### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = NYX) # 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}}" "NYX" "nyctalopin" "X" "p11.4" "unknown" "NG_009112.1" "UD_132118359640" "" "http://www.LOVD.nl/NYX" "" "1" "8082" "60506" "300278" "1" "1" "1" "1" "This database is one of the \"Eye disease\" gene variant databases.
Establishment of this gene variant database (LSDB) was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "g" "http://databases.lovd.nl/shared/refseq/NYX_NM_022567.2_codingDNA.html" "1" "" "This database is one of the \"Eye disease\" gene variant databases." "-1" "" "-1" "00000" "2012-02-13 00:00:00" "00006" "2015-02-28 12:19:34" "00000" "2025-05-05 21:14:00" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000375" "NYX" "nyctalopin" "001" "NM_022567.2" "" "NP_072089.1" "" "" "" "-430" "2199" "1446" "41306713" "41334905" "00000" "2012-09-13 12:10:32" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 9 "{{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" "" "" "00112" "RP" "retinitis pigmentosa (RP)" "" "268000" "" "" "" "00001" "2013-02-21 17:12:36" "00006" "2021-01-18 09:53:26" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01980" "CSNBO1" "Oguchi disease 1 (night blindness, stationary, congenitial, Oguchi type 1 (CSNBO-1))" "AR" "258100" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02252" "CSNB1A" "blindness, night, stationary, congenital, type 1A (CSNB-1A)" "XLR" "310500" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "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" "05130" "CSNB" "blindness, night, stationary, congenital (CSNB)" "" "" "" "" "" "00006" "2016-02-03 23:24:36" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "NYX" "02252" ## Individuals ## Do not remove or alter this header ## ## Count = 248 "{{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}}" "00000208" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00033154" "" "" "" "1" "" "00229" "" "" "F" "" "" "" "0" "" "" "" "" "00144271" "" "" "" "1" "" "01780" "{PMID:Xu 2014:24938718}" "onset early childhood" "M" "no" "China" "" "0" "" "" "Chinese" "" "00308617" "" "" "" "1" "" "00004" "{PMID:Holtan 2020:31429209}" "1 homozygous patient" "" "" "Norway" "" "0" "" "" "" "" "00309261" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" "" "00309262" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" "" "00309263" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" "" "00309264" "" "" "" "2" "" "00004" "{PMID:Sharon 2019:31456290}" "2 IRD families" "" "" "Israel" "" "0" "" "" "" "" "00309265" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" "" "00309266" "" "" "" "4" "" "00004" "{PMID:Sharon 2019:31456290}" "4 IRD families" "" "" "Israel" "" "0" "" "" "" "" "00309267" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" "" "00319840" "" "" "" "1" "" "00008" "{PMID:Zito 2003:12552565}" "" "" "" "" "" "0" "" "" "" "" "00319841" "" "" "" "1" "" "00008" "{PMID:Zito 2003:12552565}" "" "" "" "" "" "0" "" "" "" "" "00319842" "" "" "" "1" "" "00008" "{PMID:Zito 2003:12552565}" "" "" "" "" "" "0" "" "" "" "" "00319843" "" "" "" "1" "" "00008" "{PMID:Zito 2003:12552565}" "" "" "" "" "" "0" "" "" "" "" "00319844" "" "" "" "1" "" "00008" "{PMID:Zito 2003:12552565}" "" "" "" "" "" "0" "" "" "" "" "00319845" "" "" "" "1" "" "00008" "{PMID:Zito 2003:12552565}" "" "" "" "" "" "0" "" "" "" "" "00319846" "" "" "" "1" "" "00008" "{PMID:Zito 2003:12552565}" "" "" "" "" "" "0" "" "" "" "" "00319847" "" "" "" "1" "" "00008" "{PMID:Zito 2003:12552565}" "" "" "" "" "" "0" "" "" "" "" "00319848" "" "" "" "1" "" "00008" "{PMID:Zito 2003:12552565}" "" "" "" "" "" "0" "" "" "" "" "00319849" "" "" "" "1" "" "00008" "{PMID:Zito 2003:12552565}" "" "" "" "" "" "0" "" "" "" "" "00326676" "" "" "" "1" "" "00008" "{PMID:Zeitz 2005:15761389}" "" "" "" "Netherlands" "" "0" "" "" "Dutch" "" "00326677" "" "" "" "1" "" "00008" "{PMID:Zeitz 2005:15761389}" "" "" "" "Netherlands" "" "0" "" "" "Dutch" "" "00327916" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "B240023" "00328131" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "Europe" "G005502" "00328475" "" "" "" "1" "" "00000" "{PMID:Taylor 2017:28341476}" "family history retinal disease" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "16004896" "00328476" "" "" "" "1" "" "00000" "{PMID:Taylor 2017:28341476}" "family history retinal disease" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "16001150" "00328477" "" "" "" "1" "" "00000" "{PMID:Taylor 2017:28341476}" "no family history retinal disease" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "14002270" "00328478" "" "" "" "1" "" "00000" "{PMID:Taylor 2017:28341476}" "no family history retinal disease" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "11010142" "00333634" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "M" "" "(United States)" "" "0" "" "" "" "416" "00333641" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "M" "" "(United States)" "" "0" "" "" "" "475" "00335982" "" "" "" "1" "" "00000" "{PMID:Sergouniotis 2016:27628848}" "analysis 486 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00373889" "" "" "" "1" "" "00000" "{PMID:Consugar 2015:25412400}" "" "" "" "United States" "" "0" "" "" "" "OGI-310-725" "00375368" "" "" "" "1" "" "00000" "{PMID:Zeitz 2015:25307992}" "" "" "" "United States" "" "0" "" "" "" "" "00375369" "" "" "" "1" "" "00000" "{PMID:Zeitz 2015:25307992}" "" "" "" "Belgium" "" "0" "" "" "" "" "00375370" "" "" "" "1" "" "00000" "{PMID:Zeitz 2015:25307992}" "" "" "" "United States" "" "0" "" "" "" "" "00375371" "" "" "" "1" "" "00000" "{PMID:Zeitz 2015:25307992}" "" "" "" "France" "" "0" "" "" "" "" "00375372" "" "" "" "1" "" "00000" "{PMID:Zeitz 2015:25307992}" "" "" "" "France" "" "0" "" "" "" "" "00375373" "" "" "" "1" "" "00000" "{PMID:Zeitz 2015:25307992}" "" "" "" "Belgium" "" "0" "" "" "" "" "00375374" "" "" "" "1" "" "00000" "{PMID:Zeitz 2015:25307992}" "" "" "" "Israel" "" "0" "" "" "" "" "00375375" "" "" "" "1" "" "00000" "{PMID:Zeitz 2015:25307992}" "" "" "" "Belgium" "" "0" "" "" "" "" "00375376" "" "" "" "1" "" "00000" "{PMID:Zeitz 2015:25307992}" "" "" "" "France" "" "0" "" "" "" "" "00375377" "" "" "" "1" "" "00000" "{PMID:Zeitz 2015:25307992}" "" "" "" "France" "" "0" "" "" "" "" "00375378" "" "" "" "1" "" "00000" "{PMID:Zeitz 2015:25307992}" "" "" "" "France" "" "0" "" "" "" "" "00375379" "" "" "" "1" "" "00000" "{PMID:Zeitz 2015:25307992}" "" "" "" "France" "" "0" "" "" "" "" "00375380" "" "" "" "1" "" "00000" "{PMID:Zeitz 2015:25307992}" "" "" "" "Belgium" "" "0" "" "" "" "" "00375381" "" "" "" "1" "" "00000" "{PMID:Zeitz 2015:25307992}" "" "" "" "Belgium" "" "0" "" "" "" "" "00375382" "" "" "" "1" "" "00000" "{PMID:Zeitz 2015:25307992}" "" "" "" "Germany" "" "0" "" "" "" "" "00375383" "" "" "" "1" "" "00000" "{PMID:Zeitz 2015:25307992}" "" "" "" "France" "" "0" "" "" "" "" "00375384" "" "" "" "1" "" "00000" "{PMID:Zeitz 2015:25307992}" "" "" "" "Germany" "" "0" "" "" "" "" "00375385" "" "" "" "1" "" "00000" "{PMID:Zeitz 2015:25307992}" "" "" "" "France" "" "0" "" "" "" "" "00375407" "" "" "" "1" "" "00000" "{PMID:Zeitz 2015:25307992}" "" "" "" "Israel" "" "0" "" "" "" "" "00375408" "" "" "" "1" "" "00000" "{PMID:Zeitz 2015:25307992}" "" "" "" "Israel" "" "0" "" "" "" "" "00376239" "" "" "" "1" "" "00000" "{PMID:Jacobson 2008:18463160}" "" "M" "" "" "" "0" "" "" "" "" "00376240" "" "" "" "1" "" "00000" "{PMID:Jacobson 2008:18463160}" "" "M" "" "" "" "0" "" "" "" "" "00376535" "" "" "" "1" "" "00000" "{PMID:Zeitz-2009:19578023}" "" "" "" "" "" "0" "" "" "" "" "00376536" "" "" "" "1" "" "00000" "{PMID:Zeitz-2009:19578023}" "" "" "" "" "" "0" "" "" "" "" "00376537" "" "" "" "1" "" "00000" "{PMID:Zeitz-2009:19578023}" "" "" "" "Germany" "" "0" "" "" "" "" "00376538" "" "" "" "1" "" "00000" "{PMID:Zeitz-2009:19578023}" "" "" "" "Netherlands" "" "0" "" "" "" "" "00376539" "" "" "" "1" "" "00000" "{PMID:Zeitz-2009:19578023}" "" "" "" "Germany" "" "0" "" "" "" "" "00376540" "" "" "" "1" "" "00000" "{PMID:Zeitz-2009:19578023}" "" "" "" "" "" "0" "" "" "" "" "00376541" "" "" "" "1" "" "00000" "{PMID:Zeitz-2009:19578023}" "" "" "" "" "" "0" "" "" "" "" "00376542" "" "" "" "1" "" "00000" "{PMID:Zeitz-2009:19578023}" "mother het" "" "" "Germany" "" "0" "" "" "" "" "00376543" "" "" "" "1" "" "00000" "{PMID:Zeitz-2009:19578023}" "" "" "" "Netherlands" "" "0" "" "" "" "" "00376544" "" "" "" "1" "" "00000" "{PMID:Zeitz-2009:19578023}" "" "" "" "" "" "0" "" "" "" "" "00376545" "" "" "" "1" "" "00000" "{PMID:Zeitz-2009:19578023}" "" "" "" "" "" "0" "" "" "" "" "00376546" "" "" "" "1" "" "00000" "{PMID:Zeitz-2009:19578023}" "" "" "" "" "" "0" "" "" "" "" "00376547" "" "" "" "1" "" "00000" "{PMID:Zeitz-2009:19578023}" "" "" "" "Germany" "" "0" "" "" "" "" "00376548" "" "" "" "1" "" "00000" "{PMID:Zeitz-2009:19578023}" "" "" "" "" "" "0" "" "" "" "" "00376549" "" "" "" "1" "" "00000" "{PMID:Zeitz-2009:19578023}" "" "" "" "" "" "0" "" "" "" "" "00376550" "" "" "" "1" "" "00000" "{PMID:Zeitz-2009:19578023}" "affected brother and grandfather hemi, mother