### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = GLE1) # 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}}" "GLE1" "GLE1 RNA export mediator homolog (yeast)" "9" "q34.13" "no" "NG_012073.1" "UD_132119073817" "{PMID:Nousiainen 2008:18204449}" "https://www.LOVD.nl/GLE1" "Finnish Disease Database (FinDis) " "1" "4315" "2733" "603371" "1" "1" "1" "1" "The establishment of this gene variant database (LSDB) was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement nº 200754 - the GEN2PHEN project.\r\n\r\nThis database was initially part of the Finnish Disease Resource (FinDis; Polvi et al: Hum Mutat. 2013:34:1458-66). We gratefully acknowledge the support of Juha Muilu acting as curator until 2015." "" "g" "https://databases.lovd.nl/shared/refseq/GLE1_NM_001003722.1_codingDNA.html" "1" "" "" "-1" "" "-1" "00006" "2010-04-29 00:00:00" "00006" "2020-07-21 20:46:03" "00000" "2025-05-05 21:14:00" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000247" "GLE1" "transcript variant 1" "001" "NM_001003722.1" "" "NP_001003722.1" "" "" "" "-114" "3228" "2097" "131266971" "131304580" "00006" "2012-06-29 14:21:17" "" "" ## 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}}" "00007" "LCCS1" "contracture syndrome, lethal, congenital, type 1" "AR" "253310" "" "" "" "00006" "2012-06-29 14:23:06" "00006" "2023-08-06 22:40:03" "00008" "CAAHD" "arthrogryposis, lethal, with anterior horn cell, congenital (CAAHD)" "AR" "611890" "" "" "" "00006" "2012-06-29 14:23:57" "00006" "2020-07-21 21:34:09" "00026" "arthrogryposis" "arthrogryposis" "" "" "" "" "" "00001" "2012-08-03 16:49:36" "00006" "2019-01-04 15:23:51" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "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 = 4 "{{geneid}}" "{{diseaseid}}" "GLE1" "00007" "GLE1" "00008" "GLE1" "00026" "GLE1" "04255" ## Individuals ## Do not remove or alter this header ## ## Count = 53 "{{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}}" "00016592" "" "" "" "2" "" "00638" "{PMID:Ellard 2015:24961629}, {DOI:Ellard 2015:10.1038/ejhg.2014.120}" "couple, 2 affected fetuses, both terminated at 15-20 weeks gestation" "-" "no" "United Kingdom (Great Britain)" "00y00m00d" "0" "" "" "white European" "Fam1" "00038399" "" "" "" "1" "" "00015" "{PMID:Kaneb 2015:25343993}" "" "?" "?" "" "63y" "0" "" "" "" "" "00038400" "" "" "" "2" "" "00015" "{PMID:Kaneb 2015:25343993}" "3-generation family, 2 affected sisters (deceased 53y and 66y)" "F" "no" "Canada" "" "0" "" "" "" "FamALS-34" "00038401" "" "" "" "1" "" "00015" "{PMID:Kaneb 2015:25343993}" "" "" "" "(Canada)" "" "0" "" "" "white" "" "00095112" "" "" "" "1" "" "01586" "" "" "" "?" "" "" "0" "Yes" "" "" "" "00294747" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00300328" "" "" "" "1" "" "03534" "" "" "" "" "" "" "0" "" "" "" "" "00300329" "" "" "" "1" "" "03534" "" "" "" "" "" "" "0" "" "" "" "" "00300332" "" "" "" "1" "" "03534" "" "" "" "" "Afghanistan" "" "0" "" "" "" "" "00306855" "" "" "" "1" "" "00006" "{PMID:Nousiainen 2008:18204449}" "family" "" "" "Finland" "<0d" "0" "" "" "" "Fam1" "00306856" "" "" "" "1" "" "00006" "{PMID:Nousiainen 2008:18204449}" "family" "" "" "Finland" "<0d" "0" "" "" "" "Fam2" "00306857" "" "" "" "1" "" "00006" "{PMID:Nousiainen 2008:18204449}" "family" "" "" "Finland" "<0d" "0" "" "" "" "Fam3" "00306858" "" "" "" "1" "" "00006" "{PMID:Nousiainen 2008:18204449}" "family" "" "" "Finland" "<0d" "0" "" "" "" "Fam4" "00306859" "" "" "" "1" "" "00006" "{PMID:Nousiainen 2008:18204449}" "family" "" "" "Finland" "<0d" "0" "" "" "" "Fam5" "00306860" "" "" "" "1" "" "00006" "{PMID:Nousiainen 2008:18204449}" "family" "" "" "Finland" "<0d" "0" "" "" "" "Fam6" "00306861" "" "" "" "1" "" "00006" "{PMID:Nousiainen 2008:18204449}" "family" "" "" "Finland" "<0d" "0" "" "" "" "Fam7" "00306862" "" "" "" "1" "" "00006" "{PMID:Nousiainen 2008:18204449}" "family" "" "" "Finland" "<0d" "0" "" "" "" "Fam8" "00306863" "" "" "" "1" "" "00006" "{PMID:Nousiainen 2008:18204449}" "family" "" "" "Finland" "<0d" "0" "" "" "" "Fam9" "00306864" "" "" "" "1" "" "00006" "{PMID:Nousiainen 2008:18204449}" "family" "" "" "Finland" "<0d" "0" "" "" "" "Fam10" "00306865" "" "" "" "1" "" "00006" "{PMID:Nousiainen 2008:18204449}" "family" "" "" "Finland" "<0d" "0" "" "" "" "Fam11" "00306866" "" "" "" "1" "" "00006" "{PMID:Nousiainen 2008:18204449}" "family" "" "" "Finland" "<0d" "0" "" "" "" "Fam12" "00306867" "" "" "" "1" "" "00006" "{PMID:Nousiainen 2008:18204449}" "family" "" "" "Finland" "<0d" "0" "" "" "" "Fam13" "00306868" "" "" "" "1" "" "00006" "{PMID:Nousiainen 2008:18204449}" "family" "" "" "Finland" "<0d" "0" "" "" "" "Fam14" "00306869" "" "" "" "1" "" "00006" "{PMID:Nousiainen 2008:18204449}" "family" "" "" "Finland" "<0d" "0" "" "" "" "Fam15" "00306870" "" "" "" "1" "" "00006" "{PMID:Nousiainen 2008:18204449}" "family" "" "" "Finland" "<0d" "0" "" "" "" "Fam16" "00306871" "" "" "" "1" "" "00006" "{PMID:Nousiainen 2008:18204449}" "family" "" "" "Finland" "<0d" "0" "" "" "" "Fam17" "00306872" "" "" "" "1" "" "00006" "{PMID:Nousiainen 2008:18204449}" "family" "" "" "Finland" "<0d" "0" "" "" "" "Fam18" "00306873" "" "" "" "1" "" "00006" "{PMID:Nousiainen 2008:18204449}" "family" "" "" "Finland" "<0d" "0" "" "" "" "Fam19" "00306874" "" "" "" "1" "" "00006" "{PMID:Nousiainen 2008:18204449}" "family" "" "" "Finland" "<0d" "0" "" "" "" "Fam20" "00306875" "" "" "" "1" "" "00006" "{PMID:Nousiainen 2008:18204449}" "family" "" "" "Finland" "<0d" "0" "" "" "" "Fam21" "00306876" "" "" "" "1" "" "00006" "{PMID:Nousiainen 2008:18204449}" "family" "" "" "Finland" "<0d" "0" "" "" "" "Fam22" "00306877" "" "" "" "1" "" "00006" "{PMID:Nousiainen 2008:18204449}" "family" "" "" "Finland" "<0d" "0" "" "" "" "Fam23" "00306878" "" "" "" "1" "" "00006" "{PMID:Nousiainen 