### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = RAB3GAP1) # 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}}" "RAB3GAP1" "RAB3 GTPase activating protein subunit 1 (catalytic)" "2" "q21.3" "no" "NG_016972.2" "UD_132085387849" "" "https://www.LOVD.nl/RAB3GAP1" "" "1" "17063" "22930" "602536" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "http://databases.lovd.nl/shared/refseq/RAB3GAP1_codingDNA.html" "1" "" "" "-1" "" "-1" "00006" "2010-04-29 00:00:00" "00006" "2023-07-24 14:24:40" "00006" "2025-11-25 19:19:10" ## Transcripts ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00001773" "RAB3GAP1" "transcript variant 1" "001" "NM_001172435.1" "" "NP_001165906.1" "" "" "" "-43" "4896" "2967" "135809835" "135928280" "00006" "2012-12-10 09:03:44" "" "" "00025736" "RAB3GAP1" "transcript variant 2" "002" "NM_012233.2" "" "NP_036365.1" "" "" "" "-43" "4875" "2946" "135809835" "135928280" "03840" "2022-09-07 15:08:20" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 11 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00092" "WARBM1" "Warburg micro syndrome, type 1 (WARBM1)" "AR" "600118" "" "" "" "00006" "2012-12-10 09:01:56" "00006" "2021-12-10 21:51:32" "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" "00296" "CTRCT" "cataract (CTRCT)" "" "" "" "" "" "00006" "2014-01-16 08:42:13" "00006" "2015-03-07 14:30:33" "00325" "SPG" "paraplegia, spastic (SPG)" "" "" "" "" "" "00006" "2014-02-15 22:29:17" "00006" "2016-11-28 13:01:43" "00356" "MCOP" "anoophthalmia/microphthalmia" "" "" "" "" "" "00006" "2014-03-14 18:41:31" "00006" "2025-11-23 21:29:13" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "05421" "microcephaly" "microcephaly" "" "" "" "" "" "00006" "2018-04-15 11:41:15" "" "" "05922" "WARBM" "Warburg Micro syndrome (WARBM)" "" "" "" "" "" "00006" "2021-04-23 15:32:09" "00006" "2021-12-10 21:51:32" "07014" "MARTS2" "Martsolf syndrome, type 2" "AR" "619420" "" "" "" "00006" "2023-07-24 14:23:42" "" "" "07015" "MARTS" "Martsolf syndrome" "" "" "" "" "" "00006" "2023-07-24 14:24:03" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 5 "{{geneid}}" "{{diseaseid}}" "RAB3GAP1" "00092" "RAB3GAP1" "00139" "RAB3GAP1" "05922" "RAB3GAP1" "07014" "RAB3GAP1" "07015" ## Individuals ## Do not remove or alter this header ## ## Count = 92 "{{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}}" "00056408" "" "" "" "1" "" "01494" "{PMID:Rump 2016:26846091}" "" "F" "" "" "" "0" "" "" "" "" "00080941" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected parents" "" "" "" "" "0" "" "" "" "" "00081093" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected parents" "" "" "" "" "0" "" "" "" "" "00292247" "" "" "" "89" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00307139" "" "" "" "1" "" "03388" "" "" "F" "yes" "Iran" "" "" "" "" "Lur" "RABopathies 1" "00332118" "" "" "" "1" "" "00000" "{PMID:Patel 2017:29450879}" "family" "" "yes" "Saudi Arabia" "" "0" "" "" "" "F46‐M" "00332119" "" "" "" "1" "" "00000" "{PMID:Patel 2017:29450879}" "family" "" "yes" "Saudi Arabia" "" "0" "" "" "" "F47‐M" "00332120" "" "" "" "1" "" "00000" "{PMID:Patel 2017:29450879}" "patient" "" "yes" "Saudi Arabia" "" "0" "" "" "" "F48‐M" "00362830" "" "" "" "1" "" "00006" "{PMID:Handley 2013:23420520}" "" "" "" "Turkey" "" "0" "" "" "" "K1" "00362831" "" "" "" "1" "" "00006" "{PMID:Handley 2013:23420520}" "" "" "" "Pakistan" "" "0" "" "" "" "K2" "00362832" "" "" "" "1" "" "00006" "{PMID:Handley 2013:23420520}" "" "" "" "Pakistan" "" "0" "" "" "" "K3" "00362833" "" "" "" "1" "" "00006" "{PMID:Handley 2013:23420520}" "" "" "" "Turkey" "" "0" "" "" "" "K4" "00362834" "" "" "" "1" "" "00006" "{PMID:Handley 2013:23420520}" "" "" "" "Morocco" "" "0" "" "" "" "K5" "00362835" "" "" "" "1" "" "00006" "{PMID:Handley 2013:23420520}" "" "" "" "Egypt" "" "0" "" "" "" "K6" "00362836" "" "" "" "1" "" "00006" "{PMID:Handley 2013:23420520}" "" "" "" "Egypt" "" "0" "" "" "" "K7" "00362837" "" "" "" "1" "" "00006" "{PMID:Handley 2013:23420520}" "" "" "" "Turkey" "" "0" "" "" "" "K8" "00362838" "" "" "" "1" "" "00006" "{PMID:Handley 2013:23420520}" "" "" "" "Pakistan" "" "0" "" "" "" "K9" "00362839" "" "" "" "1" "" "00006" "{PMID:Handley 2013:23420520}" "" "" "" "Turkey" "" "0" "" "" "" "K10" "00362840" "" "" "" "1" "" "00006" "{PMID:Handley 2013:23420520}" "" "" "" "Egypt" "" "0" "" "" "" "K11" "00362841" "" "" "" "1" "" "00006" "{PMID:Handley 2013:23420520}" "" "" "" "India" "" "0" "" "" "" "K12" "00362842" "" "" "" "1" "" "00006" "{PMID:Handley 2013:23420520}" "" "" "" "Nigeria" "" "0" "" "" "" "K13" "00362843" "" "" "" "1" "" "00006" "{PMID:Handley 2013:23420520}" "" "" "" "Turkey" "" "0" "" "" "" "K14" "00362844" "" "" "" "1" "" "00006" "{PMID:Handley 2013:23420520}" "" "" "" "India" "" "0" "" "" "" "K15" "00362845" "" "" "" "1" "" "00006" "{PMID:Handley 2013:23420520}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "K16" "00362846" "" "" "" "1" "" "00006" "{PMID:Handley 2013:23420520}" "" "" "" "Algeria" "" "0" "" "" "" "K17" "00362847" "" "" "" "1" "" "00006" "{PMID:Handley 2013:23420520}" "" "" "" "Germany" "" "0" "" "" "" "K18" "00362848" "" "" "" "1" "" "00006" "{PMID:Handley 2013:23420520}" "" "" "" "India" "" "0" "" "" "" "K19" "00362849" "" "" "" "1" "" "00006" "{PMID:Handley 2013:23420520}" "" "" "" "Egypt" "" "0" "" "" "" "K20" "00362850" "" "" "" "1" "" "00006" "{PMID:Handley 2013:23420520}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "K21" "00362851" "" "" "" "1" "" "00006" "{PMID:Handley 2013:23420520}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "K22" "00362852" "" "" "" "1" "" "00006" "{PMID:Handley 2013:23420520}" "" "" "" "Germany" "" "0" "" "" "" "K23" "00362853" "" "" "" "1" "" "00006" "{PMID:Handley 2013:23420520}" "" "" "" "Israel" "" "0" "" "" "" "K24" "00362854" "" "" "" "1" "" "00006" "{PMID:Handley 2013:23420520}" "" "" "" "Pakistan" "" "0" "" "" "" "K25" "00362855" "" "" "" "1" "" "00006" "{PMID:Handley 2013:23420520}" "" "" "" "Egypt" "" "0" "" "" "" "K26" "00362856" "" "" "" "1" "" "00006" "{PMID:Handley 2013:23420520}" "" "" "" "Turkey" "" "0" "" "" "" "K27" "00362857" "" "" "" "1" "" "00006" "{PMID:Handley 2013:23420520}" "" "" "" "Turkey" "" "0" "" "" "" "K28" "00362858" "" "" "" "1" "" "00006" "{PMID:Handley 2013:23420520}" "" "" "" "Turkey" "" "0" "" "" "" "K29" "00362859" "" "" "" "1" "" "00006" "{PMID:Handley 2013:23420520}" "" "" "" "Turkey" "" "0" "" "" "" "K30" "00362860" "" "" "" "1" "" "00006" "{PMID:Handley 2013:23420520}" "" "" "" "Turkey" "" "0" "" "" "" "K31" "00362861" "" "" "" "1" "" "00006" "{PMID:Handley 2013:23420520}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "K32" "00362862" "" "" "" "1" "" "00006" "{PMID:Handley 2013:23420520}" "" "" "" "Egypt" "" "0" "" "" "" "K33" "00362863" "" "" "" "1" "" "00006" "{PMID:Handley 2013:23420520}" "" "" "" "Canada" "" "0" "" "" "" "K34" "00362864" "" "" "" "1" "" "00006" "{PMID:Handley 2013:23420520}" "" "" "" "Spain" "" "0" "" "" "" "K35" "00362865" "" "" "" "1" "" "00006" "{PMID:Handley 2013:23420520}" "" "" "" "Germany" "" "0" "" "" "" "K36" "00362866" "" "" "" "1" "" "00006" "{PMID:Handley 2013:23420520}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "K37" "00362867" "" "" "" "1" "" "00006" "{PMID:Handley 2013:23420520}" "" "" "" "Czech Republic" "" "0" "" "" "" "K38" "00362868" "" "" "" "1" "" "00006" "{PMID:Handley 2013:23420520}" "" "" "" "United States" "" "0" "" "" "white" "K39" "00362869" "" "" "" "1" "" "00006" "{PMID:Handley 2013:23420520}" "" "" "" "" "" "0" "" "" "white;Europe" "K40" "00362870" "" "" "" "1" "" "00006" "{PMID:Handley 2013:23420520}" "" "" "" "France" "" "0" "" "" "" "K41" "00362871" "" "" "" "1" "" "00006" "{PMID:Handley 2013:23420520}" "" "" "" "Saudi Arabia;Turkey" "" "0" "" "" "" "K42" "00363166" "" "" "" "1" "" "00006" "{PMID:Abdel-Salam 2007:18286824}" "" "" "" "Egypt" "" "0" "" "" "" "patient" "00363167" "" "" "" "1" "" "00006" "{PMID:Abdel-Salam 2007:18286824}" "" "" "yes" "Egypt" "" "0" "" "" "" "patient" "00363168" "" "" "" "1" "" "00006" "{PMID:Aligianis 2005:15696165}" "" "M" "yes" "Pakistan" "" "0" "" "" "" "FamK1" "00363169" "" "" "" "1" "" "00006" "{PMID:Aligianis 2005:15696165}" "" "F" "yes" "Pakistan" "" "0" "" "" "" "FamK2" "00363170" "" "" "" "1" "" "00006" "{PMID:Aligianis 2005:15696165}" "" "F" "yes" "Pakistan" "" "0" "" "" "" "FamK3" "00363171" "" "" "" "1" "" "00006" "{PMID:Aligianis 2005:15696165}" "" "F" "yes" "Morocco" "" "0" "" "" "" "FamK4" "00363172" "" "" "" "1" "" "00006" "{PMID:Aligianis 2005:15696165}" "" "" "yes" "Pakistan" "" "0" "" "" "" "FamK5" "00363173" "" "" "" "1" "" "00006" "{PMID:Aligianis 2005:15696165}" "" "" "yes" "Pakistan" "" "0" "" "" "" "FamK9" "00363174" "" "" "" "1" "" "00006" "{PMID:Aligianis 2005:15696165}" "" "" "yes" "Pakistan" "" "0" "" "" "" "FamK10" "00363175" "" "" "" "1" "" "00006" "{PMID:Aligianis 2005:15696165}" "" "" "yes" "Lebanon" "" "0" "" "" "" "FamK11" "00363176" "" "" "" "1" "" "00006" "{PMID:Aligianis 2005:15696165}" "" "" "yes" "Turkey" "" "0" "" "" "" "FamK12" "00363177" "" "" "" "1" "" "00006" "{PMID:Aligianis 2005:15696165}" "" "M" "no" "South Africa" "" "0" "" "" "" "FamK13" "00363178" "" "" "" "1" "" "00006" "{PMID:Aligianis 2005:15696165}" "" "M" "yes" "Pakistan" "" "0" "" "" "" "FamK14" "00363179" "" "" "" "1" "" "00006" "{PMID:Aligianis 2005:15696165}" "" "" "no" "Mexico" "" "0" "" "" "" "FamK15" "00363180" "" "" "" "1" "" "00006" "{PMID:Morris-Rosendahl 2010:20512159}" "" "F" "yes" "Turkey" "" "0" "" "" "" "Pat1" "00363181" "" "" "" "2" "" "00006" "{PMID:Morris-Rosendahl 2010:20512159}" "2-generation family, 2 affected sibs, unaffected heterozygous carrier parents" "M" "yes" "Turkey" "" "0" "" "" "" "Pat2" "00363182" "" "" "00363181" "1" "" "00006" "{PMID:Morris-Rosendahl 2010:20512159}" "sib" "M" "yes" "Turkey" "" "0" "" "" "" "Pat3" "00363183" "" "" "" "1" "" "00006" "{PMID:Morris-Rosendahl 2010:20512159}" "" "" "yes" "Palestine" "" "0" "" "" "" "Pat4" "00363184" "" "" "" "1" "" "00006" "{PMID:Morris-Rosendahl 2010:20512159}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "Denmark" "" "0" "" "" "" "Pat5" "00363185" "" "" "" "2" "" "00006" "{PMID:Morris-Rosendahl 2010:20512159}" "2-generation family, 2 affected sibs, unaffected heterozygous carrier parents" "M" "" "Guatemala" "" "0" "" "" "" "Pat6" "00363186" "" "" "00363185" "1" "" "00006" "{PMID:Morris-Rosendahl 2010:20512159}" "sib" "F" "" "Guatemala" "" "0" "" "" "" "Pat7" "00363187" "" "" "" "1" "" "00006" "{PMID:Yuksel 2007:17351351}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "Turkey" "" "0" "" "" "" "patient" "00374454" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-3829" "00374822" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "R-0556" "00385524" "" "" "" "1" "" "00000" "{PMID:Lenassi 2020:31848469}" "retrospective analysis" "F" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "17014480" "00387821" "" "" "" "3" "" "00006" "{PMID:Hu 2019:29302074}" "family, 3 affected individuals, first cousin parents" "" "yes" "Iran" "" "0" "" "" "Persia" "M8700147" "00415251" "" "" "" "1" "" "00000" "{PMID:Alfares 2018:30202406}" "" "M" "" "" "" "0" "" "" "" "6" "00416844" "" "" "" "1" "" "00000" "{PMID:Rump 2016:26846091}" "" "F" "" "" "" "0" "" "" "" "1" "00444971" "" "" "" "1" "" "00006" "{PMID:Patel 2017:27878435}" "simplex case" "" "" "" "" "0" "" "" "" "13DG1449" "00445052" "" "" "" "1" "" "00006" "{PMID:Kessel 2021:34169787}" "patient" "" "" "Denmark" "" "0" "" "" "" "WARBM1309" "00445053" "" "" "" "2" "" "00006" "{PMID:Kessel 2021:34169787}" "family, 2 affected" "" "" "Denmark" "" "0" "" "" "" "WARBM1511" "00445054" "" "" "" "1" "" "00006" "{PMID:Kessel 