### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PAX6) # 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}}" "PAX6" "paired box 6" "11" "p13" "unknown" "NG_008679.1" "UD_132118823404" "" "https://www.LOVD.nl/PAX6" "MRC Human Genetics Unit LOVD at MRC IGMM " "1" "8620" "5080" "607108" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/PAX6_NM_000280.3_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2007-08-20 00:00:00" "00006" "2018-01-07 17:47:15" "00006" "2025-09-23 14:50:41" ## 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}}" "00023870" "PAX6" "transcript variant 1" "003" "NM_000280.3" "" "NP_000271.1" "" "" "" "-533" "6411" "1269" "31832879" "31806340" "00008" "2013-11-25 16:55:03" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 20 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00296" "CTRCT" "cataract (CTRCT)" "" "" "" "" "" "00006" "2014-01-16 08:42:13" "00006" "2015-03-07 14:30:33" "00356" "MCOP" "microphthalmia (MCOP)" "" "" "" "" "" "00006" "2014-03-14 18:41:31" "00006" "2015-12-07 07:11:25" "00953" "WAGRO" "Wilms tumor, aniridia, genitourinary anomalies, mental retardation, and obesity syndrome (WAGRO)" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2015-12-08 23:59:30" "01178" "AN" "aniridia (AN)" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2019-07-12 09:10:59" "01258" "-" "Coloboma of optic disc" "AD" "120430" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01335" "FVH1" "Foveal hypoplasia 1" "AD" "136520" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01402" "keratitis" "keratitis, hereditary" "AD" "148190" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2023-12-23 15:15:18" "01478" "-" "hypoplasia, optic nerve, bilateral" "AD" "165550" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01610" "WAGR" "Wilms tumor, aniridia, genitourinary anomalies, mental retardation syndrome (WAGR, 11p partial monosomy syndrome)" "" "194072" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2016-07-05 08:24:40" "01657" "GLSP" "Gillespie syndrome" "AD;AR" "206700" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02487" "ASGD5" "dysgenesis, anterior segment, type 5, multiple subtypes" "AD" "604229" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04184" "stature, short" "stature, short" "" "" "" "" "" "00006" "2015-02-09 15:44:22" "00006" "2015-02-09 15:45:17" "04210" "LCA" "Leber congenital amaurosis (LCA)" "" "" "" "" "" "00006" "2015-02-27 18:57:11" "" "" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "05162" "DD" "developmental delay (DD)" "" "" "" "" "" "00006" "2016-05-10 21:15:54" "00006" "2020-05-25 13:52:33" "05165" "CCTRCT" "cataract, congenital (CCTRCT)" "" "" "" "" "" "00006" "2016-05-15 20:37:47" "" "" "05622" "AN1" "aniridia, type 1 (cataract with late-onset corneal dystrophy)" "AD" "106210" "" "autosomal dominant" "" "00006" "2019-07-12 09:07:29" "00006" "2023-12-23 15:14:09" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 11 "{{geneid}}" "{{diseaseid}}" "PAX6" "00139" "PAX6" "00953" "PAX6" "01178" "PAX6" "01258" "PAX6" "01335" "PAX6" "01402" "PAX6" "01478" "PAX6" "01610" "PAX6" "01657" "PAX6" "02487" "PAX6" "05622" ## Individuals ## Do not remove or alter this header ## ## Count = 155 "{{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}}" "00036450" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036451" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036452" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036453" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036454" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036455" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036456" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036457" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037525" "" "" "" "1" "" "01239" "" "" "M" "no" "" "" "0" "" "" "white" "" "00080926" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected non-carrier parents" "" "" "" "" "0" "" "" "" "" "00147127" "" "" "" "1" "" "02357" "{PMID:Han 2018:30631761}" "" "" "" "Korea" "" "0" "" "" "" "30631761-Pat41_S5" "00207488" "" "" "" "3" "" "01244" "" "" "F" "" "" "" "0" "" "" "" "" "00246127" "" "" "" "4" "" "00006" "{PMID:Xiao 2019:31161946}" "3-generation family, 4 affected (2F, 2M)" "M" "" "China" "" "0" "" "" "" "PatI2" "00246128" "00246127" "" "00246127" "1" "" "00006" "{PMID:Xiao 2019:31161946}" "daughter of PatI2" "F" "" "China" "" "0" "" "" "" "PatII4" "00246129" "00246127" "" "00246127" "1" "" "00006" "{PMID:Xiao 2019:31161946}" "daughter of PatI2" "F" "" "China" "" "0" "" "" "" "PatII5" "00246130" "" "00246129" "00246127" "1" "" "00006" "{PMID:Xiao 2019:31161946}" "son of PatII5" "M" "" "China" "" "0" "" "" "" "PatIII4" "00269925" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00290377" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290378" "" "" "" "57" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00296533" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00304301" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00307760" "" "" "" "1" "" "00006" "{PMID:Grozeva 2015:26350204}, {DOI:Grozeva 2015:10.1002/humu.22901}" "" "M" "" "" "" "0" "" "" "" "UK10K_FINDWGA5410895" "00309280" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" "" "00309281" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" "" "00314750" "" "" "" "1" "" "00006" "{PMID:Lima Cunha 2020:33024313}" "2-generation family, 1 affected, unaffected parents" "F" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Fam1Pat1-3" "00314751" "" "" "" "1" "" "00006" "{PMID:Lima Cunha 2020:33024313}" "2-generation family, 3 affected sibs (2F, M), unaffected parents" "F;M" "no" "Somalia" "" "0" "" "" "" "Fam2Pat2-3/4/5" "00332101" "" "" "" "1" "" "00000" "{PMID:Patel 2017:29450879}" "patient" "" "yes" "Saudi Arabia" "" "0" "" "" "" "F29‐M" "00332179" "" "" "00332178" "1" "" "00006" "{PMID:de CastrojalopezMiro 2018:29367200}" "affected female" "F" "" "" "" "0" "" "" "" "Fam8NCEPatIv3" "00332399" "" "" "" "1" "" "00000" "{PMID:Rim 2017:29145603}" "" "F" "" "Korea" "" "0" "" "" "" "Pat20" "00332400" "" "" "" "1" "" "00000" "{PMID:Rim 2017:29145603}" "" "M" "" "Korea" "" "0" "" "" "" "Pat21" "00332401" "" "" "" "1" "" "00000" "{PMID:Rim 2017:29145603}" "" "F" "" "Korea" "" "0" "" "" "" "Pat22" "00332402" "" "" "" "1" "" "00000" "{PMID:Rim 2017:29145603}" "" "M" "" "Korea" "" "0" "" "" "" "Pat23" "00333928" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "F" "" "(United States)" "" "0" "" "" "" "351" "00335134" "" "" "" "1" "" "00000" "{PMID:Haer-Wigman 2017:28224992}" "family" "" "no" "Netherlands" "" "0" "" "" "" "4212" "00371662" "" "" "" "1" "" "01164" "" "" "M" "?" "Germany" "" "0" "" "" "" "178813" "00378060" "" "" "" "1" "" "03508" "" "" "F" "" "Korea, South (Republic)" "" "0" "" "" "" "IR_SH_0028" "00379764" "" "" "" "1" "" "03508" "" "" "M" "" "Korea, South (Republic)" "" "0" "" "" "" "IR_GH_0112" "00380089" "" "" "" "1" "" "03508" "" "" "F" "" "Korea, South (Republic)" "" "0" "" "" "" "IR_GH_0179" "00382120" "" "" "" "1" "" "00000" "{PMID:Patel 2019:30653986}" "" "?" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "241" "00382738" "" "" "" "1" "" "03508" "" "" "M" "" "Korea, South (Republic)" "" "" "" "" "" "1290404" "00382739" "" "" "" "1" "" "03508" "" "" "M" "" "Korea, South (Republic)" "" "" "" "" "" "4005057" "00382740" "" "" "" "1" "" "03508" "" "" "F" "" "Korea, South (Republic)" "" "" "" "" "" "5184448" "00382741" "" "" "" "1" "" "03508" "" "" "F" "" "Korea, South (Republic)" "" "" "" "" "" "7422048" "00382742" "" "" "" "1" "" "03508" "" "" "F" "" "Korea, South (Republic)" "" "" "" "" "" "7448947" "00382743" "" "" "" "1" "" "03508" "" "" "M" "" "Korea, South (Republic)" "" "" "" "" "" "8250251" "00382744" "" "" "" "1" "" "03508" "" "" "M" "" "Korea, South (Republic)" "" "" "" "" "" "8265095" "00382745" "" "" "" "1" "" "03508" "" "" "F" "" "Korea, South (Republic)" "" "" "" "" "" "8458803" "00382746" "" "" "" "1" "" "03508" "" "" "F" "" "Korea, South (Republic)" "" "" "" "" "" "8576439" "00382747" "" "" "" "1" "" "03508" "" "" "M" "" "Korea, South (Republic)" "" "" "" "" "" "8641603" "00382748" "" "" "" "1" "" "03508" "" "" "M" "" "Korea, South (Republic)" "" "" "" "" "" "8808547" "00382749" "" "" "" "1" "" "03508" "" "" "M" "" "Korea, South (Republic)" "" "" "" "" "" "9037671" "00382750" "" "" "" "1" "" "03508" "" "" "F" "" "Korea, South (Republic)" "" "" "" "" "" "9338938" "00382751" "" "" "" "1" "" "03508" "" "" "F" "" "Korea, South (Republic)" "" "" "" "" "" "4375217" "00382752" "" "" "" "1" "" "03508" "" "" "M" "" "Korea, South (Republic)" "" "" "" "" "" "9290975" "00383387" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31555371}" "Family 3, individual IV-1" "M" "" "China" "" "0" "" "" "" "3_IV-1" "00384235" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31106028}" "" "M" "" "China" "" "0" "" "" "" "12412" "00384245" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31106028}" "" "M" "" "China" "" "0" "" "" "" "1312" "00384291" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31106028}" "" "F" "" "China" "" "0" "" "" "" "13493" "00384315" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31106028}" "" "F" "" "China" "" "0" "" "" "" "13626" "00384338" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31106028}" "" "M" "" "China" "" "0" "" "" "" "13752" "00384418" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31106028}" "" "F" "" "China" "" "0" "" "" "" "14402" "00384428" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31106028}" "" "M" "" "China" "" "0" "" "" "" "14474" "00384437" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31106028}" "" "F" "" "China" "" "0" "" "" "" "14530" "00384486" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31106028}" "" "M" "" "China" "" "0" "" "" "" "14858" "00384488" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31106028}" "" "F" "" "China" "" "0" "" "" "" "14860" "00384507" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31106028}" "" "F" "" "China" "" "0" "" "" "" "18896" "00385520" "" "" "" "1" "" "00000" "{PMID:Lenassi 2020:31848469}" "retrospective analysis" "F" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "17012891" "00387677" "" "" "" "1" "" "00000" "{PMID:Zanolli 2020:32141364}" "individual ID not present in paper, consecutive numbers given" "?" "" "Chile" "" "0" "" "" "" "76" "00390037" "" "" "" "1" "" "00000" "{PMID:Liu 2020:32562694}" "" "?" "" "China" "" "0" "" "" "" "G1494" "00390043" "" "" "" "1" "" "00000" "{PMID:Liu 2020:32562694}" "" "?" "" "China" "" "0" "" "" "" "G1518" "00391378" "" "" "" "1" "" "00000" "{PMID:Méjécase 2020:3278337" "" "?" "" "United Arab Emirates" "" "0" "" "" "" "46" "00392256" "" "" "" "1" "" "00000" "{PMID:Bell 2021:33494148}" "" "F" "no" "(United Kingdom (Great Britain))" "" "0" "" "" "" "1" "00392266" "" "" "" "1" "" "00000" "{PMID:Bell 2021:33494148}" "" "F" "no" "(United Kingdom (Great Britain))" "" "0" "" "" "" "13" "00392272" "" "" "" "1" "" "00000" "{PMID:Bell 2021:33494148}" "" "M" "no" "(United Kingdom (Great Britain))" "" "0" "" "" "" "25" "00401181" "" "" "" "1" "" "00006" "{PMID:Ehrenberg 2021:33594928}" "" "F" "" "Israel" "" "0" "" "" "Jewish-Ashkenazi" "Pat15" "00401182" "" "" "" "1" "" "00006" "{PMID:Ehrenberg 2021:33594928}" "" "F" "" "Israel" "" "0" "" "" "Jewish-Ashkenazi" "Pat16" "00401183" "" "" "" "1" "" "00006" "{PMID:Ehrenberg 2021:33594928}" "" "F" "" "Syria;Morocco" "" "0" "" "" "Jewish" "Pat17" "00401184" "" "" "" "2" "" "00006" "{PMID:Ehrenberg 2021:33594928}" "family, diamniotic-dichorionic twins" "M" "" "Poland;Italy;Ireland;Portugal" "" "0" "" "" "Jewish" "FamPat18" "00401185" "" "" "00401184" "1" "" "00006" "{PMID:Ehrenberg 2021:33594928}" "twin" "M" "" "Poland;Italy;Ireland;Portugal" "" "0" "" "" "Jewish" "FamPat19" "00401186" "" "" "" "1" "" "00006" "{PMID:Ehrenberg 2021:33594928}" "" "M" "" "France;Italy;England;Sweden;Poland" "" "0" "" "" "Jewish" "Pat20" "00401187" "" "" "" "1" "" "00006" "{PMID:Ehrenberg 2021:33594928}" "" "F" "" "Italy;Poland" "" "0" "" "" "Jewish" "Pat21" "00401188" "" "" "" "2" "" "00006" "{PMID:Ehrenberg 2021:33594928}" "family, affected mother/son" "F" "" "Israel" "" "0" "" "" "Jewish;Kurdistan" "FamPat23" "00401189" "" "" "00401188" "1" "" "00006" "{PMID:Ehrenberg 2021:33594928}" "son" "M" "" "Morocco" "" "0" "" "" "Jewish;Kurdistan" "FamPat22" "00401190" "" "" "" "1" "" "00006" "{PMID:Ehrenberg 2021:33594928}" "" "F" "" "Greece;Syria;Iran" "" "0" "" "" "Jewish" "Pat24" "00408881" "" "" "" "1" "" "00000" "{PMID:Henderson-2007:17406642}" "" "F" "" "" "" "0" "" "" "" "" "00414345" "" "" "" "1" "" "00000" "{PMID:Sun 2018:30076350}" "" "M" "" "China" "" "0" "" "" "" "WHP12" "00414396" "" "" "" "1" "" "00000" "{PMID:Sun 2018:30076350}" "" "F" "" "China" "" "0" "" "" "" "WHP63" "00419569" "" "" "" "2" "" "02300" "{PMID:Marinakis 2021:34008892}" "2-generation family, patient and similarly affected mother" "F" "" "Greece" "" "0" "" "" "" "8048" "00434027" "" "" "" "2" "" "00006" "{PMID:Jiao 2022:36670602}" "2-generation family, affected mother/son" "F" "" "Ukraine" "" "0" "" "" "" "Fam97008Pat1" "00434028" "" "" "00434027" "1" "" "00006" "{PMID:Jiao 2022:36670602}" "son" "M" "" "Ukraine" "" "0" "" "" "" "Fam97008Pat3" "00434043" "" "" "" "1" "" "00006" "{PMID:Zhai 2017:28450710}" "2-generation family, 1 affected" "M" "" "China" "" "0" "" "" "" "Fam24" "00434045" "" "" "" "4" "" "00006" "{PMID:Zhai 2017:28450710}" "3-generation family, 4 affected (2F, 2M)" "F" "" "China" "" "0" "" "" "" "Fam27" "00434075" "" "" "" "1" "" "00006" "{PMID:Li 2016:27307692}" "" "" "" "China" "" "0" "" "" "" "Pat31" "00434177" "" "" "" "1" "" "00006" "{PMID:Fernandez-Alcalde 2021:33923544}" "" "" "" "Spain" "" "0" "" "" "" "Fam22" "00434178" "" "" "" "1" "" "00006" "{PMID:Fernandez-Alcalde 2021:33923544}" "" "" "" "Spain" "" "0" "" "" "" "Fam23" "00434208" "" "" "" "1" "" "00006" "{PMID:Jackson 2020:32830442}" "" "F" "" "" "" "0" "" "" "" "Fam20PatI" "00434234" "" "" "" "1" "" "00006" "{PMID:Jackson 2020:32830442}" "" "" "" "" "" "0" "" "" "white" "Fam25272" "00434239" "" "" "" "1" "" "00006" "{PMID:Jackson 2020:32830442}" "" "" "" "" "" "0" "" "" "Asia;white" "Fam25755" "00444297" "" "" "" "1" "" "00006" "{PMID:Moon 2021:35052368}" "" "" "" "Korea" "" "0" "" "" "" "Pat64" "00444298" "" "" "" "1" "" "00006" "{PMID:Moon 2021:35052368}" "" "" "" "Korea" "" "0" "" "" "" "Pat65" "00444299" "" "" "" "1" "" "00006" "{PMID:Moon 2021:35052368}" "" "" "" "Korea" "" "0" "" "" "" "Pat66" "00444300" "" "" "" "1" "" "00006" "{PMID:Moon 2021:35052368}" "" "" "" "Korea" "" "0" "" "" "" "Pat67" "00444301" "" "" "" "1" "" "00006" "{PMID:Moon 2021:35052368}" "" "" "" "Korea" "" "0" "" "" "" "Pat68" "00444302" "" "" "" "1" "" "00006" "{PMID:Moon 2021:35052368}" "" "" "" "Korea" "" "0" "" "" "" "Pat69" "00444303" "" "" "" "1" "" "00006" "{PMID:Moon 2021:35052368}" "" "" "" "Korea" "" "0" "" "" "" "Pat70" "00444348" "" "" "" "2" "" "00006" "{PMID:Li 2018:29914532}" "2-generation family, 1 affected brothers, unaffected mother (germline mosiac)" "M" "" "China" "" "0" "" "" "" "Fam12PatII1/2" "00444365" "" "" "" "4" "" "00006" "{PMID:Riera 2017:29178648}" "4-generation family, 4 affected (3F, M); grandmother likely germline mosaic" "F;M" "" "Spain" "" "0" "" "" "" "FamMA_2" "00444870" "" "" "" "2" "" "00006" "{PMID:Fan 2020:32883240}" "2-generation family, affected mother/sib" "" "" "China" "" "0" "" "" "" "Fam10" "00444871" "" "" "" "2" "" "00006" "{PMID:Fan 2020:32883240}" "2-generation family, affected mother/sib" "" "" "China" "" "0" "" "" "" "Fam11" "00444872" "" "" "" "2" "" "00006" "{PMID:Fan 2020:32883240}" "2-generation family, affected mother/sib" "" "" "China" "" "0" "" "" "" "Fam12" "00444893" "" "" "" "5" "" "00006" "{PMID:Ma 2016:26694549}" "4-generation family, 5 affected (2F, 3M)" "M" "" "Australia" "" "0" "" "" "" "Fam10PatIII3" "00444901" "" "" "" "1" "" "00006" "{PMID:Ma 2016:26694549}" "2-generation family, 1 affected, unaffected parents" "M" "" "Australia" "" "0" "" "" "" "Fam18PatII1" "00444945" "" "" "" "1" "" "00006" "{PMID:Patel 2017:27878435}" "simplex case" "" "" "" "" "0" "" "" "" "10DG1895" "00445095" "" "" "" "1" "" "00006" "{PMID:Reichsteiner 2021:34014271}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "Switzerland" "" "0" "" "" "" "Fam13PatII1" "00446419" "" "" "" "2" "" "00006" "{PMID:Liu 2023:37337769}" "2-generation family, affected father/daughter" "F" "" "China" "" "0" "" "" "" "Fam3Pat14" "00446420" "" "" "00446419" "1" "" "00006" "{PMID:Liu 2023:37337769}" "father" "M" "" "China" "" "0" "" "" "" "Fam3Pat15" "00446425" "" "" "" "4" "" "00006" "{PMID:Liu 2023:37337769}" "4-generation family, 4 affected (2F, 2M)" "M" "" "China" "" "0" "" "" "" "Fam9Pat29" "00446426" "" "" "00446425" "1" "" "00006" "{PMID:Liu 2023:37337769}" "relative" "F" "" "China" "" "0" "" "" "" "Fam9Pat30" "00446427" "" "" "00446425" "1" "" "00006" "{PMID:Liu 2023:37337769}" "relative" "M" "" "China" "" "0" "" "" "" "Fam9Pat32" "00446428" "" "" "00446425" "1" "" "00006" "{PMID:Liu 2023:37337769}" "relative" "F" "" "China" "" "0" "" "" "" "Fam9Pat33" "00446442" "" "" "" "2" "" "00006" "{PMID:Liu 2023:37337769}" "2-generation family, affected father/daughter" "F" "" "China" "" "0" "" "" "" "Fam24Pat65" "00446443" "" "" "00446442" "1" "" "00006" "{PMID:Liu 2023:37337769}" "father" "M" "" "China" "" "0" "" "" "" "Fam24Pat67" "00446477" "" "" "" "3" "" "00006" "{PMID:Liu 2023:37337769}" "3-generation family, 4 affected (3F, M)" "M" "" "China" "" "0" "" "" "" "Fam75Pat207" "00446478" "" "" "00446477" "1" "" "00006" "{PMID:Liu 2023:37337769}" "mother" "F" "" "China" "" "0" "" "" "" "Fam75Pat209" "00446485" "" "" "" "2" "" "00006" "{PMID:Liu 2023:37337769}" "family" "F" "" "China" "" "0" "" "" "" "Fam87Pat240" "00446486" "" "" "00446485" "1" "" "00006" "{PMID:Liu 2023:37337769}" "relative" "F" "" "China" "" "0" "" "" "" "Fam87Pat242" "00446489" "" "" "" "7" "" "00006" "{PMID:Liu 2023:37337769}" "3-generation family, 7 affected (5F, 2M)" "M" "" "China" "" "0" "" "" "" "Fam90Pat249" "00446493" "" "" "" "2" "" "00006" "{PMID:Liu 2023:37337769}" "2-generation family, affected mother/son" "M" "" "China" "" "0" "" "" "" "Fam98Pat270" "00446504" "" "" "" "2" "" "00006" "{PMID:Liu 2023:37337769}" "3-generation family, 3 affected (3F)" "F" "" "China" "" "0" "" "" "" "Fam111Pat297" "00446505" "" "" "00446504" "1" "" "00006" "{PMID:Liu 2023:37337769}" "daughter" "F" "" "China" "" "0" "" "" "" "Fam111Pat298" "00446520" "" "" "" "2" "" "00006" "{PMID:Liu 2023:37337769}" "2-generation family, affected mother/daughter" "F" "" "China" "" "0" "" "" "" "Fam123Pat326" "00446521" "" "" "00446520" "1" "" "00006" "{PMID:Liu 2023:37337769}" "mother" "F" "" "China" "" "0" "" "" "" "Fam123Pat328" "00446541" "" "" "" "2" "" "00006" "{PMID:Liu 2023:37337769}" "2-generation family, affected father/son" "M" "" "China" "" "0" "" "" "" "Fam148Pat393" "00446542" "" "" "00446541" "1" "" "00006" "{PMID:Liu 2023:37337769}" "father" "M" "" "China" "" "0" "" "" "" "Fam148Pat395" "00450410" "" "" "" "1" "" "00006" "{PMID:Hall 2024:38050128}" "" "" "" "" "" "0" "" "" "" "RPID2134" "00450411" "" "" "" "1" "" "00006" "{PMID:Hall 2024:38050128}" "" "" "" "" "" "0" "" "" "" "RPID877" "00450412" "" "" "" "1" "" "00006" "{PMID:Hall 2024:38050128}" "" "" "" "" "" "0" "" "" "" "RPID1019" "00450413" "" "" "" "1" "" "00006" "{PMID:Hall 2024:38050128}" "" "" "" "" "" "0" "" "" "" "RPID1500" "00450414" "" "" "" "1" "" "00006" "{PMID:Hall 2024:38050128}" "" "" "" "" "" "0" "" "" "" "RPID5645" "00450415" "" "" "" "1" "" "00006" "{PMID:Hall 2024:38050128}" "" "" "" "" "" "0" "" "" "" "RPID1635" "00450416" "" "" "" "1" "" "00006" "{PMID:Hall 2024:38050128}" "" "" "" "" "" "0" "" "" "" "RPID3612" "00450417" "" "" "" "1" "" "00006" "{PMID:Hall 2024:38050128}" "" "" "" "" "" "0" "" "" "" "RPID75" "00450418" "" "" "" "1" "" "00006" "{PMID:Hall 2024:38050128}" "" "" "" "" "" "0" "" "" "" "RPID724" "00450419" "" "" "" "1" "" "00006" "{PMID:Hall 2024:38050128}" "" "" "" "" "" "0" "" "" "" "RPID1496" "00450420" "" "" "" "1" "" "00006" "{PMID:Hall 2024:38050128}" "" "" "" "" "" "0" "" "" "" "RPID1524" "00450421" "" "" "" "2" "" "00006" "{PMID:Hall 2024:38050128}" "2-generation family, 2 affected half-brothers" "" "" "" "" "0" "" "" "" "RPID2464" "00450422" "" "" "" "1" "" "00006" "{PMID:Hall 2024:38050128}" "" "" "" "" "" "0" "" "" "" "RPID1190" "00450423" "" "" "" "1" "" "00006" "{PMID:Hall 2024:38050128}" "" "" "" "" "" "0" "" "" "" "RPID1361" "00450424" "" "" "" "1" "" "00006" "{PMID:Hall 2024:38050128}" "" "" "" "" "" "0" "" "" "" "RPID1646" "00450425" "" "" "" "1" "" "00006" "{PMID:Hall 2024:38050128}" "" "" "" "" "" "0" "" "" "" "RPID535" "00450426" "" "" "" "1" "" "00006" "{PMID:Hall 