### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MAN2B1) # 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}}" "MAN2B1" "mannosidase, alpha, class 2B, member 1" "19" "cen-q13.1" "unknown" "NG_008318.1" "UD_131530690274" "" "https://www.LOVD.nl/MAN2B1" "" "1" "6826" "4125" "609458" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2018-11-16 12:39:04" "00006" "2025-11-13 13:04:16" ## 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}}" "00011720" "MAN2B1" "transcript variant 1" "002" "NM_000528.3" "" "NP_000519.2" "" "" "" "-76" "3148" "3036" "12777591" "12757322" "" "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" "" "" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01907" "MANSA" "mannosidosis, alpha B, lysosomal" "AR" "248500" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "MAN2B1" "00139" "MAN2B1" "01907" ## Individuals ## Do not remove or alter this header ## ## Count = 61 "{{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}}" "00206818" "" "" "" "1" "" "01807" "" "" "F" "" "" "" "0" "" "" "" "" "00239987" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00239988" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00239989" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00239990" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00239991" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00239992" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00239993" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00239994" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00239995" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00239996" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00239997" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00239998" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00239999" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00240000" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00240001" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00240002" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00240003" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00240004" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00240005" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00240006" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00240007" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00240008" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00240009" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00240010" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00240011" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00240012" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00240013" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00240014" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00240015" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00240016" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00240017" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00240018" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00240019" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00240020" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00240021" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00240022" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00240023" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00240024" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00240025" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00240026" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00240027" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00240028" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00240029" "" "" "" "1" "" "00000" "" "father of 09158146-Pats" "M" "yes" "Palestine" "" "0" "" "" "" "" "00240030" "" "" "" "1" "" "00000" "{PMID:Bach 1974:724292}" "brother of 09158146-Pat2" "M" "yes" "Palestine" "" "0" "" "" "" "" "00240031" "" "" "" "1" "" "00000" "{PMID:Bach 1974:724292}" "brother of 09158146-Pat1" "M" "yes" "Palestine" "" "0" "" "" "" "" "00240032" "" "" "" "19" "" "00000" "" "" "" "" "Palestine" "" "0" "" "" "" "" "00292038" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292039" "" "" "" "28" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292040" "" "" "" "30" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00309220" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" "" "00317993" "" "" "" "1" "" "00006" "{PMID:Riazuddin 2017:27457812}" "" "" "yes" "Pakistan" "" "0" "" "" "" "PKMR87" "00334000" "" "" "" "3" "" "00000" "{PMID:Stone 2017:28559085}" "family, 3 affected" "F" "" "(United States)" "" "0" "" "" "" "496" "00361589" "" "" "" "1" "" "00006" "{PMID:Anazi 2017:27431290}" "familial" "F" "yes" "Saudi Arabia" "" "0" "" "" "" "14DG1447" "00387765" "" "" "" "3" "" "00006" "{PMID:Hu 2019:29302074}" "family, 3 affected individuals, first cousin parents" "" "yes" "" "" "0" "" "" "Baloch" "M8500032" "00389437" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 270, cone-rod dystrophy, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "721" "00440448" "" "" "" "1" "" "00006" "{PMID:Nambot 2018:29095811}" "" "" "" "France" "" "0" "" "" "" "PED2238.1" "00456270" "" "" "" "1" "" "00006" "{PMID:Fernandez-Marmiesse 2014:24767253}" "" "M" "" "Spain" "" "0" "" "" "" "Pat48" "00469074" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" "" "00469075" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" "" "00469076" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 61 "{{individualid}}" "{{diseaseid}}" "00206818" "00198" "00239987" "01907" "00239988" "01907" "00239989" "01907" "00239990" "01907" "00239991" "01907" "00239992" "01907" "00239993" "01907" "00239994" "01907" "00239995" "01907" "00239996" "01907" "00239997" "01907" "00239998" "01907" "00239999" "01907" "00240000" "01907" "00240001" "01907" "00240002" "01907" "00240003" "01907" "00240004" "01907" "00240005" "01907" "00240006" "01907" "00240007" "01907" "00240008" "01907" "00240009" "01907" "00240010" "01907" "00240011" "01907" "00240012" "01907" "00240013" "01907" "00240014" "01907" "00240015" "01907" "00240016" "01907" "00240017" "01907" "00240018" "01907" "00240019" "01907" "00240020" "01907" "00240021" "01907" "00240022" "01907" "00240023" "01907" "00240024" "01907" "00240025" "01907" "00240026" "01907" "00240027" "01907" "00240028" "01907" "00240029" "00000" "00240030" "01907" "00240031" "01907" "00240032" "00000" "00292038" "00198" "00292039" "00198" "00292040" "00198" "00309220" "04214" "00317993" "00139" "00334000" "04214" "00361589" "00139" "00387765" "00139" "00389437" "04214" "00440448" "00198" "00456270" "00198" "00469074" "00198" "00469075" "00198" "00469076" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00139, 00198, 01907, 04214 ## Count = 14 "{{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}}" "0000154607" "00198" "00206818" "01807" "Unknown" "" "HP:0001251 (Ataxia)" "" "" "" "" "" "" "" "" "" "" "" "0000180195" "01907" "00240030" "00000" "Isolated (sporadic)" "" "mildly affected; vacuolated leukocytes and fibroblasts" "" "" "" "" "" "" "" "" "" "" "" "0000180196" "01907" "00240029" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000234540" "04214" "00309220" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "alpha-mannosidase B deficiency" "" "0000241777" "00139" "00317993" "00006" "Familial, autosomal recessive" "" "limb defects, mild ID, speech delay" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000252185" "04214" "00334000" "00000" "Familial, autosomal recessive" "45y" "clinical category IB" "" "" "" "" "" "" "" "" "" "alpha mannosidosis" "" "0000256994" "00139" "00361589" "00006" "Familial, autosomal recessive" "2y7m" "syndromic; intellectual disability, craniosynostosis, macrocephaly, dysmorphic features, hydrocephalus" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000281333" "00139" "00387765" "00006" "Familial, autosomal recessive" "" "syndromic intellectual disability, no microcephaly" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000282978" "04214" "00389437" "00000" "Familial, autosomal recessive" "35y" "age at genetic diagnosis mentioned" "" "30y" "" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000330358" "00198" "00440448" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Alpha-mannosidosis (MIM#248500)" "" "" "0000344789" "00198" "00456270" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "lysosomal storage disorder" "" "0000354227" "00198" "00469074" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "multiple congenital anomalies" "" "0000354228" "00198" "00469075" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "abnormality of the cardiovascular system" "" "0000354229" "00198" "00469076" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "multiple congenital anomalies" "" ## Screenings ## Do not remove or alter this header ## ## Count = 61 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000207852" "00206818" "1" "01807" "01807" "2018-11-14 14:33:28" "" "" "SEQ" "DNA" "" "" "0000241091" "00239987" "1" "00233" "00233" "2012-06-05 09:48:53" "" "" "SEQ" "DNA" "" "" "0000241092" "00239988" "1" "00233" "00233" "2012-06-05 09:48:53" "" "" "SEQ" "DNA" "" "" "0000241093" "00239989" "1" "00233" "00233" "2012-06-05 09:48:53" "" "" "SEQ" "DNA" "" "" "0000241094" "00239990" "1" "00233" "00233" "2012-06-05 09:48:53" "" "" "SEQ" "DNA" "" "" "0000241095" "00239991" "1" "00233" "00233" "2012-06-05 09:48:53" "" "" "SEQ" "DNA" "" "" "0000241096" "00239992" "1" "00233" "00233" "2012-06-05 09:48:53" "" "" "SEQ" "DNA" "" "" "0000241097" "00239993" "1" "00233" "00233" "2012-06-05 09:48:53" "" "" "SEQ" "DNA" "" "" "0000241098" "00239994" "1" "00233" "00233" "2012-06-05 09:48:53" "" "" "SEQ" "DNA" "" "" "0000241099" "00239995" "1" "00233" "00233" "2012-06-05 09:48:53" "" "" "SEQ" "DNA" "" "" "0000241100" "00239996" "1" "00233" "00233" "2012-06-05 09:48:53" "" "" "SEQ" "DNA" "" "" "0000241101" "00239997" "1" "00233" "00233" "2012-06-05 09:48:53" "" "" "SEQ" "DNA" "" "" "0000241102" "00239998" "1" "00233" "00233" "2012-06-05 09:48:53" "" "" "SEQ" "DNA" "" "" "0000241103" "00239999" "1" "00233" "00233" "2012-06-05 09:48:53" "" "" "SEQ" "DNA" "" "" "0000241104" "00240000" "1" "00233" "00233" "2012-06-05 09:48:53" "" "" "SEQ" "DNA" "" "" "0000241105" "00240001" "1" "00233" "00233" "2012-06-05 09:48:53" "" "" "SEQ" "DNA" "" "" "0000241106" "00240002" "1" "00233" "00233" "2012-06-05 09:48:53" "" "" "SEQ" "DNA" "" "" "0000241107" "00240003" "1" "00233" "00233" "2012-06-05 09:48:53" "" "" "SEQ" "DNA" "" "" "0000241108" "00240004" "1" "00233" "00233" "2012-06-05 09:48:53" "" "" "SEQ" "DNA" "" "" "0000241109" "00240005" "1" "00233" "00233" "2012-06-05 09:48:53" "" "" "SEQ" "DNA" "" "" "0000241110" "00240006" "1" "00233" "00233" "2012-06-05 09:48:53" "" "" "SEQ" "DNA" "" "" "0000241111" "00240007" "1" "00233" "00233" "2012-06-05 