2021:34169787}" "patient" "" "" "Denmark" "" "0" "" "" "" "WARBM1552" "00453463" "" "" "" "1" "" "03544" "" "" "M" "-" "- (not applicable)" "" "" "" "" "" "" "00453485" "" "" "" "1" "" "03544" "" "" "F" "-" "- (not applicable)" "" "" "" "" "" "" "00468509" "" "" "" "1" "" "00006" "{PMID:Wang 2022:36553631}, {PMID:Wang 2024:38184101}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "China" "" "0" "" "" "" "Pat68" "00469273" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" "" "00469274" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" "" "00469275" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" "" "00469276" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" "" "00469277" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" "" "00469278" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" "" "00470033" "" "" "" "1" "" "00006" "{PMID:Lecca 2024:38840272}" "3-generation family, 1 affected, unaffected carrier parents" "F" "yes" "Italy" "" "0" "" "" "" "FamTPat29" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 92 "{{individualid}}" "{{diseaseid}}" "00056408" "00092" "00080941" "00092" "00081093" "00092" "00292247" "00198" "00307139" "05421" "00332118" "00356" "00332119" "00356" "00332120" "00356" "00362830" "05922" "00362831" "05922" "00362832" "05922" "00362833" "05922" "00362834" "05922" "00362835" "05922" "00362836" "05922" "00362837" "05922" "00362838" "05922" "00362839" "05922" "00362840" "05922" "00362841" "05922" "00362842" "05922" "00362843" "05922" "00362844" "05922" "00362845" "05922" "00362846" "05922" "00362847" "05922" "00362848" "05922" "00362849" "05922" "00362850" "05922" "00362851" "05922" "00362852" "05922" "00362853" "05922" "00362854" "05922" "00362855" "05922" "00362856" "05922" "00362857" "05922" "00362858" "05922" "00362859" "05922" "00362860" "05922" "00362861" "05922" "00362862" "05922" "00362863" "05922" "00362864" "05922" "00362865" "05922" "00362866" "05922" "00362867" "05922" "00362868" "05922" "00362869" "05922" "00362870" "05922" "00362871" "05922" "00363166" "05922" "00363167" "05922" "00363168" "05922" "00363169" "05922" "00363170" "05922" "00363171" "05922" "00363172" "05922" "00363173" "05922" "00363174" "05922" "00363175" "05922" "00363176" "05922" "00363177" "05922" "00363178" "05922" "00363179" "05922" "00363180" "05922" "00363181" "05922" "00363182" "05922" "00363183" "05922" "00363184" "05922" "00363185" "05922" "00363186" "05922" "00363187" "05922" "00374454" "00198" "00374822" "00198" "00385524" "04214" "00387821" "00139" "00415251" "04214" "00416844" "05922" "00444971" "00296" "00445052" "00296" "00445053" "00296" "00445054" "00296" "00453463" "00198" "00453485" "00139" "00468509" "00296" "00469273" "00198" "00469274" "00198" "00469275" "00198" "00469276" "00198" "00469277" "00198" "00469278" "00198" "00470033" "00325" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00092, 00139, 00198, 00296, 00325, 00356, 04214, 05421, 05922, 07014, 07015 ## Count = 91 "{{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}}" "0000043035" "04044" "00056408" "01494" "Familial, autosomal recessive" "" "Microcephaly (HP:0000252)" "" "" "" "" "" "" "" "" "" "" "" "0000060510" "00092" "00080941" "01758" "Familial, autosomal recessive" "" "Warburg micro syndrome 1 (OMIM:600118)" "" "" "" "" "" "" "" "" "" "" "" "0000060662" "00092" "00081093" "01758" "Familial, autosomal recessive" "" "Warburg Micro syndrome 1 (OMIM:600118)" "" "" "" "" "" "" "" "" "" "" "" "0000232947" "05421" "00307139" "03388" "Familial, autosomal recessive" "05y" "HP:0000519\r\nHP:0007970\r\nHP:0009062\r\nHP:0001257\r\nHP:0100022\r\nHP:0001273\r\nHP:0001344\r\nHP:0006808\r\nHP:0010864\r\nHP:0002063\r\nHP:0001257\r\nHP:0003868\r\nHP:0003928\r\nHP:0002944\r\nHP:0000175\r\nHP:0000028\r\nHP:0000998\r\nHP:0003868\r\nHP:0000369\r\nHP:0003928" "00y06m?" "05y" "" "" "" "" "" "" "Warburg Micro syndrome type 1" "Warburg Micro syndrome" "" "0000250309" "00356" "00332118" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "syndromic microphthalmia" "" "0000250310" "00356" "00332119" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "syndromic microphthalmia" "" "0000250311" "00356" "00332120" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "syndromic microphthalmia" "" "0000258200" "05922" "00362830" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "WARMB1" "Warburg micro syndrome" "" "0000258201" "05922" "00362831" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "WARMB1" "Warburg micro syndrome" "" "0000258202" "05922" "00362832" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "WARMB1" "Warburg micro syndrome" "" "0000258203" "05922" "00362833" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "WARMB1" "Warburg micro syndrome" "" "0000258204" "05922" "00362834" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "WARMB1" "Warburg micro syndrome" "" "0000258205" "05922" "00362835" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "WARMB1" "Warburg micro syndrome" "" "0000258206" "05922" "00362836" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "WARMB1" "Martsolf syndrome" "" "0000258207" "05922" "00362837" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "WARMB1" "Warburg micro syndrome" "" "0000258208" "05922" "00362838" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "WARMB1" "Warburg micro syndrome" "" "0000258209" "05922" "00362839" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "WARMB1" "Warburg micro syndrome" "" "0000258210" "05922" "00362840" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "WARMB1" "Warburg micro syndrome" "" "0000258211" "05922" "00362841" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "WARMB1" "Warburg micro syndrome" "" "0000258212" "05922" "00362842" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "WARMB1" "Warburg micro syndrome" "" "0000258213" "05922" "00362843" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "WARMB1" "Warburg micro syndrome" "" "0000258214" "05922" "00362844" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "WARMB1" "Warburg micro syndrome" "" "0000258215" "05922" "00362845" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "WARMB1" "Warburg micro syndrome" "" "0000258216" "05922" "00362846" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "WARMB1" "Warburg micro syndrome" "" "0000258217" "05922" "00362847" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "WARMB1" "Warburg micro syndrome" "" "0000258218" "05922" "00362848" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "WARMB1" "Warburg micro syndrome" "" "0000258219" "05922" "00362849" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "WARMB1" "Warburg micro syndrome" "" "0000258220" "05922" "00362850" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "WARMB1" "Warburg micro syndrome" "" "0000258221" "05922" "00362851" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "WARMB1" "Warburg micro syndrome" "" "0000258222" "05922" "00362852" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "WARMB1" "Warburg micro syndrome" "" "0000258223" "05922" "00362853" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "WARMB1" "Warburg micro syndrome" "" "0000258224" "05922" "00362854" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "WARMB1" "Warburg micro syndrome" "" "0000258225" "05922" "00362855" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "WARMB1" "Warburg micro syndrome" "" "0000258226" "05922" "00362856" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "WARMB1" "Warburg micro syndrome" "" "0000258227" "05922" "00362857" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "WARMB1" "Warburg micro syndrome" "" "0000258228" "05922" "00362858" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "WARMB1" "Warburg micro syndrome" "" "0000258229" "05922" "00362859" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "WARMB1" "Warburg micro syndrome" "" "0000258230" "05922" "00362860" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "WARMB1" "Warburg micro syndrome" "" "0000258231" "05922" "00362861" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "WARMB1" "Warburg micro syndrome" "" "0000258232" "05922" "00362862" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "WARMB1" "Warburg micro syndrome" "" "0000258233" "05922" "00362863" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "WARMB1" "Warburg micro syndrome" "" "0000258234" "05922" "00362864" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "WARMB1" "Warburg micro syndrome" "" "0000258235" "05922" "00362865" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "WARMB1" "Warburg micro syndrome" "" "0000258236" "05922" "00362866" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "WARMB1" "Warburg micro syndrome" "" "0000258237" "05922" "00362867" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "WARMB1" "Warburg micro syndrome" "" "0000258238" "05922" "00362868" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "WARMB1" "Warburg micro syndrome" "" "0000258239" "05922" "00362869" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "WARMB1" "Warburg micro syndrome" "" "0000258240" "05922" "00362870" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "WARMB1" "Warburg micro syndrome" "" "0000258241" "05922" "00362871" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "WARMB1" "Warburg micro syndrome" "" "0000258532" "05922" "00363166" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "WARBM1" "Micro syndrome" "" "0000258533" "05922" "00363167" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "WARBM1" "Micro syndrome" "" "0000258534" "05922" "00363168" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "WARBM1" "Warburg Micro Syndrome" "" "0000258535" "05922" "00363169" "00006" "Familial, autosomal recessive" "" "intra-uterine growth retardation; postnatal growth retardation; birth OFC 2nd centile; postnatal microcephaly; no seizures; EEG normal; severe developmental delay; truncal hypotonia; spastic cerebral palsy; no congenital contractures; no speech; not walking; feeding difficulties; CT brain normal; microcornea; microphthalmia; congenital dense central cataracts; small atonic pupils; optic nerve hypoplasia/atrophy; blind or light perception only; deep set eyes; brachycephaly; beaked nose/prominent root nose; no hirsuitism; low frontal hairline; large anteverted ears; no genital abnormalities" "" "" "" "" "" "" "" "" "WARBM1" "Warburg Micro Syndrome" "" "0000258536" "05922" "00363170" "00006" "Familial, autosomal recessive" "" "intra-uterine growth retardation; no postnatal growth retardation; birth OFC 25th centile; postnatal microcephaly; no seizures; EEG normal; severe developmental delay; truncal hypotonia; spastic cerebral palsy; no congenital contractures; no speech; not walking; no feeding difficulties; CT brain bilateral frontal pachygyria; microphthalmia; congenital dense central cataracts; small atonic pupils; blind or light perception only; ptosis; deep set eyes; brachycephaly; beaked nose/prominent root nose; hirsuitism; low frontal hairline; large anteverted ears; no genital abnormalities" "" "" "" "" "" "" "" "" "WARBM1" "Warburg Micro Syndrome" "" "0000258537" "05922" "00363171" "00006" "Familial, autosomal recessive" "" "intra-uterine growth retardation; no postnatal growth retardation; birth OFC 2nd-9th centile; postnatal microcephaly; no seizures; EEG normal; severe developmental delay; truncal hypotonia; spastic cerebral palsy; no congenital contractures; no speech; not walking; no feeding difficulties; MRI brain thin corpus and splenium of corpus callosum, bilateral frontal polymicrogyria; no microcornea; right