2008:18204449}" "family" "" "" "Finland" "<0d" "0" "" "" "" "Fam24" "00306879" "" "" "" "1" "" "00006" "{PMID:Nousiainen 2008:18204449}" "family" "" "" "Finland" "<0d" "0" "" "" "" "Fam25" "00306880" "" "" "" "1" "" "00006" "{PMID:Nousiainen 2008:18204449}" "family" "" "" "Finland" "<0d" "0" "" "" "" "Fam26" "00306881" "" "" "" "1" "" "00006" "{PMID:Nousiainen 2008:18204449}" "family" "" "" "Finland" "<0d" "0" "" "" "" "Fam27" "00306882" "" "" "" "1" "" "00006" "{PMID:Nousiainen 2008:18204449}" "family" "" "" "Finland" "<0d" "0" "" "" "" "Fam28" "00306883" "" "" "" "1" "" "00006" "{PMID:Johannesen 2020:32427350}" "family" "" "" "Finland" "<0d" "0" "" "" "" "Fam29" "00306884" "" "" "" "1" "" "00006" "{PMID:Nousiainen 2008:18204449}" "family" "" "" "Finland" "" "0" "" "" "" "Fam30" "00306885" "" "" "" "1" "" "00006" "{PMID:Nousiainen 2008:18204449}" "family" "" "" "Finland" "" "0" "" "" "" "Fam31" "00306886" "" "" "" "1" "" "00006" "{PMID:Nousiainen 2008:18204449}" "family" "" "" "Finland" "" "0" "" "" "" "Fam32" "00306887" "" "" "" "1" "" "00006" "{PMID:Nousiainen 2008:18204449}" "family" "" "" "Finland" "" "0" "" "" "" "Fam33" "00306888" "" "" "" "1" "" "00006" "{PMID:Nousiainen 2008:18204449}" "family" "" "" "Finland" "" "0" "" "" "" "Fam34" "00306889" "" "" "" "1" "" "00006" "{PMID:Nousiainen 2008:18204449}" "family" "" "" "Finland" "" "0" "" "" "" "Fam35" "00306890" "" "" "" "1" "" "00006" "{PMID:Nousiainen 2008:18204449}" "family" "" "" "Finland" "" "0" "" "" "" "Fam36" "00306891" "" "" "" "1" "" "00006" "{PMID:Nousiainen 2008:18204449}" "family" "" "" "Finland" "" "0" "" "" "" "Fam37" "00306892" "" "" "" "1" "" "00006" "{PMID:Nousiainen 2008:18204449}" "family" "" "" "Finland" "" "0" "" "" "" "Fam38" "00306893" "" "" "" "1" "" "00006" "{PMID:Nousiainen 2008:18204449}" "family" "" "" "Finland" "" "0" "" "" "" "Fam39" "00306894" "" "" "" "1" "" "00006" "{PMID:Said 2017:28884921}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "Malta" "" "0" "" "" "Europe;Malta" "Pat1" "00306895" "" "" "" "1" "" "00006" "{PMID:Said 2017:28884921}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "(Germany)" "04y" "0" "" "" "Europe" "Pat2" "00306896" "" "" "" "2" "" "00006" "{PMID:Paakkola 2018:28657126}" "6-generation family, affected brother/sister, unaffected heterozygous carrier parents" "F;M" "yes" "Finland" "" "0" "" "" "" "Fam" "00306897" "" "" "" "2" "" "00006" "{PMID:Smith 2017:27684565}" "2-generation family, 2 affected brothers, unaffected heterozygous carrier parents" "M" "no" "Canada" "" "0" "" "" "white" "FamPat1/2" "00308035" "" "" "" "1" "" "00006" "{PMID:Mahler 2019:31056085}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "no" "Germany" "" "0" "" "" "" "Pat14" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 53 "{{individualid}}" "{{diseaseid}}" "00016592" "00007" "00038399" "04255" "00038400" "04255" "00038401" "04255" "00095112" "00007" "00294747" "00198" "00300328" "00008" "00300329" "00008" "00300332" "00008" "00306855" "00007" "00306856" "00007" "00306857" "00007" "00306858" "00007" "00306859" "00007" "00306860" "00007" "00306861" "00007" "00306862" "00007" "00306863" "00007" "00306864" "00007" "00306865" "00007" "00306866" "00007" "00306867" "00007" "00306868" "00007" "00306869" "00007" "00306870" "00007" "00306871" "00007" "00306872" "00007" "00306873" "00007" "00306874" "00007" "00306875" "00007" "00306876" "00007" "00306877" "00007" "00306878" "00007" "00306879" "00007" "00306880" "00007" "00306881" "00007" "00306882" "00007" "00306883" "00007" "00306884" "00008" "00306885" "00008" "00306886" "00008" "00306887" "00008" "00306888" "00008" "00306889" "00008" "00306890" "00008" "00306891" "00008" "00306892" "00008" "00306893" "00008" "00306894" "00008" "00306895" "00008" "00306896" "00008" "00306897" "00008" "00308035" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00007, 00008, 00026, 00198, 04255 ## Count = 49 "{{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}}" "0000028916" "00007" "00016592" "00638" "Familial, autosomal recessive" "" "fetal akinesia syndrome (pterygia and joint contractures)" "" "" "" "" "" "" "" "" "" "" "" "0000028926" "04255" "00038399" "00015" "Unknown" "61y" "assumed dominant effect, diagnosed limb onset ALS, 63y-deceased" "" "" "" "" "" "" "" "" "" "amyotrophic lateral sclerosis" "" "0000028927" "04255" "00038400" "00015" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000028928" "04255" "00038401" "00015" "Unknown" "" "Assumed dominant effect" "" "" "" "" "" "" "" "" "" "" "" "0000073507" "00007" "00095112" "01586" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000232683" "00007" "00306855" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LCCS1" "lethal motoneuron syndrome" "" "0000232684" "00007" "00306856" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LCCS1" "lethal motoneuron syndrome" "" "0000232685" "00007" "00306857" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LCCS1" "lethal motoneuron syndrome" "" "0000232686" "00007" "00306858" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LCCS1" "lethal motoneuron syndrome" "" "0000232687" "00007" "00306859" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LCCS1" "lethal motoneuron syndrome" "" "0000232688" "00007" "00306860" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LCCS1" "lethal motoneuron syndrome" "" "0000232689" "00007" "00306861" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LCCS1" "lethal motoneuron syndrome" "" "0000232690" "00007" "00306862" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LCCS1" "lethal motoneuron syndrome" "" "0000232691" "00007" "00306863" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LCCS1" "lethal motoneuron syndrome" "" "0000232692" "00007" "00306864" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LCCS1" "lethal motoneuron