09:48:53" "" "" "SEQ" "DNA" "" "" "0000241112" "00240008" "1" "00233" "00233" "2012-06-05 09:48:53" "" "" "SEQ" "DNA" "" "" "0000241113" "00240009" "1" "00233" "00233" "2012-06-05 09:48:53" "" "" "SEQ" "DNA" "" "" "0000241114" "00240010" "1" "00233" "00233" "2012-06-05 09:48:53" "" "" "SEQ" "DNA" "" "" "0000241115" "00240011" "1" "00233" "00233" "2012-06-05 09:48:53" "" "" "SEQ" "DNA" "" "" "0000241116" "00240012" "1" "00233" "00233" "2012-06-05 09:48:53" "" "" "SEQ" "DNA" "" "" "0000241117" "00240013" "1" "00233" "00233" "2012-06-05 09:48:53" "" "" "SEQ" "DNA" "" "" "0000241118" "00240014" "1" "00233" "00233" "2012-06-05 09:48:53" "" "" "SEQ" "DNA" "" "" "0000241119" "00240015" "1" "00233" "00233" "2012-06-05 09:48:53" "" "" "SEQ" "DNA" "" "" "0000241120" "00240016" "1" "00233" "00233" "2012-06-05 09:48:53" "" "" "SEQ" "DNA" "" "" "0000241121" "00240017" "1" "00233" "00233" "2012-06-05 09:48:53" "" "" "SEQ" "DNA" "" "" "0000241122" "00240018" "1" "00233" "00233" "2012-06-05 09:48:53" "" "" "SEQ" "DNA" "" "" "0000241123" "00240019" "1" "00233" "00233" "2012-06-05 09:48:53" "" "" "SEQ" "DNA" "" "" "0000241124" "00240020" "1" "00233" "00233" "2012-06-05 09:48:53" "" "" "SEQ" "DNA" "" "" "0000241125" "00240021" "1" "00233" "00233" "2012-06-05 09:48:53" "" "" "SEQ" "DNA" "" "" "0000241126" "00240022" "1" "00233" "00233" "2012-06-05 09:48:53" "" "" "SEQ" "DNA" "" "" "0000241127" "00240023" "1" "00233" "00233" "2012-06-05 09:48:53" "" "" "SEQ" "DNA" "" "" "0000241128" "00240024" "1" "00233" "00233" "2012-06-05 09:48:53" "" "" "SEQ" "DNA" "" "" "0000241129" "00240025" "1" "00233" "00233" "2012-06-05 09:48:53" "" "" "SEQ" "DNA" "" "" "0000241130" "00240026" "1" "00233" "00233" "2012-06-05 09:48:53" "" "" "SEQ" "DNA" "" "" "0000241131" "00240027" "1" "00233" "00233" "2012-06-05 09:48:53" "" "" "SEQ" "DNA" "" "" "0000241132" "00240028" "1" "00233" "00233" "2012-06-05 09:48:53" "" "" "SEQ" "DNA" "" "" "0000241133" "00240029" "1" "00000" "00006" "2011-09-12 11:33:44" "" "" "SEQ" "DNA;RNA" "" "" "0000241134" "00240030" "1" "00000" "00006" "2011-09-12 10:27:02" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000241135" "00240031" "1" "00000" "00006" "2011-09-12 11:33:44" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000241136" "00240032" "1" "00000" "00006" "2011-09-12 11:33:44" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000293206" "00292038" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293207" "00292039" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293208" "00292040" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000310365" "00309220" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000319175" "00317993" "1" "00006" "00006" "2020-11-05 17:52:36" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000335226" "00334000" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" "" "0000362817" "00361589" "1" "00006" "00006" "2021-04-07 19:07:03" "" "" "SEQ-NG" "DNA" "" "WES" "0000388996" "00387765" "1" "00006" "00006" "2021-10-31 12:02:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000390680" "00389437" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET4 targeted sequencing panel - see paper" "0000441933" "00440448" "1" "00006" "00006" "2023-11-02 14:36:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000457887" "00456270" "1" "00006" "00006" "2024-10-24 08:52:57" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000470742" "00469074" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000470743" "00469075" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000470744" "00469076" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 52 "{{screeningid}}" "{{geneid}}" "0000241091" "MAN2B1" "0000241092" "MAN2B1" "0000241093" "MAN2B1" "0000241094" "MAN2B1" "0000241095" "MAN2B1" "0000241096" "MAN2B1" "0000241097" "MAN2B1" "0000241098" "MAN2B1" "0000241099" "MAN2B1" "0000241100" "MAN2B1" "0000241101" "MAN2B1" "0000241102" "MAN2B1" "0000241103" "MAN2B1" "0000241104" "MAN2B1" "0000241105" "MAN2B1" "0000241106" "MAN2B1" "0000241107" "MAN2B1" "0000241108" "MAN2B1" "0000241109" "MAN2B1" "0000241110" "MAN2B1" "0000241111" "MAN2B1" "0000241112" "MAN2B1" "0000241113" "MAN2B1" "0000241114" "MAN2B1" "0000241115" "MAN2B1" "0000241116" "MAN2B1" "0000241117" "MAN2B1" "0000241118" "MAN2B1" "0000241119" "MAN2B1" "0000241120" "MAN2B1" "0000241121" "MAN2B1" "0000241122" "MAN2B1" "0000241123" "MAN2B1" "0000241124" "MAN2B1" "0000241125" "MAN2B1" "0000241126" "MAN2B1" "0000241127" "MAN2B1" "0000241128" "MAN2B1" "0000241129" "MAN2B1" "0000241130" "MAN2B1" "0000241131" "MAN2B1" "0000241132" "MAN2B1" "0000241133" "MAN2B1" "0000241134" "MAN2B1" "0000241135" "MAN2B1" "0000241136" "MAN2B1" "0000310365" "MAN2B1" "0000319175" "MAN2B1" "0000335226" "MAN2B1" "0000362817" "MAN2B1" "0000388996" "MAN2B1" "0000390680" "MAN2B1" ## 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 = 203 "{{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}}" "0000252456" "0" "70" "19" "12776515" "12776515" "subst" "0" "02326" "MAN2B1_000047" "g.12776515A>C" "" "" "" "MAN2B1(NM_000528.4):c.262+2T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.12665701A>C" "" "likely pathogenic" "" "0000279556" "0" "10" "19" "12772090" "12772090" "subst" "0.306595" "02330" "MAN2B1_000070" "g.12772090C>T" "" "" "" "MAN2B1(NM_000528.4):c.1010G>A (p.R337Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.12661276C>T" "" "benign" "" "0000279557" "0" "10" "19" "12768948" "12768948" "subst" "0.0906143" "02330" "MAN2B1_000066" "g.12768948T>C" "" "" "" "MAN2B1(NM_000528.4):c.1238A>G (p.N413S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.12658134T>C" "" "benign" "" "0000279558" "0" "10" "19" "12767853" "12767853" "subst" "0.000553349" "02330" "MAN2B1_000065" "g.12767853C>A" "" "" "" "MAN2B1(NM_000528.3):c.1437G>T (p.A479=), MAN2B1(NM_000528.4):c.1437G>T (p.A479=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.12657039C>A" "" "benign" "" "0000279559" "0" "10" "19" "12767849" "12767849" "subst" "0.0254044" "02330" "MAN2B1_000064" "g.12767849C>A" "" "" "" "MAN2B1(NM_000528.3):c.1441G>T (p.(Ala481Ser)), MAN2B1(NM_000528.4):c.1441G>T (p.A481S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.12657035C>A" "" "benign" "" "0000279560" "0" "10" "19" "12760898" "12760898" "subst" "0.000178834" "02330" "MAN2B1_000061" "g.12760898T>C" "" "" "" "MAN2B1(NM_000528.4):c.2165+20A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.12650084T>C" "" "benign" "" "0000279561" "0" "10" "19" "12760773" "12760773" "subst" "0.00415394" "02330" "MAN2B1_000060" "g.12760773C>T" "" "" "" "MAN2B1(NM_000528.4):c.2221G>A (p.G741R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.12649959C>T" "" "benign" "" "0000279563" "0" "10" "19" "12760200" "12760200" "subst" "0.0124968" "02330" "MAN2B1_000057" "g.12760200G>A" "" "" "" "MAN2B1(NM_000528.4):c.2310C>T (p.P770=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.12649386G>A" "" "benign" "" "0000279564" "0" "90" "19" "12776548" "12776548" "subst" "0" "02330" "MAN2B1_000048" "g.12776548C>T" "" "" "" "MAN2B1(NM_000528.4):c.231G>A (p.W77*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.12665734C>T" "" "pathogenic" "" "0000279565" "0" "70" "19" "12759988" "12759988" "subst" "8.12301E-6" "02330" "MAN2B1_000056" "g.12759988C>G" "" "" "" "MAN2B1(NM_000528.4):c.2398G>C (p.G800R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.12649174C>G" "" "likely pathogenic" "" "0000279566" "0" "50" "19" "12759982" "12759982" "subst" "0.000548335" "02330" "MAN2B1_000055" "g.12759982T>C" "" "" "" "MAN2B1(NM_000528.4):c.2404A>G (p.S802G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.12649168T>C" "" "VUS" "" "0000279567" "0" "10" "19" "12759933" "12759933" "subst" "0.0110008" "02330" "MAN2B1_000054" "g.12759933G>A" "" "" "" "MAN2B1(NM_000528.4):c.2436+17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.12649119G>A" "" "benign" "" "0000279568" "0" "10" "19" "12759091" "12759091" "subst" "0.00277102" "02330" "MAN2B1_000053" "g.12759091G>C" "" "" "" "MAN2B1(NM_000528.4):c.2562C>G (p.A854=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.12648277G>C" "" "benign" "" "0000279569" "0" "10" "19" "12775617" "12775617" "subst" "0" "02330" "MAN2B1_000045" "g.12775617G>A" "" "" "" "MAN2B1(NM_000528.4):c.619C>T (p.L207=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.12664803G>A" "" "benign" "" "0000279570" "0" "10" "19" "12774532" "12774532" "subst" "0.00122562" "02330" "MAN2B1_000044" "g.12774532C>A" "" "" "" "MAN2B1(NM_000528.4):c.748G>T (p.A250S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.12663718C>A" "" "benign" "" "0000279571" "0" "10" "19" "12774208" "12774208" "subst" "0.250847" "02330" "MAN2B1_000073" "g.12774208G>C" "" "" "" "MAN2B1(NM_000528.4):c.832C>G (p.L278V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.12663394G>C" "" "benign" "" "0000279572" "0" "10" "19" "12772165" "12772165" "subst" "0.331636" "02330" "MAN2B1_000071" "g.12772165G>A" "" "" "" "MAN2B1(NM_000528.4):c.935C>T (p.T312I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.12661351G>A" "" "benign" "" "0000282367" "0" "10" "19" "12772090" "12772090" "subst" "0.306595" "02325" "MAN2B1_000070" "g.12772090C>T" "" "" "" "MAN2B1(NM_000528.4):c.1010G>A (p.R337Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.12661276C>T" "" "benign" "" "0000282368" "0" "10" "19" "12774208" "12774208" "subst" "0.250847" "02325" "MAN2B1_000073" "g.12774208G>C" "" "" "" "MAN2B1(NM_000528.4):c.832C>G (p.L278V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.12663394G>C" "" "benign" "" "0000282369" "0" "10" "19" "12772165" "12772165" "subst" "0.331636" "02325" "MAN2B1_000071" "g.12772165G>A" "" "" "" "MAN2B1(NM_000528.4):c.935C>T (p.T312I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.12661351G>A" "" "benign" "" "0000286104" "0" "30" "19" "12767769" "12767769" "subst" "0.00116202" "02326" "MAN2B1_000063" "g.12767769C>A" "" "" "" "MAN2B1(NM_000528.3):c.1521G>T (p.A507=), MAN2B1(NM_000528.4):c.1521G>T (p.A507=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.12656955C>A" "" "likely benign" "" "0000291420" "0" "30" "19" "12772066" "12772066" "subst" "8.12374E-5" "01943" "MAN2B1_000069" "g.12772066G>A" "" "" "" "MAN2B1(NM_000528.3):c.1026+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.12661252G>A" "" "likely benign" "" "0000291421" "0" "10" "19" "12766594" "12766594" "subst" "0.00176954" "01943" "MAN2B1_000062" "g.12766594G>C" "" "" "" "MAN2B1(NM_000528.3):c.1744C>G (p.Q582E), MAN2B1(NM_000528.4):c.1744C>G (p.Q582E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.12655780G>C" "" "benign" "" "0000291422" "0" "30" "19" "12760734" "12760734" "subst" "0.00120606" "01943" "MAN2B1_000059" "g.12760734C>T" "" "" "" "MAN2B1(NM_000528.3):c.2260G>A (p.E754K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.12649920C>T" "" "likely benign" "" "0000291423" "0" "30" "19" "12758407" "12758407" "subst" "0.000314838" "01943" "MAN2B1_000051" "g.12758407T>C" "" "" "" "MAN2B1(NM_000528.3):c.2670A>G (p.S890=), MAN2B1(NM_000528.4):c.2670A>G (p.S890=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.12647593T>C" "" "likely benign" "" "0000291424" "0" "50" "19" "12776226" "12776226" "subst" "1.63179E-5" "01943" "MAN2B1_000046" "g.12776226G>A" "" "" "" "MAN2B1(NM_000528.3):c.376C>T (p.R126C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.12665412G>A" "" "VUS" "" "0000291425" "0" "30" "19" "12774196" "12774196" "subst" "0.00258264" "01943" "MAN2B1_000072" "g.12774196G>A" "" "" "" "MAN2B1(NM_000528.3):c.844C>T (p.P282S, p.