microphthalmia; congenital dense central cataracts; small atonic pupils; optic nerve hypoplasia/atrophy; blind or light perception only; no ptosis; deep set eyes; brachycephaly; beaked nose/prominent root nose; no hirsuitism; low frontal hairline; no large anteverted ears; hypogenitalism; umbilical hernia" "" "" "" "" "" "" "" "" "WARBM1" "Warburg Micro Syndrome" "" "0000258538" "05922" "00363172" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "WARBM1" "Warburg Micro Syndrome" "" "0000258539" "05922" "00363173" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "WARBM1" "Warburg Micro Syndrome" "" "0000258540" "05922" "00363174" "00006" "Familial, autosomal recessive" "" "intra-uterine growth retardation; postnatal growth retardation; birth OFC 2nd-9th centile; postnatal microcephaly; no seizures; severe developmental delay; truncal hypotonia; spastic cerebral palsy; no congenital contractures; no speech; not walking; feeding difficulties; MRI brain thin corpus and splenium of corpus callosum, decreased myelination of whlte matter; microcornea; microphthalmia; congenital dense central cataracts; small pupils but react to light; optic nerve hypoplasia/atrophy; blind or light perception only; deep set eyes; brachycephaly; beaked nose/prominent root nose; hirsuitism; low frontal hairline; large anteverted ears; micropenis, hypospadius; growth hormone deficiency" "" "" "" "" "" "" "" "" "WARBM1" "Warburg Micro Syndrome" "" "0000258541" "05922" "00363175" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "WARBM1" "Warburg Micro Syndrome" "" "0000258542" "05922" "00363176" "00006" "Familial, autosomal recessive" "" "no intra-uterine growth retardation; postnatal growth retardation; birth OFC 50-75th centile; postnatal microcephaly; no seizures; EEG normal; severe developmental delay; truncal hypotonia; spastic cerebral palsy; no congenital contractures; no speech; not walking; feeding difficulties; MRI brain delayed myelination, cerebral atrophy particularly frontal, hypoplasia corpus callosum, pachygyria; microcornea; microphthalmia; congenital dense central cataracts; small atonic pupils; optic nerve hypoplasia/atrophy; L side ptosis; deep set eyes; no brachycephaly; beaked nose/prominent root nose; no hirsuitism; low frontal hairline; large anteverted ears; no genital abnormalities" "" "" "" "" "" "" "" "" "WARBM1" "Warburg Micro Syndrome" "" "0000258543" "05922" "00363177" "00006" "Familial, autosomal recessive" "" "no intra-uterine growth retardation; no postnatal growth retardation; birth OFC 25th centile; postnatal microcephaly; no seizures; EEG normal; severe developmental delay; truncal hypotonia; spastic cerebral palsy; no congenital contractures; no speech; not walking; feeding difficulties; CT brain abnormal corpus callosum; MRI brain hypogenesis corpus callosum, agenesis splenium, decreased myelination whilte matter; microcornea; microphthalmia; congenital dense central cataracts; small atonic pupils; optic nerve hypoplasia/atrophy; blind or light perception only; ptosis; deep set eyes; brachycephaly; no beaked nose/no prominent root nose; no hirsuitism; no low frontal hairline; large anteverted ears; micropenis, bifid scrotum, cryptorchidism; few renal cysts on ultrasound, DMSA normal" "" "" "" "" "" "" "" "" "WARBM1" "Warburg Micro Syndrome" "" "0000258544" "05922" "00363178" "00006" "Familial, autosomal recessive" "" "no intra-uterine growth retardation; no postnatal growth retardation; birth OFC 50th centile; postnatal microcephaly; no seizures; severe developmental delay; truncal hypotonia; spastic cerebral palsy; no congenital contractures; no speech; not walking; no feeding difficulties; CT brain cerebral atrophy; microcornea; microphthalmia; congenital dense central cataracts; blind or light perception only; beaked nose/prominent root nose; large anteverted ears; micropenis, cryptorchidism" "" "" "" "" "" "" "" "" "WARBM1" "Warburg Micro Syndrome" "" "0000258545" "05922" "00363179" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "WARBM1" "Warburg Micro Syndrome" "" "0000258546" "05922" "00363180" "00006" "Familial, autosomal recessive" "18m" "microcephaly; micro-opthalmia; micro-cornia; bilateral congenital cataracts; persistently constricted pupils; bitemporal hollowing, small mouth, retrognathia, high arched palate, low set ears; hypertrichosis, particularly on back; genital hypoplasia: hypoplastic labia maiora; severe developmental delay; severe axial hypotonia and peripheral hypertonia, marked rigidity of the hips and knees; osteopenic aspect skeleton, bilateral coxa valga; MRI brain bilateral frontal polymicrogyria, corpus callosum hypogenesis, cerebellar vermis hypoplasia, wide sylvian fissures, delayed myelinisation; no seizures; failure to thrive, feeding difficulties (all liquids are thickened and food has to be blended), widely-spaced nipples," "" "" "" "" "" "" "" "" "WARBM1" "Warburg Micro Syndrome" "" "0000258547" "05922" "00363181" "00006" "Familial, autosomal recessive" "4y" "microcephaly; micro-opthalmia; micro-cornia; bilateral congenital cataracts; persistently constricted pupils; sees only light and dark, despite cataract removal, lenses missing, severe strabismus and nystagmus; wide nasal bridge, large malformed, low set ears; hypertrichosis; micropenis, cryptorchidism; severe mental retardation; muscle hypotonia, spastic quadriplegia, contractures, particularly affecting the knee joint, ; overlapping toes; MRI brain bilateral frontal polymicrogyria, corpus callosum hypogenesis, defective myelinisation; no seizures; can only take in liquids and liquidized foods. cardiac ventricle-septal defect, incomplete 4-finger fold" "" "" "" "" "" "" "" "" "WARBM1" "Warburg Micro Syndrome" "" "0000258548" "05922" "00363182" "00006" "Familial, autosomal recessive" "7y" "microcephaly; micro-opthalmia; micro-cornia; bilateral, congenital cataracts, operatively removed at age 5m; glaucoma, bilateral optic atrophy; hypotelorism, low insertion of columella and/or short philtrum, thin lips with tented mouth; no hypertrichosis; hypogonadism, micropenis; severe mental retardation; severe muscle hypotonia, quadriplegic; small hands and feet, brachydactyly of feet; MRI brain bilateral frontal polymicrogyria, copus callosum hypoplasia, cerebellar vermis hypoplasia; no seizures; accessory nipple on right chest, single palmar crease" "" "" "" "" "" "" "" "" "WARBM1" "Warburg Micro Syndrome" "" "0000258549" "05922" "00363183" "00006" "Familial, autosomal recessive" "" "prenatal diagnosis; bilateral cataracts; flat forehead, prominent nasal bridge" "" "" "" "" "" "" "" "" "WARBM1" "Warburg Micro Syndrome" "" "0000258550" "05922" "00363184" "00006" "Familial, autosomal recessive" "3y" "microcephaly; micro-opthalmia; micro-cornia; white membrane, no lens; persistently constricted pupils; optic nerve hypoplasia, retinal changes; mild hypertelorism, deep-set eyes; no hypertrichosis; severe mental retardation; initially hypotonic, 15m-global developmental delay, unable to sit, poor head control, few voluntary movements; hyper-extended first toe both feet; MRI brain bilateral frontal polymicrogyria, corpus callosum hypogenesis, delayed myelinisation; 2-3m-seizures treated with oxcarbazepin, now seizure-free ; initial failure to thrive" "" "" "" "" "" "" "" "" "WARBM1" "Warburg Micro Syndrome" "" "0000258551" "05922" "00363185" "00006" "Familial, autosomal recessive" "5y7m" "microcephaly; micro-opthalmia; micro-cornia; bilateral, congenital cataracts; persistently constricted pupils; wide nasal bridge ; hypertrichosis only on forehead; micropenis, cryptoorchidism; profound mental retardation; unable to sit unsupported, reacts to sound; hallux valgus; MRI brain bilateral frontal polymicrogyria, corpus callosum hypogenesis, cerebellar vermis hypoplasia, megacisterna; no seizures; failure to thrive, oral/pharyngeal dysphagia (peg feeding), umbilical hernia" "" "" "" "" "" "" "" "" "WARBM1" "Warburg Micro Syndrome" "" "0000258552" "05922" "00363186" "00006" "Familial, autosomal recessive" "1y" "microcephaly; micro-opthalmia; micro-cornia; bilateral, congenital cataracts with synechiae to the capsule; persistently constricted pupils; no normal lenses; wide nasal bridge, deep philtrum, anteverted nares ; no hypertrichosis; no hypogonadism; profound developmental delay; 10m-no roll, head lag on pull to sit, does not hold objects, coos, reacts to sound; MRI brain bilateral frontal polymicrogyria, corpus callosum hypogenesis; no seizures" "" "" "" "" "" "" "" "" "WARBM1" "Warburg Micro Syndrome" "" "0000258553" "05922" "00363187" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "WARBM1" "Warburg Micro Syndrome" "" "0000269664" "00198" "00374454" "00006" "Familial, autosomal recessive" "" "Microcornea and thin corpus callosum" "" "" "" "" "" "" "" "" "" "Warburg micro syndrome" "" "0000270032" "00198" "00374822" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Warburg micro syndrome" "" "0000279319" "04214" "00385524" "00000" "Familial, autosomal recessive" "" "" "<1y" "" "" "" "" "" "" "" "" "congenital cataracts, microphthalmia" "" "0000281389" "00139" "00387821" "00006" "Familial, autosomal recessive" "" "syndromic intellectual disability, no microcephaly" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000307049" "04214" "00415251" "00000" "Familial, autosomal recessive" "" "OMIM: 600118; mental retardation" "" "" "" "" "" "" "" "" "Warburg microsyndrome1" "" "" "0000308354" "05922" "00416844" "00000" "Familial, autosomal recessive" "8y" "brain magnetic resonance imaging: thin corpus callosum, mild enlarged ventricles, hypoplasia of vermis and cerebellum; additional clinical featuresbilateral congenital cataracts, microphthalmia, pale optic discs, hypogenitalism, axial hypotonia, hip dislocation, joint contractures, severe intellectual disability" "" "" "" "" "" "" "" "" "Warburg Micro syndrome 1 [MIM 600118]" "" "" "0000334221" "00296" "00444971" "00006" "Familial, autosomal recessive" "" "pediatric cataract as part of micro warburg syndrome; syndromic" "" "" "" "" "" "" "" "" "" "cataract" "" "0000334304" "00296" "00445052" "00006" "Familial, autosomal recessive" "" "bilateral cataract, Warburg micro syndrome" "" "" "" "" "" "" "" "" "WRBM1" "cataract" "" "0000334305" "00296" "00445053" "00006" "Familial, autosomal recessive" "" "bilateral cataract, Warburg micro syndrome" "" "" "" "" "" "" "" "" "WRBM1" "cataract" "" "0000334306" "00296" "00445054" "00006" "Familial, autosomal recessive" "" "bilateral cataract, Warburg micro syndrome" "" "" "" "" "" "" "" "" "WRBM1" "cataract" "" "0000342127" "00198" "00453463" "03544" "Isolated (sporadic)" "" "HP:0000252, HP:0000135, HP:0000519, HP:0002187, HP:0008897" "" "" "" "" "" "" "" "" "WARBM1" "multiple congenital abnormalities" "" "0000342146" "00139" "00453485" "03544" "Isolated (sporadic)" "" "HP:0001249, HP:0000271, HP:0001250" "" "" "" "" "" "" "" "" "WARBM1" "complex neurodevelopmental disorder" "" "0000353661" "00296" "00468509" "00006" "Familial, autosomal recessive" "" "membranous cataract; symmetrical opacities; microcephaly, agenesis of corpus callosum, external genital hypoplasia, muscular hypotonia, cryptorchidism, microcornea, developmental delay" "0y" "" "" "" "" "" "" "" "WARBM1" "bilateral cataract" "" "0000354426" "00198" "00469273" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "multiple congenital anomalies" "" "0000354427" "00198" "00469274" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "multiple congenital anomalies" "" "0000354428" "00198" "00469275" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "abnormality of the