2024:38050128}" "" "" "" "" "" "0" "" "" "" "RPID774" "00450427" "" "" "" "1" "" "00006" "{PMID:Hall 2024:38050128}" "" "" "" "" "" "0" "" "" "" "RPID356" "00450428" "" "" "" "1" "" "00006" "{PMID:Hall 2024:38050128}" "" "" "" "" "" "0" "" "" "" "RPID1271" "00450432" "" "" "" "1" "" "00006" "{PMID:Hall 2024:38050128}" "" "" "" "" "" "0" "" "" "" "RPID1201" "00466692" "" "" "" "1" "" "00006" "{PMID:Plachy 2019:30753492}" "" "M" "" "Czech Republic" "" "0" "" "" "" "Pat13" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 151 "{{individualid}}" "{{diseaseid}}" "00036451" "01178" "00036454" "00198" "00036456" "00198" "00036457" "01178" "00037525" "00198" "00080926" "01178" "00147127" "05162" "00207488" "04210" "00246127" "01178" "00246128" "01178" "00246129" "01178" "00246130" "01178" "00269925" "00198" "00290377" "00198" "00290378" "00198" "00296533" "00198" "00304301" "00198" "00307760" "00139" "00309280" "04214" "00309281" "04214" "00314750" "00198" "00314751" "00198" "00332101" "00356" "00332179" "00198" "00332399" "04214" "00332400" "04214" "00332401" "04214" "00332402" "04214" "00333928" "04214" "00335134" "00198" "00371662" "05622" "00378060" "04214" "00379764" "04214" "00380089" "04214" "00382120" "05622" "00382738" "00198" "00382739" "00198" "00382740" "00198" "00382741" "00198" "00382742" "00198" "00382743" "00198" "00382744" "00198" "00382745" "00198" "00382746" "00198" "00382747" "00198" "00382748" "00198" "00382749" "00198" "00382750" "00198" "00382751" "00198" "00382752" "00198" "00383387" "05165" "00384235" "01178" "00384245" "01178" "00384291" "01178" "00384315" "00198" "00384338" "01178" "00384418" "01178" "00384428" "01178" "00384437" "00198" "00384486" "00198" "00384488" "00198" "00384507" "01178" "00385520" "04214" "00387677" "04214" "00390037" "04214" "00390043" "04214" "00391378" "04214" "00392256" "04214" "00392266" "04214" "00392272" "04214" "00401181" "00198" "00401182" "00198" "00401183" "00198" "00401184" "00198" "00401185" "00198" "00401186" "00198" "00401187" "00198" "00401188" "00198" "00401189" "00198" "00401190" "00198" "00408881" "04214" "00414345" "00198" "00414396" "00198" "00419569" "00198" "00434027" "00296" "00434028" "00296" "00434043" "00296" "00434045" "00296" "00434075" "00296" "00434177" "00296" "00434178" "00296" "00434208" "00198" "00434234" "00198" "00434239" "00198" "00444297" "04214" "00444298" "04214" "00444299" "04214" "00444300" "04214" "00444301" "04214" "00444302" "04214" "00444303" "04214" "00444348" "00296" "00444365" "00356" "00444870" "00296" "00444871" "00296" "00444872" "00296" "00444893" "00296" "00444901" "00296" "00444945" "00296" "00445095" "00296" "00446419" "00296" "00446420" "00296" "00446425" "00296" "00446426" "00296" "00446427" "00296" "00446428" "00296" "00446442" "00296" "00446443" "00296" "00446477" "00296" "00446478" "00296" "00446485" "00296" "00446486" "00000" "00446489" "00296" "00446493" "00296" "00446504" "00296" "00446505" "00296" "00446520" "00296" "00446521" "00296" "00446541" "00296" "00446542" "00296" "00450410" "01178" "00450411" "01178" "00450412" "01178" "00450413" "01178" "00450414" "01178" "00450415" "01178" "00450416" "01178" "00450417" "01178" "00450418" "01178" "00450419" "01178" "00450420" "01178" "00450421" "01178" "00450422" "01178" "00450423" "01178" "00450424" "01178" "00450425" "01178" "00450426" "01178" "00450427" "01178" "00450428" "01178" "00450432" "01178" "00466692" "04184" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00139, 00198, 00296, 00356, 00953, 01178, 01258, 01335, 01402, 01478, 01610, 01657, 02487, 04184, 04210, 04214, 05162, 05165, 05622 ## Count = 146 "{{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}}" "0000028045" "00198" "00037525" "01239" "Familial" "06y" "Microphthalmia\r\nPrimary Aphakia\r\nIris Hypoplasia\r\nPapillary Coloboma\r\nSclerocornea\r\nCongenital Glaucoma\r\nMicrocephaly" "" "" "" "" "" "" "" "" "" "" "" "0000060495" "01178" "00080926" "01758" "Isolated (sporadic)" "" "Aniridia (OMIM:106210)" "" "" "" "" "" "" "" "" "" "" "" "0000155265" "04210" "00207488" "01244" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000156533" "01178" "00036451" "01164" "Unknown" "" "aniridia" "" "" "" "" "" "" "" "" "" "aniridia" "" "0000156534" "00198" "00036454" "01164" "Unknown" "" "bilateral Cataracta congenita, Irisatrophie, Sphinkteraplasie, Irisgefäße gehen auf Linse über, wahrscheinlich Reste der fetalen Pupillarmembran" "" "" "" "" "" "" "" "" "" "cataract?" "" "0000156535" "00198" "00036456" "01164" "Unknown" "" "DD WAGR syndrome, Aniridie, Makularhypoplasie" "" "" "" "" "" "" "" "" "" "developmental delay" "" "0000156536" "01178" "00036457" "01164" "Unknown" "" "aniridia" "" "" "" "" "" "" "" "" "" "aniridia" "" "0000171225" "05162" "00147127" "02357" "Isolated (sporadic)" "" "developmental delay, intellectual disability, no epilepsy, aniridria, ASD" "" "" "" "" "" "" "" "" "AN" "developmental delay" "" "0000185979" "01178" "00246127" "00006" "Familial, autosomal dominant" "64y" "best corrected visual acuity R/L 0.05/0.02; aniridia-related keratopathy; complete aniridia; cataract; no glauvoma; macular hypoplasia; nystagmus; esotropia; no ptosis; normal psychomotor development" "" "" "" "" "" "" "" "" "AN-1" "congenital aniridia" "" "0000185980" "01178" "00246128" "00006" "Familial, autosomal dominant" "37y" "best corrected visual acuity R/L 0.02/0.02; no aniridia-related keratopathy; complete aniridia; cataract; no glauvoma; macular hypoplasia; nystagmus; no strabismus ; no ptosis; normal psychomotor development" "" "" "" "" "" "" "" "" "AN-1" "congenital aniridia" "" "0000185981" "01178" "00246129" "00006" "Familial, autosomal dominant" "35y" "best corrected visual acuity R/L 0.1/0.1; no aniridia-related keratopathy; complete aniridia; aphakia, posterior capsule opacification; no glauvoma; macular hypoplasia uncertain (because of PCO); nystagmus; no strabismus ; no ptosis; normal psychomotor development" "" "" "" "" "" "" "" "" "AN-1" "congenital aniridia" "" "0000185982" "01178" "00246130" "00006" "Familial, autosomal dominant" "12y" "best corrected visual acuity R/L 0.2/0.2; no aniridia-related keratopathy; complete aniridia; aphakia, posterior capsule opacification; no glauvoma; macular hypoplasia uncertain (because of PCO); nystagmus; exotropia; ptosis; normal psychomotor development" "" "" "" "" "" "" "" "" "AN-1" "congenital aniridia" "" "0000207721" "00198" "00269925" "01164" "Unknown" "" "Macular hypoplasia (HP:0001104); Abnormality of the lens (HP:0000517); Congenital cataract (HP:0000519); Aplasia/Hypoplasia of the retina (HP:0008061)" "" "" "" "" "" "" "" "" "" "" "" "0000223939" "00198" "00296533" "01164" "Unknown" "" "Abnormality of the iris (HP:0000525); Aniridia (HP:0000526)" "" "" "" "" "" "" "" "" "" "" "" "0000234600" "04214" "00309280" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "aniridia" "" "0000234601" "04214" "00309281" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "aniridia" "" "0000238549" "00198" "00314750" "00006" "Isolated (sporadic)" "" "see paper; isolated foveal hypoplasia, nystagmus, ..." "" "" "" "" "" "" "" "" "" "" "" "0000238550" "00198" "00314751" "00006" "Familial, autosomal recessive" "" "see paper; isolated foveal hypoplasia, nystagmus, ..." "" "" "" "" "" "" "" "" "" "" "" "0000250292" "00356" "00332101" "00000" "Unknown" "" "microphthalmia, anterior segment dysgenesis" "" "" "" "" "" "" "" "" "" "non‐syndromic microphthalmia" "" "0000250367" "00198" "00332179" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000250585" "04214" "00332399" "00000" "Familial, autosomal dominant" "9y9m" "vertical jerk nystagmus; fundus grossly normal; no oculodigital sign; cataract" "" "" "" "" "" "" "" "" "PAX6" "idiopathic infantile nystagmus" "" "0000250586" "04214" "00332400" "00000" "Familial, autosomal dominant" "26y7m" "horizontal jerk nystagmus; fundus no foveal reflex; no oculodigital sign; cataract" "" "" "" "" "" "" "" "" "PAX6" "PAX6" "" "0000250587" "04214" "00332401" "00000" "Familial, autosomal dominant" "8y9m" "horizontal pendular nystagmus; fundus no foveal reflex; no oculodigital sign" "" "" "" "" "" "" "" "" "PAX6" "PAX6" "" "0000250588" "04214" "00332402" "00000" "Familial, autosomal dominant" "18y5m" "horizontal jerk nystagmus; fundus no foveal reflex; no oculodigital sign" "" "" "" "" "" "" "" "" "PAX6" "idiopathic infantile nystagmus" "" "0000252113" "04214" "00333928" "00000" "Isolated (sporadic)" "55y" "clinical category IA1b" "" "" "" "" "" "" "" "" "" "cone rod dystrophy" "" "0000252849" "00198" "00335134" "00000" "Familial, autosomal dominant" "" "0y-diagnosis visual impairment" "" "" "" "" "" "" "" "" "" "aniridia" "" "0000266999" "05622" "00371662" "01164" "Unknown" "" "(+) Abnormality of the lens,(+) Cataract" "" "" "" "" "" "" "" "" "" "1y" "" "0000274271" "04214" "00378060" "03508" "Familial, autosomal dominant" "" "HP:0032037, HP:0001129, HP:0000639, HP:0000006, HP:0000639, HP:0007750, HP:0000526" "" "" "" "" "" "" "" "" "" "PAX6-related phenotype" "" "0000274275" "04214" "00379764" "03508" "Familial, autosomal dominant" "" "HP:0030515, HP:0000613, HP:0000639, HP:0000526, HP:0007750" "" "" "" "" "" "" "" "" "" "PAX6-related phenotype" "" "0000274278" "04214" "00380089" "03508" "Familial, autosomal dominant" "" "HP:0030515, HP:0000639, HP:0000526, HP:0007750" "" "" "" "" "" "" "" "" "" "PAX6-related phenotype" "" "0000275962" "05622" "00382120" "00000" "Familial, autosomal dominant" "" "anterior segment developmental anomalies including glaucoma; MIM, 106210" "" "" "" "" "" "" "" "" "" "MIM, 106210" "" "0000276586" "00198" "00382738" "03508" "Familial, autosomal dominant" "" "HP:0000639, HP:0033743, HP:0000639" "" "" "" "" "" "" "" "" "" "PAX6-related phenotype" "" "0000276587" "00198" "00382739" "03508" "Familial, autosomal dominant" "" "HP:0000639, HP:0033743, HP:0000639" "" "" "" "" "" "" "" "" "" "PAX6-related phenotype-related phenotype" "" "0000276588" "00198" "00382740" "03508" "Familial, autosomal dominant" "" "HP:0000639, HP:0033743, HP:0000639" "" "" "" "" "" "" "" "" "" "PAX6-related phenotype-related phenotype" "" "0000276589" "00198" "00382741" "03508" "Familial, autosomal dominant" "" "HP:0000639, HP:0033743, HP:0000639" "" "" "" "" "" "" "" "" "" "PAX6-related phenotype-related phenotype" "" "0000276590" "00198" "00382742" "03508" "Familial, autosomal dominant" "" "HP:0000639, HP:0033743, HP:0000639" "" "" "" "" "" "" "" "" "" "PAX6-related phenotype" "" "0000276591" "00198" "00382743" "03508" "Familial, autosomal dominant" "" "HP:0000639, HP:0033743, HP:0000639" "" "" "" "" "" "" "" "" "" "PAX6-related phenotype-related phenotype" "" "0000276592" "00198" "00382744" "03508" "Familial, autosomal dominant" "" "HP:0000639, HP:0033743, HP:0000639" "" "" "" "" "" "" "" "" "" "PAX6-related phenotype" "" "0000276593" "00198" "00382745" "03508" "Familial, autosomal dominant" "" "HP:0000639, HP:0033743, HP:0000639" "" "" "" "" "" "" "" "" "" "PAX6-related phenotype" "" "0000276594" "00198" "00382746" "03508" "Familial, autosomal dominant" "" "HP:0000639, HP:0033743, HP:0000639" "" "" "" "" "" "" "" "" "" "PAX6-related phenotype" "" "0000276595" "00198" "00382747" "03508" "Familial, autosomal dominant" "" "HP:0000639, HP:0033743, HP:0000639" "" "" "" "" "" "" "" "" "" "PAX6-related phenotype" "" "0000276596" "00198" "00382748" "03508" "Familial, autosomal dominant" "" "HP:0000639, HP:0033743, HP:0000639" "" "" "" "" "" "" "" "" "" "PAX6-related phenotype-related phenotype" "" "0000276597" "00198" "00382749" "03508" "Familial, autosomal dominant" "" "HP:0000639, HP:0033743, HP:0000639" "" "" "" "" "" "" "" "" "" "PAX6-related phenotype" "" "0000276599" "00198" "00382750" "03508" "Familial, autosomal dominant" "" "HP:0000639, HP:0033743, HP:0000639" "" "" "" "" "" "" "" "" "" "Infantile nystagmus" "" "0000276601" "00198" "00382751" "03508" "Familial, autosomal dominant" "" "HP:0000639, HP:0033743, HP:0000639" "" "" "" "" "" "" "" "" "" "PAX6-related phenotype" "" "0000276602" "00198" "00382752" "03508" "Familial, autosomal dominant" "" "HP:0000639, HP:0033743, HP:0000639" "" "" "" "" "" "" "" "" "" "PAX6-related phenotype" "" "0000277172" "05165" "00383387" "00000" "Familial, autosomal dominant" "14y" "Two round-shaped opacifications in the middle of the lens" "" "" "" "" "" "" "" "" "" "congenital cataract" "" "0000278020" "01178" "00384235" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Aniridia" "" "0000278030" "01178" "00384245" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Aniridia" "" "0000278076" "01178" "00384291" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Aniridia" "" "0000278100" "00198" "00384315" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Congenital motor nystagmus" "" "0000278123" "01178" "00384338" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Aniridia" "" "0000278203" "01178" "00384418" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Aniridia" "" "0000278213" "01178" "00384428" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Aniridia" "" "0000278222" "00198" "00384437" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy+retinal detachment" "" "0000278271" "00198" "00384486" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "optical atrophy" "" "0000278273" "00198" "00384488" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Congenital motor nystagmus" "" "0000278292" "01178" "00384507" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Aniridia" "" "0000279315" "04214" "00385520" "00000" "Familial, autosomal dominant" "" "" "2y" "" "" "" "" "" "" "" "bilateral anterior segment dysgenesis (ASD) including congenital glaucoma" "aniridia" "" "0000281240" "04214" "00387677" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "Aniridia" "Other" "" "0000283577" "04214" "00390037" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "early-onset primary angle closure glaucoma" "early-onset primary angle closure glaucoma" "" "0000283583" "04214" "00390043" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "early-onset primary angle closure glaucoma" "early-onset primary angle closure glaucoma" "" "0000284818" "04214" "00391378" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "Aniridia (106210)" "Aniridia (106210)" "" "0000285534" "04214" "00392256" "00000" "Familial, autosomal dominant" "25y" "Posterior subcapsular cataract cataract, aniridia, nystagmus, glaucoma, foveal hypoplasia" "" "23y4m" "" "" "" "" "" "" "Aniridia" "" "" "0000285544" "04214" "00392266" "00000" "Familial, autosomal dominant" "8y" "Posterior cortical, aniridia, nystagmus, persistent pupillary membrane, foveal hypoplasia," "" "3m" "" "" "" "" "" "" "Aniridia" "" "" "0000285550" "04214" "00392272" "00000" "Familial, autosomal dominant" "31y" "cortical aniridia, foveal hypoplasia, nystagmus" "" "24y10m" "" "" "" "" "" "" "Aniridia" "" "" "0000294224" "00198" "00401181" "00006" "Unknown" "22y" "see paper; ..." "" "" "" "" "" "" "" "" "FVH1" "" "" "0000294225" "00198" "00401182" "00006" "Unknown" "8y" "see paper; ..." "" "" "" "" "" "" "" "" "FVH1" "" "" "0000294226" "00198" "00401183" "00006" "Unknown" "24y" "see paper; ..." "" "" "" "" "" "" "" "" "FVH1" "" "" "0000294227" "00198" "00401184" "00006" "Familial, autosomal dominant" "1y" "see paper; ..." "" "" "" "" "" "" "" "" "FVH1" "" "" "0000294228" "00198" "00401185" "00006" "Familial, autosomal dominant" "1y" "see paper; ..." "" "" "" "" "" "" "" "" "FVH1" "" "" "0000294229" "00198" "00401186" "00006" "Unknown" "4y" "see paper; ..." "" "" "" "" "" "" "" "" "FVH1" "" "" "0000294230" "00198" "00401187" "00006" "Unknown" "23y" "see paper; ..." "" "" "" "" "" "" "" "" "FVH1" "" "" "0000294231" "00198" "00401188" "00006" "Familial, autosomal dominant" "24y" "see paper; ..." "" "" "" "" "" "" "" "" "FVH1" "" "" "0000294232" "00198" "00401189" "00006" "Familial, autosomal dominant" "1y" "see paper; ..." "" "" "" "" "" "" "" "" "FVH1" "" "" "0000294233" "00198" "00401190" "00006" "Unknown" "2y" "see paper; ..." "" "" "" "" "" "" "" "" "FVH1" "" "" "0000300999" "04214" "00408881" "00000" "Unknown" "" "" "0d" "" "microcephalia, microphthalmic right eye and a fixed dilated left pupil" "" "" "" "" "" "" "aniridia, microphthalmia, microcephaly and cafe´ au lait macules" "" "0000306180" "00198" "00414345" "00000" "Familial, autosomal dominant" "41y" "" "" "" "" "" "" "" "" "" "Foveal Hypoplasia and Presenile Cataract Syndrome" "" "" "0000306231" "00198" "00414396" "00000" "Familial, autosomal dominant" "23y" "" "" "" "" "" "" "" "" "" "Aniridia 1" "" "" "0000310850" "00198" "00419569" "02300" "Familial, autosomal dominant" "1y" "" "" "" "" "" "" "" "" "" "" "ocular/auditory abnormality" "" "0000324406" "00296" "00434027" "00006" "Familial, autosomal dominant" "" "congenital cataract; congenital aniridia corneal degeneration;secondary glaucoma, partial optic atrophy; nystagmuscongenital aniridia; visual acuity can’t establish/Hm + 10.0 D" "" "1d" "" "" "" "" "" "" "" "cataract" "" "0000324407" "00296" "00434028" "00006" "Familial, autosomal dominant" "" "Ccngenital cataract, corraliform; congenital aniridia, secondary glaucoma, nystagmus; visual acuity 0.12/0.1" "" "1d" "" "" "" "" "" "" "" "cataract" "" "0000324422" "00296" "00434043" "00006" "Isolated (sporadic)" "7y" "coralliform cataract; nystagmus, aniridia" "" "" "" "" "" "" "" "" "" "cataract" "" "0000324424" "00296" "00434045" "00006" "Familial, autosomal dominant" "28y" "anterior and posterior polar cataract; nystagmus, aniridia" "" "" "" "" "" "" "" "" "" "cataract" "" "0000324451" "00296" "00434075" "00006" "Familial, autosomal dominant" "" "bilateral total cataract" "" "" "" "" "" "" "" "" "" "cataract" "" "0000324535" "00296" "00434177" "00006" "Isolated (sporadic)" "" "nuclear cataract; no microphthalmia; no microcornea; no iris malformations" "" "" "" "" "" "" "" "" "" "cataract" "" "0000324536" "00296" "00434178" "00006" "Unknown" "" "cataract; microphthalmia; microcornea; no iris malformations" "" "" "" "" "" "" "" "" "" "cataract" "" "0000324566" "00198" "00434208" "00006" "Familial, autosomal dominant" "14y" "aniridia; intellectual disability" "" "" "" "" "" "" "" "" "AN1" "aniridia" "" "0000324592" "00198" "00434234" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "microphthalmia, anophthalmia, coloboma" "" "0000324597" "00198" "00434239" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "AN1" "aniridia" "" "0000333550" "04214" "00444297" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "PAX6 phenotype" "" "0000333551" "04214" "00444298" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "PAX6 phenotype" "" "0000333552" "04214" "00444299" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "PAX6 phenotype" "" "0000333553" "04214" "00444300" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "PAX6 phenotype" "" "0000333554" "04214" "00444301" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "PAX6 phenotype" "" "0000333555" "04214" "00444302" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "PAX6 phenotype" "" "0000333556" "04214" "00444303" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "PAX6 phenotype" "" "0000333601" "00296" "00444348" "00006" "Familial, autosomal dominant" "" "cataract, nystagmus" "3m" "" "" "" "" "" "" "" "" "cataract" "" "0000333618" "00356" "00444365" "00006" "Familial, autosomal dominant" "" "see paper; ..., bilateral microphthalmia, congenital cataracts, vertical nystagmus; fundus nomal; foveal hypoplasia" "" "" "" "" "" "" "" "" "" "microphthalmia" "" "0000334120" "00296" "00444870" "00006" "Familial, autosomal dominant" "" "binocular, dot-like" "" "" "" "" "" "" "" "" "" "cataract" "" "0000334121" "00296" "00444871" "00006" "Familial, autosomal dominant" "" "binocular, all white" "" "" "" "" "" "" "" "" "" "cataract" "" "0000334122" "00296" "00444872" "00006" "Familial, autosomal dominant" "" "binocular, nystagmus, posterior polar, OD-anterior segment dysplasia" "" "" "" "" "" "" "" "" "" "cataract" "" "0000334143" "00296" "00444893" "00006" "Familial, autosomal dominant" "" "see paper; ..., right small central anterior capsular cataract, visual acuity R 6/12 L 6/12, nystagmus, limbal stem cell failure, optical coherence tomography shows loss of foveal pit, ectropion uvea; sister VA R6/24 L6/12, anterior polar cataracts, limbal stem cell failure, OCT shows loss of foveal pit, ectropion uvea, fine rotatory nystagmus; mother VA R 6/36+1, L NPL, cataracts, glaucoma, limbal stem cell failure, OCT shows loss of foveal pit, ectropion uvea, AXL R 21.96 HCD R 12.7" "" "" "" "" "" "" "" "" "" "cataract" "" "0000334151" "00296" "00444901" "00006" "Isolated (sporadic)" "" "see paper; ..., bilateral anterior polar cataract with nuclear component, nystagmus, visual acuity 6/24 bilateral" "" "" "" "" "" "" "" "" "" "cataract" "" "0000334195" "00296" "00444945" "00006" "Unknown" "" "congenital