### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = FOXE3) # 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}}" "FOXE3" "forkhead box E3" "1" "p32" "unknown" "NG_016192.1" "UD_132118314545" "" "http://www.LOVD.nl/FOXE3" "" "1" "3808" "2301" "601094" "1" "1" "1" "1" "" "" "g" "http://databases.lovd.nl/shared/refseq/FOXE3_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2014-12-02 12:07:39" "00006" "2025-11-27 15:47:05" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00008083" "FOXE3" "forkhead box E3" "001" "NM_012186.2" "" "NP_036318.1" "" "" "" "-244" "1737" "960" "47881744" "47883724" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 12 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00152" "CHD" "heart disease, congenital (CHD)" "" "" "" "" "" "00008" "2013-06-19 09:27:11" "00006" "2015-01-23 22:14:45" "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" "01178" "AN" "aniridia (AN)" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2019-07-12 09:10:59" "01180" "ASGD1" "dysgenesis, anterior segment, type 1" "AD" "107250" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2025-11-10 16:35:46" "02923" "ASGD2" "dysgenesis, anterior segment, type 2" "AR" "610256" "" "" "autosomal recessive" "00006" "2014-09-25 23:29:40" "00006" "2025-11-26 23:03:21" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "05644" "CTRCT34" "cataract, multiple types, type 34 (CTRCT-34)" "" "612968" "" "" "" "00006" "2019-08-09 10:45:05" "00006" "2021-12-10 21:51:32" "05645" "AAT11" "aneurysm, aortic, thoracic, familial, type 11 (AAT11)" "AD" "617349" "" "" "autosomal dominant" "00006" "2019-08-09 10:50:32" "00006" "2025-11-10 16:34:30" "07204" "ASGD" "dysgenesis, anterior segment" "" "" "" "" "" "00006" "2025-11-23 20:01:41" "00006" "2025-11-26 23:03:04" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "FOXE3" "02923" "FOXE3" "05644" "FOXE3" "05645" ## Individuals ## Do not remove or alter this header ## ## Count = 134 "{{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}}" "00025007" "" "" "" "3" "" "01155" "" "" "" "" "" "" "0" "" "" "" "" "00025009" "" "" "" "1" "" "01155" "" "" "" "" "" "" "0" "" "" "" "" "00064777" "" "" "" "2" "" "01588" "{PMID:Semina 2001:11159941}" "2-generation family, affected mother and daugther" "F" "no" "United States" "" "0" "" "" "" "" "00064778" "" "" "" "23" "" "01588" "{PMID:Semina 2001:11159941}" "90 controls and 161 cases" "" "" "United States" "" "0" "" "" "" "" "00064987" "" "" "" "3" "" "01588" "{PMID:Semina 2001:11159941}" "90 controls and 161 cases" "" "" "United States" "" "0" "" "" "" "" "00064988" "" "" "" "81" "" "01588" "{PMID:Semina 2001:11159941}" "90 controls and 161 cases" "" "" "United States" "" "0" "" "" "" "" "00064989" "" "" "" "18" "" "01588" "{PMID:Semina 2001:11159941}" "90 controls and 161 cases" "" "" "United States" "" "0" "" "" "" "" "00064990" "" "" "" "3" "" "01588" "{PMID:Semina 2001:11159941}" "90 controls and 161 cases" "" "" "United States" "" "0" "" "" "" "" "00064991" "" "" "" "1" "" "01588" "{PMID:Ormestad 2002:11980846}" "" "" "no" "Sweden" "" "0" "" "" "" "" "00064992" "" "" "" "3" "" "01588" "{PMID:Valleix 2006:16826526}" "3-generation family, 3 affecteds (F, 2M), unaffected heterozygous carrier parents" "F;M" "yes" "France" "" "0" "" "" "" "" "00064993" "" "" "" "6" "" "01588" "{PMID:Iseri 2009:19708017}, {DOI:Iseri 2009:10.1002/humu.21079}" "7-generation family, 6 affecteds (F, 5M), unaffected hetereozygous carrier parents" "F;M" "yes" "Pakistan" "" "0" "" "" "" "" "00064994" "" "" "" "3" "" "01588" "{PMID:Iseri 2009:19708017}, {DOI:Iseri 2009:10.1002/humu.21079}" "4-generation family, 3 affecteds (F, 2M), unaffected hetereozygous carrier parents" "F;M" "yes" "Pakistan" "" "0" "" "" "" "" "00064995" "" "" "" "5" "" "01588" "{PMID:Iseri 2009:19708017}, {DOI:Iseri 2009:10.1002/humu.21079}" "2-generation family, 5 affecteds (4F, M)" "F;M" "" "Pakistan" "" "0" "" "" "" "" "00064996" "" "" "" "4" "" "01588" "{PMID:Iseri 2009:19708017}, {DOI:Iseri 2009:10.1002/humu.21079}" "2-generation family, 4 affecteds (3F, M)" "F;M" "" "Pakistan" "" "0" "" "" "" "" "00064997" "" "" "" "7" "" "01588" "{PMID:Ali 2010:20664696}" "8-generation family, 7 affecteds (3F, 4M), unaffected heterozygous carrier parents/sibs" "F;M" "yes" "Pakistan" "" "0" "" "" "" "" "00064999" "" "" "" "9" "" "01588" "{PMID:Ali 2010:20664696}" "6-generation family, 9 affecteds (4F, 5M), unaffected heterozygous carrier parents/sibs" "F;M" "yes" "Mexico" "" "0" "" "" "Mexican, Tlaxcala" "" "00065000" "" "" "" "5" "" "01588" "{PMID:Anjum 2010:20361012}" "6-generation family, 5 affecteds (5F), unaffected hetereozygous carrier parents/sibs" "F" "yes" "Pakistan" "" "0" "" "" "" "" "00065002" "" "" "" "1" "" "01588" "{PMID:Brémond-Gignac 2010:20806047}" "" "" "" "United States" "" "0" "" "" "" "Pat4" "00065003" "" "" "" "1" "" "01588" "{PMID:Brémond-Gignac 2010:20806048}" "" "" "" "United States" "" "0" "" "" "" "" "00065004" "" "" "" "1" "" "01588" "{PMID:Reis 2010:20140963}, {DOI:Reis 2010:10.1002/ajmg.a.33257}" "" "" "no" "" "" "0" "" "" "white" "" "00065005" "" "" "" "1" "" "01588" "{PMID:Reis 2010:20140963}, {DOI:Reis 2010:10.1002/ajmg.a.33257}" "" "" "" "" "" "0" "" "" "white" "" "00065007" "" "" "" "1" "" "01588" "{PMID:Reis 2010:20140963}, {DOI:Reis 2010:10.1002/ajmg.a.33257}" "" "" "" "Bangladesh" "" "0" "" "" "" "" "00065008" "" "" "" "1" "" "01588" "{PMID:Reis 2010:20140963}, {DOI:Reis 2010:10.1002/ajmg.a.33257}" "" "" "" "" "" "0" "" "" "" "" "00065009" "" "" "" "1" "" "01588" "{PMID:Reis 2010:20140963}, {DOI:Reis 2010:10.1002/ajmg.a.33257}" "" "" "" "" "" "0" "" "" "white" "" "00065010" "" "" "" "1" "" "01588" "{PMID:Gillespie 2014:25148791}" "" "" "" "" "" "0" "" "" "" "" "00065011" "" "" "" "6" "" "01588" "{PMID:Ullah 2016:26995144}" "6-generation family, 6 affecteds (3F, 3M), unaffected hetereozygous carrier parents" "F;M" "yes" "Pakistan" "" "0" "" "" "" "FamMA143" "00065013" "" "" "" "4" "" "00006" "{PMID:Ullah 2016:26995144}" "6-generation family, 4 affecteds (2F, 2M), unaffected heterozygous carrier parents" "F;M" "yes" "Pakistan" "" "0" "" "" "" "FamMA119" "00065014" "" "" "" "5" "" "00006" "{PMID:Reis 2010:20140963}, {DOI:Reis 2010:10.1002/ajmg.a.33257}" "682 controls" "" "" "" "" "0" "" "" "" "" "00065015" "" "" "" "1" "" "00006" "{PMID:Reis 2010:20140963}, {DOI:Reis 2010:10.1002/ajmg.a.33257}" "682 controls" "" "" "" "" "0" "" "" "" "" "00065016" "" "" "" "4" "" "00006" "{PMID:Reis 2010:20140963}, {DOI:Reis 2010:10.1002/ajmg.a.33257}" "682 controls" "" "" "" "" "0" "" "" "" "" "00065017" "" "" "" "3" "" "00006" "{PMID:Reis 2010:20140963}, {DOI:Reis 2010:10.1002/ajmg.a.33257}" "682 controls" "" "" "" "" "0" "" "" "" "" "00065018" "" "" "" "1" "" "00006" "{PMID:Reis 2010:20140963}, {DOI:Reis 2010:10.1002/ajmg.a.33257}" "682 controls" "" "" "" "" "0" "" "" "" "" "00065019" "" "" "" "6" "" "00006" "{PMID:Reis 2010:20140963}, {DOI:Reis 2010:10.1002/ajmg.a.33257}" "748 controls" "" "" "" "" "0" "" "" "" "" "00065020" "" "" "" "1" "" "00006" "{PMID:Reis 2010:20140963}, {DOI:Reis 2010:10.1002/ajmg.a.33257}" "748 controls" "" "" "" "" "0" "" "" "" "" "00065021" "" "" "" "233" "" "00006" "{PMID:Reis 2010:20140963}, {DOI:Reis 2010:10.1002/ajmg.a.33257}" "748 controls" "" "" "" "" "0" "" "" "" "" "00065022" "" "" "" "1" "" "00006" "{PMID:Reis 2010:20140963}, {DOI:Reis 2010:10.1002/ajmg.a.33257}" "748 controls" "" "" "" "" "0" "" "" "" "" "00065023" "" "" "" "5" "" "00006" "{PMID:Reis 2010:20140963}, {DOI:Reis 2010:10.1002/ajmg.a.33257}" "748 controls" "" "" "" "" "0" "" "" "" "" "00065024" "" "" "" "12" "" "00006" "{PMID:Reis 2010:20140963}, {DOI:Reis 2010:10.1002/ajmg.a.33257}" "748 controls" "" "" "" "" "0" "" "" "" "" "00065025" "" "" "" "1" "" "00006" "{PMID:Reis 2010:20140963}, {DOI:Reis 2010:10.1002/ajmg.a.33257}" "748 controls" "" "" "" "" "0" "" "" "" "" "00065026" "" "" "" "1" "" "00006" "{PMID:Reis 2010:20140963}, {DOI:Reis 2010:10.1002/ajmg.a.33257}" "748 controls" "" "" "" "" "0" "" "" "" "" "00065027" "" "" "" "1" "" "00006" "{PMID:Reis 2010:20140963}, {DOI:Reis 2010:10.1002/ajmg.a.33257}" "748 controls" "" "" "" "" "0" "" "" "" "" "00065028" "" "" "" "2" "" "00006" "{PMID:Reis 2010:20140963}, {DOI:Reis 2010:10.1002/ajmg.a.33257}" "748 controls" "" "" "" "" "0" "" "" "" "" "00164722" "" "" "" "1" "" "01807" "" "" "M" "" "(Germany)" "" "0" "" "" "" "" "00260859" "" "" "" "5" "" "00006" "{PMID:Chen 2017:28418495}" "2-generation family, 5 affected (3F, 2M), unaffected heterozygous carrier parents/relatives" "F;M" "" "" "" "0" "" "" "" "Fam60039" "00382116" "" "" "" "1" "" "00000" "{PMID:Patel 2019:30653986}" "" "?" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "81" "00384350" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31106028}" "" "F" "" "China" "" "0" "" "" "" "13860" "00385466" "" "" "" "1" "" "00000" "{PMID:Lenassi 2020:31848469}" "retrospective analysis" "M" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "15000185" "00385496" "" "" "" "1" "" "00000" "{PMID:Lenassi 2020:31848469}" "retrospective analysis" "M" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "16017070" "00385525" "" "" "" "1" "" "00000" "{PMID:Lenassi 2020:31848469}" "retrospective analysis" "M" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "17015864" "00411261" "" "" "" "1" "" "01164" "" "" "F" "yes" "Saudi Arabia" "" "0" "" "" "" "198801" "00434075" "" "" "" "1" "" "00006" "{PMID:Li 2016:27307692}" "" "" "" "China" "" "0" "" "" "" "Pat31" "00434129" "" "" "" "2" "" "00006" "{PMID:Li 2019:31842807}" "2-generation family, affected mother/son" "M" "" "China" "" "0" "" "" "" "Fam1PatII1" "00434190" "" "" "" "1" "" "00006" "{PMID:Zhang 2018:30078984}" "2-generation family, 1 affected" "M" "" "China" "" "0" "" "" "" "WCC9PatII1" "00440084" "" "" "" "3" "" "04543" "{PMID:Basharat 2023:37628625}, {DOI:Basharat 2023:10.3390/genes14081573}" "4-generation family, 3 affected sibs (F, 2M), unaffected heterozygous parents/relatives" "M" "yes" "Pakistan" "" "0" "" "" "Asia-S" "MA102PatIV5" "00440085" "" "" "" "3" "" "04543" "{PMID:Basharat 2023:37628625}, {DOI:Basharat 2023:10.3390/genes14081573}" "4-generation family, 3 affected (F, 2M), unaffected heterozygous parents/relatives" "M" "yes" "Pakistan" "" "0" "" "" "Asia-S" "MA125PatIV2" "00440089" "" "" "" "4" "" "04543" "{PMID:Basharat 2023:37628625}, {DOI:Basharat 2023:10.3390/genes14081573}" "4-generation family, 4 affected (3F, M), unaffected heterozygous parents/relatives" "F" "yes" "Pakistan" "" "0" "" "" "Asia-S" "MA201PatIII3" "00440090" "" "" "" "4" "" "04543" "{PMID:Basharat 2023:37628625}, {DOI:Basharat 2023:10.3390/genes14081573}" "4-generation family, 4 affected (F, 3M), unaffected heterozygous parents/relatives" "F" "yes" "Pakistan" "" "0" "" "" "Asia-S" "MA203PatIV2" "00445009" "" "" "" "1" "" "00006" "{PMID:Reis 2013:23508780}" "family, 3 affected" "" "" "United States" "" "0" "" "" "" "Pat23" "00453739" "" "" "" "1" "" "00006" "{PMID:Mansoorshahi 2024:39226896}" "analysis 215 early-onset complications bicuspid aortic valve-affected families." "" "" "United States" "" "0" "" "" "" "BAV162" "00468526" "" "" "" "1" "" "00006" "{PMID:Bremond-Gignac 2010:20806047}" "patients" "" "" "France" "" "0" "" "" "" "Pat1" "00468527" "" "" "" "1" "" "00006" "{PMID:Bremond-Gignac 2010:20806047}" "2-generation family, 1 affected, unaffected parents (not available)" "" "" "France" "" "0" "" "" "" "Pat2" "00468529" "" "" "" "11" "" "00006" "{PMID:Doucette 2011:21150893}" "4-generation family, 11 affected (3F, 8M)" "F;M" "" "Canada" "" "0" "" "" "" "family" "00468530" "" "" "" "17" "" "00006" "{PMID:Pantoja-Melendez 2013:24019743}" "several families, 17 affected, unaffected heterozygous carrier parents" "F;M" "" "Mexico" "" "0" "" "" "mestizo" "family" "00468558" "" "" "" "1" "" "00006" "{PMID:Chassaing 2014:24033328}" "2-generation family, 1 affected, unaffected parents" "F" "" "France" "" "0" "" "" "" "Pat28" "00468559" "" "" "" "1" "" "00006" "{PMID:Chassaing 2014:24033328}" "2-generation family, 1 affected, unaffected parents" "F" "" "France" "" "0" "" "" "" "Pat29" "00468563" "" "" "" "1" "" "00006" "{PMID:Islam 2015:25504734}" "2-generation family, 1 affected, unaffected carrier mother" "" "yes" "United Kingdom (Great Britain)" "" "0" "" "" "Pakistan" "Pat1" "00468564" "" "" "" "1" "" "00006" "{PMID:Islam 2015:25504734}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "yes" "United Kingdom (Great Britain)" "" "0" "" "" "India" "Pat2" "00468565" "" "" "" "1" "" "00006" "{PMID:Islam 2015:25504734}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat3" "00468902" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" "" "00468903" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" "" "00469699" "" "" "" "4" "" "00006" "{PMID:Khan 2016:27218149}" "4-generation family, 4 affected (F, 3M), unaffected heterozygous carrier parents" "F;M" "yes" "Pakistan" "" "0" "" "" "" "FamPKCC139" "00469700" "" "" "" "5" "" "00006" "{PMID:Khan 2016:27218149}" "4-generation family, 5 affected brother (3)/sisters (2), unaffected heterozygous carrier parents" "F;M" "yes" "Pakistan" "" "0" "" "" "" "FamPKCC009" "00469701" "" "" "" "7" "" "00006" "{PMID:Khan 2016:27218149}" "5-generation family, 7 affected brother (4)/sisters (3), unaffected heterozygous carrier parents" "F;M" "yes" "Pakistan" "" "0" "" "" "" "FamPKCC039" "00469702" "" "" "" "3" "" "00006" "{PMID:Saboo 2017:27669367}" "5-generation family, 3 affected (2F. M), unaffected heterozygous carrier parents" "F;M" "yes" "India" "" "0" "" "" "" "family" "00469703" "" "" "" "2" "" "00006" "{PMID:Ullah 2016:26995144}" "6-generation family, affected brother/sister, unaffected heterozygous carrier parents/relatives" "F;M" "yes" "Pakistan" "" "0" "" "" "" "FamMA115" "00469704" "" "" "" "1" "" "00006" "{PMID:Plaisancie 2018:29136273}" "patient" "" "" "France" "" "0" "" "" "" "Pat1" "00469705" "" "" "" "1" "" "00006" "{PMID:Plaisancie 2018:29136273}" "patient" "" "" "France" "" "0" "" "" "" "Pat2" "00469706" "" "" "" "1" "" "00006" "{PMID:Plaisancie 2018:29136273}" "patient" "" "" "France" "" "0" "" "" "" "Pat3" "00469707" "" "" "" "2" "" "00006" "{PMID:Plaisancie 2018:29136273}" "2-generation family, 2 affected sisters, unaffected heterozygous carrier parents" "F;M" "" "France" "" "0" "" "" "" "Fam1" "00469708" "" "" "" "2" "" "00006" "{PMID:Plaisancie 2018:29136273}" "2-generation family, 2 affected sisters, unaffected heterozygous carrier parents" "F;M" "" "France" "" "0" "" "" "" "Fam2" "00469709" "" "" "" "1" "" "00006" "{PMID:Garcia-Montalvo 2014:24689660}" "patient" "" "" "Mexico" "" "0" "" "" "" "patient" "00469710" "" "" "" "5" "" "00006" "{PMID:Garcia-Montalvo 2014:24689660}" "" "" "" "Mexico" "" "0" "" "" "" "patients" "00469713" "" "" "" "1" "" "00006" "{PMID:Quiroz-Casian 2018:29878917}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "Mexico" "" "0" "" "" "" "Pat1" "00469714" "" "" "" "1" "" "00006" "{PMID:Quiroz-Casian 2018:29878917}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "Mexico" "" "0" "" "" "" "Pat2" "00469939" "" "" "" "1" "" "00006" "{PMID:Thanikachalam 2020:32224865}" "2-generation family, 1 affected, unaffected parents" "M" "" "United States" "" "0" "" "" "white;Hispanic" "Fam18PatII1" "00469943" "" "" "" "1" "" "00006" "{PMID:Taha Najim 2020:32436650}" "2-generation family, unaffected heterozygous carrier parents" "F" "" "Sweden" "" "0" "" "" "" "Pat13" "00469989" "" "" "" "5" "" "00006" "{PMID:Rashid 2020:32976546}" "4-generation family, 5 affected (2F, 3M), unaffected heterozygous carrier parents/relatives" "F;M" "yes" "Pakistan" "" "0" "" "" "" "GCUF06" "00469991" "" "" "" "6" "" "00006" "{PMID:Akbar 2024:37758467}" "4-generation family, 6 affected (3F, 3M), , unaffected heterozygous carrier parents/relatives" "M" "" "Pakistan" "" "0" "" "" "" "FamPatIV9" "00469992" "" "" "00469991" "1" "" "00006" "{PMID:Akbar 2024:37758467}" "sister" "F" "" "Pakistan" "" "0" "" "" "" "FamPatIV11" "00469993" "" "" "00469991" "1" "" "00006" "{PMID:Akbar 2024:37758467}" "sister" "F" "" "Pakistan" "" "0" "" "" "" "FamPatIV12" "00469994" "" "" "00469991" "1" "" "00006" "{PMID:Akbar 2024:37758467}" "brother" "M" "" "Pakistan" "" "0" "" "" "" "FamPatIV14" "00469995" "" "" "00469991" "1" "" "00006" "{PMID:Akbar 2024:37758467}" "sister" "F" "" "Pakistan" "" "0" "" "" "" "FamPatIV15" "00469996" "" "" "00469991" "1" "" "00006" "{PMID:Akbar 2024:37758467}" "cousin" "M" "" "Pakistan" "" "0" "" "" "" "FamPatIV2" "00470031" "" "" "" "1" "" "00006" "{PMID:Lecca 2024:38840272}" "5-generation family, 3 affected (2F, M)" "F" "" "Italy" "" "0" "" "" "" "FamEEPat40" "00470108" "" "" "" "1" "" "00006" "{PMID:Reis 2021:34046667}" "family, 1 affected" "M" "" "India" "" "0" "" "" "Asia-S" "Fam1" "00470109" "" "" "" "3" "" "00006" "{PMID:Reis 2021:34046667}" "family, 3 affected" "M" "yes" "Pakistan" "" "0" "" "" "Asia-S" "Fam2PatA" "00470110" "" "" "00470109" "1" "" "00006" "{PMID:Reis 