eye" "" "0000354429" "00198" "00469276" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "abnormality of the eye" "" "0000354430" "00198" "00469277" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "abnormality of the eye" "" "0000354431" "00198" "00469278" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "abnormality of the eye" "" "0000355178" "00325" "00470033" "00006" "Familial, autosomal recessive" "8y11m" "see paper; ..., syndromic; bilateral total cataract; microphthalmia, microcornea, bilateral hypoplasia optic nerve, pptic nerve coloboma (right); microcephaly, micrognathia, facial dysmorphisms, generalised hypotonia, mild finger clinodactyly, intellectual disability/developmental delay" "1d" "" "" "" "" "" "" "" "" "bilateral total cataract" "" ## Screenings ## Do not remove or alter this header ## ## Count = 92 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000056368" "00056408" "1" "01494" "01494" "2015-12-28 11:52:36" "01494" "2016-01-21 13:17:22" "SEQ-NG-I" "DNA" "DNA isolated from Blood" "" "0000081053" "00080941" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000081205" "00081093" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000293415" "00292247" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000308284" "00307139" "1" "03388" "03388" "2020-08-04 07:40:29" "" "" "ARMS;microscope;PCR;PCRdig;RFLP;RT-PCR;SEQ;SEQ-NG-I" "DNA;RNA" "Blood" "WES" "0000333338" "00332118" "1" "00000" "00006" "2021-02-15 09:08:25" "" "" "SEQ-NG" "DNA" "" "" "0000333339" "00332119" "1" "00000" "00006" "2021-02-15 09:08:25" "" "" "SEQ-NG" "DNA" "" "" "0000333340" "00332120" "1" "00000" "00006" "2021-02-15 09:08:25" "" "" "SEQ-NG" "DNA" "" "" "0000364058" "00362830" "1" "00006" "00006" "2021-04-23 18:13:50" "" "" "SEQ" "DNA" "" "" "0000364059" "00362831" "1" "00006" "00006" "2021-04-23 18:13:50" "" "" "SEQ" "DNA" "" "" "0000364060" "00362832" "1" "00006" "00006" "2021-04-23 18:13:50" "" "" "SEQ" "DNA" "" "" "0000364061" "00362833" "1" "00006" "00006" "2021-04-23 18:13:50" "" "" "SEQ" "DNA" "" "" "0000364062" "00362834" "1" "00006" "00006" "2021-04-23 18:13:50" "" "" "SEQ" "DNA" "" "" "0000364063" "00362835" "1" "00006" "00006" "2021-04-23 18:13:50" "" "" "SEQ" "DNA" "" "" "0000364064" "00362836" "1" "00006" "00006" "2021-04-23 18:13:50" "" "" "SEQ" "DNA" "" "" "0000364065" "00362837" "1" "00006" "00006" "2021-04-23 18:13:50" "" "" "SEQ" "DNA" "" "" "0000364066" "00362838" "1" "00006" "00006" "2021-04-23 18:13:50" "" "" "SEQ" "DNA" "" "" "0000364067" "00362839" "1" "00006" "00006" "2021-04-23 18:13:50" "" "" "SEQ" "DNA" "" "" "0000364068" "00362840" "1" "00006" "00006" "2021-04-23 18:13:50" "" "" "SEQ" "DNA" "" "" "0000364069" "00362841" "1" "00006" "00006" "2021-04-23 18:13:50" "" "" "SEQ" "DNA" "" "" "0000364070" "00362842" "1" "00006" "00006" "2021-04-23 18:13:50" "" "" "SEQ" "DNA" "" "" "0000364071" "00362843" "1" "00006" "00006" "2021-04-23 18:13:50" "" "" "SEQ" "DNA" "" "" "0000364072" "00362844" "1" "00006" "00006" "2021-04-23 18:13:50" "" "" "SEQ" "DNA" "" "" "0000364073" "00362845" "1" "00006" "00006" "2021-04-23 18:13:50" "" "" "SEQ" "DNA" "" "" "0000364074" "00362846" "1" "00006" "00006" "2021-04-23 18:13:50" "" "" "SEQ" "DNA" "" "" "0000364075" "00362847" "1" "00006" "00006" "2021-04-23 18:13:50" "" "" "SEQ" "DNA" "" "" "0000364076" "00362848" "1" "00006" "00006" "2021-04-23 18:13:50" "" "" "SEQ" "DNA" "" "" "0000364077" "00362849" "1" "00006" "00006" "2021-04-23 18:13:50" "" "" "SEQ" "DNA" "" "" "0000364078" "00362850" "1" "00006" "00006" "2021-04-23 18:13:50" "" "" "SEQ" "DNA" "" "" "0000364079" "00362851" "1" "00006" "00006" "2021-04-23 18:13:50" "" "" "SEQ" "DNA" "" "" "0000364080" "00362852" "1" "00006" "00006" "2021-04-23 18:13:50" "" "" "SEQ" "DNA" "" "" "0000364081" "00362853" "1" "00006" "00006" "2021-04-23 18:13:50" "" "" "SEQ" "DNA" "" "" "0000364082" "00362854" "1" "00006" "00006" "2021-04-23 18:13:50" "" "" "SEQ" "DNA" "" "" "0000364083" "00362855" "1" "00006" "00006" "2021-04-23 18:13:50" "" "" "SEQ" "DNA" "" "" "0000364084" "00362856" "1" "00006" "00006" "2021-04-23 18:13:50" "" "" "SEQ" "DNA" "" "" "0000364085" "00362857" "1" "00006" "00006" "2021-04-23 18:13:50" "" "" "SEQ" "DNA" "" "" "0000364086" "00362858" "1" "00006" "00006" "2021-04-23 18:13:50" "" "" "SEQ" "DNA" "" "" "0000364087" "00362859" "1" "00006" "00006" "2021-04-23 18:13:50" "" "" "SEQ" "DNA" "" "" "0000364088" "00362860" "1" "00006" "00006" "2021-04-23 18:13:50" "" "" "SEQ" "DNA" "" "" "0000364089" "00362861" "1" "00006" "00006" "2021-04-23 18:13:50" "" "" "SEQ" "DNA" "" "" "0000364090" "00362862" "1" "00006" "00006" "2021-04-23 18:13:50" "" "" "SEQ" "DNA" "" "" "0000364091" "00362863" "1" "00006" "00006" "2021-04-23 18:13:50" "" "" "SEQ" "DNA" "" "" "0000364092" "00362864" "1" "00006" "00006" "2021-04-23 18:13:50" "" "" "SEQ" "DNA" "" "" "0000364093" "00362865" "1" "00006" "00006" "2021-04-23 18:13:50" "" "" "SEQ" "DNA" "" "" "0000364094" "00362866" "1" "00006" "00006" "2021-04-23 18:13:50" "" "" "SEQ" "DNA" "" "" "0000364095" "00362867" "1" "00006" "00006" "2021-04-23 18:13:50" "" "" "SEQ" "DNA" "" "" "0000364096" "00362868" "1" "00006" "00006" "2021-04-23 18:13:50" "" "" "SEQ" "DNA" "" "" "0000364097" "00362869" "1" "00006" "00006" "2021-04-23 18:13:50" "" "" "SEQ" "DNA" "" "" "0000364098" "00362870" "1" "00006" "00006" "2021-04-23 18:13:50" "" "" "SEQ" "DNA" "" "" "0000364099" "00362871" "1" "00006" "00006" "2021-04-23 18:13:50" "" "" "SEQ" "DNA" "" "" "0000364394" "00363166" "1" "00006" "00006" "2021-04-25 12:00:25" "" "" "SEQ" "DNA" "" "" "0000364395" "00363167" "1" "00006" "00006" "2021-04-25 12:00:25" "" "" "SEQ" "DNA" "" "" "0000364396" "00363168" "1" "00006" "00006" "2021-04-25 12:00:25" "" "" "SEQ" "DNA" "" "" "0000364397" "00363169" "1" "00006" "00006" "2021-04-25 12:00:25" "" "" "SEQ" "DNA" "" "" "0000364398" "00363170" "1" "00006" "00006" "2021-04-25 12:00:25" "" "" "SEQ" "DNA" "" "" "0000364399" "00363171" "1" "00006" "00006" "2021-04-25 12:00:25" "" "" "SEQ" "DNA" "" "" "0000364400" "00363172" "1" "00006" "00006" "2021-04-25 12:00:25" "" "" "SEQ" "DNA" "" "" "0000364401" "00363173" "1" "00006" "00006" "2021-04-25 12:00:25" "" "" "SEQ" "DNA" "" "" "0000364402" "00363174" "1" "00006" "00006" "2021-04-25 12:00:25" "" "" "SEQ" "DNA" "" "" "0000364403" "00363175" "1" "00006" "00006" "2021-04-25 12:00:25" "" "" "SEQ" "DNA" "" "" "0000364404" "00363176" "1" "00006" "00006" "2021-04-25 12:00:25" "" "" "SEQ" "DNA" "" "" "0000364405" "00363177" "1" "00006" "00006" "2021-04-25 12:00:25" "" "" "SEQ" "DNA" "" "" "0000364406" "00363178" "1" "00006" "00006" "2021-04-25 12:00:25" "" "" "SEQ" "DNA" "" "" "0000364407" "00363179" "1" "00006" "00006" "2021-04-25 12:00:25" "" "" "SEQ" "DNA" "" "" "0000364408" "00363180" "1" "00006" "00006" "2021-04-25 12:00:25" "" "" "SEQ" "DNA" "" "" "0000364409" "00363181" "1" "00006" "00006" "2021-04-25 12:00:25" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000364410" "00363182" "1" "00006" "00006" "2021-04-25 12:00:25" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000364411" "00363183" "1" "00006" "00006" "2021-04-25 12:00:25" "" "" "SEQ" "DNA" "" "" "0000364412" "00363184" "1" "00006" "00006" "2021-04-25 12:00:25" "" "" "SEQ" "DNA" "" "" "0000364413" "00363185" "1" "00006" "00006" "2021-04-25 12:00:25" "" "" "SEQ" "DNA" "" "" "0000364414" "00363186" "1" "00006" "00006" "2021-04-25 12:00:25" "" "" "SEQ" "DNA" "" "" "0000364415" "00363187" "1" "00006" "00006" "2021-04-25 12:00:25" "" "" "SEQ" "DNA" "" "" "0000375648" "00374454" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000376016" "00374822" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000386753" "00385524" "1" "00000" "03840" "2021-10-12 17:40:23" "" "" "SEQ-NG" "DNA" "blood" "144 genes panel tested" "0000389052" "00387821" "1" "00006" "00006" "2021-10-31 12:02:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000416533" "00415251" "1" "00000" "03840" "2022-08-10 20:39:58" "" "" "SEQ-NG" "DNA" "" "exome sequencing done at a commercial CAPaccredited laboratory" "0000418126" "00416844" "1" "00000" "03840" "2022-09-08 10:25:47" "" "" "arraySNP;SEQ-NG-I;SEQ" "DNA" "" "" "0000446540" "00444971" "1" "00006" "00006" "2023-12-29 13:59:22" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000446622" "00445052" "1" "00006" "00006" "2024-01-02 15:26:57" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000446623" "00445053" "1" "00006" "00006" "2024-01-02 15:26:57" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000446624" "00445054" "1" "00006" "00006" "2024-01-02 15:26:57" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000455077" "00453463" "1" "03544" "03544" "2024-09-03 11:03:16" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "CES" "0000455099" "00453485" "1" "03544" "03544" "2024-09-06 13:56:32" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "CES" "0000470176" "00468509" "1" "00006" "00006" "2025-11-09 20:53:28" "00006" "2025-11-09 21:06:26" "SEQ;SEQ-NG" "DNA" "" "WES, WGS" "0000470941" "00469273" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000470942" "00469274" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000470943" "00469275" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000470944" "00469276" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000470945" "00469277" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000470946" "00469278" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000471701" "00470033" "1" "00006" "00006" "2025-11-25 19:19:02" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 76 "{{screeningid}}" "{{geneid}}" "0000081053" "RAB3GAP1" "0000081205" "RAB3GAP1" "0000308284" "RAB3GAP1" "0000333338" "RAB3GAP1" "0000333339" "RAB3GAP1" "0000333340" "RAB3GAP1" "0000364058" "RAB3GAP1" "0000364059" "RAB3GAP1" "0000364060" "RAB3GAP1" "0000364061" "RAB3GAP1" "0000364062" "RAB3GAP1" "0000364063" "RAB3GAP1" "0000364064" "RAB3GAP1" "0000364065" "RAB3GAP1" "0000364066" "RAB3GAP1" "0000364067" "RAB3GAP1" "0000364068" "RAB3GAP1" "0000364069" "RAB3GAP1" "0000364070" "RAB3GAP1" "0000364071" "RAB3GAP1" "0000364072" "RAB3GAP1" "0000364073" "RAB3GAP1" "0000364074" "RAB3GAP1" "0000364075" "RAB3GAP1" "0000364076" "RAB3GAP1" "0000364077" "RAB3GAP1" "0000364078" "RAB3GAP1" "0000364079" "RAB3GAP1" "0000364080" "RAB3GAP1" "0000364081" "RAB3GAP1" "0000364082" "RAB3GAP1" "0000364083" "RAB3GAP1" "0000364084" "RAB3GAP1" "0000364085" "RAB3GAP1" "0000364086" "RAB3GAP1" "0000364087" "RAB3GAP1" "0000364088" "RAB3GAP1" "0000364089" "RAB3GAP1" "0000364090" "RAB3GAP1" "0000364091" "RAB3GAP1" "0000364092" "RAB3GAP1" "0000364093" "RAB3GAP1" "0000364094" "RAB3GAP1" "0000364095" "RAB3GAP1" "0000364096" "RAB3GAP1" "0000364097" "RAB3GAP1" "0000364098" "RAB3GAP1" "0000364099" "RAB3GAP1" "0000364394" "RAB3GAP1" "0000364395" "RAB3GAP1" "0000364396" "RAB3GAP1" "0000364397" "RAB3GAP1" "0000364398" "RAB3GAP1" "0000364399" "RAB3GAP1" "0000364400" "RAB3GAP1" "0000364401" "RAB3GAP1" "0000364402" "RAB3GAP1" "0000364403" "RAB3GAP1" "0000364404" "RAB3GAP1" "0000364405" "RAB3GAP1" "0000364406" "RAB3GAP1" "0000364407" "RAB3GAP1" "0000364408" "RAB3GAP1" "0000364409" "RAB3GAP1" "0000364410" "RAB3GAP1" "0000364411" "RAB3GAP1" "0000364412" "RAB3GAP1" "0000364413" "RAB3GAP1" "0000364414" "RAB3GAP1" "0000364415" "RAB3GAP1" "0000375648" "RAB3GAP1" "0000376016" "RAB3GAP1" "0000386753" "RAB3GAP1" "0000389052" "RAB3GAP1" "0000416533" "RAB3GAP1" "0000418126" "RAB3GAP1" ## 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 = 155 "{{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}}" "0000086607" "3" "70" "2" "135870833" "135870836" "del" "4.06098E-6" "01494" "RAB3GAP1_000009" "g.135870833_135870836del" "1/38 