" "981353" "subst" "0.00198838" "01804" "AGRN_000119" "g.981353C>T" "" "" "" "AGRN(NM_198576.3):c.2690C>T (p.(Ala897Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883680" "0" "30" "1" "982969" "982969" "subst" "0.000597823" "02326" "AGRN_000120" "g.982969G>A" "" "" "" "AGRN(NM_198576.2):c.3533G>A (p.R1178Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883681" "0" "30" "1" "984445" "984527" "del" "0" "02326" "AGRN_000121" "g.984445_984527del" "" "" "" "AGRN(NM_198576.2):c.4290_4298+74del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883682" "0" "30" "1" "984669" "984669" "subst" "0.00348858" "01804" "AGRN_000015" "g.984669C>T" "" "" "" "AGRN(NM_001305275.2):c.4352C>T (p.P1451L), AGRN(NM_198576.3):c.4352C>T (p.(Pro1451Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883683" "0" "30" "1" "985826" "985826" "subst" "0.0108255" "01804" "AGRN_000018" "g.985826G>A" "" "" "" "AGRN(NM_198576.3):c.4996G>A (p.(Val1666Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes AGRN ## Count = 137 "{{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}}" "0000061909" "00002246" "10" "45" "0" "45" "0" "c.45G>T" "r.(?)" "p.(=)" "1" "0000061910" "00002246" "10" "463" "56" "463" "56" "c.463+56G>T" "r.(?)" "p.(=)" "2i" "0000088118" "00002246" "10" "67" "0" "67" "0" "c.67G>Y" "r.(?)" "p.(Val23Leu)" "1" "0000088119" "00002246" "10" "172" "0" "172" "0" "c.172G>A" "r.(?)" "p.(Asp58Asn)" "1" "0000088120" "00002246" "10" "314" "0" "314" "0" "c.314A>T" "r.(?)" "p.(Asn105Ile)" "2" "0000088121" "00002246" "10" "800" "0" "800" "0" "c.800C>T" "r.(?)" "p.(Thr267Met)" "5" "0000088122" "00002246" "10" "1123" "0" "1123" "0" "c.1123G>T" "r.(?)" "p.(Ala375Ser)" "6" "0000088123" "00002246" "10" "2183" "0" "2183" "0" "c.2183A>T" "r.(?)" "p.(Glu728Val)" "12" "0000088124" "00002246" "10" "2555" "0" "2555" "0" "c.2555A>G" "r.(?)" "p.(Gln852Arg)" "15" "0000088125" "00002246" "10" "2950" "0" "2950" "0" "c.2950G>A" "r.(?)" "p.(Val984Met)" "18" "0000088126" "00002246" "10" "3264" "0" "3264" "0" "c.3264G>Y" "r.(?)" "p.(Leu1088Phe)" "19" "0000088127" "00002246" "10" "3353" "0" "3353" "0" "c.3353C>A" "r.(?)" "p.(Thr1118Lys)" "19" "0000088128" "00002246" "10" "3404" "0" "3404" "0" "c.3404A>G" "r.(?)" "p.(Gln1135Arg)" "20" "0000088129" "00002246" "10" "3719" "0" "3719" "0" "c.3719C>T" "r.(?)" "p.(Pro1240Leu)" "22" "0000088130" "00002246" "10" "4021" "0" "4021" "0" "c.4021G>M" "r.(?)" "p.(Gly1341Arg)" "23" "0000088131" "00002246" "10" "4352" "0" "4352" "0" "c.4352C>T" "r.(?)" "p.(Pro1451Leu)" "25" "0000088132" "00002246" "10" "4540" "0" "4540" "0" "c.4540G>A" "r.(?)" "p.(Ala1514Thr)" "26" "0000088133" "00002246" "10" "4695" "0" "4695" "0" "c.4695G>Y" "r.(?)" "p.(Gln1565His)" "26" "0000088134" "00002246" "10" "4996" "0" "4996" "0" "c.4996G>A" "r.(?)" "p.(Val1666Ile)" "29" "0000088135" "00002246" "10" "5012" "0" "5012" "0" "c.5012G>A" "r.(?)" "p.(Arg1671Gln)" "29" "0000088136" "00002246" "10" "5093" "0" "5093" "0" "c.5093G>C" "r.