cataract with microcornea; not syndromic" "" "" "" "" "" "" "" "" "" "cataract" "" "0000334348" "00296" "00445095" "00006" "Isolated (sporadic)" "" "anterior polar cataract; iris anomaly; macular hypoplasia; non-syndromic" "" "" "" "" "" "" "" "" "" "cataract" "" "0000335642" "00296" "00446419" "00006" "Familial, autosomal dominant" "" "monocular congenital cataract left" "" "" "" "" "" "" "" "" "" "congenital catarct" "" "0000335643" "00296" "00446420" "00006" "Familial, autosomal dominant" "" "bilateral congenital cataract" "" "" "" "" "" "" "" "" "" "congenital catarct" "" "0000335647" "00296" "00446425" "00006" "Familial, autosomal dominant" "" "bilateral congenital cataract" "" "" "" "" "" "" "" "" "" "congenital catarct" "" "0000335648" "00296" "00446426" "00006" "Familial, autosomal dominant" "" "bilateral congenital cataract" "" "" "" "" "" "" "" "" "" "congenital catarct" "" "0000335649" "00296" "00446427" "00006" "Familial, autosomal dominant" "" "bilateral congenital cataract" "" "" "" "" "" "" "" "" "" "congenital catarct" "" "0000335650" "00296" "00446428" "00006" "Familial, autosomal dominant" "" "bilateral congenital cataract" "" "" "" "" "" "" "" "" "" "congenital catarct" "" "0000335663" "00296" "00446442" "00006" "Familial, autosomal dominant" "" "bilateral congenital cataract" "" "" "" "" "" "" "" "" "" "congenital catarct" "" "0000335664" "00296" "00446443" "00006" "Familial, autosomal dominant" "" "bilateral congenital cataract" "" "" "" "" "" "" "" "" "" "congenital catarct" "" "0000335697" "00296" "00446477" "00006" "Familial, autosomal dominant" "" "bilateral congenital cataract" "" "" "" "" "" "" "" "" "" "congenital catarct" "" "0000335698" "00296" "00446478" "00006" "Familial, autosomal dominant" "" "bilateral congenital cataract" "" "" "" "" "" "" "" "" "" "congenital catarct" "" "0000335703" "00296" "00446485" "00006" "Unknown" "" "bilateral congenital cataract" "" "" "" "" "" "" "" "" "" "congenital catarct" "" "0000335706" "00296" "00446489" "00006" "Familial, autosomal dominant" "" "bilateral congenital cataract" "" "" "" "" "" "" "" "" "" "congenital catarct" "" "0000335710" "00296" "00446493" "00006" "Familial, autosomal dominant" "" "bilateral congenital cataract" "" "" "" "" "" "" "" "" "" "congenital catarct" "" "0000335720" "00296" "00446504" "00006" "Familial, autosomal dominant" "" "bilateral congenital cataract" "" "" "" "" "" "" "" "" "" "congenital catarct" "" "0000335721" "00296" "00446505" "00006" "Familial, autosomal dominant" "" "bilateral congenital cataract" "" "" "" "" "" "" "" "" "" "congenital catarct" "" "0000335733" "00296" "00446520" "00006" "Familial, autosomal dominant" "" "bilateral congenital cataract" "" "" "" "" "" "" "" "" "" "congenital catarct" "" "0000335734" "00296" "00446521" "00006" "Familial, autosomal dominant" "" "bilateral congenital cataract" "" "" "" "" "" "" "" "" "" "congenital catarct" "" "0000335748" "00296" "00446541" "00006" "Familial, autosomal dominant" "" "bilateral congenital cataract" "" "" "" "" "" "" "" "" "" "congenital catarct" "" "0000335749" "00296" "00446542" "00006" "Familial, autosomal dominant" "" "bilateral congenital cataract" "" "" "" "" "" "" "" "" "" "congenital catarct" "" "0000339471" "01178" "00450410" "00006" "Isolated (sporadic)" "" "bilateral aniridia, nystagmus, glaucoma" "" "" "" "" "" "" "" "" "AN1" "aniridia" "" "0000339472" "01178" "00450411" "00006" "Unknown" "" "bilateral aniridia, glaucoma, cataracts in young adulthood" "" "" "" "" "" "" "" "" "AN1" "aniridia" "" "0000339473" "01178" "00450412" "00006" "Isolated (sporadic)" "" "aniridia" "" "" "" "" "" "" "" "" "AN1" "aniridia" "" "0000339474" "01178" "00450413" "00006" "Isolated (sporadic)" "" "bilateral aniridia, cataracts (posterior subcapsular), absent foveal reflexes, no nystagmus, vision right 6/12 N5 and left 6/36 N5, corneas clear with fine limbal vessels peripherally" "" "" "" "" "" "" "" "" "AN1" "aniridia" "" "0000339475" "01178" "00450414" "00006" "Isolated (sporadic)" "" "bilateral partial aniridia" "" "" "" "" "" "" "" "" "AN1" "aniridia" "" "0000339476" "01178" "00450415" "00006" "Isolated (sporadic)" "" "variant aniridia: inferior iris defects, peripheral corneal vascularisation, inferior lens opacities, foveal hypoplasia, nystagmus, poor vision" "" "" "" "" "" "" "" "" "AN1" "aniridia" "" "0000339477" "01178" "00450416" "00006" "Isolated (sporadic)" "" "bilateral aniridia, relatively well-preserved foveas, vision 0.4 logMAR, mild keratopathy as teenager, mild cataracts" "" "" "" "" "" "" "" "" "AN1" "aniridia" "" "0000339478" "01178" "00450417" "00006" "Isolated (sporadic)" "" "aniridia" "" "" "" "" "" "" "" "" "AN1" "aniridia" "" "0000339479" "01178" "00450418" "00006" "Familial" "" "aniridia, type 2 diabetes" "" "" "" "" "" "" "" "" "AN1" "aniridia" "" "0000339480" "01178" "00450419" "00006" "Isolated (sporadic)" "" "aniridia" "" "" "" "" "" "" "" "" "AN1" "aniridia" "" "0000339481" "01178" "00450420" "00006" "Familial" "" "aniridia spectrum, iris and foveal hypoplasia, congenital corneal opacification with small lenses apposed to posterior surface of cornea" "" "" "" "" "" "" "" "" "AN1" "aniridia" "" "0000339482" "01178" "00450421" "00006" "Familial" "" "aniridia; half-sibling both affected" "" "" "" "" "" "" "" "" "AN1" "aniridia" "" "0000339483" "01178" "00450422" "00006" "Familial" "" "partial aniridia, cataracts (surgery in late 20s)" "" "" "" "" "" "" "" "" "AN1" "aniridia" "" "0000339484" "01178" "00450423" "00006" "Familial" "" "aniridia" "" "" "" "" "" "" "" "" "AN1" "aniridia" "" "0000339485" "01178" "00450424" "00006" "Unknown" "" "aniridia, glaucoma" "" "" "" "" "" "" "" "" "AN1" "aniridia" "" "0000339486" "01178" "00450425" "00006" "Unknown" "" "bilateral aniridia" "" "" "" "" "" "" "" "" "AN1" "aniridia" "" "0000339487" "01178" "00450426" "00006" "Unknown" "" "bilateral aniridia, cataract, drusen at macula and nasal to the optic disc" "" "" "" "" "" "" "" "" "AN1" "aniridia" "" "0000339488" "01178" "00450427" "00006" "Isolated (sporadic)" "" "bilateral aniridia, congenital cataracts" "" "" "" "" "" "" "" "" "AN1" "aniridia" "" "0000339489" "01178" "00450428" "00006" "Unknown" "" "bilateral aniridia, cataract (extraction both eyes as teenager)" "" "" "" "" "" "" "" "" "AN1" "aniridia" "" "0000339493" "01178" "00450432" "00006" "Unknown" "" "aniridia" "" "" "" "" "" "" "" "" "AN1" "aniridia" "" "0000352055" "04184" "00466692" "00006" "Unknown" "13y" "see paper; ..., growth hormone deficiency; height SDS-3.1; birth weight SDS-0.85, length SDS-0.65" "" "" "" "" "" "" "" "" "" "short stature" "" ## Screenings ## Do not remove or alter this header ## ## Count = 155 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000036520" "00036450" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036521" "00036451" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036522" "00036452" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036523" "00036453" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036524" "00036454" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036525" "00036455" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036526" "00036456" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036527" "00036457" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037619" "00037525" "1" "01239" "01239" "2015-04-08 17:46:57" "" "" "PCR" "DNA" "" "" "0000081038" "00080926" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000147982" "00147127" "1" "02357" "02357" "2018-01-02 11:04:28" "" "" "SEQ-NG-I" "DNA" "" "" "0000208524" "00207488" "1" "01244" "01244" "2018-11-23 16:08:32" "" "" "SEQ-NG-I" "DNA" "Peripheral blood" "" "0000247239" "00246127" "1" "00006" "00006" "2019-07-12 09:17:59" "" "" "SEQ" "DNA" "" "" "0000247240" "00246128" "1" "00006" "00006" "2019-07-12 09:17:59" "" "" "SEQ" "DNA" "" "" "0000247241" "00246129" "1" "00006" "00006" "2019-07-12 09:17:59" "" "" "SEQ" "DNA" "" "" "0000247242" "00246130" "1" "00006" "00006" "2019-07-12 09:17:59" "" "" "SEQ" "DNA" "" "" "0000271078" "00269925" "1" "01164" "01164" "2019-12-10 12:33:47" "" "" "SEQ-NG-S" "DNA" "" "" "0000291545" "00290377" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291546" "00290378" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000297643" "00296533" "1" "01164" "01164" "2020-04-08 09:43:01" "" "" "SEQ-NG-S" "DNA" "" "" "0000305430" "00304301" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000308900" "00307760" "1" "00006" "00006" "2020-08-18 13:19:45" "" "" "SEQ;SEQ-NG" "DNA" "" "565 gene panel" "0000310425" "00309280" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000310426" "00309281" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000315923" "00314750" "1" "00006" "00006" "2020-10-16 13:50:13" "" "" "SEQ" "DNA" "" "" "0000315924" "00314751" "1" "00006" "00006" "2020-10-16 13:54:05" "" "" "SEQ" "DNA" "" "" "0000333321" "00332101" "1" "00000" "00006" "2021-02-15 09:08:25" "" "" "SEQ-NG" "DNA" "" "" "0000333399" "00332179" "1" "00006" "00006" "2021-02-15 14:43:07" "" "" "SEQ" "DNA" "" "WES" "0000333623" "00332399" "1" "00000" "00006" "2021-02-18 13:23:10" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000333624" "00332400" "1" "00000" "00006" "2021-02-18 13:23:10" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000333625" "00332401" "1" "00000" "00006" "2021-02-18 13:23:10" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000333626" "00332402" "1" "00000" "00006" "2021-02-18 13:23:10" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000335154" "00333928" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" "" "0000336363" "00335134" "1" "00000" "00006" "2021-03-04 11:06:46" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000372890" "00371662" "1" "01164" "01164" "2021-05-03 17:11:49" "" "" "SEQ-NG-I" "DNA" "" "" "0000379261" "00378060" "1" "03508" "03508" "2021-08-04 07:45:46" "" "" "SEQ-NG-I" "DNA" "" "" "0000380965" "00379764" "1" "03508" "03508" "2021-08-09 06:41:57" "" "" "SEQ-NG-I" "DNA" "" "" "0000381292" "00380089" "1" "03508" "03508" "2021-08-10 08:38:47" "" "" "SEQ-NG-I" "DNA" "" "" "0000383336" "00382120" "1" "00000" "03840" "2021-09-07 10:12:12" "" "" "SEQ-NG" "DNA" "blood" "" "0000383952" "00382738" "1" "03508" "03508" "2021-09-10 06:38:33" "" "" "SEQ-NG-I" "DNA" "" "" "0000383953" "00382739" "1" "03508" "03508" "2021-09-10 06:42:11" "" "" "SEQ-NG-I" "DNA" "" "" "0000383954" "00382740" "1" "03508" "03508" "2021-09-10 06:45:25" "" "" "SEQ-NG-I" "DNA" "" "" "0000383955" "00382741" "1" "03508" "03508" "2021-09-10 06:48:17" "" "" "SEQ-NG-I" "DNA" "" "" "0000383956" "00382742" "1" "03508" "03508" "2021-09-10 06:50:03" "" "" "SEQ-NG-I" "DNA" "" "" "0000383957" "00382743" "1" "03508" "03508" "2021-09-10 06:51:55" "" "" "SEQ-NG-I" "DNA" "" "" "0000383958" "00382744" "1" "03508" "03508" "2021-09-10 06:53:48" "" "" "SEQ-NG-I" "DNA" "" "" "0000383959" "00382745" "1" "03508" "03508" "2021-09-10 06:56:38" "" "" "SEQ-NG-I" "DNA" "" "" "0000383960" "00382746" "1" "03508" "03508" "2021-09-10 06:58:20" "" "" "SEQ-NG-I" "DNA" "" "" "0000383961" "00382747" "1" "03508" "03508" "2021-09-10 07:00:13" "" "" "SEQ-NG-I" "DNA" "" "" "0000383962" "00382748" "1" "03508" "03508" "2021-09-10 07:01:53" "" "" "SEQ-NG-I" "DNA" "" "" "0000383963" "00382749" "1" "03508" "03508" "2021-09-10 09:12:03" "" "" "SEQ-NG-I" "DNA" "" "" "0000383964" "00382750" "1" "03508" "03508" "2021-09-10 09:15:21" "" "" "SEQ-NG-I" "DNA" "" "" "0000383965" "00382751" "1" "03508" "03508" "2021-09-10 09:17:44" "" "" "SEQ-NG-I" "DNA" "" "" "0000383966" "00382752" "1" "03508" "03508" "2021-09-10 09:19:55" "" "" "SEQ-NG-I" "DNA" "" "" "0000384612" "00383387" "1" "00000" "03840" "2021-09-29 09:56:40" "" "" "SEQ-NG" "DNA" "blood" "eye disease enrichment panel, see paper" "0000385460" "00384235" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes" "0000385470" "00384245" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes" "0000385516" "00384291" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes" "0000385540" "00384315" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes" "0000385563" "00384338" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes" "0000385643" "00384418" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes" "0000385653" "00384428" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes" "0000385662" "00384437" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes" "0000385711" "00384486" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes" "0000385713" "00384488" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes" "0000385732" "00384507" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes" "0000386749" "00385520" "1" "00000" "03840" "2021-10-12 17:40:23" "" "" "SEQ-NG" "DNA" "blood" "45 genes panel tested" "0000388903" "00387677" "1" "00000" "03840" "2021-10-29 23:13:01" "" "" "SEQ-NG" "DNA" "blood" "targeted sequencing" "0000391278" "00390037" "1" "00000" "03840" "2021-11-08 12:45:13" "" "" "SEQ-NG-I" "DNA" "blood" "326 selected genes from whole exome sequencing" "0000391284" "00390043" "1" "00000" "03840" "2021-11-08 12:45:13" "" "" "SEQ-NG-I" "DNA" "blood" "326 selected genes from whole exome sequencing" "0000392620" "00391378" "1" "00000" "03840" "2021-11-15 18:02:17" "" "" "SEQ-NG" "DNA" "" "retrospective case note review, targeted gene panel testing" "0000393498" "00392256" "1" "00000" "03840" "2021-11-22 09:44:22" "" "" "SEQ" "DNA" "blood" "" "0000393508" "00392266" "1" "00000" "03840" "2021-11-22 09:44:22" "" "" "SEQ" "DNA" "blood" "" "0000393514" "00392272" "1" "00000" "03840" "2021-11-22 09:44:22" "" "" "SEQ" "DNA" "blood" "" "0000402425" "00401181" "1" "00006" "00006" "2022-01-28 14:50:52" "" "" "SEQ" "DNA" "" "" "0000402426" "00401182" "1" "00006" "00006" "2022-01-28 14:50:52" "" "" "SEQ" "DNA" "" "" "0000402427" "00401183" "1" "00006" "00006" "2022-01-28 14:50:52" "" "" "SEQ" "DNA" "" "" "0000402428" "00401184" "1" "00006" "00006" "2022-01-28 14:50:52" "" "" "SEQ" "DNA" "" "" "0000402429" "00401185" "1" "00006" "00006" "2022-01-28 14:50:52" "" "" "SEQ" "DNA" "" "" "0000402430" "00401186" "1" "00006" "00006" "2022-01-28 14:50:52" "" "" "SEQ" "DNA" "" "" "0000402431" "00401187" "1" "00006" "00006" "2022-01-28 14:50:52" "" "" "SEQ" "DNA" "" "" "0000402432" "00401188" "1" "00006" "00006" "2022-01-28 14:50:52" "" "" "SEQ" "DNA" "" "" "0000402433" "00401189" "1" "00006" "00006" "2022-01-28 14:50:52" "" "" "SEQ" "DNA" "" "" "0000402434" "00401190" "1" "00006" "00006" "2022-01-28 14:50:52" "" "" "SEQ" "DNA" "" "" "0000410146" "00408881" "1" "00000" "00008" "2022-04-29 01:04:01" "" "" "DHPLC;SEQ" "DNA" "" "" "0000415625" "00414345" "1" "00000" "03840" "2022-07-28 13:16:36" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000415676" "00414396" "1" "00000" "03840" "2022-07-28 13:16:36" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000420873" "00419569" "1" "02300" "00006" "2022-10-20 16:24:48" "" "" "SEQ;SEQ-NG" "DNA" "" "clinical exome sequencing" "0000435490" "00434027" "1" "00006" "00006" "2023-03-17 16:18:55" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000435491" "00434028" "1" "00006" "00006" "2023-03-17 16:18:55" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000435506" "00434043" "1" "00006" "00006" "2023-03-17 19:03:16" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000435508" "00434045" "1" "00006" "00006" "2023-03-17 19:03:16" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000435542" "00434075" "1" "00006" "00006" "2023-03-19 16:52:56" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000435645" "00434177" "1" "00006" "00006" "2023-03-21 17:22:01" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000435646" "00434178" "1" "00006" "00006" "2023-03-21 17:22:01" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000435676" "00434208" "1" "00006" "00006" "2023-03-22 17:30:10" "" "" "SEQ" "DNA" "" "" "0000435702" "00434234" "1" "00006" "00006" "2023-03-22 17:30:10" "" "" "SEQ-NG" "DNA" "" "WGS" "0000435707" "00434239" "1" "00006" "00006" "2023-03-22 17:30:10" "" "" "SEQ-NG" "DNA" "" "WGS" "0000445871" "00444297" "1" "00006" "00006" "2023-12-21 19:04:03" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000445872" "00444298" "1" "00006" "00006" "2023-12-21 19:04:03" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000445873" "00444299" "1" "00006" "00006" "2023-12-21 19:04:03" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000445874" "00444300" "1" "00006" "00006" "2023-12-21 19:04:03" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000445875" "00444301" "1" "00006" "00006" "2023-12-21 19:04:03" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000445876" "00444302" "1" "00006" "00006" "2023-12-21 19:04:03" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000445877" "00444303" "1" "00006" "00006" "2023-12-21 19:04:03" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000445916" "00444348" "1" "00006" "00006" "2023-12-21 22:12:43" "" "" "SEQ;SEQ-NG" "DNA" "" "80 gene panel" "0000445933" "00444365" "1" "00006" "00006" "2023-12-23 15:17:22" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000446439" "00444870" "1" "00006" "00006" "2023-12-28 14:50:54" "" "" "SEQ;SEQ-NG" "DNA" "" "792 gene panel" "0000446440" "00444871" "1" "00006" "00006" "2023-12-28 14:50:54" "" "" "SEQ;SEQ-NG" "DNA" "" "792 gene panel" "0000446441" "00444872" "1" "00006" "00006" "2023-12-28 14:50:54" "" "" "SEQ;SEQ-NG" "DNA" "" "792 gene panel" "0000446462" "00444893" "1" "00006" "00006" "2023-12-28 19:27:56" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000446470" "00444901" "1" "00006" "00006" "2023-12-28 19:27:56" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000446514" "00444945" "1" "00006" "00006" "2023-12-29 13:59:22" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000446665" "00445095" "1" "00006" "00006" "2024-01-02 18:58:09" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000447992" "00446419" "1" "00006" "00006" "2024-01-17 16:49:48" "" "" "SEQ;SEQ-NG" "DNA" "" "792 gene panel" "0000447993" "00446420" "1" "00006" "00006" "2024-01-17 16:49:48" "" "" "SEQ;SEQ-NG" "DNA" "" "792 gene panel" "0000447998" "00446425" "1" "00006" "00006" "2024-01-17 16:49:48" "" "" "SEQ;SEQ-NG" "DNA" "" "792 gene panel" "0000447999" "00446426" "1" "00006" "00006" "2024-01-17 16:49:48" "" "" "SEQ;SEQ-NG" "DNA" "" "792 gene panel" "0000448000" "00446427" "1" "00006" "00006" "2024-01-17 16:49:48" "" "" "SEQ;SEQ-NG" "DNA" "" "792 gene panel" "0000448001" "00446428" "1" "00006" "00006" "2024-01-17 16:49:48" "" "" "SEQ;SEQ-NG" "DNA" "" "792 gene panel" "0000448015" "00446442" "1" "00006" "00006" "2024-01-17 16:49:48" "" "" "SEQ;SEQ-NG" "DNA" "" "792 gene panel" "0000448016" "00446443" "1" "00006" "00006" "2024-01-17 16:49:48" "" "" "SEQ;SEQ-NG" "DNA" "" "792 gene panel" "0000448050" "00446477" "1" "00006" "00006" "2024-01-17 16:49:48" "" "" "SEQ;SEQ-NG" "DNA" "" "792 gene panel" "0000448051" "00446478" "1" "00006" "00006" "2024-01-17 16:49:48" "" "" "SEQ;SEQ-NG" "DNA" "" "792 gene panel" "0000448058" "00446485" "1" "00006" "00006" "2024-01-17 16:49:48" "" "" "SEQ;SEQ-NG" "DNA" "" "792 gene panel" "0000448059" "00446486" "1" "00006" "00006" "2024-01-17 16:49:48" "" "" "SEQ;SEQ-NG" "DNA" "" "792 gene panel" "0000448062" "00446489" "1" "00006" "00006" "2024-01-17 16:49:48" "" "" "SEQ;SEQ-NG" "DNA" "" "792 gene panel" "0000448066" "00446493" "1" "00006" "00006" "2024-01-17 16:49:48" "" "" "SEQ;SEQ-NG" "DNA" "" "792 gene panel" "0000448077" "00446504" "1" "00006" "00006" "2024-01-17 16:49:48" "" "" "SEQ;SEQ-NG" "DNA" "" "792 gene panel" "0000448078" "00446505" "1" "00006" "00006" "2024-01-17 16:49:48" "" "" "SEQ;SEQ-NG" "DNA" "" "792 gene panel" "0000448093" "00446520" "1" "00006" "00006" "2024-01-17 16:49:48" "" "" "SEQ;SEQ-NG" "DNA" "" "792 gene panel" "0000448094" "00446521" "1" "00006" "00006" "2024-01-17 16:49:48" "" "" "SEQ;SEQ-NG" "DNA" "" "792 gene panel" "0000448114" "00446541" "1" "00006" "00006" "2024-01-17 16:49:48" "" "" "SEQ;SEQ-NG" "DNA" "" "792 gene panel" "0000448115" "00446542" "1" "00006" "00006" "2024-01-17 16:49:48" "" "" "SEQ;SEQ-NG" "DNA" "" "792 gene panel" "0000452007" "00450410" "1" "00006" "00006" "2024-05-26 14:07:33" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000452008" "00450411" "1" "00006" "00006" "2024-05-26 14:07:33" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000452009" "00450412" "1" "00006" "00006" "2024-05-26 14:07:33" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000452010" "00450413" "1" "00006" "00006" "2024-05-26 14:07:33" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000452011" "00450414" "1" "00006" "00006" "2024-05-26 14:07:33" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000452012" "00450415" "1" "00006" "00006" "2024-05-26 