patients" "{PMID:Rump 2016:26846091}" "" "" "Aligianis et al 2005" "Germline" "yes" "" "0" "" "" "g.135113263_135113266del" "" "likely pathogenic" "" "0000130139" "3" "70" "2" "135872862" "135872862" "subst" "8.12301E-6" "01758" "RAB3GAP1_000011" "g.135872862C>T" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "Germline" "" "" "0" "" "" "g.135115292C>T" "" "likely pathogenic" "ACMG" "0000130291" "3" "90" "2" "135883820" "135883820" "subst" "2.03343E-5" "01758" "RAB3GAP1_000010" "g.135883820G>A" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "Germline" "" "" "0" "" "" "g.135126250G>A" "" "pathogenic" "ACMG" "0000248000" "0" "10" "2" "135893372" "135893372" "subst" "0.204229" "02325" "RAB3GAP1_000033" "g.135893372A>G" "" "" "" "RAB3GAP1(NM_001172435.1):c.1793A>G (p.N598S), RAB3GAP1(NM_001172435.2):c.1793A>G (p.N598S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.135135802A>G" "" "benign" "" "0000253261" "0" "10" "2" "135893372" "135893372" "subst" "0.204229" "01943" "RAB3GAP1_000033" "g.135893372A>G" "" "" "" "RAB3GAP1(NM_001172435.1):c.1793A>G (p.N598S), RAB3GAP1(NM_001172435.2):c.1793A>G (p.N598S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.135135802A>G" "" "benign" "" "0000253678" "0" "10" "2" "135887632" "135887632" "subst" "0.00297082" "01943" "RAB3GAP1_000021" "g.135887632A>G" "" "" "" "RAB3GAP1(NM_001172435.1):c.1041A>G (p.R347=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.135130062A>G" "" "benign" "" "0000253746" "0" "10" "2" "135891623" "135891623" "subst" "4.06941E-5" "01943" "RAB3GAP1_000035" "g.135891623A>G" "" "" "" "RAB3GAP1(NM_001172435.1):c.1499+20A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.135134053A>G" "" "benign" "" "0000254301" "0" "30" "2" "135907947" "135907947" "subst" "0" "01943" "RAB3GAP1_000023" "g.135907947A>G" "" "" "" "RAB3GAP1(NM_001172435.1):c.1932A>G (p.A644=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.135150377A>G" "" "likely benign" "" "0000254532" "0" "30" "2" "135884166" "135884166" "subst" "0.00878547" "01943" "RAB3GAP1_000019" "g.135884166A>G" "" "" "" "RAB3GAP1(NM_001172435.1):c.913A>G (p.I305V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.135126596A>G" "" "likely benign" "" "0000256694" "0" "50" "2" "135809899" "135809899" "subst" "0.000369519" "01943" "RAB3GAP1_000012" "g.135809899A>G" "" "" "" "RAB3GAP1(NM_001172435.1):c.18+4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.135052329A>G" "" "VUS" "" "0000297527" "0" "50" "2" "135893270" "135893270" "subst" "0" "02325" "RAB3GAP1_000022" "g.135893270C>G" "" "" "" "RAB3GAP1(NM_001172435.2):c.1691C>G (p.T564R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.135135700C>G" "" "VUS" "" "0000297528" "0" "10" "2" "135911422" "135911422" "subst" "0.517524" "02325" "RAB3GAP1_000025" "g.135911422T>C" "" "" "" "RAB3GAP1(NM_001172435.1):c.2265T>C (p.F755=), RAB3GAP1(NM_001172435.2):c.2265T>C (p.F755=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.135153852T>C" "" "benign" "" "0000306665" "0" "50" "2" "135887597" "135887597" "subst" "0.00434284" "01943" "RAB3GAP1_000020" "g.135887597C>T" "" "" "" "RAB3GAP1(NM_001172435.1):c.1006C>T (p.R336C), RAB3GAP1(NM_012233.2):c.1006C>T (p.(Arg336Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.135130027C>T" "" "VUS" "" "0000306666" "0" "30" "2" "135848585" "135848585" "subst" "4.06421E-6" "01943" "RAB3GAP1_000013" "g.135848585C>T" "" "" "" "RAB3GAP1(NM_001172435.1):c.168C>T (p.G56=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.135091015C>T" "" "likely benign" "" "0000306667" "0" "30" "2" "135908007" "135908007" "subst" "0.00724532" "01943" "RAB3GAP1_000024" "g.135908007G>A" "" "" "" "RAB3GAP1(NM_001172435.1):c.1992G>A (p.S664=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.135150437G>A" "" "likely benign" "" "0000306668" "0" "10" "2" "135911422" "135911422" "subst" "0.517524" "01943" "RAB3GAP1_000025" "g.135911422T>C" "" "" "" "RAB3GAP1(NM_001172435.1):c.2265T>C (p.F755=), RAB3GAP1(NM_001172435.2):c.2265T>C (p.F755=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.135153852T>C" "" "benign" "" "0000306669" "0" "10" "2" "135920108" "135920108" "subst" "0.0340663" "01943" "RAB3GAP1_000026" "g.135920108C>T" "" "" "" "RAB3GAP1(NM_001172435.1):c.2290-17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.135162538C>T" "" "benign" "" "0000306670" "0" "30" "2" "135920394" "135920394" "subst" "0.00932672" "01943" "RAB3GAP1_000028" "g.135920394C>T" "" "" "" "RAB3GAP1(NM_001172435.1):c.2463C>T (p.F821=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.135162824C>T" "" "likely benign" "" "0000306671" "0" "30" "2" "135920683" "135920683" "subst" "0" "01943" "RAB3GAP1_000029" "g.135920683T>G" "" "" "" "RAB3GAP1(NM_001172435.1):c.2606+12T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.135163113T>G" "" "likely benign" "" "0000306672" "0" "30" "2" "135925292" "135925294" "del" "0" "01943" "RAB3GAP1_000030" "g.135925292_135925294del" "" "" "" "RAB3GAP1(NM_001172435.1):c.2730+9_2730+11delATA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.135167722_135167724del" "" "likely benign" "" "0000306673" "0" "50" "2" "135926205" "135926205" "subst" "0.000905849" "01943" "RAB3GAP1_000031" "g.135926205C>G" "" "" "" "RAB3GAP1(NM_001172435.1):c.2821C>G (p.P941A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.135168635C>G" "" "VUS" "" "0000306674" "0" "30" "2" "135870769" "135870769" "subst" "0.000763464" "01943" "RAB3GAP1_000016" "g.135870769C>T" "" "" "" "RAB3GAP1(NM_001172435.1):c.411C>T (p.D137=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.135113199C>T" "" "likely benign" "" "0000306675" "0" "10" "2" "135878409" "135878409" "subst" "0.00167342" "01943" "RAB3GAP1_000017" "g.135878409G>T" "" "" "" "RAB3GAP1(NM_001172435.1):c.669G>T (p.L223F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.135120839G>T" "" "benign" "" "0000306676" "0" "90" "2" "135878489" "135878489" "subst" "0" "01943" "RAB3GAP1_000018" "g.135878489G>A" "" "" "" "RAB3GAP1(NM_001172435.1):c.748+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.135120919G>A" "" "pathogenic" "" "0000327251" "0" "50" "2" "135920152" "135920152" "subst" "0" "01804" "RAB3GAP1_000027" "g.135920152C>T" "" "" "" "RAB3GAP1(NM_001172435.1):c.2317C>T (p.(Pro773Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.135162582C>T" "" "VUS" "" "0000337172" "0" "90" "2" "135883820" "135883820" "subst" "2.03343E-5" "02327" "RAB3GAP1_000010" "g.135883820G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.135126250G>A" "" "pathogenic" "" "0000340713" "0" "30" "2" "135870769" "135870769" "subst" "0.000763464" "02327" "RAB3GAP1_000016" "g.135870769C>T" "" "" "" "RAB3GAP1(NM_001172435.1):c.411C>T (p.D137=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.135113199C>T" "" "likely benign" "" "0000340889" "0" "10" "2" "135911422" "135911422" "subst" "0.517524" "02327" "RAB3GAP1_000025" "g.135911422T>C" "" "" "" "RAB3GAP1(NM_001172435.1):c.2265T>C (p.F755=), RAB3GAP1(NM_001172435.2):c.2265T>C (p.F755=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.135153852T>C" "" "benign" "" "0000342695" "0" "90" "2" "135887630" "135887630" "subst" "3.25166E-5" "02327" "RAB3GAP1_000032" "g.135887630C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.135130060C>T" "" "pathogenic" "" "0000343799" "0" "10" "2" "135893372" "135893372" "subst" "0.204229" "02327" "RAB3GAP1_000033" "g.135893372A>G" "" "" "" "RAB3GAP1(NM_001172435.1):c.1793A>G (p.N598S), RAB3GAP1(NM_001172435.2):c.1793A>G (p.N598S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.135135802A>G" "" "benign" "" "0000346674" "0" "10" "2" "135884166" "135884166" "subst" "0.00878547" "02327" "RAB3GAP1_000019" "g.135884166A>G" "" "" "" "RAB3GAP1(NM_001172435.1):c.913A>G (p.I305V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.135126596A>G" "" "benign" "" "0000350899" "0" "90" "2" "135878489" "135878489" "subst" "0" "02327" "RAB3GAP1_000018" "g.135878489G>A" "" "" "" "RAB3GAP1(NM_001172435.1):c.748+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.135120919G>A" "" "pathogenic" "" "0000509254" "0" "90" "2" "135887600" "135887600" "subst" "1.22029E-5" "02327" "RAB3GAP1_000037" "g.135887600C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.135130030C>T" "" "pathogenic" "" "0000509255" "0" "30" "2" "135890489" "135890489" "subst" "0" "01943" "RAB3GAP1_000038" "g.135890489G>A" "" "" "" "RAB3GAP1(NM_001172435.1):c.1261G>A (p.E421K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.135132919G>A" "" "likely benign" "" "0000509256" "0" "30" "2" "135890496" "135890496" "subst" "0.000549223" "01943" "RAB3GAP1_000039" "g.135890496C>G" "" "" "" "RAB3GAP1(NM_001172435.1):c.1268C>G (p.P423R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.135132926C>G" "" "likely benign" "" "0000509257" "0" "50" "2" "135893426" "135893426" "subst" "0" "02327" "RAB3GAP1_000040" "g.135893426C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.135135856C>T" "" "VUS" "" "0000509259" "0" "50" "2" "135920587" "135920587" "subst" "0" "01943" "RAB3GAP1_000042" "g.135920587C>T" "" "" "" "RAB3GAP1(NM_001172435.1):c.2522C>T (p.A841V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.135163017C>T" "" "VUS" "" "0000509260" "0" "50" "2" "135926242" "135926242" "subst" "2.84336E-5" "01943" "RAB3GAP1_000043" "g.135926242C>T" "" "" "" "RAB3GAP1(NM_001172435.1):c.2858C>T (p.P953L), RAB3GAP1(NM_012233.3):c.2837C>T (p.(Pro946Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.135168672C>T" "" "VUS" "" "0000620730" "0" "30" "2" "135893343" "135893343" "subst" "2.03434E-5" "01943" "RAB3GAP1_000044" "g.135893343C>T" "" "" "" "RAB3GAP1(NM_001172435.1):c.1764C>T (p.C588=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.135135773C>T" "" "likely benign" "" "0000650104" "1" "10" "2" "135884166" "135884166" "subst" "0.00878547" "03575" "RAB3GAP1_000019" "g.135884166A>G" "89/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "89 heterozygous, no homozygous; {DB:CLININrs116775947}" "Germline" "" "rs116775947" "0" "" "" "g.135126596A>G" "" "benign" "" "0000675189" "3" "90" "2" "135848563" "135848563" "subst" "0" "03388" "RAB3GAP1_000045" "g.135848563T>G" "" "" "XapI-" "" "" "Somatic" "yes" "" "" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000676014" "0" "50" "2" "135911339" "135911339" "subst" "4.06848E-6" "01943" "RAB3GAP1_000046" "g.135911339C>T" "" "" "" "RAB3GAP1(NM_001172435.1):c.2182C>T (p.R728W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000676015" "0" "30" "2" "135922203" "135922203" "subst" "8.1318E-6" "01943" "RAB3GAP1_000047" "g.135922203C>T" "" "" "" "RAB3GAP1(NM_001172435.1):c.2646C>T (p.V882=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000688321" "0" "30" "2" "135893206" "135893206" "subst" "0" "01943" "RAB3GAP1_000048" "g.135893206A>G" "" "" "" "RAB3GAP1(NM_001172435.1):c.1627A>G (p.N543D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717838" "0" "50" "2" "135870800" "135870800" "subst" "0" "01943" "RAB3GAP1_000049" "g.135870800C>T" "" "" "" "RAB3GAP1(NM_001172435.1):c.442C>T (p.L148F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000717839" "0" "90" "2" "135872823" "135872823" "subst" "1.21921E-5" "02329" "RAB3GAP1_000036" "g.135872823C>T" "" "" "" "RAB3GAP1(NM_001172435.2):c.520C>T (p.R174*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000730909" "3" "90" "2" "135887600" "135887600" "subst" "1.22029E-5" "00000" "RAB3GAP1_000037" "g.135887600C>T" "" "{PMID:Patel 2017:29450879}" "" "" "" "Germline" "" "" "0" "" "" "g.135130030C>T" "" "pathogenic (recessive)" "" "0000730910" "3" "90" "2" "135883820" "135883820" "subst" "2.03343E-5" "00000" "RAB3GAP1_000010" "g.135883820G>A" "" "{PMID:Patel 