(Pro282Ser)), MAN2B1(NM_000528.4):c.844C>T (p.P282S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.12663382G>A" "" "likely benign" "" "0000326216" "0" "50" "19" "12758408" "12758408" "subst" "0" "01804" "MAN2B1_000052" "g.12758408G>C" "" "" "" "MAN2B1(NM_000528.3):c.2669C>G (p.(Ser890Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.12647594G>C" "" "VUS" "" "0000326217" "0" "50" "19" "12769064" "12769064" "subst" "2.03178E-5" "01804" "MAN2B1_000067" "g.12769064C>T" "" "" "" "MAN2B1(NM_000528.3):c.1204G>A (p.E402K, p.(Glu402Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.12658250C>T" "" "VUS" "" "0000326218" "0" "50" "19" "12769114" "12769114" "subst" "4.06147E-5" "01804" "MAN2B1_000068" "g.12769114T>C" "" "" "" "MAN2B1(NM_000528.3):c.1154A>G (p.(His385Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.12658300T>C" "" "VUS" "" "0000326219" "0" "30" "19" "12774196" "12774196" "subst" "0.00258264" "01804" "MAN2B1_000072" "g.12774196G>A" "" "" "" "MAN2B1(NM_000528.3):c.844C>T (p.P282S, p.(Pro282Ser)), MAN2B1(NM_000528.4):c.844C>T (p.P282S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.12663382G>A" "" "likely benign" "" "0000437558" "0" "90" "19" "12766674" "12766674" "subst" "0" "01807" "MAN2B1_000049" "g.12766674G>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.12655860G>C" "" "pathogenic" "" "0000437559" "0" "90" "19" "12774511" "12774517" "del" "0" "01807" "MAN2B1_000050" "g.12774511_12774517del" "" "" "" "763+2_763+8delTAGGGGG" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.12663697_12663703del" "" "pathogenic" "" "0000486870" "0" "95" "19" "12776615" "12776615" "subst" "0" "00233" "MAN2B1_000003" "g.12776615C>A" "" "{PMID:Riise Stensland et al (2012):22161967}" "" "" "submitted through SIB; {EXP:068034}; The mutant has less than 20% of WT alpha-mannosidase activity" "Unknown" "" "" "0" "" "" "g.12665801C>A" "" "pathogenic" "" "0000486871" "0" "95" "19" "12776564" "12776564" "subst" "0" "00233" "MAN2B1_000002" "g.12776564T>A" "" "{PMID:Gotoda et al (1998):9758606}" "" "" "submitted through SIB; {EXP:003338}" "Unknown" "" "" "0" "" "" "g.12665750T>A" "" "pathogenic" "" "0000486872" "0" "95" "19" "12776557" "12776557" "subst" "2.03057E-5" "00233" "MAN2B1_000004" "g.12776557G>T" "" "{PMID:Riise Stensland et al (2012):22161967}" "" "" "submitted through SIB; {EXP:068035}; The mutant has less than 20% of WT alpha-mannosidase activity" "Unknown" "" "" "0" "" "" "g.12665743G>T" "" "pathogenic" "" "0000486873" "0" "95" "19" "12776319" "12776319" "subst" "0" "00233" "MAN2B1_000005" "g.12776319C>G" "" "{PMID:Riise Stensland et al (2012):22161967}" "" "" "submitted through SIB; {EXP:068036}; The mutant has less than 20% of WT alpha-mannosidase activity" "Unknown" "" "" "0" "" "" "g.12665505C>G" "" "pathogenic" "" "0000486874" "0" "95" "19" "12776307" "12776307" "subst" "0" "00233" "MAN2B1_000006" "g.12776307A>G" "" "{PMID:Riise Stensland et al (2012):22161967}" "" "" "submitted through SIB; {EXP:068037}; The mutant has less than 20% of WT alpha-mannosidase activity" "Unknown" "" "" "0" "" "" "g.12665493A>G" "" "pathogenic" "" "0000486875" "0" "95" "19" "12775761" "12775761" "subst" "0" "00233" "MAN2B1_000007" "g.12775761C>T" "" "{PMID:Riise Stensland et al (2012):22161967}" "" "" "submitted through SIB; {EXP:068038}; The mutant has less than 20% of WT alpha-mannosidase activity" "Unknown" "" "" "0" "" "" "g.12664947C>T" "" "pathogenic" "" "0000486876" "0" "95" "19" "12775646" "12775646" "subst" "0" "00233" "MAN2B1_000008" "g.12775646G>C" "" "{PMID:Riise Stensland et al (2012):22161967}" "" "" "submitted through SIB; {EXP:068039}; The mutant has less than 20% of WT alpha-mannosidase activity" "Unknown" "" "" "0" "" "" "g.12664832G>C" "" "pathogenic" "" "0000486877" "0" "95" "19" "12775638" "12775638" "subst" "8.18987E-6" "00233" "MAN2B1_000009" "g.12775638G>T" "" "{PMID:Riise Stensland et al (2012):22161967}" "" "" "submitted through SIB; {EXP:068040}" "Unknown" "" "" "0" "" "" "g.12664824G>T" "" "pathogenic" "" "0000486878" "0" "95" "19" "12775637" "12775637" "subst" "0" "00233" "MAN2B1_000010" "g.12775637T>A" "" "{PMID:Sbaragli et al (2005):15712269}" "" "" "submitted through SIB; {EXP:026412}; The mutant has no residual alpha-mannosidase activity" "Unknown" "" "" "0" "" "" "g.12664823T>A" "" "pathogenic" "" "0000486879" "0" "95" "19" "12775637" "12775637" "subst" "0" "00233" "MAN2B1_000010" "g.12775637T>A" "" "{PMID:Riise Stensland et al (2012):22161967}" "" "" "submitted through SIB; {EXP:026412}; The mutant has no residual alpha-mannosidase activity" "Unknown" "" "" "0" "" "" "g.12664823T>A" "" "pathogenic" "" "0000486880" "0" "95" "19" "12775631" "12775631" "subst" "0" "00233" "MAN2B1_000011" "g.12775631C>G" "" "{PMID:Riise Stensland et al (2012):22161967}" "" "" "submitted through SIB; {EXP:068041}" "Unknown" "" "" "0" "" "" "g.12664817C>G" "" "pathogenic" "" "0000486881" "0" "95" "19" "12774595" "12774595" "subst" "1.62439E-5" "00233" "MAN2B1_000012" "g.12774595G>A" "" "{PMID:Riise Stensland et al (2012):22161967}" "" "" "submitted through SIB; {EXP:068042}" "Unknown" "" "" "0" "" "" "g.12663781G>A" "" "pathogenic" "" "0000486882" "0" "95" "19" "12774252" "12774252" "subst" "4.06276E-6" "00233" "MAN2B1_000013" "g.12774252G>A" "" "{PMID:Riise Stensland et al (2012):22161967}" "" "" "submitted through SIB; {EXP:068044}; The mutant has less than 20% of WT alpha-mannosidase activity" "Unknown" "" "" "0" "" "" "g.12663438G>A" "" "pathogenic" "" "0000486883" "0" "95" "19" "12772147" "12772147" "subst" "4.06058E-6" "00233" "MAN2B1_000014" "g.12772147G>A" "" "{PMID:Riise Stensland et al (2012):22161967}" "" "" "submitted through SIB; {EXP:068046}" "Unknown" "" "" "0" "" "" "g.12661333G>A" "" "pathogenic" "" "0000486884" "0" "95" "19" "12769296" "12769296" "subst" "0" "00233" "MAN2B1_000015" "g.12769296A>G" "" "{PMID:Riise Stensland et al (2012):22161967}" "" "" "submitted through SIB; {EXP:068048}; The mutant has less than 20% of WT alpha-mannosidase activity" "Unknown" "" "" "0" "" "" "g.12658482A>G" "" "pathogenic" "" "0000486885" "0" "95" "19" "12769288" "12769288" "subst" "0" "00233" "MAN2B1_000038" "g.12769288T>G" "" "{PMID:Berg et al (1999):9915946}" "" "" "submitted through SIB; {EXP:003342}" "Unknown" "" "" "0" "" "" "g.12658474T>G" "" "pathogenic" "" "0000486886" "0" "95" "19" "12769284" "12769284" "subst" "0" "00233" "MAN2B1_000036" "g.12769284G>C" "" "{PMID:Gotoda et al (1998):9758606}" "" "" "submitted through SIB; {EXP:003343}" "Unknown" "" "" "0" "" "" "g.12658470G>C" "" "pathogenic" "" "0000486887" "0" "95" "19" "12769132" "12769132" "subst" "0" "00233" "MAN2B1_000016" "g.12769132G>A" "" "{PMID:Riise Stensland et al (2012):22161967}" "" "" "submitted through SIB; {EXP:068049}" "Unknown" "" "" "0" "" "" "g.12658318G>A" "" "pathogenic" "" "0000486888" "0" "95" "19" "12769100" "12769100" "subst" "0" "00233" "MAN2B1_000017" "g.12769100C>A" "" "{PMID:Riise Stensland et al (2012):22161967}" "" "" "submitted through SIB; {EXP:068050}; The mutant has less than 20% of WT alpha-mannosidase activity" "Unknown" "" "" "0" "" "" "g.12658286C>A" "" "pathogenic" "" "0000486889" "0" "95" "19" "12769064" "12769064" "subst" "2.03178E-5" "00233" "MAN2B1_000039" "g.12769064C>T" "" "{PMID:Berg et al (1999):9915946}" "" "" "submitted through SIB; {EXP:003344}" "Unknown" "" "" "0" "" "" "g.12658250C>T" "" "pathogenic" "" "0000486890" "0" "95" "19" "12768927" "12768927" "subst" "1.63275E-5" "00233" "MAN2B1_000018" "g.12768927C>A" "" "{PMID:Riise Stensland et al (2012):22161967}" "" "" "submitted through SIB; {EXP:068051}; The mutant has less than 20% of WT alpha-mannosidase activity" "Unknown" "" "" "0" "" "" "g.12658113C>A" "" "pathogenic" "" "0000486891" "0" "95" "19" "12768346" "12768346" "subst" "0" "00233" "MAN2B1_000019" "g.12768346G>A" "" "{PMID:Riise Stensland et al (2012):22161967}" "" "" "submitted through SIB; {EXP:068052}; The mutant has less than 20% of WT alpha-mannosidase activity" "Unknown" "" "" "0" "" "" "g.12657532G>A" "" "pathogenic" "" "0000486892" "0" "95" "19" "12768328" "12768328" "subst" "0" "00233" "MAN2B1_000020" "g.12768328C>A" "" "{PMID:Riise Stensland et al (2012):22161967}" "" "" "submitted through SIB; {EXP:068053}" "Unknown" "" "" "0" "" "" "g.12657514C>A" "" "pathogenic" "" "0000486893" "0" "95" "19" "12768321" "12768321" "subst" "0" "00233" "MAN2B1_000021" "g.12768321G>T" "" "{PMID:Riise Stensland et al (2012):22161967}" "" "" "submitted through SIB; {EXP:026413}" "Unknown" "" "" "0" "" "" "g.12657507G>T" "" "pathogenic" "" "0000486894" "0" "95" "19" "12768321" "12768321" "subst" "0" "00233" "MAN2B1_000022" "g.12768321G>A" "" "{PMID:Riise Stensland et al (2012):22161967}" "" "" "submitted through SIB; {EXP:068054}" "Unknown" "" "" "0" "" "" "g.12657507G>A" "" "pathogenic" "" "0000486895" "0" "95" "19" "12768309" "12768309" "subst" "0" "00233" "MAN2B1_000023" "g.12768309A>T" "" "{PMID:Riise Stensland et al (2012):22161967}" "" "" "submitted through SIB; {EXP:068055}" "Unknown" "" "" "0" "" "" "g.12657495A>T" "" "pathogenic" "" "0000486896" "0" "95" "19" "12767789" "12767789" "subst" "0" "00233" "MAN2B1_000024" "g.12767789A>T" "" "{PMID:Riise Stensland et al (2012):22161967}" "" "" "submitted through SIB; {EXP:068056}" "Unknown" "" "" "0" "" "" "g.12656975A>T" "" "pathogenic" "" "0000486897" "0" "95" "19" "12766644" "12766644" "subst" "0" "00233" "MAN2B1_000025" "g.12766644A>G" "" "{PMID:Riise Stensland et al (2012):22161967}" "" "" "submitted through SIB; {EXP:068057}; The mutant has less than 20% of WT alpha-mannosidase activity" "Unknown" "" "" "0" "" "" "g.12655830A>G" "" "pathogenic" "" "0000486898" "0" "95" "19" "12760943" "12760943" "subst" "0" "00233" "MAN2B1_000040" "g.12760943A>G" "" "{PMID:Berg et al (1999):9915946}" "" "" "submitted through SIB; {EXP:003346}" "Unknown" "" "" "0" "" "" "g.12650129A>G" "" "pathogenic" "" "0000486899" "0" "95" "19" "12760760" "12760760" "subst" "0" "00233" "MAN2B1_000026" "g.12760760G>C" "" "{PMID:Riise Stensland et al (2012):22161967}" "" "" "submitted through SIB; {EXP:068059}; The mutant has less than 20% of WT alpha-mannosidase