14:07:33" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000452013" "00450416" "1" "00006" "00006" "2024-05-26 14:07:33" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000452014" "00450417" "1" "00006" "00006" "2024-05-26 14:07:33" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000452015" "00450418" "1" "00006" "00006" "2024-05-26 14:07:33" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000452016" "00450419" "1" "00006" "00006" "2024-05-26 14:07:33" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000452017" "00450420" "1" "00006" "00006" "2024-05-26 14:07:33" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000452018" "00450421" "1" "00006" "00006" "2024-05-26 14:07:33" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000452019" "00450422" "1" "00006" "00006" "2024-05-26 14:07:33" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000452020" "00450423" "1" "00006" "00006" "2024-05-26 14:07:33" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000452021" "00450424" "1" "00006" "00006" "2024-05-26 14:07:33" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000452022" "00450425" "1" "00006" "00006" "2024-05-26 14:07:33" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000452023" "00450426" "1" "00006" "00006" "2024-05-26 14:07:33" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000452024" "00450427" "1" "00006" "00006" "2024-05-26 14:07:33" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000452025" "00450428" "1" "00006" "00006" "2024-05-26 14:07:33" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000452029" "00450432" "1" "00006" "00006" "2024-05-26 14:07:33" "" "" "PCR" "DNA" "" "" "0000468356" "00466692" "1" "00006" "00006" "2025-09-23 14:50:33" "" "" "SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 54 "{{screeningid}}" "{{geneid}}" "0000036520" "PAX6" "0000036521" "PAX6" "0000036522" "PAX6" "0000036523" "PAX6" "0000036524" "PAX6" "0000036525" "PAX6" "0000036526" "PAX6" "0000036527" "PAX6" "0000037619" "PAX6" "0000081038" "PAX6" "0000147982" "PAX6" "0000247239" "PAX6" "0000247240" "PAX6" "0000247241" "PAX6" "0000247242" "PAX6" "0000308900" "PAX6" "0000310425" "PAX6" "0000310426" "PAX6" "0000315923" "PAX6" "0000315924" "PAX6" "0000333321" "PAX6" "0000333623" "PAX6" "0000333624" "PAX6" "0000333625" "PAX6" "0000333626" "PAX6" "0000335154" "PAX6" "0000336363" "PAX6" "0000372890" "PAX6" "0000383336" "PAX6" "0000384612" "PAX6" "0000385460" "PAX6" "0000385470" "PAX6" "0000385516" "PAX6" "0000385540" "PAX6" "0000385563" "PAX6" "0000385643" "PAX6" "0000385653" "PAX6" "0000385662" "PAX6" "0000385711" "PAX6" "0000385713" "PAX6" "0000385732" "PAX6" "0000386749" "PAX6" "0000388903" "PAX6" "0000391278" "PAX6" "0000391284" "PAX6" "0000392620" "PAX6" "0000393498" "PAX6" "0000393508" "PAX6" "0000393514" "PAX6" "0000410146" "NF1" "0000410146" "OTX2" "0000410146" "PAX6" "0000415625" "PAX6" "0000415676" "PAX6" ## 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 = 299 "{{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}}" "0000063645" "1" "99" "11" "31811484" "31811484" "dup" "0" "01164" "PAX6_000181" "g.31811484dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.31789936dup" "" "pathogenic" "" "0000063646" "1" "99" "11" "31816199" "31816199" "subst" "0" "01164" "PAX6_000348" "g.31816199G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.31794651G>A" "" "pathogenic" "" "0000063647" "1" "99" "11" "31824360" "31824360" "del" "0" "01164" "PAX6_000100" "g.31824360del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.31802812del" "" "pathogenic" "" "0000063648" "1" "11" "11" "31812215" "31812215" "subst" "0.480127" "01164" "PAX6_000574" "g.31812215A>C" "" "" "" "" "" "Germline" "" "rs3026393" "0" "" "" "g.31790667A>C" "" "benign" "" "0000063649" "1" "99" "11" "31824341" "31824341" "subst" "0" "01164" "PAX6_000308" "g.31824341C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.31802793C>T" "" "pathogenic" "" "0000063650" "1" "13" "11" "31815362" "31815362" "subst" "0.0843132" "01164" "PAX6_000335" "g.31815362G>A" "" "" "" "" "" "Germline" "" "rs667773" "0" "" "" "g.31793814G>A" "" "benign" "" "0000063651" "1" "50" "11" "31823413" "31823413" "subst" "0" "01164" "PAX6_000702" "g.31823413G>A" "" "" "" "" "suspected PAX6-Mutation" "Germline" "" "" "0" "" "" "g.31801865G>A" "" "VUS" "" "0000063652" "1" "90" "11" "31823303" "31823303" "subst" "0" "01164" "PAX6_000701" "g.31823303T>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.31801755T>A" "" "pathogenic" "" "0000064767" "21" "70" "11" "31815349" "31815349" "subst" "0" "01239" "PAX6_000700" "g.31815349A>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.31793801A>G" "" "likely pathogenic" "" "0000130124" "0" "90" "11" "31823312" "31823312" "subst" "0" "01758" "PAX6_000703" "g.31823312A>G" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "De novo" "" "" "0" "" "" "g.31801764A>G" "" "pathogenic" "ACMG" "0000242773" "0" "90" "11" "31824374" "31824374" "subst" "0" "02357" "PAX6_000704" "g.31824374C>A" "" "{PMID:Han 2018:30631761}" "" "" "" "De novo" "" "" "0" "" "" "g.31802826C>A" "" "pathogenic" "" "0000246997" "0" "30" "11" "31815075" "31815075" "subst" "0.000158396" "02330" "PAX6_000720" "g.31815075A>G" "" "" "" "PAX6(NM_000280.4):c.943T>C (p.(Leu315=)), PAX6(NM_001310160.2):c.535T>C (p.L179=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31793527A>G" "" "likely benign" "" "0000253155" "0" "10" "11" "31811484" "31811484" "subst" "0.0174524" "01943" "PAX6_000707" "g.31811484A>T" "" "" "" "PAX6(NM_000280.3):c.1267T>A (p.*423Kext*14), PAX6(NM_000280.4):c.1267T>A (p.(Ter423LysextTer14)), PAX6(NM_001310160.1):c.859T>A (p.*287Kext*14)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31789936A>T" "" "benign" "" "0000276107" "0" "30" "11" "31805038" "31805038" "subst" "0.00084524" "01943" "ELP4_000008" "g.31805038T>C" "" "" "" "ELP4(NM_019040.4):c.1241T>C (p.M414T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31783490T>C" "" "likely benign" "" "0000296775" "0" "10" "11" "31815362" "31815362" "subst" "0.0843132" "02325" "PAX6_000335" "g.31815362G>A" "" "" "" "PAX6(NM_000280.3):c.766-12C>T, PAX6(NM_000280.6):c.766-12C>T, PAX6(NM_001604.5):c.808-12C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31793814G>A" "" "benign" "" "0000298802" "0" "10" "11" "31815362" "31815362" "subst" "0.0843132" "02329" "PAX6_000335" "g.31815362G>A" "" "" "" "PAX6(NM_000280.3):c.766-12C>T, PAX6(NM_000280.6):c.766-12C>T, PAX6(NM_001604.5):c.808-12C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31793814G>A" "" "benign" "" "0000300617" "0" "10" "11" "31823139" "31823139" "subst" "0.00243237" "02326" "PAX6_000726" "g.31823139C>T" "" "" "" "PAX6(NM_000280.3):c.327G>A (p.E109=), PAX6(NM_000280.4):c.327G>A (p.(Glu109=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31801591C>T" "" "benign" "" "0000305050" "0" "30" "11" "31827942" "31827942" "subst" "0" "01943" "PAX6_000727" "g.31827942G>A" "" "" "" "PAX6(NM_000280.3):c.10+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31806394G>A" "" "likely benign" "" "0000305051" "0" "50" "11" "31815041" "31815041" "subst" "0" "01943" "PAX6_000714" "g.31815041T>C" "" "" "" "PAX6(NM_001604.5):c.1019A>G (p.Y340C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31793493T>C" "" "VUS" "" "0000305052" "0" "30" "11" "31812304" "31812304" "subst" "0.000361436" "01943" "PAX6_000711" "g.31812304T>G" "" "" "" "PAX6(NM_000280.4):c.1137A>C (p.(Thr379=)), PAX6(NM_001604.5):c.1179A>C (p.T393=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31790756T>G" "" "likely benign" "" "0000305053" "0" "50" "11" "31814816" "31814816" "subst" "0" "01943" "PAX6_000712" "g.31814816T>A" "" "" "" "PAX6(NM_001310159.1):c.1202A>T (p.D401V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31793268T>A" "" "VUS" "" "0000305054" "0" "50" "11" "31811511" "31811511" "subst" "8.22463E-6" "01943" "PAX6_000710" "g.31811511T>C" "" "" "" "PAX6(NM_000280.3):c.1240A>G (p.M414V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31789963T>C" "" "VUS" "" "0000305055" "0" "70" "11" "31823113" "31823113" "subst" "0" "01943" "PAX6_000725" "g.31823113G>T" "" "" "" "PAX6(NM_001310158.1):c.395C>A (p.P132Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31801565G>T" "" "likely pathogenic" "" "0000305056" "0" "30" "11" "31816332" "31816332" "subst" "0" "01943" "PAX6_000724" "g.31816332G>C" "" "" "" "PAX6(NM_000280.3):c.528C>G (p.G176=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31794784G>C" "" "likely benign" "" "0000305057" "0" "10" "11" "31815362" "31815362" "subst" "0.0843132" "01943" "PAX6_000335" "g.31815362G>A" "" "" "" "PAX6(NM_000280.3):c.766-12C>T, PAX6(NM_000280.6):c.766-12C>T, PAX6(NM_001604.5):c.808-12C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31793814G>A" "" "benign" "" "0000305058" "0" "10" "11" "31811487" "31811487" "subst" "0" "01943" "PAX6_000709" "g.31811487G>T" "" "" "" "PAX6(NM_000280.4):c.1264C>A (p.(Gln422Lys)), PAX6(NM_001310160.1):c.856C>A (p.Q286K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31789939G>T" "" "benign" "" "0000305059" "0" "10" "11" "31811485" "31811485" "subst" "0.012698" "01943" "PAX6_000708" "g.31811485C>T" "" "" "" "PAX6(NM_000280.4):c.1266G>A (p.(Gln422=)), PAX6(NM_001310160.1):c.858G>A (p.Q286=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31789937C>T" "" "benign" "" "0000305060" "0" "30" "11" "31815196" "31815196" "subst" "2.43633E-5" "01943" "PAX6_000722" "g.31815196T>A" "" "" "" "PAX6(NM_000280.3):c.916+4A>T, PAX6(NM_000280.4):c.916+4A>T (p.?), PAX6(NM_001310160.1):c.508+4A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31793648T>A" "" "likely benign" "" "0000322184" "0" "30" "11" "31804960" "31804960" "subst" "4.06659E-6" "01804" "ELP4_000007" "g.31804960A>T" "" "" "" "ELP4(NM_019040.3):c.1163A>T (p.(Asp388Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31783412A>T" "" "likely benign" "" "0000322185" "0" "50" "11" "31815039" "31815039" "subst" "0" "01804" "PAX6_000713" "g.31815039T>C" "" "" "" "PAX6(NM_000280.4):c.979A>G (p.(Ser327Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31793491T>C" "" "VUS" "" "0000322186" "0" "30" "11" "31815108" "31815108" "subst" "0.000142139" "01804" "PAX6_000745" "g.31815108G>A" "" "" "" "PAX6(NM_000280.4):c.917-7C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31793560G>A" "" "likely benign" "" "0000322187" "0" "50" "11" "31815633" "31815633" "subst" "0" "01804" "PAX6_000748" "g.31815633A>G" "" "" "" "PAX6(NM_001368894.2):c.754T>C (p.(Phe252Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31794085A>G" "" "VUS" "" "0000322188" "0" "30" "11" "31822411" "31822411" "subst" "4.0622E-6" "01804" "PAX6_000754" "g.31822411A>G" "" "" "" "PAX6(NM_000280.4):c.358-7T>C (p.(=)), PAX6(NM_001310160.1):c.-51-7T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31800863A>G" "" "likely benign" "" "0000341918" "0" "50" "11" "31822379" "31822379" "subst" "0" "02327" "PAX6_000718" "g.31822379C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31800831C>T" "" "VUS" "" "0000342652" "0" "90" "11" "31815069" "31815069" "subst" "0" "02327" "PAX6_000716" "g.31815069G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31793521G>A" "" "pathogenic" "" "0000345279" "0" "90" "11" "31816181" "31816181" "del" "0" "02327" "PAX6_000717" "g.31816181del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31794633del" "" "pathogenic" "" "0000346210" "0" "90" "11" "31823315" "31823315" "subst" "0" "02327" "PAX6_000719" "g.31823315C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31801767C>T" "" "pathogenic" "" "0000349459" "0" "90" "11" "31815045" "31815045" "del" "0" "02327" "PAX6_000715" "g.31815045del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31793497del" "" "pathogenic" "" "0000438404" "0" "90" "11" "31824283" "31824283" "del" "0" "01244" "PAX6_000728" "g.31824283del" "" "" "" "112delC" "" "Germline" "" "" "0" "" "" "g.31802735del" "" "pathogenic" "" "0000500085" "0" "90" "16" "31823191" "31823191" "subst" "0" "00006" "PAX6_000729" "g.31823191C>T" "" "{PMID:Xiao 2019:31161946}" "" "G275A" "Variant Error [EREF/0]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message." "Germline" "yes" "" "0" "" "" "g.31801643C>T" "" "pathogenic (dominant)" "" "0000500086" "11" "90" "16" "31823191" "31823191" "subst" "0" "00006" "PAX6_000729" "g.31823191C>T" "" "{PMID:Xiao 2019:31161946}" "" "G275A" "Variant Error [EREF/0]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message." "Germline" "yes" "" "0" "" "" "g.31801643C>T" "" "pathogenic (dominant)" "" "0000500087" "11" "90" "16" "31823191" "31823191" "subst" "0" "00006" "PAX6_000729" "g.31823191C>T" "" "{PMID:Xiao 2019:31161946}" "" "G275A" "Variant Error [EREF/0]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message." "Germline" "yes" "" "0" "" "" "g.31801643C>T" "" "pathogenic (dominant)" "" "0000500088" "21" "90" "16" "31823191" "31823191" "subst" "0" "00006" "PAX6_000729" "g.31823191C>T" "" "{PMID:Xiao 2019:31161946}" "" "G275A" "Variant Error [EREF/0]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message." "Germline" "yes" "" "0" "" "" "g.31801643C>T" "" "pathogenic (dominant)" "" "0000543755" "0" "10" "11" "31804978" "31804978" "subst" "0.00573526" "01943" "ELP4_000014" "g.31804978G>C" "" "" "" "ELP4(NM_001288725.1):c.1323G>C (p.E441D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31783430G>C" "" "benign" "" "0000543756" "0" "10" "11" "31811480" "31811483" "del" "0" "02330" "PAX6_000730" "g.31811480_31811483del" "" "" "" "ELP4(NM_001288726.2):c.*6503_*6506delTTTT, PAX6(NM_001368929.2):c.728_731delAAAA (p.K243Rfs*29)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31789932_31789935del" "" "benign" "" "0000543757" "0" "10" "11" "31811481" "31811483" "del" "0" "02330" "PAX6_000731" "g.31811481_31811483del" "" "" "" "ELP4(NM_001288726.2):c.*6504_*6506delTTT, PAX6(NM_001368929.2):c.729_731delAAA (p.K244del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31789933_31789935del" "" "benign" "" "0000543758" "0" "10" "11" "31811482" "31811483" "del" "0" "02330" "PAX6_000732" "g.31811482_31811483del" "" "" "" "ELP4(NM_001288726.2):c.*6505_*6506delTT, PAX6(NM_000280.3):c.*20_*21delAA, PAX6(NM_001368929.1):c.730_731delAA (p.K244Gfs*7), PAX6(NM_001368929.2):..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31789934_31789935del" "" "benign" "" "0000543759" "0" "10" "11" "31811483" "31811483" "del" "0" "02330" "PAX6_000733" "g.31811483del" "" "" "" "ELP4(NM_001288726.2):c.*6506delT, PAX6(NM_000280.3):c.*21delA, PAX6(NM_001368929.1):c.731delA (p.K244Rfs*29), PAX6(NM_001368929.2):c.731delA (p.K2...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31789935del" "" "benign" "" "0000543760" "0" "30" "11" "31811484" "31811484" "subst" "0.0174524" "01804" "PAX6_000707" "g.31811484A>T" "" "" "" "PAX6(NM_000280.3):c.1267T>A (p.*423Kext*14), PAX6(NM_000280.4):c.1267T>A (p.(Ter423LysextTer14)), PAX6(NM_001310160.1):c.859T>A (p.*287Kext*14)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31789936A>T" "" "likely benign" "" "0000543764" "0" "30" "11" "31811485" "31811485" "subst" "0.012698" "01804" "PAX6_000708" "g.31811485C>T" "" "" "" "PAX6(NM_000280.4):c.1266G>A (p.(Gln422=)), PAX6(NM_001310160.1):c.858G>A (p.Q286=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31789937C>T" "" "likely benign" "" "0000543766" "0" "30" "11" "31811487" "31811487" "subst" "0" "01804" "PAX6_000709" "g.31811487G>T" "" "" "" "PAX6(NM_000280.4):c.1264C>A (p.(Gln422Lys)), PAX6(NM_001310160.1):c.856C>A (p.Q286K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31789939G>T" "" "likely benign" "" "0000543767" "0" "10" "11" "31811490" "31811490" "subst" "0" "01804" "PAX6_000738" "g.31811490A>T" "" "" "" "PAX6(NM_000280.4):c.1261T>A (p.(Leu421Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31789942A>T" "" "benign" "" "0000543768" "0" "30" "11" "31811492" "31811492" "subst" "0" "01943" "PAX6_000739" "g.31811492C>T" "" "" "" "PAX6(NM_001310160.1):c.851G>A (p.R284K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31789944C>T" "" "likely benign" "" "0000543770" "0" "30" "11" "31812304" "31812304" "subst" "0.000361436" "01804" "PAX6_000711" "g.31812304T>G" "" "" "" "PAX6(NM_000280.4):c.1137A>C (p.(Thr379=)), PAX6(NM_001604.5):c.1179A>C (p.T393=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31790756T>G" "" "likely benign" "" "0000543772" "0" "10" "11" "31814879" "31814879" "subst" "0" "02330" "PAX6_000742" "g.31814879G>A" "" "" "" "PAX6(NM_000280.3):c.1032+107C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31793331G>A" "" "benign" "" "0000543773" "0" "50" "11" "31814885" "31814885" "subst" "0" "01943" "PAX6_000743" "g.31814885C>T" "" "" "" "PAX6(NM_001310159.1):c.1133G>A (p.S378N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31793337C>T" "" "VUS" "" "0000543774" "0" "30" "11" "31815037" "31815037" "subst" "4.46777E-5" "01804" "PAX6_000744" "g.31815037G>A" "" "" "" "PAX6(NM_000280.4):c.981C>T (p.(Ser327=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31793489G>A" "" "likely benign" "" "0000543775" "0" "30" "11" "31815075" "31815075" "subst" "0.000158396" "01804" "PAX6_000720" "g.31815075A>G" "" "" "" "PAX6(NM_000280.4):c.943T>C (p.(Leu315=)), PAX6(NM_001310160.2):c.535T>C (p.L179=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31793527A>G" "" "likely benign" "" "0000543777" "0" "50" "11" "31815196" "31815196" "subst" "2.43633E-5" "01804" "PAX6_000722" "g.31815196T>A" "" "" "" "PAX6(NM_000280.3):c.916+4A>T, PAX6(NM_000280.4):c.916+4A>T (p.?), PAX6(NM_001310160.1):c.508+4A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31793648T>A" "" "VUS" "" "0000543779" "0" "30" "11" "31815285" "31815285" "subst" "0.0012466" "01943" "PAX6_000747" "g.31815285C>T" "" "" "" "PAX6(NM_000280.4):c.831G>A (p.(Gln277=)), PAX6(NM_001604.5):c.873G>A (p.Q291=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31793737C>T" "" "likely benign" "" "0000543780" "0" "30" "11" "31815285" "31815285" "subst" "0.0012466" "01804" "PAX6_000747" "g.31815285C>T" "" "" "" "PAX6(NM_000280.4):c.831G>A (p.(Gln277=)), PAX6(NM_001604.5):c.873G>A (p.Q291=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31793737C>T" "" "likely benign" "" "0000543781" "0" "10" "11" "31815362" "31815362" "subst" "0.0843132" "02330" "PAX6_000335" "g.31815362G>A" "" "" "" "PAX6(NM_000280.3):c.766-12C>T, PAX6(NM_000280.6):c.766-12C>T, PAX6(NM_001604.5):c.808-12C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31793814G>A" "" "benign" "" "0000543782" "0" "10" "11" "31815362" "31815362" "subst" "0.0843132" "02326" "PAX6_000335" "g.31815362G>A" "" "" "" "PAX6(NM_000280.3):c.766-12C>T, PAX6(NM_000280.6):c.766-12C>T, PAX6(NM_001604.5):c.808-12C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31793814G>A" "" "benign" "" "0000543783" "0" "30" "11" "31815619" "31815619" "subst" "4.06065E-6" "01804" "PAX6_000723" "g.31815619T>C" "" "" "" "PAX6(NM_000280.4):c.726A>G (p.(Arg242=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31794071T>C" "" "likely benign" "" "0000543784" "0" "30" "11" "31815634" "31815634" "subst" "0.000458853" "01943" "PAX6_000749" "g.31815634C>T" "" "" "" "PAX6(NM_000280.4):c.711G>A (p.(Val237=)), PAX6(NM_001310160.1):c.303G>A (p.V101=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31794086C>T" "" "likely benign" "" "0000543785" "0" "30" "11" "31815634" "31815634" "subst" "0.000458853" "01804" "PAX6_000749" "g.31815634C>T" "" "" "" "PAX6(NM_000280.4):c.711G>A (p.(Val237=)), PAX6(NM_001310160.1):c.303G>A (p.V101=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31794086C>T" "" "likely benign" "" "0000543786" "0" "30" "11" "31816339" "31816339" "subst" "2.439E-5" "01804" "PAX6_000750" "g.31816339G>A" "" "" "" "PAX6(NM_000280.4):c.524-3C>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31794791G>A" "" "likely benign" "" "0000543787" "0" "30" "11" "31822311" "31822311" "subst" "0" "01943" "PAX6_000751" "g.31822311C>G" "" "" "" "PAX6(NM_001310160.1):c.43G>C (p.G15R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31800763C>G" "" "likely benign" "" "0000543788" "0" "50" "11" "31822311" "31822311" "subst" "0" "01943" "PAX6_000752" "g.31822311C>T" "" "" "" "PAX6(NM_001310160.1):c.43G>A (p.G15R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31800763C>T" "" "VUS" "" "0000543789" "0" "30" "11" "31822369" "31822369" "subst" "8.12143E-6" "01943" "PAX6_000753" "g.31822369A>G" "" "" "" "PAX6(NM_001368910.2):c.636T>C (p.A212=), PAX6(NM_001604.5):c.435T>C (p.A145=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31800821A>G" "" "likely benign" "" "0000543790" "0" "30" "11" "31822411" "31822411" "subst" "4.0622E-6" "01943" "PAX6_000754" "g.31822411A>G" "" "" "" "PAX6(NM_000280.4):c.358-7T>C (p.(=)), PAX6(NM_001310160.1):c.