2021:34046667}" "sib" "M" "yes" "Pakistan" "" "0" "" "" "Asia-S" "Fam2PatB" "00470111" "" "" "00470109" "1" "" "00006" "{PMID:Reis 2021:34046667}" "paternal cousin" "M" "yes" "Pakistan" "" "0" "" "" "Asia-S" "Fam2PatC" "00470112" "" "" "" "1" "" "00006" "{PMID:Reis 2021:34046667}" "family, 1 affected" "M" "" "India" "" "0" "" "" "Asia-S" "Fam3" "00470113" "" "" "" "1" "" "00006" "{PMID:Reis 2021:34046667}" "family, 1 affected" "F" "" "" "" "0" "" "" "white;Asia" "Fam4" "00470114" "" "" "" "1" "" "00006" "{PMID:Reis 2021:34046667}" "family, 1 affected" "M" "" "Netherlands" "" "0" "" "" "" "Fam5" "00470115" "" "" "" "1" "" "00006" "{PMID:Reis 2021:34046667}" "family, 1 affected" "M" "" "India" "" "0" "" "" "Asia-S" "Fam6" "00470116" "" "" "" "2" "" "00006" "{PMID:Reis 2021:34046667}" "family, 2 affected" "F" "" "Czech Republic" "" "0" "" "" "white" "Fam7PatA" "00470117" "" "" "00470116" "1" "" "00006" "{PMID:Reis 2021:34046667}" "sib" "F" "" "Czech Republic" "" "0" "" "" "white" "Fam7PatB" "00470118" "" "" "" "1" "" "00006" "{PMID:Reis 2021:34046667}" "family, 1 affected" "M" "" "Pakistan" "" "0" "" "" "Asia-S" "Fam8" "00470119" "" "" "" "2" "" "00006" "{PMID:Reis 2021:34046667}" "family, 2 affected" "M" "" "Mexico" "" "0" "" "" "Latino" "Fam9PatA" "00470120" "" "" "00470119" "1" "" "00006" "{PMID:Reis 2021:34046667}" "brother" "M" "" "Mexico" "" "0" "" "" "Latino" "Fam9PatB" "00470121" "" "" "" "3" "" "00006" "{PMID:Reis 2021:34046667}" "family, 3 affected" "M" "" "Oman" "" "0" "" "" "Middle-East" "Fam10PatA" "00470122" "" "" "00470121" "1" "" "00006" "{PMID:Reis 2021:34046667}" "brother" "M" "" "Oman" "" "0" "" "" "Middle-East" "Fam10PatB" "00470123" "" "" "00470121" "1" "" "00006" "{PMID:Reis 2021:34046667}" "paternal cousin" "M" "" "Oman" "" "0" "" "" "Middle-East" "Fam10PatC" "00470124" "" "" "" "2" "" "00006" "{PMID:Reis 2021:34046667}" "family, 2 affected" "M" "" "Taiwan" "" "0" "" "" "Asia-E" "Fam11PatA" "00470125" "" "" "00470124" "1" "" "00006" "{PMID:Reis 2021:34046667}" "brother" "M" "" "Taiwan" "" "0" "" "" "Asia-E" "Fam11PatB" "00470126" "" "" "" "1" "" "00006" "{PMID:Reis 2021:34046667}" "family, 1 affected" "F" "" "China" "" "0" "" "" "Asia-E" "Fam12" "00470127" "" "" "" "1" "" "00006" "{PMID:Reis 2021:34046667}" "family, 1 affected" "F" "" "India" "" "0" "" "" "Asia-E" "Fam13" "00470128" "" "" "" "2" "" "00006" "{PMID:Reis 2021:34046667}" "family, 2 affected" "F" "" "Pakistan" "" "0" "" "" "Asia-S" "Fam14PatA" "00470129" "" "" "00470128" "1" "" "00006" "{PMID:Reis 2021:34046667}" "sister" "F" "" "Pakistan" "" "0" "" "" "Asia-S" "Fam14PatB" "00470130" "" "" "" "4" "" "00006" "{PMID:Reis 2021:34046667}" "family, 4 affected" "F" "" "Czech Republic" "" "0" "" "" "white" "Fam15PatA" "00470131" "" "" "00470130" "1" "" "00006" "{PMID:Reis 2021:34046667}" "son" "M" "" "Czech Republic" "" "0" "" "" "white" "Fam15PatB" "00470132" "" "" "00470130" "1" "" "00006" "{PMID:Reis 2021:34046667}" "sister" "F" "" "Czech Republic" "" "0" "" "" "white" "Fam15PatC" "00470133" "" "" "00470130" "1" "" "00006" "{PMID:Reis 2021:34046667}" "father" "M" "" "Czech Republic" "" "0" "" "" "white" "Fam15PatD" "00470134" "" "" "" "5" "" "00006" "{PMID:Reis 2021:34046667}" "family, 5 affected" "M" "" "Czech Republic" "" "0" "" "" "white" "Fam16PatA" "00470135" "" "" "00470134" "1" "" "00006" "{PMID:Reis 2021:34046667}" "daughter" "F" "" "Czech Republic" "" "0" "" "" "white" "Fam16PatB" "00470136" "" "" "00470134" "1" "" "00006" "{PMID:Reis 2021:34046667}" "daughter" "F" "" "Czech Republic" "" "0" "" "" "white" "Fam16PatC" "00470137" "" "" "00470134" "1" "" "00006" "{PMID:Reis 2021:34046667}" "niece" "F" "" "Czech Republic" "" "0" "" "" "white" "Fam16PatD" "00470138" "" "" "00470134" "1" "" "00006" "{PMID:Reis 2021:34046667}" "mother" "F" "" "Czech Republic" "" "0" "" "" "white" "Fam16PatE" "00470141" "" "" "" "1" "" "00006" "{PMID:Ernst 2022:35051625}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "India" "" "0" "" "" "" "Pat1" "00470142" "" "" "" "1" "" "00006" "{PMID:Ernst 2022:35051625}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "Pakistan" "" "0" "" "" "" "Pat2" "00470143" "" "" "" "1" "" "00006" "{PMID:Ernst 2022:35051625}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "England" "" "0" "" "" "" "Pat4" "00470144" "" "" "" "1" "" "00006" "{PMID:Ernst 2022:35051625}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "China" "" "0" "" "" "" "Pat5" "00470145" "" "" "" "1" "" "00006" "{PMID:Ernst 2022:35051625}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "India" "" "0" "" "" "" "Pat7" "00470146" "" "" "" "1" "" "00006" "{PMID:Ernst 2022:35051625}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "" "" "0" "" "" "Middle-East" "Pat8" "00470147" "" "" "" "1" "" "00006" "{PMID:Ernst 2022:35051625}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "yes" "" "" "0" "" "" "Middle-East" "Pat9" "00470148" "" "" "" "1" "" "00006" "{PMID:Ernst 2022:35051625}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "India" "" "0" "" "" "" "Pat13" "00470149" "" "" "" "1" "" "00006" "{PMID:Ernst 2022:35051625}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "yes" "United States" "" "0" "" "" "Europe" "Pat14" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 120 "{{individualid}}" "{{diseaseid}}" "00025007" "00198" "00025009" "00198" "00064777" "00296" "00064778" "00198" "00064987" "00198" "00064988" "00198" "00064989" "00198" "00064990" "00198" "00064991" "00296" "00064992" "02923" "00064993" "02923" "00064994" "02923" "00064995" "02923" "00064996" "00296" "00064997" "02923" "00064999" "02923" "00065000" "02923" "00065002" "00296" "00065003" "01178" "00065004" "00356" "00065005" "00356" "00065007" "00356" "00065008" "00356" "00065009" "00356" "00065010" "00296" "00065011" "02923" "00065013" "02923" "00164722" "00198" "00260859" "00296" "00382116" "01180" "00384350" "00198" "00385466" "04214" "00385496" "04214" "00385525" "04214" "00411261" "01180" "00434075" "00296" "00434129" "00296" "00434190" "00296" "00440084" "00198" "00440085" "00198" "00440089" "00198" "00440090" "00198" "00445009" "00296" "00453739" "00152" "00468526" "00296" "00468527" "00296" "00468529" "02923" "00468530" "00198" "00468558" "00356" "00468559" "00356" "00468563" "02923" "00468564" "02923" "00468565" "02923" "00468902" "00198" "00468903" "00198" "00469699" "02923" "00469700" "00296" "00469701" "00296" "00469702" "02923" "00469703" "02923" "00469704" "00356" "00469705" "00356" "00469706" "00356" "00469707" "00356" "00469708" "00356" "00469709" "00356" "00469710" "00356" "00469713" "00356" "00469714" "00356" "00469939" "07204" "00469943" "00356" "00469989" "07204" "00469991" "00356" "00469992" "00356" "00469993" "00356" "00469994" "00325" "00469994" "00356" "00469995" "00356" "00469996" "00356" "00470031" "00325" "00470108" "00198" "00470109" "00198" "00470110" "00198" "00470111" "00198" "00470112" "00198" "00470113" "00198" "00470114" "00198" "00470115" "00198" "00470116" "00198" "00470117" "00198" "00470118" "00198" "00470119" "00198" "00470120" "00198" "00470121" "00198" "00470122" "00198" "00470123" "00198" "00470124" "00198" "00470125" "00198" "00470126" "00198" "00470127" "00198" "00470128" "00198" "00470129" "00198" "00470130" "00198" "00470131" "00198" "00470132" "00198" "00470133" "00198" "00470134" "00198" "00470135" "00198" "00470136" "00198" "00470137" "00198" "00470138" "00198" "00470141" "00198" "00470142" "00198" "00470143" "00198" "00470144" "00198" "00470145" "00198" "00470146" "00198" "00470147" "00198" "00470148" "00198" "00470149" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00152, 00198, 00296, 00325, 00356, 01178, 01180, 02923, 04214, 05644, 05645, 07204 ## Count = 113 "{{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}}" "0000021128" "00198" "00025009" "01155" "Familial, autosomal recessive" "" "Aphakia, primary\r\nCongenital corneal opacity" "" "" "" "" "" "" "" "" "" "" "" "0000051145" "02923" "00064999" "01588" "Familial, autosomal recessive" "" "congenital primary aphakia, microphthalmia, sclerocornea" "" "" "" "" "" "" "" "" "" "" "" "0000051146" "02923" "00064997" "01588" "Familial, autosomal recessive" "" "congenital primary aphasia, microphthalmia, sclerocornea" "" "" "" "" "" "" "" "" "" "" "" "0000051147" "00296" "00064777" "01588" "Familial, autosomal dominant" "" "primary phenotype congenital cataract, other eye anomalies include anterior segment dysgenesis, Peters anomaly" "" "" "" "" "" "" "" "" "" "" "" "0000051148" "00296" "00064991" "01588" "Unknown" "" "congenital cataract as primary phenotype, corneal opacity, Peters anomaly" "" "" "" "" "" "" "" "" "" "" "" "0000051149" "02923" "00064992" "01588" "Familial, autosomal recessive" "" "congenital primary aphasia as primary phenotype, aplasia of the anterior segment of the eye, iris absent, microphthalmia, retinal dysplasia" "" "" "" "" "" "" "" "" "" "" "" "0000051150" "02923" "00064993" "01588" "Familial, autosomal recessive" "" "congenital primary aphasia, glaucoma, microcornea, Peters anomaly, sclerocornea" "" "" "" "" "" "" "" "" "" "" "" "0000051151" "02923" "00064994" "01588" "Familial, autosomal recessive" "" "congenital primary aphakia, microphthalmia, corneal opacity, iris absent" "" "" "" "" "" "" "" "" "" "" "" "0000051152" "02923" "00064995" "01588" "Familial, autosomal dominant" "" "congenital cataract and primary aphasia, coloboma, microphthalmia, sclerocornea, Peters anomaly" "" "" "" "" "" "" "" "" "" "" "" "0000051153" "00296" "00064996" "01588" "Familial, autosomal dominant" "" "congenital cataract, chorioretinal coloboma, microphthalmia, microcornea" "" "" "" "" "" "" "" "" "" "" "" "0000051154" "02923" "00065000" "01588" "Familial, autosomal recessive" "" "congenital primary aphakia" "" "" "" "" "" "" "" "" "" "" "" "0000051155" "00296" "00065002" "01588" "Unknown" "" "congenital cataract" "" "" "" "" "" "" "" "" "" "" "" "0000051156" "01178" "00065003" "01588" "Unknown" "" "lens opacity, aniridia, corneal limbal insufficiency, nystagmus, severe axile myopia, posterior capsular reaction after lens surgery" "" "" "" "" "" "" "" "" "" "" "" "0000051157" "00356" "00065004" "01588" "Familial, autosomal recessive" "" "lens defects, microphthalmia and sclerocornea; absence of iris, lens and optic disc" "" "" "" "" "" "" "" "" "" "" "" "0000051158" "00356" "00065005" "01588" "Familial, autosomal recessive" "" "lens defects, microphthalmia and sclerocornea; absence of iris, lens and optic disc" "" "" "" "" "" "" "" "" "" "" "" "0000051159" "00356" "00065007" "01588" "Familial, autosomal recessive" "" "aphakia, abnormal anterior segment of the eye, dysplastic irides, microphthalmia, sclerocornea" "" "" "" "" "" "" "" "" "" "" "" "0000051160" "00356" "00065008" "01588" "Familial, autosomal recessive" "" "aphakia, corneal opacity, glaucoma, microphthalmia" "" "" "" "" "" "" "" "" "" "" "" "0000051161" "00356" "00065009" "01588" "Familial, autosomal recessive" "" "absence of anterior segment, corneal opacity, coloboma, glaucoma, microphthalmia" "" "" "" "" "" "" "" "" "" "" "" "0000051162" "00296" "00065010" "01588" "Unknown" "" "congenital cataract, vitreoretinal dysplasia, neurodevelopmental delay, joint laxity" "" "" "" "" "" "" "" "" "" "" "" "0000051163" "02923" "00065011" "01588" "Familial, autosomal recessive" "" "congenital primary aphakia, anophthalmia, corneal opacity" "" "" "" "" "" "" "" "" "" "" "" "0000051165" "02923" "00065013" "00006" "Familial, autosomal recessive" "" "see paper; ...," "" "" "" "" "" "" "" "" "" "" "" "0000129761" "00198" "00164722" "01807" "Unknown" "" "HP:0001724 (Aortic dilatation)" "" "" "" "" "" "" "" "" "" "" "" "0000199391" "00296" "00260859" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "CTRCT-34" "congenital cataract" "" "0000275958" "01180" "00382116" "00000" "Familial, autosomal dominant" "" "anterior segment developmental anomalies including glaucoma; MIM, 107250" "" "" "" "" "" "" "" "" "" "MIM, 107250" "" "0000278135" "00198" "00384350" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Congenital motor nystagmus" "" "0000279261" "04214" "00385466" "00000" "Familial, autosomal recessive" "" "" "<1y" "" "" "" "" "" "" "" "bilateral paediatric cataract" "congenital cataracts; trisomy 21" "" "0000279291" "04214" "00385496" "00000" "Familial, autosomal recessive" "" "" "<1y" "" "" "" "" "" "" "" "bilateral paediatric cataract" "congenital cataracts" "" "0000279320" "04214" "00385525" "00000" "Familial, autosomal recessive" "" "" "<1y" "" "" "" "" "" "" "" "bilateral anterior segment dysgenesis (ASD) including congenital glaucoma" "anterior segment dysgnenesis" "" "0000303337" "01180" "00411261" "01164" "Familial, autosomal recessive" "" "Visual impairment, Abnormal eye morphology, Congenital primary aphakia" "" "" "" "" "" "" "" "" "" "1y" "" "0000324451" "00296" "00434075" "00006" "Familial, autosomal dominant" "" "bilateral total cataract" "" "" "" "" "" "" "" "" "" "cataract" "" "0000324483" "00296" "00434129" "00006" "Familial, autosomal dominant" "" "see paper; ..., nuclear cataract, white opacities" "" "" "" "" "" "" "" "" "CTRCT1" "cataract" "" "0000324548" "00296" "00434190" "00006" "Isolated (sporadic)" "22y" "" "" "" "" "" "" "" "" "" "" "congenital cataract" "" "0000329982" "00198" "00440084" "04543" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "anophthalmia" "" "0000329983" "00198" "00440085" "04543" "Familial, autosomal recessive" "" "see paper; ..., anterior segment dysgenesis" "" "" "" "" "" "" "" "" "" "microphthalmia" "" "0000329987" "00198" "00440089" "04543" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "microphthalmia" "" "0000329988" "00198" "00440090" "04543" "Familial, autosomal recessive" "" "see paper; ..., anterior segment dysgenesis" "" "" "" "" "" "" "" "" "" "microphthalmia" "" "0000334260" "00296" "00445009" "00006" "Familial, autosomal dominant" "" "early onset adult cataract (40s), retinal detachment" "" "" "" "" "" "" "" "" "" "cataract" "" "0000342396" "00152" "00453739" "00006" "Unknown" "" "mitral valve prolapse, root aneurysm" "" "" "" "" "" "" "" "" "" "bicuspid aortic valve" "" "0000353678" "00296" "00468526" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "congenital cataract" "" "0000353679" "00296" "00468527" "00006" "Unknown" "" "aniridia, corneal limbal insufficiency, nystagmus, severe axile myopia, mild lens opacities, fibrous posterior capsular reaction after lens surgery" "" "" "" "" "" "" "" "" "" "congenital cataract" "" "0000353682" "02923" "00468529" "00006" "Familial, autosomal dominant" "" "see paper; ..., anterior segment dysgenesis, Peters anomaly" "" "" "" "" "" "" "" "" "ASGD2" "anterior segment dysgenesis" "" "0000353683" "00198" "00468530" "00006" "Familial, autosomal recessive" "" "see paper; ..., sclerocornea, aphakia, microphthalmia; bilateral ocular malformation, absence of identifiable corneal structures, no anatomic limbal delimitation between cornea and sclera; no intellectual disability; no extraocular malformations; flat cornea, absent anterior chamber eye, keratomalacia, ectropion, increased intraocular pressure" "" "" "" "" "" "" "" "" "" "sclerocornea, aphakia, microphthalmia" "" "0000353711" "00356" "00468558" "00006" "Familial, autosomal recessive" "7y" "microphthalmia, sclerocornea; MRI brain normal; intellectual disability;" "" "" "" "" "" "" "" "" "ASGD2" "anophthalmia/microphthalmia" "" "0000353712" "00356" "00468559" "00006" "Familial, autosomal recessive" "23y" "microphthalmia, sclerocornea; MRI brain normal; no intellectual disability; polycystic ovarian syndrome" "" "" "" "" "" "" "" "" "ASGD2" "anophthalmia/microphthalmia" "" "0000353717" "02923" "00468563" "00006" "Familial, autosomal recessive" "" "see paper; ..., primary aphakia, bilateral congenital corneal opacity, glaucoma; iridocorneal adhesion" "" "" "" "" "" "" "" "" "ASGD2" "ocular anterior segment disease" "" "0000353718" "02923" "00468564" "00006" "Familial, autosomal recessive" "" "see paper; ..., primary aphakia, bilateral congenital corneal opacity, glaucoma" "" "" "" "" "" "" "" "" "ASGD2" "ocular anterior segment disease" "" "0000353719" "02923" "00468565" "00006" "Familial, autosomal recessive" "" "see paper; ..., primary aphakia, bilateral congenital corneal opacity, glaucoma" "" "" "" "" "" "" "" "" "ASGD2" "ocular anterior segment disease" "" "0000354055" "00198" "00468902" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "abnormality of the eye" "" "0000354056" "00198" "00468903" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "abnormality of the eye" "" "0000354851" "02923" "00469699" "00006" "Familial, autosomal recessive" "" "see paper; ..., Peters anomaly, bilateral corneal opacities, developmental glaucoma, iris–retina coloboma (3/4), anterior segment dysgenesis, iridolenticular adhesions, nystagmus (3/4); no skeletal abnormalities, no physical