activity" "Unknown" "" "" "0" "" "" "g.12649946G>C" "" "pathogenic" "" "0000486900" "0" "95" "19" "12760746" "12760746" "subst" "0.000235523" "00233" "MAN2B1_000037" "g.12760746G>A" "" "{PMID:Gotoda et al (1998):9758606}" "" "" "submitted through SIB; {EXP:003347}" "Unknown" "" "" "0" "" "" "g.12649932G>A" "" "pathogenic" "" "0000486901" "0" "95" "19" "12759988" "12759988" "subst" "8.12301E-6" "00233" "MAN2B1_000027" "g.12759988C>G" "" "{PMID:Riise Stensland et al (2012):22161967}" "" "" "submitted through SIB; {EXP:068060}; The mutant has less than 20% of WT alpha-mannosidase activity" "Unknown" "" "" "0" "" "" "g.12649174C>G" "" "pathogenic" "" "0000486902" "0" "95" "19" "12759988" "12759988" "subst" "4.06151E-6" "00233" "MAN2B1_000028" "g.12759988C>A" "" "{PMID:Riise Stensland et al (2012):22161967}" "" "" "submitted through SIB; {EXP:068061}; The mutant has less than 20% of WT alpha-mannosidase activity" "Unknown" "" "" "0" "" "" "g.12649174C>A" "" "pathogenic" "" "0000486903" "0" "95" "19" "12759984" "12759984" "subst" "0" "00233" "MAN2B1_000042" "g.12759984C>T" "" "{PMID:Sbaragli et al (2005):15712269}" "" "" "submitted through SIB; {EXP:026414}; The mutant has no residual alpha-mannosidase activity" "Unknown" "" "" "0" "" "" "g.12649170C>T" "" "pathogenic" "" "0000486904" "0" "95" "19" "12759960" "12759960" "subst" "6.50311E-5" "00233" "MAN2B1_000041" "g.12759960A>G" "" "{PMID:Berg et al (1999):9915946}" "" "" "submitted through SIB; {EXP:003348}" "Unknown" "" "" "0" "" "" "g.12649146A>G" "" "pathogenic" "" "0000486905" "0" "95" "19" "12758406" "12758406" "subst" "0" "00233" "MAN2B1_000029" "g.12758406C>T" "" "{PMID:Riise Stensland et al (2012):22161967}" "" "" "submitted through SIB; {EXP:068063}; The mutant has less than 20% of WT alpha-mannosidase activity" "Unknown" "" "" "0" "" "" "g.12647592C>T" "" "pathogenic" "" "0000486906" "0" "95" "19" "12758402" "12758402" "subst" "0" "00233" "MAN2B1_000030" "g.12758402A>G" "" "{PMID:Riise Stensland et al (2012):22161967}" "" "" "submitted through SIB; {EXP:068064}; The mutant has less than 20% of WT alpha-mannosidase activity" "Unknown" "" "" "0" "" "" "g.12647588A>G" "" "pathogenic" "" "0000486907" "0" "95" "19" "12758331" "12758331" "subst" "0" "00233" "MAN2B1_000031" "g.12758331G>A" "" "{PMID:Riise Stensland et al (2012):22161967}" "" "" "submitted through SIB; {EXP:068065}; The mutant has less than 20% of WT alpha-mannosidase activity" "Unknown" "" "" "0" "" "" "g.12647517G>A" "" "pathogenic" "" "0000486908" "0" "95" "19" "12758330" "12758330" "subst" "8.14803E-6" "00233" "MAN2B1_000032" "g.12758330C>T" "" "{PMID:Riise Stensland et al (2012):22161967}" "" "" "submitted through SIB; {EXP:068066}; The mutant has less than 20% of WT alpha-mannosidase activity" "Unknown" "" "" "0" "" "" "g.12647516C>T" "" "pathogenic" "" "0000486909" "0" "95" "19" "12758121" "12758121" "subst" "0" "00233" "MAN2B1_000033" "g.12758121C>G" "" "{PMID:Riise Stensland et al (2012):22161967}" "" "" "submitted through SIB; {EXP:068067}; The mutant has less than 20% of WT alpha-mannosidase activity" "Unknown" "" "" "0" "" "" "g.12647307C>G" "" "pathogenic" "" "0000486910" "0" "95" "19" "12758103" "12758103" "subst" "2.43649E-5" "00233" "MAN2B1_000034" "g.12758103A>C" "" "{PMID:Riise Stensland et al (2012):22161967}" "" "" "submitted through SIB; {EXP:068068}; The mutant has less than 20% of WT alpha-mannosidase activity" "Unknown" "" "" "0" "" "" "g.12647289A>C" "" "pathogenic" "" "0000486911" "0" "95" "19" "12757471" "12757471" "subst" "4.06072E-6" "00233" "MAN2B1_000035" "g.12757471A>G" "" "{PMID:Riise Stensland et al (2012):22161967}" "" "" "submitted through SIB; {EXP:068069}; The mutant has less than 20% of WT alpha-mannosidase activity" "Unknown" "" "" "0" "" "" "g.12646657A>G" "" "pathogenic" "" "0000486912" "11" "95" "19" "12776564" "12776564" "subst" "0" "00000" "MAN2B1_000002" "g.12776564T>A" "" "{PMID:Nilssen 1997:09158146}, {OMIM609458:0001}" "" "A212T (His71Leu)" "not in 46 control chromosomes; 20% residual acidic alpha-mannosidase activity (fibroblasts)" "Germline" "" "" "0" "" "" "g.12665750T>A" "" "pathogenic" "" "0000486913" "20" "95" "19" "12776564" "12776564" "subst" "0" "00000" "MAN2B1_000002" "g.12776564T>A" "" "{PMID:Nilssen 1997:09158146}, {OMIM609458:0001}" "" "A212T (His71Leu)" "not in 46 control chromosomes; 20% residual acidic alpha-mannosidase activity (fibroblasts)" "Germline" "" "" "0" "" "" "g.12665750T>A" "" "pathogenic" "" "0000486914" "11" "95" "19" "12776564" "12776564" "subst" "0" "00000" "MAN2B1_000002" "g.12776564T>A" "" "{PMID:Nilssen 1997:09158146}, {OMIM609458:0001}" "" "A212T (His71Leu)" "not in 46 control chromosomes; 20% residual acidic alpha-mannosidase activity (fibroblasts)" "Germline" "" "" "0" "" "" "g.12665750T>A" "" "pathogenic" "" "0000486915" "20" "95" "19" "12776564" "12776564" "subst" "0" "00000" "MAN2B1_000002" "g.12776564T>A" "" "{PMID:Nilssen 1997:09158146}, {OMIM609458:0001}" "" "A212T (His71Leu)" "not in 46 control chromosomes; 20% residual acidic alpha-mannosidase activity (fibroblasts)" "Germline" "" "" "0" "" "" "g.12665750T>A" "" "pathogenic" "" "0000486916" "11" "95" "19" "12776564" "12776564" "subst" "0" "00000" "MAN2B1_000002" "g.12776564T>A" "" "{PMID:Nilssen 1997:09158146}, {OMIM609458:0001}" "" "A212T (His71Leu)" "not in 46 control chromosomes" "Unknown" "" "" "0" "" "" "g.12665750T>A" "" "pathogenic" "" "0000486917" "11" "15" "19" "12772165" "12772165" "subst" "0.331636" "00000" "MAN2B1_000001" "g.12772165G>A" "" "{PMID:Nilssen 1997:09158146}" "MsiI" "C932T (Thr311Ile)" "disrupts putative N-glycosylation site" "Germline" "" "" "0" "" "" "g.12661351G>A" "" "benign" "" "0000486918" "20" "15" "19" "12772165" "12772165" "subst" "0.331636" "00000" "MAN2B1_000001" "g.12772165G>A" "" "{PMID:Nilssen 1997:09158146}" "MsiI" "C932T (Thr311Ile)" "disrupts putative N-glycosylation site" "Germline" "" "" "0" "" "" "g.12661351G>A" "" "benign" "" "0000486919" "11" "15" "19" "12772165" "12772165" "subst" "0.331636" "00000" "MAN2B1_000001" "g.12772165G>A" "" "{PMID:Nilssen 1997:09158146}" "MsiI" "C932T (Thr311Ile)" "disrupts putative N-glycosylation site" "Germline" "" "" "0" "" "" "g.12661351G>A" "" "benign" "" "0000486920" "20" "15" "19" "12772165" "12772165" "subst" "0.331636" "00000" "MAN2B1_000001" "g.12772165G>A" "" "{PMID:Nilssen 1997:09158146}" "MsiI" "C932T (Thr311Ile)" "disrupts putative N-glycosylation site" "Germline" "" "" "0" "" "" "g.12661351G>A" "" "benign" "" "0000486921" "20" "95" "19" "12772165" "12772165" "subst" "0.331636" "00000" "MAN2B1_000001" "g.12772165G>A" "" "{PMID:Nilssen 1997:09158146}" "MsiI" "C932T (Thr311Ile)" "" "Unknown" "" "" "0" "" "" "g.12661351G>A" "" "pathogenic" "" "0000486922" "11" "15" "19" "12772165" "12772165" "subst" "0.331636" "00000" "MAN2B1_000001" "g.12772165G>A" "" "{PMID:Nilssen 1997:09158146}" "MsiI" "C932T (Thr311Ile)" "" "Unknown" "" "" "0" "" "" "g.12661351G>A" "" "benign" "" "0000486923" "11" "15" "19" "12772165" "12772165" "subst" "0.331636" "00000" "MAN2B1_000001" "g.12772165G>A" "19/46" "{PMID:Nilssen 1997:09158146}" "MsiI" "C932T (Thr311Ile)" "46 control chromosomes" "Unknown" "" "" "0" "" "" "g.12661351G>A" "" "benign" "" "0000566083" "0" "10" "19" "12757418" "12757418" "subst" "4.06296E-5" "02330" "MAN2B1_000074" "g.12757418G>C" "" "" "" "MAN2B1(NM_000528.4):c.*16C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.12646604G>C" "" "benign" "" "0000566085" "0" "10" "19" "12757477" "12757477" "subst" "0.000844622" "02330" "MAN2B1_000075" "g.12757477C>T" "" "" "" "MAN2B1(NM_000528.3):c.2993G>A (p.(Arg998His)), MAN2B1(NM_000528.4):c.2993G>A (p.R998H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.12646663C>T" "" "benign" "" "0000566088" "0" "10" "19" "12758105" "12758105" "subst" "0.00279389" "02330" "MAN2B1_000078" "g.12758105C>G" "" "" "" "MAN2B1(NM_000528.3):c.2865G>C (p.T955=), MAN2B1(NM_000528.4):c.2865G>C (p.T955=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.12647291C>G" "" "benign" "" "0000566089" "0" "30" "19" "12758105" "12758105" "subst" "0.00279389" "01943" "MAN2B1_000078" "g.12758105C>G" "" "" "" "MAN2B1(NM_000528.3):c.2865G>C (p.T955=), MAN2B1(NM_000528.4):c.2865G>C (p.T955=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.12647291C>G" "" "likely benign" "" "0000566090" "0" "30" "19" "12758153" "12758153" "subst" "4.06194E-6" "01943" "MAN2B1_000079" "g.12758153C>T" "" "" "" "MAN2B1(NM_000528.3):c.2821-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.12647339C>T" "" "likely benign" "" "0000566091" "0" "30" "19" "12758407" "12758407" "subst" "0.000314838" "02326" "MAN2B1_000051" "g.12758407T>C" "" "" "" "MAN2B1(NM_000528.3):c.2670A>G (p.S890=), MAN2B1(NM_000528.4):c.2670A>G (p.S890=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.12647593T>C" "" "likely benign" "" "0000566092" "0" "30" "19" "12759184" "12759184" "subst" "2.49445E-5" "02330" "MAN2B1_000080" "g.12759184G>A" "" "" "" "MAN2B1(NM_000528.4):c.2469C>T (p.R823=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.12648370G>A" "" "likely benign" "" "0000566093" "0" "30" "19" "12760135" "12760135" "subst" "0.000154767" "02326" "MAN2B1_000081" "g.12760135G>A" "" "" "" "MAN2B1(NM_000528.4):c.2355+20C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.12649321G>A" "" "likely benign" "" "0000566094" "0" "10" "19" "12760724" "12760724" "subst" "0.00552749" "02330" "MAN2B1_000082" "g.12760724C>G" "" "" "" "MAN2B1(NM_000528.4):c.2267+3G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.12649910C>G" "" "benign" "" "0000566095" "0" "10" "19" "12760724" "12760724" "dup" "0" "02330" "MAN2B1_000083" "g.12760724dup" "" "" "" "MAN2B1(NM_000528.3):c.2267+8dupG (p.?), MAN2B1(NM_000528.4):c.2267+8dupG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.12649910dup" "" "benign" "" "0000566096" "0" "30" "19" "12761040" "12761040" "subst" "9.78992E-5" "01804" "MAN2B1_000084" "g.12761040C>T" "" "" "" "MAN2B1(NM_000528.3):c.2047-4G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.12650226C>T" "" "likely benign" "" "0000566098" "0" "30" "19" "12763052" "12763052" "subst" "8.93321E-5" "01943" "MAN2B1_000086" "g.12763052T>C" "" "" "" "MAN2B1(NM_000528.3):c.1961A>G (p.D654G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.12652238T>C" "" "likely benign" "" "0000566099" "0" "30" "19" "12766516" "12766516" "subst" "0.00123648" "01943" "MAN2B1_000087" "g.12766516C>T" "" "" "" "MAN2B1(NM_000528.3):c.1822G>A (p.E608K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.12655702C>T" "" "likely benign" "" "0000566100" "0" "30" "19" "12766623" "12766623" "subst" "0" "01804" "MAN2B1_000088" "g.12766623G>A" "" "" "" "MAN2B1(NM_000528.3):c.1715C>T (p.