syndrome" "" "0000232693" "00007" "00306865" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LCCS1" "lethal motoneuron syndrome" "" "0000232694" "00007" "00306866" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LCCS1" "lethal motoneuron syndrome" "" "0000232695" "00007" "00306867" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LCCS1" "lethal motoneuron syndrome" "" "0000232696" "00007" "00306868" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LCCS1" "lethal motoneuron syndrome" "" "0000232697" "00007" "00306869" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LCCS1" "lethal motoneuron syndrome" "" "0000232698" "00007" "00306870" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LCCS1" "lethal motoneuron syndrome" "" "0000232699" "00007" "00306871" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LCCS1" "lethal motoneuron syndrome" "" "0000232700" "00007" "00306872" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LCCS1" "lethal motoneuron syndrome" "" "0000232701" "00007" "00306873" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LCCS1" "lethal motoneuron syndrome" "" "0000232702" "00007" "00306874" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LCCS1" "lethal motoneuron syndrome" "" "0000232703" "00007" "00306875" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LCCS1" "lethal motoneuron syndrome" "" "0000232704" "00007" "00306876" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LCCS1" "lethal motoneuron syndrome" "" "0000232705" "00007" "00306877" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LCCS1" "lethal motoneuron syndrome" "" "0000232706" "00007" "00306878" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LCCS1" "lethal motoneuron syndrome" "" "0000232707" "00007" "00306879" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LCCS1" "lethal motoneuron syndrome" "" "0000232708" "00007" "00306880" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LCCS1" "lethal motoneuron syndrome" "" "0000232709" "00007" "00306881" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LCCS1" "lethal motoneuron syndrome" "" "0000232710" "00007" "00306882" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LCCS1" "lethal motoneuron syndrome" "" "0000232711" "00007" "00306883" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LCCS1" "lethal motoneuron syndrome" "" "0000232712" "00008" "00306884" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CAAHD" "lethal arthrogryposis with anterior horn cell diseas" "" "0000232713" "00008" "00306885" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CAAHD" "lethal arthrogryposis with anterior horn cell diseas" "" "0000232714" "00008" "00306886" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CAAHD" "lethal arthrogryposis with anterior horn cell diseas" "" "0000232715" "00008" "00306887" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CAAHD" "lethal arthrogryposis with anterior horn cell diseas" "" "0000232716" "00008" "00306888" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CAAHD" "lethal arthrogryposis with anterior horn cell diseas" "" "0000232717" "00008" "00306889" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CAAHD" "lethal arthrogryposis with anterior horn cell diseas" "" "0000232718" "00008" "00306890" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CAAHD" "lethal arthrogryposis with anterior horn cell diseas" "" "0000232719" "00008" "00306891" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CAAHD" "lethal arthrogryposis with anterior horn cell diseas" "" "0000232720" "00008" "00306892" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CAAHD" "lethal arthrogryposis with anterior horn cell diseas" "" "0000232721" "00008" "00306893" "00006" "Familial, autosomal recessive" "" "distinct congenital arthrogryposis, prolonged survival after birth; autopsy revealed typical neurogenic muscle atrophy, loss of anterior horn cells spinal cord" "" "" "" "" "" "" "" "" "CAAHD" "severe infantile spinal muscular atrophy" "" "0000232722" "00008" "00306894" "00006" "Familial, autosomal recessive" "05y01m" "see paper; ..." "" "" "" "" "" "" "" "" "CAAHD" "congenital Arthrogryposis with anterior horn cell disease" "" "0000232723" "00008" "00306895" "00006" "Familial, autosomal recessive" "04y" "see paper; ..., 4y-deceased" "" "" "" "" "" "" "" "" "CAAHD" "congenital arthrogryposis with anterior horn cell disease" "" "0000232724" "00008" "00306896" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "CAAHD" "congenital arthrogryposis with anterior horn cell disease" "" "0000232725" "00008" "00306897" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "CAAHD" "arthrogryposis multiplex congenita" "" "0000233461" "00198" "00308035" "00006" "Familial, autosomal recessive" "" "severe global developmental delay, severe encephalopathy, dystonia" "" "" "" "" "" "" "" "" "" "developmental delay" "" ## Screenings ## Do not remove or alter this header ## ## Count = 53 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000016544" "00016592" "1" "00638" "00638" "2014-05-12 17:50:21" "" "" "SEQ-NG-I" "DNA" "" "" "0000038633" "00038399" "1" "00015" "00015" "2015-05-08 11:57:34" "00006" "2020-07-21 22:58:52" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000038634" "00038400" "1" "00015" "00015" "2015-05-08 14:20:08" "00006" "2020-07-21 22:58:23" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000038635" "00038401" "1" "00015" "00015" "2015-05-08 14:38:47" "" "" "SEQ" "DNA" "" "" "0000095510" "00095112" "1" "01586" "01586" "2017-01-06 12:39:40" "" "" "SEQ;SEQ-NG" "DNA" "Blood" "" "0000295915" "00294747" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000301449" "00300328" "1" "03534" "03534" "2020-05-01 10:58:13" "" "" "SEQ-NG" "DNA" "" "" "0000301450" "00300329" "1" "03534" "03534" "2020-05-01 11:23:09" "" "" "SEQ-NG" "DNA" "" "" "0000301453" "00300332" "1" "03534" "03534" "2020-05-01 