2017:29450879}" "" "" "" "Germline" "" "" "0" "" "" "g.135126250G>A" "" "pathogenic (recessive)" "" "0000730911" "3" "90" "2" "135926114" "135926114" "subst" "0" "00000" "RAB3GAP1_000050" "g.135926114G>A" "" "{PMID:Patel 2017:29450879}" "" "NM_012233.2:c.2710-1G>A" "ACMG PVS1, PM2, PP1" "Germline" "" "" "0" "" "" "g.135168544G>A" "" "pathogenic (recessive)" "ACMG" "0000764812" "3" "90" "2" "135810033" "135810033" "subst" "0" "00006" "RAB3GAP1_000053" "g.135810033A>C" "" "{PMID:Handley 2013:23420520}" "" "" "" "Germline" "" "" "0" "" "" "g.135052463A>C" "" "pathogenic (recessive)" "" "0000764813" "3" "90" "2" "135810033" "135810033" "subst" "0" "00006" "RAB3GAP1_000053" "g.135810033A>C" "" "{PMID:Handley 2013:23420520}" "" "" "" "Germline" "" "" "0" "" "" "g.135052463A>C" "" "pathogenic (recessive)" "" "0000764814" "3" "90" "2" "135810033" "135810033" "subst" "0" "00006" "RAB3GAP1_000053" "g.135810033A>C" "" "{PMID:Handley 2013:23420520}" "" "" "" "Germline" "" "" "0" "" "" "g.135052463A>C" "" "pathogenic (recessive)" "" "0000764815" "3" "90" "2" "135810033" "135810033" "subst" "0" "00006" "RAB3GAP1_000053" "g.135810033A>C" "" "{PMID:Handley 2013:23420520}" "" "" "" "Germline" "" "" "0" "" "" "g.135052463A>C" "" "pathogenic (recessive)" "" "0000764816" "3" "90" "2" "135810033" "135810033" "subst" "0" "00006" "RAB3GAP1_000053" "g.135810033A>C" "" "{PMID:Handley 2013:23420520}" "" "" "" "Germline" "" "" "0" "" "" "g.135052463A>C" "" "pathogenic (recessive)" "" "0000764817" "3" "90" "2" "135810052" "135810052" "subst" "0" "00006" "RAB3GAP1_000055" "g.135810052A>T" "" "{PMID:Handley 2013:23420520}" "" "" "" "Germline" "" "" "0" "" "" "g.135052482A>T" "" "pathogenic (recessive)" "" "0000764818" "3" "90" "2" "135809886" "135809886" "del" "0" "00006" "RAB3GAP1_000052" "g.135809886del" "" "{PMID:Handley 2013:23420520}" "" "9delC" "" "Germline" "" "" "0" "" "" "g.135052316del" "" "pathogenic (recessive)" "" "0000764819" "3" "90" "2" "135878405" "135878405" "del" "0" "00006" "RAB3GAP1_000068" "g.135878405del" "" "{PMID:Handley 2013:23420520}" "" "665delC" "" "Germline" "" "" "0" "" "" "g.135120835del" "" "pathogenic (recessive)" "" "0000764820" "3" "90" "2" "135891521" "135891527" "del" "0" "00006" "RAB3GAP1_000080" "g.135891521_135891527del" "" "{PMID:Handley 2013:23420520}" "" "1417_1423delGGGTTGA" "" "Germline" "" "" "0" "" "" "g.135133951_135133957del" "" "pathogenic (recessive)" "" "0000764821" "3" "90" "2" "135891439" "135891439" "del" "0" "00006" "RAB3GAP1_000076" "g.135891439del" "" "{PMID:Handley 2013:23420520}" "" "1335delC" "" "Germline" "" "" "0" "" "" "g.135133869del" "" "pathogenic (recessive)" "" "0000764822" "3" "90" "2" "135815588" "135815588" "del" "0" "00006" "RAB3GAP1_000056" "g.135815588del" "" "{PMID:Handley 2013:23420520}" "" "82delT" "" "Germline" "" "" "0" "" "" "g.135058018del" "" "pathogenic (recessive)" "" "0000764823" "3" "90" "2" "135926249" "135926250" "ins" "0" "00006" "RAB3GAP1_000092" "g.135926249_135926250insTCTT" "" "{PMID:Handley 2013:23420520}" "" "2865_2868insTTCT" "" "Germline" "" "" "0" "" "" "g.135168679_135168680insTCTT" "" "pathogenic (recessive)" "" "0000764824" "3" "90" "2" "135920178" "135920182" "del" "0" "00006" "RAB3GAP1_000088" "g.135920178_135920182del" "" "{PMID:Handley 2013:23420520}" "" "2343_2347delACCTT" "" "Germline" "" "" "0" "" "" "g.135162608_135162612del" "" "pathogenic (recessive)" "" "0000764825" "3" "90" "2" "135890521" "135890522" "del" "0" "00006" "RAB3GAP1_000074" "g.135890521_135890522del" "" "{PMID:Handley 2013:23420520}" "" "1293_1294delTA" "" "Germline" "" "" "0" "" "" "g.135132951_135132952del" "" "pathogenic (recessive)" "" "0000764826" "3" "90" "2" "135815637" "135815637" "del" "0" "00006" "RAB3GAP1_000057" "g.135815637del" "" "{PMID:Handley 2013:23420520}" "" "129delT" "" "Germline" "" "" "0" "" "" "g.135058067del" "" "pathogenic (recessive)" "" "0000764827" "3" "90" "2" "0" "0" "" "0" "00006" "SNRNP200_000007" "g.?" "" "{PMID:Handley 2013:23420520}" "" "del ex1-4" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000764828" "3" "90" "2" "0" "0" "" "0" "00006" "SNRNP200_000007" "g.?" "" "{PMID:Handley 2013:23420520}" "" "del ex4-5" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000764829" "3" "90" "2" "0" "0" "" "0" "00006" "SNRNP200_000007" "g.?" 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"RAB3GAP1_000060" "g.135848681_135848687delinsTTATTA" "" "{PMID:Morris-Rosendahl 2010:20512159}" "" "" "" "Germline" "" "" "0" "" "" "g.135091111_135091117delinsTTATTA" "" "pathogenic (recessive)" "" "0000765195" "3" "90" "2" "135878489" "135878489" "subst" "0" "00006" "RAB3GAP1_000018" "g.135878489G>A" "" "{PMID:Yuksel 2007:17351351}" "" "" "" "Germline" "" "" "0" "" "" "g.135120919G>A" "" "pathogenic (recessive)" "" "0000786999" "3" "70" "2" "135810009" "135810009" "subst" "0" "00006" "RAB3GAP1_000093" "g.135810009G>T" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.135052439G>T" "" "likely pathogenic" "" "0000787367" "3" "50" "2" "0" "0" "" "0" "00006" "SNRNP200_000007" "g.?" "" "{PMID:Ganapathy 2019:31069529}" "" "c.2894_2895delAA (Lys965ArgfsTer4)" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000799665" "0" "30" "2" "135815665" "135815665" "subst" "0" "01943" "RAB3GAP1_000094" "g.135815665T>C" "" "" "" "RAB3GAP1(NM_001172435.1):c.150+9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000799666" "0" "50" "2" "135888262" "135888262" "subst" "0" "01943" "RAB3GAP1_000095" "g.135888262A>T" "" "" "" "RAB3GAP1(NM_001172435.1):c.1207A>T (p.N403Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000799667" "0" "30" "2" "135893177" "135893177" "subst" "0" "01943" "RAB3GAP1_000096" "g.135893177G>A" "" "" "" "RAB3GAP1(NM_001172435.1):c.1598G>A (p.G533E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000814433" "3" "90" "2" "135891521" "135891527" "del" "0" "00000" "RAB3GAP1_000080" "g.135891521_135891527del" "" "{PMID:Lenassi 2020:31848469}" "" "RAB3GAP1 c.1417_1423del p.(Gly473LysfsTer23) hom" "homozygous" "Germline" "?" "" "0" "" "" "g.135133951_135133957del" "" "pathogenic" "ACMG" "0000817845" "3" "50" "2" "135892885" "135892885" "subst" "0" "00006" "RAB3GAP1_000097" "g.135892885T>C" "" "{PMID:Hu 2019:29302074}" "" "" "" "Germline" "" "" "0" "" "" "g.135135315T>C" "" "VUS" "ACMG" "0000848949" "0" "30" "2" "135848657" "135848657" "subst" "7.31654E-5" "01943" "RAB3GAP1_000099" "g.135848657A>C" "" "" "" "RAB3GAP1(NM_001172435.1):c.240A>C (p.V80=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000848950" "0" "70" "2" "135848675" "135848678" "del" "0" "01943" "RAB3GAP1_000100" "g.135848675_135848678del" "" "" "" "RAB3GAP1(NM_001172435.1):c.258_261delAGAA (p.G88Rfs*5)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000857695" "0" "30" "2" "135809886" "135809886" "subst" "1.21821E-5" "01943" "RAB3GAP1_000098" "g.135809886C>T" "" "" "" "RAB3GAP1(NM_001172435.1):c.9C>T (p.A3=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000874661" "3" "70" "2" "135887600" "135887600" "subst" "1.22029E-5" "00000" "RAB3GAP1_000037" "g.135887600C>T" "frequency in 1500 in-house samples: 0" "{PMID:Alfares 2018:30202406}" "" "RAB3GAP1, NM_001172435.1, c.1009C>T, p.Arg337*" "homozygous" "Unknown" "?" "" "0" "" "" "g.135130030C>T" "" "likely pathogenic" "ACMG" "0000877869" "3" "70" "2" "135870833" "135870836" "del" "4.06098E-6" "00000" "RAB3GAP1_000009" "g.135870833_135870836del" "" "{PMID:Rump 2016:26846091}" "" "RAB3GAP1 c.475_478delACTG, p.T159Afs*19" "homozygous" "Unknown" "?" "" "0" "" "" "g.135113263_135113266del" "" "likely pathogenic" "" "0000954884" "3" "90" "2" "135887600" "135887600" "subst" "1.22029E-5" "00006" "RAB3GAP1_000037" "g.135887600C>T" "" "{PMID:Patel 2017:27878435}" "" "" "" "Germline" "yes" "" "0" "" "" "g.135130030C>T" "" "pathogenic (recessive)" "" "0000954975" "1" "90" "2" "135887630" "135887630" "subst" "3.25166E-5" "00006" "RAB3GAP1_000032" "g.135887630C>T" "" "{PMID:Kessel 2021:34169787}" "" "" "ACMG PSV1, PS4sup,PM2" "Germline" "" "" "0" "" "" "g.135130060C>T" "VCV000545410.1" "pathogenic (recessive)" "" "0000954976" "3" "90" "2" "135891439" "135891439" "del" "0" "00006" "RAB3GAP1_000076" "g.135891439del" "" "{PMID:Kessel 2021:34169787}" "" "1335delC" "ACMG PSV1, PS4sup,PM2" "Germline" "" "" "0" "" "" "g.135133869del" "" "pathogenic (recessive)" "" "0000954977" "3" "90" "2" "135891514" "135891514" "subst" "0" "00006" "RAB3GAP1_000079" "g.135891514C>A" "" "{PMID:Kessel 2021:34169787}" "" "" "ACMG PSV1, PS4sup,PM2" "Germline" "" "" "0" "" "" "g.135133944C>A" "VCV000007061.1" "pathogenic (recessive)" "" "0000955001" "2" "90" "2" "135908052" "135908070" "dup" "0" "00006" "RAB3GAP1_000086" "g.135908052_135908070dup" "" "{PMID:Kessel 2021:34169787}" "" "2037_2055dup19" "ACMG PSV1, PS4sup,PM2" "Germline" "" "" "0" "" "" "g.135150482_135150500dup" "VCV000100770.1" "pathogenic (recessive)" "" "0000974291" "0" "50" "2" "135883827" "135883827" "subst" "9.76253E-5" "01804" "RAB3GAP1_000101" "g.135883827T>G" "" "" "" "RAB3GAP1(NM_012233.3):c.899+8T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000974292" "0" "50" "2" "135926242" "135926242" "subst" "2.84336E-5" "01804" "RAB3GAP1_000043" "g.135926242C>T" "" "" "" "RAB3GAP1(NM_001172435.1):c.2858C>T (p.P953L), RAB3GAP1(NM_012233.3):c.2837C>T (p.(Pro946Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000991622" "0" "30" "2" "135887597" "135887597" "subst" "0.00434284" "01804" "RAB3GAP1_000020" "g.135887597C>T" "" "" "" "RAB3GAP1(NM_001172435.1):c.1006C>T (p.R336C), RAB3GAP1(NM_012233.2):c.1006C>T (p.(Arg336Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001007061" "0" "70" "2" "135908052" "135908070" "dup" "0" "03544" "RAB3GAP1_000086" "g.135908052_135908070dup" "" "" "" "" "" "Germline" "yes" "rs587777153" "0" "" "" "g.135150482_135150500dup" "{CV:100770}" "likely pathogenic" "ACMG" "0001007062" "0" "90" "2" "135883820" "135883820" "subst" "2.03343E-5" "03544" "RAB3GAP1_000010" "g.135883820G>A" "" "" "" "" "" "Germline" "yes" "rs587777152" "0" "" "" "g.135126250G>A" "{CV:100769}" "pathogenic" "ACMG" "0001007102" "11" "90" "2" "135815626" "135815626" "del" "0" "03544" "RAB3GAP1_000102" "g.135815626del" "" "" "" "119del" "" "Germline" "yes" "" "0" "" "" "g.135058056del" "{CV:3378402}" "pathogenic" "ACMG" "0001007103" "21" "90" "2" "135891485" "135891485" "del" "0" "03544" "RAB3GAP1_000103" "g.135891485del" "" "" "" "1380del" "" "Germline" "yes" "" "0" "" "" "g.135133915del" "{CV:3378403}" "pathogenic" "ACMG" "0001032370" "0" "30" "2" "135926111" "135926111" "subst" "0" "01804" "RAB3GAP1_000104" "g.135926111C>T" "" "" "" "RAB3GAP1(NM_012233.3):c.2710-4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001050803" "0" "70" "2" "135911323" "135911323" "del" "0" "01804" "RAB3GAP1_000105" "g.135911323del" "" "" "" "RAB3GAP1(NM_012233.3):c.2166del (p.