het" "" "" "Germany" "" "0" "" "" "" "" "00376551" "" "" "" "1" "" "00000" "{PMID:Zeitz-2009:19578023}" "" "" "" "Germany" "" "0" "" "" "" "" "00376552" "" "" "" "1" "" "00000" "{PMID:Zeitz-2009:19578023}" "" "" "" "" "" "0" "" "" "" "" "00376553" "" "" "" "1" "" "00000" "{PMID:Zeitz-2009:19578023}" "" "" "" "" "" "0" "" "" "" "" "00376554" "" "" "" "1" "" "00000" "{PMID:Zeitz-2009:19578023}" "" "" "" "Germany" "" "0" "" "" "" "" "00376555" "" "" "" "1" "" "00000" "{PMID:Zeitz-2009:19578023}" "" "" "" "" "" "0" "" "" "" "" "00376556" "" "" "" "1" "" "00000" "{PMID:Zeitz-2009:19578023}" "" "" "" "Germany" "" "0" "" "" "" "" "00376557" "" "" "" "1" "" "00000" "{PMID:Zeitz-2009:19578023}" "" "" "" "" "" "0" "" "" "" "" "00376558" "" "" "" "1" "" "00000" "{PMID:Zeitz-2009:19578023}" "" "" "" "Germany" "" "0" "" "" "" "" "00376559" "" "" "" "1" "" "00000" "{PMID:Zeitz-2009:19578023}" "" "" "" "" "" "0" "" "" "" "" "00376560" "" "" "" "1" "" "00000" "{PMID:Zeitz-2009:19578023}" "" "" "" "" "" "0" "" "" "" "" "00376561" "" "" "" "1" "" "00000" "{PMID:Zeitz-2009:19578023}" "" "" "" "Belgium" "" "0" "" "" "" "" "00376562" "" "" "" "1" "" "00000" "{PMID:Zeitz-2009:19578023}" "" "" "" "" "" "0" "" "" "" "" "00376563" "" "" "" "1" "" "00000" "{PMID:Zeitz-2009:19578023}" "" "" "" "" "" "0" "" "" "" "" "00376564" "" "" "" "1" "" "00000" "{PMID:Zeitz-2009:19578023}" "" "" "" "" "" "0" "" "" "" "" "00376565" "" "" "" "1" "" "00000" "{PMID:Zeitz-2009:19578023}" "" "" "" "Netherlands" "" "0" "" "" "" "" "00376566" "" "" "" "1" "" "00000" "{PMID:Zeitz-2009:19578023}" "" "" "" "" "" "0" "" "" "" "" "00376567" "" "" "" "1" "" "00000" "{PMID:Zeitz-2009:19578023}" "" "" "" "" "" "0" "" "" "" "" "00376568" "" "" "" "1" "" "00000" "{PMID:Zeitz-2009:19578023}" "" "" "" "Netherlands" "" "0" "" "" "" "" "00376569" "" "" "" "1" "" "00000" "{PMID:Zeitz-2009:19578023}" "" "" "" "" "" "0" "" "" "" "" "00376570" "" "" "" "1" "" "00000" "{PMID:Zeitz-2009:19578023}" "" "" "" "" "" "0" "" "" "" "" "00376571" "" "" "" "1" "" "00000" "{PMID:Zeitz-2009:19578023}" "mother het" "" "" "Germany" "" "0" "" "" "" "" "00376651" "" "" "" "1" "" "00000" "{PMID:Zeitz-2009:19578023}" "" "" "" "Canada" "" "0" "" "" "" "" "00376652" "" "" "" "1" "" "00000" "{PMID:Zeitz-2009:19578023}" "" "" "" "Switzerland" "" "0" "" "" "" "" "00376653" "" "" "" "1" "" "00000" "{PMID:Zeitz-2009:19578023}" "" "" "" "Germany" "" "0" "" "" "" "" "00376654" "" "" "" "1" "" "00000" "{PMID:Zeitz-2009:19578023}" "" "" "" "Belgium" "" "0" "" "" "" "" "00376655" "" "" "" "1" "" "00000" "{PMID:Zeitz-2009:19578023}" "" "" "" "Belgium" "" "0" "" "" "" "" "00376656" "" "" "" "1" "" "00000" "{PMID:Zeitz-2009:19578023}" "" "" "" "Belgium" "" "0" "" "" "" "" "00377002" "" "" "" "1" "" "00000" "{PMID:Simonsz-2009:20001510}" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00379595" "" "" "" "1" "" "00000" "{PMID:Wang-2012:22735794}" "" "M" "" "China" "" "0" "" "" "" "" "00379596" "" "" "" "1" "" "00000" "{PMID:Wang-2012:22735794}" "" "M" "" "China" "" "0" "" "" "" "" "00379597" "" "" "" "1" "" "00000" "{PMID:Wang-2012:22735794}" "" "M" "" "China" "" "0" "" "" "" "" "00379849" "" "" "" "1" "" "00000" "{PMID:Wang 2018:30029497}" "" "M" "?" "China" "" "0" "" "" "Han Chinese" "2016091401" "00381242" "" "" "" "1" "" "00008" "{PMID:Bijveld-2013:23714322}" "" "M" "" "Netherlands" "" "0" "" "" "Dutch" "" "00381243" "" "" "" "1" "" "00008" "{PMID:Bijveld-2013:23714322}" "" "M" "" "Netherlands" "" "0" "" "" "Dutch" "" "00381244" "" "" "" "3" "" "00008" "{PMID:Bijveld-2013:23714322}" "" "M" "" "Netherlands" "" "0" "" "" "Dutch" "" "00381245" "" "" "" "1" "" "00008" "{PMID:Bijveld-2013:23714322}" "" "M" "" "Netherlands" "" "0" "" "" "Dutch" "" "00381246" "" "" "" "2" "" "00008" "{PMID:Bijveld-2013:23714322}" "" "M" "" "Netherlands" "" "0" "" "" "Dutch" "" "00381247" "" "" "" "1" "" "00008" "{PMID:Bijveld-2013:23714322}" "" "M" "" "Netherlands" "" "0" "" "" "Dutch" "" "00381248" "" "" "" "2" "" "00008" "{PMID:Bijveld-2013:23714322}" "" "M" "" "Netherlands" "" "0" "" "" "Dutch" "" "00381249" "" "" "" "1" "" "00008" "{PMID:Bijveld-2013:23714322}" "" "M" "" "Netherlands" "" "0" "" "" "Dutch" "" "00381250" "" "" "" "2" "" "00008" "{PMID:Bijveld-2013:23714322}" "" "M" "" "Netherlands" "" "0" "" "" "Dutch" "" "00381251" "" "" "" "3" "" "00008" "{PMID:Bijveld-2013:23714322}" "" "M" "" "Netherlands" "" "0" "" "" "Dutch" "" "00381252" "" "" "" "2" "" "00008" "{PMID:Bijveld-2013:23714322}" "" "M" "" "Netherlands" "" "0" "" "" "Dutch" "" "00381253" "" "" "" "1" "" "00008" "{PMID:Bijveld-2013:23714322}" "" "M" "" "Netherlands" "" "0" "" "" "Dutch" "" "00381267" "" "" "" "1" "" "00008" "{PMID:Bijveld-2013:23714322}" "" "M" "" "Netherlands" "" "0" "" "" "Dutch" "" "00384444" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31106028}" "" "M" "" "China" "" "0" "" "" "" "14562" "00389061" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 116, congenital stationary night blindness, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "345" "00389096" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 126, congenital stationary night blindness, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "380" "00390326" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "G005502" "00391560" "" "" "" "1" "" "00000" "{PMID:Hull 2020:32856788}" "" "" "" "New Zealand" "" "0" "" "" "white" "57" "00391561" "" "" "" "1" "" "00000" "{PMID:Hull 2020:32856788}" "" "" "" "New Zealand" "" "0" "" "" "Pacific" "58" "00393536" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "M" "" "" "" "0" "" "" "" "" "00395581" "" "" "" "1" "" "00000" "{PMID:Perea-Romero 2021:34448047}" "" "" "" "Spain" "" "0" "" "" "" "RP-1321" "00396482" "" "" "" "1" "" "00000" "{PMID:Dockery 2017:29099798}" "no patient numbers in the paper, consecutive numbers given" "?" "" "Ireland" "" "0" "" "" "" "15" "00404192" "" "" "" "8" "" "00000" "{PMID:Bech Hansen 2000:11062471}" "" "M" "" "United States" "" "0" "" "" "" "290" "00404193" "" "" "" "1" "" "00000" "{PMID:Bech Hansen 2000:11062471}" "" "M" "" "United States" "" "0" "" "" "" "740" "00404194" "" "" "" "4" "" "00000" "{PMID:Bech Hansen 2000:11062471}" "" "M" "" "United States" "" "0" "" "" "" "830" "00404195" "" "" "" "8" "" "00000" "{PMID:Bech Hansen 2000:11062471}" "Ref.Musarella, M.A. et al. 1989" "M" "" "United States" "" "0" "" "" "" "Y1" "00404196" "" "" "" "2" "" "00000" "{PMID:Bech Hansen 2000:11062471}" "Ref.Musarella, M.A. et al. 1989" "M" "" "United States" "" "0" "" "" "" "Y2" "00404197" "" "" "" "5" "" "00000" "{PMID:Bech Hansen 2000:11062471}" "Ref.Musarella, M.A. et al. 1989" "M" "" "United States" "" "0" "" "" "" "Y3" "00404198" "" "" "" "4" "" "00000" "{PMID:Bech Hansen 2000:11062471}" "Ref.Musarella, M.A. et al. 1989" "M" "" "United States" "" "0" "" "" "" "R5c" "00404199" "" "" "" "2" "" "00000" "{PMID:Bech Hansen 2000:11062471}" "Ref.Bergen, A.A.B.. 1995" "M" "no" "Netherlands" "" "0" "" "" "" "P23.340" "00404200" "" "" "" "2" "" "00000" "{PMID:Bech Hansen 2000:11062471}" "" "M" "" "Canada" "" "0" "" "" "" "650" "00404201" "" "" "" "1" "" "00000" "{PMID:Bech Hansen 2000:11062471}" "" "M" "" "" "" "0" "" "" "" "750f" "00404202" "" "" "" "1" "" "00000" "{PMID:Bech Hansen 2000:11062471}" "" "M" "" "" "" "0" "" "" "" "780" "00404203" "" "" "" "6" "" "00000" "{PMID:Bech Hansen 2000:11062471}" "Ref.Bergen, A.A.B.. 1995 . Family 2" "M" "no" "Germany" "" "0" "" "" "" "540" "00404204" "" "" "" "2" "" "00000" "{PMID:Bech Hansen 2000:11062471}" "" "M" "" "United States" "" "0" "" "" "" "640" "00404205" "" "" "" "7" "" "00000" "{PMID:Bech Hansen 2000:11062471}" "Ref.Musarella, M.A. et al. 1989" "M" "" "United States" "" "0" "" "" "" "R7" "00404206" "" "" "" "2" "" "00000" "{PMID:Bech Hansen 2000:11062471}" "" "M" "no" "Netherlands" "" "0" "" "" "" "P520" "00404207" "" "" "" "2" "" "00000" "{PMID:Bech Hansen 2000:11062471}" "" "M" "" "Canada" "" "0" "" "" "" "580" "00404208" "" "" "" "9" "" "00000" "{PMID:Bech Hansen 2000:11062471}" "Ref.Bergen, A.A.B.. 1995. Family 3" "M" "no" "Germany" "" "0" "" "" "" "550" "00404209" "" "" "" "3" "" "00000" "{PMID:Bech Hansen 2000:11062471}" "Ref.Musarella, M.A. et al. 1989" "M" "" "United States" "" "0" "" "" "" "B1" "00404210" "" "" "" "1" "" "00000" "{PMID:Bech Hansen 2000:11062471}" "" "M" "" "United States" "" "0" "" "" "" "B660" "00404211" "" "" "" "5" "" "00000" "{PMID:Bech Hansen 2000:11062471}" "Ref.Musarella, M.A. et al. 1989" "M" "" "United States" "" "0" "" "" "" "B2" "00404212" "" "" "" "4" "" "00000" "{PMID:Bech Hansen 2000:11062471}" "" "M" "" "Costa Rica" "" "0" "" "" "" "610" "00404213" "" "" "" "10" "" "00000" "{PMID:Bech Hansen 2000:11062471}" "" "M" "" "Costa Rica" "" "0" "" "" "" "620" "00404214" "" "" "" "1" "" "00000" "{PMID:Bech Hansen 2000:11062471}" "" "M" "" "" "" "0" "" "" "" "2676" "00404215" "" "" "" "1" "" "00000" "{PMID:Bech Hansen 2000:11062471}" "" "M" "" "" "" "0" "" "" "" "7903" "00404216" "" "" "" "1" "" "00000" "{PMID:Pusch 2000:11062472}" "" "" "" "" "" "0" "" "" "" "CSNBX" "00404217" "" "" "" "1" "" "00000" "{PMID:Pusch 2000:11062472}" "" "" "" "Sweden" "" "0" "" "" "" "2438B" "00404218" "" "" "" "1" "" "00000" "{PMID:Pusch 2000:11062472}" "" "" "" "Sweden" "" "0" "" "" "" "5886" "00404219" "" "" "" "1" "" "00000" "{PMID:Pusch 2000:11062472}" "" "" "" "Sweden" "" "0" "" "" "" "5884" "00404220" "" "" "" "1" "" "00000" "{PMID:Pusch 2000:11062472}" "" "" "" "" "" "0" "" "" "" "9606" "00404221" "" "" "" "1" "" "00000" "{PMID:Pusch 2000:11062472}" "" "" "" "" "" "0" "" "" "" "2438T" "00404222" "" "" "" "1" "" "00000" "{PMID:Pusch 2000:11062472}" "" "" "" "" "" "0" "" "" "" "3200" "00404223" "" "" "" "1" "" "00000" "{PMID:Pusch 2000:11062472}" "" "" "" "" "" "0" "" "" "" "5387" "00404224" "" "" "" "1" "" "00000" "{PMID:Pusch 2000:11062472}" "" "" "" "" "" "0" "" "" "" "5883" "00404225" "" "" "" "1" "" "00000" "{PMID:Pusch 2000:11062472}" "" "" "" "" "" "0" "" "" "" "2675" "00404226" "" "" "" "1" "" "00000" "{PMID:Pusch 2000:11062472}" "" "" "" "" "" "0" "" "" "" "5653" "00404227" "" "" "" "1" "" "00000" "{PMID:Pusch 2000:11062472}" "" "" "" "" "" "0" "" "" "" "2996" "00404228" "" "" "" "1" "" "00000" "{PMID:Pusch 2000:11062472}" "" "" "" "" "" "0" "" "" "" "2999" "00404229" "" "" "" "1" "" "00000" "{PMID:Pusch 2000:11062472}" "" "" "" "" "" "0" "" "" "" "9069" "00404230" "" "" "" "1" "" "00000" "{PMID:Pusch 2000:11062472}" "" "" "" "" "" "0" "" "" "" "9373" "00404231" "" "" "" "1" "" "00000" "{PMID:Pusch 2000:11062472}" "" "" "" "" "" "0" "" "" "" "5889" "00404232" "" "" "" "1" "" "00000" "{PMID:Pusch 2000:11062472}" "" "" "" "" "" "0" "" "" "" "8292" "00404233" "" "" "" "1" "" "00000" "{PMID:Pusch 2000:11062472}" "" "" "" "" "" "0" "" "" "" "2491" "00404234" "" "" "" "1" "" "00000" "{PMID:Pusch 2000:11062472}" "" "" "" "" "" "0" "" "" "" "3445" "00404235" "" "" "" "1" "" "00000" "{PMID:Pusch 2000:11062472}" "" "" "" "" "" "0" "" "" "" "2422" "00404236" "" "" "" "1" "" "00000" "{PMID:Pusch 2000:11062472}" "" "" "" "" "" "0" "" "" "" "2423" "00404237" "" "" "" "1" "" "00000" "{PMID:Pusch 