11:27:45" "" "" "SEQ-NG" "DNA" "" "" "0000307992" "00306855" "1" "00006" "00006" "2020-07-21 21:17:04" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000307993" "00306856" "1" "00006" "00006" "2020-07-21 21:17:04" "" "" "SEQ" "DNA" "" "" "0000307994" "00306857" "1" "00006" "00006" "2020-07-21 21:17:04" "" "" "SEQ" "DNA" "" "" "0000307995" "00306858" "1" "00006" "00006" "2020-07-21 21:17:04" "" "" "SEQ" "DNA" "" "" "0000307996" "00306859" "1" "00006" "00006" "2020-07-21 21:17:04" "" "" "SEQ" "DNA" "" "" "0000307997" "00306860" "1" "00006" "00006" "2020-07-21 21:17:04" "" "" "SEQ" "DNA" "" "" "0000307998" "00306861" "1" "00006" "00006" "2020-07-21 21:17:04" "" "" "SEQ" "DNA" "" "" "0000307999" "00306862" "1" "00006" "00006" "2020-07-21 21:17:04" "" "" "SEQ" "DNA" "" "" "0000308000" "00306863" "1" "00006" "00006" "2020-07-21 21:17:04" "" "" "SEQ" "DNA" "" "" "0000308001" "00306864" "1" "00006" "00006" "2020-07-21 21:17:04" "" "" "SEQ" "DNA" "" "" "0000308002" "00306865" "1" "00006" "00006" "2020-07-21 21:17:04" "" "" "SEQ" "DNA" "" "" "0000308003" "00306866" "1" "00006" "00006" "2020-07-21 21:17:04" "" "" "SEQ" "DNA" "" "" "0000308004" "00306867" "1" "00006" "00006" "2020-07-21 21:17:04" "" "" "SEQ" "DNA" "" "" "0000308005" "00306868" "1" "00006" "00006" "2020-07-21 21:17:04" "" "" "SEQ" "DNA" "" "" "0000308006" "00306869" "1" "00006" "00006" "2020-07-21 21:17:04" "" "" "SEQ" "DNA" "" "" "0000308007" "00306870" "1" "00006" "00006" "2020-07-21 21:17:04" "" "" "SEQ" "DNA" "" "" "0000308008" "00306871" "1" "00006" "00006" "2020-07-21 21:17:04" "" "" "SEQ" "DNA" "" "" "0000308009" "00306872" "1" "00006" "00006" "2020-07-21 21:17:04" "" "" "SEQ" "DNA" "" "" "0000308010" "00306873" "1" "00006" "00006" "2020-07-21 21:17:04" "" "" "SEQ" "DNA" "" "" "0000308011" "00306874" "1" "00006" "00006" "2020-07-21 21:17:04" "" "" "SEQ" "DNA" "" "" "0000308012" "00306875" "1" "00006" "00006" "2020-07-21 21:17:04" "" "" "SEQ" "DNA" "" "" "0000308013" "00306876" "1" "00006" "00006" "2020-07-21 21:17:04" "" "" "SEQ" "DNA" "" "" "0000308014" "00306877" "1" "00006" "00006" "2020-07-21 21:17:04" "" "" "SEQ" "DNA" "" "" "0000308015" "00306878" "1" "00006" "00006" "2020-07-21 21:17:04" "" "" "SEQ" "DNA" "" "" "0000308016" "00306879" "1" "00006" "00006" "2020-07-21 21:17:04" "" "" "SEQ" "DNA" "" "" "0000308017" "00306880" "1" "00006" "00006" "2020-07-21 21:17:04" "" "" "SEQ" "DNA" "" "" "0000308018" "00306881" "1" "00006" "00006" "2020-07-21 21:17:04" "" "" "SEQ" "DNA" "" "" "0000308019" "00306882" "1" "00006" "00006" "2020-07-21 21:17:04" "" "" "SEQ" "DNA" "" "" "0000308020" "00306883" "1" "00006" "00006" "2020-07-21 21:17:04" "" "" "SEQ" "DNA" "" "" "0000308021" "00306884" "1" "00006" "00006" "2020-07-21 21:49:16" "" "" "SEQ" "DNA" "" "" "0000308022" "00306885" "1" "00006" "00006" "2020-07-21 21:49:16" "" "" "SEQ" "DNA" "" "" "0000308023" "00306886" "1" "00006" "00006" "2020-07-21 21:49:16" "" "" "SEQ" "DNA" "" "" "0000308024" "00306887" "1" "00006" "00006" "2020-07-21 21:49:16" "" "" "SEQ" "DNA" "" "" "0000308025" "00306888" "1" "00006" "00006" "2020-07-21 21:49:16" "" "" "SEQ" "DNA" "" "" "0000308026" "00306889" "1" "00006" "00006" "2020-07-21 21:49:16" "" "" "SEQ" "DNA" "" "" "0000308027" "00306890" "1" "00006" "00006" "2020-07-21 21:49:16" "" "" "SEQ" "DNA" "" "" "0000308028" "00306891" "1" "00006" "00006" "2020-07-21 21:49:16" "" "" "SEQ" "DNA" "" "" "0000308029" "00306892" "1" "00006" "00006" "2020-07-21 21:49:16" "" "" "SEQ" "DNA" "" "" "0000308030" "00306893" "1" "00006" "00006" "2020-07-21 21:49:16" "" "" "SEQ" "DNA" "" "" "0000308031" "00306894" "1" "00006" "00006" "2020-07-21 22:04:39" "00006" "2020-07-21 22:07:08" "SEQ;SEQ-NG" "DNA" "" "WES" "0000308032" "00306895" "1" "00006" "00006" "2020-07-21 22:09:35" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000308033" "00306896" "1" "00006" "00006" "2020-07-21 22:20:32" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000308034" "00306897" "1" "00006" "00006" "2020-07-21 22:31:58" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "" "0000309179" "00308035" "1" "00006" "00006" "2020-08-25 19:47:51" "" "" "SEQ;SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 47 "{{screeningid}}" "{{geneid}}" "0000038633" "GLE1" "0000038634" "GLE1" "0000038635" "GLE1" "0000307992" "GLE1" "0000307993" "GLE1" "0000307994" "GLE1" "0000307995" "GLE1" "0000307996" "GLE1" "0000307997" "GLE1" "0000307998" "GLE1" "0000307999" "GLE1" "0000308000" "GLE1" "0000308001" "GLE1" "0000308002" "GLE1" "0000308003" "GLE1" "0000308004" "GLE1" "0000308005" "GLE1" "0000308006" "GLE1" "0000308007" "GLE1" "0000308008" "GLE1" "0000308009" "GLE1" "0000308010" "GLE1" "0000308011" "GLE1" "0000308012" "GLE1" "0000308013" "GLE1" "0000308014" "GLE1" "0000308015" "GLE1" "0000308016" "GLE1" "0000308017" "GLE1" "0000308018" "GLE1" "0000308019" "GLE1" "0000308020" "GLE1" "0000308021" "GLE1" "0000308022" "GLE1" "0000308023" "GLE1" "0000308024" "GLE1" "0000308025" "GLE1" "0000308026" "GLE1" "0000308027" "GLE1" "0000308028" "GLE1" "0000308029" "GLE1" "0000308030" "GLE1" "0000308031" "GLE1" "0000308032" "GLE1" "0000308033" "GLE1" "0000308034" "GLE1" "0000309179" "GLE1" ## 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 = 87 "{{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}}" "0000001420" "0" "99" "9" "131284937" "131284937" "subst" "0.00100822" "00015" "GLE1_000001" "g.131284937A>G" "1/200 chromosomes (Finland)" "" "" "432-10A>G" "Finnish Major variant: 52 Finnish LCCS1 patients (51 hom and 1 com-het) and 12 Finnish LAAHD patients (com-het)." "SUMMARY record" "yes" "" "0" "" "" "g.128522658A>G" "" "pathogenic (recessive)" "" "0000001421" "0" "99" "9" "131298693" "131298693" "subst" "0.000276124" "00015" "GLE1_000002" "g.131298693G>A" "" "" "" "" "1 Finnish LCCS1 patient (com-het)" "SUMMARY