-51-7T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31800863A>G" "" "likely benign" "" "0000543791" "0" "30" "11" "31822422" "31822432" "del" "0" "02330" "PAX6_000755" "g.31822422_31822432del" "" "" "" "PAX6(NM_000280.3):c.358-15_358-5delTGGTTTGATTT, PAX6(NM_000280.4):c.358-15_358-5del (p.?), PAX6(NM_001604.5):c.400-15_400-5delTGGTTTGATTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31800874_31800884del" "" "likely benign" "" "0000543792" "0" "10" "11" "31822422" "31822432" "del" "0" "01943" "PAX6_000755" "g.31822422_31822432del" "" "" "" "PAX6(NM_000280.3):c.358-15_358-5delTGGTTTGATTT, PAX6(NM_000280.4):c.358-15_358-5del (p.?), PAX6(NM_001604.5):c.400-15_400-5delTGGTTTGATTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31800874_31800884del" "" "benign" "" "0000543793" "0" "30" "11" "31822422" "31822432" "del" "0" "01804" "PAX6_000755" "g.31822422_31822432del" "" "" "" "PAX6(NM_000280.3):c.358-15_358-5delTGGTTTGATTT, PAX6(NM_000280.4):c.358-15_358-5del (p.?), PAX6(NM_001604.5):c.400-15_400-5delTGGTTTGATTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31800874_31800884del" "" "likely benign" "" "0000543795" "0" "90" "11" "31823109" "31823109" "subst" "0" "01804" "PAX6_000757" "g.31823109G>T" "" "" "" "PAX6(NM_000280.4):c.357C>A (p.(Ser119Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31801561G>T" "" "pathogenic" "" "0000543796" "0" "10" "11" "31823139" "31823139" "subst" "0.00243237" "02330" "PAX6_000726" "g.31823139C>T" "" "" "" "PAX6(NM_000280.3):c.327G>A (p.E109=), PAX6(NM_000280.4):c.327G>A (p.(Glu109=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31801591C>T" "" "benign" "" "0000543797" "0" "30" "11" "31823139" "31823139" "subst" "0.00243237" "01804" "PAX6_000726" "g.31823139C>T" "" "" "" "PAX6(NM_000280.3):c.327G>A (p.E109=), PAX6(NM_000280.4):c.327G>A (p.(Glu109=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31801591C>T" "" "likely benign" "" "0000543798" "0" "50" "11" "31823182" "31823182" "subst" "4.06062E-6" "02325" "PAX6_000759" "g.31823182G>A" "" "" "" "PAX6(NM_000280.6):c.284C>T (p.P95L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31801634G>A" "" "VUS" "" "0000543800" "0" "30" "11" "31823211" "31823211" "subst" "0" "01943" "PAX6_000761" "g.31823211G>A" "" "" "" "PAX6(NM_001310158.1):c.297C>T (p.S99=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31801663G>A" "" "likely benign" "" "0000543801" "0" "90" "11" "31823252" "31823252" "subst" "0" "02327" "PAX6_000762" "g.31823252C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31801704C>T" "" "pathogenic" "" "0000543802" "0" "30" "11" "31824263" "31824263" "subst" "0.000448117" "01943" "PAX6_000763" "g.31824263G>T" "" "" "" "PAX6(NM_000280.4):c.130C>A (p.(Arg44=)), PAX6(NM_001310158.1):c.130C>A (p.R44=), PAX6(NM_001368910.2):c.373C>A (p.R125=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31802715G>T" "" "likely benign" "" "0000543803" "0" "30" "11" "31824303" "31824303" "subst" "2.44149E-5" "01804" "PAX6_000764" "g.31824303T>C" "" "" "" "PAX6(NM_000280.4):c.90A>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31802755T>C" "" "likely benign" "" "0000543804" "0" "30" "11" "31824321" "31824321" "subst" "2.84842E-5" "01943" "PAX6_000765" "g.31824321G>A" "" "" "" "PAX6(NM_001310158.1):c.72C>T (p.S24=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31802773G>A" "" "likely benign" "" "0000613323" "0" "50" "11" "31815202" "31815202" "subst" "1.62422E-5" "01943" "PAX6_000767" "g.31815202G>A" "" "" "" "PAX6(NM_001604.5):c.956C>T (p.P319L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31793654G>A" "" "VUS" "" "0000622622" "0" "30" "11" "31823265" "31823265" "subst" "7.71505E-5" "01943" "PAX6_000768" "g.31823265T>C" "" "" "" "PAX6(NM_001604.5):c.243A>G (p.R81=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31801717T>C" "" "likely benign" "" "0000622623" "0" "10" "11" "31824263" "31824263" "subst" "0.000448117" "02330" "PAX6_000763" "g.31824263G>T" "" "" "" "PAX6(NM_000280.4):c.130C>A (p.(Arg44=)), PAX6(NM_001310158.1):c.130C>A (p.R44=), PAX6(NM_001368910.2):c.373C>A (p.R125=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31802715G>T" "" "benign" "" "0000622624" "0" "50" "11" "31824341" "31824341" "subst" "0" "01943" "PAX6_000769" "g.31824341C>G" "" "" "" "PAX6(NM_001310158.1):c.52G>C (p.G18R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31802793C>G" "" "VUS" "" "0000624932" "0" "70" "11" "31824338" "31824338" "subst" "0" "01164" "PAX6_000770" "g.31824338G>A" "" "" "" "" "ACMG: PM2,PM5,PP1,PP3; Vincent et al. 2003. Eur J Hum Genet 11: 163" "Germline" "" "" "0" "" "" "g.31802790G>A" "" "likely pathogenic" "ACMG" "0000648234" "1" "90" "11" "31823108" "31823108" "subst" "0" "03575" "PAX6_000771" "g.31823108C>T" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs398123295}" "Germline" "" "rs398123295" "0" "" "" "g.31801560C>T" "" "pathogenic" "" "0000648235" "1" "30" "11" "31832367" "31832367" "subst" "0" "03575" "PAX6_000772" "g.31832367C>T" "57/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "57 heterozygous; {DB:CLININrs56139994}" "Germline" "" "rs56139994" "0" "" "" "g.31810819C>T" "" "likely benign" "" "0000656776" "0" "10" "11" "31811479" "31811483" "del" "0" "02330" "PAX6_000773" "g.31811479_31811483del" "" "" "" "ELP4(NM_001288726.2):c.*6502_*6506delTTTTT, PAX6(NM_001368929.2):c.727_731delAAAAA (p.K243Gfs*7)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31789931_31789935del" "" "benign" "" "0000656777" "0" "50" "11" "31812275" "31812275" "subst" "4.06243E-6" "01943" "PAX6_000774" "g.31812275G>A" "" "" "" "PAX6(NM_001310160.1):c.758C>T (p.S253L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31790727G>A" "" "VUS" "" "0000656778" "0" "50" "11" "31814883" "31814883" "del" "0" "01943" "PAX6_000775" "g.31814883del" "" "" "" "PAX6(NM_001310159.1):c.1138delT (p.S380Rfs*20)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31793335del" "" "VUS" "" "0000660249" "0" "90" "11" "31823159" "31823159" "subst" "0" "01164" "PAX6_000776" "g.31823159G>A" "" "" "" "" "ACMG grading: PVS1,PM2,PP5; Glaser et al. 1994. NatGenet 7: 463" "Germline" "" "rs121907914" "0" "" "" "g.31801611G>A" "" "pathogenic" "ACMG" "0000669118" "3" "30" "11" "31832367" "31832367" "subst" "0" "03575" "PAX6_000772" "g.31832367C>T" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs56139994}" "Germline" "" "rs56139994" "0" "" "" "g.31810819C>T" "" "likely benign" "" "0000679171" "0" "90" "11" "31812410" "31812410" "subst" "0" "02327" "PAX6_000777" "g.31812410T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000679172" "0" "50" "11" "31815068" "31815068" "subst" "4.06171E-6" "02330" "PAX6_000778" "g.31815068C>T" "" "" "" "PAX6(NM_001310160.2):c.542G>A (p.R181Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000679173" "0" "30" "11" "31815575" "31815575" "subst" "0.00011776" "02325" "PAX6_000779" "g.31815575G>A" "" "" "" "PAX6(NM_000280.4):c.765+5C>T (p.?), PAX6(NM_001310160.2):c.357+5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000679174" "0" "30" "11" "31823423" "31823423" "subst" "2.03085E-5" "01943" "PAX6_000780" "g.31823423T>C" "" "" "" "PAX6(NM_001310158.1):c.179A>G (p.Q60R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000683334" "0" "70" "11" "31815627" "31815627" "subst" "0" "00006" "PAX6_000781" "g.31815627G>A" "" "{PMID:Grozeva 2015:26350204}, {DOI:Grozeva 2015:10.1002/humu.22901}" "" "" "" "Germline/De novo (untested)" "" "rs121907917" "0" "" "" "g.31794079G>A" "" "likely pathogenic (dominant)" "" "0000685336" "0" "90" "11" "31812257" "31812257" "subst" "0" "00004" "PAX6_000782" "g.31812257C>T" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000685337" "0" "90" "11" "31827949" "31827949" "subst" "0" "00004" "PAX6_000783" "g.31827949C>G" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000691049" "0" "90" "11" "31828396" "31828396" "subst" "0" "02327" "PAX6_000784" "g.31828396C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000698030" "11" "90" "11" "31823252" "31823252" "subst" "0" "00006" "PAX6_000785" "g.31823252C>G" "" "{PMID:Lima Cunha 2020:33024313}" "" "" "somatic mosaicism in father" "Germline" "" "" "0" "" "" "g.31801704C>G" "" "pathogenic (dominant)" "" "0000698031" "11" "90" "11" "31824281" "31824281" "subst" "0" "00006" "PAX6_000786" "g.31824281G>C" "" "{PMID:Lima Cunha 2020:33024313}" "" "" "somatic mosaicism in father" "Germline" "yes" "" "0" "" "" "g.31802733G>C" "" "pathogenic (dominant)" "" "0000723412" "0" "30" "11" "31811484" "31811484" "subst" "0.0174524" "02330" "PAX6_000707" "g.31811484A>T" "" "" "" "PAX6(NM_000280.3):c.1267T>A (p.*423Kext*14), PAX6(NM_000280.4):c.1267T>A (p.(Ter423LysextTer14)), PAX6(NM_001310160.1):c.859T>A (p.*287Kext*14)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000723413" "0" "10" "11" "31811484" "31811485" "ins" "0" "02330" "PAX6_000735" "g.31811484_31811485insTTT" "" "" "" "PAX6(NM_000280.3):c.1266_1267insAAA (p.*423Kext*1)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000723414" "0" "10" "11" "31811484" "31811485" "ins" "0" "02330" "PAX6_000736" "g.31811484_31811485insTTTTTT" "" "" "" "PAX6(NM_000280.3):c.1266_1267insAAAAAA (p.*423Kext*2)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000723415" "0" "30" "11" "31814978" "31814978" "subst" "1.62484E-5" "01943" "PAX6_000787" "g.31814978G>A" "" "" "" "PAX6(NM_001310159.1):c.1040C>T (p.A347V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000723416" "0" "50" "11" "31815196" "31815196" "subst" "2.43633E-5" "02329" "PAX6_000722" "g.31815196T>A" "" "" "" "PAX6(NM_000280.3):c.916+4A>T, PAX6(NM_000280.4):c.916+4A>T (p.?), PAX6(NM_001310160.1):c.508+4A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000723417" "0" "90" "11" "31815627" "31815627" "subst" "0" "02327" "PAX6_000781" "g.31815627G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000723418" "0" "50" "11" "31816325" "31816325" "subst" "0" "02330" "PAX6_000788" "g.31816325G>T" "" "" "" "PAX6(NM_001310160.2):c.127C>A (p.Q43K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000723419" "0" "30" "11" "31822304" "31822304" "subst" "0" "01943" "PAX6_000789" "g.31822304G>A" "" "" "" "PAX6(NM_001310160.1):c.50C>T (p.T17I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000723420" "0" "10" "11" "31822369" "31822369" "subst" "8.12143E-6" "02330" "PAX6_000753" "g.31822369A>G" "" "" "" "PAX6(NM_001368910.2):c.636T>C (p.A212=), PAX6(NM_001604.5):c.435T>C (p.A145=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000723421" "0" "50" "11" "31823275" "31823275" "subst" "0" "01943" "PAX6_000790" "g.31823275C>A" "" "" "" "PAX6(NM_001310158.1):c.233G>T (p.G78V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000723422" "0" "90" "11" "31824313" "31824313" "del" "0" "02327" "PAX6_000791" "g.31824313del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000723423" "0" "50" "11" "31824367" "31824367" "subst" "0" "02329" "PAX6_000766" "g.31824367T>A" "" "" "" "PAX6(NM_000280.3):c.26A>T (p.N9I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000730892" "0" "90" "11" "31816238" "31816238" "subst" "4.06081E-6" "00000" "PAX6_000795" "g.31816238G>A" "" "{PMID:Patel 2017:29450879}" "" "" "" "De novo" "" "" "0" "" "" "g.31794690G>A" "" "pathogenic (dominant)" "" "0000730973" "21" "90" "11" "31811483" "31811483" "subst" "0" "00006" "PAX6_000792" "g.31811483T>A" "" "{PMID:de Castro-Miro 2018:29367200}" "" "1310A>T (*437L)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000731325" "1" "70" "11" "31824280" "31824280" "subst" "0" "00000" "PAX6_000796" "g.31824280C>G" "" "{PMID:Rim 2017:29145603}" "" "" "" "Germline" "" "" "0" "" "" "g.31802732C>G" "" "likely pathogenic" "" "0000731326" "1" "70" "11" "31816238" "31816238" "subst" "4.06081E-6" "00000" "PAX6_000795" "g.31816238G>A" "" "{PMID:Rim 2017:29145603}" "" "" "" "Germline" "" "" "0" "" "" "g.31794690G>A" "" "likely pathogenic" "" "0000731327" "1" "70" "11" "31815334" "31815334" "subst" "0" "00000" "PAX6_000794" "g.31815334C>A" "" "{PMID:Rim 2017:29145603}" "" "" "" "Germline" "" "" "0" "" "" "g.31793786C>A" "" "likely pathogenic" "" "0000731328" "1" "70" "11" "31812353" "31812353" "subst" "0" "00000" "PAX6_000793" "g.31812353G>T" "" "{PMID:Rim 2017:29145603}" "" "" "" "Germline" "" "" "0" "" "" "g.31790805G>T" "" "likely pathogenic" "" "0000733163" "0" "70" "11" "31823239" "31823239" "subst" "0" "00000" "PAX6_000797" "g.31823239G>A" "" "{PMID:Stone 2017:28559085}" "" "" "" "De novo" "" "" "0" "" "" "g.31801691G>A" "" "likely pathogenic" "" "0000735638" "0" "90" "11" "31811481" "31824383" "del" "0" "00000" "PAX6_000798" "g.(?_31811481)_(31824383_31827949)del" "" "{PMID:Haer-Wigman 2017:28224992}" "" "NM_001604.5:(10+1_11-1)_(1311_?)del" "" "Germline" "" "" "0" "" "" "g.(?_31789933)_(31802835_31806401)del" "" "pathogenic" "" "0000780174" "0" "70" "11" "31824280" "31824280" "subst" "0" "01164" "PAX6_000799" "g.31824280C>T" "" "" "" "" "ACMG: PM1, PM5, PP2_SUP, PP3; ExAC gene missense constraint >3,0, p.Arg38Gly,Pro,Trp regarded pathogenic" "Germline" "?" "" "" "" "" "" "" "likely pathogenic (dominant)" "ACMG" "0000792398" "0" "70" "11" "31824280" "31824280" "subst" "0" "03508" "PAX6_000796" "g.31824280C>G" "" "" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "VUS" "ACMG" "0000794219" "0" "70" "11" "31812256" "31812256" "subst" "0" "03508" "PAX6_000800" "g.31812256A>T" "" "" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "VUS" "ACMG" "0000794688" "0" "70" "11" "31827945" "31827945" "subst" "0" "03508" "PAX6_000801" "g.31827945C>G" "" "" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "VUS" "ACMG" "0000797397" "0" "70" "11" "31815627" "31815627" "subst" "0" "00000" "PAX6_000781" "g.31815627G>A" "" "{PMID:Patel 2019:30653986}" "" "c.718C-->T; p.Arg240*" "no Sanger sequencing; heterozygous" "Germline" "?" "" "0" "" "" "g.31794079G>A" "" "likely pathogenic" "" "0000798361" "0" "70" "11" "31822379" "31822379" "subst" "0" "03508" "PAX6_000718" "g.31822379C>T" "" "" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "VUS" "ACMG" "0000798362" "0" "70" "11" "31812353" "31812353" "subst" "0" "03508" "PAX6_000793" "g.31812353G>T" "" "" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "pathogenic" "ACMG" "0000798363" "0" "70" "11" "31824280" "31824280" "subst" "0" "03508" "PAX6_000796" "g.31824280C>G" "" "" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "VUS" "ACMG" "0000798364" "0" "70" "11" "31815334" "31815334" "subst" "0" "03508" "PAX6_000794" "g.31815334C>A" "" "" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "VUS" "ACMG" "0000798365" "0" "70" "11" "31816253" "31816253" "subst" "0" "03508" "PAX6_000804" "g.31816253G>A" "" "" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "pathogenic" "ACMG" "0000798366" "0" "70" "11" "31816238" "31816238" "subst" "4.06081E-6" "03508" "PAX6_000795" "g.31816238G>A" "" "" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "VUS" "ACMG" "0000798367" "0" "70" "11" "31832379" "31832380" "del" "0" "03508" "PAX6_000805" "g.31832379_31832380del" "" "" "" "-133_-132delTA" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.31810831_31810832del" "" "VUS" "ACMG" "0000798368" "0" "70" "11" "31822365" "31822365" "subst" "0" "03508" "PAX6_000806" "g.31822365C>A" "" "" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "pathogenic" "ACMG" "0000798369" "0" "70" "11" "31815643" "31815643" "subst" "0" "03508" "PAX6_000807" "g.31815643A>T" "" "" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "pathogenic" "ACMG" "0000798370" "0" "70" "11" "31822400" "31822400" "subst" "0" "03508" "PAX6_000808" "g.31822400G>A" "" "" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "VUS" "ACMG" "0000798371" "0" "70" "11" "31816253" "31816253" "subst" "0" "03508" "PAX6_000804" "g.31816253G>A" "" "" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "pathogenic" "ACMG" "0000798373" "0" "70" "11" "31815643" "31815643" "subst" "0" "03508" "PAX6_000807" "g.31815643A>T" "" "" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "pathogenic" "ACMG" "0000798374" "0" "70" "11" "31822404" "31822404" "subst" "0" "03508" "PAX6_000809" "g.31822404C>G" "" "" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "VUS" "ACMG" "0000798375" "0" "70" "11" "31823109" "31823109" "subst" "0" "03508" "PAX6_000757" "g.31823109G>T" "" "" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "VUS" "ACMG" "0000798376" "0" "70" "11" "31815667" "31815667" "subst" "0" "03508" "PAX6_000810" "g.31815667A>G" "" "" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "VUS" "ACMG" "0000805085" "0" "30" "11" "31811483" "31811483" "del" "0" "02326" "PAX6_000733" "g.31811483del" "" "" "" "ELP4(NM_001288726.2):c.*6506delT, PAX6(NM_000280.3):c.*21delA, PAX6(NM_001368929.1):c.731delA (p.K244Rfs*29), PAX6(NM_001368929.2):c.731delA (p.K2...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805086" "0" "50" "11" "31815006" "31815006" "subst" "0" "02330" "PAX6_000811" "g.31815006C>T" "" "" "" "PAX6(NM_001310160.2):c.604G>A (p.A202T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000805087" "0" "90" "11" "31822390" "31822393" "del" "0" "02327" "PAX6_000812" "g.31822390_31822393del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000805088" "0" "50" "11" "31823275" "31823275" "subst" "0" "02327" "PAX6_000813" "g.31823275C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000805089" "0" "30" "11" "31832381" "31832381" "subst" "0" "02327" "PAX6_000814" "g.31832381T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000811358" "0" "70" "11" "31824384" "31824384" "subst" "0" "00000" "PAX6_000821" "g.31824384T>C" "" "{PMID:Wang 2019:31555371}" "" "c.11-2A>G, p.(?)" "" "Germline" "?" "" "0" "" "" "g.31802836T>C" "" "likely pathogenic" "" "0000812518" "0" "70" "11" "31824273" "31824273" "subst" "0" "00000" "PAX6_000803" "g.31824273G>T" "" "{PMID:Wang 2019:31106028}" "" "c.120C>A, p.(Cys40*)" "different transcript: NM_001604.5(PAX6):c.112del, heterozygous" "Germline" "yes" "" "0" "" "" "g.31802725G>T" "" "likely pathogenic" "" "0000812531" "0" "90" "11" "31824283" "31824283" "del" "0" "00000" "PAX6_000728" "g.31824283del" "" "{PMID:Wang 2019:31106028}" "" "c.112del, p.(Arg38Glyfs*30)" "different transcript: NM_001604.5(PAX6):c.112del, heterozygous" "Germline" "?" "" "0" "" "" "g.31802735del" "" "pathogenic" "" "0000812592" "0" "90" "11" "31823108" "31823108" "subst" "0" "00000" "PAX6_000771" "g.31823108C>T" "" "{PMID:Wang 2019:31106028}" "" "c.399+1C>T, p.?" "different transcript,error in annotation: NM_001604.5(PAX6):c.399+1G>A, heterozygous" "Germline" "yes" "" "0" "" "" "g.31801560C>T" "" "pathogenic" "" "0000812619" "0" "90" "11" "31811502" "31811502" "subst" "0" "00000" "PAX6_000816" "g.31811502A>T" "" "{PMID:Wang 2019:31106028}" "" "c.1291T>A, p.(Tyr431Asn)" "different transcript: NM_001604.5(PAX6):c.1291T>A causes p.(Tyr431Asn), heterozygous" "Germline" "?" "" "0" "" "" "g.31789954A>T" "" "pathogenic" "" "0000812648" "0" "90" "11" "31811483" "31811484" "dup" "0" "00000" "PAX6_000815" "g.31811483_31811484dup" "" "{PMID:Wang 2019:31106028}" "" "c.1309_1310dup, p.(437Tyrext*102)" "different transcript: NM_001604.5(PAX6):c.1309_1310dup causes p.(*437Tyrext*102), heterozygous" "Germline" "?" "" "0" "" "" "g.31789935_31789936dup" "" "pathogenic" "" "0000812740" "0" "70" "11" "31824286" "31824286" "subst" "0" "00000" "PAX6_000820" "g.31824286C>A" "" "{PMID:Wang 2019:31106028}" "" "c.107G>T, p.(Gly36Val)" "different transcript: NM_001604.5(PAX6):c.107G>T, heterozygous" "Germline" "?" "" "0" "" "" "g.31802738C>A" "" "likely pathogenic" "" "0000812752" "0" "90" "11" "31812409" "31812409" "subst" "0" "00000" "PAX6_000817" "g.31812409C>T" "" "{PMID:Wang 2019:31106028}" "" "c.1075-1G>A, p.?" "different transcript: NM_001604.5(PAX6):c.1075-1G>A, heterozygous" "Germline" "?" "" "0" "" "" "g.31790861C>T" "" "pathogenic" "" "0000812763" "0" "70" "11" "31823191" "31823191" "subst" "2.84239E-5" "00000" "PAX6_000729" "g.31823191C>T" "" "{PMID:Wang 2019:31106028}" "" "c.317G>A, p.(Arg106Gln)" "different transcript: NM_001604.3(PAX6):c.317G>A, heterozygous" "Germline" "?" "" "0" "" "" "g.31801643C>T" "" "likely pathogenic" "" "0000812822" "0" "90" "11" "31822244" "31822252" "del" "0" "00000" "PAX6_000819" "g.31822244_31822252del" "" "{PMID:Wang 2019:31106028}" "" "c.556_564del, p.(Pro186_Gln188del)" "different transcript: NM_001604.3(PAX6):c.556_564del, heterozygous" "Germline" "?" "" "0" "" "" "g.31800696_31800704del" "" "pathogenic" "" "0000812825" "0" "70" "11" "31811483" "31811483" "subst" "0" "00000" "PAX6_000792" "g.31811483T>A" "" "{PMID:Wang 2019:31106028}" "" "c.1310A>T, p.(437Leuext*14)" "different transcript: NM_001604.5(PAX6):c.1310A>T, heterozygous" "Germline" "yes" "" "0" "" "" "g.31789935T>A" "" "likely pathogenic" "" "0000812847" "0" "90" "11" "31815337" "31815344" "del" "0" "00000" "PAX6_000818" "g.31815337_31815344del" "" "{PMID:Wang 2019:31106028}" "" "c.815_822del, p.(Phe272Serfs*23)" "different transcript: NM_001604.5(PAX6):c.815_822del, heterozygous" "De novo" "yes" "" "0" "" "" "g.31793789_31793796del" "" "pathogenic" "" "0000814429" "0" "90" "11" "31815069" "31815069" "subst" "0" "00000" "PAX6_000716" "g.31815069G>A" "" "{PMID:Lenassi 2020:31848469}" "" "PAX6 c.991C>T p.