2000:11062472}" "" "" "" "" "" "0" "" "" "" "2618" "00404238" "" "" "" "1" "" "00000" "{PMID:Xiao 2006:16670814}" "novel mutation" "M" "" "China" "" "0" "" "" "chinese" "F-A, IV1" "00404239" "" "" "" "1" "" "00000" "{PMID:Xiao 2006:16670814}" "carrier, novel mutation" "F" "" "China" "" "0" "" "" "chinese" "F-A, IV2" "00404240" "" "" "" "1" "" "00000" "{PMID:Xiao 2006:16670814}" "carrier, novel mutation" "F" "" "China" "" "0" "" "" "chinese" "F-A, IV7" "00404241" "" "" "" "1" "" "00000" "{PMID:Xiao 2006:16670814}" "carrier, novel mutation" "F" "" "China" "" "0" "" "" "chinese" "F-A, IV9" "00404242" "" "" "" "1" "" "00000" "{PMID:Xiao 2006:16670814}" "carrier, novel mutation" "F" "" "China" "" "0" "" "" "chinese" "F-A, V1" "00404243" "" "" "" "1" "" "00000" "{PMID:Xiao 2006:16670814}" "carrier, novel mutation" "F" "" "China" "" "0" "" "" "chinese" "F-A, V3" "00404244" "" "" "" "1" "" "00000" "{PMID:Xiao 2006:16670814}" "novel mutation" "M" "" "China" "" "0" "" "" "chinese" "F-A, V5" "00404245" "" "" "" "1" "" "00000" "{PMID:Xiao 2006:16670814}" "carrier, novel mutation" "F" "" "China" "" "0" "" "" "chinese" "F-A,V7" "00404246" "" "" "" "1" "" "00000" "{PMID:Xiao 2006:16670814}" "novel mutation" "M" "" "China" "" "0" "" "" "chinese" "F-A,V8" "00404247" "" "" "" "1" "" "00000" "{PMID:Xiao 2006:16670814}" "novel mutation" "M" "" "China" "" "0" "" "" "chinese" "F-A, V10" "00404248" "" "" "" "1" "" "00000" "{PMID:Xiao 2006:16670814}" "novel mutation" "M" "" "China" "" "0" "" "" "chinese" "F-A, V:I2" "00404249" "" "" "" "1" "" "00000" "{PMID:Xiao 2006:16670814}" "novel mutation" "M" "" "China" "" "0" "" "" "chinese" "F-B, III2" "00404250" "" "" "" "1" "" "00000" "{PMID:Xiao 2006:16670814}" "carrier, novel mutation" "M" "" "China" "" "0" "" "" "chinese" "F-B,III:1" "00404251" "" "" "" "1" "" "00000" "{PMID:Zhang 2007:17392683}" "novo c.144C>G, p.Cys48Trp. His parents had. Neither myopia nor CSNB" "M" "" "" "" "0" "" "" "" "F-A, III:1" "00404252" "" "" "" "1" "" "00000" "{PMID:Zhang 2007:17392683}" "novel mutation Arg191Gln, His parents had. Neither myopia nor CSNB." "M" "" "" "" "0" "" "" "" "F-B, II:1" "00404253" "" "" "" "1" "" "00000" "{PMID:dhan 2011:00000_Pr}" "affected maternal grandfather" "M" "" "New Zealand" "" "0" "" "" "Caucasian" "II: 1" "00404254" "" "" "" "1" "" "00000" "{PMID:dhan 2011:00000_Pr}" "obligate carrier mother" "F" "" "New Zealand" "" "0" "" "" "Caucasian" "III: 1" "00404255" "" "" "" "1" "" "00000" "{PMID:dhan 2011:00000_Pr}" "obligate carrier aunt" "F" "" "New Zealand" "" "0" "" "" "Caucasian" "III: 2" "00404256" "" "" "" "1" "" "00000" "{PMID:dhan 2011:00000_Pr}" "proband" "M" "" "New Zealand" "" "0" "" "" "Caucasian" "IV: 2" "00404257" "" "" "" "1" "" "00000" "{PMID:Leroy 2009:18617546}" "affected patient" "M" "" "Belgium" "" "0" "" "" "Flemish" "AIII14" "00404258" "" "" "" "1" "" "00000" "{PMID:Leroy 2009:18617546}" "affected patient" "M" "" "Belgium" "" "0" "" "" "Flemish" "AV1" "00404259" "" "" "" "1" "" "00000" "{PMID:Leroy 2009:18617546}" "carrier" "F" "" "Belgium" "" "0" "" "" "Flemish" "AIV10" "00404260" "" "" "" "1" "" "00000" "{PMID:Leroy 2009:18617546}" "carrier" "F" "" "Belgium" "" "0" "" "" "Flemish" "AIV3" "00404261" "" "" "" "1" "" "00000" "{PMID:Leroy 2009:18617546}" "affected patient" "M" "" "Belgium" "" "0" "" "" "Flemish" "AIV4" "00404262" "" "" "" "1" "" "00000" "{PMID:Leroy 2009:18617546}" "affected patient" "M" "" "Belgium" "" "0" "" "" "Flemish" "BIV6" "00404263" "" "" "" "1" "" "00000" "{PMID:Leroy 2009:18617546}" "carrier" "F" "" "Belgium" "" "0" "" "" "Flemish" "CIV7" "00404264" "" "" "" "1" "" "00000" "{PMID:Leroy 2009:18617546}" "affected patient" "M" "" "Belgium" "" "0" "" "" "Flemish" "CV1" "00404265" "" "" "" "1" "" "00000" "{PMID:Leroy 2009:18617546}" "affected patient" "M" "" "Belgium" "" "0" "" "" "Flemish" "CV3" "00404266" "" "" "" "1" "" "00000" "{PMID:Leroy 2009:18617546}" "affected patient" "M" "" "Belgium" "" "0" "" "" "Flemish" "CV4" "00404267" "" "" "" "1" "" "00000" "{PMID:McAnany 2013:23289809}" "novel mutation" "M" "" "" "" "0" "" "" "Asian" "" "00405187" "" "" "" "1" "" "00000" "{PMID:427_Kurata-2017:NYX_2851}" "" "M" "?" "" "" "0" "" "" "" "" "00405188" "" "" "" "1" "" "00000" "{PMID:698_Ivanova-2019:NYX_3182}" "" "M" "?" "Russia" "" "0" "" "" "Russian" "V:4" "00405189" "" "" "" "1" "" "00000" "{PMID:698_Ivanova-2019:NYX_3182}" "older brother of proband" "M" "?" "Russia" "" "0" "" "" "Russian" "V:2" "00405190" "" "" "" "1" "" "00000" "{PMID:698_Ivanova-2019:NYX_3182}" "carrier" "F" "?" "Russia" "" "0" "" "" "Russian" "IV:7" "00405191" "" "" "" "1" "" "00000" "{PMID:698_Ivanova-2019:NYX_3182}" "proband’s uncle" "M" "?" "Russia" "" "0" "" "" "Russian" "IV:2" "00405192" "" "" "" "1" "" "00000" "{PMID:48_Zhou-2015:NYX_2580}" "" "M" "?" "China" "" "0" "" "" "Chinese" "F1:II1" "00405193" "" "" "" "1" "" "00000" "{PMID:48_Zhou-2015:NYX_2580}" "" "M" "?" "China" "" "0" "" "" "Chinese" "F2:II1" "00405194" "" "" "" "1" "" "00000" "{PMID:48_Zhou-2015:NYX_2580}" "" "M" "?" "China" "" "0" "" "" "Chinese" "F3:II1" "00405195" "" "" "" "1" "" "00000" "{PMID:48_Zhou-2015:NYX_2580}" "" "M" "?" "China" "" "0" "" "" "Chinese" "F4:II1" "00405196" "" "" "" "1" "" "00000" "{PMID:48_Zhou-2015:NYX_2580}" "" "M" "?" "China" "" "0" "" "" "Chinese" "F4:I1" "00405197" "" "" "" "1" "" "00000" "{PMID:48_Zhou-2015:NYX_2580}" "" "F" "?" "China" "" "0" "" "" "Chinese" "F4:I2" "00405198" "" "" "" "1" "" "00000" "{PMID:48_Zhou-2015:NYX_2580}" "" "M" "?" "China" "" "0" "" "" "Chinese" "F4:II2" "00405199" "" "" "" "1" "" "00000" "{PMID:48_Zhou-2015:NYX_2580}" "" "M" "?" "China" "" "0" "" "" "Chinese" "F4:II3" "00405200" "" "" "" "1" "" "00000" "{PMID:941_Dai-2015:NYX_2623}" "affected patient" "M" "?" "China" "" "0" "" "" "Chinese" "F-CSNB-01, P- I:1" "00405201" "" "" "" "1" "" "00000" "{PMID:941_Dai-2015:NYX_2623}" "carrier" "F" "?" "China" "" "0" "" "" "Chinese" "F-CSNB-01,P- II:4" "00405202" "" "" "" "1" "" "00000" "{PMID:941_Dai-2015:NYX_2623}" "carrier" "F" "?" "China" "" "0" "" "" "Chinese" "F-CSNB-01,P-II:5" "00405203" "" "" "" "1" "" "00000" "{PMID:941_Dai-2015:NYX_2623}" "affected patient" "M" "?" "China" "" "0" "" "" "Chinese" "F-CSNB-01,P- III:1" "00405204" "" "" "" "1" "" "00000" "{PMID:941_Dai-2015:NYX_2623}" "carrier" "F" "?" "China" "" "0" "" "" "Chinese" "F-CSNB-01,P-III:2" "00405205" "" "" "" "1" "" "00000" "{PMID:941_Dai-2015:NYX_2623}" "affected patient" "M" "?" "China" "" "0" "" "" "Chinese" "F-CSNB-01,P-III:4" "00405206" "" "" "" "1" "" "00000" "{PMID:941_Dai-2015:NYX_2623}" "affected patient" "M" "?" "China" "" "0" "" "" "Chinese" "F-CSNB-01,P-III:5" "00405207" "" "" "" "1" "" "00000" "{PMID:941_Dai-2015:NYX_2623}" "affected patient" "M" "?" "China" "" "0" "" "" "Chinese" "F-CSNB-01,P- III:6" "00405208" "" "" "" "1" "" "00000" "{PMID:941_Dai-2015:NYX_2623}" "affected patient" "M" "?" "China" "" "0" "" "" "Chinese" "F-CSNB-01,P-IV:1" "00405209" "" "" "" "1" "" "00000" "{PMID:941_Dai-2015:NYX_2623}" "affected patient" "M" "?" "China" "" "0" "" "" "Chinese" "F-CSNB-02,P- III:1" "00405210" "" "" "" "1" "" "00000" "{PMID:941_Dai-2015:NYX_2623}" "carrier" "F" "?" "China" "" "0" "" "" "Chinese" "F-CSNB-02,P- III:2" "00405211" "" "" "" "1" "" "00000" "{PMID:941_Dai-2015:NYX_2623}" "affected patient" "M" "?" "China" "" "0" "" "" "Chinese" "F-CSNB-02,P- IV:1" "00405212" "" "" "" "1" "" "00000" "{PMID:941_Dai-2015:NYX_2623}" "affected patient" "M" "?" "China" "" "0" "" "" "Chinese" "F-CSNB-02,P- II:3" "00405213" "" "" "" "1" "" "00000" "{PMID:941_Dai-2015:NYX_2623}" "affected patient" "M" "?" "China" "" "0" "" "" "Chinese" "F-CSNB-02,P- II:4" "00405214" "" "" "" "1" "" "00000" "{PMID:941_Dai-2015:NYX_2623}" "affected patient" "M" "?" "China" "" "0" "" "" "Chinese" "F-CSNB-02,P- II:5" "00405215" "" "" "" "1" "" "00000" "{PMID:941_Dai-2015:NYX_2623}" "affected patient" "M" "?" "China" "" "0" "" "" "Chinese" "F-CSNB-02,P- III:4" "00411363" "" "" "" "1" "" "01164" "" "" "M" "-" "Germany" "" "0" "" "" "" "195271" "00414793" "" "" "" "1" "" "04364" "" "" "M" "" "India" ">19y" "0" "yes" "none" "Asia" "" "00414834" "" "" "" "1" "" "04364" "" "" "M" "" "India" ">31y" "" "yes" "none" "Asia" "" "00414839" "" "" "" "1" "" "04364" "" "3-generation family, maternal grandfather affected" "M" "no" "India" ">14y" "" "yes" "none" "Asia" "" "00426914" "" "" "" "1" "" "00000" "{PMID:Zhu 2022:35456422}" "family 21, individual 23" "M" "" "" "" "0" "" "" "" "21_23" "00426915" "" "" "" "1" "" "00000" "{PMID:Zhu 2022:35456422}" "family 21, individual 24" "M" "" "" "" "0" "" "" "" "21_24" "00426916" "" "" "" "1" "" "00000" "{PMID:Zhu 2022:35456422}" "family 22, individual 25" "M" "" "" "" "0" "" "" "" "22_25" "00426919" "" "" "" "1" "" "00000" "{PMID:Zhu 2022:35456422}" "family 25, individual 28" "M" "" "" "" "0" "" "" "" "25_28" "00429542" "" "" "" "1" "" "04436" "{PMID:Panneman 2023:36819107}" "" "M" "" "" "" "0" "" "" "" "" "00429884" "" "" "" "1" "" "04436" "{PMID:Panneman 2023:36819107}" "" "M" "" "" "" "0" "" "" "" "" "00444226" "" "" "" "1" "" "00006" "{PMID:Kim 2021:34064005}, {PMID:Moon 2021:35052368}" "" "M" "" "Korea" "" "0" "" "" "" "Pat4;Pat60" "00444227" "" "" "" "1" "" "00006" "{PMID:Kim 2021:34064005}" "" "M" "" "Korea" "" "0" "" "" "" "Pat5" "00444294" "" "" "" "1" "" "00006" "{PMID:Moon 2021:35052368}" "" "" "" "Korea" "" "0" "" "" "" "Pat61" "00447130" "" "" "" "2" "" "00006" "{PMID:Weisschuh 2024:37734845}" "family, 2 affected" "M" "" "Germany" "" "0" "" "" "" "CSNB-141" "00447131" "" "" "" "4" "" "00006" "{PMID:Weisschuh 2024:37734845}" "family, >3 affected" "M" "" "Germany" "" "0" "" "" "" "CSNB-144" "00447549" "" "" "" "2" "" "00006" "{PMID:Weisschuh 2024:37734845}" "family, 2 affected" "M" "" "Germany" "" "0" "" "" "" "CSNB-140" "00447719" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "F" "" "Germany" "" "0" "" "" "" "SRP-1294" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 248 