disabilities, no cardiovascular diseases, no intellectual disability" "" "" "" "" "" "" "" "" "ASGD2" "Peters anomaly" "" "0000354852" "00296" "00469700" "00006" "Familial, autosomal recessive" "" "see paper; ..., isolated congenital cataracts" "" "" "" "" "" "" "" "" "CTRCT34" "isolated congenital cataracts" "" "0000354853" "00296" "00469701" "00006" "Familial, autosomal recessive" "" "see paper; ..., isolated congenital cataract" "" "" "" "" "" "" "" "" "CTRCT34" "isolated congenital cataract" "" "0000354854" "02923" "00469702" "00006" "Familial, autosomal recessive" "" "see paper; ..., severe bilateral ocular dysgenesis, unilateral staphylomatous malformation, complex microphthalmos, bilateral aphakia, unilateral anterior staphyloma" "" "" "" "" "" "" "" "" "ASGD2" "anterior segment dysgenesis" "" "0000354855" "02923" "00469703" "00006" "Familial, autosomal recessive" "" "see paper; ..., bilateral microphthalmia, corneal opacity, anterior segment dysgenesis" "" "" "" "" "" "" "" "" "ASGD2" "anterior segment dysgenesis" "" "0000354856" "00356" "00469704" "00006" "Familial, autosomal recessive" "" "biilateral microphthalmia; Arnold-Chiari malformation" "" "" "" "" "" "" "" "" "" "microphthalmia" "" "0000354857" "00356" "00469705" "00006" "Familial, autosomal recessive" "" "left microphthalmia, left sclerocornea, right Peters’ anomaly" "" "" "" "" "" "" "" "" "" "microphthalmia" "" "0000354858" "00356" "00469706" "00006" "Familial, autosomal recessive" "" "unilateral microphthalmia, bilateral sclerocornea" "" "" "" "" "" "" "" "" "" "microphthalmia" "" "0000354859" "00356" "00469707" "00006" "Familial, autosomal recessive" "" "biilateral complex microphthalmia, sclerocornea; global developmental delay; ventricular septal defect" "" "" "" "" "" "" "" "" "" "microphthalmia" "" "0000354860" "00356" "00469708" "00006" "Familial, autosomal recessive" "" "bilateral complex microphthalmia, sclerocornea" "" "" "" "" "" "" "" "" "" "microphthalmia" "" "0000354861" "00356" "00469709" "00006" "Familial, autosomal recessive" "" "bilateral microphthalmia, sclerocornea" "" "" "" "" "" "" "" "" "" "microphthalmia" "" "0000354862" "00356" "00469710" "00006" "Unknown" "" "microphthalmia-anophthalmia-coloboma" "" "" "" "" "" "" "" "" "" "microphthalmia-anophthalmia-coloboma" "" "0000354865" "00356" "00469713" "00006" "Familial, autosomal recessive" "06y" "see paper; ..., bilateral total sclerocornea, aphakia, microphthalmia; right total corneal opacity, flat cornea" "" "" "" "" "" "" "" "" "" "microphthalmia" "" "0000354866" "00356" "00469714" "00006" "Familial, autosomal recessive" "11y" "see paper; ..., bilateral total sclerocornea; bilateral poor visual acuity (light perception)" "" "" "" "" "" "" "" "" "" "sclerocornea" "" "0000355084" "07204" "00469939" "00006" "Familial, autosomal recessive" "6y" "see paper; ..., bilateral Peters anomaly" "" "" "" "" "" "" "" "" "ASGD2" "anterior segment dysgenesis" "" "0000355088" "00356" "00469943" "00006" "Familial, autosomal recessive" "2.5y" "see paper; ..., isolated microphthalmia/anophthalmia" "" "" "" "" "" "" "" "" "ASGD2" "microphthalmia" "" "0000355134" "07204" "00469989" "00006" "Familial, autosomal recessive" "" "see paper; ..., congenital anterior segment dysgenesis, keratoconus, congenital bilateral corneal haze, microphthalmia" "" "" "" "" "" "" "" "" "ASGD2" "anterior segment dysgenesis" "" "0000355136" "00356" "00469991" "00006" "Familial, autosomal recessive" "20y" "see paper; ..., bilateral anophthalmia; no vision sense, no hearing loss, normal development" "" "" "" "" "" "" "" "" "" "anophthalmia" "" "0000355137" "00356" "00469992" "00006" "Familial, autosomal recessive" "16y" "see paper; ..., bilateral anophthalmia; normal vision, no hearing loss, normal development; no facial dysmorphism; normall limbs, normal joints" "" "" "" "" "" "" "" "" "" "anophthalmia" "" "0000355138" "00356" "00469993" "00006" "Familial, autosomal recessive" "13y" "see paper; ..., 1d-bilateral anophthalmia; normal development, no facial dysmorphism, normal skin, normal limbs" "" "" "" "" "" "" "" "" "" "anophthalmia" "" "0000355139" "00356" "00469994" "00006" "Familial, autosomal recessive" "8y" "see paper; ..., 1d-bilateral anophthalmia, small palpable fissures, no vision, hearing loss; global developmental delay; aphasia, unable to carry out routine activities" "" "" "" "" "" "" "" "" "SPG50" "anophthalmia, spastic paraplegi" "" "0000355140" "00356" "00469995" "00006" "Familial, autosomal recessive" "7y" "see paper; ..., 1d- bilateral anophthalmia; global developmental delay; nutritional anemia, recurrent chest infections; microcephaly; hearing loss, aphasia, irritable, emaciated look, hyper pigmented, normal limbs, no contractures, no facial dysmorphisms, no asymmetry, no scar marks" "" "" "" "" "" "" "" "" "" "anophthalmia" "" "0000355141" "00356" "00469996" "00006" "Familial, autosomal recessive" "7y" "see paper; ..., 1d-vision impairment; developmentally delay, behavioral issues, hearing loss; 7y-no stand without support, no speech" "" "" "" "" "" "" "" "" "" "anophthalmia" "" "0000355176" "00325" "00470031" "00006" "Familial, autosomal recessive" "14y8m" "see paper; ..., non-syndromic, bilateral anterior cataract" "1d" "" "" "" "" "" "" "" "" "bilateral anterior cataract" "" "0000355253" "00198" "00470108" "00006" "Familial, autosomal recessive" "1y" "see paper; ..., severe microphthalmia; severe corneal opacity, microcornea; optic nerve coloboma" "" "" "" "" "" "" "" "" "" "microphthalmia" "" "0000355254" "00198" "00470109" "00006" "Familial, autosomal recessive" "" "see paper; ..., microphthalmia; sclerocornea; nystagmus" "" "" "" "" "" "" "" "" "" "microphthalmia" "" "0000355255" "00198" "00470110" "00006" "Familial, autosomal recessive" "" "see paper; ..., microphthalmia; sclerocornea; nystagmus" "" "" "" "" "" "" "" "" "" "microphthalmia" "" "0000355256" "00198" "00470111" "00006" "Familial, autosomal recessive" "" "see paper; ..., microphthalmia; sclerocornea; nystagmus" "" "" "" "" "" "" "" "" "" "microphthalmia" "" "0000355257" "00198" "00470112" "00006" "Familial, autosomal recessive" "3m" "see paper; ..., left microphthalmia; corneal opacity, microcornea; primary aphakia; iris hypoplasia, iridocorneal adhesions; congenital glaucoma" "" "" "" "" "" "" "" "" "" "microphthalmia" "" "0000355258" "00198" "00470113" "00006" "Familial, autosomal recessive" "5m" "see paper; ..., microphthalmia (L>R); complete corneal opacity, left microcornea; right primary aphakia, left lens remnant attached to cornea; no view; congenital glaucoma" "" "" "" "" "" "" "" "" "" "microphthalmia" "" "0000355259" "00198" "00470114" "00006" "Familial, autosomal recessive" "31y" "see paper; ..., right mild microphthalmia; left microcornea; left anterior polar cataract; left iris hypoplasia; anterior segment dysgenesis, congenital glaucoma" "" "" "" "" "" "" "" "" "" "microphthalmia" "" "0000355260" "00198" "00470115" "00006" "Familial, autosomal recessive" "16y" "see paper; ..., microphthalmia; sclerocornea; primary aphakia; aniridia" "" "" "" "" "" "" "" "" "" "microphthalmia" "" "0000355261" "00198" "00470116" "00006" "Familial, autosomal recessive" "25y" "see paper; ..., left microphthalmia; sclerocornea; no view; no view; glaucoma, nystagmus" "" "" "" "" "" "" "" "" "" "microphthalmia" "" "0000355262" "00198" "00470117" "00006" "Familial, autosomal recessive" "31y" "see paper; ..., microphthalmia; sclerocornea; primary aphakia; no view; nystagmus" "" "" "" "" "" "" "" "" "" "microphthalmia" "" "0000355263" "00198" "00470118" "00006" "Familial, autosomal recessive" "U" "see paper; ..., microphthalmia;" "" "" "" "" "" "" "" "" "" "microphthalmia" "" "0000355264" "00198" "00470119" "00006" "Familial, autosomal recessive" "13y" "see paper; ..., left microphthalmia; corneal opacity; no view; no view; optic nerve atrophy, right congenital glaucoma" "" "" "" "" "" "" "" "" "" "microphthalmia" "" "0000355265" "00198" "00470120" "00006" "Familial, autosomal recessive" "9y" "see paper; ..., right severe microphthalmia; corneal opacity; no view; no view; congenital glaucoma , right phthisis" "" "" "" "" "" "" "" "" "" "microphthalmia" "" "0000355266" "00198" "00470121" "00006" "Familial, autosomal recessive" "6y" "see paper; ..., sclerocornea; primary aphakia; congenital glaucoma" "" "" "" "" "" "" "" "" "" "sclerocornea" "" "0000355267" "00198" "00470122" "00006" "Familial, autosomal recessive" "10m" "see paper; ..., sclerocornea; no view; congenital glaucoma" "" "" "" "" "" "" "" "" "" "sclerocornea" "" "0000355268" "00198" "00470123" "00006" "Familial, autosomal recessive" "2y" "see paper; ..., sclerocornea; primary aphakia; congenital glaucoma" "" "" "" "" "" "" "" "" "" "sclerocornea" "" "0000355269" "00198" "00470124" "00006" "Familial, autosomal recessive" "37y" "see paper; ..., microphthalmia; sclerocornea; right primary aphakia" "" "" "" "" "" "" "" "" "" "microphthalmia" "" "0000355270" "00198" "00470125" "00006" "Familial, autosomal recessive" "38y" "see paper; ..., microphthalmia; sclerocornea" "" "" "" "" "" "" "" "" "" "microphthalmia" "" "0000355271" "00198" "00470126" "00006" "Familial, autosomal recessive" "8m" "see paper; ..., sclerocornea; primary aphakia; aniridia; congenital glaucoma" "" "" "" "" "" "" "" "" "" "sclerocornea" "" "0000355272" "00198" "00470127" "00006" "Familial, autosomal recessive" "13y" "see paper; ..., microphthalmia; sclerocornea; primary aphakia" "" "" "" "" "" "" "" "" "" "microphthalmia" "" "0000355273" "00198" "00470128" "00006" "Familial, autosomal recessive" "3y" "see paper; ..., microphthalmia;" "" "" "" "" "" "" "" "" "" "microphthalmia" "" "0000355274" "00198" "00470129" "00006" "Familial, autosomal recessive" "U" "see paper; ..., microphthalmia;" "" "" "" "" "" "" "" "" "" "microphthalmia" "" "0000355275" "00198" "00470130" "00006" "Familial, autosomal dominant" "59y" "see paper; ..., posterior embryotoxon; cataract; corectopia, mild iris hypoplasia, iridocorneal adhesions; glaucoma" "" "" "" "" "" "" "" "" "" "embryotoxon" "" "0000355276" "00198" "00470131" "00006" "Familial, autosomal dominant" "39y" "see paper; ..., congenital cataract; glaucoma" "" "" "" "" "" "" "" "" "" "cataract" "" "0000355277" "00198" "00470132" "00006" "Familial, autosomal dominant" "57y" "see paper; ..., sclerocornea;" "" "" "" "" "" "" "" "" "" "sclerocornea" "" "0000355278" "00198" "00470133" "00006" "Familial, autosomal dominant" "87y" "see paper; ..., mild microcornea; congenital cataract; mild iris hypoplasia; glaucoma" "" "" "" "" "" "" "" "" "" "microcornea" "" "0000355279" "00198" "00470134" "00006" "Familial, autosomal dominant" "40y" "see paper; ..., posterior embryotoxon; congenital cataract; mild iris hypoplasia" "" "" "" "" "" "" "" "" "" "embryotoxon" "" "0000355280" "00198" "00470135" "00006" "Familial, autosomal dominant" "3.5y" "see paper; ..., sclerocornea; no view; nystagmus" "" "" "" "" "" "" "" "" "" "sclerocornea" "" "0000355281" "00198" "00470136" "00006" "Familial, autosomal dominant" "55y" "see paper; ..., posterior embryotoxon; cataract; mild iris hypoplasia" "" "" "" "" "" "" "" "" "" "embryotoxon" "" "0000355282" "00198" "00470137" "00006" "Familial, autosomal dominant" "20y" "see paper; ..., posterior embryotoxon; cataract; iridocorneal adhesions, mild iris hypoplasia" "" "" "" "" "" "" "" "" "" "embryotoxon" "" "0000355283" "00198" "00470138" "00006" "Familial, autosomal dominant" "76y" "see paper; ..., cataract" "" "" "" "" "" "" "" "" "" "cataract" "" "0000355286" "00198" "00470141" "00006" "Familial, autosomal recessive" "" "see paper; ..., bilateral aphakia; bilateral corneal ectasia" "" "6m" "" "" "" "" "" "" "" "aphakia" "" "0000355287" "00198" "00470142" "00006" "Familial, autosomal recessive" "" "see paper; ..., bilateral aphakia; left corneal ectasia; right microphthalmia" "" "3m" "" "" "" "" "" "" "" "aphakia" "" "0000355288" "00198" "00470143" "00006" "Familial, autosomal recessive" "" "see paper; ..., bilateral aphakia; bilateral corneal ectasia" "" "3m" "" "" "" "" "" "" "" "aphakia" "" "0000355289" "00198" "00470144" "00006" "Familial, autosomal recessive" "" "see paper; ..., bilateral aphakia; bilateral corneal ectasia" "" "1m" "" "" "" "" "" "" "" "aphakia" "" "0000355290" "00198" "00470145" "00006" "Familial, autosomal recessive" "" "see paper; ..., bilateral aphakia; right corneal ectasia; left microphthalmia" "" "1m15d" "" "" "" "" "" "" "" "aphakia" "" "0000355291" "00198" "00470146" "00006" "Familial, autosomal recessive" "" "see paper; ..., bilateral aphakia; bilateral corneal ectasia" "" "12y" "" "" "" "" "" "" "" "aphakia" "" "0000355292" "00198" "00470147" "00006" "Familial, autosomal recessive" "" "see paper; ..., bilateral aphakia; bilateral corneal ectasia" "" "5y" "" "" "" "" "" "" "" "aphakia" "" "0000355293" "00198" "00470148" "00006" "Familial, autosomal recessive" "" "see paper; ..., bilateral aphakia; bilateral microphthalmia" "" "3m" "" "" "" "" "" "" "" "aphakia" "" "0000355294" "00198" "00470149" "00006" "Familial, autosomal recessive" "" "see paper; ..., bilateral aphakia; bilateral corneal ectasia" "" "2m" "" "" "" "" "" "" "" "aphakia" "" ## Screenings ## Do not remove or alter this header ## ## Count = 134 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000025009" "00025007" "1" "01155" "01155" "2014-12-01 11:57:38" "" "" "SEQ" "DNA" "" "" "0000025010" "00025009" "1" "01155" "01155" "2014-12-01 12:26:03" "" "" "SEQ" "DNA" "" "" "0000064919" "00064777" "1" "01588" "01588" "2016-05-12 20:26:34" "00006" "2016-05-15 11:49:12" "SEQ" "DNA" "" "" "0000064921" "00064778" "1" "01588" "01588" "2016-05-12 20:42:45" "00006" "2016-05-15 14:41:51" "SEQ" "DNA" "" "" "0000065131" "00064987" "1" "01588" "01588" "2016-05-13 17:24:23" "00006" "2016-05-15 14:41:51" "SEQ" "DNA" "" "" "0000065132" "00064988" "1" "01588" "01588" "2016-05-13 19:01:47" "00006" "2016-05-15 14:41:51" "SEQ" "DNA" "" "" "0000065133" "00064989" "1" "01588" "01588" "2016-05-13 19:16:14" "00006" "2016-05-15 14:41:51" "SEQ" "DNA" "" "" "0000065134" "00064990" "1" "01588" "01588" "2016-05-13 19:24:19" "00006" "2016-05-15 14:41:51" "SEQ" "DNA" "" "" "0000065135" "00064991" "1" "01588" "01588" "2016-05-13 19:30:08" "00006" "2016-05-15 14:41:51" "SEQ" "DNA" "" "" "0000065136" "00064992" "1" "01588" "01588" "2016-05-13 19:43:53" "00006" "2016-05-15 14:41:51" "SEQ" "DNA" "" "" "0000065137" "00064993" "1" "01588" "01588" "2016-05-13 19:53:05" "00006" "2016-05-15 14:41:51" "SEQ" "DNA" "" "" "0000065138" "00064994" "1" "01588" "01588" "2016-05-13 19:56:55" "00006" "2016-05-15 14:41:51" "SEQ" "DNA" "" "" "0000065139" "00064995" "1" "01588" "01588" "2016-05-13 19:59:56" "00006" "2016-05-15 14:41:51" "SEQ" "DNA" "" "" "0000065140" "00064996" "1" "01588" "01588" "2016-05-13 20:02:23" "00006" "2016-05-15 14:41:51" "SEQ" "DNA" "" "" "0000065141" "00064997" "1" "01588" "01588" "2016-05-13 20:05:34" "00006" "2016-05-15 14:41:51" "SEQ" "DNA" "" "" "0000065142" "00064999" "1" "01588" "01588" "2016-05-13 20:10:13" "00006" "2016-05-15 14:41:51" "SEQ" "DNA" "" "" "0000065143" "00065000" "1" "01588" "01588" "2016-05-13 20:13:29" "00006" "2016-05-15 14:41:51" "SEQ" "DNA" "" "" "0000065145" "00065002" "1" "01588" "01588" "2016-05-13 20:18:24" "00006" "2016-05-15 14:41:51" "SEQ" "DNA" "" "" "0000065146" "00065003" "1" "01588" "01588" "2016-05-13 20:25:07" "00006" "2016-05-15 14:41:51" "SEQ" "DNA" "" "" "0000065147" "00065004" "1" "01588" "01588" "2016-05-13 20:29:22" "00006" "2016-05-15 14:41:51" "SEQ" "DNA" "" "" "0000065148" "00065005" "1" "01588" "01588" "2016-05-13 20:35:08" "00006" "2016-05-15 14:41:51" "SEQ" "DNA" "" "" "0000065149" "00065007" "1" "01588" "01588" "2016-05-13 20:49:12" "00006" "2016-05-15 14:41:51" "SEQ" "DNA" "" "" "0000065150" "00065008" "1" "01588" "01588" "2016-05-13 20:51:52" "00006" "2016-05-15 14:41:51" "SEQ" "DNA" "" "" "0000065151" "00065009" "1" "01588" "01588" "2016-05-13 21:05:19" "00006" "2016-05-15 14:41:51" "SEQ" "DNA" "" "" "0000065152" "00065010" "1" "01588" "01588" "2016-05-13 21:07:13" "00006" "2016-05-15 14:41:51" "SEQ" "DNA" "" "" "0000065153" "00065011" "1" "01588" "01588" "2016-05-13 21:08:58" "00006" "2016-05-15 14:41:51" "SEQ" "DNA" "" "" "0000065156" "00065013" "1" "00006" "00006" "2016-05-15 16:28:23" "" "" "SEQ" "DNA" "" "" "0000065157" "00065014" "1" "00006" "00006" "2016-05-15 17:26:13" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000065158" "00065015" "1" "00006" "00006" "2016-05-15 17:26:13" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000065159" "00065016" "1" "00006" "00006" "2016-05-15 17:26:13" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000065160" "00065017" "1" "00006" "00006" "2016-05-15 17:26:13" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000065161" "00065018" "1" "00006" "00006" "2016-05-15 17:26:13" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000065162" "00065019" "1" "00006" "00006" "2016-05-15 