(Ala572Val)), MAN2B1(NM_000528.4):c.1715C>T (p.A572V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.12655809G>A" "" "likely benign" "" "0000566101" "0" "10" "19" "12767448" "12767448" "subst" "0.00418901" "02330" "MAN2B1_000089" "g.12767448C>T" "" "" "" "MAN2B1(NM_000528.3):c.1581G>A (p.R527=), MAN2B1(NM_000528.4):c.1581G>A (p.R527=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.12656634C>T" "" "benign" "" "0000566102" "0" "30" "19" "12767448" "12767448" "subst" "0.00418901" "01943" "MAN2B1_000089" "g.12767448C>T" "" "" "" "MAN2B1(NM_000528.3):c.1581G>A (p.R527=), MAN2B1(NM_000528.4):c.1581G>A (p.R527=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.12656634C>T" "" "likely benign" "" "0000566103" "0" "30" "19" "12767849" "12767849" "subst" "0.0254044" "01804" "MAN2B1_000064" "g.12767849C>A" "" "" "" "MAN2B1(NM_000528.3):c.1441G>T (p.(Ala481Ser)), MAN2B1(NM_000528.4):c.1441G>T (p.A481S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.12657035C>A" "" "likely benign" "" "0000566104" "0" "30" "19" "12767853" "12767853" "subst" "0.000553349" "01943" "MAN2B1_000065" "g.12767853C>A" "" "" "" "MAN2B1(NM_000528.3):c.1437G>T (p.A479=), MAN2B1(NM_000528.4):c.1437G>T (p.A479=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.12657039C>A" "" "likely benign" "" "0000566105" "0" "30" "19" "12767853" "12767853" "subst" "0.000553349" "02325" "MAN2B1_000065" "g.12767853C>A" "" "" "" "MAN2B1(NM_000528.3):c.1437G>T (p.A479=), MAN2B1(NM_000528.4):c.1437G>T (p.A479=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.12657039C>A" "" "likely benign" "" "0000566106" "0" "50" "19" "12768297" "12768297" "subst" "0" "02329" "MAN2B1_000090" "g.12768297T>G" "" "" "" "MAN2B1(NM_000528.3):c.1382A>C (p.Y461S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.12657483T>G" "" "VUS" "" "0000566107" "0" "50" "19" "12769055" "12769055" "subst" "0" "01943" "MAN2B1_000091" "g.12769055T>C" "" "" "" "MAN2B1(NM_000528.3):c.1213A>G (p.S405G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.12658241T>C" "" "VUS" "" "0000566108" "0" "30" "19" "12769059" "12769059" "subst" "6.90793E-5" "02330" "MAN2B1_000092" "g.12769059G>T" "" "" "" "MAN2B1(NM_000528.4):c.1209C>A (p.R403=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.12658245G>T" "" "likely benign" "" "0000566109" "0" "50" "19" "12769085" "12769085" "subst" "0" "01943" "MAN2B1_000093" "g.12769085G>A" "" "" "" "MAN2B1(NM_000528.3):c.1183C>T (p.R395W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.12658271G>A" "" "VUS" "" "0000566110" "0" "10" "19" "12769110" "12769110" "subst" "0.000775704" "02330" "MAN2B1_000094" "g.12769110C>T" "" "" "" "MAN2B1(NM_000528.3):c.1158G>A (p.Q386=), MAN2B1(NM_000528.4):c.1158G>A (p.Q386=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.12658296C>T" "" "benign" "" "0000566111" "0" "30" "19" "12769110" "12769110" "subst" "0.000775704" "01943" "MAN2B1_000094" "g.12769110C>T" "" "" "" "MAN2B1(NM_000528.3):c.1158G>A (p.Q386=), MAN2B1(NM_000528.4):c.1158G>A (p.Q386=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.12658296C>T" "" "likely benign" "" "0000566112" "0" "10" "19" "12769283" "12769283" "subst" "0.00371655" "02330" "MAN2B1_000095" "g.12769283G>C" "" "" "" "MAN2B1(NM_000528.3):c.1068C>G (p.P356=), MAN2B1(NM_000528.4):c.1068C>G (p.P356=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.12658469G>C" "" "benign" "" "0000566113" "0" "30" "19" "12769283" "12769283" "subst" "0.00371655" "01943" "MAN2B1_000095" "g.12769283G>C" "" "" "" "MAN2B1(NM_000528.3):c.1068C>G (p.P356=), MAN2B1(NM_000528.4):c.1068C>G (p.P356=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.12658469G>C" "" "likely benign" "" "0000566114" "0" "30" "19" "12769292" "12769292" "subst" "4.06171E-6" "01943" "MAN2B1_000096" "g.12769292G>A" "" "" "" "MAN2B1(NM_000528.3):c.1059C>T (p.Y353=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.12658478G>A" "" "likely benign" "" "0000566115" "0" "70" "19" "12772072" "12772072" "subst" "1.62463E-5" "01804" "MAN2B1_000097" "g.12772072A>C" "" "" "" "MAN2B1(NM_000528.3):c.1026+2T>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.12661258A>C" "" "likely pathogenic" "" "0000566116" "0" "10" "19" "12772165" "12772165" "subst" "0.000917759" "02330" "MAN2B1_000098" "g.12772165G>T" "" "" "" "MAN2B1(NM_000528.4):c.935C>A (p.T312N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.12661351G>T" "" "benign" "" "0000566117" "0" "10" "19" "12774533" "12774533" "subst" "0.0128581" "02330" "DHPS_000005" "g.12774533G>A" "" "" "" "MAN2B1(NM_000528.4):c.747C>T (p.T249=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.12663719G>A" "" "benign" "" "0000566118" "0" "30" "19" "12774537" "12774537" "subst" "0.00230696" "01943" "DHPS_000006" "g.12774537G>A" "" "" "" "MAN2B1(NM_000528.3):c.743C>T (p.P248L, p.(Pro248Leu)), MAN2B1(NM_000528.4):c.743C>T (p.P248L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.12663723G>A" "" "likely benign" "" "0000566119" "0" "30" "19" "12775684" "12775684" "subst" "1.22195E-5" "01943" "DHPS_000007" "g.12775684G>T" "" "" "" "MAN2B1(NM_000528.3):c.552C>A (p.G184=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.12664870G>T" "" "likely benign" "" "0000617354" "0" "30" "19" "12757550" "12757550" "subst" "0" "01943" "MAN2B1_000099" "g.12757550G>C" "" "" "" "MAN2B1(NM_000528.3):c.2924-4C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.12646736G>C" "" "likely benign" "" "0000617355" "0" "50" "19" "12760739" "12760739" "subst" "0" "01943" "MAN2B1_000100" "g.12760739A>G" "" "" "" "MAN2B1(NM_000528.3):c.2255T>C (p.I752T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.12649925A>G" "" "VUS" "" "0000617356" "0" "30" "19" "12763199" "12763199" "subst" "5.68496E-5" "01804" "MAN2B1_000101" "g.12763199G>A" "" "" "" "MAN2B1(NM_000528.3):c.1906C>T (p.P636S, p.(Pro636Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.12652385G>A" "" "likely benign" "" "0000617357" "0" "50" "19" "12766670" "12766670" "subst" "3.25497E-5" "01804" "MAN2B1_000102" "g.12766670G>T" "" "" "" "MAN2B1(NM_000528.3):c.1668C>A (p.(Asp556Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.12655856G>T" "" "VUS" "" "0000649895" "1" "70" "19" "12759960" "12759960" "subst" "6.50311E-5" "03575" "MAN2B1_000041" "g.12759960A>G" "3/2722 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 heterozygous, no homozygous; {DB:CLININrs80338681}" "Germline" "" "rs80338681" "0" "" "" "g.12649146A>G" "" "likely pathogenic" "" "0000649896" "1" "30" "19" "12767849" "12767849" "subst" "0.0254044" "03575" "MAN2B1_000064" "g.12767849C>A" "28/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "28 heterozygous, no homozygous; {DB:CLININrs34544747}" "Germline" "" "rs34544747" "0" "" "" "g.12657035C>A" "" "likely benign" "" "0000649897" "1" "50" "19" "12774537" "12774537" "subst" "0.00230696" "03575" "DHPS_000006" "g.12774537G>A" "30/2792 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 30 heterozygous, no homozygous; {DB:CLININrs117843968}" "Germline" "" "rs117843968" "0" "" "" "g.12663723G>A" "" "VUS" "" "0000658487" "0" "30" "19" "12768867" "12768867" "subst" "0" "01943" "MAN2B1_000103" "g.12768867C>T" "" "" "" "MAN2B1(NM_000528.3):c.1309+10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.12658053C>T" "" "likely benign" "" "0000658488" "0" "30" "19" "12768968" "12768968" "subst" "0.000273483" "02326" "MAN2B1_000104" "g.12768968G>A" "" "" "" "MAN2B1(NM_000528.4):c.1231-13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.12658154G>A" "" "likely benign" "" "0000681277" "0" "30" "19" "12758105" "12758105" "subst" "0.00279389" "02326" "MAN2B1_000078" "g.12758105C>G" "" "" "" "MAN2B1(NM_000528.3):c.2865G>C (p.T955=), MAN2B1(NM_000528.4):c.2865G>C (p.T955=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681278" "0" "30" "19" "12758121" "12758121" "subst" "0.000219298" "02326" "MAN2B1_000105" "g.12758121C>T" "" "" "" "MAN2B1(NM_000528.4):c.2849G>A (p.R950H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681279" "0" "30" "19" "12766564" "12766564" "subst" "1.22761E-5" "01943" "MAN2B1_000106" "g.12766564C>T" "" "" "" "MAN2B1(NM_000528.3):c.1774G>A (p.A592T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681280" "0" "50" "19" "12766623" "12766623" "subst" "0" "02330" "MAN2B1_000088" "g.12766623G>A" "" "" "" "MAN2B1(NM_000528.3):c.1715C>T (p.(Ala572Val)), MAN2B1(NM_000528.4):c.1715C>T (p.A572V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000681281" "0" "30" "19" "12768303" "12768303" "subst" "0" "01943" "MAN2B1_000107" "g.12768303T>C" "" "" "" "MAN2B1(NM_000528.3):c.1376A>G (p.N459S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000685276" "0" "90" "19" "12758406" "12758407" "del" "0" "00004" "MAN2B1_000108" "g.12758406_12758407del" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "c.2670_2671del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000692685" "0" "90" "19" "12766507" "12766507" "subst" "8.62366E-5" "01943" "MAN2B1_000109" "g.12766507C>G" "" "" "" "MAN2B1(NM_000528.3):c.1830+1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000692686" "0" "50" "19" "12769064" "12769064" "subst" "2.03178E-5" "01943" "MAN2B1_000039" "g.12769064C>T" "" "" "" "MAN2B1(NM_000528.3):c.1204G>A (p.E402K, p.(Glu402Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000692687" "0" "50" "19" "12772072" "12772072" "subst" "1.62463E-5" "01943" "MAN2B1_000097" "g.12772072A>C" "" "" "" "MAN2B1(NM_000528.3):c.1026+2T>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000692688" "0" "30" "19" "12772165" "12772165" "subst" "0.000917759" "02326" "MAN2B1_000098" "g.12772165G>T" "" "" "" "MAN2B1(NM_000528.4):c.935C>A (p.T312N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000701839" "3" "70" "19" "12763176" "12763176" "subst" "0" "00006" "MAN2B1_000110" "g.12763176C>G" "" "{PMID:Riazuddin 2017:27457812}" "" "c.1928+1C>G" "" "Germline" "" "" "0" "" "" "g.12652362C>G" "" "likely pathogenic (recessive)" "" "0000727127" "0" "30" "19" "12769166" "12769166" "subst" "0.0010965" "01804" "MAN2B1_000111" "g.12769166G>A" "" "" "" "MAN2B1(NM_000528.3):c.1110-8C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727128" "0" "90" "19" "12777451" "12777451" "subst" "1.36282E-5" "01943" "DHPS_000012" "g.12777451C>T" "" "" "" "MAN2B1(NM_000528.3):c.65G>A (p.W22*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000727129" "0" "30" "19" "12777497" "12777497" "subst" "0.000132772" "01943" "DHPS_000013" "g.12777497C>G" "" "" "" "MAN2B1(NM_000528.3):c.19G>C (p.A7P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000733235" "1" "70" "19" "12766507" "12766507" "subst" "8.62366E-5" "00000" "MAN2B1_000109" "g.12766507C>G" "" "{PMID:Stone 2017:28559085}" "" "IVS14+1G>C" "" "Germline" "" "" "0" "" "" "g.12655693C>G" "" "likely pathogenic" "" "0000733651" "2" "70" "19" "12776294" "12776294" "subst" "4.06154E-6" "00000" "MAN2B1_000112" "g.12776294G>A" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.12665480G>A" "" "likely pathogenic" "" "0000763191" "3" "90" "19" "12759989" "12759989" "dup" "0" "00006" "MAN2B1_000113" "g.12759989dup" "" "{PMID:Anazi 2017:27431290}" "" "2402dupG" "ACMG PVS1, PM2, PP1" "Germline" "" "" "0" "" "" "g.12649175dup" "" "pathogenic" "ACMG" "0000808672" "0" "50" "19" "12763199" "12763199" "subst" "5.68496E-5" "01943" "MAN2B1_000101" "g.12763199G>A" "" "" "" "MAN2B1(NM_000528.3):c.1906C>T (p.P636S, p.