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00000209" "01157" "00033154" "04214" "00144271" "04214" "00308617" "04214" "00309261" "04214" "00309262" "04214" "00309263" "04214" "00309264" "04214" "00309265" "04214" "00309266" "04214" "00309267" "04214" "00319840" "04214" "00319841" "04214" "00319842" "04214" "00319843" "04214" "00319844" "04214" "00319845" "04214" "00319846" "04214" "00319847" "04214" "00319848" "04214" "00319849" "04214" "00326676" "04214" "00326677" "04214" "00327916" "04214" "00328131" "04214" "00328475" "04214" "00328476" "04214" "00328477" "04214" "00328478" "04214" "00333634" "04214" "00333641" "04214" "00335982" "04214" "00373889" "04214" "00375368" "04214" "00375369" "04214" "00375370" "04214" "00375371" "04214" "00375372" "04214" "00375373" "04214" "00375374" "04214" "00375375" "04214" "00375376" "04214" "00375377" "04214" "00375378" "04214" "00375379" "04214" "00375380" "04214" "00375381" "04214" "00375382" "04214" "00375383" "04214" "00375384" "04214" "00375385" "04214" "00375407" "04214" "00375408" "04214" "00376239" "04214" "00376240" "04214" "00376535" "04214" "00376536" "04214" "00376537" "04214" "00376538" "04214" "00376539" "04214" "00376540" "04214" "00376541" "04214" "00376542" "04214" "00376543" "04214" "00376544" "04214" "00376545" "04214" "00376546" "04214" "00376547" "04214" "00376548" "04214" "00376549" "04214" "00376550" "04214" "00376551" "04214" "00376552" "04214" "00376553" "04214" "00376554" "04214" "00376555" "04214" "00376556" "04214" "00376557" "04214" "00376558" "04214" "00376559" "04214" "00376560" "04214" "00376561" "04214" "00376562" "04214" "00376563" "04214" "00376564" "04214" "00376565" "04214" "00376566" "04214" "00376567" "04214" "00376568" "04214" "00376569" "04214" "00376570" "04214" "00376571" "04214" "00376651" "04214" "00376652" "04214" "00376653" "04214" "00376654" "04214" "00376655" "04214" "00376656" "04214" "00377002" "04214" "00379595" "04214" "00379596" "04214" "00379597" "04214" "00379849" "04214" "00381242" "04214" "00381243" "04214" "00381244" "04214" "00381245" "04214" "00381246" "04214" "00381247" "04214" "00381248" "04214" "00381249" "04214" "00381250" "04214" "00381251" "04214" "00381252" "04214" "00381253" "04214" "00381267" "04214" "00384444" "04214" "00389061" "04214" "00389096" "04214" "00390326" "04214" "00391560" "04214" "00391561" "04214" "00393536" "04214" "00395581" "04214" "00396482" "04214" "00404192" "04214" "00404193" "04214" "00404194" "04214" "00404195" "04214" "00404196" "04214" "00404197" "04214" "00404198" "04214" "00404199" "04214" "00404200" "04214" "00404201" "04214" "00404202" "04214" "00404203" "04214" "00404204" "04214" "00404205" "04214" "00404206" "04214" "00404207" "04214" "00404208" "04214" "00404209" "04214" "00404210" "04214" "00404211" "04214" "00404212" "04214" "00404213" "04214" "00404214" "04214" "00404215" "04214" "00404216" "04214" "00404217" "04214" "00404218" "04214" "00404219" "04214" "00404220" "04214" "00404221" "04214" "00404222" "04214" "00404223" "04214" "00404224" "04214" "00404225" "04214" "00404226" "04214" "00404227" "04214" "00404228" "04214" "00404229" "04214" "00404230" "04214" "00404231" "04214" "00404232" "04214" "00404233" "04214" "00404234" "04214" "00404235" "04214" "00404236" "04214" "00404237" "04214" "00404238" "04214" "00404239" "04214" "00404240" "04214" "00404241" "04214" "00404242" "04214" "00404243" "04214" "00404244" "04214" "00404245" "04214" "00404246" "04214" "00404247" "04214" "00404248" "04214" "00404249" "04214" "00404250" "04214" "00404251" "04214" "00404252" "04214" "00404253" "04214" "00404254" "04214" "00404255" "04214" "00404256" "04214" "00404257" "04214" "00404258" "04214" "00404259" "04214" "00404260" "04214" "00404261" "04214" "00404262" "04214" "00404263" "04214" "00404264" "04214" "00404265" "04214" "00404266" "04214" "00404267" "04214" "00405187" "04214" "00405188" "04214" "00405189" "04214" "00405190" "00000" "00405191" "04214" "00405192" "04214" "00405193" "04214" "00405194" "04214" "00405195" "04214" "00405196" "04214" "00405197" "04214" "00405198" "04214" "00405199" "04214" "00405200" "04214" "00405201" "00000" "00405202" "00000" "00405203" "04214" "00405204" "00000" "00405205" "04214" "00405206" "04214" "00405207" "04214" "00405208" "04214" "00405209" "04214" "00405210" "00000" "00405211" "04214" "00405212" "04214" "00405213" "04214" "00405214" "04214" "00405215" "04214" "00411363" "01980" "00414793" "05130" "00414834" "05130" "00414839" "05130" "00426914" "04214" "00426915" "04214" "00426916" "04214" "00426919" "04214" "00429542" "00112" "00429884" "04210" "00444226" "05130" "00444227" "05130" "00444294" "04214" "00447130" "00198" "00447131" "00198" "00447549" "00198" "00447719" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00112, 00198, 01157, 01980, 02252, 04210, 04214, 05130 ## Count = 247 "{{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}}" "0000026583" "04214" "00033154" "00229" "Unknown" "34y" "epilepsy" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000038983" "01157" "00000208" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)" "" "3w" "" "" "" "" "" "" "" "" "" "0000038984" "01157" "00000209" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)" "" "07y04m" "" "" "" "" "" "" "" "" "" "0000117049" "04214" "00144271" "01780" "Isolated (sporadic)" "" "first symptom: poor vision, visual acuity OD/OS: 0,2/0,2, fundus exam.: attenuated retinal arteries, pigment bone spicule-like;" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000234045" "04214" "00308617" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000234581" "04214" "00309261" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness" "" "0000234582" "04214" "00309262" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness" "" "0000234583" "04214" "00309263" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness" "" "0000234584" "04214" "00309264" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness" "" "0000234585" "04214" "00309265" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness" "" "0000234586" "04214" "00309266" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness" "" "0000234587" "04214" "00309267" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness" "" "0000241944" "04214" "00319840" "00008" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "Congenital stationary night blindness X-linked (CSNBX)" "" "0000241945" "04214" "00319841" "00008" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "Congenital stationary night blindness X-linked (CSNBX)" "" "0000241946" "04214" "00319842" "00008" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "Congenital stationary night blindness X-linked (CSNBX)" "" "0000241947" "04214" "00319843" "00008" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "Congenital stationary night blindness X-linked (CSNBX)" "" "0000241948" "04214" "00319844" "00008" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "Congenital stationary night blindness X-linked (CSNBX)" "" "0000241949" "04214" "00319845" "00008" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "Congenital stationary night blindness X-linked (CSNBX)" "" "0000241950" "04214" "00319846" "00008" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "Congenital stationary night blindness X-linked (CSNBX)" "" "0000241951" "04214" "00319847" "00008" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "Congenital stationary night blindness X-linked (CSNBX)" "" "0000241952" "04214" "00319848" "00008" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "Congenital stationary night blindness X-linked (CSNBX)" "" "0000241953" "04214" "00319849" "00008" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "Congenital stationary night blindness X-linked (CSNBX)" "" "0000245142" "04214" "00326676" "00008" "Familial, X-linked" "34y" "" "" "" "" "" "" "" "" "" "" "CSNB" "" "0000245143" "04214" "00326677" "00008" "Familial, X-linked" "11y" "" "" "" "" "" "" "" "" "" "" "CSNB" "" "0000246143" "04214" "00327916" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness" "" "0000246358" "04214" "00328131" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "multiple phenotypes" "" "0000246701" "04214" "00328475" "00000" "Familial, X-linked" "1y" "congenital stationary night blindness (HP:0007642)" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness" "" "0000246702" "04214" "00328476" "00000" "Familial, X-linked" "5y" "congenital stationary night blindness (HP:0007642)" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness" "" "0000246703" "04214" "00328477" "00000" "Familial, X-linked" "6y" "congenital stationary night blindness (HP:0007642)" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness" "" "0000246704" "04214" "00328478" "00000" "Familial, X-linked" "6y" "congenital stationary night blindness (HP:0007642)" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness" "" "0000251818" "04214" "00333634" "00000" "Familial, X-linked" "7y" "clinical category IA2b" "" "" "" "" "" "" "" "" "" "severe early childhood onset retinal dystrophy" "" "0000251825" "04214" "00333641" "00000" "Familial, X-linked" "23y" "clinical category IA2f" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness" "" "0000253897" "04214" "00335982" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000269098" "04214" "00373889" "00000" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "congenital stationary night blindness" "" "0000270582" "04214" "00375368" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "congenital stationary night blindness" "" "0000270583" "04214" "00375369" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "congenital stationary night blindness" "" "0000270584" "04214" "00375370" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "congenital stationary night blindness" "" "0000270585" "04214" "00375371" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "congenital stationary night blindness" "" "0000270586" "04214" "00375372" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "congenital stationary night blindness" "" "0000270587" "04214" "00375373" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "congenital stationary night blindness" "" "0000270588" "04214" "00375374" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "congenital