(Arg331Ter) het" "different transcript: NM_001258462.1(PAX6):c.991C>T, p.(Arg331*), heterozygous" "Germline" "?" "" "0" "" "" "g.31793521G>A" "" "pathogenic" "ACMG" "0000817701" "0" "70" "11" "31822354" "31822355" "dup" "0" "00000" "PAX6_000822" "g.31822354_31822355dup" "" "{PMID:Zanolli 2020:32141364}" "" "PAX6 c.408_409dupGA" "no protein change given, heterozygous" "Unknown" "?" "" "0" "" "" "g.31800806_31800807dup" "" "likely pathogenic" "" "0000821014" "0" "70" "11" "31815329" "31815329" "subst" "0" "00000" "PAX6_000824" "g.31815329C>T" "1/64" "{PMID:Liu 2020:32562694}" "" "PAX6 c.829G>A, p.Ala277Thr" "different transcript, NM_001368894.2(PAX6):c.829G>A, p.(Ala277Thr), heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.31793781C>T" "" "likely pathogenic" "" "0000821020" "0" "70" "11" "31815200" "31815200" "subst" "0" "00000" "PAX6_000823" "g.31815200C>T" "1/64" "{PMID:Liu 2020:32562694}" "" "PAX6 c.958G>A, p.Val320Ile" "different transcript, NM_001368894.2(PAX6):c.958G>A, p.(Val320Ile), heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.31793652C>T" "" "likely pathogenic" "" "0000822963" "0" "70" "11" "31824280" "31824287" "dup" "0" "00000" "PAX6_000825" "g.31824280_31824287dup" "" "{PMID:Méjécase 2020:32783370}" "" "PAX6 c.107_114dup p.(Pro39Glyfs * 18)" "heterozygous" "Unknown" "?" "" "0" "" "" "g.31802732_31802739dup" "" "likely pathogenic" "" "0000824260" "0" "90" "11" "31827958" "31827958" "subst" "0" "00000" "PAX6_000827" "g.31827958A>C" "" "{PMID:Bell 2021:33494148}" "" "PAX6 c.2T>G, -" "heterozygous" "De novo" "yes" "" "0" "" "" "g.31806410A>C" "" "pathogenic" "" "0000824270" "0" "90" "11" "31815627" "31815627" "subst" "0" "00000" "PAX6_000781" "g.31815627G>A" "" "{PMID:Bell 2021:33494148}" "" "PAX6 c.718C>T, p.Arg240Ter" "heterozygous" "Germline" "yes" "" "0" "" "" "g.31794079G>A" "" "pathogenic" "" "0000824276" "0" "90" "11" "31811568" "31811568" "subst" "0" "00000" "PAX6_000826" "g.31811568C>G" "" "{PMID:Bell 2021:33494148}" "" "PAX6 c.1184-1G>C, -" "heterozygous" "Germline" "yes" "" "0" "" "" "g.31790020C>G" "" "pathogenic" "" "0000836569" "1" "70" "11" "31823225" "31823233" "del" "0" "00006" "PAX6_000829" "g.31823225_31823233del" "" "{PMID:Ehrenberg 2021:33594928}" "" "" "" "Germline" "" "" "0" "" "" "g.31801677_31801685del" "" "likely pathogenic" "" "0000836570" "1" "70" "11" "31823233" "31823233" "subst" "0" "00006" "PAX6_000828" "g.31823233A>C" "" "{PMID:Ehrenberg 2021:33594928}" "" "NM_1258462.2:c.275T>G" "" "Germline" "" "" "0" "" "" "g.31801685A>C" "" "likely pathogenic" "" "0000836571" "1" "70" "11" "31822379" "31822379" "subst" "0" "00006" "PAX6_000718" "g.31822379C>T" "" "{PMID:Ehrenberg 2021:33594928}" "" "" "" "Germline" "" "" "0" "" "" "g.31800831C>T" "" "likely pathogenic" "" "0000836572" "1" "70" "11" "31811483" "31811483" "subst" "0" "00006" "PAX6_000792" "g.31811483T>A" "" "{PMID:Ehrenberg 2021:33594928}" "" "" "" "Germline" "" "" "0" "" "" "g.31789935T>A" "" "likely pathogenic" "" "0000836573" "1" "70" "11" "31811483" "31811483" "subst" "0" "00006" "PAX6_000792" "g.31811483T>A" "" "{PMID:Ehrenberg 2021:33594928}" "" "" "" "Germline" "" "" "0" "" "" "g.31789935T>A" "" "likely pathogenic" "" "0000836574" "1" "70" "11" "0" "0" "" "0" "00006" "PAX6_000703" "g.?" "" "{PMID:Ehrenberg 2021:33594928}" "" "NM_001368900.1:c.142-3T>C" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000836575" "1" "70" "11" "31823109" "31823109" "subst" "0" "00006" "PAX6_000757" "g.31823109G>T" "" "{PMID:Ehrenberg 2021:33594928}" "" "" "" "Germline" "" "" "0" "" "" "g.31801561G>T" "" "likely pathogenic" "" "0000836576" "1" "70" "11" "31811483" "31811483" "subst" "0" "00006" "PAX6_000792" "g.31811483T>A" "" "{PMID:Ehrenberg 2021:33594928}" "" "" "" "Germline" "" "" "0" "" "" "g.31789935T>A" "" "likely pathogenic" "" "0000836577" "1" "70" "11" "31811483" "31811483" "subst" "0" "00006" "PAX6_000792" "g.31811483T>A" "" "{PMID:Ehrenberg 2021:33594928}" "" "" "" "Germline" "" "" "0" "" "" "g.31789935T>A" "" "likely pathogenic" "" "0000836578" "1" "70" "11" "31823312" "31823312" "subst" "0" "00006" "PAX6_000703" "g.31823312A>G" "" "{PMID:Ehrenberg 2021:33594928}" "" "NM_001258462.1:c.196T>C" "" "Germline" "" "" "0" "" "" "g.31801764A>G" "" "likely pathogenic" "" "0000847408" "21" "70" "11" "31822288" "31822288" "subst" "4.06078E-6" "00000" "PAX6_000830" "g.31822288G>A" "" "" "" "c.474C>T p.R38W" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000852881" "0" "30" "11" "31822339" "31822339" "subst" "8.52723E-5" "01943" "PAX6_000834" "g.31822339G>C" "" "" "" "PAX6(NM_000280.4):c.423C>G (p.(Gly141=)), PAX6(NM_001310160.1):c.15C>G (p.G5=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000852882" "0" "30" "11" "31823419" "31823419" "subst" "4.06161E-6" "01943" "PAX6_000836" "g.31823419G>A" "" "" "" "PAX6(NM_001310158.1):c.183C>T (p.N61=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000852883" "0" "50" "11" "31824331" "31824331" "subst" "0" "01943" "PAX6_000840" "g.31824331A>G" "" "" "" "PAX6(NM_001310158.1):c.62T>C (p.L21P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000852884" "0" "10" "11" "31832367" "31832367" "subst" "0" "02330" "PAX6_000772" "g.31832367C>T" "" "" "" "PAX6(NM_001368905.2):c.-910+9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000862506" "0" "30" "11" "31811557" "31811557" "subst" "0.000312737" "01804" "PAX6_000831" "g.31811557G>A" "" "" "" "PAX6(NM_000280.4):c.1194C>T (p.(=)), PAX6(NM_001368929.2):c.635C>T (p.P212L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862507" "0" "30" "11" "31815575" "31815575" "subst" "0.00011776" "01804" "PAX6_000779" "g.31815575G>A" "" "" "" "PAX6(NM_000280.4):c.765+5C>T (p.?), PAX6(NM_001310160.2):c.357+5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862508" "0" "30" "11" "31815634" "31815634" "subst" "0.000458853" "02327" "PAX6_000749" "g.31815634C>T" "" "" "" "PAX6(NM_000280.4):c.711G>A (p.(Val237=)), PAX6(NM_001310160.1):c.303G>A (p.V101=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862509" "0" "30" "11" "31816173" "31816173" "subst" "0" "01943" "PAX6_000832" "g.31816173A>G" "" "" "" "PAX6(NM_001310160.1):c.274+5T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862510" "0" "50" "11" "31816191" "31816191" "subst" "0" "01804" "PAX6_000833" "g.31816191C>A" "" "" "" "PAX6(NM_000280.4):c.669G>T (p.(Glu223Asp)), PAX6(NM_000280.6):c.669G>T (p.E223D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000862511" "0" "30" "11" "31822339" "31822339" "subst" "8.52723E-5" "01804" "PAX6_000834" "g.31822339G>C" "" "" "" "PAX6(NM_000280.4):c.423C>G (p.(Gly141=)), PAX6(NM_001310160.1):c.15C>G (p.G5=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862512" "0" "30" "11" "31822341" "31822341" "subst" "8.12117E-6" "01804" "PAX6_000835" "g.31822341C>T" "" "" "" "PAX6(NM_000280.4):c.421G>A (p.(Gly141Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862513" "0" "50" "11" "31823455" "31823455" "subst" "0" "01804" "PAX6_000837" "g.31823455A>T" "" "" "" "PAX6(NM_001258462.1):c.147T>A (p.(His49Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000862514" "0" "30" "11" "31824241" "31824241" "subst" "8.42879E-6" "01804" "PAX6_000838" "g.31824241G>C" "" "" "" "PAX6(NM_000280.4):c.141+11C>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862515" "0" "30" "11" "31824263" "31824263" "subst" "0.000448117" "01804" "PAX6_000763" "g.31824263G>T" "" "" "" "PAX6(NM_000280.4):c.130C>A (p.(Arg44=)), PAX6(NM_001310158.1):c.130C>A (p.R44=), PAX6(NM_001368910.2):c.373C>A (p.R125=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862516" "0" "90" "11" "31824281" "31824285" "del" "0" "02327" "PAX6_000839" "g.31824281_31824285del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000873456" "0" "70" "11" "31824273" "31824273" "subst" "0" "00000" "PAX6_000803" "g.31824273G>T" "112" "{PMID:Sun 2018:30076350}" "" "PAX6(NM_001258462.1):c.120C>A(p.C40*)" "different transcript: NM_001258462.1(PAX6):c.120C>A, p.(C40*)" "Germline/De novo (untested)" "?" "" "0" "" "" "g.31802725G>T" "" "likely pathogenic" "" "0000873527" "0" "70" "11" "0" "0" "" "0" "00000" "DRD4_000002" "g.?" "163" "{PMID:Sun 2018:30076350}" "" "PAX6(NM_001258462.1):c.817_818insT(p.S273Ffs*2)" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.?" "" "likely pathogenic" "" "0000881232" "21" "90" "11" "31824281" "31824281" "subst" "0" "02300" "PAX6_000786" "g.31824281G>C" "" "{PMID:Marinakis 2021:34008892}" "" "NM_001258462.1:c.112C>G (Arg38Gly)" "ACMG PS4, PM1, PM2, PP3, PP4" "Germline" "" "rs397514640" "0" "" "" "g.31802733G>C" "" "pathogenic (dominant)" "ACMG" "0000889799" "0" "30" "11" "31811557" "31811557" "subst" "0.000312737" "02330" "PAX6_000831" "g.31811557G>A" "" "" "" "PAX6(NM_000280.4):c.1194C>T (p.(=)), PAX6(NM_001368929.2):c.635C>T (p.P212L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000889800" "0" "30" "11" "31812397" "31812397" "subst" "0" "01804" "PAX6_000841" "g.31812397G>C" "" "" "" "PAX6(NM_001604.5):c.1086C>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000889801" "0" "90" "11" "31815335" "31815335" "subst" "0" "02327" "PAX6_000842" "g.31815335G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000889803" "0" "70" "11" "31823309" "31823309" "subst" "0" "02327" "PAX6_000843" "g.31823309C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000889804" "0" "50" "11" "31823415" "31823415" "subst" "0" "01804" "PAX6_000844" "g.31823415T>C" "" "" "" "PAX6(NM_001604.5):c.183+4A>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000889805" "0" "50" "11" "31823418" "31823418" "subst" "0" "01804" "PAX6_000845" "g.31823418C>T" "" "" "" "PAX6(NM_001604.5):c.183+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000913574" "0" "50" "11" "31814998" "31814998" "subst" "0" "01804" "PAX6_000846" "g.31814998G>C" "" "" "" "PAX6(NM_001604.5):c.1062C>G (p.(Asn354Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000921499" "0" "90" "11" "31822318" "31822319" "ins" "0" "00006" "PAX6_000850" "g.31822318_31822319insT" "" "{PMID:Jiao 2022:36670602}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.31800770_31800771insT" "" "pathogenic (dominant)" "" "0000921500" "21" "90" "11" "31822318" "31822319" "ins" "0" "00006" "PAX6_000850" "g.31822318_31822319insT" "" "{PMID:Jiao 2022:36670602}" "" "" "" "Germline" "" "" "0" "" "" "g.31800770_31800771insT" "" "pathogenic (dominant)" "" "0000921519" "0" "90" "11" "31815593" "31815593" "del" "0" "00006" "PAX6_000849" "g.31815593del" "" "{PMID:Zhai 2017:28450710}" "" "NM_001258463.1:795delA" "" "De novo" "" "" "0" "" "" "g.31794045del" "" "pathogenic (dominant)" "" "0000921521" "21" "90" "11" "31823166" "31823166" "subst" "0" "00006" "PAX6_000853" "g.31823166C>T" "" "{PMID:Zhai 2017:28450710}" "" "NM_001258463.1:342G>A" "" "Germline" "" "" "0" "" "" "g.31801618C>T" "" "pathogenic (dominant)" "" "0000921542" "1" "90" "11" "31823141" "31823141" "subst" "0" "00006" "PAX6_000852" "g.31823141C>A" "" "{PMID:Li 2016:27307692}" "" "NM_001604:p.Glu123*" "" "Germline" "" "" "0" "" "" "g.31801593C>A" "" "pathogenic" "" "0000921806" "0" "90" "11" "31824316" "31824316" "subst" "0" "00006" "PAX6_000854" "g.31824316C>T" "" "{PMID:Fernandez-Alcalde 2021:33923544}" "" "" "" "De novo" "" "" "0" "" "" "g.31802768C>T" "" "pathogenic (dominant)" "" "0000921807" "0" "70" "11" "31823289" "31823289" "subst" "0" "00006" "PAX6_000847" "g.31823289C>A" "" "{PMID:Fernandez-Alcalde 2021:33923544}" "" "NM_001258462.2:c.219G>T" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.31801741C>A" "" "likely pathogenic (dominant)" "" "0000921849" "0" "90" "11" "31811531" "31811540" "del" "0" "00006" "PAX6_000848" "g.31811531_31811540del" "" "{PMID:Jackson 2020:32830442}" "" "NM_001368894.2:c.1253_1262del10" "" "Germline" "" "" "0" "" "" "g.31789983_31789992del" "" "pathogenic (dominant)" "" "0000921875" "0" "90" "11" "31822391" "31822391" "subst" "0" "00006" "PAX6_000851" "g.31822391T>C" "" "{PMID:Jackson 2020:32830442}" "" "NM_001368894.2:c.413A>G" "" "Germline" "" "" "0" "" "" "g.31800843T>C" "" "pathogenic (dominant)" "" "0000921880" "0" "90" "11" "31824283" "31824283" "del" "0" "00006" "PAX6_000728" "g.31824283del" "" "{PMID:Jackson 2020:32830442}" "" "NM_001368894.2:c.112delG" "" "Germline" "" "" "0" "" "" "g.31802735del" "" "pathogenic (dominant)" "" "0000925375" "0" "30" "11" "31811358" "31811358" "subst" "0.000281897" "02330" "PAX6_000855" "g.31811358G>A" "" "" "" "PAX6(NM_001368929.2):c.834C>T (p.Y278=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000925376" "0" "50" "11" "31823233" "31823233" "subst" "0" "02327" "PAX6_000856" "g.31823233A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000925377" "0" "90" "11" "31828475" "31828475" "del" "0" "02327" "PAX6_000857" "g.31828475del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000925378" "0" "30" "11" "31828480" "31828480" "subst" "0" "02327" "PAX6_000858" "g.31828480C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929851" "0" "10" "11" "31815362" "31815362" "subst" "0.0843132" "02327" "PAX6_000335" "g.31815362G>A" "" "" "" "PAX6(NM_000280.3):c.766-12C>T, PAX6(NM_000280.6):c.766-12C>T, PAX6(NM_001604.5):c.808-12C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000929852" "0" "70" "11" "31815580" "31815580" "subst" "0" "02327" "PAX6_000859" "g.31815580C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000929853" "0" "90" "11" "31816253" "31816253" "subst" "0" "02327" "PAX6_000804" "g.31816253G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000929854" "0" "90" "11" "31824341" "31824341" "subst" "0" "02327" "PAX6_000308" "g.31824341C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000929855" "0" "30" "11" "31832367" "31832367" "subst" "0" "02327" "PAX6_000772" "g.31832367C>T" "" "" "" "PAX6(NM_001368905.2):c.-910+9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000954056" "0" "70" "11" "31822379" "31822379" "subst" "0" "00006" "PAX6_000718" "g.31822379C>T" "" "{PMID:Moon 2021:35052368}" "" "" "" "Germline" "" "" "0" "" "" "g.31800831C>T" "" "likely pathogenic" "" "0000954057" "0" "90" "11" "31816253" "31816253" "subst" "0" "00006" "PAX6_000804" "g.31816253G>A" "" "{PMID:Moon 2021:35052368}" "" "" "" "Germline" "" "" "0" "" "" "g.31794705G>A" "" "pathogenic" "" "0000954058" "0" "90" "11" "31822365" "31822365" "subst" "0" "00006" "PAX6_000806" "g.31822365C>A" "" "{PMID:Moon 2021:35052368}" "" "" "" "Germline" "" "" "0" "" "" "g.31800817C>A" "" "pathogenic" "" "0000954059" "0" "90" "11" "31815643" "31815643" "subst" "0" "00006" "PAX6_000807" "g.31815643A>T" "" "{PMID:Moon 2021:35052368}" "" "" "" "Germline" "" "" "0" "" "" "g.31794095A>T" "" "pathogenic" "" "0000954060" "0" "70" "11" "31822400" "31822400" "subst" "0" "00006" "PAX6_000808" "g.31822400G>A" "" "{PMID:Moon 2021:35052368}" "" "" "" "Germline" "" "" "0" "" "" "g.31800852G>A" "" "likely pathogenic" "" "0000954061" "0" "90" "11" "31816253" "31816253" "subst" "0" "00006" "PAX6_000804" "g.31816253G>A" "" "{PMID:Moon 2021:35052368}" "" "" "" "Germline" "" "" "0" "" "" "g.31794705G>A" "" "pathogenic" "" "0000954062" "0" "90" "11" "31815643" "31815643" "subst" "0" "00006" "PAX6_000807" "g.31815643A>T" "" "{PMID:Moon 2021:35052368}" "" "" "" "Germline" "" "" "0" "" "" "g.31794095A>T" "" "pathogenic" "" "0000954113" "21" "90" "11" "31824280" "31824280" "subst" "0" "00006" "PAX6_000799" "g.31824280C>T" "" "{PMID:Li 2018:29914532}" "" "" "mother germline mosiac" "Germline" "" "" "0" "" "" "g.31802732C>T" "" "pathogenic (dominant)" "" "0000954142" "21" "90" "11" "31824262" "31824262" "subst" "0" "00006" "PAX6_000860" "g.31824262C>G" "" "{PMID:Riera 2017:29178648}" "" "" "grandmother likely germline mosaic" "Germline" "yes" "" "0" "" "" "g.31802714C>G" "" "pathogenic (dominant)" "" "0000954782" "21" "70" "11" "31824341" "31824341" "subst" "0" "00006" "PAX6_000308" "g.31824341C>T" "" "{PMID:Fan 2020:32883240}" "" "" "" "Germline" "yes" "" "0" "" "" "g.31802793C>T" "" "likely pathogenic (dominant)" "" "0000954783" "21" "50" "11" "31824280" "31824280" "subst" "0" "00006" "PAX6_000796" "g.31824280C>G" "" "{PMID:Fan 2020:32883240}" "" "" "variant in affected mother from consanguineous family" "Germline" "yes" "" "0" "" "" "g.31802732C>G" "" "VUS" "" "0000954784" "20" "90" "11" "31815095" "31815095" "del" "0" "00006" "PAX6_000862" "g.31815095del" "" "{PMID:Fan 2020:32883240}" "" "NM_001310158.1:c.966del" "parental samples unavailable, mother affected" "Germline" "yes" "" "0" "" "" "g.31793547del" "" "pathogenic (dominant)" "" "0000954806" "21" "90" "11" "31812366" "31812366" "del" "0" "00006" "PAX6_000861" "g.31812366del" "" "{PMID:Ma 2016:26694549}" "" "NM_001604.5:c.1119del" "" "Germline" "" "" "0" "" "" "g.31790818del" "" "pathogenic (dominant)" "" "0000954812" "0" "70" "11" "31823269" "31823269" "subst" "0" "00006" "PAX6_000863" "g.31823269A>T" "" "{PMID:Ma 2016:26694549}" "" "NM_001604.5:c.239T>A" "" "De novo" "" "" "0" "" "" "g.31801721A>T" "" "likely pathogenic (dominant)" "" "0000954858" "0" "90" "11" "31824317" "31824317" "subst" "0" "00006" "PAX6_000864" "g.31824317G>A" "" "{PMID:Patel 2017:27878435}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.31802769G>A" "" "pathogenic (dominant)" "" "0000955024" "0" "90" "11" "31824341" "31824341" "subst" "0" "00006" "PAX6_000308" "g.31824341C>T" "" "{PMID:Reichsteiner 2021:34014271}" "" "" "" "De novo" "" "" "0" "" "" "g.31802793C>T" "" "pathogenic (dominant)" "" "0000957372" "11" "90" "11" "31824287" "31824287" "del" "0" "00006" "PAX6_000868" "g.31824287del" "" "{PMID:Liu 2023:37337769}" "" "NM_001310158.1:c.109del (Ala37Profs31)" "" "Germline" "yes" "rs1057517780" "0" "" "" "g.31802739del" "rs1057517780" "pathogenic (dominant)" "" "0000957373" "0" "90" "11" "31824287" "31824287" "del" "0" "00006" "PAX6_000868" "g.31824287del" "" "{PMID:Liu 2023:37337769}" "" "NM_001310158.1:c.109del (Ala37Profs31)" "" "Germline" "yes" "rs1057517780" "0" "" "" "g.31802739del" "rs1057517780" "pathogenic (dominant)" "" "0000957378" "21" "90" "11" "31815199" "31815199" "subst" "0" "00006" "PAX6_000866" "g.31815199C>G" "" "{PMID:Liu 2023:37337769}" "" "NM_001310158.1:c.958+1G>C" "" "Germline" "yes" "rs1057517783" "0" "" "" "g.31793651C>G" "rs1057517783" "pathogenic (dominant)" "" "0000957379" "0" "90" "11" "31815199" "31815199" "subst" "0" "00006" "PAX6_000866" "g.31815199C>G" "" "{PMID:Liu 2023:37337769}" "" "NM_001310158.1:c.958+1G>C" "" "Germline" "yes" "rs1057517783" "0" "" "" "g.31793651C>G" "rs1057517783" "pathogenic (dominant)" "" "0000957380" "21" "90" "11" "31815199" "31815199" "subst" "0" "00006" "PAX6_000866" "g.31815199C>G" "" "{PMID:Liu 2023:37337769}" "" "NM_001310158.1:c.958+1G>C" "" "Germline" "yes" "rs1057517783" "0" "" "" "g.31793651C>G" "rs1057517783" "pathogenic (dominant)" "" "0000957381" "21" "90" "11" "31815199" "31815199" "subst" "0" "00006" "PAX6_000866" "g.31815199C>G" "" "{PMID:Liu 2023:37337769}" "" "NM_001310158.1:c.958+1G>C" "" "Germline" "yes" "rs1057517783" "0" "" "" "g.31793651C>G" "rs1057517783" "pathogenic (dominant)" "" "0000957395" "11" "90" "11" "31823159" "31823159" "subst" "0" "00006" "PAX6_000776" "g.31823159G>A" "" "{PMID:Liu 2023:37337769}" "" "NM_001310158.1:c.349C>T (Arg117*)" "" "Germline" "yes" "rs121907914" "0" "" "" "g.31801611G>A" "rs121907914" "pathogenic (dominant)" "" "0000957396" "0" "90" "11" "31823159" "31823159" "subst" "0" "00006" "PAX6_000776" "g.31823159G>A" "" "{PMID:Liu 2023:37337769}" "" "NM_001310158.1:c.349C>T (Arg117*)" "" "Germline" "yes" "rs121907914" "0" "" "" "g.31801611G>A" "rs121907914" "pathogenic (dominant)" "" "0000957430" "21" "90" "11" "31824280" "31824280" "subst" "0" "00006" "PAX6_000796" "g.31824280C>G" "" "{PMID:Liu 2023:37337769}" "" "NM_001310158.1:c.113G>C (Arg38Pro)" "" "Germline" "yes" "" "0" "" "" "g.31802732C>G" "" "pathogenic (dominant)" "" "0000957431" "20" "90" "11" "31824280" "31824280" "subst" "0" "00006" "PAX6_000796" "g.31824280C>G" "" "{PMID:Liu 2023:37337769}" "" "NM_001310158.1:c.113G>C (Arg38Pro)" "" "Germline" "yes" "" "0" "" "" "g.31802732C>G" "" "pathogenic (dominant)" "" "0000957438" "0" "90" "11" "31812317" "31812317" "subst" "0.000264129" "00006" "PAX6_000865" "g.31812317G>T" "" "{PMID:Liu 2023:37337769}" "" "NM_001310158.1:c.1166C>A (Pro389Gln)" "incomplete penetrance" "Germline" "no" "rs200015827" "0" "" "" "g.31790769G>T" "rs200015827" "pathogenic (!)" "" "0000957439" "0" "90" "11" "31812317" "31812317" "subst" "0.000264129" "00006" "PAX6_000865" "g.31812317G>T" "" "{PMID:Liu 2023:37337769}" "" "NM_001310158.1:c.1166C>A (Pro389Gln)" "incomplete penetrance" "Germline" "no" "rs200015827" "0" "" "" "g.31790769G>T" "rs200015827" "pathogenic (!)" "" "0000957442" "10" "90" "11" "31824283" "31824283" "del" "0" "00006" "PAX6_000728" "g.31824283del" "" "{PMID:Liu 2023:37337769}" "" "NM_001310158.1:c.112del (Arg38Glyfs30)" "" "Germline" "yes" "" "0" "" "" "g.31802735del" "" "pathogenic (dominant)" "" "0000957446" "21" "90" "11" "31815095" "31815095" "del" "0" "00006" "PAX6_000862" "g.31815095del" "" "{PMID:Liu 2023:37337769}" "" "NM_001310158.1:c.966del (Phe323Serfs56)" "" "Germline" "yes" "" "0" "" "" "g.31793547del" "" "pathogenic (dominant)" "" "0000957457" "21" "70" "11" "31822300" "31822300" "del" "0" "00006" "PAX6_000867" "g.31822300del" "" "{PMID:Liu 2023:37337769}" "" "NM_001310158.1:c.505del (Ser169Alafs52)" "" "Germline" "yes" "" "0" "" "" "g.31800752del" "" "likely pathogenic (dominant)" "" "0000957458" "21" "70" "11" "31822300" "31822300" "del" "0" "00006" "PAX6_000867" "g.31822300del" "" "{PMID:Liu 2023:37337769}" "" "NM_001310158.1:c.505del (Ser169Alafs52)" "" "Germline" "yes" "" "0" "" "" "g.31800752del" "" "likely pathogenic (dominant)" "" "0000957473" "21" "70" "11" "31824341" "31824341" "subst" "0" "00006" "PAX6_000308" "g.31824341C>T" "" "{PMID:Liu 2023:37337769}" "" "NM_001310158.1:c.52G>A (Gly18Arg)" "" "Germline" "yes" "" "0" "" "" "g.31802793C>T" "" "likely pathogenic (dominant)" "" "0000957474" "0" "70" "11" "31824341" "31824341" "subst" "0" "00006" "PAX6_000308" "g.31824341C>T" "" "{PMID:Liu 2023:37337769}" "" "NM_001310158.1:c.52G>A (Gly18Arg)" "" "Germline" "yes" "" "0" "" "" "g.31802793C>T" "" "likely pathogenic (dominant)" "" "0000957494" "11" "70" "11" "31824305" "31824305" "del" "0" "00006" "PAX6_000869" "g.31824305del" "" "{PMID:Liu 2023:37337769}" "" "NM_001310158.1:c.88del (Val30*fs*1)" "" "Germline" "yes" "" "0" "" "" "g.31802757del" "" "likely pathogenic (dominant)" "" "0000957495" "0" "70" "11" "31824305" "31824305" "del" "0" "00006" "PAX6_000869" "g.31824305del" "" "{PMID:Liu 2023:37337769}" "" "NM_001310158.1:c.88del (Val30*fs*1)" "" "Germline" "yes" "" "0" "" "" "g.31802757del" "" "likely pathogenic (dominant)" "" "0000966330" "0" "10" "11" "31811482" "31811483" "del" "0" "02326" "PAX6_000732" "g.31811482_31811483del" "" "" "" "ELP4(NM_001288726.2):c.