record" "yes" "rs121434407" "0" "" "" "g.128536414G>A" "" "pathogenic (recessive)" "" "0000001422" "0" "99" "9" "131300337" "131300337" "subst" "1.62524E-5" "00015" "GLE1_000003" "g.131300337G>A" "" "" "" "" "6 Finnish LAAHD patients (com-het)" "SUMMARY record" "yes" "rs121434408" "0" "" "" "g.128538058G>A" "" "pathogenic (recessive)" "" "0000001423" "0" "99" "9" "131303403" "131303403" "subst" "4.46744E-5" "00015" "GLE1_000004" "g.131303403T>C" "" "" "" "" "6 Finnish LAAHD patients (com-het)" "SUMMARY record" "yes" "rs121434409" "0" "" "" "g.128541124T>C" "" "pathogenic (recessive)" "" "0000036393" "11" "99" "9" "131298693" "131298693" "subst" "0.000276124" "00638" "GLE1_000002" "g.131298693G>A" "" "{PMID:Ellard 2015:24961629}, {DOI:Ellard 2015:10.1038/ejhg.2014.120}" "" "" "" "Germline" "yes" "rs121434407" "0" "" "" "g.128536414G>A" "" "pathogenic (recessive)" "" "0000036394" "21" "99" "9" "131300337" "131300337" "subst" "1.62524E-5" "00638" "GLE1_000003" "g.131300337G>A" "" "{PMID:Ellard 2015:24961629}, {DOI:Ellard 2015:10.1038/ejhg.2014.120}" "" "" "" "Germline" "yes" "rs121434408" "0" "" "" "g.128538058G>A" "" "pathogenic (recessive)" "" "0000066295" "0" "99" "9" "131271264" "131271264" "subst" "0" "00015" "GLE1_000005" "g.131271264C>A" "0/960 controls" "{PMID:Kaneb 2015:25343993}" "" "" "very low RNA level; one patient with ALS (het)" "Germline" "yes" "" "0" "" "" "g.128508985C>A" "" "pathogenic" "" "0000066296" "1" "99" "9" "131302552" "131302552" "subst" "0" "00015" "GLE1_000006" "g.131302552A>C" "0/960 controls" "{PMID:Kaneb 2015:25343993}" "" "" "two siblings with ALS (het)" "Germline" "yes" "" "0" "" "" "g.128540273A>C" "" "pathogenic" "" "0000066297" "0" "77" "9" "131303441" "131303441" "subst" "2.84391E-5" "00015" "GLE1_000007" "g.131303441C>T" "0/960 controls" "{PMID:Kaneb 2015:25343993}" "" "" "one patient with ALS (het)" "Germline" "yes" "" "0" "" "" "g.128541162C>T" "" "likely pathogenic" "" "0000154075" "21" "70" "9" "131285095" "131285095" "subst" "4.06095E-6" "01586" "GLE1_000008" "g.131285095G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.128522816G>A" "" "likely pathogenic" "" "0000154076" "11" "70" "9" "131302598" "131302598" "subst" "2.84347E-5" "01586" "GLE1_000009" "g.131302598G>T" "" "" "" "" "" "Germline" "yes" "rs201163437" "0" "" "" "g.128540319G>T" "" "likely pathogenic" "" "0000246787" "0" "10" "9" "131285955" "131285955" "subst" "0.265953" "02330" "GLE1_000011" "g.131285955A>G" "" "" "" "GLE1(NM_001003722.1):c.727A>G (p.I243V), GLE1(NM_001003722.2):c.727A>G (p.I243V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128523676A>G" "" "benign" "" "0000248178" "0" "10" "9" "131285955" "131285955" "subst" "0.265953" "02325" "GLE1_000011" "g.131285955A>G" "" "" "" "GLE1(NM_001003722.1):c.727A>G (p.I243V), GLE1(NM_001003722.2):c.727A>G (p.I243V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128523676A>G" "" "benign" "" "0000250881" "0" "10" "9" "131285955" "131285955" "subst" "0.265953" "02326" "GLE1_000011" "g.131285955A>G" "" "" "" "GLE1(NM_001003722.1):c.727A>G (p.I243V), GLE1(NM_001003722.2):c.727A>G (p.I243V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128523676A>G" "" "benign" "" "0000284701" "0" "10" "9" "131287573" "131287573" "subst" "0.0138449" "02326" "GLE1_000012" "g.131287573G>A" "" "" "" "GLE1(NM_001003722.1):c.1000G>A (p.E334K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128525294G>A" "" "benign" "" "0000284702" "0" "50" "9" "131284999" "131284999" "subst" "4.06081E-6" "02326" "GLE1_000010" "g.131284999C>T" "" "" "" "GLE1(NM_001003722.1):c.485C>T (p.S162L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128522720C>T" "" "VUS" "" "0000288412" "0" "50" "9" "131295881" "131295881" "subst" "2.03064E-5" "01943" "GLE1_000013" "g.131295881C>T" "" "" "" "GLE1(NM_001003722.1):c.1402C>T (p.L468F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128533602C>T" "" "VUS" "" "0000288413" "0" "50" "9" "131302584" "131302584" "subst" "0" "01943" "GLE1_000014" "g.131302584G>T" "" "" "" "GLE1(NM_001003722.1):c.1995G>T (p.M665I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128540305G>T" "" "VUS" "" "0000536397" "0" "30" "9" "131286037" "131286037" "subst" "0" "01804" "GLE1_000016" "g.131286037C>T" "" "" "" "GLE1(NM_001003722.1):c.809C>T (p.(Ala270Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128523758C>T" "" "likely benign" "" "0000536399" "0" "50" "9" "131296106" "131296106" "subst" "1.21825E-5" "02327" "GLE1_000017" "g.131296106G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128533827G>A" "" "VUS" "" "0000652604" "1" "50" "9" "131286051" "131286051" "subst" "0.00021571" "03575" "GLE1_000018" "g.131286051G>A" "2/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 2 heterozygous, no homozygous; {DB:CLININrs146800850}" "Germline" "" "rs146800850" "0" "" "" "g.128523772G>A" "" "VUS" "" "0000664389" "0" "70" "9" "131302595" "131302595" "subst" "8.12367E-6" "03534" "GLE1_000019" "g.131302595T>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.128540316T>A" "" "likely pathogenic (recessive)" "ACMG" "0000664390" "0" "90" "9" "131298693" "131298693" "subst" "0.000276124" "03534" "GLE1_000002" "g.131298693G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.128536414G>A" "" "likely pathogenic (recessive)" "ACMG" "0000664392" "0" "90" "9" "131298693" "131298693" "subst" "0.000276124" "03534" "GLE1_000002" "g.131298693G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.128536414G>A" "" "likely pathogenic (recessive)" "ACMG" "0000664393" "0" "70" "9" "131284932" "131284932" "subst" "0" "03534" "GLE1_000020" "g.131284932A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.128522653A>G" "" "likely pathogenic (recessive)" "ACMG" "0000664394" "3" "70" "9" "131300278" "131300278" "subst" "8.12651E-6" "03534" "GLE1_000021" "g.131300278G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.128537999G>A" "" "likely