(Pro636Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000808673" "0" "30" "19" "12767769" "12767769" "subst" "0.00116202" "01943" "MAN2B1_000063" "g.12767769C>A" "" "" "" "MAN2B1(NM_000528.3):c.1521G>T (p.A507=), MAN2B1(NM_000528.4):c.1521G>T (p.A507=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808674" "0" "30" "19" "12768936" "12768936" "subst" "0" "01804" "MAN2B1_000114" "g.12768936G>C" "" "" "" "MAN2B1(NM_000528.3):c.1250C>G (p.(Ala417Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808675" "0" "50" "19" "12774217" "12774217" "subst" "2.84255E-5" "02325" "DHPS_000015" "g.12774217C>T" "" "" "" "MAN2B1(NM_000528.4):c.823G>A (p.D275N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000808676" "0" "30" "19" "12776626" "12776626" "subst" "4.07375E-6" "01943" "DHPS_000016" "g.12776626A>G" "" "" "" "MAN2B1(NM_000528.3):c.160-7T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808677" "0" "30" "19" "12777468" "12777468" "subst" "2.06942E-5" "01943" "DHPS_000017" "g.12777468C>T" "" "" "" "MAN2B1(NM_000528.3):c.48G>A (p.L16=), MAN2B1(NM_000528.4):c.48G>A (p.L16=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000817789" "3" "70" "19" "12775641" "12775641" "subst" "0" "00006" "MAN2B1_000115" "g.12775641C>A" "" "{PMID:Hu 2019:29302074}" "" "" "" "Germline" "" "" "0" "" "" "g.12664827C>A" "" "likely pathogenic (recessive)" "ACMG" "0000820025" "1" "70" "19" "12760746" "12760746" "subst" "0.000235523" "00000" "MAN2B1_000037" "g.12760746G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "MAN2B1, variant 1: c.2248C>T/p.R750W, variant 2: c.2248C>T/p.R750W" "solved, homozygous" "Germline" "yes" "" "0" "" "" "g.12649932G>A" "" "likely pathogenic" "" "0000855439" "0" "30" "19" "12758383" "12758383" "subst" "0" "02326" "MAN2B1_000116" "g.12758383G>A" "" "" "" "MAN2B1(NM_000528.4):c.2694C>T (p.P898=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855440" "0" "30" "19" "12759091" "12759091" "subst" "0.00277102" "02326" "MAN2B1_000053" "g.12759091G>C" "" "" "" "MAN2B1(NM_000528.4):c.2562C>G (p.A854=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865865" "0" "30" "19" "12760240" "12760240" "subst" "4.95E-5" "01943" "MAN2B1_000117" "g.12760240C>T" "" "" "" "MAN2B1(NM_000528.3):c.2270G>A (p.R757Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865866" "0" "30" "19" "12767461" "12767461" "subst" "0" "01943" "MAN2B1_000118" "g.12767461T>G" "" "" "" "MAN2B1(NM_000528.3):c.1568A>C (p.N523T, p.(Asn523Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865867" "0" "30" "19" "12769162" "12769162" "subst" "3.24876E-5" "01943" "MAN2B1_000119" "g.12769162C>T" "" "" "" "MAN2B1(NM_000528.3):c.1110-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865868" "0" "30" "19" "12774251" "12774251" "subst" "9.34526E-5" "01943" "DHPS_000019" "g.12774251C>T" "" "" "" "MAN2B1(NM_000528.3):c.789G>A (p.P263=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865869" "0" "30" "19" "12774537" "12774537" "subst" "0.00230696" "01804" "DHPS_000006" "g.12774537G>A" "" "" "" "MAN2B1(NM_000528.3):c.743C>T (p.P248L, p.(Pro248Leu)), MAN2B1(NM_000528.4):c.743C>T (p.P248L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865870" "0" "50" "19" "12775781" "12775781" "subst" "0.000187237" "01804" "DHPS_000020" "g.12775781T>C" "" "" "" "MAN2B1(NM_000528.3):c.455A>G (p.(Asn152Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000894785" "0" "30" "19" "12760922" "12760922" "subst" "0.000105588" "01804" "MAN2B1_000120" "g.12760922C>T" "" "" "" "MAN2B1(NM_000528.3):c.2161G>A (p.(Val721Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894786" "0" "50" "19" "12760979" "12760979" "subst" "2.03094E-5" "01804" "MAN2B1_000121" "g.12760979G>A" "" "" "" "MAN2B1(NM_000528.3):c.2104C>T (p.(Arg702Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000894787" "0" "10" "19" "12766594" "12766594" "subst" "0.00176954" "02326" "MAN2B1_000062" "g.12766594G>C" "" "" "" "MAN2B1(NM_000528.3):c.1744C>G (p.Q582E), MAN2B1(NM_000528.4):c.1744C>G (p.Q582E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000915127" "0" "50" "19" "12767461" "12767461" "subst" "0" "01804" "MAN2B1_000118" "g.12767461T>G" "" "" "" "MAN2B1(NM_000528.3):c.1568A>C (p.N523T, p.(Asn523Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000915128" "0" "30" "19" "12774536" "12774536" "subst" "8.26016E-5" "02326" "DHPS_000021" "g.12774536C>T" "" "" "" "MAN2B1(NM_000528.4):c.744G>A (p.P248=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926809" "0" "30" "19" "12758311" "12758311" "subst" "9.35667E-5" "02326" "MAN2B1_000122" "g.12758311G>A" "" "" "" "MAN2B1(NM_000528.4):c.2766C>T (p.A922=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926810" "0" "30" "19" "12774196" "12774196" "subst" "0.00258264" "02326" "MAN2B1_000072" "g.12774196G>A" "" "" "" "MAN2B1(NM_000528.3):c.844C>T (p.P282S, p.(Pro282Ser)), MAN2B1(NM_000528.4):c.844C>T (p.P282S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926811" "0" "30" "19" "12774261" "12774261" "subst" "1.21921E-5" "02326" "DHPS_000022" "g.12774261C>A" "" "" "" "MAN2B1(NM_000528.4):c.779G>T (p.G260V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926812" "0" "30" "19" "12777468" "12777468" "subst" "2.06942E-5" "02326" "DHPS_000017" "g.12777468C>T" "" "" "" "MAN2B1(NM_000528.3):c.48G>A (p.L16=), MAN2B1(NM_000528.4):c.48G>A (p.L16=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926813" "0" "30" "19" "12780204" "12780204" "subst" "0.0159673" "01804" "DHPS_000023" "g.12780204T>C" "" "" "" "WDR83OS(NM_016145.3):c.14A>G (p.(Asn5Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930998" "0" "30" "19" "12763267" "12763267" "subst" "0.000382157" "02326" "MAN2B1_000123" "g.12763267C>T" "" "" "" "MAN2B1(NM_000528.4):c.1838G>A (p.R613Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930999" "0" "70" "19" "12776514" "12776514" "subst" "0" "02326" "DHPS_000024" "g.12776514C>G" "" "" "" "MAN2B1(NM_000528.4):c.262+3G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000939875" "1" "90" "19" "12758095" "12758110" "del" "0" "00006" "MAN2B1_000124" "g.12758095_12758110del" "" "{PMID:Nambot 2018:29095811}" "" "" "" "Germline" "" "" "0" "" "" "g.12647281_12647296del" "" "pathogenic (recessive)" "" "0000939905" "2" "90" "19" "12776184" "12776184" "subst" "1.66012E-5" "00006" "MAN2B1_000125" "g.12776184G>A" "" "{PMID:Nambot 2018:29095811}" "" "" "" "Germline" "" "" "0" "" "" "g.12665370G>A" "" "pathogenic (recessive)" "" "0000951216" "0" "30" "19" "12767853" "12767853" "subst" "0.000553349" "02326" "MAN2B1_000065" "g.12767853C>A" "" "" "" "MAN2B1(NM_000528.3):c.1437G>T (p.A479=), MAN2B1(NM_000528.4):c.1437G>T (p.A479=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000969557" "0" "30" "19" "12774537" "12774537" "subst" "0.00230696" "02326" "DHPS_000006" "g.12774537G>A" "" "" "" "MAN2B1(NM_000528.3):c.743C>T (p.P248L, p.(Pro248Leu)), MAN2B1(NM_000528.4):c.743C>T (p.P248L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983201" "0" "50" "19" "12758367" "12758367" "subst" "9.41288E-5" "01804" "MAN2B1_000126" "g.12758367T>A" "" "" "" "MAN2B1(NM_000528.4):c.2710A>T (p.(Thr904Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983202" "0" "70" "19" "12759125" "12759125" "del" "0" "01804" "MAN2B1_000127" "g.12759125del" "" "" "" "MAN2B1(NM_000528.4):c.2528del (p.(Leu843Argfs*81))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001004354" "0" "30" "19" "12757477" "12757477" "subst" "0.000844622" "01804" "MAN2B1_000075" "g.12757477C>T" "" "" "" "MAN2B1(NM_000528.3):c.2993G>A (p.(Arg998His)), MAN2B1(NM_000528.4):c.2993G>A (p.R998H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004355" "0" "30" "19" "12760724" "12760724" "dup" "0" "01804" "MAN2B1_000083" "g.12760724dup" "" "" "" "MAN2B1(NM_000528.3):c.2267+8dupG (p.?), MAN2B1(NM_000528.4):c.2267+8dupG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004356" "0" "50" "19" "12766551" "12766551" "subst" "1.63698E-5" "01804" "MAN2B1_000128" "g.12766551A>C" "" "" "" "MAN2B1(NM_000528.3):c.1787T>G (p.(Ile596Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001004357" "0" "50" "19" "12774531" "12774531" "subst" "4.15856E-5" "01804" "DHPS_000027" "g.12774531G>A" "" "" "" "MAN2B1(NM_000528.3):c.749C>T (p.(Ala250Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001012434" "1" "30" "19" "12774196" "12774196" "subst" "0.00258264" "00006" "MAN2B1_000072" "g.12774196G>A" "" "{PMID:Fernandez-Marmiesse 2014:24767253}" "" "" "" "Germline" "" "" "0" "" "" "g.12663382G>A" "" "likely benign" "" "0001042609" "0" "90" "19" "12760746" "12760746" "subst" "0.000235523" "02327" "MAN2B1_000037" "g.12760746G>A" "" "" "" "MAN2B1(NM_000528.4):c.2248C>T (p.(Arg750Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001042610" "0" "30" "19" "12763072" "12763072" "subst" "4.06055E-6" "01804" "MAN2B1_000129" "g.12763072A>G" "" "" "" "MAN2B1(NM_000528.4):c.1941T>C (p.(Ser647=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001042611" "0" "90" "19" "12763084" "12763084" "subst" "0" "01804" "MAN2B1_000130" "g.12763084C>T" "" "" "" "MAN2B1(NM_000528.4):c.1929G>A (p.(Trp643*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001042612" "0" "30" "19" "12763167" "12763167" "subst" "0.000174614" "01804" "MAN2B1_000131" "g.12763167C>G" "" "" "" "MAN2B1(NM_000528.4):c.1928+10G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001042613" "0" "50" "19" "12763261" "12763261" "subst" "1.21916E-5" "01804" "MAN2B1_000132" "g.12763261G>A" "" "" "" "MAN2B1(NM_000528.4):c.1844C>T (p.(Thr615Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042614" "0" "10" "19" "12774561" "12774561" "subst" "0.000707651" "01804" "DHPS_000028" "g.12774561C>T" "" "" "" "MAN2B1(NM_000528.4):c.719G>A (p.(Arg240Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001042615" "0" "50" "19" "12776600" "12776600" "subst" "2.03176E-5" "01804" "DHPS_000029" "g.12776600G>A" "" "" "" "MAN2B1(NM_000528.4):c.179C>T (p.(Pro60Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046713" "0" "90" "19" "12758083" "12758083" "del" "0" "02327" "MAN2B1_000133" "g.12758083del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001046714" "0" "50" "19" "12769064" "12769064" "subst" "2.03178E-5" "02327" "MAN2B1_000039" "g.12769064C>T" "" "" "" "MAN2B1(NM_000528.3):c.1204G>A (p.E402K, p.(Glu402Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046715" "0" "90" "19" "12772072" "12772072" "subst" "1.62463E-5" "02327" "MAN2B1_000097" "g.12772072A>C" "" "" "" "MAN2B1(NM_000528.3):c.1026+2T>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001056494" "0" "50" "19" "12758376" "12758376" "subst" "0.000184485" "01804" "MAN2B1_000134" "g.12758376G>T" "" "" "" "MAN2B1(NM_000528.4):c.2701C>A (p.