17:26:13" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000065163" "00065020" "1" "00006" "00006" "2016-05-15 17:26:13" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000065164" "00065021" "1" "00006" "00006" "2016-05-15 17:26:13" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000065165" "00065022" "1" "00006" "00006" "2016-05-15 17:26:13" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000065166" "00065023" "1" "00006" "00006" "2016-05-15 17:26:13" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000065167" "00065024" "1" "00006" "00006" "2016-05-15 17:26:13" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000065168" "00065025" "1" "00006" "00006" "2016-05-15 17:26:13" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000065169" "00065026" "1" "00006" "00006" "2016-05-15 17:26:13" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000065170" "00065027" "1" "00006" "00006" "2016-05-15 17:26:13" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000065171" "00065028" "1" "00006" "00006" "2016-05-15 17:26:13" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000165589" "00164722" "1" "01807" "01807" "2018-06-05 19:09:20" "" "" "SEQ" "DNA" "" "" "0000261963" "00260859" "1" "00006" "00006" "2019-08-09 10:06:50" "" "" "SEQ" "DNA" "" "" "0000383332" "00382116" "1" "00000" "03840" "2021-09-07 10:12:12" "" "" "SEQ-NG" "DNA" "blood" "" "0000385575" "00384350" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes" "0000386695" "00385466" "1" "00000" "03840" "2021-10-12 17:40:23" "" "" "SEQ-NG" "DNA" "blood" "114 genes panel tested" "0000386725" "00385496" "1" "00000" "03840" "2021-10-12 17:40:23" "" "" "SEQ-NG" "DNA" "blood" "114 genes panel tested" "0000386754" "00385525" "1" "00000" "03840" "2021-10-12 17:40:23" "" "" "SEQ-NG" "DNA" "blood" "45 genes panel tested" "0000412526" "00411261" "1" "01164" "01164" "2022-06-09 11:41:39" "" "" "SEQ-NG-I" "DNA" "" "" "0000435542" "00434075" "1" "00006" "00006" "2023-03-19 16:52:56" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000435596" "00434129" "1" "00006" "00006" "2023-03-20 14:55:46" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000435658" "00434190" "1" "00006" "00006" "2023-03-21 18:38:38" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000441566" "00440084" "1" "04543" "00006" "2023-06-21 08:45:00" "" "" "SEQ" "DNA" "Blood" "" "0000441567" "00440085" "1" "04543" "00006" "2023-06-21 08:45:00" "" "" "SEQ" "DNA" "Blood" "" "0000441571" "00440089" "1" "04543" "00006" "2023-06-21 08:45:00" "" "" "SEQ" "DNA" "Blood" "" "0000441572" "00440090" "1" "04543" "00006" "2023-06-21 08:45:00" "" "" "SEQ" "DNA" "Blood" "" "0000446578" "00445009" "1" "00006" "00006" "2023-12-29 15:44:26" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000455351" "00453739" "1" "00006" "00006" "2024-09-11 19:50:28" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000470193" "00468526" "1" "00006" "00006" "2025-11-10 14:17:21" "" "" "SEQ" "DNA" "" "" "0000470194" "00468527" "1" "00006" "00006" "2025-11-10 14:21:37" "" "" "SEQ" "DNA" "" "" "0000470196" "00468529" "1" "00006" "00006" "2025-11-10 14:30:35" "00006" "2025-11-10 14:42:03" "SEQ" "DNA" "" "" "0000470197" "00468530" "1" "00006" "00006" "2025-11-10 14:55:32" "" "" "SEQ" "DNA" "" "" "0000470225" "00468558" "1" "00006" "00006" "2025-11-10 17:03:53" "" "" "PCRq;SEQ" "DNA" "" "gene panel" "0000470226" "00468559" "1" "00006" "00006" "2025-11-10 17:03:53" "" "" "PCRq;SEQ" "DNA" "" "gene panel" "0000470230" "00468563" "1" "00006" "00006" "2025-11-10 19:00:29" "" "" "SEQ" "DNA" "" "" "0000470231" "00468564" "1" "00006" "00006" "2025-11-10 19:07:34" "" "" "SEQ" "DNA" "" "" "0000470232" "00468565" "1" "00006" "00006" "2025-11-10 19:10:49" "" "" "SEQ" "DNA" "" "" "0000470570" "00468902" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000470571" "00468903" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000471367" "00469699" "1" "00006" "00006" "2025-11-18 14:12:43" "" "" "SEQ" "DNA" "" "WES" "0000471368" "00469700" "1" "00006" "00006" "2025-11-18 14:20:32" "" "" "SEQ" "DNA" "" "" "0000471369" "00469701" "1" "00006" "00006" "2025-11-18 14:24:07" "" "" "SEQ" "DNA" "" "" "0000471370" "00469702" "1" "00006" "00006" "2025-11-18 14:30:52" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000471371" "00469703" "1" "00006" "00006" "2025-11-18 14:44:09" "" "" "SEQ" "DNA" "" "" "0000471372" "00469704" "1" "00006" "00006" "2025-11-18 16:59:18" "" "" "SEQ" "DNA" "" "" "0000471373" "00469705" "1" "00006" "00006" "2025-11-18 16:59:18" "" "" "SEQ" "DNA" "" "" "0000471374" "00469706" "1" "00006" "00006" "2025-11-18 16:59:18" "" "" "SEQ" "DNA" "" "" "0000471375" "00469707" "1" "00006" "00006" "2025-11-18 16:59:18" "" "" "SEQ" "DNA" "" "" "0000471376" "00469708" "1" "00006" "00006" "2025-11-18 16:59:18" "" "" "SEQ" "DNA" "" "" "0000471377" "00469709" "1" "00006" "00006" "2025-11-18 17:07:51" "" "" "SEQ" "DNA" "" "" "0000471378" "00469710" "1" "00006" "00006" "2025-11-18 17:11:20" "" "" "SEQ" "DNA" "" "" "0000471381" "00469713" "1" "00006" "00006" "2025-11-18 21:41:25" "" "" "SEQ" "DNA" "" "" "0000471382" "00469714" "1" "00006" "00006" "2025-11-18 21:46:20" "" "" "SEQ" "DNA" "" "" "0000471607" "00469939" "1" "00006" "00006" "2025-11-23 20:06:22" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000471611" "00469943" "1" "00006" "00006" "2025-11-24 10:10:01" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000471657" "00469989" "1" "00006" "00006" "2025-11-24 13:21:12" "00006" "2025-11-24 13:22:50" "SEQ;SEQ-NG" "DNA" "" "WES" "0000471659" "00469991" "1" "00006" "00006" "2025-11-25 14:51:24" "" "" "SEQ" "DNA" "" "" "0000471660" "00469992" "1" "00006" "00006" "2025-11-25 14:51:24" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000471661" "00469993" "1" "00006" "00006" "2025-11-25 14:51:24" "" "" "SEQ" "DNA" "" "" "0000471662" "00469994" "1" "00006" "00006" "2025-11-25 14:51:24" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000471663" "00469995" "1" "00006" "00006" "2025-11-25 14:51:24" "" "" "SEQ" "DNA" "" "" "0000471664" "00469996" "1" "00006" "00006" "2025-11-25 14:51:24" "" "" "SEQ" "DNA" "" "" "0000471699" "00470031" "1" "00006" "00006" "2025-11-25 19:19:02" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000471776" "00470108" "1" "00006" "00006" "2025-11-26 22:50:43" "" "" "SEQ" "DNA" "" "" "0000471777" "00470109" "1" "00006" "00006" "2025-11-26 22:50:43" "" "" "SEQ" "DNA" "" "" "0000471778" "00470110" "1" "00006" "00006" "2025-11-26 22:50:43" "" "" "SEQ" "DNA" "" "" "0000471779" "00470111" "1" "00006" "00006" "2025-11-26 22:50:43" "" "" "SEQ" "DNA" "" "" "0000471780" "00470112" "1" "00006" "00006" "2025-11-26 22:50:43" "" "" "SEQ" "DNA" "" "" "0000471781" "00470113" "1" "00006" "00006" "2025-11-26 22:50:43" "" "" "SEQ" "DNA" "" "" "0000471782" "00470114" "1" "00006" "00006" "2025-11-26 22:50:43" "" "" "SEQ" "DNA" "" "" "0000471783" "00470115" "1" "00006" "00006" "2025-11-26 22:50:43" "" "" "SEQ" "DNA" "" "" "0000471784" "00470116" "1" "00006" "00006" "2025-11-26 22:50:43" "" "" "SEQ" "DNA" "" "" "0000471785" "00470117" "1" "00006" "00006" "2025-11-26 22:50:43" "" "" "SEQ" "DNA" "" "" "0000471786" "00470118" "1" "00006" "00006" "2025-11-26 22:50:43" "" "" "SEQ" "DNA" "" "" "0000471787" "00470119" "1" "00006" "00006" "2025-11-26 22:50:43" "" "" "SEQ" "DNA" "" "" "0000471788" "00470120" "1" "00006" "00006" "2025-11-26 22:50:43" "" "" "SEQ" "DNA" "" "" "0000471789" "00470121" "1" "00006" "00006" "2025-11-26 22:50:43" "" "" "SEQ" "DNA" "" "" "0000471790" "00470122" "1" "00006" "00006" "2025-11-26 22:50:43" "" "" "SEQ" "DNA" "" "" "0000471791" "00470123" "1" "00006" "00006" "2025-11-26 22:50:43" "" "" "SEQ" "DNA" "" "" "0000471792" "00470124" "1" "00006" "00006" "2025-11-26 22:50:43" "" "" "SEQ" "DNA" "" "" "0000471793" "00470125" "1" "00006" "00006" "2025-11-26 22:50:43" "" "" "SEQ" "DNA" "" "" "0000471794" "00470126" "1" "00006" "00006" "2025-11-26 22:50:43" "" "" "SEQ" "DNA" "" "" "0000471795" "00470127" "1" "00006" "00006" "2025-11-26 22:50:43" "" "" "SEQ" "DNA" "" "" "0000471796" "00470128" "1" "00006" "00006" "2025-11-26 22:50:43" "" "" "SEQ" "DNA" "" "" "0000471797" "00470129" "1" "00006" "00006" "2025-11-26 22:50:43" "" "" "SEQ" "DNA" "" "" "0000471798" "00470130" "1" "00006" "00006" "2025-11-26 22:50:43" "" "" "SEQ" "DNA" "" "" "0000471799" "00470131" "1" "00006" "00006" "2025-11-26 22:50:43" "" "" "SEQ" "DNA" "" "" "0000471800" "00470132" "1" "00006" "00006" "2025-11-26 22:50:43" "" "" "SEQ" "DNA" "" "" "0000471801" "00470133" "1" "00006" "00006" "2025-11-26 22:50:43" "" "" "SEQ" "DNA" "" "" "0000471802" "00470134" "1" "00006" "00006" "2025-11-26 22:50:43" "" "" "SEQ" "DNA" "" "" "0000471803" "00470135" "1" "00006" "00006" "2025-11-26 22:50:43" "" "" "SEQ" "DNA" "" "" "0000471804" "00470136" "1" "00006" "00006" "2025-11-26 22:50:43" "" "" "SEQ" "DNA" "" "" "0000471805" "00470137" "1" "00006" "00006" "2025-11-26 22:50:43" "" "" "SEQ" "DNA" "" "" "0000471806" "00470138" "1" "00006" "00006" "2025-11-26 22:50:43" "" "" "SEQ" "DNA" "" "" "0000471809" "00470141" "1" "00006" "00006" "2025-11-27 15:32:56" "" "" "SEQ;SEQ-NG" "DNA" "" "59-gene panel" "0000471810" "00470142" "1" "00006" "00006" "2025-11-27 15:32:56" "" "" "SEQ;SEQ-NG" "DNA" "" "59-gene panel" "0000471811" "00470143" "1" "00006" "00006" "2025-11-27 15:32:56" "" "" "SEQ;SEQ-NG" "DNA" "" "59-gene panel" "0000471812" "00470144" "1" "00006" "00006" "2025-11-27 15:32:56" "" "" "SEQ;SEQ-NG" "DNA" "" "59-gene panel" "0000471813" "00470145" "1" "00006" "00006" "2025-11-27 15:32:56" "" "" "SEQ;SEQ-NG" "DNA" "" "59-gene panel" "0000471814" "00470146" "1" "00006" "00006" "2025-11-27 15:32:56" "" "" "SEQ;SEQ-NG" "DNA" "" "59-gene panel" "0000471815" "00470147" "1" "00006" "00006" "2025-11-27 15:32:56" "" "" "SEQ;SEQ-NG" "DNA" "" "59-gene panel" "0000471816" "00470148" "1" "00006" "00006" "2025-11-27 15:32:56" "" "" "SEQ;SEQ-NG" "DNA" "" "59-gene panel" "0000471817" "00470149" "1" "00006" "00006" "2025-11-27 15:32:56" "" "" "SEQ;SEQ-NG" "DNA" "" "59-gene panel" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 102 "{{screeningid}}" "{{geneid}}" "0000025009" "FOXE3" "0000025010" "FOXE3" "0000064919" "FOXE3" "0000064921" "FOXE3" "0000065131" "FOXE3" "0000065132" "FOXE3" "0000065133" "FOXE3" "0000065134" "FOXE3" "0000065135" "FOXE3" "0000065136" "FOXE3" "0000065137" "FOXE3" "0000065138" "FOXE3" "0000065139" "FOXE3" "0000065140" "FOXE3" "0000065141" "FOXE3" "0000065142" "FOXE3" "0000065143" "FOXE3" "0000065145" "FOXE3" "0000065146" "FOXE3" "0000065147" "FOXE3" "0000065148" "FOXE3" "0000065149" "FOXE3" "0000065150" "FOXE3" "0000065151" "FOXE3" "0000065152" "FOXE3" "0000065153" "FOXE3" "0000065156" "FOXE3" "0000065157" "FOXE3" "0000065158" "FOXE3" "0000065159" "FOXE3" "0000065160" "FOXE3" "0000065161" "FOXE3" "0000065162" "FOXE3" "0000065163" "FOXE3" "0000065164" "FOXE3" "0000065165" "FOXE3" "0000065166" "FOXE3" "0000065167" "FOXE3" "0000065168" "FOXE3" "0000065169" "FOXE3" "0000065170" "FOXE3" "0000065171" "FOXE3" "0000261963" "FOXE3" "0000383332" "FOXE3" "0000385575" "FOXE3" "0000386695" "FOXE3" "0000386725" "FOXE3" "0000386754" "FOXE3" "0000412526" "FOXE3" "0000470193" "FOXE3" "0000470194" "FOXE3" "0000470194" "PAX6" "0000470196" "FOXE3" "0000470197" "FOXE3" "0000470230" "FOXE3" "0000470231" "FOXE3" "0000470232" "FOXE3" "0000471367" "FOXE3" "0000471368" "FOXE3" "0000471369" "FOXE3" "0000471370" "FOXE3" "0000471371" "FOXE3" "0000471372" "FOXE3" "0000471373" "FOXE3" "0000471374" "FOXE3" "0000471375" "FOXE3" "0000471376" "FOXE3" "0000471377" "FOXE3" "0000471378" "FOXE3" "0000471381" "FOXE3" "0000471382" "FOXE3" "0000471776" "FOXE3" "0000471777" "FOXE3" "0000471778" "FOXE3" "0000471779" "FOXE3" "0000471780" "FOXE3" "0000471781" "FOXE3" "0000471782" "FOXE3" "0000471783" "FOXE3" "0000471784" "FOXE3" "0000471785" "FOXE3" "0000471786" "FOXE3" "0000471787" "FOXE3" "0000471788" "FOXE3" "0000471789" "FOXE3" "0000471790" "FOXE3" "0000471791" "FOXE3" "0000471792" "FOXE3" "0000471793" "FOXE3" "0000471794" "FOXE3" "0000471795" "FOXE3" "0000471796" "FOXE3" "0000471797" "FOXE3" "0000471798" "FOXE3" "0000471799" "FOXE3" "0000471800" "FOXE3" "0000471801" "FOXE3" "0000471802" "FOXE3" "0000471803" "FOXE3" "0000471804" "FOXE3" "0000471805" "FOXE3" "0000471806" "FOXE3" ## 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 = 221 "{{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}}" "0000047852" "0" "90" "1" "47882008" "47882011" "del" "0" "01155" "FOXE3_000001" "g.47882008_47882011del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.47416336_47416339del" "" "pathogenic" "" "0000047853" "3" "90" "1" "47882345" "47882345" "subst" "0" "01155" "FOXE3_000002" "g.47882345C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.47416673C>G" "" "pathogenic" "" "0000047854" "0" "90" "1" "47882256" "47882256" "subst" "8.76775E-5" "01155" "FOXE3_000003" "g.47882256G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.47416584G>T" "" "pathogenic" "" "0000047855" "0" "90" "1" "47882692" "47882692" "del" "0" "01155" "FOXE3_000004" "g.47882692del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.47417020del" "" "pathogenic" "" "0000096575" "21" "70" "1" "47882929" "47882929" "dup" "0" "01588" "FOXE3_000007" "g.47882929dup" "" "{PMID:Semina 2001:11159941}" "" "insG943" "frameshift variant, not in 180 control chromosomes" "Germline" "yes" "" "0" "" "" "g.47417257dup" "" "likely pathogenic" "" "0000096576" "0" "30" "1" "47882574" "47882574" "subst" "0.00656968" "01588" "FOXE3_000015" "g.47882574G>C" "23/251 individuals" "{PMID:Semina 2001:11159941}" "" "" "missense variant; 16/161 cases, 7/90 controls" "Germline" "" "" "0" "" "" "g.47416902G>C" "" "likely benign" "" "0000096787" "0" "30" "1" "47882885" "47882885" "subst" "0.00496888" "01588" "FOXE3_000019" "g.47882885A>G" "3/251 individuals" "{PMID:Semina 2001:11159941}" "" "" "missense variant; 2/161 cases, 1/90 controls" "Germline" "" "" "0" "" "" "g.47417213A>G" "" "likely benign" "" "0000096788" "0" "10" "1" "47882497" "47882497" "subst" "0.34783" "01588" "FOXE3_000012" "g.47882497C>T" "81/251 individuals" "{PMID:Semina 2001:11159941}" "" "" "silent variant; 48/161 cases, 33/90 controls" "Germline" "" "" "0" "" "" "g.47416825C>T" "" "benign" "" "0000096789" "0" "10" "1" "47882605" "47882605" "subst" "0.00758828" "01588" "FOXE3_000016" "g.47882605C>G" "18/251 individuals" "{PMID:Semina 2001:11159941}" "" "" "silent variant; 9/161 cases, 9/90 controls" "Germline" "" "" "0" "" "" "g.47416933C>G" "" "benign" "" "0000096790" "0" "10" "1" "47882815" "47882815" "subst" "0.000178968" "01588" "FOXE3_000018" "g.47882815C>G" "3/251 individuals" "{PMID:Semina 2001:11159941}" "" "" "silent variant; 1/161 cases, 2/90 controls" "Germline" "" "" "0" "" "" "g.47417143C>G" "" "benign" "" "0000096791" "0" "70" "1" "47882256" "47882256" "subst" "8.76775E-5" "01588" "FOXE3_000003" "g.47882256G>T" "" "{PMID:Ormestad 2002:11980846}" "" "" "" "Germline" "" "" "0" "" "" "g.47416584G>T" "" "likely pathogenic" "" "0000096792" "3" "70" "1" "47882707" "47882707" "subst" "0.000163163" "01588" "FOXE3_000006" "g.47882707C>A" "" "{PMID:Valleix 2006:16826526}" "" "" "" "Germline" "" "" "0" "" "" "g.47417035C>A" "" "likely pathogenic" "" "0000096793" "3" "70" "1" "47882231" "47882231" "subst" "9.51096E-5" "01588" "FOXE3_000010" "g.47882231A>G" "" "{PMID:Iseri 2009:19708017}, {DOI:Iseri 2009:10.1002/humu.21079}" "" "" "" "Germline" "" "" "0" "" "" "g.47416559A>G" "" "likely pathogenic" "" "0000096794" "3" "70" "1" "47882008" "47882011" "del" "0" "01588" "FOXE3_000001" "g.47882008_47882011del" "" "{PMID:Iseri 2009:19708017}, {DOI:Iseri 2009:10.1002/humu.21079}" "" "" "" "Germline" "" "" "0" "" "" "g.47416336_47416339del" "" "likely pathogenic" "" "0000096795" "1" "70" "1" "47882945" "47882945" "subst" "0" "01588" "FOXE3_000020" "g.47882945T>C" "" "{PMID:Iseri 2009:19708017}, {DOI:Iseri 2009:10.1002/humu.21079}" "" "" "" "Germline" "" "" "0" "" "" "g.47417273T>C" "" "likely pathogenic" "" "0000096796" "1" "70" "1" "47882133" "47882133" "subst" "0" "01588" "FOXE3_000009" "g.47882133G>C" "" "{PMID:Iseri 2009:19708017}, {DOI:Iseri 2009:10.1002/humu.21079}" "" "" "" "Germline" "" "" "0" "" "" "g.47416461G>C" "" "likely pathogenic" "" "0000096797" "3" "70" "1" "47882707" "47882707" "subst" "0.000163163" "01588" "FOXE3_000006" "g.47882707C>A" "" "{PMID:Ali 2010:20664696}" "" "" "homozygosity mapping; nonsense variant" "Germline" "yes" "" "0" "" "" "g.47417035C>A" "" "likely pathogenic" "" "0000096798" "3" "70" "1" "47882279" "47882279" "subst" "0" "01588" "FOXE3_000005" "g.47882279T>C" "" "{PMID:Ali 2010:20664696}" "" "" "" "Germline" "yes" "" "0" "" "" "g.47416607T>C" "" "likely pathogenic" "" "0000096799" "3" "70" "1" "47882707" "47882707" "subst" "0.000163163" "01588" "FOXE3_000006" "g.47882707C>A" "" "{PMID:Anjum 2010:20361012}" "" "" "" "Germline" "" "" "0" "" "" "g.47417035C>A" "" "likely