stationary night blindness" "" "0000270589" "04214" "00375375" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "congenital stationary night blindness" "" "0000270590" "04214" "00375376" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "congenital stationary night blindness" "" "0000270591" "04214" "00375377" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "congenital stationary night blindness" "" "0000270592" "04214" "00375378" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "congenital stationary night blindness" "" "0000270593" "04214" "00375379" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "congenital stationary night blindness" "" "0000270594" "04214" "00375380" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "congenital stationary night blindness" "" "0000270595" "04214" "00375381" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "congenital stationary night blindness" "" "0000270596" "04214" "00375382" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "congenital stationary night blindness" "" "0000270597" "04214" "00375383" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "congenital stationary night blindness" "" "0000270598" "04214" "00375384" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "congenital stationary night blindness" "" "0000270599" "04214" "00375385" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "congenital stationary night blindness" "" "0000270621" "04214" "00375407" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "congenital stationary night blindness" "" "0000270622" "04214" "00375408" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "congenital stationary night blindness" "" "0000271447" "04214" "00376239" "00000" "Familial, autosomal recessive" "18y" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000271448" "04214" "00376240" "00000" "Familial, autosomal recessive" "60y" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000271742" "04214" "00376535" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Congenital stationary night blindness" "" "0000271743" "04214" "00376536" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Congenital stationary night blindness" "" "0000271744" "04214" "00376537" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Congenital stationary night blindness" "" "0000271745" "04214" "00376538" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Congenital stationary night blindness" "" "0000271746" "04214" "00376539" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Congenital stationary night blindness" "" "0000271747" "04214" "00376540" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Congenital stationary night blindness" "" "0000271748" "04214" "00376541" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Congenital stationary night blindness" "" "0000271749" "04214" "00376542" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Congenital stationary night blindness" "" "0000271750" "04214" "00376543" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Congenital stationary night blindness" "" "0000271751" "04214" "00376544" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Congenital stationary night blindness" "" "0000271752" "04214" "00376545" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Congenital stationary night blindness" "" "0000271753" "04214" "00376546" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Congenital stationary night blindness" "" "0000271754" "04214" "00376547" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Congenital stationary night blindness" "" "0000271755" "04214" "00376548" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Congenital stationary night blindness" "" "0000271756" "04214" "00376549" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Congenital stationary night blindness" "" "0000271757" "04214" "00376550" "00000" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "Congenital stationary night blindness" "" "0000271758" "04214" "00376551" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Congenital stationary night blindness" "" "0000271759" "04214" "00376552" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Congenital stationary night blindness" "" "0000271760" "04214" "00376553" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Congenital stationary night blindness" "" "0000271761" "04214" "00376554" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Congenital stationary night blindness" "" "0000271762" "04214" "00376555" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Congenital stationary night blindness" "" "0000271763" "04214" "00376556" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Congenital stationary night blindness" "" "0000271764" "04214" "00376557" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Congenital stationary night blindness" "" "0000271765" "04214" "00376558" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Congenital stationary night blindness" "" "0000271766" "04214" "00376559" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Congenital stationary night blindness" "" "0000271767" "04214" "00376560" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Congenital stationary night blindness" "" "0000271768" "04214" "00376561" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Congenital stationary night blindness" "" "0000271769" "04214" "00376562" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Congenital stationary night blindness" "" "0000271770" "04214" "00376563" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Congenital stationary night blindness" "" "0000271771" "04214" "00376564" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Congenital stationary night blindness" "" "0000271772" "04214" "00376565" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Congenital stationary night blindness" "" "0000271773" "04214" "00376566" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Congenital stationary night blindness" "" "0000271774" "04214" "00376567" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Congenital stationary night blindness" "" "0000271775" "04214" "00376568" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Congenital stationary night blindness" "" "0000271776" "04214" "00376569" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Congenital stationary night blindness" "" "0000271777" "04214" "00376570" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Congenital stationary night blindness" "" "0000271778" "04214" "00376571" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Congenital stationary night blindness" "" "0000271858" "04214" "00376651" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Incomplete congenital stationary night blindness" "" "0000271859" "04214" "00376652" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Congenital stationary night blindness" "" "0000271860" "04214" "00376653" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Congenital stationary night blindness" "" "0000271861" "04214" "00376654" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Congenital stationary night blindness" "" "0000271862" "04214" "00376655" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Congenital stationary night blindness" "" "0000271863" "04214" "00376656" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Congenital stationary night blindness" "" "0000272193" "04214" "00377002" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "Nightblindness-Associated Transient Tonic Downgaze" "" "0000273449" "04214" "00379595" "00008" "Isolated (sporadic)" "9y" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness (CSNB)" "" "0000273450" "04214" "00379596" "00008" "Unknown" "13y" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness (CSNB)" "" "0000273451" "04214" "00379597" "00008" "Familial, X-linked" "3y" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness (CSNB)" "" "0000273703" "04214" "00379849" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "Congnital stationary night blindness" "" "0000275093" "04214" "00381242" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Congenital Stationary Night Blindness" "" "0000275094" "04214" "00381243" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Congenital Stationary Night Blindness" "" "0000275095" "04214" "00381244" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Congenital Stationary Night Blindness" "" "0000275096" "04214" "00381245" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Congenital Stationary Night Blindness" "" "0000275097" "04214" "00381246" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Congenital Stationary Night Blindness" "" "0000275098" "04214" "00381247" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Congenital Stationary Night Blindness" "" "0000275099" "04214" "00381248" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Congenital Stationary Night Blindness" "" "0000275100" "04214" "00381249" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Congenital Stationary Night Blindness" "" "0000275101" "04214" "00381250" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Congenital Stationary Night Blindness" "" "0000275102" "04214" "00381251" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Congenital Stationary Night Blindness" "" "0000275103" "04214" "00381252" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Congenital Stationary Night Blindness" "" "0000275104" "04214" "00381253" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Congenital Stationary Night Blindness" "" "0000275118" "04214" "00381267" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Congenital Stationary Night Blindness" "" "0000278229" "04214" "00384444" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000282602" "04214" "00389061" "00000" "Familial, X-linked" "14y" "age at genetic diagnosis mentioned" "" "7y" "" "" "" "" "" "" "congenital stationary night blindness" "" "" "0000282637" "04214" "00389096" "00000" "Familial, X-linked" "68y" "age at genetic diagnosis mentioned" "" "66y" "" "" "" "" "" "" "congenital