pathogenic (recessive)" "ACMG" "0000674812" "3" "90" "9" "131284937" "131284937" "subst" "0.00100822" "00006" "GLE1_000001" "g.131284937A>G" "1/200 control chromosomes (Finland)" "{PMID:Nousiainen 2008:18204449}" "" "432-10A>G" "" "Germline" "" "rs386833693" "0" "" "" "g.128522658A>G" "" "pathogenic (recessive)" "" "0000674813" "3" "90" "9" "131284937" "131284937" "subst" "0.00100822" "00006" "GLE1_000001" "g.131284937A>G" "" "{PMID:Nousiainen 2008:18204449}" "" "432-10A>G" "" "Germline" "" "" "0" "" "" "g.128522658A>G" "" "pathogenic (recessive)" "" "0000674814" "3" "90" "9" "131284937" "131284937" "subst" "0.00100822" "00006" "GLE1_000001" "g.131284937A>G" "" "{PMID:Nousiainen 2008:18204449}" "" "432-10A>G" "" "Germline" "" "" "0" "" "" "g.128522658A>G" "" "pathogenic (recessive)" "" "0000674815" "3" "90" "9" "131284937" "131284937" "subst" "0.00100822" "00006" "GLE1_000001" "g.131284937A>G" "" "{PMID:Nousiainen 2008:18204449}" "" "432-10A>G" "" "Germline" "" "" "0" "" "" "g.128522658A>G" "" "pathogenic (recessive)" "" "0000674816" "3" "90" "9" "131284937" "131284937" "subst" "0.00100822" "00006" "GLE1_000001" "g.131284937A>G" "" "{PMID:Nousiainen 2008:18204449}" "" "432-10A>G" "" "Germline" "" "" "0" "" "" "g.128522658A>G" "" "pathogenic (recessive)" "" "0000674817" "3" "90" "9" "131284937" "131284937" "subst" "0.00100822" "00006" "GLE1_000001" "g.131284937A>G" "" "{PMID:Nousiainen 2008:18204449}" "" "432-10A>G" "" "Germline" "" "" "0" "" "" "g.128522658A>G" "" "pathogenic (recessive)" "" "0000674818" "3" "90" "9" "131284937" "131284937" "subst" "0.00100822" "00006" "GLE1_000001" "g.131284937A>G" "" "{PMID:Nousiainen 2008:18204449}" "" "432-10A>G" "" "Germline" "" "" "0" "" "" "g.128522658A>G" "" "pathogenic (recessive)" "" "0000674819" "3" "90" "9" "131284937" "131284937" "subst" "0.00100822" "00006" "GLE1_000001" "g.131284937A>G" "" "{PMID:Nousiainen 2008:18204449}" "" "432-10A>G" "" "Germline" "" "" "0" "" "" "g.128522658A>G" "" "pathogenic (recessive)" "" "0000674820" "3" "90" "9" "131284937" "131284937" "subst" "0.00100822" "00006" "GLE1_000001" "g.131284937A>G" "" "{PMID:Nousiainen 2008:18204449}" "" "432-10A>G" "" "Germline" "" "" "0" "" "" "g.128522658A>G" "" "pathogenic (recessive)" "" "0000674821" "3" "90" "9" "131284937" "131284937" "subst" "0.00100822" "00006" "GLE1_000001" "g.131284937A>G" "" "{PMID:Nousiainen 2008:18204449}" "" "432-10A>G" "" "Germline" "" "" "0" "" "" 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"g.131303403T>C" "" "{PMID:Nousiainen 2008:18204449}" "" "" "" "Germline" "" "" "0" "" "" "g.128541124T>C" "" "pathogenic (recessive)" "" "0000674860" "2" "90" "9" "131303403" "131303403" "subst" "4.46744E-5" "00006" "GLE1_000004" "g.131303403T>C" "" "{PMID:Nousiainen 2008:18204449}" "" "" "" "Germline" "" "" "0" "" "" "g.128541124T>C" "" "pathogenic (recessive)" "" "0000674861" "2" "90" "9" "131303403" "131303403" "subst" "4.46744E-5" "00006" "GLE1_000004" "g.131303403T>C" "" "{PMID:Nousiainen 2008:18204449}" "" "" "" "Germline" "" "" "0" "" "" "g.128541124T>C" "" "pathogenic (recessive)" "" "0000674862" "3" "90" "9" "131303430" "131303430" "subst" "0" "00006" "GLE1_000022" "g.131303430C>T" "" "{PMID:Said 2017:28884921}" "" "" "" "Germline" "" "" "0" "" "" "g.128541151C>T" "" "pathogenic (recessive)" "" "0000674863" "1" "90" "9" "131298693" "131298693" "subst" "0.000276124" "00006" "GLE1_000002" "g.131298693G>A" "" "{PMID:Said 2017:28884921}" "" "" "" "Germline" "" "" "0" "" "" "g.128536414G>A" "" "pathogenic (recessive)" "" "0000674864" "2" "90" "9" "131298737" "131298737" "subst" "3.65488E-5" "00006" "GLE1_000023" "g.131298737C>T" "" "{PMID:Said 2017:28884921}" "" "" "" "Germline" "" "" "0" "" "" "g.128536458C>T" "" "pathogenic (recessive)" "" "0000674865" "3" "90" "9" "131303403" "131303403" "subst" "4.46744E-5" "00006" "GLE1_000004" "g.131303403T>C" "2/615 control individuals" "{PMID:Paakkola 2018:28657126}" "" "2015T>C (I684T)" "" "Germline" "yes" "" "0" "" "" "g.128541124T>C" "" "pathogenic (recessive)" "" "0000674866" "1" "90" "9" "131271148" "131271152" "del" "0" "00006" "GLE1_000024" "g.131271148_131271152del" "" "{PMID:Smith 2017:27684565}" "" "" "" "Germline" "yes" "" "0" "" "" "g.128508869_128508873del" "" "pathogenic (recessive)" "" "0000674867" "2" "90" "9" "131301893" "131301893" "subst" "8.12321E-6" "00006" "GLE1_000025" "g.131301893A>G" "" "{PMID:Smith 2017:27684565}" "" "" "" "Germline" "yes" "" "0" "" "" "g.128539614A>G" "" "pathogenic (recessive)" "" "0000683679" "1" "90" "9" "131298693" "131298693" "subst" "0.000276124" "00006" "GLE1_000002" "g.131298693G>A" "" "{PMID:Mahler 2019:31056085}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000683688" "2" "90" "9" "131298737" "131298737" "subst" "3.65488E-5" "00006" "GLE1_000023" "g.131298737C>T" "" "{PMID:Mahler 2019:31056085}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000803893" "0" "50" "9" "131285028" "131285028" "subst" "1.21819E-5" "02329" "GLE1_000026" "g.131285028T>A" "" "" "" "GLE1(NM_001003722.1):c.514T>A (p.F172I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978418" "0" "30" "9" "131262512" "131262512" "subst" "0.00596249" "01804" "GLE1_000029" "g.131262512G>A" "" "" "" "ODF2(NM_001351578.2):c.2717G>A (p.(Arg906His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037198" "0" "70" "9" "131302598" "131302598" "subst" "2.84347E-5" "01804" "GLE1_000009" "g.131302598G>T" "" "" "" "GLE1(NM_001003722.2):c.2009G>T (p.