pathogenic" "" "0000096801" "20" "90" "1" "47882946" "47882946" "subst" "0" "01588" "FOXE3_000008" "g.47882946G>C" "" "{PMID:Brémond-Gignac 2010:20806047}" "" "" "" "Germline" "" "" "0" "" "" "g.47417274G>C" "" "pathogenic (dominant)" "" "0000096802" "1" "70" "1" "47882558" "47882566" "dup" "0" "01588" "FOXE3_000014" "g.47882558_47882566dup" "" "{PMID:Brémond-Gignac 2010:20806048}" "" "" "" "Germline" "" "" "0" "" "" "g.47416886_47416894dup" "" "likely pathogenic" "" "0000096803" "1" "70" "1" "47882231" "47882231" "subst" "9.51096E-5" "01588" "FOXE3_000010" "g.47882231A>G" "" "{PMID:Reis 2010:20140963}, {DOI:Reis 2010:10.1002/ajmg.a.33257}" "" "" "" "Germline" "" "" "0" "" "" "g.47416559A>G" "" "likely pathogenic" "" "0000096804" "2" "70" "1" "47882692" "47882692" "del" "0" "01588" "FOXE3_000017" "g.47882692del" "" "{PMID:Reis 2010:20140963}, {DOI:Reis 2010:10.1002/ajmg.a.33257}" "" "" "" "Germline" "" "" "0" "" "" "g.47417020del" "" "likely pathogenic" "" "0000096805" "3" "70" "1" "47882544" "47882544" "del" "0" "01588" "FOXE3_000013" "g.47882544del" "" "{PMID:Reis 2010:20140963}, {DOI:Reis 2010:10.1002/ajmg.a.33257}" "" "" "" "Germline" "" "" "0" "" "" "g.47416872del" "" "likely pathogenic" "" "0000096806" "3" "70" "1" "47882707" "47882707" "subst" "0.000163163" "01588" "FOXE3_000006" "g.47882707C>A" "" "{PMID:Reis 2010:20140963}, {DOI:Reis 2010:10.1002/ajmg.a.33257}" "" "" "" "Germline" "" "" "0" "" "" "g.47417035C>A" "" "likely pathogenic" "" "0000096807" "3" "70" "1" "47882707" "47882707" "subst" "0.000163163" "01588" "FOXE3_000006" "g.47882707C>A" "" "{PMID:Reis 2010:20140963}, {DOI:Reis 2010:10.1002/ajmg.a.33257}" "" "" "" "Germline" "" "" "0" "" "" "g.47417035C>A" "" "likely pathogenic" "" "0000096808" "3" "70" "1" "47882707" "47882707" "subst" "0.000163163" "01588" "FOXE3_000006" "g.47882707C>A" "" "{PMID:Reis 2010:20140963}, {DOI:Reis 2010:10.1002/ajmg.a.33257}" "" "" "" "Germline" "" "" "0" "" "" "g.47417035C>A" "" "likely pathogenic" "" "0000096809" "1" "70" "1" "47882276" "47882276" "subst" "2.0558E-5" "01588" "FOXE3_000011" "g.47882276A>G" "" "{PMID:Gillespie 2014:25148791}" "" "" "" "Germline" "" "" "0" "" "" "g.47416604A>G" "" "likely pathogenic" "" "0000096810" "3" "90" "1" "47882276" "47882276" "subst" "2.0558E-5" "01588" "FOXE3_000011" "g.47882276A>G" "" "{PMID:Ullah 2016:26995144}" "" "" "" "Germline" "yes" "" "0" "" "" "g.47416604A>G" "" "pathogenic" "" "0000096813" "3" "90" "1" "47882008" "47882011" "del" "0" "00006" "FOXE3_000001" "g.47882008_47882011del" "" "{PMID:Ullah 2016:26995144}" "" "21_24delGGAT" "" "Germline" "yes" "" "0" "" "" "g.47416336_47416339del" "" "pathogenic" "" "0000096814" "1" "10" "1" "47882003" "47882003" "subst" "0.000690825" "00006" "FOXE3_000021" "g.47882003G>A" "5/682 controls" "{PMID:Reis 2010:20140963}, {DOI:Reis 2010:10.1002/ajmg.a.33257}" "" "" "5/158 African American controls" "Germline" "" "" "0" "" "" "g.47416331G>A" "" "benign" "" "0000096815" "1" "10" "1" "47882122" "47882122" "subst" "0" "00006" "FOXE3_000022" "g.47882122G>A" "1/682 controls" "{PMID:Reis 2010:20140963}, {DOI:Reis 2010:10.1002/ajmg.a.33257}" "" "" "1/110 Asian controls" "Germline" "" "" "0" "" "" "g.47416450G>A" "" "benign" "" "0000096816" "1" "30" "1" "47882133" "47882133" "subst" "0" "00006" "FOXE3_000009" "g.47882133G>C" "4/682 controls" "{PMID:Reis 2010:20140963}, {DOI:Reis 2010:10.1002/ajmg.a.33257}" "" "" "" "Germline" "" "" "0" "" "" "g.47416461G>C" "" "likely benign" "" "0000096817" "1" "10" "1" "47882145" "47882145" "subst" "0" "00006" "FOXE3_000023" "g.47882145C>T" "3/682 controls" "{PMID:Reis 2010:20140963}, {DOI:Reis 2010:10.1002/ajmg.a.33257}" "" "158C>T (P53P)" "3/110 Asian controls\r\nVariant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "benign" "" "0000096818" "1" "10" "1" "47882263" "47882263" "subst" "0.000215614" "00006" "FOXE3_000024" "g.47882263C>T" "1/682 controls" "{PMID:Reis 2010:20140963}, {DOI:Reis 2010:10.1002/ajmg.a.33257}" "" "" "1/158 African American controls" "Germline" "" "" "0" "" "" "g.47416591C>T" "" "benign" "" "0000096819" "1" "10" "1" "47882410" "47882410" "subst" "0.00226441" "00006" "FOXE3_000025" "g.47882410G>A" "6/748 controls" "{PMID:Reis 2010:20140963}, {DOI:Reis 2010:10.1002/ajmg.a.33257}" "" "" "6/166 African American controls" "Germline" "" "" "0" "" "" "g.47416738G>A" "" "benign" "" "0000096820" "1" "10" "1" "47882432" "47882432" "subst" "0" "00006" "FOXE3_000026" "g.47882432C>T" "1/748 controls" "{PMID:Reis 2010:20140963}, {DOI:Reis 2010:10.1002/ajmg.a.33257}" "" "" "1/168 Hispanic controls" "Germline" "" "" "0" "" "" "g.47416760C>T" "" "benign" "" "0000096821" "1" "10" "1" "47882497" "47882497" "subst" "0.34783" "00006" "FOXE3_000012" "g.47882497C>T" "233/748 controls" "{PMID:Reis 2010:20140963}, {DOI:Reis 2010:10.1002/ajmg.a.33257}" "" "" "" "Germline" "" "rs34082359" "0" "" "" "g.47416825C>T" "" "benign" "" "0000096822" "1" "10" "1" "47882514" "47882514" "subst" "0.00060619" "00006" "FOXE3_000027" "g.47882514C>T" "1/748 controls" "{PMID:Reis 2010:20140963}, {DOI:Reis 2010:10.1002/ajmg.a.33257}" "" "" "1/322 Caucasian controls" "Germline" "" "" "0" "" "" "g.47416842C>T" "" "benign" "" "0000096823" "1" "10" "1" "47882588" "47882588" "subst" "0.00429931" "00006" "FOXE3_000028" "g.47882588G>A" "5/748 controls" "{PMID:Reis 2010:20140963}, {DOI:Reis 2010:10.1002/ajmg.a.33257}" "" "" "" "Germline" "" "" "0" "" "" "g.47416916G>A" "" "benign" "" "0000096824" "1" "10" "1" "47882605" "47882605" "subst" "0.00758828" "00006" "FOXE3_000016" "g.47882605C>G" "12/748 controls" "{PMID:Reis 2010:20140963}, {DOI:Reis 2010:10.1002/ajmg.a.33257}" "" "" "" "Germline" "" "" "0" "" "" "g.47416933C>G" "" "benign" "" "0000096825" "1" "10" "1" "47882770" "47882770" "subst" "0" "00006" "FOXE3_000029" "g.47882770C>G" "1/748 controls" "{PMID:Reis 2010:20140963}, {DOI:Reis 2010:10.1002/ajmg.a.33257}" "" "" "1/92 Asian controls" "Germline" "" "" "0" "" "" "g.47417098C>G" "" "benign" "" "0000096826" "1" "10" "1" "47882818" "47882818" "subst" "0.000250179" "00006" "FOXE3_000030" "g.47882818C>T" "1/748 controls" "{PMID:Reis 2010:20140963}, {DOI:Reis 2010:10.1002/ajmg.a.33257}" "" "" "1/166 African American controls" "Germline" "" "" "0" "" "" "g.47417146C>T" "" "benign" "" "0000096827" "1" "10" "1" "47882885" "47882885" "subst" "0.00496888" "00006" "FOXE3_000019" "g.47882885A>G" "1/748 controls" "{PMID:Reis 2010:20140963}, {DOI:Reis 2010:10.1002/ajmg.a.33257}" "" "" "" "Germline" "" "" "0" "" "" "g.47417213A>G" "" "benign" "" "0000096828" "1" "10" "1" "47882916" "47882916" "subst" "0.0036151" "00006" "FOXE3_000031" "g.47882916G>A" "2/748 controls" "{PMID:Reis 2010:20140963}, {DOI:Reis 2010:10.1002/ajmg.a.33257}" "" "" "1/322 Caucasian controls" "Germline" "" "" "0" "" "" "g.47417244G>A" "" "benign" "" "0000245537" "0" "30" "1" "47882885" "47882885" "subst" "0.00496888" "02330" "FOXE3_000019" "g.47882885A>G" "" "" "" "FOXE3(NM_012186.3):c.898A>G (p.S300G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47417213A>G" "" "likely benign" "" "0000255905" "0" "50" "1" "47882391" "47882391" "subst" "9.01218E-5" "01943" "FOXE3_000035" "g.47882391A>G" "" "" "" "FOXE3(NM_012186.2):c.404A>G (p.E135G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47416719A>G" "" "VUS" "" "0000276890" "0" "10" "1" "47882221" "47882221" "subst" "0.00140845" "02330" "FOXE3_000033" "g.47882221G>A" "" "" "" "FOXE3(NM_012186.2):c.234G>A (p.A78=), FOXE3(NM_012186.3):c.234G>A (p.A78=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47416549G>A" "" "benign" "" "0000276891" "0" "10" "1" "47882410" "47882410" "subst" "0.00226441" "02330" "FOXE3_000025" "g.47882410G>A" "" "" "" "FOXE3(NM_012186.2):c.423G>A (p.K141=), FOXE3(NM_012186.3):c.423G>A (p.K141=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47416738G>A" "" "benign" "" "0000276892" "0" "30" "1" "47882818" "47882818" "subst" "0.000250179" "02330" "FOXE3_000030" "g.47882818C>T" "" "" "" "FOXE3(NM_012186.3):c.831C>T (p.G277=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47417146C>T" "" "likely benign" "" "0000287840" "0" "50" "1" "47882145" "47882145" "subst" "0" "01943" "FOXE3_000023" "g.47882145C>T" "" "" "" "FOXE3(NM_012186.2):c.158C>T (p.P53L), FOXE3(NM_012186.3):c.158C>T (p.P53L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47416473C>T" "" "VUS" "" "0000287841" "0" "30" "1" "47882212" "47882212" "subst" "0" "01943" "FOXE3_000032" "g.47882212G>T" "" "" "" "FOXE3(NM_012186.2):c.225G>T (p.S75=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47416540G>T" "" "likely benign" "" "0000287842" "0" "10" "1" "47882221" "47882221" "subst" "0.00140845" "01943" "FOXE3_000033" "g.47882221G>A" "" "" "" "FOXE3(NM_012186.2):c.234G>A (p.A78=), FOXE3(NM_012186.3):c.234G>A (p.A78=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47416549G>A" "" "benign" "" "0000287843" "0" "30" "1" "47882227" "47882227" "subst" "0.000215948" "01943" "FOXE3_000034" "g.47882227C>T" "" "" "" "FOXE3(NM_012186.2):c.240C>T (p.I80=), FOXE3(NM_012186.3):c.240C>T (p.I80=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47416555C>T" "" "likely benign" "" "0000287844" "0" "30" "1" "47882410" "47882410" "subst" "0.00226441" "01943" "FOXE3_000025" "g.47882410G>A" "" "" "" "FOXE3(NM_012186.2):c.423G>A (p.K141=), FOXE3(NM_012186.3):c.423G>A (p.K141=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47416738G>A" "" "likely benign" "" "0000287846" "0" "30" "1" "47882574" "47882574" "subst" "0.00656968" "01943" "FOXE3_000015" "g.47882574G>C" "" "" "" "FOXE3(NM_012186.2):c.587G>C (p.G196A, p.(Gly196Ala)), FOXE3(NM_012186.3):c.587G>C (p.G196A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47416902G>C" "" "likely benign" "" "0000287847" "0" "50" "1" "47882815" "47882815" "del" "0" "01943" "FOXE3_000037" "g.47882815del" "" "" "" "FOXE3(NM_012186.2):c.828delC (p.G277Afs*30)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47417143del" "" "VUS" "" "0000320818" "0" "30" "1" "47882574" "47882574" "subst" "0.00656968" "01804" "FOXE3_000015" "g.47882574G>C" "" "" "" "FOXE3(NM_012186.2):c.587G>C (p.G196A, p.(Gly196Ala)), FOXE3(NM_012186.3):c.587G>C (p.G196A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47416902G>C" "" "likely benign" "" "0000369314" "0" "50" "1" "47882181" "47882181" "subst" "0" "01807" "FOXE3_000038" "g.47882181G>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.47416509G>T" "" "VUS" "" "0000507778" "0" "50" "1" "47882024" "47882024" "subst" "0" "02326" "FOXE3_000039" "g.47882024T>G" "" "" "" "FOXE3(NM_012186.3):c.37T>G (p.F13V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47416352T>G" "" "VUS" "" "0000507779" "0" "30" "1" "47882114" "47882114" "subst" "0" "01943" "FOXE3_000040" "g.47882114G>A" "" "" "" "FOXE3(NM_012186.2):c.127G>A (p.E43K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47416442G>A" "" "likely benign" "" "0000507782" "0" "30" "1" "47882321" "47882321" "subst" "3.67431E-5" "01943" "FOXE3_000043" "g.47882321C>T" "" "" "" "FOXE3(NM_012186.2):c.334C>T (p.P112S), FOXE3(NM_012186.3):c.334C>T (p.P112S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47416649C>T" "" "likely benign" "" "0000507783" "0" "10" "1" "47882497" "47882497" "subst" "0.34783" "02329" "FOXE3_000012" "g.47882497C>T" "" "" "" "FOXE3(NM_012186.3):c.510C>T (p.A170=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47416825C>T" "" "benign" "" "0000507784" "0" "50" "1" "47882512" "47882512" "subst" "0" "02327" "FOXE3_000044" "g.47882512C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47416840C>G" "" "VUS" "" "0000507785" "0" "50" "1" "47882529" "47882529" "subst" "4.80307E-5" "02326" "FOXE3_000045" "g.47882529G>A" "" "" "" "FOXE3(NM_012186.2):c.542G>A (p.G181E), FOXE3(NM_012186.3):c.542G>A (p.G181E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47416857G>A" "" "VUS" "" "0000507787" "0" "50" "1" "47882558" "47882566" "dup" "0" "01943" "FOXE3_000014" "g.47882558_47882566dup" "" "" "" "FOXE3(NM_012186.2):c.571_579dupTACGCGCCC (p.Y191_P193dup), FOXE3(NM_012186.3):c.571_579dupTACGCGCCC (p.Y191_P193dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47416886_47416894dup" "" "VUS" "" "0000507788" "0" "50" "1" "47882558" "47882566" "dup" "0" "02326" "FOXE3_000014" "g.47882558_47882566dup" "" "" "" "FOXE3(NM_012186.2):c.571_579dupTACGCGCCC (p.Y191_P193dup), FOXE3(NM_012186.3):c.571_579dupTACGCGCCC (p.Y191_P193dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47416886_47416894dup" "" "VUS" "" "0000507789" "0" "10" "1" "47882574" "47882574" "subst" "0.00656968" "02330" "FOXE3_000015" "g.47882574G>C" "" "" "" "FOXE3(NM_012186.2):c.587G>C (p.G196A, p.(Gly196Ala)), FOXE3(NM_012186.3):c.587G>C (p.G196A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47416902G>C" "" "benign" "" "0000507790" "0" "30" "1" "47882690" "47882690" "subst" "0" "01943" "FOXE3_000047" "g.47882690C>T" "" "" "" "FOXE3(NM_012186.2):c.703C>T (p.P235S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47417018C>T" "" "likely benign" "" "0000507791" "0" "90" "1" "47882692" "47882692" "del" "0" "01943" "FOXE3_000004" "g.47882692del" "" "" "" "FOXE3(NM_012186.2):c.705delC (p.E236Sfs*71)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47417020del" "" "pathogenic" "" "0000507792" "0" "10" "1" "47882815" "47882815" "subst" "0.000178968" "02330" "FOXE3_000018" "g.47882815C>G" "" "" "" "FOXE3(NM_012186.2):c.828C>G (p.P276=), FOXE3(NM_012186.3):c.828C>G (p.P276=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47417143C>G" "" "benign" "" "0000507793" "0" "30" "1" "47882815" "47882815" "subst" "0.000178968" "01943" "FOXE3_000018" "g.47882815C>G" "" "" "" "FOXE3(NM_012186.2):c.828C>G (p.P276=), FOXE3(NM_012186.3):c.828C>G (p.P276=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47417143C>G" "" "likely benign" "" "0000507795" "0" "30" "1" "47882916" "47882916" "subst" "0.0036151" "01943" "FOXE3_000031" "g.47882916G>A" "" "" "" "FOXE3(NM_012186.2):c.929G>A (p.G310D), FOXE3(NM_012186.3):c.929G>A (p.(Gly310Asp), p.G310D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47417244G>A" "" "likely benign" "" "0000507796" "0" "10" "1" "47882916" "47882916" "subst" "0.0036151" "02326" "FOXE3_000031" "g.47882916G>A" "" "" "" "FOXE3(NM_012186.2):c.929G>A (p.G310D), FOXE3(NM_012186.3):c.929G>A (p.(Gly310Asp), p.G310D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47417244G>A" "" "benign" "" "0000592090" "3" "90" "1" "47882294" "47882294" "subst" "0" "00006" "FOXE3_000048" "g.47882294G>A" "" "{PMID:Chen 2017:28418495}" "" "" "" "Germline" "yes" "" "0" "" "" "g.47416622G>A" "" "pathogenic (recessive)" "" "0000605817" "0" "30" "1" "47882529" "47882529" "subst" "4.80307E-5" "01943" "FOXE3_000045" "g.47882529G>A" "" "" "" "FOXE3(NM_012186.2):c.542G>A (p.G181E), FOXE3(NM_012186.3):c.542G>A (p.G181E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47416857G>A" "" "likely benign" "" "0000605818" "0" "30" "1" "47882600" "47882600" "subst" "0" "02327" "FOXE3_000049" "g.47882600T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47416928T>G" "" "likely benign" "" "0000605819" "0" "30" "1" "47882690" "47882690" "subst" "0" "02327" "FOXE3_000047" "g.47882690C>T" "" "" "" "FOXE3(NM_012186.2):c.703C>T (p.P235S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47417018C>T" "" "likely benign" "" "0000620657" "0" "30" "1" "47882321" "47882321" "subst" "3.67431E-5" "02326" "FOXE3_000043" "g.47882321C>T" "" "" "" "FOXE3(NM_012186.2):c.334C>T (p.P112S), FOXE3(NM_012186.3):c.334C>T (p.P112S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47416649C>T" "" "likely benign" "" "0000654060" "0" "50" "1" "47882417" "47882417" "subst" "8.2021E-6" "01943" "FOXE3_000050" "g.47882417T>C" "" "" "" "FOXE3(NM_012186.2):c.430T>C (p.Y144H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47416745T>C" "" "VUS" "" "0000654061" "0" "30" "1" "47882764" "47882764" "subst" "0" "02326" "FOXE3_000051" "g.47882764G>A" "" "" "" "FOXE3(NM_012186.3):c.777G>A (p.P259=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47417092G>A" "" "likely benign" "" "0000675879" "0" "10" "1" "47882003" "47882003" "subst" "0.000690825" "02326" "FOXE3_000021" "g.47882003G>A" "" "" "" "FOXE3(NM_012186.3):c.16G>A (p.D6N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000675880" "0" "30" "1" "47882150" "47882150" "subst" "0" "01943" "FOXE3_000052" "g.47882150C>A" "" "" "" "FOXE3(NM_012186.2):c.163C>A (p.P55T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000675881" "0" "30" "1" "47882514" "47882514" "subst" "0.00060619" "01943" "FOXE3_000027" "g.47882514C>T" "" "" "" "FOXE3(NM_012186.2):c.527C>T (p.A176V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000675882" "0" "30" "1" "47882606" "47882606" "subst" "0" "01943" "FOXE3_000053" "g.47882606G>A" "" "" "" "FOXE3(NM_012186.2):c.619G>A (p.G207R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000688198" "0" "50" "1" "47882530" "47882530" "subst" "1.63074E-5" "02326" "FOXE3_000054" "g.47882530G>T" "" "" "" "FOXE3(NM_012186.3):c.543G>T (p.G181=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000717543" "0" "30" "1" "47882122" "47882122" "subst" "0" "01943" "FOXE3_000022" "g.47882122G>A" "" "" "" "FOXE3(NM_012186.2):c.135G>A (p.A45=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717544" "0" "30" "1" "47882148" "47882148" "subst" "0" "01943" "FOXE3_000055" "g.47882148C>T" "" "" "" "FOXE3(NM_012186.2):c.161C>T (p.T54M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717545" "0" "30" "1" "47882161" "47882161" "subst" "0" "01943" "FOXE3_000056" "g.47882161C>T" "" "" "" "FOXE3(NM_012186.2):c.174C>T (p.G58=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717546" "0" "30" "1" "47882491" "47882491" "subst" "1.0334E-5" "01943" "FOXE3_000057" "g.47882491G>A" "" "" "" "FOXE3(NM_012186.2):c.504G>A (p.K168=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000797393" "11" "70" "1" "47882945" "47882945" "subst" "0" "00000" "FOXE3_000020" "g.47882945T>C" "" "{PMID:Patel 2019:30653986}" "" "c.958T-->C; p.