(His901Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001056495" "0" "90" "19" "12760746" "12760746" "subst" "0.000235523" "01804" "MAN2B1_000037" "g.12760746G>A" "" "" "" "MAN2B1(NM_000528.4):c.2248C>T (p.(Arg750Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001056496" "0" "50" "19" "12760978" "12760978" "subst" "0" "01804" "MAN2B1_000135" "g.12760978C>A" "" "" "" "MAN2B1(NM_000528.4):c.2105G>T (p.(Arg702Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001056497" "0" "90" "19" "12767446" "12767446" "dup" "0" "01804" "MAN2B1_000136" "g.12767446dup" "" "" "" "MAN2B1(NM_000528.4):c.1583dup (p.(Pro529Alafs*82))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001056498" "0" "50" "19" "12775720" "12775720" "subst" "2.43942E-5" "01804" "DHPS_000033" "g.12775720C>T" "" "" "" "MAN2B1(NM_000528.4):c.516G>A (p.(Met172Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001058864" "0" "90" "19" "12759960" "12759960" "subst" "6.50311E-5" "00006" "MAN2B1_000041" "g.12759960A>G" "" "{PMID:Retterer 2016:26633542}" "" "" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.12649146A>G" "" "pathogenic" "" "0001058865" "0" "90" "19" "12769065" "12769065" "subst" "0" "00006" "MAN2B1_000137" "g.12769065G>C" "" "{PMID:Retterer 2016:26633542}" "" "" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.12658251G>C" "" "pathogenic" "" "0001058866" "0" "70" "19" "12776231" "12776231" "subst" "4.07448E-6" "00006" "MAN2B1_000138" "g.12776231A>G" "" "{PMID:Retterer 2016:26633542}" "" "" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.12665417A>G" "" "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 MAN2B1 ## Count = 203 "{{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}}" "0000252456" "00011720" "70" "262" "2" "262" "2" "c.262+2T>G" "r.spl?" "p.?" "" "0000279556" "00011720" "10" "1010" "0" "1010" "0" "c.1010G>A" "r.(?)" "p.(Arg337Gln)" "" "0000279557" "00011720" "10" "1238" "0" "1238" "0" "c.1238A>G" "r.(?)" "p.(Asn413Ser)" "" "0000279558" "00011720" "10" "1437" "0" "1437" "0" "c.1437G>T" "r.(?)" "p.(Ala479=)" "" "0000279559" "00011720" "10" "1441" "0" "1441" "0" "c.1441G>T" "r.(?)" "p.(Ala481Ser)" "" "0000279560" "00011720" "10" "2165" "20" "2165" "20" "c.2165+20A>G" "r.(=)" "p.(=)" "" "0000279561" "00011720" "10" "2221" "0" "2221" "0" "c.2221G>A" "r.(?)" "p.(Gly741Arg)" "" "0000279563" "00011720" "10" "2310" "0" "2310" "0" "c.2310C>T" "r.(?)" "p.(Pro770=)" "" "0000279564" "00011720" "90" "231" "0" "231" "0" "c.231G>A" "r.(?)" "p.(Trp77Ter)" "" "0000279565" "00011720" "70" "2398" "0" "2398" "0" "c.2398G>C" "r.(?)" "p.(Gly800Arg)" "" "0000279566" "00011720" "50" "2404" "0" "2404" "0" "c.2404A>G" "r.(?)" "p.(Ser802Gly)" "" "0000279567" "00011720" "10" "2436" "17" "2436" "17" "c.2436+17C>T" "r.(=)" "p.(=)" "" "0000279568" "00011720" "10" "2562" "0" "2562" "0" "c.2562C>G" "r.(?)" "p.(Ala854=)" "" "0000279569" "00011720" "10" "619" "0" "619" "0" "c.619C>T" "r.(?)" "p.(Leu207=)" "" "0000279570" "00011720" "10" "748" "0" "748" "0" "c.748G>T" "r.(?)" "p.(Ala250Ser)" "" "0000279571" "00011720" "10" "832" "0" "832" "0" "c.832C>G" "r.(?)" "p.(Leu278Val)" "" "0000279572" "00011720" "10" "935" "0" "935" "0" "c.935C>T" "r.(?)" "p.(Thr312Ile)" "" "0000282367" "00011720" "10" "1010" "0" "1010" "0" "c.1010G>A" "r.(?)" "p.(Arg337Gln)" "" "0000282368" "00011720" "10" "832" "0" "832" "0" "c.832C>G" "r.(?)" "p.(Leu278Val)" "" "0000282369" "00011720" "10" "935" "0" "935" "0" "c.935C>T" "r.(?)" "p.(Thr312Ile)" "" "0000286104" "00011720" "30" "1521" "0" "1521" "0" "c.1521G>T" "r.(?)" "p.(Ala507=)" "" "0000291420" "00011720" "30" "1026" "8" "1026" "8" "c.1026+8C>T" "r.(=)" "p.(=)" "" "0000291421" "00011720" "10" "1744" "0" "1744" "0" "c.1744C>G" "r.(?)" "p.(Gln582Glu)" "" "0000291422" "00011720" "30" "2260" "0" "2260" "0" "c.2260G>A" "r.(?)" "p.(Glu754Lys)" "" "0000291423" "00011720" "30" "2670" "0" "2670" "0" "c.2670A>G" "r.(?)" "p.(Ser890=)" "" "0000291424" "00011720" "50" "376" "0" "376" "0" "c.376C>T" "r.(?)" "p.(Arg126Cys)" "" "0000291425" "00011720" "30" "844" "0" "844" "0" "c.844C>T" "r.(?)" "p.(Pro282Ser)" "" "0000326216" "00011720" "50" "2669" "0" "2669" "0" "c.2669C>G" "r.(?)" "p.(Ser890Ter)" "" "0000326217" "00011720" "50" "1204" "0" "1204" "0" "c.1204G>A" "r.(?)" "p.(Glu402Lys)" "" "0000326218" "00011720" "50" "1154" "0" "1154" "0" "c.1154A>G" "r.(?)" "p.(His385Arg)" "" "0000326219" "00011720" "30" "844" "0" "844" "0" "c.844C>T" "r.(?)" "p.(Pro282Ser)" "" "0000437558" "00011720" "90" "1664" "0" "1664" "0" "c.1664C>G" "r.(?)" "p.(Ser555*)" "" "0000437559" "00011720" "90" "763" "2" "763" "8" "c.763+2_763+8del" "r.spl" "p.?" "" "0000486870" "00011720" "95" "164" "0" "164" "0" "c.164G>T" "r.(?)" "p.(Cys55Phe)" "?" "0000486871" "00011720" "95" "215" "0" "215" "0" "c.215A>T" "r.(?)" "p.(His72Leu)" "?" "0000486872" "00011720" "95" "222" "0" "222" "0" "c.222C>A" "r.(?)" "p.(Asp74Glu)" "?" "0000486873" "00011720" "95" "283" "0" "283" "0" "c.283G>C" "r.(?)" "p.(Ala95Pro)" "?" "0000486874" "00011720" "95" "295" "0" "295" "0" "c.295T>C" "r.(?)" "p.(Tyr99His)" "?" "0000486875" "00011720" "95" "475" "0" "475" "0" "c.475G>A" "r.(?)" "p.(Asp159Asn)" "?" "0000486876" "00011720" "95" "590" "0" "590" "0" "c.590C>G" "r.(?)" "p.(Pro197Arg)" "?" "0000486877" "00011720" "95" "598" "0" "598" "0" "c.598C>A" "r.(?)" "p.(His200Asn)" "?" "0000486878" "00011720" "95" "599" "0" "599" "0" "c.599A>T" "r.(?)" "p.(His200Leu)" "?" "0000486879" "00011720" "95" "599" "0" "599" "0" "c.599A>T" "r.(?)" "p.(His200Leu)" "?" "0000486880" "00011720" "95" "605" "0" "605" "0" "c.605G>C" "r.(?)" "p.(Arg202Pro)" "?" "0000486881" "00011720" "95" "685" "0" "685" "0" "c.685C>T" "r.(?)" "p.(Arg229Trp)" "?" "0000486882" "00011720" "95" "788" "0" "788" "0" "c.788C>T" "r.(?)" "p.(Pro263Leu)" "?" "0000486883" "00011720" "95" "953" "0" "953" "0" "c.953C>T" "r.(?)" "p.(Ser318Leu)" "?" "0000486884" "00011720" "95" "1055" "0" "1055" "0" "c.1055T>C" "r.(?)" "p.(Leu352Pro)" "?" "0000486885" "00011720" "95" "1063" "0" "1063" "0" "c.1063A>C" "r.(?)" "p.(Thr355Pro)" "?" "0000486886" "00011720" "95" "1067" "0" "1067" "0" "c.1067C>G" "r.(?)" "p.(Pro356Arg)" "?" "0000486887" "00011720" "95" "1136" "0" "1136" "0" "c.1136C>T" "r.(?)" "p.(Pro379Leu)" "?" "0000486888" "00011720" "95" "1168" "0" "1168" "0" "c.1168G>T" "r.(?)" "p.(Gly390Cys)" "?" "0000486889" "00011720" "95" "1204" "0" "1204" "0" "c.1204G>A" "r.(?)" "p.(Glu402Lys)" "?" "0000486890" "00011720" "95" "1259" "0" "1259" "0" "c.1259G>T" "r.(?)" "p.(Gly420Val)" "?" "0000486891" "00011720" "95" "1333" "0" "1333" "0" "c.1333C>T" "r.(?)" "p.(His445Tyr)" "?" "0000486892" "00011720" "95" "1351" "0" "1351" "0" "c.1351G>T" "r.(?)" "p.(Gly451Cys)" "?" "0000486893" "00011720" "95" "1358" "0" "1358" "0" "c.1358C>A" "r.(?)" "p.(Ser453Tyr)" "?" "0000486894" "00011720" "95" "1358" "0" "1358" "0" "c.1358C>T" "r.(?)" "p.(Ser453Phe)" "?" "0000486895" "00011720" "95" "1370" "0" "1370" "0" "c.1370T>A" "r.(?)" "p.(Val457Glu)" "?" "0000486896" "00011720" "95" "1501" "0" "1501" "0" "c.1501T>A" "r.(?)" "p.(Cys501Ser)" "?" "0000486897" "00011720" "95" "1694" "0" "1694" "0" "c.1694T>C" "r.(?)" "p.(Leu565Pro)" "?" "0000486898" "00011720" "95" "2140" "0" "2140" "0" "c.2140T>C" "r.(?)" "p.(Trp714Arg)" "?" "0000486899" "00011720" "95" "2234" "0" "2234" "0" "c.2234C>G" "r.(?)" "p.(Thr745Arg)" "?" "0000486900" "00011720" "95" "2248" "0" "2248" "0" "c.2248C>T" "r.(?)" "p.(Arg750Trp)" "?" "0000486901" "00011720" "95" "2398" "0" "2398" "0" "c.2398G>C" "r.(?)" "p.(Gly800Arg)" "?" "0000486902" "00011720" "95" "2398" "0" "2398" "0" "c.2398G>T" "r.(?)" "p.(Gly800Trp)" "?" "0000486903" "00011720" "95" "2402" "0" "2402" "0" "c.2402G>A" "r.(?)" "p.(Gly801Asp)" "?" "0000486904" "00011720" "95" "2426" "0" "2426" "0" "c.2426T>C" "r.(?)" "p.(Leu809Pro)" "?" "0000486905" "00011720" "95" "2671" "0" "2671" "0" "c.2671G>A" "r.(?)" "p.(Gly891Arg)" "?" "0000486906" "00011720" "95" "2675" "0" "2675" "0" "c.2675T>C" "r.(?)" "p.(Leu892Pro)" "?" "0000486907" "00011720" "95" "2746" "0" "2746" "0" "c.2746C>T" "r.(?)" "p.(Arg916Cys)" "?" "0000486908" "00011720" "95" "2747" "0" "2747" "0" "c.2747G>A" "r.(?)" "p.(Arg916His)" "?" "0000486909" "00011720" "95" "2849" "0" "2849" "0" "c.2849G>C" "r.(?)" "p.(Arg950Pro)" "?" "0000486910" "00011720" "95" "2867" "0" "2867" "0" "c.2867T>G" "r.(?)" "p.(Leu956Arg)" "?" "0000486911" "00011720" "95" "2999" "0" "2999" "0" "c.2999T>C" "r.(?)" "p.(Phe1000Ser)" "?" "0000486912" "00011720" "95" "215" "0" "215" "0" "c.215A>T" "r.215a>u" "p.His72Leu" "2" "0000486913" "00011720" "95" "215" "0" "215" "0" "c.215A>T" "r.215a>u" "p.His72Leu" "2" "0000486914" "00011720" "95" "215" "0" "215" "0" "c.215A>T" "r.215a>u" "p.His72Leu" "2" "0000486915" "00011720" "95" "215" "0" "215" "0" "c.215A>T" "r.215a>u" "p.His72Leu" "2" "0000486916" "00011720" "95" "215" "0" "215" "0" "c.215A>T" "r.215a>u" "p.His72Leu" "2" "0000486917" "00011720" "15" "935" "0" "935" "0" "c.935C>T" "r.935c>u" "p.Thr312Ile" "7" "0000486918" "00011720" "15" "935" "0" "935" "0" "c.935C>T" "r.935c>u" "p.Thr312Ile" "7" "0000486919" "00011720" "15" "935" "0" "935" "0" "c.935C>T" "r.935c>u" "p.Thr312Ile" "7" "0000486920" "00011720" "15" "935" "0" "935" "0" "c.935C>T" "r.935c>u" "p.Thr312Ile" "7" "0000486921" "00011720" "95" "935" "0" "935" "0" "c.935C>T" "r.935c>u" "p.Thr312Ile" "7" "0000486922" "00011720" "15" "935" "0" "935" "0" "c.935C>T" "r.935c>u" "p.Thr312Ile" "7" "0000486923" "00011720" "15" "935" "0" "935" "0" "c.935C>T" "r.(=)" "p.(Thr312Ile)" "7" "0000566083" "00011720" "10" "3052" "0" "3052" "0" "c.*16C>G" "r.(=)" "p.(=)" "" "0000566085" "00011720" "10" "2993" "0" "2993" "0" "c.2993G>A" "r.(?)" "p.(Arg998His)" "" "0000566088" "00011720" "10" "2865" "0" "2865" "0" "c.2865G>C" "r.(?)" "p.(Thr955=)" "" "0000566089" "00011720" "30" "2865" "0" "2865" "0" "c.2865G>C" "r.(?)" "p.(Thr955=)" "" "0000566090" "00011720" "30" "2821" "-4" "2821" "-4" "c.2821-4G>A" "r.spl?" "p.?" "" "0000566091" "00011720" "30" "2670" "0" "2670" "0" "c.2670A>G" "r.(?)" "p.(Ser890=)" "" "0000566092" "00011720" "30" "2469" "0" "2469" "0" "c.2469C>T" "r.(?)" "p.(Arg823=)" "" "0000566093" "00011720" "30" "2355" "20" "2355" "20" "c.2355+20C>T" "r.(=)" "p.(=)" "" "0000566094" "00011720" "10" "2267" "3" "2267" "3" "c.2267+3G>C" "r.spl?" "p.?" "" "0000566095" "00011720" "10" "2267" "8" "2267" "8" "c.2267+8dup" "r.(=)" "p.(=)" "" "0000566096" "00011720" "30" "2047" "-4" "2047" "-4" "c.2047-4G>A" "r.spl?" "p.?" "" "0000566098" "00011720" "30" "1961" "0" "1961" "0" "c.1961A>G" "r.(?)" "p.(Asp654Gly)" "" "0000566099" "00011720" "30" "1822" "0" "1822" "0" "c.1822G>A" "r.(?)" "p.(Glu608Lys)" "" "0000566100" "00011720" "30" "1715" "0" "1715" "0" "c.1715C>T" "r.(?)" "p.(Ala572Val)" "" "0000566101" "00011720" "10" "1581" "0" "1581" "0" "c.1581G>A" "r.(?)" "p.