stationary night blindness" "" "" "0000283864" "04214" "00390326" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000284896" "04214" "00391560" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness" "" "0000284897" "04214" "00391561" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness" "" "0000286742" "04214" "00393536" "00000" "Familial, autosomal recessive" "6y" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa (RP)" "" "0000288779" "04214" "00395581" "00000" "Familial, X-linked dominant" "" "rod-cone dystrophy, cochlear malformation, cerebral hypomyelination, attention deficit hyperactivity disorder, autistic behaviour, global developmental delay, language impairment, generalized hypotonia, recurrent pneumonia, genu valgum, pes planus" "" "" "" "" "" "" "" "" "retinitis pigmentosa, 1q21.1 microduplication syndrome" "Joubert-like syndrome" "" "0000289643" "04214" "00396482" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "Congenital Stationary Night Blindness" "" "" "0000296781" "04214" "00404192" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness (CSNB)" "" "0000296782" "04214" "00404193" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness (CSNB)" "" "0000296783" "04214" "00404194" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness (CSNB)" "" "0000296784" "04214" "00404195" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness (CSNB)" "" "0000296785" "04214" "00404196" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness (CSNB)" "" "0000296786" "04214" "00404197" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness (CSNB)" "" "0000296787" "04214" "00404198" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness (CSNB)" "" "0000296788" "04214" "00404199" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness (CSNB)" "" "0000296789" "04214" "00404200" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness (CSNB)" "" "0000296790" "04214" "00404201" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness (CSNB)" "" "0000296791" "04214" "00404202" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness (CSNB)" "" "0000296792" "04214" "00404203" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness (CSNB)" "" "0000296793" "04214" "00404204" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness (CSNB)" "" "0000296794" "04214" "00404205" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness (CSNB)" "" "0000296795" "04214" "00404206" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness (CSNB)" "" "0000296796" "04214" "00404207" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness (CSNB)" "" "0000296797" "04214" "00404208" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness (CSNB)" "" "0000296798" "04214" "00404209" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness (CSNB)" "" "0000296799" "04214" "00404210" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness (CSNB)" "" "0000296800" "04214" "00404211" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness (CSNB)" "" "0000296801" "04214" "00404212" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness (CSNB)" "" "0000296802" "04214" "00404213" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness (CSNB)" "" "0000296803" "04214" "00404214" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness (XLCSNB)" "" "0000296804" "04214" "00404215" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness (XLCSNB)" "" "0000296805" "04214" "00404216" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness (XLCSNB)" "" "0000296806" "04214" "00404217" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness (XLCSNB)" "" "0000296807" "04214" "00404218" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness (XLCSNB)" "" "0000296808" "04214" "00404219" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness (XLCSNB)" "" "0000296809" "04214" "00404220" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness (XLCSNB)" "" "0000296810" "04214" "00404221" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness (XLCSNB)" "" "0000296811" "04214" "00404222" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness (XLCSNB)" "" "0000296812" "04214" "00404223" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness (XLCSNB)" "" "0000296813" "04214" "00404224" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness (XLCSNB)" "" "0000296814" "04214" "00404225" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness (XLCSNB)" "" "0000296815" "04214" "00404226" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness (XLCSNB)" "" "0000296816" "04214" "00404227" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness (XLCSNB)" "" "0000296817" "04214" "00404228" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness (XLCSNB)" "" "0000296818" "04214" "00404229" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness (XLCSNB)" "" "0000296819" "04214" "00404230" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness (XLCSNB)" "" "0000296820" "04214" "00404231" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness (XLCSNB)" "" "0000296821" "04214" "00404232" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness (XLCSNB)" "" "0000296822" "04214" "00404233" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness (XLCSNB)" "" "0000296823" "04214" "00404234" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness (XLCSNB)" "" "0000296824" "04214" "00404235" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness (XLCSNB)" "" "0000296825" "04214" "00404236" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness (XLCSNB)" "" "0000296826" "04214" "00404237" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness (XLCSNB)" "" "0000296827" "04214" "00404238" "00000" "Familial, X-linked" "" "" "" "" "nyctalopia and myopia" "" "" "" "" "" "" "congenital stationary night blindness (XLCSNB)" "" "0000296828" "04214" "00404239" "00000" "Familial, X-linked recessive" "53y" "" "" "" "nyctalopia and myopia" "" "" "" "" "" "" "congenital stationary night blindness (XLCSNB)" "" "0000296829" "04214" "00404240" "00000" "Familial, X-linked recessive" "38y" "" "" "" "nyctalopia and myopia" "" "" "" "" "" "" "congenital stationary night blindness (XLCSNB)" "" "0000296830" "04214" "00404241" "00000" "Familial, X-linked recessive" "35y" "" "" "" "nyctalopia and myopia" "" "" "" "" "" "" "congenital stationary night blindness (XLCSNB)" "" "0000296831" "04214" "00404242" "00000" "Familial, X-linked recessive" "32y" "" "" "" "nyctalopia and myopia" "" "" "" "" "" "" "congenital stationary night blindness (XLCSNB)" "" "0000296832" "04214" "00404243" "00000" "Familial, X-linked recessive" "31y" "" "" "" "nyctalopia and myopia" "" "" "" "" "" "" "congenital stationary night blindness (XLCSNB)" "" "0000296833" "04214" "00404244" "00000" "Familial, X-linked recessive" "25y" "" "" "" "nyctalopia and myopia" "" "" "" "" "" "" "congenital stationary night blindness (XLCSNB)" "" "0000296834" "04214" "00404245" "00000" "Familial, X-linked recessive" "12y" "" "" "" "nyctalopia and myopia" "" "" "" "" "" "" "congenital stationary night blindness (XLCSNB)" "" "0000296835" "04214" "00404246" "00000" "Familial, X-linked recessive" "7y" "" "" "" "nyctalopia and myopia" "" "" "" "" "" "" "congenital stationary night blindness (XLCSNB)" "" "0000296836" "04214" "00404247" "00000" "Familial, X-linked recessive" "11y" "" "" "" "nyctalopia and myopia" "" "" "" "" "" "" "congenital stationary night blindness (XLCSNB)" "" "0000296837" "04214" "00404248" "00000" "Familial, X-linked recessive" "11y" "" "" "" "nyctalopia and myopia" "" "" "" "" "" "" "congenital stationary night blindness (XLCSNB)" "" "0000296838" "04214" "00404249" "00000" "Familial, X-linked recessive" "4y" "" "" "" "nyctalopia and myopia" "" "" "" "" "" "" "congenital stationary night blindness (XLCSNB)" "" "0000296839" "04214" "00404250" "00000" "Familial, X-linked recessive" "" "" "" "" "nyctalopia and myopia" "" "" "" "" "" "" "congenital stationary night blindness (XLCSNB)" "" "0000296840" "04214" "00404251" "00000" "Familial, X-linked recessive" "8y" "" "" "" "" "" "" "" "" "" "" "high myopia without night blindness" "" "0000296841" "04214" "00404252" "00000" "Familial, X-linked recessive" "" "" "40y" "" "" "" "" "" "" "" "" "high myopia without night blindness" "" "0000296842" "04214" "00404253" "00000" "Familial, X-linked" "70y" "" "" "" "had impaired vision and myopia since childhood, He underwent strabismus surgery as a child" "" "" "" "" "" "" "congenital stationary night blindness (CSNB)" "" "0000296843" "04214" "00404254" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness (CSNB)" "" "0000296844" "04214" "00404255" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness (CSNB)" "" "0000296845" "04214" "00404256" "00000" "Familial, X-linked" "16y" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness (CSNB)" "" "0000296846" "04214" "00404257" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness (CSNB)" "" "0000296847" "04214" "00404258" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness (CSNB)" "" "0000296848" "04214" "00404259" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness (CSNB)" "" "0000296849" "04214" "00404260" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness (CSNB)" "" "0000296850" "04214" "00404261" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness (CSNB)" "" "0000296851" "04214" "00404262" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness (CSNB)" "" "0000296852" "04214" "00404263" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness (CSNB)" "" "0000296853" "04214" "00404264" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness (CSNB)" "" "0000296854" "04214" "00404265" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness (CSNB)" "" "0000296855" "04214" "00404266" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness (CSNB)" "" "0000296856" "04214" "00404267" "00000" "Familial" "17y" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness (CSNB)" "" "0000297736" "04214" "00405187" "00000" "Familial" "45y" "" "4y" "" "" "" "" "" "" "" "" "congenital stationary night blindness