(Arg670Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" ## 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 GLE1 ## Count = 87 "{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/Exon}}" "{{VariantOnTranscript/GVS/Function}}" "0000001420" "00000247" "99" "433" "-10" "433" "-10" "c.433-10A>G" "r.432_433ins433-9_433-1" "p.Thr144_Glu145insProPheGln" "3i" "" "0000001421" "00000247" "99" "1706" "0" "1706" "0" "c.1706G>A" "r.1706g>a" "p.Arg569His" "12" "" "0000001422" "00000247" "99" "1849" "0" "1849" "0" "c.1849G>A" "r.1849g>a" "p.Val617Met" "13" "" "0000001423" "00000247" "99" "2051" "0" "2051" "0" "c.2051T>C" "r.2051u>c" "p.Ile684Thr" "16" "" "0000036393" "00000247" "99" "1706" "0" "1706" "0" "c.1706G>A" "r.(?)" "p.(Arg569His)" "12" "coding" "0000036394" "00000247" "99" "1849" "0" "1849" "0" "c.1849G>A" "r.(?)" "p.(Val617Met)" "13" "coding" "0000066295" "00000247" "99" "209" "0" "209" "0" "c.209C>A" "r.209c>a" "p.Ser70*" "1" "" "0000066296" "00000247" "99" "1965" "-2" "1965" "-2" "c.1965-2A>C" "r.1965_1972del" "p.Arg655Serfs*89" "14i" "" "0000066297" "00000247" "77" "2089" "0" "2089" "0" "c.2089C>T" "r.(?)" "p.(Arg697Cys)" "16" "" "0000154075" "00000247" "70" "581" "0" "581" "0" "c.581G>A" "r.(?)" "p.(Ser194Asn)" "4" "missense" "0000154076" "00000247" "70" "2009" "0" "2009" "0" "c.2009G>T" "r.(?)" "p.(Arg670Leu)" "15" "missense" "0000246787" "00000247" "10" "727" "0" "727" "0" "c.727A>G" "r.(?)" "p.(Ile243Val)" "" "" "0000248178" "00000247" "10" "727" "0" "727" "0" "c.727A>G" "r.(?)" "p.(Ile243Val)" "" "" "0000250881" "00000247" "10" "727" "0" "727" "0" "c.727A>G" "r.(?)" "p.(Ile243Val)" "" "" "0000284701" "00000247" "10" "1000" "0" "1000" "0" "c.1000G>A" "r.(?)" "p.(Glu334Lys)" "" "" "0000284702" "00000247" "50" "485" "0" "485" "0" "c.485C>T" "r.(?)" "p.(Ser162Leu)" "" "" "0000288412" "00000247" "50" "1402" "0" "1402" "0" "c.1402C>T" "r.(?)" "p.(Leu468Phe)" "" "" "0000288413" "00000247" "50" "1995" "0" "1995" "0" "c.1995G>T" "r.(?)" "p.(Met665Ile)" "" "" "0000536397" "00000247" "30" "809" "0" "809" "0" "c.809C>T" "r.(?)" "p.(Ala270Val)" "" "" "0000536399" "00000247" "50" "1522" "0" "1522" "0" "c.1522G>A" "r.(?)" "p.(Gly508Arg)" "" "" "0000652604" "00000247" "50" "823" "0" "823" "0" "c.823G>A" "r.(?)" "p.(Asp275Asn)" "" "" "0000664389" "00000247" "70" "2006" "0" "2006" "0" "c.2006T>A" "r.(?)" "p.(Ile669Lys)" "" "" "0000664390" "00000247" "90" "1706" "0" "1706" "0" "c.1706G>A" "r.(?)" "p.(Arg569His)" "" "" "0000664392" "00000247" "90" "1706" "0" "1706" "0" "c.1706G>A" "r.(?)" "p.(Arg569His)" "" "" "0000664393" "00000247" "70" "433" "-15" "433" "-15" "c.433-15A>G" "r.spl?" "p.(=)" "" "" "0000664394" "00000247" "70" "1790" "0" "1790" "0" "c.1790G>A" "r.(?)" "p.(Gly597Asp)" "" "" "0000674812" "00000247" "90" "433" "-10" "433" "-10" "c.433-10A>G" "r.432_433ins433-9_433-1" "p.Thr144_Glu145insProPheGln" "3i" "" "0000674813" "00000247" "90" "433" "-10" "433" "-10" "c.433-10A>G" "r.(432_433ins433-9_433-1)" "p.(Thr144_Glu145insProPheGln)" "3i" "" "0000674814" "00000247" "90" "433" "-10" "433" "-10" "c.433-10A>G" "r.(432_433ins433-9_433-1)" "p.(Thr144_Glu145insProPheGln)" "3i" "" "0000674815" "00000247" "90" "433" "-10" "433" "-10" "c.433-10A>G" "r.(432_433ins433-9_433-1)" "p.(Thr144_Glu145insProPheGln)" "3i" "" "0000674816" "00000247" "90" "433" "-10" "433" "-10" "c.433-10A>G" "r.(432_433ins433-9_433-1)" "p.(Thr144_Glu145insProPheGln)" "3i" "" "0000674817" "00000247" "90" "433" "-10" "433" "-10" "c.433-10A>G" "r.(432_433ins433-9_433-1)" "p.(Thr144_Glu145insProPheGln)" "3i" "" "0000674818" "00000247" "90" "433" "-10" "433" "-10" "c.433-10A>G" "r.(432_433ins433-9_433-1)" "p.(Thr144_Glu145insProPheGln)" "3i" "" "0000674819" "00000247" "90" "433" "-10" "433" "-10" "c.433-10A>G" "r.(432_433ins433-9_433-1)" "p.(Thr144_Glu145insProPheGln)" "3i" "" "0000674820" "00000247" "90" "433" "-10" "433" "-10" "c.433-10A>G" "r.(432_433ins433-9_433-1)" "p.(Thr144_Glu145insProPheGln)" "3i" "" "0000674821" "00000247" "90" "433" "-10" "433" "-10" "c.433-10A>G" "r.(432_433ins433-9_433-1)" "p.(Thr144_Glu145insProPheGln)" "3i" "" "0000674822" "00000247" "90" "433" "-10" "433" "-10" "c.433-10A>G" "r.(432_433ins433-9_433-1)" "p.(Thr144_Glu145insProPheGln)" "3i" "" "0000674823" "00000247" "90" "433" "-10" "433" "-10" "c.433-10A>G" "r.(432_433ins433-9_433-1)" "p.(Thr144_Glu145insProPheGln)" "3i" "" "0000674824" "00000247" "90" "433" "-10" "433" "-10" "c.433-10A>G" "r.(432_433ins433-9_433-1)" "p.(Thr144_Glu145insProPheGln)" "3i" "" "0000674825" "00000247" "90" "433" "-10" "433" "-10" "c.433-10A>G" "r.(432_433ins433-9_433-1)" "p.(Thr144_Glu145insProPheGln)" "3i" "" "0000674826" "00000247" "90" "433" "-10" "433" "-10" "c.433-10A>G" "r.(432_433ins433-9_433-1)" "p.(Thr144_Glu145insProPheGln)" "3i" "" "0000674827" "00000247" "90" "433" "-10" "433" "-10" "c.433-10A>G" "r.(432_433ins433-9_433-1)" "p.(Thr144_Glu145insProPheGln)" "3i" "" "0000674828" "00000247" "90" "433" "-10" "433" "-10" "c.433-10A>G" "r.(432_433ins433-9_433-1)" "p.(Thr144_Glu145insProPheGln)" "3i" "" "0000674829" "00000247" "90" "433" "-10" "433" "-10" "c.433-10A>G" "r.(432_433ins433-9_433-1)" "p.(Thr144_Glu145insProPheGln)" "3i" "" "0000674830" "00000247" "90" "433" "-10" "433" "-10" "c.433-10A>G" "r.(432_433ins433-9_433-1)" "p.(Thr144_Glu145insProPheGln)" "3i" "" "0000674831" "00000247" "90" "433" "-10" "433" "-10" "c.433-10A>G" "r.(432_433ins433-9_433-1)" "p.(Thr144_Glu145insProPheGln)" "3i" "" "0000674832" "00000247" "90" "433" "-10" "433" "-10" "c.433-10A>G" "r.(432_433ins433-9_433-1)" "p.(Thr144_Glu145insProPheGln)" "3i" "" "0000674833" "00000247" "90" "433" "-10" "433" "-10" "c.433-10A>G" "r.(432_433ins433-9_433-1)" "p.(Thr144_Glu145insProPheGln)" "3i" "" "0000674834" "00000247" "90" "433" "-10" "433" "-10" "c.433-10A>G" "r.(432_433ins433-9_433-1)" "p.(Thr144_Glu145insProPheGln)" "3i" "" "0000674835" "00000247" "90" "433" "-10" "433" "-10" "c.433-10A>G" "r.(432_433ins433-9_433-1)" "p.(Thr144_Glu145insProPheGln)" "3i" "" "0000674836" "00000247" "90" "433" "-10" "433" "-10" "c.433-10A>G" "r.(432_433ins433-9_433-1)" "p.(Thr144_Glu145insProPheGln)" "3i" "" "0000674837" "00000247" "90" "433" "-10" "433" "-10" "c.433-10A>G" "r.