(?)" "p.(Arg1698Pro)" "29" "0000088137" "00002246" "90" "5125" "0" "5125" "0" "c.5125G>C" "r.(?)" "p.(Gly1709Arg)" "29" "0000088138" "00002246" "90" "5125" "0" "5125" "0" "c.5125G>C" "r.(?)" "p.(Gly1709Arg)" "29" "0000088139" "00002246" "10" "5125" "0" "5125" "0" "c.5125G>C" "r.(?)" "p.(Gly1709Arg)" "29" "0000088140" "00002246" "10" "5201" "0" "5201" "0" "c.5201G>A" "r.(?)" "p.(Arg1734His)" "30" "0000088141" "00002246" "10" "5353" "0" "5353" "0" "c.5353G>A" "r.(?)" "p.(Asp1785Asn)" "31" "0000088142" "00002246" "10" "6068" "0" "6068" "0" "c.6068G>T" "r.(?)" "p.(Gly2023Val)" "36" "0000088159" "00002246" "90" "5125" "0" "5125" "0" "c.5125G>C" "r.(?)" "p.(Gly1709Arg)" "29" "0000088160" "00002246" "90" "5125" "0" "5125" "0" "c.5125G>C" "r.(?)" "p.(Gly1709Arg)" "29" "0000088163" "00002246" "30" "5125" "0" "5125" "0" "c.5125G>C" "r.(?)" "p.Gly1709Arg" "29" "0000088164" "00002246" "30" "5125" "0" "5125" "0" "c.5125G>C" "r.(?)" "p.Gly1709Arg" "29" "0000088165" "00002246" "90" "5125" "0" "5125" "0" "c.5125G>C" "r.(?)" "p.Gly1709Arg" "29" "0000128826" "00002246" "90" "5302" "0" "5302" "0" "c.5302G>C" "r.(?)" "p.(Ala1768Pro)" "31" "0000248490" "00002246" "10" "3066" "0" "3066" "0" "c.3066A>G" "r.(?)" "p.(Ser1022=)" "" "0000251071" "00002246" "10" "2183" "0" "2183" "0" "c.2183A>T" "r.(?)" "p.(Glu728Val)" "" "0000251230" "00002246" "10" "4977" "-10" "4977" "-10" "c.4977-10A>G" "r.(=)" "p.(=)" "" "0000258995" "00002246" "10" "6157" "0" "6157" "0" "c.*19C>T" "r.(=)" "p.(=)" "" "0000258996" "00002246" "10" "1178" "-6" "1178" "-6" "c.1178-6T>C" "r.(=)" "p.(=)" "" "0000258997" "00002246" "10" "3517" "-12" "3517" "-12" "c.3517-12T>C" "r.(=)" "p.(=)" "" "0000258998" "00002246" "10" "3558" "0" "3558" "0" "c.3558T>C" "r.(?)" "p.(Phe1186=)" "" "0000258999" "00002246" "10" "5254" "-190" "5254" "-190" "c.5254-190C>T" "r.(=)" "p.(=)" "" "0000260669" "00002246" "50" "2899" "0" "2899" "0" "c.2899G>C" "r.(?)" "p.(Gly967Arg)" "" "0000262077" "00002246" "30" "2631" "0" "2631" "0" "c.2631T>C" "r.(?)" "p.(Cys877=)" "" "0000262078" "00002246" "50" "3719" "0" "3719" "0" "c.3719C>T" "r.(?)" "p.(Pro1240Leu)" "" "0000262079" "00002246" "30" "3866" "0" "3866" "0" "c.3866C>T" "r.(?)" "p.(Pro1289Leu)" "" "0000262080" "00002246" "30" "4497" "0" "4497" "0" "c.4497C>T" "r.(?)" "p.(Pro1499=)" "" "0000262082" "00002246" "30" "5865" "0" "5865" "0" "c.5865C>T" "r.(?)" "p.(Val1955=)" "" "0000320404" "00002246" "30" "577" "0" "577" "0" "c.577G>A" "r.(?)" "p.(Ala193Thr)" "" "0000320405" "00002246" "50" "2440" "0" "2440" "0" "c.2440dup" "r.(?)" "p.(Cys814LeufsTer11)" "" "0000320406" "00002246" "50" "2725" "0" "2725" "0" "c.2725G>A" "r.(?)" "p.(Gly909Ser)" "" "0000320407" "00002246" "30" "4498" "0" "4498" "0" "c.4498G>A" "r.(?)" "p.(Glu1500Lys)" "" "0000320408" "00002246" "50" "4999" "0" "4999" "0" "c.4999G>A" "r.(?)" "p.