*320Argext*72" "confirmed with Sanger sequencing; heterozygous" "Germline" "yes" "" "0" "" "" "g.47417273T>C" "" "likely pathogenic" "" "0000799408" "0" "10" "1" "47882574" "47882574" "subst" "0.00656968" "02329" "FOXE3_000015" "g.47882574G>C" "" "" "" "FOXE3(NM_012186.2):c.587G>C (p.G196A, p.(Gly196Ala)), FOXE3(NM_012186.3):c.587G>C (p.G196A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000799409" "0" "30" "1" "47882611" "47882611" "subst" "0" "02330" "FOXE3_000058" "g.47882611G>C" "" "" "" "FOXE3(NM_012186.3):c.624G>C (p.P208=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000812664" "0" "70" "1" "47882231" "47882231" "subst" "9.51096E-5" "00000" "FOXE3_000010" "g.47882231A>G" "" "{PMID:Wang 2019:31106028}" "" "c.244A>G, p.(Met82Val)" "heterozygous" "Germline" "?" "" "0" "" "" "g.47416559A>G" "" "likely pathogenic" "" "0000814375" "0" "50" "1" "47882418" "47882418" "subst" "4.92146E-5" "00000" "FOXE3_000061" "g.47882418A>G" "" "{PMID:Lenassi 2020:31848469}" "" "FOXE3 c.431A>G, p.(Tyr144Cys) het" "heterozygous" "Germline" "?" "" "0" "" "" "g.47416746A>G" "" "VUS" "ACMG" "0000814405" "3" "50" "1" "47882339" "47882339" "subst" "0" "00000" "FOXE3_000060" "g.47882339A>G" "" "{PMID:Lenassi 2020:31848469}" "" "FOXE3 c.352A>G p.(Ser118Gly) hom" "homozygous" "Germline" "?" "" "0" "" "" "g.47416667A>G" "" "VUS" "ACMG" "0000814434" "0" "50" "1" "47882312" "47882312" "subst" "0" "00000" "FOXE3_000059" "g.47882312C>A" "" "{PMID:Lenassi 2020:31848469}" "" "FOXE3 c.325C>A p.(Arg109Ser) het FOXE3 c.555dupC p.(Phe186LeufsTer99) het" "heterozygous" "Germline" "?" "" "0" "" "" "g.47416640C>A" "" "VUS" "ACMG" "0000814483" "0" "50" "1" "47882542" "47882542" "dup" "0" "00000" "FOXE3_000062" "g.47882542dup" "" "{PMID:Lenassi 2020:31848469}" "" "FOXE3 c.325C>A p.(Arg109Ser) het FOXE3 c.555dupC p.(Phe186LeufsTer99) het" "heterozygous" "Germline" "?" "" "0" "" "" "g.47416870dup" "" "VUS" "ACMG" "0000848761" "0" "10" "1" "47882003" "47882003" "subst" "0.000690825" "02330" "FOXE3_000021" "g.47882003G>A" "" "" "" "FOXE3(NM_012186.3):c.16G>A (p.D6N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000857530" "0" "50" "1" "47881992" "47881992" "subst" "0" "01943" "FOXE3_000063" "g.47881992C>T" "" "" "" "FOXE3(NM_012186.2):c.5C>T (p.A2V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000857531" "0" "10" "1" "47882605" "47882605" "subst" "0.00758828" "02329" "FOXE3_000016" "g.47882605C>G" "" "" "" "FOXE3(NM_012186.3):c.618C>G (p.A206=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000869873" "3" "90" "1" "47882231" "47882231" "subst" "9.51096E-5" "01164" "FOXE3_000010" "g.47882231A>G" "" "PMID: 19708017, 29136273, 29314435" "" "" "ACMG: PS4, PM3, PP1_MOD, PM2_SUP, PP3; sister also affected, co-segregation." "Germline" "yes" "" "" "" "" "" "VCV000667373.16" "pathogenic (recessive)" "ACMG" "0000883486" "0" "10" "1" "47882145" "47882145" "subst" "0" "02330" "FOXE3_000023" "g.47882145C>T" "" "" "" "FOXE3(NM_012186.2):c.158C>T (p.P53L), FOXE3(NM_012186.3):c.158C>T (p.P53L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000883487" "0" "10" "1" "47882221" "47882221" "subst" "0.00140845" "02329" "FOXE3_000033" "g.47882221G>A" "" "" "" "FOXE3(NM_012186.2):c.234G>A (p.A78=), FOXE3(NM_012186.3):c.234G>A (p.A78=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000883488" "0" "50" "1" "47882406" "47882406" "subst" "0" "02325" "FOXE3_000064" "g.47882406G>A" "" "" "" "FOXE3(NM_012186.3):c.419G>A (p.G140D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000883489" "0" "10" "1" "47882588" "47882588" "subst" "0.00429931" "02330" "FOXE3_000028" "g.47882588G>A" "" "" "" "FOXE3(NM_012186.3):c.601G>A (p.V201M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000911087" "0" "30" "1" "47882227" "47882227" "subst" "0.000215948" "02329" "FOXE3_000034" "g.47882227C>T" "" "" "" "FOXE3(NM_012186.2):c.240C>T (p.I80=), FOXE3(NM_012186.3):c.240C>T (p.I80=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000921564" "1" "50" "1" "47882432" "47882432" "subst" "0" "00006" "FOXE3_000026" "g.47882432C>T" "" "{PMID:Li 2016:27307692}" "" "" "" "Germline" "" "" "0" "" "" "g.47416760C>T" "" "VUS" "" "0000921626" "0" "30" "1" "47882497" "47882497" "subst" "0.34783" "00006" "FOXE3_000012" "g.47882497C>T" "" "{PMID:Li 2019:31842807}" "" "" "" "Germline" "" "rs34082359" "0" "" "" "g.47416825C>T" "" "likely benign" "" "0000921627" "3" "30" "1" "47882605" "47882605" "subst" "0.00758828" "00006" "FOXE3_000016" "g.47882605C>G" "" "{PMID:Li 2019:31842807}" "" "" "" "Germline" "" "rs189628587" "0" "" "" "g.47416933C>G" "" "likely benign" "" "0000921820" "0" "90" "1" "47882181" "47882183" "del" "0" "00006" "FOXE3_000065" "g.47882181_47882183del" "" "{PMID:Zhang 2018:30078984}" "" "179_181del" "" "Germline" "" "" "0" "" "" "g.47416509_47416511del" "" "pathogenic (dominant)" "" "0000923201" "0" "50" "1" "47882287" "47882287" "subst" "0" "02329" "FOXE3_000066" "g.47882287C>A" "" "" "" "FOXE3(NM_012186.3):c.300C>A (p.F100L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000923202" "0" "10" "1" "47882410" "47882410" "subst" "0.00226441" "02329" "FOXE3_000025" "g.47882410G>A" "" "" "" "FOXE3(NM_012186.2):c.423G>A (p.K141=), FOXE3(NM_012186.3):c.423G>A (p.K141=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000923203" "0" "10" "1" "47882885" "47882885" "subst" "0.00496888" "02326" "FOXE3_000019" "g.47882885A>G" "" "" "" "FOXE3(NM_012186.3):c.898A>G (p.S300G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000923204" "0" "10" "1" "47882885" "47882885" "subst" "0.00496888" "02329" "FOXE3_000019" "g.47882885A>G" "" "" "" "FOXE3(NM_012186.3):c.898A>G (p.S300G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000928181" "0" "30" "1" "47882227" "47882227" "subst" "0.000215948" "02330" "FOXE3_000034" "g.47882227C>T" "" "" "" "FOXE3(NM_012186.2):c.240C>T (p.I80=), FOXE3(NM_012186.3):c.240C>T (p.I80=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000928182" "0" "30" "1" "47882425" "47882425" "subst" "5.06718E-5" "02326" "FOXE3_000067" "g.47882425G>A" "" "" "" "FOXE3(NM_012186.3):c.438G>A (p.T146=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000939316" "3" "90" "1" "47882707" "47882707" "subst" "0.000163163" "04543" "FOXE3_000006" "g.47882707C>A" "" "{PMID:Basharat 2023:37628625}, {DOI:Basharat 2023:10.3390/genes14081573}" "" "" "" "Germline" "yes" "" "0" "" "" "g.47417035C>A" "" "pathogenic (recessive)" "" "0000939317" "3" "90" "1" "47882707" "47882707" "subst" "0.000163163" "04543" "FOXE3_000006" "g.47882707C>A" "" "{PMID:Basharat 2023:37628625}, {DOI:Basharat 2023:10.3390/genes14081573}" "" "" "" "Germline" "yes" "" "0" "" "" "g.47417035C>A" "" "pathogenic (recessive)" "" "0000939321" "3" "90" "1" "47882276" "47882276" "subst" "2.0558E-5" "04543" "FOXE3_000011" "g.47882276A>G" "" "{PMID:Basharat 2023:37628625}, {DOI:Basharat 2023:10.3390/genes14081573}" "" "" "" "Germline" "yes" "" "0" "" "" "g.47416604A>G" "" "pathogenic (recessive)" "" "0000939322" "3" "90" "1" "47882707" "47882707" "subst" "0.000163163" "04543" "FOXE3_000006" "g.47882707C>A" "" "{PMID:Basharat 2023:37628625}, {DOI:Basharat 2023:10.3390/genes14081573}" "" "" "father not available for analysis" "Germline" "yes" "" "0" "" "" "g.47417035C>A" "" "pathogenic (recessive)" "" "0000947267" "0" "30" "1" "47882038" "47882038" "subst" "0" "02330" "FOXE3_000068" "g.47882038T>C" "" "" "" "FOXE3(NM_012186.3):c.51T>C (p.P17=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000947268" "0" "10" "1" "47882410" "47882410" "subst" "0.00226441" "02326" "FOXE3_000025" "g.47882410G>A" "" "" "" "FOXE3(NM_012186.2):c.423G>A (p.K141=), FOXE3(NM_012186.3):c.423G>A (p.K141=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000947269" "0" "30" "1" "47882818" "47882818" "subst" "0.000250179" "02329" "FOXE3_000030" "g.47882818C>T" "" "" "" "FOXE3(NM_012186.3):c.831C>T (p.G277=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000954916" "1" "10" "1" "47882574" "47882574" "subst" "0.00656968" "00006" "FOXE3_000015" "g.47882574G>C" "" "{PMID:Reis 2013:23508780}" "" "" "" "Germline" "no" "" "0" "" "" "g.47416902G>C" "" "benign" "" "0000961085" "0" "30" "1" "47882800" "47882800" "subst" "0" "02329" "FOXE3_000069" "g.47882800G>A" "" "" "" "FOXE3(NM_012186.3):c.813G>A (p.L271=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000974020" "0" "50" "1" "47882312" "47882312" "subst" "0" "01804" "FOXE3_000070" "g.47882312C>T" "" "" "" "FOXE3(NM_012186.3):c.325C>T (p.(Arg109Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000974021" "0" "50" "1" "47882558" "47882566" "del" "0" "01804" "FOXE3_000071" "g.47882558_47882566del" "" "" "" "FOXE3(NM_012186.3):c.571_579del (p.(Tyr191_Pro193del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000991326" "0" "50" "1" "47882078" "47882078" "subst" "0" "01804" "FOXE3_000072" "g.47882078C>T" "" "" "" "FOXE3(NM_012186.2):c.91C>T (p.(Pro31Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000991327" "0" "50" "1" "47882219" "47882219" "subst" "3.69375E-5" "01804" "FOXE3_000073" "g.47882219G>A" "" "" "" "FOXE3(NM_012186.2):c.232G>A (p.(Ala78Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001007458" "0" "70" "1" "47882146" "47882186" "del" "0" "00006" "FOXE3_000075" "g.47882146_47882186del" "" "{PMID:Mansoorshahi 2024:39226896}" "" "" "" "Germline" "" "rs1216242726" "0" "" "" "g.47416474_47416514del" "" "VUS" "" "0001024184" "0" "50" "1" "47882403" "47882403" "subst" "2.45734E-5" "02325" "FOXE3_000076" "g.47882403C>T" "" "" "" "FOXE3(NM_012186.3):c.416C>T (p.P139L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001032114" "0" "50" "1" "47882397" "47882397" "subst" "2.45761E-5" "01804" "FOXE3_000077" "g.47882397G>A" "" "" "" "FOXE3(NM_012186.3):c.410G>A (p.(Gly137Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001032115" "0" "10" "1" "47882916" "47882916" "subst" "0.0036151" "01804" "FOXE3_000031" "g.47882916G>A" "" "" "" "FOXE3(NM_012186.2):c.929G>A (p.G310D), FOXE3(NM_012186.3):c.929G>A (p.(Gly310Asp), p.G310D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001058294" "0" "90" "1" "47882946" "47882946" "subst" "0" "00006" "FOXE3_000008" "g.47882946G>C" "" "{PMID:Bremond-Gignac 2010:20806047}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.47417274G>C" "" "pathogenic" "" "0001058295" "0" "70" "1" "47882558" "47882566" "dup" "0" "00006" "FOXE3_000014" "g.47882558_47882566dup" "" "{PMID:Bremond-Gignac 2010:20806047}" "" "571–579dup" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.47416886_47416894dup" "" "VUS" "" "0001058299" "1" "90" "1" "47882946" "47882946" "subst" "0" "00006" "FOXE3_000078" "g.47882946G>T" "" "{PMID:Doucette 2011:21150893}" "" "959G>T (X320L)" "" "Germline" "yes" "" "0" "" "" "g.47417274G>T" "" "pathogenic (dominant)" "" "0001058300" "3" "90" "1" "47882279" "47882279" "subst" "0" "00006" "FOXE3_000005" "g.47882279T>C" "10/405 heterozygous carriers local controls" "{PMID:Pantoja-Melendez 2013:24019743}" "" "" "" "Germline" "yes" "" "0" "" "" "g.47416607T>C" "" "pathogenic (recessive)" "" "0001058328" "3" "90" "1" "47882666" "47882673" "dup" "0" "00006" "FOXE3_000080" "g.47882666_47882673dup" "" "{PMID:Chassaing 2014:24033328}" "" "685_686insTCCGGAGC" "" "Germline" "" "" "0" "" "" "g.47416994_47417001dup" "" "pathogenic (recessive)" "" "0001058329" "3" "90" "1" "47882707" "47882707" "subst" "0.000163163" "00006" "FOXE3_000006" "g.47882707C>A" "" "{PMID:Chassaing 2014:24033328}" "" "" "" "Germline" "" "" "0" "" "" "g.47417035C>A" "" "pathogenic (recessive)" "" "0001058342" "3" "90" "1" "47882345" "47882345" "subst" "0" "00006" "FOXE3_000002" "g.47882345C>G" "" "{PMID:Islam 2015:25504734}" "" "" "" "Germline" "" "" "0" "" "" "g.47416673C>G" "" "pathogenic (recessive)" "" "0001058343" "3" "90" "1" "47882008" "47882011" "del" "0" "00006" "FOXE3_000001" "g.47882008_47882011del" "" "{PMID:Islam 2015:25504734}" "" "" "" "Germline" "" "" "0" "" "" "g.47416336_47416339del" "" "pathogenic (recessive)" "" "0001058344" "11" "90" "1" "47882692" "47882692" "del" "0" "00006" "FOXE3_000004" "g.47882692del" "" "{PMID:Islam 2015:25504734}" "" "" "" "Germline" "" "" "0" "" "" "g.47417020del" "" "pathogenic (recessive)" "" "0001058345" "21" "90" "1" "47882256" "47882256" "subst" "8.76775E-5" "00006" "FOXE3_000003" "g.47882256G>T" "" "{PMID:Islam 2015:25504734}" "" "" "" "Germline" "" "" "0" "" "" "g.47416584G>T" "" "pathogenic (recessive)" "" "0001058692" "0" "90" "1" "47882231" "47882231" "subst" "9.51096E-5" "00006" "FOXE3_000010" "g.47882231A>G" "" "{PMID:Retterer 2016:26633542}" "" "" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.47416559A>G" "" "pathogenic" "" "0001058693" "0" "70" "1" "47882374" "47882374" "subst" "0" "00006" "FOXE3_000079" "g.47882374C>G" "" "{PMID:Retterer 2016:26633542}" "" "" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.47416702C>G" "" "likely pathogenic" "" "0001059504" "3" "90" "1" "47882707" "47882707" "subst" "0.000163163" "00006" "FOXE3_000006" "g.47882707C>A" "" "{PMID:Khan 2016:27218149}" "" "" "not in 384 ethnically matched control chromosomes" "Germline" "" "" "0" "" "" "g.47417035C>A" "" "pathogenic (recessive)" "" "0001059505" "3" "90" "1" "47882338" "47882338" "subst" "0" "00006" "FOXE3_000081" "g.47882338C>G" "" "{PMID:Khan 2016:27218149}" "" "" "" "Germline" "yes" "" "0" "" "" "g.47416666C>G" "" "pathogenic (recessive)" "" "0001059506" "3" "90" "1" "47882294" "47882294" "subst" "0" "00006" "FOXE3_000048" "g.47882294G>A" "" "{PMID:Khan 2016:27218149}" "" "" "" "Germline" "yes" "" "0" "" "" "g.47416622G>A" "" "pathogenic (recessive)" "" "0001059507" "3" "90" "1" "47882459" "47882459" "subst" "0" "00006" "FOXE3_000082" "g.47882459G>C" "" "{PMID:Saboo 2017:27669367}" "" "" "" "Germline" "yes" "" "0" "" "" "g.47416787G>C" "" "pathogenic (recessive)" "" "0001059508" "3" "90" "1" "47882008" "47882011" "del" "0" "00006" "FOXE3_000001" "g.47882008_47882011del" "" "{PMID:Ullah 2016:26995144}" "" "21_24delGGAT" "" "Germline" "yes" "" "0" "" "" "g.47416336_47416339del" "" "pathogenic (recessive)" "" "0001059509" "11" "90" "1" "47882231" "47882231" "subst" "9.51096E-5" "00006" "FOXE3_000010" "g.47882231A>G" "" "{PMID:Plaisancie 2018:29136273}" "" "" "" "Germline" "" "" "0" "" "" "g.47416559A>G" "" "pathogenic (recessive)" "" "0001059510" "11" "90" "1" "47882297" "47882297" "subst" "4.08871E-6" "00006" "FOXE3_000084" "g.47882297C>T" "" "{PMID:Plaisancie 2018:29136273}" "" "" "" "Germline" "" "" "0" "" "" "g.47416625C>T" "" "pathogenic (recessive)" "" "0001059511" "11" "90" "1" "47882332" "47882332" "subst" "0" "00006" "FOXE3_000085" "g.47882332G>A" "" "{PMID:Plaisancie 2018:29136273}" "" "" "" "Germline" "" "" "0" "" "" "g.47416660G>A" "" "pathogenic (recessive)" "" "0001059512" "3" "90" "1" "47882231" "47882231" "subst" "9.51096E-5" "00006" "FOXE3_000010" "g.47882231A>G" "" "{PMID:Plaisancie 2018:29136273}" "" "" "" "Germline" "yes" "" "0" "" "" "g.47416559A>G" "" "pathogenic (recessive)" "" "0001059513" "3" "90" "1" "47882219" "47882219" "subst" "3.69375E-5" "00006" "FOXE3_000073" "g.47882219G>A" "" "{PMID:Plaisancie 2018:29136273}" "" "" "" "Germline" "yes" "" "0" "" "" "g.47416547G>A" "" "pathogenic (recessive)" "" "0001059514" "21" "90" "1" "47882256" "47882256" "subst" "8.76775E-5" "00006" "FOXE3_000003" "g.47882256G>T" "" "{PMID:Plaisancie 2018:29136273}" "" "" "" "Germline" "" "" "0" "" "" "g.47416584G>T" "" "pathogenic (recessive)" "" "0001059515" "21" "90" "1" "47882219" "47882219" "subst" "3.69375E-5" "00006" "FOXE3_000073" "g.47882219G>A" "" "{PMID:Plaisancie 2018:29136273}" "" "" "" "Germline" "" "" "0" "" "" "g.47416547G>A" "" "pathogenic (recessive)" "" "0001059516" "21" "90" "1" "47882459" "47882459" "subst" "0" "00006" "FOXE3_000082" "g.47882459G>C" "" "{PMID:Plaisancie 2018:29136273}" "" "" "" "Germline" "" "" "0" "" "" "g.47416787G>C" "" "pathogenic (recessive)" "" "0001059518" "3" "90" "1" "47882279" "47882279" "subst" "0" "00006" "FOXE3_000005" "g.47882279T>C" "" "{PMID:Garcia-Montalvo 