(Arg527=)" "" "0000566102" "00011720" "30" "1581" "0" "1581" "0" "c.1581G>A" "r.(?)" "p.(Arg527=)" "" "0000566103" "00011720" "30" "1441" "0" "1441" "0" "c.1441G>T" "r.(?)" "p.(Ala481Ser)" "" "0000566104" "00011720" "30" "1437" "0" "1437" "0" "c.1437G>T" "r.(?)" "p.(Ala479=)" "" "0000566105" "00011720" "30" "1437" "0" "1437" "0" "c.1437G>T" "r.(?)" "p.(Ala479=)" "" "0000566106" "00011720" "50" "1382" "0" "1382" "0" "c.1382A>C" "r.(?)" "p.(Tyr461Ser)" "" "0000566107" "00011720" "50" "1213" "0" "1213" "0" "c.1213A>G" "r.(?)" "p.(Ser405Gly)" "" "0000566108" "00011720" "30" "1209" "0" "1209" "0" "c.1209C>A" "r.(?)" "p.(Arg403=)" "" "0000566109" "00011720" "50" "1183" "0" "1183" "0" "c.1183C>T" "r.(?)" "p.(Arg395Trp)" "" "0000566110" "00011720" "10" "1158" "0" "1158" "0" "c.1158G>A" "r.(?)" "p.(Gln386=)" "" "0000566111" "00011720" "30" "1158" "0" "1158" "0" "c.1158G>A" "r.(?)" "p.(Gln386=)" "" "0000566112" "00011720" "10" "1068" "0" "1068" "0" "c.1068C>G" "r.(?)" "p.(Pro356=)" "" "0000566113" "00011720" "30" "1068" "0" "1068" "0" "c.1068C>G" "r.(?)" "p.(Pro356=)" "" "0000566114" "00011720" "30" "1059" "0" "1059" "0" "c.1059C>T" "r.(?)" "p.(Tyr353=)" "" "0000566115" "00011720" "70" "1026" "2" "1026" "2" "c.1026+2T>G" "r.spl?" "p.?" "" "0000566116" "00011720" "10" "935" "0" "935" "0" "c.935C>A" "r.(?)" "p.(Thr312Asn)" "" "0000566117" "00011720" "10" "747" "0" "747" "0" "c.747C>T" "r.(?)" "p.(Thr249=)" "" "0000566118" "00011720" "30" "743" "0" "743" "0" "c.743C>T" "r.(?)" "p.(Pro248Leu)" "" "0000566119" "00011720" "30" "552" "0" "552" "0" "c.552C>A" "r.(?)" "p.(Gly184=)" "" "0000617354" "00011720" "30" "2924" "-4" "2924" "-4" "c.2924-4C>G" "r.spl?" "p.?" "" "0000617355" "00011720" "50" "2255" "0" "2255" "0" "c.2255T>C" "r.(?)" "p.(Ile752Thr)" "" "0000617356" "00011720" "30" "1906" "0" "1906" "0" "c.1906C>T" "r.(?)" "p.(Pro636Ser)" "" "0000617357" "00011720" "50" "1668" "0" "1668" "0" "c.1668C>A" "r.(?)" "p.(Asp556Glu)" "" "0000649895" "00011720" "70" "2426" "0" "2426" "0" "c.2426T>C" "r.(?)" "p.(Leu809Pro)" "" "0000649896" "00011720" "30" "1441" "0" "1441" "0" "c.1441G>T" "r.(?)" "p.(Ala481Ser)" "" "0000649897" "00011720" "50" "743" "0" "743" "0" "c.743C>T" "r.(?)" "p.(Pro248Leu)" "" "0000658487" "00011720" "30" "1309" "10" "1309" "10" "c.1309+10G>A" "r.(=)" "p.(=)" "" "0000658488" "00011720" "30" "1231" "-13" "1231" "-13" "c.1231-13C>T" "r.(=)" "p.(=)" "" "0000681277" "00011720" "30" "2865" "0" "2865" "0" "c.2865G>C" "r.(?)" "p.(Thr955=)" "" "0000681278" "00011720" "30" "2849" "0" "2849" "0" "c.2849G>A" "r.(?)" "p.(Arg950His)" "" "0000681279" "00011720" "30" "1774" "0" "1774" "0" "c.1774G>A" "r.(?)" "p.(Ala592Thr)" "" "0000681280" "00011720" "50" "1715" "0" "1715" "0" "c.1715C>T" "r.(?)" "p.(Ala572Val)" "" "0000681281" "00011720" "30" "1376" "0" "1376" "0" "c.1376A>G" "r.(?)" "p.(Asn459Ser)" "" "0000685276" "00011720" "90" "2670" "0" "2671" "0" "c.2670_2671del" "r.(?)" "p.(Gly891Alafs*39)" "" "0000692685" "00011720" "90" "1830" "1" "1830" "1" "c.1830+1G>C" "r.spl?" "p.?" "" "0000692686" "00011720" "50" "1204" "0" "1204" "0" "c.1204G>A" "r.(?)" "p.(Glu402Lys)" "" "0000692687" "00011720" "50" "1026" "2" "1026" "2" "c.1026+2T>G" "r.spl?" "p.?" "" "0000692688" "00011720" "30" "935" "0" "935" "0" "c.935C>A" "r.(?)" "p.(Thr312Asn)" "" "0000701839" "00011720" "70" "1928" "1" "1928" "1" "c.1928+1G>C" "r.spl" "p.(Phe642Phefs*2)" "" "0000727127" "00011720" "30" "1110" "-8" "1110" "-8" "c.1110-8C>T" "r.(=)" "p.(=)" "" "0000727128" "00011720" "90" "65" "0" "65" "0" "c.65G>A" "r.(?)" "p.(Trp22*)" "" "0000727129" "00011720" "30" "19" "0" "19" "0" "c.19G>C" "r.(?)" "p.(Ala7Pro)" "" "0000733235" "00011720" "70" "1830" "1" "1830" "1" "c.1830+1G>C" "r.spl" "p.?" "" "0000733651" "00011720" "70" "308" "0" "308" "0" "c.308C>T" "r.(?)" "p.(Ser103Leu)" "" "0000763191" "00011720" "90" "2402" "0" "2402" "0" "c.2402dup" "r.(?)" "p.(Ser802Glnfs*129)" "" "0000808672" "00011720" "50" "1906" "0" "1906" "0" "c.1906C>T" "r.(?)" "p.(Pro636Ser)" "" "0000808673" "00011720" "30" "1521" "0" "1521" "0" "c.1521G>T" "r.(?)" "p.(Ala507=)" "" "0000808674" "00011720" "30" "1250" "0" "1250" "0" "c.1250C>G" "r.(?)" "p.(Ala417Gly)" "" "0000808675" "00011720" "50" "823" "0" "823" "0" "c.823G>A" "r.(?)" "p.(Asp275Asn)" "" "0000808676" "00011720" "30" "160" "-7" "160" "-7" "c.160-7T>C" "r.(=)" "p.(=)" "" "0000808677" "00011720" "30" "48" "0" "48" "0" "c.48G>A" "r.(?)" "p.(Leu16=)" "" "0000817789" "00011720" "70" "595" "0" "595" "0" "c.595G>T" "r.(?)" "p.(Gly199Cys)" "" "0000820025" "00011720" "70" "2248" "0" "2248" "0" "c.2248C>T" "r.(?)" "p.(Arg750Trp)" "" "0000855439" "00011720" "30" "2694" "0" "2694" "0" "c.2694C>T" "r.(?)" "p.(Pro898=)" "" "0000855440" "00011720" "30" "2562" "0" "2562" "0" "c.2562C>G" "r.(?)" "p.(Ala854=)" "" "0000865865" "00011720" "30" "2270" "0" "2270" "0" "c.2270G>A" "r.(?)" "p.(Arg757Gln)" "" "0000865866" "00011720" "30" "1568" "0" "1568" "0" "c.1568A>C" "r.(?)" "p.(Asn523Thr)" "" "0000865867" "00011720" "30" "1110" "-4" "1110" "-4" "c.1110-4G>A" "r.spl?" "p.?" "" "0000865868" "00011720" "30" "789" "0" "789" "0" "c.789G>A" "r.(?)" "p.(Pro263=)" "" "0000865869" "00011720" "30" "743" "0" "743" "0" "c.743C>T" "r.(?)" "p.(Pro248Leu)" "" "0000865870" "00011720" "50" "455" "0" "455" "0" "c.455A>G" "r.(?)" "p.(Asn152Ser)" "" "0000894785" "00011720" "30" "2161" "0" "2161" "0" "c.2161G>A" "r.(?)" "p.(Val721Met)" "" "0000894786" "00011720" "50" "2104" "0" "2104" "0" "c.2104C>T" "r.(?)" "p.(Arg702Cys)" "" "0000894787" "00011720" "10" "1744" "0" "1744" "0" "c.1744C>G" "r.(?)" "p.(Gln582Glu)" "" "0000915127" "00011720" "50" "1568" "0" "1568" "0" "c.1568A>C" "r.(?)" "p.(Asn523Thr)" "" "0000915128" "00011720" "30" "744" "0" "744" "0" "c.744G>A" "r.(?)" "p.(Pro248=)" "" "0000926809" "00011720" "30" "2766" "0" "2766" "0" "c.2766C>T" "r.(?)" "p.(Ala922=)" "" "0000926810" "00011720" "30" "844" "0" "844" "0" "c.844C>T" "r.(?)" "p.(Pro282Ser)" "" "0000926811" "00011720" "30" "779" "0" "779" "0" "c.779G>T" "r.(?)" "p.(Gly260Val)" "" "0000926812" "00011720" "30" "48" "0" "48" "0" "c.48G>A" "r.(?)" "p.(Leu16=)" "" "0000926813" "00011720" "30" "-2689" "0" "-2689" "0" "c.-2689A>G" "r.(?)" "p.(=)" "" "0000930998" "00011720" "30" "1838" "0" "1838" "0" "c.1838G>A" "r.(?)" "p.(Arg613Gln)" "" "0000930999" "00011720" "70" "262" "3" "262" "3" "c.262+3G>C" "r.spl?" "p.?" "" "0000939875" "00011720" "90" "2864" "0" "2879" "0" "c.2864_2879del" "r.(?)" "p.(Thr955SerfsTer73)" "23" "0000939905" "00011720" "90" "418" "0" "418" "0" "c.418C>T" "r.(?)" "p.(Arg140Ter)" "3" "0000951216" "00011720" "30" "1437" "0" "1437" "0" "c.1437G>T" "r.(?)" "p.(Ala479=)" "" "0000969557" "00011720" "30" "743" "0" "743" "0" "c.743C>T" "r.(?)" "p.(Pro248Leu)" "" "0000983201" "00011720" "50" "2710" "0" "2710" "0" "c.2710A>T" "r.(?)" "p.(Thr904Ser)" "" "0000983202" "00011720" "70" "2528" "0" "2528" "0" "c.2528del" "r.(?)" "p.(Leu843Argfs*81)" "" "0001004354" "00011720" "30" "2993" "0" "2993" "0" "c.2993G>A" "r.(?)" "p.(Arg998His)" "" "0001004355" "00011720" "30" "2267" "8" "2267" "8" "c.2267+8dup" "r.(=)" "p.(=)" "" "0001004356" "00011720" "50" "1787" "0" "1787" "0" "c.1787T>G" "r.(?)" "p.(Ile596Ser)" "" "0001004357" "00011720" "50" "749" "0" "749" "0" "c.749C>T" "r.(?)" "p.(Ala250Val)" "" "0001012434" "00011720" "30" "844" "0" "844" "0" "c.844C>T" "r.(?)" "p.(Pro282Ser)" "" "0001042609" "00011720" "90" "2248" "0" "2248" "0" "c.2248C>T" "r.(?)" "p.(Arg750Trp)" "" "0001042610" "00011720" "30" "1941" "0" "1941" "0" "c.1941T>C" "r.(?)" "p.(=)" "" "0001042611" "00011720" "90" "1929" "0" "1929" "0" "c.1929G>A" "r.(?)" "p.(Trp643*)" "" "0001042612" "00011720" "30" "1928" "10" "1928" "10" "c.1928+10G>C" "r.(=)" "p.(=)" "" "0001042613" "00011720" "50" "1844" "0" "1844" "0" "c.1844C>T" "r.(?)" "p.(Thr615Met)" "" "0001042614" "00011720" "10" "719" "0" "719" "0" "c.719G>A" "r.(?)" "p.(Arg240Gln)" "" "0001042615" "00011720" "50" "179" "0" "179" "0" "c.179C>T" "r.(?)" "p.(Pro60Leu)" "" "0001046713" "00011720" "90" "2887" "0" "2887" "0" "c.2887del" "r.(?)" "p.(Glu963Argfs*70)" "" "0001046714" "00011720" "50" "1204" "0" "1204" "0" "c.1204G>A" "r.(?)" "p.(Glu402Lys)" "" "0001046715" "00011720" "90" "1026" "2" "1026" "2" "c.1026+2T>G" "r.spl?" "p.?" "" "0001056494" "00011720" "50" "2701" "0" "2701" "0" "c.2701C>A" "r.(?)" "p.(His901Asn)" "" "0001056495" "00011720" "90" "2248" "0" "2248" "0" "c.2248C>T" "r.(?)" "p.(Arg750Trp)" "" "0001056496" "00011720" "50" "2105" "0" "2105" "0" "c.2105G>T" "r.(?)" "p.(Arg702Leu)" "" "0001056497" "00011720" "90" "1583" "0" "1583" "0" "c.1583dup" "r.(?)" "p.(Pro529Alafs*82)" "" "0001056498" "00011720" "50" "516" "0" "516" "0" "c.516G>A" "r.(?)" "p.(Met172Ile)" "" "0001058864" "00011720" "90" "2426" "0" "2426" "0" "c.2426T>C" "r.(?)" "p.(Leu809Pro)" "" "0001058865" "00011720" "90" "1203" "0" "1203" "0" "c.1203C>G" "r.(?)" "p.(Tyr401Ter)" "" "0001058866" "00011720" "70" "371" "0" "371" "0" "c.371T>C" "r.(?)" "p.(Phe124Ser)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 72 "{{screeningid}}" "{{variantid}}" "0000207852" "0000437558" "0000207852" "0000437559" "0000241091" "0000486870" "0000241092" "0000486871" "0000241093" "0000486872" "0000241094" "0000486873" "0000241095" "0000486874" "0000241096" "0000486875" "0000241097" "0000486876" "0000241098" "0000486877" "0000241099" "0000486878" "0000241100" "0000486879" "0000241101" "0000486880" "0000241102" "0000486881" "0000241103" "0000486882" "0000241104" "0000486883" "0000241105" "0000486884" "0000241106" "0000486885" "0000241107" "0000486886" "0000241108" "0000486887" "0000241109" "0000486888" "0000241110" "0000486889" "0000241111" "0000486890" "0000241112" "0000486891" "0000241113" "0000486892" "0000241114" "0000486893" "0000241115" "0000486894" "0000241116" "0000486895" "0000241117" "0000486896" "0000241118" "0000486897" "0000241119" "0000486898" "0000241120" "0000486899" "0000241121" "0000486900" "0000241122" "0000486901" "0000241123" "0000486902" "0000241124" "0000486903" "0000241125" "0000486904" "0000241126" "0000486905" "0000241127" "0000486906" "0000241128" "0000486907" "0000241129" "0000486908" "0000241130" "0000486909" "0000241131" "0000486910" "0000241132" "0000486911" "0000241133" "0000486916" "0000241133" "0000486921" "0000241133" "0000486922" "0000241134" "0000486912" "0000241134" "0000486913" "0000241134" "0000486917" "0000241134" "0000486918" "0000241135" "0000486914" "0000241135" "0000486915" "0000241135" "0000486919" "0000241135" "0000486920" "0000241136" "0000486923" "0000293206" "0000649895" "0000293207" "0000649896" "0000293208" "0000649897" "0000310365" "0000685276" "0000319175" "0000701839" "0000335226" "0000733235" "0000335226" "0000733651" "0000362817" "0000763191" "0000388996" "0000817789" "0000390680" "0000820025" "0000441933" "0000939875" "0000441933" "0000939905" "0000457887" "0001012434" "0000470742" "0001058864" "0000470743" "0001058865" "0000470744" "0001058866"