(Val1667Met)" "" "0000351473" "00002246" "90" "3632" "-1" "3632" "-1" "c.3632-1G>A" "r.spl?" "p.?" "" "0000508747" "00002246" "30" "773" "0" "773" "0" "c.773C>T" "r.(?)" "p.(Thr258Ile)" "" "0000508748" "00002246" "50" "838" "0" "838" "0" "c.838C>T" "r.(?)" "p.(Pro280Ser)" "" "0000508759" "00002246" "30" "1434" "0" "1434" "0" "c.1434G>A" "r.(?)" "p.(Thr478=)" "" "0000508762" "00002246" "30" "1528" "0" "1528" "0" "c.1528G>A" "r.(?)" "p.(Gly510Ser)" "" "0000508764" "00002246" "50" "1876" "0" "1876" "0" "c.1876C>G" "r.(?)" "p.(Pro626Ala)" "" "0000508766" "00002246" "30" "1993" "0" "1993" "0" "c.1993G>A" "r.(?)" "p.(Glu665Lys)" "" "0000508779" "00002246" "50" "2860" "0" "2860" "0" "c.2860G>A" "r.(?)" "p.(Ala954Thr)" "" "0000508783" "00002246" "30" "3264" "0" "3264" "0" "c.3264G>C" "r.(?)" "p.(Leu1088Phe)" "" "0000508784" "00002246" "30" "3409" "0" "3409" "0" "c.3409G>A" "r.(?)" "p.(Val1137Ile)" "" "0000508789" "00002246" "30" "3866" "0" "3866" "0" "c.3866C>T" "r.(?)" "p.(Pro1289Leu)" "" "0000508790" "00002246" "50" "3910" "0" "3910" "0" "c.3910G>A" "r.(?)" "p.(Ala1304Thr)" "" "0000508793" "00002246" "30" "4476" "0" "4476" "0" "c.4476C>T" "r.(?)" "p.(Asp1492=)" "" "0000508794" "00002246" "30" "4745" "-17" "4745" "-17" "c.4745-17C>T" "r.(=)" "p.(=)" "" "0000508795" "00002246" "50" "4779" "0" "4793" "0" "c.4779_4793del" "r.(?)" "p.(Gln1593_Cys1597del)" "" "0000508797" "00002246" "30" "5076" "0" "5076" "0" "c.5076G>A" "r.(?)" "p.(Ser1692=)" "" "0000508798" "00002246" "30" "5254" "-5" "5254" "-5" "c.5254-5C>T" "r.spl?" "p.?" "" "0000508799" "00002246" "50" "5254" "-5" "5254" "-5" "c.5254-5C>T" "r.spl?" "p.?" "" "0000508800" "00002246" "10" "5651" "5" "5651" "5" "c.5651+5C>T" "r.spl?" "p.?" "" "0000606024" "00002246" "30" "1993" "0" "1993" "0" "c.1993G>A" "r.(?)" "p.(Glu665Lys)" "" "0000606029" "00002246" "30" "3130" "0" "3130" "0" "c.3130A>G" "r.(?)" "p.(Thr1044Ala)" "" "0000606031" "00002246" "30" "4540" "0" "4540" "0" "c.4540G>A" "r.(?)" "p.(Ala1514Thr)" "" "0000620708" "00002246" "30" "979" "0" "979" "0" "c.979C>T" "r.(?)" "p.(Pro327Ser)" "" "0000647803" "00002246" "30" "1528" "0" "1528" "0" "c.1528G>A" "r.(?)" "p.(Gly510Ser)" "" "0000647804" "00002246" "30" "1660" "0" "1660" "0" "c.1660G>A" "r.(?)" "p.(Val554Met)" "" "0000647807" "00002246" "10" "2183" "0" "2183" "0" "c.2183A>T" "r.(?)" "p.(Glu728Val)" "" "0000647811" "00002246" "30" "2457" "0" "2457" "0" "c.2457G>C" "r.(=)" "p.(=)" "" "0000647812" "00002246" "50" "2501" "0" "2501" "0" "c.2501G>A" "r.(?)" "p.(Arg834Gln)" "" "0000647814" "00002246" "30" "4540" "0" "4540" "0" "c.4540G>A" "r.(?)" "p.(Ala1514Thr)" "" "0000647815" "00002246" "50" "5456" "0" "5456" "0" "c.5456C>T" "r.(?)" "p.(Thr1819Ile)" "" "0000659563" "00002246" "50" "3020" "0" "3020" "0" "c.3020C>G" "r.(?)" "p.(Ala1007Gly)" "" "0000669036" "00002246" "30" "1660" "0" "1660" "0" "c.1660G>A" "r.(?)" "p.(Val554Met)" "" "0000669039" "00002246" "30" "2457" "0" "2457" "0" "c.2457G>C" "r.(=)" "p.(=)" "" "0000675962" "00002246" "50" "172" "0" "172" "0" "c.172G>A" "r.