2014:24689660}" "" "" "" "Germline" "" "" "0" "" "" "g.47416607T>C" "" "pathogenic (recessive)" "" "0001059519" "1" "70" "1" "47882588" "47882588" "subst" "0.00429931" "00006" "FOXE3_000028" "g.47882588G>A" "5/104 MAC cases; 3/210 controls" "{PMID:Garcia-Montalvo 2014:24689660}" "" "" "association with congenital eye defects odds ratio 3.5 (CI 0.8-14.9 P=0.15);" "Germline" "" "" "0" "" "" "g.47416916G>A" "" "association" "" "0001059522" "3" "90" "1" "47882278" "47882278" "subst" "2.46579E-5" "00006" "FOXE3_000083" "g.47882278C>G" "" "{PMID:Quiroz-Casian 2018:29878917}" "" "" "" "Germline" "" "" "0" "" "" "g.47416606C>G" "" "pathogenic (recessive)" "" "0001059523" "21" "70" "1" "47882231" "47882231" "subst" "9.51096E-5" "00006" "FOXE3_000010" "g.47882231A>G" "" "{PMID:Quiroz-Casian 2018:29878917}" "" "" "" "Germline" "" "" "0" "" "" "g.47416559A>G" "" "likely pathogenic (recessive)" "" "0001059524" "11" "70" "1" "47882374" "47882374" "subst" "0" "00006" "FOXE3_000079" "g.47882374C>G" "" "{PMID:Quiroz-Casian 2018:29878917}" "" "" "" "Germline" "" "" "0" "" "" "g.47416702C>G" "" "likely pathogenic (recessive)" "" "0001059824" "3" "50" "1" "47882278" "47882278" "subst" "2.46579E-5" "00006" "FOXE3_000083" "g.47882278C>G" "" "{PMID:Thanikachalam 2020:32224865}" "" "" "ACMG PM2, PP3" "Germline" "" "" "0" "" "" "g.47416606C>G" "" "VUS" "ACMG" "0001059830" "1" "70" "1" "47882418" "47882418" "subst" "4.92146E-5" "00006" "FOXE3_000061" "g.47882418A>G" "" "{PMID:Taha Najim 2020:32436650}" "" "" "" "Germline" "" "" "0" "" "" "g.47416746A>G" "" "likely pathogenic (recessive)" "" "0001059834" "2" "70" "1" "47882232" "47882232" "subst" "0" "00006" "FOXE3_000090" "g.47882232T>C" "" "{PMID:Taha Najim 2020:32436650}" "" "" "" "Germline" "" "" "0" "" "" "g.47416560T>C" "" "likely pathogenic (recessive)" "" "0001059869" "3" "90" "1" "47882276" "47882276" "subst" "2.0558E-5" "00006" "FOXE3_000011" "g.47882276A>G" "" "{PMID:Rashid 2020:32976546}" "" "" "ACMG PM1, PM2, PM5, PP2, PP3" "Germline" "yes" "" "0" "" "" "g.47416604A>G" "" "likely pathogenic (recessive)" "ACMG" "0001059876" "3" "90" "1" "47882093" "47882093" "subst" "0" "00006" "FOXE3_000087" "g.47882093G>T" "" "{PMID:Akbar 2024:37758467}" "" "" "" "Germline" "yes" "" "0" "" "" "g.47416421G>T" "" "pathogenic (recessive)" "" "0001059877" "3" "90" "1" "47882093" "47882093" "subst" "0" "00006" "FOXE3_000087" "g.47882093G>T" "" "{PMID:Akbar 2024:37758467}" "" "" "" "Germline" "yes" "" "0" "" "" "g.47416421G>T" "" "pathogenic (recessive)" "" "0001059878" "3" "90" "1" "47882093" "47882093" "subst" "0" "00006" "FOXE3_000087" "g.47882093G>T" "" "{PMID:Akbar 2024:37758467}" "" "" "" "Germline" "yes" "" "0" "" "" "g.47416421G>T" "" "pathogenic (recessive)" "" "0001059879" "3" "90" "1" "47882093" "47882093" "subst" "0" "00006" "FOXE3_000087" "g.47882093G>T" "" "{PMID:Akbar 2024:37758467}" "" "" "" "Germline" "yes" "" "0" "" "" "g.47416421G>T" "" "pathogenic (recessive)" "" "0001059880" "3" "90" "1" "47882093" "47882093" "subst" "0" "00006" "FOXE3_000087" "g.47882093G>T" "" "{PMID:Akbar 2024:37758467}" "" "" "" "Germline" "yes" "" "0" "" "" "g.47416421G>T" "" "pathogenic (recessive)" "" "0001059881" "3" "90" "1" "47882093" "47882093" "subst" "0" "00006" "FOXE3_000087" "g.47882093G>T" "" "{PMID:Akbar 2024:37758467}" "" "" "" "Germline" "yes" "" "0" "" "" "g.47416421G>T" "" "pathogenic (recessive)" "" "0001059923" "11" "50" "1" "47882231" "47882231" "subst" "9.51096E-5" "00006" "FOXE3_000010" "g.47882231A>G" "" "{PMID:Lecca 2024:38840272}" "" "" "ACMG PM1_P, PM2_P, PP5_P, PP3_M; no variant 2nd chromosome; unaffected carrier father" "Germline" "" "" "0" "" "" "g.47416559A>G" "667373" "VUS" "ACMG" "0001060052" "3" "90" "1" "47882008" "47882011" "del" "0" "00006" "FOXE3_000001" "g.47882008_47882011del" "" "{PMID:Reis 2021:34046667}" "" "" "ACMG VS1, PS1, PM2, PM3" "Germline" "" "" "0" "" "" "g.47416336_47416339del" "" "pathogenic (recessive)" "ACMG" "0001060053" "3" "90" "1" "47882008" "47882011" "del" "0" "00006" "FOXE3_000001" "g.47882008_47882011del" "" "{PMID:Reis 2021:34046667}" "" "" "ACMG VS1, PS1, PM2, PM3" "Germline" "" "" "0" "" "" "g.47416336_47416339del" "" "pathogenic (recessive)" "ACMG" "0001060054" "3" "90" "1" "47882008" "47882011" "del" "0" "00006" "FOXE3_000001" "g.47882008_47882011del" "" "{PMID:Reis 2021:34046667}" "" "" "ACMG VS1, PS1, PM2, PM3" "Germline" "" "" "0" "" "" "g.47416336_47416339del" "" "pathogenic (recessive)" "ACMG" "0001060055" "3" "90" "1" "47882008" "47882011" "del" "0" "00006" "FOXE3_000001" "g.47882008_47882011del" "" "{PMID:Reis 2021:34046667}" "" "" "ACMG VS1, PS1, PM2, PM3" "Germline" "" "" "0" "" "" "g.47416336_47416339del" "" "pathogenic (recessive)" "ACMG" "0001060056" "3" "90" "1" "47882135" "47882157" "dup" "0" "00006" "FOXE3_000088" "g.47882135_47882157dup" "" "{PMID:Reis 2021:34046667}" "" "" "ACMG PVS1, PM2, PM3, PP4" "Germline" "" "" "0" "" "" "g.47416463_47416485dup" "" "pathogenic (recessive)" "ACMG" "0001060057" "1" "90" "1" "47882219" "47882219" "subst" "3.69375E-5" "00006" "FOXE3_000073" "g.47882219G>A" "" "{PMID:Reis 2021:34046667}" "" "" "ACMG PS1, PM1, PM2, PP2, PP3, PP4" "Germline" "" "" "0" "" "" "g.47416547G>A" "" "pathogenic (recessive)" "ACMG" "0001060058" "1" "90" "1" "47882219" "47882219" "subst" "3.69375E-5" "00006" "FOXE3_000073" "g.47882219G>A" "" "{PMID:Reis 2021:34046667}" "" "" "ACMG PS1, PM1, PM2, PP2, PP3, PP4" "Germline" "" "" "0" "" "" "g.47416547G>A" "" "pathogenic (recessive)" "ACMG" 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"{PMID:Reis 2021:34046667}" "" "" "ACMG PM1, PM2, PM3, PP1, PP2, PP3" "Germline" "" "" "0" "" "" "g.47416686C>T" "" "likely pathogenic (recessive)" "ACMG" "0001060071" "3" "90" "1" "47882707" "47882707" "subst" "0.000163163" "00006" "FOXE3_000006" "g.47882707C>A" "" "{PMID:Reis 2021:34046667}" "" "" "ACMG PVS1, PS1, PM2, PM3, PP4" "Germline" "" "" "0" "" "" "g.47417035C>A" "" "pathogenic (recessive)" "ACMG" "0001060072" "3" "90" "1" "47882707" "47882707" "subst" "0.000163163" "00006" "FOXE3_000006" "g.47882707C>A" "" "{PMID:Reis 2021:34046667}" "" "" "ACMG PVS1, PS1, PM2, PM3, PP4" "Germline" "" "" "0" "" "" "g.47417035C>A" "" "pathogenic (recessive)" "ACMG" "0001060073" "3" "90" "1" "47882707" "47882707" "subst" "0.000163163" "00006" "FOXE3_000006" "g.47882707C>A" "" "{PMID:Reis 2021:34046667}" "" "" "ACMG PVS1, PS1, PM2, PM3, PP4" "Germline" "" "" "0" "" "" "g.47417035C>A" "" "pathogenic (recessive)" "ACMG" "0001060074" "0" "90" "1" "47882946" "47882946" "subst" "0" "00006" 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"{PMID:Reis 2021:34046667}" "" "" "ACMG PS1, PM1, PM2, PM4, PP1" "Germline" "" "" "0" "" "" "g.47417273T>C" "" "pathogenic (recessive)" "ACMG" "0001060083" "2" "70" "1" "47882273" "47882273" "subst" "0" "00006" "FOXE3_000092" "g.47882273G>A" "" "{PMID:Reis 2021:34046667}" "" "" "ACMG PM1, PM2, PM3, PP2, PP3, PP4" "Germline" "" "" "0" "" "" "g.47416601G>A" "" "likely pathogenic (recessive)" "ACMG" "0001060084" "2" "90" "1" "47882231" "47882231" "subst" "9.51096E-5" "00006" "FOXE3_000010" "g.47882231A>G" "" "{PMID:Reis 2021:34046667}" "" "" "ACMG PS1, PM1, PM2, PM3, PP2, PP3" "Germline" "" "" "0" "" "" "g.47416559A>G" "" "pathogenic (recessive)" "ACMG" "0001060085" "2" "90" "1" "47882530" "47882530" "del" "0" "00006" "FOXE3_000094" "g.47882530del" "" "{PMID:Reis 2021:34046667}" "" "" "ACMG MG PVS1, PM2, PM3, PP1, PP4" "Germline" "" "" "0" "" "" "g.47416858del" "" "pathogenic (recessive)" "ACMG" "0001060086" "2" "90" "1" "47882530" "47882530" "del" "0" "00006" "FOXE3_000094" "g.47882530del" "" "{PMID:Reis 2021:34046667}" "" "" "ACMG MG PVS1, PM2, PM3, PP1, PP4" "Germline" "" "" "0" "" "" "g.47416858del" "" "pathogenic (recessive)" "ACMG" "0001060087" "2" "90" "1" "47882831" "47882837" "dup" "0" "00006" "FOXE3_000095" "g.47882831_47882837dup" "" "{PMID:Reis 2021:34046667}" "" "" "ACMG PVS1, PM2, PM3, PP1" "Germline" "" "" "0" "" "" "g.47417159_47417165dup" "" "pathogenic (recessive)" "ACMG" "0001060088" "2" "90" "1" "47882831" "47882837" "dup" "0" "00006" "FOXE3_000095" "g.47882831_47882837dup" "" "{PMID:Reis 2021:34046667}" "" "" "ACMG PVS1, PM2, PM3, PP1" "Germline" "" "" "0" "" "" "g.47417159_47417165dup" "" "pathogenic (recessive)" "ACMG" "0001060092" "3" "90" "1" "47882008" "47882011" "del" "0" "00006" "FOXE3_000001" "g.47882008_47882011del" "" "{PMID:Ernst 2022:35051625}" "" "21_24delGGAT" "" "Germline" "" "" "0" "" "" "g.47416336_47416339del" "" "pathogenic (recessive)" "" "0001060093" "3" "90" "1" "47882345" "47882345" "subst" "0" "00006" "FOXE3_000002" "g.47882345C>G" "" "{PMID:Ernst 2022:35051625}" "" "" "" "Germline" "" "" "0" "" "" "g.47416673C>G" "" "pathogenic (recessive)" "" "0001060094" "3" "90" "1" "47882256" "47882256" "subst" "8.76775E-5" "00006" "FOXE3_000003" "g.47882256G>T" "" "{PMID:Ernst 2022:35051625}" "" "" "" "Germline" "" "" "0" "" "" "g.47416584G>T" "" "pathogenic (recessive)" "" "0001060095" "3" "90" "1" "47882358" "47882358" "subst" "3.26616E-5" "00006" "FOXE3_000086" "g.47882358C>T" "" "{PMID:Ernst 2022:35051625}" "" "" "" "Germline" "" "" "0" "" "" "g.47416686C>T" "" "pathogenic (recessive)" "" "0001060096" "3" "90" "1" "47882135" "47882157" "dup" "0" "00006" "FOXE3_000088" "g.47882135_47882157dup" "" "{PMID:Ernst 2022:35051625}" "" "dup (Gly58 Argfs*174)" "" "Germline" "" "" "0" "" "" "g.47416463_47416485dup" "" "pathogenic (recessive)" "" "0001060097" "3" "90" "1" "47882707" "47882707" "subst" "0.000163163" "00006" "FOXE3_000006" "g.47882707C>A" "" "{PMID:Ernst 2022:35051625}" "" "" "" "Germline" "" "" "0" "" "" "g.47417035C>A" "" "pathogenic (recessive)" "" "0001060098" "3" "90" "1" "47882707" "47882707" "subst" "0.000163163" "00006" "FOXE3_000006" "g.47882707C>A" "" "{PMID:Ernst 2022:35051625}" "" "" "" "Germline" "" "" "0" "" "" "g.47417035C>A" "" "pathogenic (recessive)" "" "0001060099" "3" "90" "1" "47882237" "47882237" "subst" "0" "00006" "FOXE3_000091" "g.47882237C>G" "" "{PMID:Ernst 2022:35051625}" "" "" "" "Germline" "" "" "0" "" "" "g.47416565C>G" "" "pathogenic (recessive)" "" "0001060100" "3" "90" "1" "47882168" "47882168" "del" "0" "00006" "FOXE3_000089" "g.47882168del" "" "{PMID:Ernst 2022:35051625}" "" "" "" "Germline" "" "" "0" "" "" "g.47416496del" "" "pathogenic (recessive)" "" ## 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 FOXE3 ## Count = 221 "{{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}}" "0000047852" "00008083" "90" "21" "0" "24" "0" "c.21_24del" "r.(?)" "p.(Met7Ilefs*216)" "1" "0000047853" "00008083" "90" "358" "0" "358" "0" "c.358C>G" "r.(?)" "p.(Arg120Gly)" "1" "0000047854" "00008083" "90" "269" "0" "269" "0" "c.269G>T" "r.(?)" "p.(Arg90Leu)" "1" "0000047855" "00008083" "90" "705" "0" "705" "0" "c.705del" "r.(?)" "p.(Glu236Serfs*71)" "1" "0000096575" "00008083" "70" "942" "0" "942" "0" "c.942dup" "r.(?)" "p.(Leu315Alafs*117)" "1" "0000096576" "00008083" "30" "587" "0" "587" "0" "c.587G>C" "r.(?)" "p.(Gly196Ala)" "1" "0000096787" "00008083" "30" "898" "0" "898" "0" "c.898A>G" "r.(?)" "p.(Ser300Gly)" "1" "0000096788" "00008083" "10" "510" "0" "510" "0" "c.510C>T" "r.(=)" "p.(Ala170=)" "1" "0000096789" "00008083" "10" "618" "0" "618" "0" "c.618C>G" "r.(=)" "p.(Ala206=)" "1" "0000096790" "00008083" "10" "828" "0" "828" "0" "c.828C>G" "r.(=)" "p.(Pro276=)" "1" "0000096791" "00008083" "70" "269" "0" "269" "0" "c.269G>T" "r.(?)" "p.(Arg90Leu)" "1" "0000096792" "00008083" "70" "720" "0" "720" "0" "c.720C>A" "r.(?)" "p.(Cys240*)" "1" "0000096793" "00008083" "70" "244" "0" "244" "0" "c.244A>G" "r.(?)" "p.(Met82Val)" "1" "0000096794" "00008083" "70" "21" "0" "24" "0" "c.21_24del" "r.(?)" "p.(Met7Ilefs*216)" "1" "0000096795" "00008083" "70" "958" "0" "958" "0" "c.958T>C" "r.(?)" "p.(*320Argext*72)" "1" "0000096796" "00008083" "70" "146" "0" "146" "0" "c.146G>C" "r.(?)" "p.(Gly49Ala)" "1" "0000096797" "00008083" "70" "720" "0" "720" "0" "c.720C>A" "r.(?)" "p.(Cys240*)" "1" "0000096798" "00008083" "70" "292" "0" "292" "0" "c.292T>C" "r.(?)" "p.(Tyr98His)" "1" "0000096799" "00008083" "70" "720" "0" "720" "0" "c.720C>A" "r.(?)" "p.(Cys240*)" "1" "0000096801" "00008083" "90" "959" "0" "959" "0" "c.959G>C" "r.(?)" "p.(*320Serext*72)" "1" "0000096802" "00008083" "70" "571" "0" "579" "0" "c.571_579dup" "r.(?)" "p.(Tyr191_Pro193dup)" "1" "0000096803" "00008083" "70" "244" "0" "244" "0" "c.244A>G" "r.(?)" "p.(Met82Val)" "1" "0000096804" "00008083" "70" "705" "0" "705" "0" "c.705del" "r.(?)" "p.(Glu236Serfs*71)" "1" "0000096805" "00008083" "70" "557" "0" "557" "0" "c.557del" "r.(?)" "p.(Phe186Serfs*38)" "1" "0000096806" "00008083" "70" "720" "0" "720" "0" "c.720C>A" "r.(?)" "p.(Cys240*)" "1" "0000096807" "00008083" "70" "720" "0" "720" "0" "c.720C>A" "r.(?)" "p.(Cys240*)" "1" "0000096808" "00008083" "70" "720" "0" "720" "0" "c.720C>A" "r.(?)" "p.(Cys240*)" "1" "0000096809" "00008083" "50" "289" "0" "289" "0" "c.289A>G" "r.(?)" "p.(Ile97Val)" "1" "0000096810" "00008083" "90" "289" "0" "289" "0" "c.289A>G" "r.(?)" "p.(Ile97Val)" "1" "0000096813" "00008083" "90" "21" "0" "24" "0" "c.21_24del" "r.(?)" "p.(Met7Ilefs*216)" "1" "0000096814" "00008083" "10" "16" "0" "16" "0" "c.16G>A" "r.(?)" "p.(Asp6Asn)" "1" "0000096815" "00008083" "10" "135" "0" "135" "0" "c.135G>A" "r.(?)" "p.(Ala45=)" "1" "0000096816" "00008083" "30" "146" "0" "146" "0" "c.146G>C" "r.(?)" "p.(Gly49Ala)" "1" "0000096817" "00008083" "10" "159" "0" "159" "0" "c.159C>T" "r.(?)" "p.(Pro53=)" "1" "0000096818" "00008083" "10" "276" "0" "276" "0" "c.276C>T" "r.(?)" "p.(Leu92=)" "1" "0000096819" "00008083" "10" "423" "0" "423" "0" "c.423G>A" "r.(?)" "p.(Lys141=)" "1" "0000096820" "00008083" "10" "445" "0" "445" "0" "c.445C>T" "r.(?)" "p.(Pro149Ser)" "1" "0000096821" "00008083" "10" "510" "0" "510" "0" "c.510C>T" "r.(?)" "p.(Ala170=)" "1" "0000096822" "00008083" "10" "527" "0" "527" "0" "c.527C>T" "r.(?)" "p.(Ala176Val)" "1" "0000096823" "00008083" "10" "601" "0" "601" "0" "c.601G>A" "r.(?)" "p.(Val201Met)" "1" "0000096824" "00008083" "10" "618" "0" "618" "0" "c.618C>G" "r.(?)" "p.(Ala206=)" "1" "0000096825" "00008083" "10" "783" "0" "783" "0" "c.783C>G" "r.(?)" "p.(Leu261=)" "1" "0000096826" "00008083" "10" "831" "0" "831" "0" "c.831C>T" "r.(?)" "p.(Gly277=)" "1" "0000096827" "00008083" "10" "898" "0" "898" "0" "c.898A>G" "r.(?)" "p.(Ser300Gly)" "1" "0000096828" "00008083" "10" "929" "0" "929" "0" "c.929G>A" "r.(?)" "p.(Gly310Asp)" "1" "0000245537" "00008083" "30" "898" "0" "898" "0" "c.898A>G" "r.(?)" "p.(Ser300Gly)" "" "0000255905" "00008083" "50" "404" "0" "404" "0" "c.404A>G" "r.(?)" "p.(Glu135Gly)" "" "0000276890" "00008083" "10" "234" "0" "234" "0" "c.234G>A" "r.(?)" "p.(Ala78=)" "" "0000276891" "00008083" "10" "423" "0" "423" "0" "c.423G>A" "r.(?)" "p.(Lys141=)" "" "0000276892" "00008083" "30" "831" "0" "831" "0" "c.831C>T" "r.(?)" "p.(Gly277=)" "" "0000287840" "00008083" "50" "158" "0" "158" "0" "c.158C>T" "r.(?)" "p.(Pro53Leu)" "" "0000287841" "00008083" "30" "225" "0" "225" "0" "c.225G>T" "r.(?)" "p.(Ser75=)" "" "0000287842" "00008083" "10" "234" "0" "234" "0" "c.234G>A" "r.(?)" "p.(Ala78=)" "" "0000287843" "00008083" "30" "240" "0" "240" "0" "c.240C>T" "r.(?)" "p.(Ile80=)" "" "0000287844" "00008083" "30" "423" "0" "423" "0" "c.423G>A" "r.(?)" "p.(Lys141=)" "" "0000287846" "00008083" "30" "587" "0" "587" "0" "c.587G>C" "r.(?)" "p.(Gly196Ala)" "" "0000287847" "00008083" "50" "828" "0" "828" "0" "c.828del" "r.(?)" "p.(Gly277AlafsTer30)" "" "0000320818" "00008083" "30" "587" "0" "587" "0" "c.587G>C" "r.(?)" "p.(Gly196Ala)" "" "0000369314" "00008083" "50" "194" "0" "194" "0" "c.194G>T" "r.(?)" "p.(Arg65Leu)" "" "0000507778" "00008083" "50" "37" "0" "37" "0" "c.37T>G" "r.(?)" "p.(Phe13Val)" "" "0000507779" "00008083" "30" "127" "0" "127" "0" "c.127G>A" "r.(?)" "p.(Glu43Lys)" "" "0000507782" "00008083" "30" "334" "0" "334" "0" "c.334C>T" "r.(?)" "p.(Pro112Ser)" "" "0000507783" "00008083" "10" "510" "0" "510" "0" "c.510C>T" "r.(?)" "p.(Ala170=)" "" "0000507784" "00008083" "50" "525" "0" "525" "0" "c.525C>G" "r.(?)" "p.(His175Gln)" "" "0000507785" "00008083" "50" "542" "0" "542" "0" "c.542G>A" "r.(?)" "p.(Gly181Glu)" "" "0000507787" "00008083" "50" "571" "0" "579" "0" "c.571_579dup" "r.(?)" "p.(Tyr191_Pro193dup)" "" "0000507788" "00008083" "50" "571" "0" "579" "0" "c.571_579dup" "r.(?)" "p.(Tyr191_Pro193dup)" "" "0000507789" "00008083" "10" "587" "0" "587" "0" "c.587G>C" "r.(?)" "p.(Gly196Ala)" "" "0000507790" "00008083" "30" "703" "0" "703" "0" "c.703C>T" "r.(?)" "p.(Pro235Ser)" "" "0000507791" "00008083" "90" "705" "0" "705" "0" "c.705del" "r.(?)" "p.(Glu236SerfsTer71)" "" "0000507792" "00008083" "10" "828" "0" "828" "0" "c.828C>G" "r.(?)" "p.(Pro276=)" "" "0000507793" "00008083" "30" "828" "0" "828" "0" "c.828C>G" "r.(?)" "p.(Pro276=)" "" "0000507795" "00008083" "30" "929" "0" "929" "0" "c.929G>A" "r.(?)" "p.(Gly310Asp)" "" "0000507796" "00008083" "10" "929" "0" "929" "0" "c.929G>A" "r.(?)" "p.