(Gly723Glufs*3))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001058263" "11" "90" "2" "135848595" "135848599" "del" "0" "00006" "RAB3GAP1_000106" "g.135848595_135848599del" "" "{PMID:Wang 2022:36553631}, {PMID:Wang 2024:38184101}" "" "NM_012233" "ACMG PVS1, PM2_sup, PM3, PP4" "Germline" "" "" "0" "" "" "g.135091025_135091029del" "" "pathogenic (recessive)" "ACMG" "0001058287" "21" "70" "2" "135888415" "135895985" "del" "0" "00006" "RAB3GAP1_000107" "g.135888415_135895985del" "" "{PMID:Wang 2022:36553631}, {PMID:Wang 2024:38184101}" "" "hg19 Chr2:135888415-135895985del (ex14-17)" "" "Germline" "" "" "0" "" "" "g.135130845_135138415del" "" "VUS" "" "0001059063" "0" "90" "2" "135922201" "135922201" "del" "0" "00006" "RAB3GAP1_000109" "g.135922201del" "" "{PMID:Retterer 2016:26633542}" "" "2644delG" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.135164631del" "" "pathogenic" "" "0001059064" "0" "90" "2" "135920178" "135920182" "del" "0" "00006" "RAB3GAP1_000088" "g.135920178_135920182del" "" "{PMID:Retterer 2016:26633542}" "" "2343_2347delACCTT" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.135162608_135162612del" "" "pathogenic" "" "0001059065" "0" "90" "2" "135920348" "135920348" "del" "0" "00006" "RAB3GAP1_000108" "g.135920348del" "" "{PMID:Retterer 2016:26633542}" "" "2417delA" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.135162778del" "" "pathogenic" "" "0001059066" "0" "90" "2" "135926328" "135926328" "dup" "0" "00006" "RAB3GAP1_000110" "g.135926328dup" "" "{PMID:Retterer 2016:26633542}" "" "2942dup" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.135168758dup" "" "pathogenic" "" "0001059067" "0" "90" "2" "135908052" "135908070" "dup" "0" "00006" "RAB3GAP1_000086" "g.135908052_135908070dup" "" "{PMID:Retterer 2016:26633542}" "" "2037_2055dup19" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.135150482_135150500dup" "" "pathogenic" "" "0001059068" "0" "90" "2" "135891575" "135891575" "subst" "1.21874E-5" "00006" "RAB3GAP1_000081" "g.135891575C>T" "" "{PMID:Retterer 2016:26633542}" "" "" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.135134005C>T" "" "pathogenic" "" "0001059925" "3" "50" "2" "135926258" "135926258" "subst" "0" "00006" "RAB3GAP1_000111" "g.135926258C>G" "" "{PMID:Lecca 2024:38840272}" "" "" "ACMG PVS1_M, PM2_P, PP4_P" "Germline" "" "" "0" "" "" "g.135168688C>G" "" "VUS" "ACMG" ## 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 RAB3GAP1 ## Count = 213 "{{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}}" "0000086607" "00001773" "70" "475" "0" "478" "0" "c.475_478del" "r.(?)" "p.(Thr159Alafs*19)" "6" "0000130139" "00025736" "70" "559" "0" "559" "0" "c.559C>T" "r.(?)" "p.(Arg187*)" "" "0000130139" "00001773" "70" "559" "0" "559" "0" "c.559C>T" "r.(?)" "p.(Arg187*)" "" "0000130291" "00025736" "90" "899" "1" "899" "1" "c.899+1G>A" "r.spl?" "p.?" "" "0000130291" "00001773" "90" "899" "1" "899" "1" "c.899+1G>A" "r.spl?" "p.?" "" "0000248000" "00025736" "10" "1793" "0" "1793" "0" "c.1793A>G" "r.(?)" "p.(Asn598Ser)" "" "0000248000" "00001773" "10" "1793" "0" "1793" "0" "c.1793A>G" "r.(?)" "p.(Asn598Ser)" "" "0000253261" "00025736" "10" "1793" "0" "1793" "0" "c.1793A>G" "r.(?)" "p.(Asn598Ser)" "" "0000253261" "00001773" "10" "1793" "0" "1793" "0" "c.1793A>G" "r.(?)" "p.(Asn598Ser)" "" "0000253678" "00025736" "10" "1041" "0" "1041" "0" "c.1041A>G" "r.(?)" "p.(Arg347=)" "" "0000253678" "00001773" "10" "1041" "0" "1041" "0" "c.1041A>G" "r.(?)" "p.(Arg347=)" "" "0000253746" "00025736" "10" "1499" "20" "1499" "20" "c.1499+20A>G" "r.(=)" "p.(=)" "" "0000253746" "00001773" "10" "1499" "20" "1499" "20" "c.1499+20A>G" "r.(=)" "p.(=)" "" "0000254301" "00025736" "30" "1932" "0" "1932" "0" "c.1932A>G" "r.(?)" "p.(Ala644=)" "" "0000254301" "00001773" "30" "1932" "0" "1932" "0" "c.1932A>G" "r.(?)" "p.(Ala644=)" "" "0000254532" "00025736" "30" "913" "0" "913" "0" "c.913A>G" "r.(?)" "p.(Ile305Val)" "" "0000254532" "00001773" "30" "913" "0" "913" "0" "c.913A>G" "r.(?)" "p.(Ile305Val)" "" "0000256694" "00025736" "50" "18" "4" "18" "4" "c.18+4A>G" "r.spl?" "p.?" "" "0000256694" "00001773" "50" "18" "4" "18" "4" "c.18+4A>G" "r.spl?" "p.?" "" "0000297527" "00025736" "50" "1691" "0" "1691" "0" "c.1691C>G" "r.(?)" "p.(Thr564Arg)" "" "0000297527" "00001773" "50" "1691" "0" "1691" "0" "c.1691C>G" "r.(?)" "p.(Thr564Arg)" "" "0000297528" "00025736" "10" "2265" "0" "2265" "0" "c.2265T>C" "r.(?)" "p.(Phe755=)" "" "0000297528" "00001773" "10" "2265" "0" "2265" "0" "c.2265T>C" "r.(?)" "p.(Phe755=)" "" "0000306665" "00025736" "50" "1006" "0" "1006" "0" "c.1006C>T" "r.(?)" "p.(Arg336Cys)" "" "0000306665" "00001773" "50" "1006" "0" "1006" "0" "c.1006C>T" "r.(?)" "p.(Arg336Cys)" "" "0000306666" "00025736" "30" "168" "0" "168" "0" "c.168C>T" "r.(?)" "p.(Gly56=)" "" "0000306666" "00001773" "30" "168" "0" "168" "0" "c.168C>T" "r.(?)" "p.(Gly56=)" "" "0000306667" "00025736" "30" "1992" "0" "1992" "0" "c.1992G>A" "r.(?)" "p.(Ser664=)" "" "0000306667" "00001773" "30" "1992" "0" "1992" "0" "c.1992G>A" "r.(?)" "p.(Ser664=)" "" "0000306668" "00025736" "10" "2265" "0" "2265" "0" "c.2265T>C" "r.(?)" "p.(Phe755=)" "" "0000306668" "00001773" "10" "2265" "0" "2265" "0" "c.2265T>C" "r.(?)" "p.(Phe755=)" "" "0000306669" "00025736" "10" "2290" "-17" "2290" "-17" "c.2290-17C>T" "r.(=)" "p.(=)" "" "0000306669" "00001773" "10" "2290" "-17" "2290" "-17" "c.2290-17C>T" "r.(=)" "p.(=)" "" "0000306670" "00025736" "30" "2463" "0" "2463" "0" "c.2463C>T" "r.(?)" "p.(Phe821=)" "" "0000306670" "00001773" "30" "2463" "0" "2463" "0" "c.2463C>T" "r.(?)" "p.(Phe821=)" "" "0000306671" "00025736" "30" "2606" "12" "2606" "12" "c.2606+12T>G" "r.(=)" "p.(=)" "" "0000306671" "00001773" "30" "2606" "12" "2606" "12" "c.2606+12T>G" "r.(=)" "p.(=)" "" "0000306672" "00025736" "30" "2710" "-823" "2710" "-821" "c.2710-823_2710-821del" "r.(=)" "p.(=)" "" "0000306672" "00001773" "30" "2730" "9" "2730" "11" "c.2730+9_2730+11del" "r.(=)" "p.(=)" "" "0000306673" "00025736" "50" "2800" "0" "2800" "0" "c.2800C>G" "r.(?)" "p.(Pro934Ala)" "" "0000306673" "00001773" "50" "2821" "0" "2821" "0" "c.2821C>G" "r.(?)" "p.(Pro941Ala)" "" "0000306674" "00025736" "30" "411" "0" "411" "0" "c.411C>T" "r.(?)" "p.(Asp137=)" "" "0000306674" "00001773" "30" "411" "0" "411" "0" "c.411C>T" "r.(?)" "p.(Asp137=)" "" "0000306675" "00025736" "10" "669" "0" "669" "0" "c.669G>T" "r.(?)" "p.(Leu223Phe)" "" "0000306675" "00001773" "10" "669" "0" "669" "0" "c.669G>T" "r.(?)" "p.(Leu223Phe)" "" "0000306676" "00025736" "90" "748" "1" "748" "1" "c.748+1G>A" "r.spl?" "p.?" "" "0000306676" "00001773" "90" "748" "1" "748" "1" "c.748+1G>A" "r.spl?" "p.?" "" "0000327251" "00025736" "50" "2317" "0" "2317" "0" "c.2317C>T" "r.(?)" "p.(Pro773Ser)" "" "0000327251" "00001773" "50" "2317" "0" "2317" "0" "c.2317C>T" "r.(?)" "p.(Pro773Ser)" "" "0000337172" "00025736" "90" "899" "1" "899" "1" "c.899+1G>A" "r.spl?" "p.?" "" "0000337172" "00001773" "90" "899" "1" "899" "1" "c.899+1G>A" "r.spl?" "p.?" "" "0000340713" "00025736" "30" "411" "0" "411" "0" "c.411C>T" "r.(?)" "p.(Asp137=)" "" "0000340713" "00001773" "30" "411" "0" "411" "0" "c.411C>T" "r.(?)" "p.(Asp137=)" "" "0000340889" "00025736" "10" "2265" "0" "2265" "0" "c.2265T>C" "r.(?)" "p.(Phe755=)" "" "0000340889" "00001773" "10" "2265" "0" "2265" "0" "c.2265T>C" "r.(?)" "p.(Phe755=)" "" "0000342695" "00025736" "90" "1039" "0" "1039" "0" "c.1039C>T" "r.(?)" "p.(Arg347Ter)" "" "0000342695" "00001773" "90" "1039" "0" "1039" "0" "c.1039C>T" "r.(?)" "p.(Arg347Ter)" "" "0000343799" "00025736" "10" "1793" "0" "1793" "0" "c.1793A>G" "r.(?)" "p.(Asn598Ser)" "" "0000343799" "00001773" "10" "1793" "0" "1793" "0" "c.1793A>G" "r.(?)" "p.(Asn598Ser)" "" "0000346674" "00025736" "10" "913" "0" "913" "0" "c.913A>G" "r.(?)" "p.(Ile305Val)" "" "0000346674" "00001773" "10" "913" "0" "913" "0" "c.913A>G" "r.(?)" "p.(Ile305Val)" "" "0000350899" "00025736" "90" "748" "1" "748" "1" "c.748+1G>A" "r.spl?" "p.?" "" "0000350899" "00001773" "90" "748" "1" "748" "1" "c.748+1G>A" "r.spl?" "p.?" "" "0000509254" "00025736" "90" "1009" "0" "1009" "0" "c.1009C>T" "r.(?)" "p.(Arg337Ter)" "" "0000509254" "00001773" "90" "1009" "0" "1009" "0" "c.1009C>T" "r.(?)" "p.(Arg337Ter)" "" "0000509255" "00025736" "30" "1261" "0" "1261" "0" "c.1261G>A" "r.(?)" "p.(Glu421Lys)" "" "0000509255" "00001773" "30" "1261" "0" "1261" "0" "c.1261G>A" "r.(?)" "p.(Glu421Lys)" "" "0000509256" "00025736" "30" "1268" "0" "1268" "0" "c.1268C>G" "r.(?)" "p.(Pro423Arg)" "" "0000509256" "00001773" "30" "1268" "0" "1268" "0" "c.1268C>G" "r.(?)" "p.(Pro423Arg)" "" "0000509257" "00025736" "50" "1847" "0" "1847" "0" "c.1847C>T" "r.(?)" "p.(Pro616Leu)" "" "0000509257" "00001773" "50" "1847" "0" "1847" "0" "c.1847C>T" "r.(?)" "p.(Pro616Leu)" "" "0000509259" "00025736" "50" "2522" "0" "2522" "0" "c.2522C>T" "r.(?)" "p.(Ala841Val)" "" "0000509259" "00001773" "50" "2522" "0" "2522" "0" "c.2522C>T" "r.(?)" "p.(Ala841Val)" "" "0000509260" "00025736" "50" "2837" "0" "2837" "0" "c.2837C>T" "r.(?)" "p.(Pro946Leu)" "" "0000509260" "00001773" "50" "2858" "0" "2858" "0" "c.2858C>T" "r.(?)" "p.(Pro953Leu)" "" "0000620730" "00025736" "30" "1764" "0" "1764" "0" "c.1764C>T" "r.(?)" "p.(Cys588=)" "" "0000620730" "00001773" "30" "1764" "0" "1764" "0" "c.1764C>T" "r.(?)" "p.(Cys588=)" "" "0000650104" "00025736" "10" "913" "0" "913" "0" "c.913A>G" "r.(?)" "p.(Ile305Val)" "" "0000650104" "00001773" "10" "913" "0" "913" "0" "c.913A>G" "r.(?)" "p.(Ile305Val)" "" "0000675189" "00001773" "90" "151" "-5" "151" "-5" "c.151-5T>G" "r.spl?" "p.?" "" "0000676014" "00025736" "50" "2182" "0" "2182" "0" "c.2182C>T" "r.(?)" "p.(Arg728Trp)" "" "0000676014" "00001773" "50" "2182" "0" "2182" "0" "c.2182C>T" "r.(?)" "p.(Arg728Trp)" "" "0000676015" "00025736" "30" "2646" "0" "2646" "0" "c.2646C>T" "r.(?)" "p.(Val882=)" "" "0000676015" "00001773" "30" "2646" "0" "2646" "0" "c.2646C>T" "r.(?)" "p.(Val882=)" "" "0000688321" "00025736" "30" "1627" "0" "1627" "0" "c.1627A>G" "r.(?)" "p.(Asn543Asp)" "" "0000688321" "00001773" "30" "1627" "0" "1627" "0" "c.1627A>G" "r.(?)" "p.(Asn543Asp)" "" "0000717838" "00025736" "50" "442" "0" "442" "0" "c.442C>T" "r.(?)" "p.(Leu148Phe)" "" "0000717838" "00001773" "50" "442" "0" "442" "0" "c.442C>T" "r.(?)" "p.(Leu148Phe)" "" "0000717839" "00025736" "90" "520" "0" "520" "0" "c.520C>T" "r.(?)" "p.(Arg174Ter)" "" "0000717839" "00001773" "90" "520" "0" "520" "0" "c.520C>T" "r.(?)" "p.(Arg174Ter)" "" "0000730909" "00001773" "90" "1009" "0" "1009" "0" "c.1009C>T" "r.(?)" "p.(Arg337*)" "" "0000730910" "00001773" "90" "899" "1" "899" "1" "c.899+1G>A" "r.spl" "p.?" "" "0000730911" "00001773" "90" "2731" "-1" "2731" "-1" "c.2731-1G>A" "r.spl" "p.?" "" "0000764812" "00001773" "90" "52" "0" "52" "0" "c.52A>C" "r.(?)" "p.(Thr18Pro)" "2" "0000764813" "00001773" "90" "52" "0" "52" "0" "c.52A>C" "r.(?)" "p.(Thr18Pro)" "2" "0000764814" "00001773" "90" "52" "0" "52" "0" "c.52A>C" "r.(?)" "p.(Thr18Pro)" "2" "0000764815" "00001773" "90" "52" "0" "52" "0" "c.52A>C" "r.(?)" "p.(Thr18Pro)" "2" "0000764816" "00001773" "90" "52" "0" "52" "0" "c.52A>C" "r.(?)" "p.(Thr18Pro)" "2" "0000764817" "00001773" "90" "71" "0" "71" "0" "c.71A>T" "r.(?)" "p.(Glu24Val)" "2" "0000764818" "00001773" "90" "9" "0" "9" "0" "c.9del" "r.(?)" "p.(Asp4ThrfsTer31)" "1" "0000764819" "00001773" "90" "665" "0" "665" "0" "c.665del" "r.(?)" "p.(Pro222HisfsTer30)" "8" "0000764820" "00001773" "90" "1417" "0" "1423" "0" "c.1417_1423del" "r.(?)" "p.(Gly473LysfsTer23)" "15" "0000764821" "00001773" "90" "1335" "0" "1335" "0" "c.1335del" "r.(?)" "p.(Tyr445Ter)" "15" "0000764822" "00001773" "90" "82" "0" "82" "0" "c.82del" "r.(?)" "p.(Ser28ProfsTer7)" "3" "0000764823" "00001773" "90" "2864" "0" "2865" "0" "c.2864_2865insTTCT" "r.(?)" "p.(Ala956SerfsTer22)" "24" "0000764824" "00001773" "90" "2343" "0" "2347" "0" "c.2343_2347del" "r.(?)" "p.(Pro782CysfsTer22)" "20" "0000764825" "00001773" "90" "1293" "0" "1294" "0" "c.1293_1294del" "r.(?)" "p.(Asp431GlufsTer2)" "14" "0000764826" "00001773" "90" "131" "0" "131" "0" "c.131del" "r.(?)" "p.(Leu44TrpfsTer50)" "3" "0000764827" "00001773" "90" "0" "0" "0" "0" "c.?" "r.0?" "p.0?" "_1_4i" "0000764828" "00001773" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" "4i_5i" "0000764829" "00001773" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" "23i_24i" "0000764830" "00001773" "90" "1326" "0" "1326" "0" "c.1326T>G" "r.(?)" "p.(Tyr442Ter)" "14" "0000764831" "00001773" "90" "1039" "0" "1039" "0" "c.1039C>T" "r.(?)" "p.(Arg347Ter)" "12" "0000764832" "00001773" "90" "1725" "0" "1725" "0" "c.1725G>A" "r.(?)" "p.