(?)" "p.(Asp58Asn)" "" "0000675964" "00002246" "30" "1178" "-7" "1178" "-7" "c.1178-7G>A" "r.(=)" "p.(=)" "" "0000675972" "00002246" "30" "4046" "0" "4046" "0" "c.4046T>C" "r.(?)" "p.(Leu1349Ser)" "" "0000675975" "00002246" "50" "5459" "0" "5459" "0" "c.5459G>A" "r.(?)" "p.(Arg1820Gln)" "" "0000688272" "00002246" "30" "3435" "0" "3435" "0" "c.3435C>T" "r.(?)" "p.(Gly1145=)" "" "0000717757" "00002246" "50" "172" "0" "172" "0" "c.172G>A" "r.(?)" "p.(Asp58Asn)" "" "0000717758" "00002246" "50" "1061" "0" "1061" "0" "c.1061C>T" "r.(?)" "p.(Ala354Val)" "" "0000717763" "00002246" "30" "1540" "0" "1540" "0" "c.1540G>A" "r.(?)" "p.(Glu514Lys)" "" "0000717768" "00002246" "30" "2271" "0" "2271" "0" "c.2271G>A" "r.(?)" "p.(Pro757=)" "" "0000717769" "00002246" "30" "2949" "0" "2949" "0" "c.2949C>G" "r.(?)" "p.(Ser983=)" "" "0000717770" "00002246" "50" "2987" "0" "2987" "0" "c.2987C>A" "r.(?)" "p.(Ala996Glu)" "" "0000717771" "00002246" "30" "3795" "0" "3795" "0" "c.3795T>A" "r.(?)" "p.(Ile1265=)" "" "0000717772" "00002246" "30" "4106" "0" "4106" "0" "c.4106T>G" "r.(?)" "p.(Val1369Gly)" "" "0000717773" "00002246" "30" "4352" "0" "4352" "0" "c.4352C>T" "r.(?)" "p.(Pro1451Leu)" "" "0000717775" "00002246" "50" "4924" "0" "4924" "0" "c.4924G>A" "r.(?)" "p.(Gly1642Ser)" "" "0000717776" "00002246" "50" "5056" "0" "5056" "0" "c.5056G>A" "r.(?)" "p.(Gly1686Ser)" "" "0000717777" "00002246" "50" "5778" "0" "5778" "0" "c.5778G>A" "r.(?)" "p.(Gly1926=)" "" "0000787193" "00002246" "50" "4061" "0" "4061" "0" "c.4061C>A" "r.(?)" "p.(Thr1354Asn)" "23" "0000787558" "00002246" "50" "5866" "0" "5866" "0" "c.5866G>A" "r.(?)" "p.(Val1956Met)" "34" "0000799577" "00002246" "50" "596" "0" "598" "0" "c.596_598del" "r.(?)" "p.(Lys199del)" "" "0000799579" "00002246" "30" "1331" "0" "1331" "0" "c.1331A>G" "r.(?)" "p.(Gln444Arg)" "" "0000799587" "00002246" "30" "1479" "0" "1479" "0" "c.1479G>A" "r.(?)" "p.(Ala493=)" "" "0000799589" "00002246" "30" "2219" "0" "2219" "0" "c.2219G>A" "r.(?)" "p.(Arg740Gln)" "" "0000799592" "00002246" "50" "2266" "0" "2266" "0" "c.2266G>A" "r.(?)" "p.(Ala756Thr)" "" "0000799593" "00002246" "50" "2342" "0" "2342" "0" "c.2342C>A" "r.(?)" "p.(Ala781Asp)" "" "0000799594" "00002246" "30" "2796" "0" "2796" "0" "c.2796C>T" "r.(?)" "p.(Asn932=)" "" "0000799595" "00002246" "50" "2829" "0" "2829" "0" "c.2829A>G" "r.(?)" "p.(Thr943=)" "" "0000799596" "00002246" "30" "4338" "0" "4338" "0" "c.4338C>T" "r.(?)" "p.(Ala1446=)" "" "0000799597" "00002246" "50" "5128" "0" "5128" "0" "c.5128G>T" "r.(?)" "p.(Ala1710Ser)" "" "0000799598" "00002246" "30" "5196" "0" "5196" "0" "c.5196C>T" "r.(?)" "p.(Asn1732=)" "" "0000799599" "00002246" "50" "5266" "0" "5266" "0" "c.5266G>A" "r.(?)" "p.(Val1756Ile)" "" "0000799600" "00002246" "30" "5814" "0" "5814" "0" "c.5814C>T" "r.(?)" "p.(Pro1938=)" "" "0000832699" "00002246" "70" "5851" "0" "5851" "0" "c.5851C>T" "r.(?)" "p.