(Gly310Asp)" "" "0000592090" "00008083" "90" "307" "0" "307" "0" "c.307G>A" "r.(?)" "p.(Glu103Lys)" "" "0000605817" "00008083" "30" "542" "0" "542" "0" "c.542G>A" "r.(?)" "p.(Gly181Glu)" "" "0000605818" "00008083" "30" "613" "0" "613" "0" "c.613T>G" "r.(?)" "p.(Ser205Ala)" "" "0000605819" "00008083" "30" "703" "0" "703" "0" "c.703C>T" "r.(?)" "p.(Pro235Ser)" "" "0000620657" "00008083" "30" "334" "0" "334" "0" "c.334C>T" "r.(?)" "p.(Pro112Ser)" "" "0000654060" "00008083" "50" "430" "0" "430" "0" "c.430T>C" "r.(?)" "p.(Tyr144His)" "" "0000654061" "00008083" "30" "777" "0" "777" "0" "c.777G>A" "r.(?)" "p.(Pro259=)" "" "0000675879" "00008083" "10" "16" "0" "16" "0" "c.16G>A" "r.(?)" "p.(Asp6Asn)" "" "0000675880" "00008083" "30" "163" "0" "163" "0" "c.163C>A" "r.(?)" "p.(Pro55Thr)" "" "0000675881" "00008083" "30" "527" "0" "527" "0" "c.527C>T" "r.(?)" "p.(Ala176Val)" "" "0000675882" "00008083" "30" "619" "0" "619" "0" "c.619G>A" "r.(?)" "p.(Gly207Arg)" "" "0000688198" "00008083" "50" "543" "0" "543" "0" "c.543G>T" "r.(?)" "p.(Gly181=)" "" "0000717543" "00008083" "30" "135" "0" "135" "0" "c.135G>A" "r.(?)" "p.(Ala45=)" "" "0000717544" "00008083" "30" "161" "0" "161" "0" "c.161C>T" "r.(?)" "p.(Thr54Met)" "" "0000717545" "00008083" "30" "174" "0" "174" "0" "c.174C>T" "r.(?)" "p.(Gly58=)" "" "0000717546" "00008083" "30" "504" "0" "504" "0" "c.504G>A" "r.(?)" "p.(Lys168=)" "" "0000797393" "00008083" "70" "958" "0" "958" "0" "c.958T>C" "r.(?)" "p.(*320Argext*72)" "" "0000799408" "00008083" "10" "587" "0" "587" "0" "c.587G>C" "r.(?)" "p.(Gly196Ala)" "" "0000799409" "00008083" "30" "624" "0" "624" "0" "c.624G>C" "r.(?)" "p.(Pro208=)" "" "0000812664" "00008083" "70" "244" "0" "244" "0" "c.244A>G" "r.(?)" "p.(Met82Val)" "" "0000814375" "00008083" "50" "431" "0" "431" "0" "c.431A>G" "r.(?)" "p.(Tyr144Cys)" "" "0000814405" "00008083" "50" "352" "0" "352" "0" "c.352A>G" "r.(?)" "p.(Ser118Gly)" "" "0000814434" "00008083" "50" "325" "0" "325" "0" "c.325C>A" "r.(?)" "p.(Arg109Ser)" "" "0000814483" "00008083" "50" "555" "0" "555" "0" "c.555dup" "r.(?)" "p.(Phe186LeufsTer99)" "" "0000848761" "00008083" "10" "16" "0" "16" "0" "c.16G>A" "r.(?)" "p.(Asp6Asn)" "" "0000857530" "00008083" "50" "5" "0" "5" "0" "c.5C>T" "r.(?)" "p.(Ala2Val)" "" "0000857531" "00008083" "10" "618" "0" "618" "0" "c.618C>G" "r.(?)" "p.(Ala206=)" "" "0000869873" "00008083" "90" "244" "0" "244" "0" "c.244A>G" "r.(?)" "p.(Met82Val)" "" "0000883486" "00008083" "10" "158" "0" "158" "0" "c.158C>T" "r.(?)" "p.(Pro53Leu)" "" "0000883487" "00008083" "10" "234" "0" "234" "0" "c.234G>A" "r.(?)" "p.(Ala78=)" "" "0000883488" "00008083" "50" "419" "0" "419" "0" "c.419G>A" "r.(?)" "p.(Gly140Asp)" "" "0000883489" "00008083" "10" "601" "0" "601" "0" "c.601G>A" "r.(?)" "p.(Val201Met)" "" "0000911087" "00008083" "30" "240" "0" "240" "0" "c.240C>T" "r.(?)" "p.(Ile80=)" "" "0000921564" "00008083" "50" "445" "0" "445" "0" "c.445C>T" "r.(?)" "p.(Pro149Ser)" "" "0000921626" "00008083" "30" "510" "0" "510" "0" "c.510C>T" "r.(?)" "p.(Ala170=)" "" "0000921627" "00008083" "30" "618" "0" "618" "0" "c.618C>G" "r.(?)" "p.(Ala206=)" "" "0000921820" "00008083" "90" "194" "0" "196" "0" "c.194_196del" "r.(?)" "p.(Arg65del)" "" "0000923201" "00008083" "50" "300" "0" "300" "0" "c.300C>A" "r.(?)" "p.(Phe100Leu)" "" "0000923202" "00008083" "10" "423" "0" "423" "0" "c.423G>A" "r.(?)" "p.(Lys141=)" "" "0000923203" "00008083" "10" "898" "0" "898" "0" "c.898A>G" "r.(?)" "p.(Ser300Gly)" "" "0000923204" "00008083" "10" "898" "0" "898" "0" "c.898A>G" "r.(?)" "p.(Ser300Gly)" "" "0000928181" "00008083" "30" "240" "0" "240" "0" "c.240C>T" "r.(?)" "p.(Ile80=)" "" "0000928182" "00008083" "30" "438" "0" "438" "0" "c.438G>A" "r.(?)" "p.(=)" "" "0000939316" "00008083" "90" "720" "0" "720" "0" "c.720C>A" "r.(?)" "p.(Cys240Ter)" "" "0000939317" "00008083" "90" "720" "0" "720" "0" "c.720C>A" "r.(?)" "p.(Cys240Ter)" "" "0000939321" "00008083" "90" "289" "0" "289" "0" "c.289A>G" "r.(?)" "p.(Ile97Val)" "" "0000939322" "00008083" "90" "720" "0" "720" "0" "c.720C>A" "r.(?)" "p.(Cys240Ter)" "" "0000947267" "00008083" "30" "51" "0" "51" "0" "c.51T>C" "r.(?)" "p.(=)" "" "0000947268" "00008083" "10" "423" "0" "423" "0" "c.423G>A" "r.(?)" "p.(Lys141=)" "" "0000947269" "00008083" "30" "831" "0" "831" "0" "c.831C>T" "r.(?)" "p.(Gly277=)" "" "0000954916" "00008083" "10" "587" "0" "587" "0" "c.587G>C" "r.(?)" "p.(Gly196Ala)" "" "0000961085" "00008083" "30" "813" "0" "813" "0" "c.813G>A" "r.(?)" "p.(=)" "" "0000974020" "00008083" "50" "325" "0" "325" "0" "c.325C>T" "r.(?)" "p.(Arg109Cys)" "" "0000974021" "00008083" "50" "571" "0" "579" "0" "c.571_579del" "r.(?)" "p.(Tyr191_Pro193del)" "" "0000991326" "00008083" "50" "91" "0" "91" "0" "c.91C>T" "r.(?)" "p.(Pro31Ser)" "" "0000991327" "00008083" "50" "232" "0" "232" "0" "c.232G>A" "r.(?)" "p.(Ala78Thr)" "" "0001007458" "00008083" "70" "159" "0" "199" "0" "c.159_199del" "r.(?)" "p.(Thr54AlafsTer217)" "" "0001024184" "00008083" "50" "416" "0" "416" "0" "c.416C>T" "r.(?)" "p.(Pro139Leu)" "" "0001032114" "00008083" "50" "410" "0" "410" "0" "c.410G>A" "r.(?)" "p.(Gly137Asp)" "" "0001032115" "00008083" "10" "929" "0" "929" "0" "c.929G>A" "r.(?)" "p.(Gly310Asp)" "" "0001058294" "00008083" "90" "959" "0" "959" "0" "c.959G>C" "r.(?)" "p.(*320Serext*72)" "" "0001058295" "00008083" "70" "571" "0" "579" "0" "c.571_579dup" "r.(?)" "p.(Tyr191_Pro193dup)" "" "0001058299" "00008083" "90" "959" "0" "959" "0" "c.959G>T" "r.(?)" "p.(Ter320LeuextTer72)" "" "0001058300" "00008083" "90" "292" "0" "292" "0" "c.292T>C" "r.(?)" "p.(Tyr98His)" "" "0001058328" "00008083" "90" "679" "0" "686" "0" "c.679_686dup" "r.(?)" "p.(Ala230ArgfsTer3)" "" "0001058329" "00008083" "90" "720" "0" "720" "0" "c.720C>A" "r.(?)" "p.(Cys240Ter)" "" "0001058342" "00008083" "90" "358" "0" "358" "0" "c.358C>G" "r.(?)" "p.(Arg120Gly)" "" "0001058343" "00008083" "90" "21" "0" "24" "0" "c.21_24del" "r.(21_24del)" "p.(Met7Ilefs*216)" "" "0001058344" "00008083" "90" "705" "0" "705" "0" "c.705del" "r.(?)" "p.(Glu236Serfs*71)" "" "0001058345" "00008083" "90" "269" "0" "269" "0" "c.269G>T" "r.(?)" "p.(Arg90Leu)" "" "0001058692" "00008083" "90" "244" "0" "244" "0" "c.244A>G" "r.(?)" "p.(Met82Val)" "" "0001058693" "00008083" "70" "387" "0" "387" "0" "c.387C>G" "r.(?)" "p.(Phe129Leu)" "" "0001059504" "00008083" "90" "720" "0" "720" "0" "c.720C>A" "r.(?)" "p.(Cys240Ter)" "" "0001059505" "00008083" "90" "351" "0" "351" "0" "c.351C>G" "r.(?)" "p.(Asn117Lys)" "" "0001059506" "00008083" "90" "307" "0" "307" "0" "c.307G>A" "r.(?)" "p.(Glu103Lys)" "" "0001059507" "00008083" "90" "472" "0" "472" "0" "c.472G>C" "r.(?)" "p.(Gly158Arg)" "" "0001059508" "00008083" "90" "21" "0" "24" "0" "c.21_24del" "r.(?)" "p.(Met7Ilefs*216)" "" "0001059509" "00008083" "90" "244" "0" "244" "0" "c.244A>G" "r.(?)" "p.(Met82Val)" "" "0001059510" "00008083" "90" "310" "0" "310" "0" "c.310C>T" "r.(?)" "p.(Arg104Cys)" "" "0001059511" "00008083" "90" "345" "0" "345" "0" "c.345G>A" "r.(?)" "p.(Trp115Ter)" "" "0001059512" "00008083" "90" "244" "0" "244" "0" "c.244A>G" "r.(?)" "p.(Met82Val)" "" "0001059513" "00008083" "90" "232" "0" "232" "0" "c.232G>A" "r.(?)" "p.(Ala78Thr)" "" "0001059514" "00008083" "90" "269" "0" "269" "0" "c.269G>T" "r.(?)" "p.(Arg90Leu)" "" "0001059515" "00008083" "90" "232" "0" "232" "0" "c.232G>A" "r.(?)" "p.(Ala78Thr)" "" "0001059516" "00008083" "90" "472" "0" "472" "0" "c.472G>C" "r.(?)" "p.(Gly158Arg)" "" "0001059518" "00008083" "90" "292" "0" "292" "0" "c.292T>C" "r.(?)" "p.(Tyr98His)" "" "0001059519" "00008083" "70" "601" "0" "601" "0" "c.601G>A" "r.(?)" "p.(Val201Met)" "" "0001059522" "00008083" "90" "291" "0" "291" "0" "c.291C>G" "r.(?)" "p.(Ile97Met)" "" "0001059523" "00008083" "70" "244" "0" "244" "0" "c.244A>G" "r.(?)" "p.(Met82Val)" "" "0001059524" "00008083" "70" "387" "0" "387" "0" "c.387C>G" "r.(?)" "p.(Phe129Leu)" "" "0001059824" "00008083" "50" "291" "0" "291" "0" "c.291C>G" "r.(?)" "p.(Ile97Met)" "" "0001059830" "00008083" "70" "431" "0" "431" "0" "c.431A>G" "r.(?)" "p.(Tyr144Cys)" "" "0001059834" "00008083" "70" "245" "0" "245" "0" "c.245T>C" "r.(?)" "p.(Met82Thr)" "" "0001059869" "00008083" "90" "289" "0" "289" "0" "c.289A>G" "r.(?)" "p.(Ile97Val)" "" "0001059876" "00008083" "90" "106" "0" "106" "0" "c.106G>T" "r.(?)" "p.(Glu36Ter)" "" "0001059877" "00008083" "90" "106" "0" "106" "0" "c.106G>T" "r.(?)" "p.(Glu36Ter)" "" "0001059878" "00008083" "90" "106" "0" "106" "0" "c.106G>T" "r.(?)" "p.(Glu36Ter)" "" "0001059879" "00008083" "90" "106" "0" "106" "0" "c.106G>T" "r.(?)" "p.(Glu36Ter)" "" "0001059880" "00008083" "90" "106" "0" "106" "0" "c.106G>T" "r.(?)" "p.(Glu36Ter)" "" "0001059881" "00008083" "90" "106" "0" "106" "0" "c.106G>T" "r.(?)" "p.(Glu36Ter)" "" "0001059923" "00008083" "50" "244" "0" "244" "0" "c.244A>G" "r.(?)" "p.(Met82Val)" "" "0001060052" "00008083" "90" "21" "0" "24" "0" "c.21_24del" "r.(?)" "p.(Met7IlefsTer216)" "" "0001060053" "00008083" "90" "21" "0" "24" "0" "c.21_24del" "r.(?)" "p.(Met7IlefsTer216)" "" "0001060054" "00008083" "90" "21" "0" "24" "0" "c.21_24del" "r.(?)" "p.(Met7IlefsTer216)" "" "0001060055" "00008083" "90" "21" "0" "24" "0" "c.21_24del" "r.(?)" "p.(Met7IlefsTer216)" "" "0001060056" "00008083" "90" "148" "0" "170" "0" "c.148_170dup" "r.(?)" "p.(Gly58ArgfsTer174)" "" "0001060057" "00008083" "90" "232" "0" "232" "0" "c.232G>A" "r.(?)" "p.(Ala78Thr)" "" "0001060058" "00008083" "90" "232" "0" "232" "0" "c.232G>A" "r.(?)" "p.(Ala78Thr)" "" "0001060059" "00008083" "90" "244" "0" "244" "0" "c.244A>G" "r.(?)" "p.(Met82Val)" "" "0001060060" "00008083" "90" "244" "0" "244" "0" "c.244A>G" "r.(?)" "p.(Met82Val)" "" "0001060061" "00008083" "90" "244" "0" "244" "0" "c.244A>G" "r.(?)" "p.(Met82Val)" "" "0001060062" "00008083" "90" "289" "0" "289" "0" "c.289A>G" "r.(?)" "p.(Ile97Val)" "" "0001060063" "00008083" "90" "291" "0" "291" "0" "c.291C>G" "r.(?)" "p.(Ile97Met)" "" "0001060064" "00008083" "90" "291" "0" "291" "0" "c.291C>G" "r.(?)" "p.(Ile97Met)" "" "0001060065" "00008083" "70" "359" "0" "359" "0" "c.359G>C" "r.(?)" "p.(Arg120Pro)" "" "0001060066" "00008083" "70" "359" "0" "359" "0" "c.359G>C" "r.(?)" "p.(Arg120Pro)" "" "0001060067" "00008083" "70" "359" "0" "359" "0" "c.359G>C" "r.(?)" "p.(Arg120Pro)" "" "0001060068" "00008083" "70" "371" "0" "371" "0" "c.371C>T" "r.(?)" "p.(Thr124Met)" "" "0001060069" "00008083" "70" "371" "0" "371" "0" "c.371C>T" "r.(?)" "p.(Thr124Met)" "" "0001060070" "00008083" "70" "371" "0" "371" "0" "c.371C>T" "r.(?)" "p.(Thr124Met)" "" "0001060071" "00008083" "90" "720" "0" "720" "0" "c.720C>A" "r.(?)" "p.(Cys240Ter)" "" "0001060072" "00008083" "90" "720" "0" "720" "0" "c.720C>A" "r.(?)" "p.(Cys240Ter)" "" "0001060073" "00008083" "90" "720" "0" "720" "0" "c.720C>A" "r.(?)" "p.(Cys240Ter)" "" "0001060074" "00008083" "90" "959" "0" "959" "0" "c.959G>C" "r.(?)" "p.(Ter320SerextTer72)" "" "0001060075" "00008083" "90" "959" "0" "959" "0" "c.959G>C" "r.(?)" "p.(Ter320SerextTer72)" "" "0001060076" "00008083" "90" "959" "0" "959" "0" "c.959G>C" "r.(?)" "p.(Ter320SerextTer72)" "" "0001060077" "00008083" "90" "959" "0" "959" "0" "c.959G>C" "r.(?)" "p.(Ter320SerextTer72)" "" "0001060078" "00008083" "90" "958" "0" "958" "0" "c.958T>C" "r.(?)" "p.(Ter320ArgextTer72)" "" "0001060079" "00008083" "90" "958" "0" "958" "0" "c.958T>C" "r.(?)" "p.(Ter320ArgextTer72)" "" "0001060080" "00008083" "90" "958" "0" "958" "0" "c.958T>C" "r.(?)" "p.(Ter320ArgextTer72)" "" "0001060081" "00008083" "90" "958" "0" "958" "0" "c.958T>C" "r.(?)" "p.(Ter320ArgextTer72)" "" "0001060082" "00008083" "90" "958" "0" "958" "0" "c.958T>C" "r.(?)" "p.(Ter320ArgextTer72)" "" "0001060083" "00008083" "70" "286" "0" "286" "0" "c.286G>A" "r.(?)" "p.(Ala96Thr)" "" "0001060084" "00008083" "90" "244" "0" "244" "0" "c.244A>G" "r.(?)" "p.(Met82Val)" "" "0001060085" "00008083" "90" "543" "0" "543" "0" "c.543del" "r.(?)" "p.(Pro182ArgfsTer42)" "" "0001060086" "00008083" "90" "543" "0" "543" "0" "c.543del" "r.(?)" "p.(Pro182ArgfsTer42)" "" "0001060087" "00008083" "90" "844" "0" "850" "0" "c.844_850dup" "r.(?)" "p.(Glu284AlafsTer3)" "" "0001060088" "00008083" "90" "844" "0" "850" "0" "c.844_850dup" "r.(?)" "p.(Glu284AlafsTer3)" "" "0001060092" "00008083" "90" "21" "0" "24" "0" "c.21_24del" "r,(?)" "p.(Met7IlefsTer216)" "" "0001060093" "00008083" "90" "358" "0" "358" "0" "c.358C>G" "r,(?)" "p.(Arg120Gly)" "" "0001060094" "00008083" "90" "269" "0" "269" "0" "c.269G>T" "r,(?)" "p.(Arg90Leu)" "" "0001060095" "00008083" "90" "371" "0" "371" "0" "c.371C>T" "r,(?)" "p.(Thr124Met)" "" "0001060096" "00008083" "90" "148" "0" "170" "0" "c.148_170dup" "r,(?)" "p.(Gly58ArgfsTer174)" "" "0001060097" "00008083" "90" "720" "0" "720" "0" "c.720C>A" "r,(?)" "p.(Cys240Ter)" "" "0001060098" "00008083" "90" "720" "0" "720" "0" "c.720C>A" "r,(?)" "p.(Cys240Ter)" "" "0001060099" "00008083" "90" "250" "0" "250" "0" "c.250C>G" "r,(?)" "p.(Leu84Val)" "" "0001060100" "00008083" "90" "181" "0" "181" "0" "c.181del" "r,(?)" "p.(Arg61GlyfsTer163)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 151 "{{screeningid}}" "{{variantid}}" "0000025009" "0000047852" "0000025010" "0000047853" "0000025010" "0000047854" "0000025010" "0000047855" "0000064919" "0000096575" "0000064921" "0000096576" "0000065131" "0000096787" "0000065132" "0000096788" "0000065133" "0000096789" "0000065134" "0000096790" "0000065135" "0000096791" "0000065136" "0000096792" "0000065137" "0000096793" "0000065138" "0000096794" "0000065139" "0000096795" "0000065140" "0000096796" "0000065141" "0000096797" "0000065142" "0000096798" "0000065143" "0000096799" "0000065145" "0000096801" "0000065146" "0000096802" "0000065147" "0000096803" "0000065147" "0000096804" "0000065148" "0000096805" "0000065149" "0000096806" "0000065150" "0000096807" "0000065151" "0000096808" "0000065152" "0000096809" "0000065153" "0000096810" "0000065156" "0000096813" "0000065157" "0000096814" "0000065158" "0000096815" "0000065159" "0000096816" "0000065160" "0000096817" "0000065161" "0000096818" "0000065162" "0000096819" "0000065163" "0000096820" "0000065164" "0000096821" "0000065165" "0000096822" "0000065166" "0000096823" "0000065167" "0000096824" "0000065168" "0000096825" "0000065169" "0000096826" "0000065170" "0000096827" "0000065171" "0000096828" "0000165589" "0000369314" "0000261963" "0000592090" "0000383332" "0000797393" "0000385575" "0000812664" "0000386695" "0000814375" "0000386725" "0000814405" "0000386754" "0000814434" "0000386754" "0000814483" "0000412526" "0000869873" "0000435542" "0000921564" "0000435596" "0000921626" "0000435596" "0000921627" "0000435658" "0000921820" "0000441566" "0000939316" "0000441567" "0000939317" "0000441571" "0000939321" "0000441572" "0000939322" "0000446578" "0000954916" "0000455351" "0001007458" "0000470193" "0001058294" "0000470194" "0001058295" "0000470196" "0001058299" "0000470197" "0001058300" "0000470225" "0001058328" "0000470226" "0001058329" "0000470230" "0001058342" "0000470231" "0001058343" "0000470232" "0001058344" "0000470232" "0001058345" "0000470570" "0001058692" "0000470571" "0001058693" "0000471367" "0001059504" "0000471368" "0001059505" "0000471369" "0001059506" "0000471370" "0001059507" "0000471371" "0001059508" "0000471372" "0001059509" "0000471372" "0001059514" "0000471373" "0001059510" "0000471373" "0001059515" "0000471374" "0001059511" "0000471374" "0001059516" "0000471375" "0001059512" "0000471376" "0001059513" "0000471377" "0001059518" "0000471378" "0001059519" "0000471381" "0001059522" "0000471382" "0001059523" "0000471382" "0001059524" "0000471607" "0001059824" "0000471611" "0001059830" "0000471611" "0001059834" "0000471657" "0001059869" "0000471659" "0001059876" "0000471660" "0001059877" "0000471661" "0001059878" "0000471662" "0001059879" "0000471663" "0001059880" "0000471664" "0001059881" "0000471699" "0001059923" "0000471776" "0001060052" "0000471777" "0001060053" "0000471778" "0001060054" "0000471779" "0001060055" "0000471780" "0001060056" "0000471781" "0001060057" "0000471781" "0001060083" "0000471782" "0001060058" "0000471782" "0001060084" "0000471783" "0001060059" "0000471784" "0001060060" "0000471784" "0001060085" "0000471785" "0001060061" "0000471785" "0001060086" "0000471786" "0001060062" "0000471787" "0001060063" "0000471788" "0001060064" "0000471789" "0001060065" "0000471790" "0001060066" "0000471791" "0001060067" "0000471792" "0001060068" "0000471792" "0001060087" "0000471793" "0001060069" "0000471793" "0001060088" "0000471794" "0001060070" "0000471795" "0001060071" "0000471796" "0001060072" "0000471797" "0001060073" "0000471798" "0001060074" "0000471799" "0001060075" "0000471800" "0001060076" "0000471801" "0001060077" "0000471802" "0001060078" "0000471803" "0001060079" "0000471804" "0001060080" "0000471805" "0001060081" "0000471806" "0001060082" "0000471809" "0001060092" "0000471810" "0001060093" "0000471811" "0001060094" "0000471812" "0001060095" "0000471813" "0001060096" "0000471814" "0001060097" "0000471815" "0001060098" "0000471816" "0001060099" "0000471817" "0001060100"