*6505_*6506delTT, PAX6(NM_000280.3):c.*20_*21delAA, PAX6(NM_001368929.1):c.730_731delAA (p.K244Gfs*7), PAX6(NM_001368929.2):..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000966332" "0" "30" "11" "31814917" "31814917" "subst" "0" "01804" "PAX6_000870" "g.31814917C>T" "" "" "" "PAX6(NM_001604.5):c.1074+69G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000966333" "0" "50" "11" "31815056" "31815056" "subst" "2.84338E-5" "01804" "PAX6_000871" "g.31815056G>C" "" "" "" "PAX6(NM_000280.4):c.962C>G (p.(Ala321Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000966338" "0" "50" "11" "31816211" "31816211" "subst" "0" "02327" "PAX6_000872" "g.31816211A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000966339" "0" "90" "11" "31823283" "31823283" "subst" "0" "02327" "PAX6_000873" "g.31823283G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000966340" "0" "10" "11" "31823407" "31823407" "subst" "4.06194E-6" "02330" "PAX6_000874" "g.31823407T>C" "" "" "" "PAX6(NM_000280.3):c.142-83A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000979547" "0" "30" "11" "31824197" "31824197" "subst" "0" "01804" "PAX6_000875" "g.31824197C>T" "" "" "" "PAX6(NM_001368918.2):c.196G>A (p.(Ala66Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000979548" "0" "30" "11" "31828831" "31828832" "ins" "0" "01804" "PAX6_000876" "g.31828831_31828832insTG" "" "" "" "PAX6(NM_001368891.2):c.-129+7_-129+8insAC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000985946" "0" "90" "11" "31815273" "31815274" "ins" "0" "00006" "PAX6_000885" "g.31815273_31815274insAC" "" "{PMID:Hall 2024:38050128}" "" "" "ACMG PM2, PVS1, PP4 mod" "Germline/De novo (untested)" "" "" "0" "" "" "g.31793725_31793726insAC" "" "pathogenic (dominant)" "" "0000985947" "0" "70" "11" "31828396" "31828396" "subst" "0" "00006" "PAX6_000891" "g.31828396C>G" "" "{PMID:Hall 2024:38050128}" "" "IVS3+1G>C" "ACMG PM2, PS1 supp, PP3, PP4 mod*" "Germline/De novo (untested)" "" "" "0" "" "" "g.31806848C>G" "" "likely pathogenic (dominant)" "" "0000985948" "0" "70" "11" "31828396" "31828396" "subst" "0" "00006" "PAX6_000892" "g.31828396C>A" "" "{PMID:Hall 2024:38050128}" "" "IVS3+1G>T" "ACMG PM2, PS4 supp, PP3, PS1 supp, PP4 mod*" "Germline/De novo (untested)" "" "" "0" "" "" "g.31806848C>A" "" "likely pathogenic (dominant)" "" "0000985949" "0" "70" "11" "31828475" "31828475" "del" "0" "00006" "PAX6_000857" "g.31828475del" "" "{PMID:Hall 2024:38050128}" "" "IVS2-2del" "ACMG PM2, PS4 mod, PP3, PP4 mod" "Germline/De novo (untested)" "" "" "0" "" "" "g.31806927del" "VCV000430969.2" "likely pathogenic (dominant)" "" "0000985950" "0" "90" "11" "31828475" "31828475" "del" "0" "00006" "PAX6_000857" "g.31828475del" "" "{PMID:Hall 2024:38050128}" "" "IVS2-2del" "ACMG PM2, PS4 mod, PP3, PS2, PP4 mod" "De novo" "" "" "0" "" "" "g.31806927del" "" "pathogenic (dominant)" "" "0000985951" "0" "70" "11" "31816110" "31816110" "subst" "0" "00006" "PAX6_000886" "g.31816110G>C" "" "{PMID:Hall 2024:38050128}" "" "" "ACMG PM2, PP3, PS2, PP4 mod" "De novo" "" "" "0" "" "" "g.31794562G>C" "" "likely pathogenic (dominant)" "" "0000985952" "0" "70" "11" "31822775" "31822775" "subst" "0" "00006" "PAX6_000889" "g.31822775C>T" "" "{PMID:Hall 2024:38050128}" "" "" "ACMG PM2, PS4 supp, PP3, PP4 mod" "Germline/De novo (untested)" "" "" "0" "" "" "g.31801227C>T" "VCV000559621.2" "likely pathogenic (dominant)" "" "0000985953" "0" "70" "11" "31816311" "31816437" "del" "0" "00006" "PAX6_000887" "g.31816311_31816437del" "" "{PMID:Hall 2024:38050128}" "" "g.31794763_31794889del" "del i7-ex8" "De novo" "" "" "0" "" "" "g.31794763_31794889del" "" "likely pathogenic (dominant)" "" "0000985954" "0" "70" "11" "31735622" "31926723" "del" "0" "00006" "PAX6_000882" "g.31735622_31926723del" "" "{PMID:Hall 2024:38050128}" "" "g.31714074_31905175del" "c.-533_*5142{0}" "Germline/De novo (untested)" "" "" "0" "" "" "g.31714074_31905175del" "" "likely pathogenic (dominant)" "" "0000985955" "0" "70" "11" "31798570" "31817564" "del" "0" "00006" "PAX6_000884" "g.31798570_31817564del" "" "{PMID:Hall 2024:38050128}" "" "g.31777022_31796016del" "C-termini of both ELP4 and PAX6 (intron 8 onwards)" "Germline/De novo (untested)" "" "" "0" "" "" "g.31777022_31796016del" "" "likely pathogenic (dominant)" "" "0000985956" "0" "70" "11" "31822360" "31823718" "del" "0" "00006" "PAX6_000888" "g.31822360_31823718del" "" "{PMID:Hall 2024:38050128}" "" "g.31800812_31802170del" "del ex6-7" "Germline/De novo (untested)" "" "" "0" "" "" "g.31800812_31802170del" "" "likely pathogenic (dominant)" "" "0000985957" "0" "70" "11" "31784515" "31825289" "del" "0" "00006" "PAX6_000883" "g.31784515_31825289del" "" "{PMID:Hall 2024:38050128}" "" "g.31762967_31803741del" "deletion incl. ELP4 and PAX6" "Germline" "yes" "" "0" "" "" "g.31762967_31803741del" "" "likely pathogenic (dominant)" "" "0000985958" "0" "70" "11" "31031082" "31704996" "del" "0" "00006" "PAX6_000878" "g.31031082_31704996del" "" "{PMID:Hall 2024:38050128}" "" "g.31009535_31683449del" "del PAX6 downstream regulatory region" "Germline/De novo (untested)" "" "" "0" "" "" "g.31009535_31683449del" "" "likely pathogenic (dominant)" "" "0000985959" "0" "70" "11" "31140508" "31738346" "del" "0" "00006" "PAX6_000878" "g.31140508_31738346del" "" "{PMID:Hall 2024:38050128}" "" "g.31118961_31716799del" "del PAX6 downstream regulatory region" "Germline/De novo (untested)" "" "" "0" "" "" "g.31118961_31716799del" "" "likely pathogenic (dominant)" "" "0000985960" "0" "70" "11" "30859428" "31701585" "del" "0" "00006" "PAX6_000878" "g.30859428_31701585del" "" "{PMID:Hall 2024:38050128}" "" "g.30837881_31680038del" "del PAX6 downstream regulatory region" "Germline/De novo (untested)" "" "" "0" "" "" "g.30837881_31680038del" "" "likely pathogenic (dominant)" "" "0000985961" "0" "70" "11" "24500578" "31814252" "inv" "0" "00006" "PAX6_000879" "g.24500578_31814252inv" "" "{PMID:Hall 2024:38050128}" "" "g.24479030_31792704inv" "7.3Mb inversion 11p13-11p14.3 with intragenic PAX6 breakpoint" "Germline/De novo (untested)" "" "" "0" "" "" "g.24479030_31792704inv" "" "likely pathogenic (dominant)" "" "0000985962" "0" "70" "11" "31723012" "36615048" "inv" "0" "00006" "PAX6_000881" "g.31723012_36615048inv" "" "{PMID:Hall 2024:38050128}" "" "g.31701464_36593500inv" "4.9Mb inversion separating PAX6 from downstream regulatory region; breakpoints in ELP4 and RAG2" "Germline/De novo (untested)" "" "" "0" "" "" "g.31701464_36593500inv" "" "likely pathogenic (dominant)" "" "0000985963" "0" "70" "11" "31827048" "31833130" ";" "0" "00006" "PAX6_000890" "g.[31827048_31833130inv;31833131_31863605del]" "" "{PMID:Hall 2024:38050128}" "" "46,XX t(1;9)(p36.1;q22)" "N-terminus of PAX6 up to intron 4" "De novo" "" "" "0" "" "" "g.[31805500_31811582inv;31811583_31842057del]" "" "likely pathogenic (dominant)" "" "0000985964" "1" "70" "11" "31802286" "31818542" "del" "0" "00006" "PAX6_000877" "g.31802286_31818542del" "" "{PMID:Hall 2024:38050128}" "" "g.31765420_31778063dup31780738_31796994del" "variant affects PAX6 and ELP4" "Germline/De novo (untested)" "" "" "0" "" "" "g.31780738_31796994del" "" "likely pathogenic (dominant)" "" "0000985968" "0" "70" "11" "31675779" "31685705" "del" "0" "00006" "PAX6_000880" "g.(?_31675779)_(31685705_31811302)del" "" "{PMID:Hall 2024:38050128}" "" "del SIMO" "deletion of SIMO enhancer" "Germline/De novo (untested)" "" "" "0" "" "" "g.(?_31654231)_(31664157_31789754)del" "" "likely pathogenic (dominant)" "" "0000985969" "1" "70" "11" "31786968" "31799611" "dup" "0" "00006" "PAX6_000878" "g.31786968_31799611dup" "" "{PMID:Hall 2024:38050128}" "" "g.31765420_31778063dup31780738_31796994del" "variant affects PAX6 and ELP4" "Germline/De novo (untested)" "" "" "0" "" "" "g.31765420_31778063dup" "" "likely pathogenic (dominant)" "" "0000998991" "0" "50" "11" "31812324" "31812324" "subst" "0" "01804" "PAX6_000893" "g.31812324T>G" "" "" "" "PAX6(NM_001258462.1):c.1159A>C (p.(Thr387Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998992" "0" "50" "11" "31812405" "31812405" "subst" "8.14943E-6" "01804" "PAX6_000894" "g.31812405G>C" "" "" "" "PAX6(NM_000280.4):c.1036C>G (p.(Pro346Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998993" "0" "90" "11" "31823108" "31823108" "subst" "0" "02327" "PAX6_000895" "g.31823108C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000998994" "0" "50" "11" "31823158" "31823158" "subst" "0" "01804" "PAX6_000896" "g.31823158C>G" "" "" "" "PAX6(NM_001604.5):c.350G>C (p.(Arg117Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014791" "0" "50" "11" "31816191" "31816191" "subst" "0" "02325" "PAX6_000833" "g.31816191C>A" "" "" "" "PAX6(NM_000280.4):c.669G>T (p.(Glu223Asp)), PAX6(NM_000280.6):c.669G>T (p.E223D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025968" "0" "50" "11" "31823225" "31823225" "subst" "0" "02325" "PAX6_000897" "g.31823225G>A" "" "" "" "PAX6(NM_000280.6):c.241C>T (p.P81S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025969" "0" "30" "11" "31824282" "31824282" "subst" "4.0815E-6" "01804" "PAX6_000898" "g.31824282G>C" "" "" "" "PAX6(NM_000280.4):c.111C>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001048178" "0" "10" "11" "31824380" "31824380" "subst" "0" "00006" "PAX6_000900" "g.31824380G>C" "" "{PMID:Plachy 2019:30753492}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.31802832G>C" "" "benign" "" "0001048193" "0" "10" "11" "31822370" "31822370" "subst" "0" "00006" "PAX6_000899" "g.31822370G>C" "" "{PMID:Plachy 2019:30753492}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.31800822G>C" "" "benign" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes PAX6 ## Count = 299 "{{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}}" "0000063645" "00023870" "99" "1267" "0" "1267" "0" "c.1267dup" "r.(?)" "p.(*423Leuext*36)" "13" "0000063646" "00023870" "99" "661" "0" "661" "0" "c.661C>T" "r.(?)" "p.(Gln221*)" "8" "0000063647" "00023870" "99" "33" "0" "33" "0" "c.33del" "r.(?)" "p.(Gly12Valfs*19)" "5" "0000063648" "00023870" "11" "1183" "43" "1183" "43" "c.1183+43T>G" "r.(=)" "p.(=)" "12i" "0000063649" "00023870" "99" "52" "0" "52" "0" "c.52G>A" "r.(?)" "p.(Gly18Arg)" "5" "0000063650" "00023870" "13" "766" "-12" "766" "-12" "c.766-12C>T" "r.(=)" "p.(=)" "9i" "0000063651" "00023870" "50" "142" "-89" "142" "-89" "c.142-89C>T" "r.(=)" "p.(=)" "5i" "0000063652" "00023870" "90" "163" "0" "163" "0" "c.163A>T" "r.(?)" "p.(Lys55*)" "6" "0000064767" "00023870" "70" "767" "0" "767" "0" "c.767T>C" "r.spl?" "p.(Val256Ala)" "10" "0000130124" "00023870" "90" "154" "0" "154" "0" "c.154T>C" "r.(?)" "p.(Cys52Arg)" "" "0000242773" "00023870" "90" "19" "0" "19" "0" "c.19G>T" "r.(?)" "p.(Gly7*)" "5" "0000246997" "00023870" "30" "943" "0" "943" "0" "c.943T>C" "r.(?)" "p.(=)" "" "0000253155" "00023870" "10" "1267" "0" "1267" "0" "c.1267T>A" "r.(?)" "p.(*423Lysext*14)" "" "0000276107" "00023870" "30" "7713" "0" "7713" "0" "c.*6444A>G" "r.(=)" "p.(=)" "" "0000296775" "00023870" "10" "766" "-12" "766" "-12" "c.766-12C>T" "r.(=)" "p.(=)" "" "0000298802" "00023870" "10" "766" "-12" "766" "-12" "c.766-12C>T" "r.(=)" "p.(=)" "" "0000300617" "00023870" "10" "327" "0" "327" "0" "c.327G>A" "r.(?)" "p.(=)" "" "0000305050" "00023870" "30" "10" "8" "10" "8" "c.10+8C>T" "r.(=)" "p.(=)" "" "0000305051" "00023870" "50" "977" "0" "977" "0" "c.977A>G" "r.(?)" "p.(Tyr326Cys)" "" "0000305052" "00023870" "30" "1137" "0" "1137" "0" "c.1137A>C" "r.(?)" "p.(=)" "" "0000305053" "00023870" "50" "1032" "170" "1032" "170" "c.1032+170A>T" "r.(=)" "p.(=)" "" "0000305054" "00023870" "50" "1240" "0" "1240" "0" "c.1240A>G" "r.(?)" "p.(Met414Val)" "" "0000305055" "00023870" "70" "353" "0" "353" "0" "c.353C>A" "r.(?)" "p.(Pro118Gln)" "" "0000305056" "00023870" "30" "528" "0" "528" "0" "c.528C>G" "r.(?)" "p.(=)" "" "0000305057" "00023870" "10" "766" "-12" "766" "-12" "c.766-12C>T" "r.(=)" "p.(=)" "" "0000305058" "00023870" "10" "1264" "0" "1264" "0" "c.1264C>A" "r.(?)" "p.(Gln422Lys)" "" "0000305059" "00023870" "10" "1266" "0" "1266" "0" "c.1266G>A" "r.(?)" "p.(=)" "" "0000305060" "00023870" "30" "916" "4" "916" "4" "c.916+4A>T" "r.spl?" "p.?" "" "0000322184" "00023870" "30" "7791" "0" "7791" "0" "c.*6522T>A" "r.(=)" "p.(=)" "" "0000322185" "00023870" "50" "979" "0" "979" "0" "c.979A>G" "r.(?)" "p.(Ser327Gly)" "" "0000322186" "00023870" "30" "917" "-7" "917" "-7" "c.917-7C>T" "r.(=)" "p.(=)" "" "0000322187" "00023870" "50" "712" "0" "712" "0" "c.712T>C" "r.(?)" "p.(Phe238Leu)" "" "0000322188" "00023870" "30" "358" "-7" "358" "-7" "c.358-7T>C" "r.(=)" "p.(=)" "" "0000341918" "00023870" "50" "383" "0" "383" "0" "c.383G>A" "r.(?)" "p.(Arg128His)" "" "0000342652" "00023870" "90" "949" "0" "949" "0" "c.949C>T" "r.(?)" "p.(Arg317*)" "" "0000345279" "00023870" "90" "681" "0" "681" "0" "c.681del" "r.(?)" "p.(Glu228SerfsTer16)" "" "0000346210" "00023870" "90" "151" "0" "151" "0" "c.151G>A" "r.(?)" "p.(Gly51Arg)" "" "0000349459" "00023870" "90" "973" "0" "973" "0" "c.973del" "r.(?)" "p.(Thr325ProfsTer40)" "" "0000438404" "00023870" "90" "112" "0" "112" "0" "c.112del" "r.(?)" "p.(Arg38Glyfs*16)" "6" "0000500085" "00023870" "90" "275" "0" "275" "0" "c.275G>A" "r.(?)" "p.(Arg92Gln)" "" "0000500086" "00023870" "90" "275" "0" "275" "0" "c.275G>A" "r.(?)" "p.(Arg92Gln)" "" "0000500087" "00023870" "90" "275" "0" "275" "0" "c.275G>A" "r.(?)" "p.(Arg92Gln)" "" "0000500088" "00023870" "90" "275" "0" "275" "0" "c.275G>A" "r.(?)" "p.(Arg92Gln)" "" "0000543755" "00023870" "10" "7773" "0" "7773" "0" "c.*6504C>G" "r.(=)" "p.(=)" "" "0000543756" "00023870" "10" "1287" "0" "1290" "0" "c.*18_*21del" "r.(=)" "p.(=)" "" "0000543757" "00023870" "10" "1288" "0" "1290" "0" "c.*19_*21del" "r.(=)" "p.(=)" "" "0000543758" "00023870" "10" "1289" "0" "1290" "0" "c.*20_*21del" "r.(=)" "p.(=)" "" "0000543759" "00023870" "10" "1290" "0" "1290" "0" "c.*21del" "r.(?)" "p.(=)" "" "0000543760" "00023870" "30" "1267" "0" "1267" "0" "c.1267T>A" "r.(?)" "p.(*423Lysext*14)" "" "0000543764" "00023870" "30" "1266" "0" "1266" "0" "c.1266G>A" "r.(?)" "p.(=)" "" "0000543766" "00023870" "30" "1264" "0" "1264" "0" "c.1264C>A" "r.(?)" "p.(Gln422Lys)" "" "0000543767" "00023870" "10" "1261" "0" "1261" "0" "c.1261T>A" "r.(?)" "p.(Leu421Ile)" "" "0000543768" "00023870" "30" "1259" "0" "1259" "0" "c.1259G>A" "r.(?)" "p.(Arg420Lys)" "" "0000543770" "00023870" "30" "1137" "0" "1137" "0" "c.1137A>C" "r.(?)" "p.(=)" "" "0000543772" "00023870" "10" "1032" "107" "1032" "107" "c.1032+107C>T" "r.(=)" "p.(=)" "" "0000543773" "00023870" "50" "1032" "101" "1032" "101" "c.1032+101G>A" "r.(=)" "p.(=)" "" "0000543774" "00023870" "30" "981" "0" "981" "0" "c.981C>T" "r.(?)" "p.(=)" "" "0000543775" "00023870" "30" "943" "0" "943" "0" "c.943T>C" "r.(?)" "p.(=)" "" "0000543777" "00023870" "50" "916" "4" "916" "4" "c.916+4A>T" "r.spl?" "p.?" "" "0000543779" "00023870" "30" "831" "0" "831" "0" "c.831G>A" "r.(?)" "p.(=)" "" "0000543780" "00023870" "30" "831" "0" "831" "0" "c.831G>A" "r.(?)" "p.(=)" "" "0000543781" "00023870" "10" "766" "-12" "766" "-12" "c.766-12C>T" "r.(=)" "p.(=)" "" "0000543782" "00023870" "10" "766" "-12" "766" "-12" "c.766-12C>T" "r.(=)" "p.(=)" "" "0000543783" "00023870" "30" "726" "0" "726" "0" "c.726A>G" "r.(?)" "p.(=)" "" "0000543784" "00023870" "30" "711" "0" "711" "0" "c.711G>A" "r.(?)" "p.(=)" "" "0000543785" "00023870" "30" "711" "0" "711" "0" "c.711G>A" "r.(?)" "p.(=)" "" "0000543786" "00023870" "30" "524" "-3" "524" "-3" "c.524-3C>T" "r.spl?" "p.?" "" "0000543787" "00023870" "30" "451" "0" "451" "0" "c.451G>C" "r.(?)" "p.(Gly151Arg)" "" "0000543788" "00023870" "50" "451" "0" "451" "0" "c.451G>A" "r.(?)" "p.(Gly151Arg)" "" "0000543789" "00023870" "30" "393" "0" "393" "0" "c.393T>C" "r.(?)" "p.(=)" "" "0000543790" "00023870" "30" "358" "-7" "358" "-7" "c.358-7T>C" "r.(=)" "p.(=)" "" "0000543791" "00023870" "30" "358" "-15" "358" "-5" "c.358-15_358-5del" "r.spl?" "p.?" "" "0000543792" "00023870" "10" "358" "-15" "358" "-5" "c.358-15_358-5del" "r.spl?" "p.?" "" "0000543793" "00023870" "30" "358" "-15" "358" "-5" "c.358-15_358-5del" "r.spl?" "p.?" "" "0000543795" "00023870" "90" "357" "0" "357" "0" "c.357C>A" "r.(?)" "p.(Ser119Arg)" "" "0000543796" "00023870" "10" "327" "0" "327" "0" "c.327G>A" "r.(?)" "p.(=)" "" "0000543797" "00023870" "30" "327" "0" "327" "0" "c.327G>A" "r.(?)" "p.(=)" "" "0000543798" "00023870" "50" "284" "0" "284" "0" "c.284C>T" "r.(?)" "p.(Pro95Leu)" "" "0000543800" "00023870" "30" "255" "0" "255" "0" "c.255C>T" "r.(?)" "p.(=)" "" "0000543801" "00023870" "90" "214" "0" "214" "0" "c.214G>A" "r.(?)" "p.(Gly72Ser)" "" "0000543802" "00023870" "30" "130" "0" "130" "0" "c.130C>A" "r.(?)" "p.(=)" "" "0000543803" "00023870" "30" "90" "0" "90" "0" "c.90A>G" "r.(?)" "p.(=)" "" "0000543804" "00023870" "30" "72" "0" "72" "0" "c.72C>T" "r.(?)" "p.(=)" "" "0000613323" "00023870" "50" "914" "0" "914" "0" "c.914C>T" "r.(?)" "p.(Pro305Leu)" "" "0000622622" "00023870" "30" "201" "0" "201" "0" "c.201A>G" "r.(?)" "p.(=)" "" "0000622623" "00023870" "10" "130" "0" "130" "0" "c.130C>A" "r.(?)" "p.(=)" "" "0000622624" "00023870" "50" "52" "0" "52" "0" "c.52G>C" "r.(?)" "p.(Gly18Arg)" "" "0000624932" "00023870" "70" "55" "0" "55" "0" "c.55C>T" "r.(?)" "p.(Arg19Trp)" "" "0000648234" "00023870" "90" "357" "1" "357" "1" "c.357+1G>A" "r.spl?" "p.?" "" "0000648235" "00023870" "30" "-129" "9" "-129" "9" "c.-129+9G>A" "r.(=)" "p.(=)" "" "0000656776" "00023870" "10" "1286" "0" "1290" "0" "c.*17_*21del" "r.(=)" "p.(=)" "" "0000656777" "00023870" "50" "1166" "0" "1166" "0" "c.1166C>T" "r.(?)" "p.(Ser389Leu)" "" "0000656778" "00023870" "50" "1032" "106" "1032" "106" "c.1032+106del" "r.(=)" "p.(=)" "" "0000660249" "00023870" "90" "307" "0" "307" "0" "c.307C>T" "r.(?)" "p.(Arg103*)" "" "0000669118" "00023870" "30" "-129" "9" "-129" "9" "c.-129+9G>A" "r.(=)" "p.(=)" "" "0000679171" "00023870" "90" "1033" "-2" "1033" "-2" "c.1033-2A>C" "r.spl?" "p.?" "" "0000679172" "00023870" "50" "950" "0" "950" "0" "c.950G>A" "r.(?)" "p.(Arg317Gln)" "" "0000679173" "00023870" "30" "765" "5" "765" "5" "c.765+5C>T" "r.spl?" "p.?" "" "0000679174" "00023870" "30" "142" "-99" "142" "-99" "c.142-99A>G" "r.(=)" "p.(=)" "" "0000683334" "00023870" "70" "718" "0" "718" "0" "c.718C>T" "r.(?)" "p.(Arg240*)" "" "0000685336" "00023870" "90" "1545" "1" "1545" "1" "c.1545+1G>C" "r.spl" "p.?" "" "0000685337" "00023870" "90" "10" "1" "10" "1" "c.10+1G>C" "r.spl" "p.?" "" "0000691049" "00023870" "90" "-52" "1" "-52" "1" "c.-52+1G>A" "r.spl?" "p.?" "" "0000698030" "00023870" "90" "214" "0" "214" "0" "c.214G>C" "r.(?)" "p.(Gly72Arg)" "6" "0000698031" "00023870" "90" "112" "0" "112" "0" "c.112C>G" "r.(?)" "p.(Arg38Gly)" "5" "0000723412" "00023870" "30" "1267" "0" "1267" "0" "c.1267T>A" "r.(?)" "p.(*423Lysext*14)" "" "0000723413" "00023870" "10" "1266" "0" "1267" "0" "c.1266_1267insAAA" "r.