(Arg1951Cys)" "" "0000844711" "00002246" "70" "3419" "0" "3419" "0" "c.3419T>C" "r.(?)" "p.(Leu1140Pro)" "" "0000848895" "00002246" "50" "4839" "0" "4839" "0" "c.4839C>T" "r.(?)" "p.(Cys1613=)" "" "0000848896" "00002246" "10" "5201" "0" "5201" "0" "c.5201G>A" "r.(?)" "p.(Arg1734His)" "" "0000848897" "00002246" "30" "5254" "-202" "5254" "-202" "c.5254-202C>T" "r.(=)" "p.(=)" "" "0000857645" "00002246" "30" "1123" "0" "1123" "0" "c.1123G>T" "r.(?)" "p.(Ala375Ser)" "" "0000857647" "00002246" "30" "1479" "0" "1479" "0" "c.1479G>A" "r.(?)" "p.(Ala493=)" "" "0000857648" "00002246" "50" "2063" "0" "2063" "0" "c.2063G>A" "r.(?)" "p.(Arg688Gln)" "" "0000857651" "00002246" "50" "3325" "0" "3325" "0" "c.3325G>A" "r.(?)" "p.(Ala1109Thr)" "" "0000857652" "00002246" "30" "3389" "-3" "3389" "-3" "c.3389-3C>T" "r.spl?" "p.?" "" "0000857653" "00002246" "10" "3465" "0" "3465" "0" "c.3465T>C" "r.(?)" "p.(Ala1155=)" "" "0000857654" "00002246" "30" "3866" "0" "3866" "0" "c.3866C>T" "r.(?)" "p.(Pro1289Leu)" "" "0000857655" "00002246" "10" "5598" "0" "5598" "0" "c.5598C>T" "r.(?)" "p.(Thr1866=)" "" "0000883669" "00002246" "10" "463" "56" "463" "56" "c.463+56G>T" "r.(=)" "p.(=)" "" "0000883670" "00002246" "30" "596" "0" "598" "0" "c.596_598del" "r.(?)" "p.(Lys199del)" "" "0000883679" "00002246" "30" "2690" "0" "2690" "0" "c.2690C>T" "r.(?)" "p.(Ala897Val)" "" "0000883680" "00002246" "30" "3533" "0" "3533" "0" "c.3533G>A" "r.(?)" "p.(Arg1178Gln)" "" "0000883681" "00002246" "30" "4298" "6" "4298" "88" "c.4298+6_4298+88del" "r.(=)" "p.(=)" "" "0000883682" "00002246" "30" "4352" "0" "4352" "0" "c.4352C>T" "r.(?)" "p.(Pro1451Leu)" "" "0000883683" "00002246" "30" "4996" "0" "4996" "0" "c.4996G>A" "r.(?)" "p.(Val1666Ile)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 44 "{{screeningid}}" "{{variantid}}" "0000034790" "0000061909" "0000034791" "0000061910" "0000057824" "0000088118" "0000057825" "0000088119" "0000057826" "0000088120" "0000057827" "0000088121" "0000057828" "0000088122" "0000057829" "0000088123" "0000057830" "0000088124" "0000057831" "0000088125" "0000057832" "0000088126" "0000057833" "0000088127" "0000057834" "0000088128" "0000057835" "0000088129" "0000057836" "0000088130" "0000057837" "0000088131" "0000057838" "0000088132" "0000057839" "0000088133" "0000057840" "0000088134" "0000057841" "0000088135" "0000057842" "0000088136" "0000057843" "0000088137" "0000057843" "0000088159" "0000057844" "0000088138" "0000057844" "0000088160" "0000057845" "0000088139" "0000057846" "0000088140" "0000057847" "0000088141" "0000057848" "0000088142" "0000079946" "0000128826" "0000291114" "0000647803" "0000291115" "0000647804" "0000291118" "0000647807" "0000291122" "0000647811" "0000291123" "0000647812" "0000291125" "0000647814" "0000291126" "0000647815" "0000296913" "0000659563" "0000305348" "0000669036" "0000305351" "0000669039" "0000375842" "0000787193" "0000375842" "0000787558" "0000399994" "0000832699" "0000407888" "0000844711"