complete" "" "0000297737" "04214" "00405188" "00000" "Familial, X-linked" "6y" "" "" "" "non-progressive stable severe night blindness since early childhood and moderate to high myopia" "" "" "" "" "" "" "X-linked congenital stationary night blindness (CSNB1A)" "" "0000297738" "04214" "00405189" "00000" "Familial, X-linked" "16y" "" "" "" "non-progressive stable severe night blindness since early childhood and moderate to high myopia" "" "" "" "" "" "" "X-linked congenital stationary night blindness (CSNB1A)" "" "0000297739" "00000" "00405190" "00000" "-" "18y" "" "" "" "" "" "" "" "" "" "" "Healthy carrier" "" "0000297740" "04214" "00405191" "00000" "Familial, X-linked" "62y" "" "" "" "" "" "" "" "" "" "" "X-linked congenital stationary night blindness (CSNB1A)" "" "0000297741" "04214" "00405192" "00000" "Familial" "7y" "" "5y" "" "" "" "" "" "" "" "" "high myopia congenital stationary night blindness complete" "" "0000297742" "04214" "00405193" "00000" "Familial" "31y" "" "" "" "" "" "" "" "" "" "" "high myopia congenital stationary night blindness complete" "" "0000297743" "04214" "00405194" "00000" "Familial" "11y" "" "" "" "" "" "" "" "" "" "" "high myopia who may or may not have CSNB1" "" "0000297744" "04214" "00405195" "00000" "Familial" "15y" "" "" "" "" "" "" "" "" "" "" "isolated high myopia" "" "0000297745" "04214" "00405196" "00000" "Familial" "37y" "" "" "" "" "" "" "" "" "" "" "isolated high myopia" "" "0000297746" "04214" "00405197" "00000" "Familial" "39y" "" "" "" "" "" "" "" "" "" "" "normal" "" "0000297747" "04214" "00405198" "00000" "Familial" "13y" "" "" "" "" "" "" "" "" "" "" "isolated high myopia" "" "0000297748" "04214" "00405199" "00000" "Familial" "9y" "" "" "" "" "" "" "" "" "" "" "isolated high myopia" "" "0000297749" "04214" "00405200" "00000" "Familial, X-linked" "78y" "" "" "" "night blindness since their early childhood" "" "" "" "" "" "" "complete congenital stationary night blindness (CSNB)" "" "0000297750" "00000" "00405201" "00000" "-" "53y" "" "" "" "decreased visual acuity, variable degrees of myopia, latent nystagmus, and extropia combined with dissociated vertical deviation (DVD)." "" "" "" "" "" "" "Healthy carrier" "" "0000297751" "00000" "00405202" "00000" "-" "47y" "" "" "" "" "" "" "" "" "" "" "Healthy carrier" "" "0000297752" "04214" "00405203" "00000" "Familial, X-linked" "33y" "" "" "" "decreased visual acuity, variable degrees of myopia, latent nystagmus, and extropia combined with dissociated vertical deviation (DVD)." "" "" "" "" "" "" "complete congenital stationary night blindness (CSNB)" "" "0000297753" "00000" "00405204" "00000" "-" "31y" "" "" "" "" "" "" "" "" "" "" "Healthy carrier" "" "0000297754" "04214" "00405205" "00000" "Familial, X-linked" "24y" "" "" "" "decreased visual acuity, variable degrees of myopia, latent nystagmus, and extropia combined with dissociated vertical deviation (DVD)." "" "" "" "" "" "" "complete congenital stationary night blindness (CSNB)" "" "0000297755" "04214" "00405206" "00000" "Familial, X-linked" "22y" "" "" "" "decreased visual acuity, variable degrees of myopia, latent nystagmus, and extropia combined with dissociated vertical deviation (DVD)." "" "" "" "" "" "" "complete congenital stationary night blindness (CSNB)" "" "0000297756" "04214" "00405207" "00000" "Familial, X-linked" "22y" "" "" "" "decreased visual acuity, variable degrees of myopia, latent nystagmus, and extropia combined with dissociated vertical deviation (DVD)." "" "" "" "" "" "" "complete congenital stationary night blindness (CSNB)" "" "0000297757" "04214" "00405208" "00000" "Familial, X-linked" "6y" "" "" "" "decreased visual acuity, variable degrees of myopia, latent nystagmus, and extropia combined with dissociated vertical deviation (DVD)." "" "" "" "" "" "" "complete congenital stationary night blindness (CSNB)" "" "0000297758" "04214" "00405209" "00000" "Familial, X-linked" "35y" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness (CSNB)" "" "0000297759" "00000" "00405210" "00000" "-" "32y" "" "" "" "" "" "" "" "" "" "" "Healthy carrier" "" "0000297760" "04214" "00405211" "00000" "Familial, X-linked" "7y" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness (CSNB)" "" "0000297761" "04214" "00405212" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness (CSNB)" "" "0000297762" "04214" "00405213" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness (CSNB)" "" "0000297763" "04214" "00405214" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness (CSNB)" "" "0000297764" "04214" "00405215" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness (CSNB)" "" "0000303402" "01980" "00411363" "01164" "Familial, X-linked recessive" "" "Myopia, High myopia, Unilateral cryptorchidism, Hemangioma" "" "" "" "" "" "" "" "" "" "" "" "0000306633" "05130" "00414834" "04364" "Familial, X-linked recessive" "22y" "" "" "" "" "" "" "" "" "" "" "CSNB" "" "0000306638" "05130" "00414839" "04364" "Familial, X-linked recessive" "05y" "" "" "05y" "5y" "" "" "" "" "" "CSNB" "CSNB" "" "0000318052" "04214" "00426914" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness" "congenital stationary night blindness" "" "0000318053" "04214" "00426915" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness" "congenital stationary night blindness" "" "0000318054" "04214" "00426916" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness" "congenital stationary night blindness" "" "0000318057" "04214" "00426919" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness" "Best Vitelliform Macular Dystrophy" "" "0000320414" "00112" "00429542" "04436" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000320756" "04210" "00429884" "04436" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000333479" "05130" "00444226" "00006" "Familial, X-linked recessive" "3y" "see paper; ..., no strabismus, 3-4 Hz pendualr left beating jerk bilateral symmetric nystagmus" "1y" "" "" "" "" "" "" "" "CSNB1A" "congenital stationary night blindness" "" "0000333480" "05130" "00444227" "00006" "Familial, X-linked recessive" "5y" "see paper; ..., strabismus, no nystagmus" "4y" "" "" "" "" "" "" "" "CSNB1A" "congenital stationary night blindness" "" "0000333547" "04214" "00444294" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "visual loss" "" "0000336329" "00198" "00447130" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness" "" "0000336330" "00198" "00447131" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness" "" "0000336748" "00198" "00447549" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness" "" "0000336918" "00198" "00447719" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, simplex" "" ## Screenings ## Do not remove or alter this header ## ## Count = 248 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000209" "00000208" "1" "00037" "00001" "2012-09-13 12:02:03" "" "" "SEQ-NG-I" "DNA" "" "" "0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000033222" "00033154" "1" "00229" "00229" "2012-02-13 09:10:17" "00006" "2012-05-18 13:59:33" "SEQ;SEQ-NG-S" "DNA" "" "" "0000145130" "00144271" "1" "01780" "00006" "2017-11-28 22:45:32" "" "" "SEQ-NG-I" "DNA" "" "" "0000309762" "00308617" "1" "00004" "00006" "2020-08-27 13:01:07" "" "" "SEQ" "DNA" "" "" "0000310406" "00309261" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000310407" "00309262" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000310408" "00309263" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000310409" "00309264" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000310410" "00309265" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000310411" "00309266" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000310412" "00309267" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000321021" "00319840" "1" "00008" "00008" "2020-11-08 09:25:19" "" "" "SEQ" "DNA" "" "" "0000321022" "00319841" "1" "00008" "00008" "2020-11-08 09:25:19" "" "" "SEQ" "DNA" "" "" "0000321023" "00319842" "1" "00008" "00008" "2020-11-08 09:25:19" "" "" "SEQ" "DNA" "" "" "0000321024" "00319843" "1" "00008" "00008" "2020-11-08 09:25:19" "" "" "SEQ" "DNA" "" "" "0000321025" "00319844" "1" "00008" "00008" "2020-11-08 09:25:19" "" "" "SEQ" "DNA" "" "" "0000321026" "00319845" "1" "00008" "00008" "2020-11-08 09:25:19" "" "" "SEQ" "DNA" "" "" "0000321027" "00319846" "1" "00008" "00008" "2020-11-08 09:25:19" "" "" "SEQ" "DNA" "" "" "0000321028" "00319847" "1" "00008" "00008" "2020-11-08 09:25:19" "" "" "SEQ" "DNA" "" "" "0000321029" "00319848" "1" "00008" "00008" "2020-11-08 09:25:19" "" "" "SEQ" "DNA" "" "" "0000321030" "00319849" "1" "00008" "00008" "2020-11-08 09:25:19" "" "" "SEQ" "DNA" "" "" "0000327889" "00326676" "1" "00008" "00008" "2021-01-14 12:28:06" "" "" "DHPLC; SSCA; SEQ" "DNA" "blood" "" "0000327890" "00326677" "1" "00008" "00008" "2021-01-14 12:28:06" "" "" "DHPLC; SSCA; SEQ" "DNA" "blood" "" "0000329131" "00327916" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WES" "0000329346" "00328131" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000329690" "00328475" "1" "00000" "00006" "2021-01-28 09:35:56" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000329691" "00328476" "1" "00000" "00006" "2021-01-28 09:35:56" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000329692" "00328477" "1" "00000" "00006" "2021-01-28 09:35:56" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000329693" "00328478" "1" "00000" "00006" "2021-01-28 09:35:56" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000334860" "00333634" "1" "00000" "00006" "2021-02-26 12:01:19" "" "" "SEQ-NG" "DNA" "" "" "0000334867" "00333641" "1" "00000" "00006" "2021-02-26 12:01:19" "" "" "SEQ-NG" "DNA" "" "" "0000337212" "00335982" "1" "00000" "00006" "2021-03-10 17:05:56" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000375121" "00373889" "1" "00000" "00006" "2021-05-21 15:01:30" "" "" "SEQ-NG" "DNA" "" "238-gene panel" "0000376565" "00375368" "1" "00000" "00006" "2021-06-03 10:21:34" "" "" "SEQ" "DNA" "" "" "0000376566" "00375369" "1" "00000" "00006" "2021-06-03 