(432_433ins433-9_433-1)" "p.(Thr144_Glu145insProPheGln)" "3i" "" "0000674838" "00000247" "90" "433" "-10" "433" "-10" "c.433-10A>G" "r.(432_433ins433-9_433-1)" "p.(Thr144_Glu145insProPheGln)" "3i" "" "0000674839" "00000247" "90" "433" "-10" "433" "-10" "c.433-10A>G" "r.(432_433ins433-9_433-1)" "p.(Thr144_Glu145insProPheGln)" "3i" "" "0000674840" "00000247" "90" "433" "-10" "433" "-10" "c.433-10A>G" "r.(432_433ins433-9_433-1)" "p.(Thr144_Glu145insProPheGln)" "3i" "" "0000674841" "00000247" "90" "1706" "0" "1706" "0" "c.1706G>A" "r.(?)" "p.(Arg569His)" "12" "" "0000674842" "00000247" "90" "433" "-10" "433" "-10" "c.433-10A>G" "r.(432_433ins433-9_433-1)" "p.(Thr144_Glu145insProPheGln)" "3i" "" "0000674843" "00000247" "90" "433" "-10" "433" "-10" "c.433-10A>G" "r.(432_433ins433-9_433-1)" "p.(Thr144_Glu145insProPheGln)" "3i" "" "0000674844" "00000247" "90" "433" "-10" "433" "-10" "c.433-10A>G" "r.(432_433ins433-9_433-1)" "p.(Thr144_Glu145insProPheGln)" "3i" "" "0000674845" "00000247" "90" "433" "-10" "433" "-10" "c.433-10A>G" "r.(432_433ins433-9_433-1)" "p.(Thr144_Glu145insProPheGln)" "3i" "" "0000674846" "00000247" "90" "433" "-10" "433" "-10" "c.433-10A>G" "r.(432_433ins433-9_433-1)" "p.(Thr144_Glu145insProPheGln)" "3i" "" "0000674847" "00000247" "90" "433" "-10" "433" "-10" "c.433-10A>G" "r.(432_433ins433-9_433-1)" "p.(Thr144_Glu145insProPheGln)" "3i" "" "0000674848" "00000247" "90" "433" "-10" "433" "-10" "c.433-10A>G" "r.(432_433ins433-9_433-1)" "p.(Thr144_Glu145insProPheGln)" "3i" "" "0000674849" "00000247" "90" "433" "-10" "433" "-10" "c.433-10A>G" "r.(432_433ins433-9_433-1)" "p.(Thr144_Glu145insProPheGln)" "3i" "" "0000674850" "00000247" "90" "433" "-10" "433" "-10" "c.433-10A>G" "r.(432_433ins433-9_433-1)" "p.(Thr144_Glu145insProPheGln)" "3i" "" "0000674851" "00000247" "90" "433" "-10" "433" "-10" "c.433-10A>G" "r.(432_433ins433-9_433-1)" "p.(Thr144_Glu145insProPheGln)" "3i" "" "0000674852" "00000247" "90" "1849" "0" "1849" "0" "c.1849G>A" "r.(?)" "p.(Val617Met)" "13" "" "0000674853" "00000247" "90" "1849" "0" "1849" "0" "c.1849G>A" "r.(?)" "p.(Val617Met)" "13" "" "0000674854" "00000247" "90" "1849" "0" "1849" "0" "c.1849G>A" "r.(?)" "p.(Val617Met)" "13" "" "0000674855" "00000247" "90" "1849" "0" "1849" "0" "c.1849G>A" "r.(?)" "p.(Val617Met)" "13" "" "0000674856" "00000247" "90" "1849" "0" "1849" "0" "c.1849G>A" "r.(?)" "p.(Val617Met)" "13" "" "0000674857" "00000247" "90" "2051" "0" "2051" "0" "c.2051T>C" "r.(?)" "p.(Ile684Thr)" "16" "" "0000674858" "00000247" "90" "2051" "0" "2051" "0" "c.2051T>C" "r.(?)" "p.(Ile684Thr)" "16" "" "0000674859" "00000247" "90" "2051" "0" "2051" "0" "c.2051T>C" "r.(?)" "p.(Ile684Thr)" "16" "" "0000674860" "00000247" "90" "2051" "0" "2051" "0" "c.2051T>C" "r.(?)" "p.(Ile684Thr)" "16" "" "0000674861" "00000247" "90" "2051" "0" "2051" "0" "c.2051T>C" "r.(?)" "p.(Ile684Thr)" "16" "" "0000674862" "00000247" "90" "2078" "0" "2078" "0" "c.2078C>T" "r.(?)" "p.(Ser693Phe)" "" "" "0000674863" "00000247" "90" "1706" "0" "1706" "0" "c.1706G>A" "r.(?)" "p.(Arg569His)" "" "" "0000674864" "00000247" "90" "1750" "0" "1750" "0" "c.1750C>T" "r.(?)" "p.(Arg584Trp)" "" "" "0000674865" "00000247" "90" "2051" "0" "2051" "0" "c.2051T>C" "r.(?)" "p.(Ile684Thr)" "" "" "0000674866" "00000247" "90" "100" "-7" "100" "-3" "c.100-7_100-3del" "r.100_321del" "p.Asp34_Lys107del" "1i" "" "0000674867" "00000247" "90" "1882" "-2" "1882" "-2" "c.1882-2A>G" "r.1882_1964del" "p.Val238_Asnfs*2" "13i" "" "0000683679" "00000247" "90" "1706" "0" "1706" "0" "c.1706G>A" "r.(?)" "p.(Arg569His)" "" "" "0000683688" "00000247" "90" "1750" "0" "1750" "0" "c.1750C>T" "r.(?)" "p.(Arg584Trp)" "" "" "0000803893" "00000247" "50" "514" "0" "514" "0" "c.514T>A" "r.(?)" "p.(Phe172Ile)" "" "" "0000978418" "00000247" "30" "-4573" "0" "-4573" "0" "c.-4573G>A" "r.(?)" "p.(=)" "" "" "0001037198" "00000247" "70" "2009" "0" "2009" "0" "c.2009G>T" "r.(?)" "p.(Arg670Leu)" "" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 71 "{{screeningid}}" "{{variantid}}" "0000016544" "0000036393" "0000016544" "0000036394" "0000038633" "0000066295" "0000038634" "0000066296" "0000038635" "0000066297" "0000095510" "0000154075" "0000095510" "0000154076" "0000295915" "0000652604" "0000301449" "0000664389" "0000301449" "0000664390" "0000301450" "0000664392" "0000301450" "0000664393" "0000301453" "0000664394" "0000307992" "0000674812" "0000307993" "0000674813" "0000307994" "0000674814" "0000307995" "0000674815" "0000307996" "0000674816" "0000307997" "0000674817" "0000307998" "0000674818" "0000307999" "0000674819" "0000308000" "0000674820" "0000308001" "0000674821" "0000308002" "0000674822" "0000308003" "0000674823" "0000308004" "0000674824" "0000308005" "0000674825" "0000308006" "0000674826" "0000308007" "0000674827" "0000308008" "0000674828" "0000308009" "0000674829" "0000308010" "0000674830" "0000308011" "0000674831" "0000308012" "0000674832" "0000308013" "0000674833" "0000308014" "0000674834" "0000308015" "0000674835" "0000308016" "0000674836" "0000308017" "0000674837" "0000308018" "0000674838" "0000308019" "0000674839" "0000308020" "0000674840" "0000308020" "0000674841" "0000308021" "0000674842" "0000308021" "0000674852" "0000308022" "0000674843" "0000308022" "0000674853" "0000308023" "0000674844" "0000308023" "0000674854" "0000308024" "0000674845" "0000308024" "0000674855" "0000308025" "0000674846" "0000308025" "0000674856" "0000308026" "0000674847" "0000308026" "0000674857" "0000308027" "0000674848" "0000308027" "0000674858" "0000308028" "0000674849" "0000308028" "0000674859" "0000308029" "0000674850" "0000308029" "0000674860" "0000308030" "0000674851" "0000308030" "0000674861" "0000308031" "0000674862" "0000308032" "0000674863" "0000308032" "0000674864" "0000308033" "0000674865" "0000308034" "0000674866" "0000308034" "0000674867" "0000309179" "0000683679" "0000309179" "0000683688"