(Trp575Ter)" "17" "0000764833" "00001773" "90" "2629" "0" "2629" "0" "c.2629C>T" "r.(?)" "p.(Gln877Ter)" "23" "0000764834" "00001773" "90" "2491" "0" "2491" "0" "c.2491G>T" "r.(?)" "p.(Glu831Ter)" "" "0000764835" "00001773" "90" "641" "0" "641" "0" "c.641del" "r.(?)" "p.(Ser214Ter)" "7" "0000764836" "00001773" "90" "151" "-2" "151" "-2" "c.151-2A>T" "r.spl" "p.?" "3i" "0000764837" "00001773" "90" "748" "2" "748" "2" "c.748+2T>G" "r.spl" "p.?" "8i" "0000764838" "00001773" "90" "748" "1" "748" "1" "c.748+1G>A" "r.spl" "p.?" "8i" "0000764839" "00001773" "90" "748" "1" "748" "1" "c.748+1G>A" "r.spl" "p.?" "8i" "0000764840" "00001773" "90" "748" "1" "748" "1" "c.748+1G>A" "r.spl" "p.?" "8i" "0000764841" "00001773" "90" "748" "1" "748" "1" "c.748+1G>A" "r.spl" "p.?" "8i" "0000764842" "00001773" "90" "748" "1" "748" "1" "c.748+1G>A" "r.spl" "p.?" "8i" "0000764843" "00001773" "90" "899" "1" "899" "1" "c.899+1G>A" "r.spl" "p.?" "10i" "0000764844" "00001773" "90" "899" "1" "899" "1" "c.899+1G>A" "r.spl" "p.?" "10i" "0000764845" "00001773" "90" "1237" "-2" "1237" "-2" "c.1237-2A>G" "r.spl" "p.?" "13i" "0000764846" "00001773" "90" "520" "0" "520" "0" "c.520C>T" "r.(?)" "p.(Arg174Ter)" "7" "0000764847" "00001773" "90" "1389" "0" "1389" "0" "c.1389T>A" "r.(?)" "p.(Cys463Ter)" "6" "0000764848" "00001773" "90" "1039" "0" "1039" "0" "c.1039C>T" "r.(?)" "p.(Arg347Ter)" "12" "0000764849" "00001773" "90" "899" "1" "899" "1" "c.899+1G>A" "r.spl" "p.?" "10i" "0000764850" "00001773" "90" "473" "0" "473" "0" "c.473del" "r.(?)" "p.(Asn158ThrfsTer21)" "6" "0000764851" "00001773" "90" "929" "0" "929" "0" "c.929G>A" "r.(?)" "p.(Trp310Ter)" "11" "0000764852" "00001773" "90" "69" "0" "69" "0" "c.69G>A" "r.(?)" "p.(Trp23Ter)" "2" "0000764853" "00001773" "90" "280" "0" "280" "0" "c.280G>T" "r.(?)" "p.(Glu94Ter)" "4" "0000764864" "00001773" "90" "659" "0" "659" "0" "c.659del" "r.(?)" "p.(Leu220Ter)" "8" "0000764865" "00001773" "90" "2103" "0" "2103" "0" "c.2103G>A" "r.(?)" "p.(Trp701Ter)" "19" "0000764866" "00001773" "90" "691" "0" "691" "0" "c.691C>T" "r.(?)" "p.(Arg231Ter)" "8" "0000764867" "00001773" "90" "2037" "0" "2055" "0" "c.2037_2055dup" "r.(?)" "p.(Phe686AlafsTer8)" "18" "0000764868" "00001773" "90" "150" "1" "150" "1" "c.150+1G>C" "r.spl" "p.?" "3" "0000764869" "00001773" "90" "401" "0" "407" "0" "c.401_407del" "r.(?)" "p.(Ala134ValfsTer14)" "6" "0000764870" "00001773" "90" "748" "1" "748" "1" "c.748+1G>A" "r.spl" "p.?" "8i" "0000765174" "00001773" "90" "748" "2" "748" "2" "c.748+2T>G" "r.spl" "p.?" "" "0000765175" "00001773" "90" "2011" "0" "2011" "0" "c.2011C>T" "r.(?)" "p.(Arg671Ter)" "" "0000765176" "00001773" "90" "1339" "0" "1339" "0" "c.1339C>T" "r.(?)" "p.(Gln447Ter)" "" "0000765177" "00001773" "90" "2802" "0" "2802" "0" "c.2802del" "r.(?)" "p.(Val935CysfsTer93)" "" "0000765178" "00001773" "90" "2802" "0" "2802" "0" "c.2802del" "r.(?)" "p.(Val935CysfsTer93)" "" "0000765179" "00001773" "90" "475" "0" "478" "0" "c.475_478del" "r.(?)" "p.(Thr159AlafsTer19)" "" "0000765180" "00001773" "90" "649" "-2" "649" "-2" "c.649-2A>G" "r.spl" "p.?" "" "0000765181" "00001773" "90" "649" "-2" "649" "-2" "c.649-2A>G" "r.spl" "p.?" "" "0000765182" "00001773" "90" "649" "-2" "649" "-2" "c.649-2A>G" "r.spl" "p.?" "" "0000765183" "00001773" "90" "2011" "0" "2011" "0" "c.2011C>T" "r.(?)" "p.(Arg671Ter)" "" "0000765184" "00001773" "90" "748" "1" "748" "1" "c.748+1G>A" "r.spl" "p.?" "" "0000765185" "00001773" "90" "1174" "0" "1174" "0" "c.1174C>T" "r.(?)" "p.(Arg392Ter)" "" "0000765186" "00001773" "90" "1003" "0" "1003" "0" "c.1003del" "r.(?)" "p.(Cys335AlafsTer26)" "" "0000765187" "00001773" "90" "1734" "0" "1734" "0" "c.1734G>A" "r.(?)" "p.(Trp578Ter)" "" "0000765188" "00001773" "90" "1471" "0" "1471" "0" "c.1471C>T" "r.(?)" "p.(Arg491Ter)" "" "0000765189" "00001773" "90" "648" "5" "648" "5" "c.648+5G>A" "r.483_648del" "p.Cys161fs" "" "0000765190" "00001773" "90" "648" "5" "648" "5" "c.648+5G>A" "r.483_648del" "p.Cys161fs" "" "0000765191" "00001773" "90" "1786" "0" "1789" "0" "c.1786_1789del" "r.(?)" "p.(Lys596GlufsTer18)" "" "0000765192" "00001773" "90" "1410" "0" "1410" "0" "c.1410C>A" "r.(?)" "p.(Tyr470Ter)" "" "0000765193" "00001773" "90" "264" "0" "270" "0" "c.264_270delinsTTATTA" "r.(?)" "p.(Lys89TyrfsTer2)" "" "0000765194" "00001773" "90" "264" "0" "270" "0" "c.264_270delinsTTATTA" "r.(?)" "p.(Lys89TyrfsTer2)" "" "0000765195" "00001773" "90" "748" "1" "748" "1" "c.748+1G>A" "r.spl" "p.?" "" "0000786999" "00001773" "70" "28" "0" "28" "0" "c.28G>T" "r.(?)" "p.(Glu10Ter)" "2" "0000787367" "00001773" "50" "0" "0" "0" "0" "c.?" "r.?" "p.?" "24" "0000799665" "00025736" "30" "150" "9" "150" "9" "c.150+9T>C" "r.(=)" "p.(=)" "" "0000799665" "00001773" "30" "150" "9" "150" "9" "c.150+9T>C" "r.(=)" "p.(=)" "" "0000799666" "00025736" "50" "1207" "0" "1207" "0" "c.1207A>T" "r.(?)" "p.(Asn403Tyr)" "" "0000799666" "00001773" "50" "1207" "0" "1207" "0" "c.1207A>T" "r.(?)" "p.(Asn403Tyr)" "" "0000799667" "00025736" "30" "1598" "0" "1598" "0" "c.1598G>A" "r.(?)" "p.(Gly533Glu)" "" "0000799667" "00001773" "30" "1598" "0" "1598" "0" "c.1598G>A" "r.(?)" "p.(Gly533Glu)" "" "0000814433" "00025736" "90" "1417" "0" "1423" "0" "c.1417_1423del" "r.(?)" "p.(Gly473Lysfs*23)" "" "0000814433" "00001773" "90" "1417" "0" "1423" "0" "c.1417_1423del" "r.(?)" "p.(Gly473LysfsTer23)" "" "0000817845" "00001773" "50" "1550" "0" "1550" "0" "c.1550T>C" "r.(?)" "p.(Leu517Pro)" "" "0000848949" "00025736" "30" "240" "0" "240" "0" "c.240A>C" "r.(?)" "p.(Val80=)" "" "0000848949" "00001773" "30" "240" "0" "240" "0" "c.240A>C" "r.(?)" "p.(Val80=)" "" "0000848950" "00025736" "70" "258" "0" "261" "0" "c.258_261del" "r.(?)" "p.(Gly88Argfs*5)" "" "0000848950" "00001773" "70" "258" "0" "261" "0" "c.258_261del" "r.(?)" "p.(Gly88Argfs*5)" "" "0000857695" "00025736" "30" "9" "0" "9" "0" "c.9C>T" "r.(?)" "p.(Ala3=)" "" "0000857695" "00001773" "30" "9" "0" "9" "0" "c.9C>T" "r.(?)" "p.(Ala3=)" "" "0000874661" "00025736" "70" "1009" "0" "1009" "0" "c.1009C>T" "r.(?)" "p.(Arg337*)" "" "0000874661" "00001773" "70" "1009" "0" "1009" "0" "c.1009C>T" "r.(?)" "p.(Arg337*)" "" "0000877869" "00025736" "70" "475" "0" "478" "0" "c.475_478del" "r.(?)" "p.(Thr159Alafs*19)" "2" "0000877869" "00001773" "70" "475" "0" "478" "0" "c.475_478del" "r.(?)" "p.(Thr159Alafs*19)" "" "0000954884" "00001773" "90" "1009" "0" "1009" "0" "c.1009C>T" "r.(?)" "p.(Arg337Ter)" "" "0000954975" "00001773" "90" "1039" "0" "1039" "0" "c.1039C>T" "r.(?)" "p.(Arg347Ter)" "" "0000954976" "00001773" "90" "1335" "0" "1335" "0" "c.1335del" "r.(?)" "p.(Tyr445Ter)" "" "0000954977" "00001773" "90" "1410" "0" "1410" "0" "c.1410C>A" "r.(?)" "p.(Tyr470Ter)" "" "0000955001" "00001773" "90" "2037" "0" "2055" "0" "c.2037_2055dup" "r.(?)" "p.(Phe686AlafsTer8)" "" "0000974291" "00025736" "50" "899" "8" "899" "8" "c.899+8T>G" "r.(=)" "p.(=)" "" "0000974291" "00001773" "50" "899" "8" "899" "8" "c.899+8T>G" "r.(=)" "p.(=)" "" "0000974292" "00025736" "50" "2837" "0" "2837" "0" "c.2837C>T" "r.(?)" "p.(Pro946Leu)" "" "0000974292" "00001773" "50" "2858" "0" "2858" "0" "c.2858C>T" "r.(?)" "p.(Pro953Leu)" "" "0000991622" "00025736" "30" "1006" "0" "1006" "0" "c.1006C>T" "r.(?)" "p.(Arg336Cys)" "" "0000991622" "00001773" "30" "1006" "0" "1006" "0" "c.1006C>T" "r.(?)" "p.(Arg336Cys)" "" "0001007061" "00025736" "70" "2037" "0" "2055" "0" "c.2037_2055dup" "r.(?)" "p.(Phe686Alafs*8)" "18" "0001007062" "00025736" "90" "899" "1" "899" "1" "c.899+1G>A" "r.spl" "p.?" "" "0001007102" "00001773" "90" "120" "0" "120" "0" "c.120del" "r.(?)" "p.(Ile40Metfs*54)" "3" "0001007103" "00001773" "90" "1381" "0" "1381" "0" "c.1381del" "r.(?)" "p.(Ala461Leufs*6)" "15" "0001032370" "00025736" "30" "2710" "-4" "2710" "-4" "c.2710-4C>T" "r.spl?" "p.?" "" "0001032370" "00001773" "30" "2731" "-4" "2731" "-4" "c.2731-4C>T" "r.spl?" "p.?" "" "0001050803" "00025736" "70" "2166" "0" "2166" "0" "c.2166del" "r.(?)" "p.(Gly723Glufs*3)" "" "0001050803" "00001773" "70" "2166" "0" "2166" "0" "c.2166del" "r.(?)" "p.(Gly723Glufs*3)" "" "0001058263" "00001773" "90" "178" "0" "182" "0" "c.178_182del" "r.(?)" "p.(Glu60IlefsTer3)" "" "0001058287" "00001773" "70" "1236" "124" "1923" "2483" "c.1236+124_1923+2483del" "r.(1237_1923del)" "p.?" "13i_17i" "0001059063" "00001773" "90" "2644" "0" "2644" "0" "c.2644del" "r.(?)" "p.(Val882SerfsTer18)" "" "0001059064" "00001773" "90" "2343" "0" "2347" "0" "c.2343_2347del" "r.(?)" "p.(Pro782CysfsTer22)" "" "0001059065" "00001773" "90" "2417" "0" "2417" "0" "c.2417del" "r.(?)" "p.(Lys806ArgfsTer3)" "" "0001059066" "00001773" "90" "2944" "0" "2944" "0" "c.2944dup" "r.(?)" "p.(Ser982PhefsTer26)" "" "0001059067" "00001773" "90" "2037" "0" "2055" "0" "c.2037_2055dup" "r.(?)" "p.(Phe686AlafsTer8)" "" "0001059068" "00001773" "90" "1471" "0" "1471" "0" "c.1471C>T" "r.(?)" "p.(Arg491Ter)" "" "0001059925" "00025736" "50" "2853" "0" "2853" "0" "c.2853C>G" "r.(?)" "p.(Tyr951Ter)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 103 "{{screeningid}}" "{{variantid}}" "0000056368" "0000086607" "0000081053" "0000130139" "0000081205" "0000130291" "0000293415" "0000650104" "0000308284" "0000675189" "0000333338" "0000730909" "0000333339" "0000730910" "0000333340" "0000730911" "0000364058" "0000764812" "0000364059" "0000764813" "0000364060" "0000764814" "0000364061" "0000764815" "0000364062" "0000764816" "0000364063" "0000764817" "0000364064" "0000764818" "0000364065" "0000764819" "0000364066" "0000764820" "0000364067" "0000764821" "0000364068" "0000764822" "0000364069" "0000764823" "0000364070" "0000764824" "0000364071" "0000764825" "0000364072" "0000764826" "0000364073" "0000764827" "0000364074" "0000764828" "0000364075" "0000764829" "0000364076" "0000764830" "0000364077" "0000764831" "0000364078" "0000764832" "0000364079" "0000764833" "0000364080" "0000764834" "0000364081" "0000764835" "0000364082" "0000764836" "0000364083" "0000764837" "0000364084" "0000764838" "0000364085" "0000764839" "0000364086" "0000764840" "0000364087" "0000764841" "0000364088" "0000764842" "0000364089" "0000764843" "0000364090" "0000764844" "0000364091" "0000764845" "0000364092" "0000764846" "0000364092" "0000764864" "0000364093" "0000764847" "0000364093" "0000764865" "0000364094" "0000764848" "0000364094" "0000764866" "0000364095" "0000764849" "0000364095" "0000764867" "0000364096" "0000764850" "0000364096" "0000764868" "0000364097" "0000764851" "0000364098" "0000764852" "0000364098" "0000764869" "0000364099" "0000764853" "0000364099" "0000764870" "0000364394" "0000765174" "0000364395" "0000765175" "0000364396" "0000765176" "0000364397" "0000765177" "0000364398" "0000765178" "0000364399" "0000765179" "0000364400" "0000765180" "0000364401" "0000765181" "0000364402" "0000765182" "0000364403" "0000765183" "0000364404" "0000765184" "0000364405" "0000765185" "0000364406" "0000765186" "0000364407" "0000765187" "0000364408" "0000765188" "0000364409" "0000765189" "0000364410" "0000765190" "0000364411" "0000765191" "0000364412" "0000765192" "0000364413" "0000765193" "0000364414" "0000765194" "0000364415" "0000765195" "0000375648" "0000786999" "0000376016" "0000787367" "0000386753" "0000814433" "0000389052" "0000817845" "0000416533" "0000874661" "0000418126" "0000877869" "0000446540" "0000954884" "0000446622" "0000954975" "0000446622" "0000955001" "0000446623" "0000954976" "0000446624" "0000954977" "0000455077" "0001007061" "0000455077" "0001007062" "0000455099" "0001007102" "0000455099" "0001007103" "0000470176" "0001058263" "0000470176" "0001058287" "0000470941" "0001059063" "0000470942" "0001059064" "0000470943" "0001059065" "0000470944" "0001059066" "0000470945" "0001059067" "0000470946" "0001059068" "0000471701" "0001059925"