(?)" "p.(*423Lysext*1)" "" "0000723414" "00023870" "10" "1266" "0" "1267" "0" "c.1266_1267insAAAAAA" "r.(?)" "p.(*423Lysext*2)" "" "0000723415" "00023870" "30" "1032" "8" "1032" "8" "c.1032+8C>T" "r.(=)" "p.(=)" "" "0000723416" "00023870" "50" "916" "4" "916" "4" "c.916+4A>T" "r.spl?" "p.?" "" "0000723417" "00023870" "90" "718" "0" "718" "0" "c.718C>T" "r.(?)" "p.(Arg240*)" "" "0000723418" "00023870" "50" "535" "0" "535" "0" "c.535C>A" "r.(?)" "p.(Gln179Lys)" "" "0000723419" "00023870" "30" "458" "0" "458" "0" "c.458C>T" "r.(?)" "p.(Thr153Ile)" "" "0000723420" "00023870" "10" "393" "0" "393" "0" "c.393T>C" "r.(?)" "p.(=)" "" "0000723421" "00023870" "50" "191" "0" "191" "0" "c.191G>T" "r.(?)" "p.(Gly64Val)" "" "0000723422" "00023870" "90" "80" "0" "80" "0" "c.80del" "r.(?)" "p.(Gln27Argfs*4)" "" "0000723423" "00023870" "50" "26" "0" "26" "0" "c.26A>T" "r.(?)" "p.(Asn9Ile)" "" "0000730892" "00023870" "90" "622" "0" "622" "0" "c.622C>T" "r.(?)" "p.(Arg208Trp)" "" "0000730973" "00023870" "90" "1268" "0" "1268" "0" "c.1268A>T" "r.(?)" "p.(*423Leuext*14)" "" "0000731325" "00023870" "70" "113" "0" "113" "0" "c.113G>C" "r.(?)" "p.(Arg38Pro)" "" "0000731326" "00023870" "70" "622" "0" "622" "0" "c.622C>T" "r.(?)" "p.(Arg208Trp)" "" "0000731327" "00023870" "70" "782" "0" "782" "0" "c.782G>T" "r.(?)" "p.(Arg261Leu)" "" "0000731328" "00023870" "70" "1088" "0" "1088" "0" "c.1088C>A" "r.(?)" "p.(Ser363*)" "" "0000733163" "00023870" "70" "227" "0" "227" "0" "c.227C>T" "r.(?)" "p.(Pro76Leu)" "" "0000735638" "00023870" "90" "11" "-1" "1270" "0" "c.(10+1_11-1)_(*1_?)del" "r.?" "p.?" "" "0000780174" "00023870" "70" "113" "0" "113" "0" "c.113G>A" "r.(?)" "p.(Arg38Gln)" "" "0000792398" "00023870" "70" "113" "0" "113" "0" "c.113G>C" "r.(?)" "p.(Arg38Pro)" "" "0000794219" "00023870" "70" "1183" "2" "1183" "2" "c.1183+2T>A" "r.spl?" "p.?" "" "0000794688" "00023870" "70" "10" "5" "10" "5" "c.10+5G>C" "r.spl?" "p.?" "" "0000797397" "00023870" "70" "718" "0" "718" "0" "c.718C>T" "r.(?)" "p.(Arg240*)" "" "0000798361" "00023870" "70" "383" "0" "383" "0" "c.383G>A" "r.(?)" "p.(Arg128His)" "" "0000798362" "00023870" "70" "1088" "0" "1088" "0" "c.1088C>A" "r.(?)" "p.(Ser363*)" "" "0000798363" "00023870" "70" "113" "0" "113" "0" "c.113G>C" "r.(?)" "p.(Arg38Pro)" "" "0000798364" "00023870" "70" "782" "0" "782" "0" "c.782G>T" "r.(?)" "p.(Arg261Leu)" "" "0000798365" "00023870" "70" "607" "0" "607" "0" "c.607C>T" "r.(?)" "p.(Arg203*)" "" "0000798366" "00023870" "70" "622" "0" "622" "0" "c.622C>T" "r.(?)" "p.(Arg208Trp)" "" "0000798367" "00023870" "70" "-133" "0" "-132" "0" "c.-133_-132del" "r.?" "p.?" "" "0000798368" "00023870" "70" "397" "0" "397" "0" "c.397G>T" "r.(?)" "p.(Glu133*)" "" "0000798369" "00023870" "70" "702" "0" "702" "0" "c.702T>A" "r.(?)" "p.(Tyr234*)" "" "0000798370" "00023870" "70" "362" "0" "362" "0" "c.362C>T" "r.(?)" "p.(Ser121Leu)" "" "0000798371" "00023870" "70" "607" "0" "607" "0" "c.607C>T" "r.(?)" "p.(Arg203*)" "" "0000798373" "00023870" "70" "702" "0" "702" "0" "c.702T>A" "r.(?)" "p.(Tyr234*)" "" "0000798374" "00023870" "70" "358" "0" "358" "0" "c.358G>C" "r.(?)" "p.(Val120Leu)" "" "0000798375" "00023870" "70" "357" "0" "357" "0" "c.357C>A" "r.(?)" "p.(Ser119Arg)" "" "0000798376" "00023870" "70" "683" "-5" "683" "-5" "c.683-5T>C" "r.spl?" "p.?" "" "0000805085" "00023870" "30" "1290" "0" "1290" "0" "c.*21del" "r.(?)" "p.(=)" "" "0000805086" "00023870" "50" "1012" "0" "1012" "0" "c.1012G>A" "r.(?)" "p.(Ala338Thr)" "" "0000805087" "00023870" "90" "370" "0" "373" "0" "c.370_373del" "r.(?)" "p.(Asn124Glufs*22)" "" "0000805088" "00023870" "50" "191" "0" "191" "0" "c.191G>C" "r.(?)" "p.(Gly64Ala)" "" "0000805089" "00023870" "30" "-134" "0" "-134" "0" "c.-134A>T" "r.(?)" "p.(=)" "" "0000811358" "00023870" "70" "11" "-2" "11" "-2" "c.11-2A>G" "r.spl" "p.(?)" "" "0000812518" "00023870" "70" "120" "0" "120" "0" "c.120C>A" "r.(?)" "p.(Cys40*)" "" "0000812531" "00023870" "90" "112" "0" "112" "0" "c.112del" "r.(?)" "p.(Arg38Glyfs*16)" "" "0000812592" "00023870" "90" "357" "1" "357" "1" "c.357+1G>A" "r.spl" "p.(?)" "" "0000812619" "00023870" "90" "1249" "0" "1249" "0" "c.1249T>A" "r.(?)" "p.(Tyr417Asn)" "" "0000812648" "00023870" "90" "1267" "0" "1268" "0" "c.1267_1268dup" "r.(?)" "p.(*423Tyrext*102)" "" "0000812740" "00023870" "70" "107" "0" "107" "0" "c.107G>T" "r.(?)" "p.(Gly36Val)" "" "0000812752" "00023870" "90" "1033" "-1" "1033" "-1" "c.1033-1G>A" "r.spl" "p.(?)" "" "0000812763" "00023870" "70" "275" "0" "275" "0" "c.275G>A" "r.(?)" "p.(Arg92Gln)" "" "0000812822" "00023870" "90" "514" "0" "522" "0" "c.514_522del" "r.(?)" "p.(Pro172_Gln174del)" "" "0000812825" "00023870" "70" "1268" "0" "1268" "0" "c.1268A>T" "r.(?)" "p.(*423Leuext*14)" "" "0000812847" "00023870" "90" "773" "0" "780" "0" "c.773_780del" "r.(?)" "p.(Phe258Serfs*23)" "" "0000814429" "00023870" "90" "949" "0" "949" "0" "c.949C>T" "r.(?)" "p.(Arg317*)" "" "0000817701" "00023870" "70" "408" "0" "409" "0" "c.408_409dup" "r.(?)" "p.(Met137ArgfsTer11)" "" "0000821014" "00023870" "70" "787" "0" "787" "0" "c.787G>A" "r.(?)" "p.(Ala263Thr)" "" "0000821020" "00023870" "70" "916" "0" "916" "0" "c.916G>A" "r.spl" "p.(Val306Ile)" "" "0000822963" "00023870" "70" "107" "0" "114" "0" "c.107_114dup" "r.(?)" "p.(Pro39Glyfs*18)" "" "0000824260" "00023870" "90" "2" "0" "2" "0" "c.2T>G" "r.(?)" "p.(Met1?)" "" "0000824270" "00023870" "90" "718" "0" "718" "0" "c.718C>T" "r.(?)" "p.(Arg240*)" "" "0000824276" "00023870" "90" "1184" "-1" "1184" "-1" "c.1184-1G>C" "r.spl" "p.?" "" "0000836569" "00023870" "90" "233" "0" "241" "0" "c.233_241del" "r.(?)" "p.(Val78_Pro81delinsAla)" "" "0000836570" "00023870" "90" "233" "0" "233" "0" "c.233T>G" "r.(?)" "p.(Val78Gly)" "" "0000836571" "00023870" "90" "383" "0" "383" "0" "c.383G>A" "r.(?)" "p.(Arg128His)" "" "0000836572" "00023870" "90" "1268" "0" "1268" "0" "c.1268A>T" "r.(?)" "p.(Ter423LeuextTer14)" "" "0000836573" "00023870" "90" "1268" "0" "1268" "0" "c.1268A>T" "r.(?)" "p.(Ter423LeuextTer14)" "" "0000836574" "00023870" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000836575" "00023870" "90" "357" "0" "357" "0" "c.357C>A" "r.(?)" "p.(Ser119Arg)" "" "0000836576" "00023870" "90" "1268" "0" "1268" "0" "c.1268A>T" "r.(?)" "p.(Ter423LeuextTer14)" "" "0000836577" "00023870" "90" "1268" "0" "1268" "0" "c.1268A>T" "r.spl" "p.(Ter423LeuextTer14)" "" "0000836578" "00023870" "90" "154" "0" "154" "0" "c.154T>C" "r.(?)" "p.(Cys52Arg)" "" "0000847408" "00023870" "70" "474" "0" "474" "0" "c.474C>T" "r.(?)" "p.(=)" "8" "0000852881" "00023870" "30" "423" "0" "423" "0" "c.423C>G" "r.(?)" "p.(=)" "" "0000852882" "00023870" "30" "142" "-95" "142" "-95" "c.142-95C>T" "r.(=)" "p.(=)" "" "0000852883" "00023870" "50" "62" "0" "62" "0" "c.62T>C" "r.(?)" "p.(Leu21Pro)" "" "0000852884" "00023870" "10" "-129" "9" "-129" "9" "c.-129+9G>A" "r.(=)" "p.(=)" "" "0000862506" "00023870" "30" "1194" "0" "1194" "0" "c.1194C>T" "r.(?)" "p.(=)" "" "0000862507" "00023870" "30" "765" "5" "765" "5" "c.765+5C>T" "r.spl?" "p.?" "" "0000862508" "00023870" "30" "711" "0" "711" "0" "c.711G>A" "r.(?)" "p.(=)" "" "0000862509" "00023870" "30" "682" "5" "682" "5" "c.682+5T>C" "r.spl?" "p.?" "" "0000862510" "00023870" "50" "669" "0" "669" "0" "c.669G>T" "r.(?)" "p.(Glu223Asp)" "" "0000862511" "00023870" "30" "423" "0" "423" "0" "c.423C>G" "r.(?)" "p.(=)" "" "0000862512" "00023870" "30" "421" "0" "421" "0" "c.421G>A" "r.(?)" "p.(Gly141Ser)" "" "0000862513" "00023870" "50" "142" "-131" "142" "-131" "c.142-131T>A" "r.(=)" "p.(=)" "" "0000862514" "00023870" "30" "141" "11" "141" "11" "c.141+11C>G" "r.(=)" "p.(=)" "" "0000862515" "00023870" "30" "130" "0" "130" "0" "c.130C>A" "r.(?)" "p.(=)" "" "0000862516" "00023870" "90" "112" "0" "116" "0" "c.112_116del" "r.(?)" "p.(Arg38Valfs*16)" "" "0000873456" "00023870" "70" "120" "0" "120" "0" "c.120C>A" "r.(?)" "p.(Cys40*)" "" "0000873527" "00023870" "70" "775" "0" "775" "0" "c.775dup" "r.(?)" "p.(Ser259Phefs*2)" "" "0000881232" "00023870" "90" "112" "0" "112" "0" "c.112C>G" "r.(?)" "p.(Arg38Gly)" "" "0000889799" "00023870" "30" "1194" "0" "1194" "0" "c.1194C>T" "r.(?)" "p.(=)" "" "0000889800" "00023870" "30" "1044" "0" "1044" "0" "c.1044C>G" "r.(?)" "p.(=)" "" "0000889801" "00023870" "90" "781" "0" "781" "0" "c.781C>T" "r.(?)" "p.(Arg261*)" "" "0000889803" "00023870" "70" "157" "0" "157" "0" "c.157G>A" "r.(?)" "p.(Val53Met)" "" "0000889804" "00023870" "50" "142" "-91" "142" "-91" "c.142-91A>G" "r.(=)" "p.(=)" "" "0000889805" "00023870" "50" "142" "-94" "142" "-94" "c.142-94G>A" "r.(=)" "p.(=)" "" "0000913574" "00023870" "50" "1020" "0" "1020" "0" "c.1020C>G" "r.(?)" "p.(Asn340Lys)" "" "0000921499" "00023870" "90" "443" "0" "444" "0" "c.443_444insA" "r.(?)" "p.(Met148IlefsTer52)" "" "0000921500" "00023870" "90" "443" "0" "444" "0" "c.443_444insA" "r.(?)" "p.(Met148IlefsTer52)" "" "0000921519" "00023870" "90" "753" "0" "753" "0" "c.753del" "r.(?)" "p.(Ala252GlnfsTer20)" "" "0000921521" "00023870" "90" "300" "0" "300" "0" "c.300G>A" "r.(?)" "p.(Trp100Ter)" "" "0000921542" "00023870" "90" "325" "0" "325" "0" "c.325G>T" "r.(?)" "p.(Glu109Ter)" "" "0000921806" "00023870" "90" "77" "0" "77" "0" "c.77G>A" "r.(?)" "p.(Arg26Gln)" "" "0000921807" "00023870" "70" "177" "0" "177" "0" "c.177G>T" "r.(?)" "p.(Arg59Ser)" "" "0000921849" "00023870" "90" "1211" "0" "1220" "0" "c.1211_1220del" "r.(?)" "p.(Pro404LeufsTer118)" "" "0000921875" "00023870" "90" "371" "0" "371" "0" "c.371A>G" "r.(?)" "p.(Asn124Ser)" "" "0000921880" "00023870" "90" "110" "0" "110" "0" "c.110del" "r.(?)" "p.(Arg38GlyfsTer16)" "" "0000925375" "00023870" "30" "1393" "0" "1393" "0" "c.*124C>T" "r.(=)" "p.(=)" "" "0000925376" "00023870" "50" "233" "0" "233" "0" "c.233T>C" "r.(?)" "p.(Val78Ala)" "" "0000925377" "00023870" "90" "-128" "-2" "-128" "-2" "c.-128-2del" "r.spl?" "p.?" "" "0000925378" "00023870" "30" "-128" "-7" "-128" "-7" "c.-128-7G>T" "r.(=)" "p.(=)" "" "0000929851" "00023870" "10" "766" "-12" "766" "-12" "c.766-12C>T" "r.(=)" "p.(=)" "" "0000929852" "00023870" "70" "765" "0" "765" "0" "c.765G>A" "r.(?)" "p.(=)" "" "0000929853" "00023870" "90" "607" "0" "607" "0" "c.607C>T" "r.(?)" "p.(Arg203*)" "" "0000929854" "00023870" "90" "52" "0" "52" "0" "c.52G>A" "r.(?)" "p.(Gly18Arg)" "" "0000929855" "00023870" "30" "-129" "9" "-129" "9" "c.-129+9G>A" "r.(=)" "p.(=)" "" "0000954056" "00023870" "70" "383" "0" "383" "0" "c.383G>A" "r.(?)" "p.(Arg128His)" "" "0000954057" "00023870" "90" "607" "0" "607" "0" "c.607C>T" "r.(?)" "p.(Arg203Ter)" "" "0000954058" "00023870" "90" "397" "0" "397" "0" "c.397G>T" "r.(?)" "p.(Glu133Ter)" "" "0000954059" "00023870" "90" "702" "0" "702" "0" "c.702T>A" "r.(?)" "p.(Tyr234Ter)" "" "0000954060" "00023870" "70" "362" "0" "362" "0" "c.362C>T" "r.(?)" "p.(Ser121Leu)" "" "0000954061" "00023870" "90" "607" "0" "607" "0" "c.607C>T" "r.(?)" "p.(Arg203Ter)" "" "0000954062" "00023870" "90" "702" "0" "702" "0" "c.702T>A" "r.(?)" "p.(Tyr234Ter)" "" "0000954113" "00023870" "90" "113" "0" "113" "0" "c.113G>A" "r.(?)" "p.(Arg38Gln)" "" "0000954142" "00023870" "90" "131" "0" "131" "0" "c.131G>C" "r.(?)" "p.(Arg44Pro)" "" "0000954782" "00023870" "70" "52" "0" "52" "0" "c.52G>A" "r.(?)" "p.(Gly18Arg)" "" "0000954783" "00023870" "50" "113" "0" "113" "0" "c.113G>C" "r.(?)" "p.(Arg38Pro)" "" "0000954784" "00023870" "90" "924" "0" "924" "0" "c.924del" "r.(?)" "p.(Phe309SerfsTer56)" "" "0000954806" "00023870" "90" "1077" "0" "1077" "0" "c.1077del" "r.(?)" "p.(Thr360ProfsTer5)" "" "0000954812" "00023870" "70" "197" "0" "197" "0" "c.197T>A" "r.(?)" "p.(Ile66Asn)" "" "0000954858" "00023870" "90" "76" "0" "76" "0" "c.76C>T" "r.(?)" "p.(Arg26Trp)" "" "0000955024" "00023870" "90" "52" "0" "52" "0" "c.52G>A" "r.(?)" "p.(Gly18Arg)" "" "0000957372" "00023870" "90" "106" "0" "106" "0" "c.106del" "r.(?)" "p.(Ala37Profs*17)" "" "0000957373" "00023870" "90" "106" "0" "106" "0" "c.106del" "r.(?)" "p.(Ala37Profs*17)" "" "0000957378" "00023870" "90" "916" "1" "916" "1" "c.916+1G>C" "r.spl?" "p.?" "" "0000957379" "00023870" "90" "916" "1" "916" "1" "c.916+1G>C" "r.spl?" "p.?" "" "0000957380" "00023870" "90" "916" "1" "916" "1" "c.916+1G>C" "r.spl?" "p.?" "" "0000957381" "00023870" "90" "916" "1" "916" "1" "c.916+1G>C" "r.spl?" "p.?" "" "0000957395" "00023870" "90" "307" "0" "307" "0" "c.307C>T" "r.(?)" "p.(Arg103*)" "" "0000957396" "00023870" "90" "307" "0" "307" "0" "c.307C>T" "r.(?)" "p.(Arg103*)" "" "0000957430" "00023870" "90" "113" "0" "113" "0" "c.113G>C" "r.(?)" "p.(Arg38Pro)" "" "0000957431" "00023870" "90" "113" "0" "113" "0" "c.113G>C" "r.(?)" "p.(Arg38Pro)" "" "0000957438" "00023870" "90" "1124" "0" "1124" "0" "c.1124C>A" "r.(?)" "p.(Pro375Gln)" "" "0000957439" "00023870" "90" "1124" "0" "1124" "0" "c.1124C>A" "r.(?)" "p.(Pro375Gln)" "" "0000957442" "00023870" "90" "110" "0" "110" "0" "c.110del" "r.(?)" "p.(Arg38Glyfs*16)" "" "0000957446" "00023870" "90" "923" "0" "923" "0" "c.923del" "r.(?)" "p.(Phe309Serfs*56)" "" "0000957457" "00023870" "70" "462" "0" "462" "0" "c.462del" "r.(?)" "p.(Ser155Alafs*52)" "" "0000957458" "00023870" "70" "462" "0" "462" "0" "c.462del" "r.(?)" "p.(Ser155Alafs*52)" "" "0000957473" "00023870" "70" "52" "0" "52" "0" "c.52G>A" "r.(?)" "p.(Gly18Arg)" "" "0000957474" "00023870" "70" "52" "0" "52" "0" "c.52G>A" "r.(?)" "p.(Gly18Arg)" "" "0000957494" "00023870" "70" "88" "0" "88" "0" "c.88del" "r.(?)" "p.(Val30*)" "" "0000957495" "00023870" "70" "88" "0" "88" "0" "c.88del" "r.(?)" "p.(Val30*)" "" "0000966330" "00023870" "10" "1289" "0" "1290" "0" "c.*20_*21del" "r.(=)" "p.(=)" "" "0000966332" "00023870" "30" "1032" "69" "1032" "69" "c.1032+69G>A" "r.(=)" "p.(=)" "" "0000966333" "00023870" "50" "962" "0" "962" "0" "c.962C>G" "r.(?)" "p.(Ala321Gly)" "" "0000966338" "00023870" "50" "649" "0" "649" "0" "c.649T>C" "r.(?)" "p.(Phe217Leu)" "" "0000966339" "00023870" "90" "183" "0" "183" "0" "c.183C>G" "r.(?)" "p.(Tyr61*)" "" "0000966340" "00023870" "10" "142" "-83" "142" "-83" "c.142-83A>G" "r.(=)" "p.(=)" "" "0000979547" "00023870" "30" "141" "55" "141" "55" "c.141+55G>A" "r.(=)" "p.(=)" "" "0000979548" "00023870" "30" "-128" "-358" "-128" "-357" "c.-128-358_-128-357insAC" "r.(=)" "p.(=)" "" "0000985946" "00023870" "90" "842" "0" "843" "0" "c.842_843insGT" "r.(?)" "p.(Pro282TyrfsTer84)" "" "0000985947" "00023870" "70" "-52" "1" "-52" "1" "c.-52+1G>C" "r.spl" "p.?" "3i" "0000985948" "00023870" "70" "-52" "1" "-52" "1" "c.-52+1G>T" "r.spl" "p.?" "3i" "0000985949" "00023870" "70" "-128" "-2" "-128" "-2" "c.-128-2del" "r.spl" "p.?" "2i" "0000985950" "00023870" "90" "-128" "-2" "-128" "-2" "c.-128-2del" "r.spl" "p.?" "2i" "0000985951" "00023870" "70" "682" "68" "682" "68" "c.682+68C>G" "r.(683_1032del)" "p.(Glu228fs)" "8i" "0000985952" "00023870" "70" "357" "334" "357" "334" "c.357+334G>A" "r.spl" "p.?" "6i" "0000985953" "00023870" "70" "524" "-101" "549" "0" "c.524-101_549del" "r.?" "p.?" "7i_8" "0000985954" "00023870" "70" "" "0" "" "0" "c.-533_*5142{0}" "r.0" "p.0" "_1_13_" "0000985955" "00023870" "70" "" "0" "" "0" "c.524-1228_*12912del" "r.?" "p.?" "8i_13_" "0000985956" "00023870" "70" "142" "-394" "402" "0" "c.142-394_402del" "r.?" "p.?" "5i_7i" "0000985957" "00023870" "70" "" "0" "" "0" "c.11-907_*5142{0}" "r.?" "p.?" "4i_13_" "0000985958" "00023870" "70" "" "0" "" "0" "-" "r.?" "p.?" "" "0000985959" "00023870" "70" "" "0" "" "0" "-" "r.?" "p.?" "" "0000985960" "00023870" "70" "" "0" "" "0" "-" "r.?" "p.?" "" "0000985961" "00023870" "70" "" "0" "" "0" "c.1032+734_*5142{1}" "r.?" "p.?" "11i_13_" "0000985962" "00023870" "70" "" "0" "" "0" "c.-533_*5142inv{1}" "r.0?" "p.0?" "_1_13_" "0000985963" "00023870" "70" "-533" "0" "10" "902" "c.-533_10+902inv{1}" "r.0?" "p.0?" "_1_4i" "0000985964" "00023870" "70" "0" "0" "0" "0" "c.524-2206_*5142{0}" "r.?" "p.?" "6i_13_" "0000985968" "00023870" "70" "" "0" "" "0" "c.*180_*5142{0}" "r.?" "p.?" "13_" "0000985969" "00023870" "70" "0" "0" "0" "0" "-" "r.?" "p.?" "" "0000998991" "00023870" "50" "1117" "0" "1117" "0" "c.1117A>C" "r.(?)" "p.(Thr373Pro)" "" "0000998992" "00023870" "50" "1036" "0" "1036" "0" "c.1036C>G" "r.(?)" "p.(Pro346Ala)" "" "0000998993" "00023870" "90" "357" "1" "357" "1" "c.357+1G>C" "r.spl?" "p.?" "" "0000998994" "00023870" "50" "308" "0" "308" "0" "c.308G>C" "r.(?)" "p.(Arg103Pro)" "" "0001014791" "00023870" "50" "669" "0" "669" "0" "c.669G>T" "r.(?)" "p.(Glu223Asp)" "" "0001025968" "00023870" "50" "241" "0" "241" "0" "c.241C>T" "r.(?)" "p.(Pro81Ser)" "" "0001025969" "00023870" "30" "111" "0" "111" "0" "c.111C>G" "r.(?)" "p.(=)" "" "0001048178" "00023870" "10" "13" "0" "13" "0" "c.13C>G" "r.(?)" "p.(His5Asp)" "" "0001048193" "00023870" "10" "392" "0" "392" "0" "c.392C>G" "r.(?)" "p.(Ala131Gly)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 157 "{{screeningid}}" "{{variantid}}" "0000036520" "0000063645" "0000036521" "0000063646" "0000036522" "0000063647" "0000036523" "0000063648" "0000036524" "0000063649" "0000036525" "0000063650" "0000036526" "0000063651" "0000036527" "0000063652" "0000037619" "0000064767" "0000081038" "0000130124" "0000147982" "0000242773" "0000208524" "0000438404" "0000247239" "0000500085" "0000247240" "0000500086" "0000247241" "0000500087" "0000247242" "0000500088" "0000271078" "0000624932" "0000291545" "0000648234" "0000291546" "0000648235" "0000297643" "0000660249" "0000305430" "0000669118" "0000308900" "0000683334" "0000310425" "0000685336" "0000310426" "0000685337" "0000315923" "0000698030" "0000315924" "0000698031" "0000333321" "0000730892" "0000333399" "0000730973" "0000333623" "0000731325" "0000333624" "0000731326" "0000333625" "0000731327" "0000333626" "0000731328" "0000335154" "0000733163" "0000336363" "0000735638" "0000372890" "0000780174" "0000379261" "0000792398" "0000380965" "0000794219" "0000381292" "0000794688" "0000383336" "0000797397" "0000383952" "0000798361" "0000383953" "0000798362" "0000383954" "0000798363" "0000383955" "0000798364" "0000383956" "0000798365" "0000383957" "0000798366" "0000383958" "0000798367" "0000383959" "0000798368" "0000383960" "0000798369" "0000383961" "0000798370" "0000383962" "0000798371" "0000383963" "0000798373" "0000383964" "0000798374" "0000383965" "0000798375" "0000383966" "0000798376" "0000384612" "0000811358" "0000385460" "0000812518" "0000385470" "0000812531" "0000385516" "0000812592" "0000385540" "0000812619" "0000385563" "0000812648" "0000385643" "0000812740" "0000385653" "0000812752" "0000385662" "0000812763" "0000385711" "0000812822" "0000385713" "0000812825" "0000385732" "0000812847" "0000386749" "0000814429" "0000388903" "0000817701" "0000391278" "0000821014" "0000391284" "0000821020" "0000392620" "0000822963" "0000393498" "0000824260" "0000393508" "0000824270" "0000393514" "0000824276" "0000402425" "0000836569" "0000402426" "0000836570" "0000402427" "0000836571" "0000402428" "0000836572" "0000402429" "0000836573" "0000402430" "0000836574" "0000402431" "0000836575" "0000402432" "0000836576" "0000402433" "0000836577" "0000402434" "0000836578" "0000410146" "0000847408" "0000415625" "0000873456" "0000415676" "0000873527" "0000420873" "0000881232" "0000435490" "0000921499" "0000435491" "0000921500" "0000435506" "0000921519" "0000435508" "0000921521" "0000435542" "0000921542" "0000435645" "0000921806" "0000435646" "0000921807" "0000435676" "0000921849" "0000435702" "0000921875" "0000435707" "0000921880" "0000445871" "0000954056" "0000445872" "0000954057" "0000445873" "0000954058" "0000445874" "0000954059" "0000445875" "0000954060" "0000445876" "0000954061" "0000445877" "0000954062" "0000445916" "0000954113" "0000445933" "0000954142" "0000446439" "0000954782" "0000446440" "0000954783" "0000446441" "0000954784" "0000446462" "0000954806" "0000446470" "0000954812" "0000446514" "0000954858" "0000446665" "0000955024" "0000447992" "0000957372" "0000447993" "0000957373" "0000447998" "0000957378" "0000447999" "0000957379" "0000448000" "0000957380" "0000448001" "0000957381" "0000448015" "0000957395" "0000448016" "0000957396" "0000448050" "0000957430" "0000448051" "0000957431" "0000448058" "0000957438" "0000448059" "0000957439" "0000448062" "0000957442" "0000448066" "0000957446" "0000448077" "0000957457" "0000448078" "0000957458" "0000448093" "0000957473" "0000448094" "0000957474" "0000448114" "0000957494" "0000448115" "0000957495" "0000452007" "0000985946" "0000452008" "0000985947" "0000452009" "0000985948" "0000452010" "0000985949" "0000452011" "0000985950" "0000452012" "0000985951" "0000452013" "0000985952" "0000452014" "0000985953" "0000452015" "0000985954" "0000452016" "0000985955" "0000452017" "0000985956" "0000452018" "0000985957" "0000452019" "0000985958" "0000452020" "0000985959" "0000452021" "0000985960" "0000452022" "0000985961" "0000452023" "0000985962" "0000452024" "0000985963" "0000452025" "0000985964" "0000452025" "0000985969" "0000452029" "0000985968" "0000468356" "0001048178" "0000468356" "0001048193"