10:21:34" "" "" "SEQ" "DNA" "" "" "0000376567" "00375370" "1" "00000" "00006" "2021-06-03 10:21:34" "" "" "SEQ" "DNA" "" "" "0000376568" "00375371" "1" "00000" "00006" "2021-06-03 10:21:34" "" "" "SEQ" "DNA" "" "" "0000376569" "00375372" "1" "00000" "00006" "2021-06-03 10:21:34" "" "" "SEQ" "DNA" "" "" "0000376570" "00375373" "1" "00000" "00006" "2021-06-03 10:21:34" "" "" "SEQ" "DNA" "" "" "0000376571" "00375374" "1" "00000" "00006" "2021-06-03 10:21:34" "" "" "SEQ" "DNA" "" "" "0000376572" "00375375" "1" "00000" "00006" "2021-06-03 10:21:34" "" "" "SEQ" "DNA" "" "" "0000376573" "00375376" "1" "00000" "00006" "2021-06-03 10:21:34" "" "" "SEQ" "DNA" "" "" "0000376574" "00375377" "1" "00000" "00006" "2021-06-03 10:21:34" "" "" "SEQ" "DNA" "" "" "0000376575" "00375378" "1" "00000" "00006" "2021-06-03 10:21:34" "" "" "SEQ" "DNA" "" "" "0000376576" "00375379" "1" "00000" "00006" "2021-06-03 10:21:34" "" "" "SEQ" "DNA" "" "" "0000376577" "00375380" "1" "00000" "00006" "2021-06-03 10:21:34" "" "" "SEQ" "DNA" "" "" "0000376578" "00375381" "1" "00000" "00006" "2021-06-03 10:21:34" "" "" "SEQ" "DNA" "" "" "0000376579" "00375382" "1" "00000" "00006" "2021-06-03 10:21:34" "" "" "SEQ" "DNA" "" "" "0000376580" "00375383" "1" "00000" "00006" "2021-06-03 10:21:34" "" "" "SEQ" "DNA" "" "" "0000376581" "00375384" "1" "00000" "00006" "2021-06-03 10:21:34" "" "" "SEQ" "DNA" "" "" "0000376582" "00375385" "1" "00000" "00006" "2021-06-03 10:21:34" "" "" "SEQ" "DNA" "" "" "0000376604" "00375407" "1" "00000" "00006" "2021-06-03 10:21:34" "" "" "SEQ" "DNA" "" "" "0000376605" "00375408" "1" "00000" "00006" "2021-06-03 10:21:34" "" "" "SEQ" "DNA" "" "" "0000377435" "00376239" "1" "00000" "00008" "2021-06-19 02:19:40" "" "" "?" "DNA" "" "Methods described in Aleman 2007, Jacobson 2006, Jacobson 1987 and Roman 2015" "0000377436" "00376240" "1" "00000" "00008" "2021-06-19 02:19:40" "" "" "?" "DNA" "" "Methods described in Aleman 2007, Jacobson 2006, Jacobson 1987 and Roman 2016" "0000377740" "00376535" "1" "00000" "00008" "2021-06-25 02:22:54" "" "" "arraySEQ" "DNA" "" "" "0000377741" "00376536" "1" "00000" "00008" "2021-06-25 02:22:54" "" "" "arraySEQ" "DNA" "" "" "0000377742" "00376537" "1" "00000" "00008" "2021-06-25 02:22:54" "" "" "SEQ; arraySEQ" "DNA" "" "" "0000377743" "00376538" "1" "00000" "00008" "2021-06-25 02:22:54" "" "" "SEQ; arraySEQ" "DNA" "" "" "0000377744" "00376539" "1" "00000" "00008" "2021-06-25 02:22:54" "" "" "SEQ; arraySEQ" "DNA" "" "" "0000377745" "00376540" "1" "00000" "00008" "2021-06-25 02:22:54" "" "" "arraySEQ" "DNA" "" "" "0000377746" "00376541" "1" "00000" "00008" "2021-06-25 02:22:54" "" "" "arraySEQ" "DNA" "" "" "0000377747" "00376542" "1" "00000" "00008" "2021-06-25 02:22:54" "" "" "SEQ; arraySEQ" "DNA" "" "" "0000377748" "00376543" "1" "00000" "00008" "2021-06-25 02:22:54" "" "" "SEQ; arraySEQ" "DNA" "" "" "0000377749" "00376544" "1" "00000" "00008" "2021-06-25 02:22:54" "" "" "arraySEQ" "DNA" "" "" "0000377750" "00376545" "1" "00000" "00008" "2021-06-25 02:22:54" "" "" "arraySEQ" "DNA" "" "" "0000377751" "00376546" "1" "00000" "00008" "2021-06-25 02:22:54" "" "" "arraySEQ" "DNA" "" "" "0000377752" "00376547" "1" "00000" "00008" "2021-06-25 02:22:54" "" "" "SEQ; arraySEQ" "DNA" "" "" "0000377753" "00376548" "1" "00000" "00008" "2021-06-25 02:22:54" "" "" "arraySEQ" "DNA" "" "" "0000377754" "00376549" "1" "00000" "00008" "2021-06-25 02:22:54" "" "" "arraySEQ" "DNA" "" "" "0000377755" "00376550" "1" "00000" "00008" "2021-06-25 02:22:54" "" "" "SEQ; arraySEQ" "DNA" "" "" "0000377756" "00376551" "1" "00000" "00008" "2021-06-25 02:22:54" "" "" "SEQ; arraySEQ" "DNA" "" "" "0000377757" "00376552" "1" "00000" "00008" "2021-06-25 02:22:54" "" "" "arraySEQ" "DNA" "" "" "0000377758" "00376553" "1" "00000" "00008" "2021-06-25 02:22:54" "" "" "arraySEQ" "DNA" "" "" "0000377759" "00376554" "1" "00000" "00008" "2021-06-25 02:22:54" "" "" "SEQ; arraySEQ" "DNA" "" "" "0000377760" "00376555" "1" "00000" "00008" "2021-06-25 02:22:54" "" "" "arraySEQ" "DNA" "" "" "0000377761" "00376556" "1" "00000" "00008" "2021-06-25 02:22:54" "" "" "SEQ; arraySEQ" "DNA" "" "" "0000377762" "00376557" "1" "00000" "00008" "2021-06-25 02:22:54" "" "" "arraySEQ" "DNA" "" "" "0000377763" "00376558" "1" "00000" "00008" "2021-06-25 02:22:54" "" "" "SEQ; arraySEQ" "DNA" "" "" "0000377764" "00376559" "1" "00000" "00008" "2021-06-25 02:22:54" "" "" "arraySEQ" "DNA" "" "" "0000377765" "00376560" "1" "00000" "00008" "2021-06-25 02:22:54" "" "" "arraySEQ" "DNA" "" "" "0000377766" "00376561" "1" "00000" "00008" "2021-06-25 02:22:54" "" "" "SEQ; arraySEQ" "DNA" "" "" "0000377767" "00376562" "1" "00000" "00008" "2021-06-25 02:22:54" "" "" "arraySEQ" "DNA" "" "" "0000377768" "00376563" "1" "00000" "00008" "2021-06-25 02:22:54" "" "" "arraySEQ" "DNA" "" "" "0000377769" "00376564" "1" "00000" "00008" "2021-06-25 02:22:54" "" "" "arraySEQ" "DNA" "" "" "0000377770" "00376565" "1" "00000" "00008" "2021-06-25 02:22:54" "" "" "SEQ; arraySEQ" "DNA" "" "" "0000377771" "00376566" "1" "00000" "00008" "2021-06-25 02:22:54" "" "" "SEQ; arraySEQ" "DNA" "" "" "0000377772" "00376567" "1" "00000" "00008" "2021-06-25 02:22:54" "" "" "arraySEQ" "DNA" "" "" "0000377773" "00376568" "1" "00000" "00008" "2021-06-25 02:22:54" "" "" "SEQ; arraySEQ" "DNA" "" "" "0000377774" "00376569" "1" "00000" "00008" "2021-06-25 02:22:54" "" "" "arraySEQ" "DNA" "" "" "0000377775" "00376570" "1" "00000" "00008" "2021-06-25 02:22:54" "" "" "arraySEQ" "DNA" "" "" "0000377776" "00376571" "1" "00000" "00008" "2021-06-25 02:22:54" "" "" "SEQ; arraySEQ" "DNA" "" "" "0000377856" "00376651" "1" "00000" "00008" "2021-06-25 02:22:54" "" "" "arraySEQ" "DNA" "" "" "0000377857" "00376652" "1" "00000" "00008" "2021-06-25 02:22:54" "" "" "arraySEQ" "DNA" "" "" "0000377858" "00376653" "1" "00000" "00008" "2021-06-25 02:22:54" "" "" "arraySEQ" "DNA" "" "" "0000377859" "00376654" "1" "00000" "00008" "2021-06-25 02:22:54" "" "" "arraySEQ" "DNA" "" "" "0000377860" "00376655" "1" "00000" "00008" "2021-06-25 02:22:54" "" "" "arraySEQ" "DNA" "" "" "0000377861" "00376656" "1" "00000" "00008" "2021-06-25 02:22:54" "" "" "arraySEQ" "DNA" "" "" "0000378207" "00377002" "1" "00000" "00008" "2021-06-29 06:08:50" "" "" "?" "DNA" "" "" "0000380794" "00379595" "1" "00000" "00008" "2021-08-06 03:44:17" "" "" "SEQ" "DNA" "blood" "" "0000380795" "00379596" "1" "00000" "00008" "2021-08-06 03:44:17" "" "" "SEQ" "DNA" "blood" "" "0000380796" "00379597" "1" "00000" "00008" "2021-08-06 03:44:17" "" "" "SEQ" "DNA" "blood" "" "0000381051" "00379849" "1" "00000" "03840" "2021-08-10 08:08:19" "" "" "SEQ-NG" "DNA" "" "panel of 441 hereditary eye disease genes including 291 genes related to IRD" "0000382457" "00381242" "1" "00009" "00008" "2021-08-27 03:00:16" "" "" "PCR;SEQ" "DNA" "blood" "" "0000382458" "00381243" "1" "00009" "00008" "2021-08-27 03:00:16" "" "" "PCR;SEQ" "DNA" "blood" "" "0000382459" "00381244" "1" "00009" "00008" "2021-08-27 03:00:16" "" "" "PCR;SEQ" "DNA" "blood" "" "0000382460" "00381245" "1" "00009" "00008" "2021-08-27 03:00:16" "" "" "PCR;SEQ" "DNA" "blood" "" "0000382461" "00381246" "1" "00009" "00008" "2021-08-27 03:00:16" "" "" "PCR;SEQ" "DNA" "blood" "" "0000382462" "00381247" "1" "00009" "00008" "2021-08-27 03:00:16" "" "" "PCR;SEQ" "DNA" "blood" "" "0000382463" "00381248" "1" "00009" "00008" "2021-08-27 03:00:16" "" "" "PCR;SEQ" "DNA" "blood" "" "0000382464" "00381249" "1" "00009" "00008" "2021-08-27 03:00:16" "" "" "PCR;SEQ" "DNA" "blood" "" "0000382465" "00381250" "1" "00009" "00008" "2021-08-27 03:00:16" "" "" "PCR;SEQ" "DNA" "blood" "" "0000382466" "00381251" "1" "00009" "00008" "2021-08-27 03:00:16" "" "" "PCR;SEQ" "DNA" "blood" "" "0000382467" "00381252" "1" "00009" "00008" "2021-08-27 03:00:16" "" "" "PCR;SEQ" "DNA" "blood" "" "0000382468" "00381253" "1" "00009" "00008" "2021-08-27 03:00:16" "" "" "PCR;SEQ" "DNA" "blood" "" "0000382482" "00381267" "1" "00009" "00008" "2021-08-27 03:00:16" "" "" "PCR;SEQ" "DNA" "blood" "" "0000385669" "00384444" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes" "0000390304" "00389061" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET3 targeted sequencing panel - see paper" "0000390339" "00389096" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET8 targeted sequencing panel - see paper" "0000391567" "00390326" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing" "0000392802" "00391560" "1" "00000" "03840" "2021-11-17 14:55:16" "" "" "?" "DNA" "blood" "NGS gene panel investigation in 60 families, Sanger sequencing in 27 families, and Asper microarray in 25 families" "0000392803" "00391561" "1" "00000" "03840" "2021-11-17 14:55:16" "" "" "?" "DNA" "blood" "NGS gene panel investigation in 60 families, Sanger sequencing in 27 families, and Asper microarray in 25 families" "0000394784" "00393536" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG" "DNA" "" "hereditary eye disease enrichment panel (HEDEP)" "0000396819" "00395581" "1" "00000" "03840" "2021-12-08 14:12:08" "" "" "?" "DNA" "" "clinical exome sequencing | aCGH" "0000397725" "00396482" "1" "00000" "03840" "2021-12-16 12:35:05" "" "" "SEQ-NG-I" "DNA" "blood" "panel of 254 genes implicated in retinopathies" "0000405430" "00404192" "1" "00000" "00008" "2022-02-28 03:03:50" "" "" "PCR;SEQ" "DNA" "tissue-specific" "" "0000405431" "00404193" "1" "00000" "00008" "2022-02-28 03:03:50" "" "" "PCR;SEQ" "DNA" "tissue-specific" "" "0000405432" "00404194" "1" "00000" "00008" "2022-02-28 03:03:50" "" "" "PCR;SEQ" "DNA" "tissue-specific" "" "0000405433" "00404195" "1" "00000" "00008" "2022-02-28 03:03:50" "" "" "PCR;SEQ" "DNA" "tissue-specific" "" "0000405434" "00404196" "1" "00000" "00008" "2022-02-28 03:03:50" "" "" "PCR;SEQ" "DNA" "tissue-specific" "" "0000405435" "00404197" "1" "00000" "00008" "2022-02-28 03:03:50" "" "" "PCR;SEQ" "DNA" "tissue-specific" "" "0000405436" "00404198" "1" "00000" "00008" "2022-02-28 03:03:50" "" "" "PCR;SEQ" "DNA" "tissue-specific" "" "0000405437" "00404199" "1" "00000" "00008" 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"0000376575" "NYX" "0000376576" "NYX" "0000376577" "NYX" "0000376578" "NYX" "0000376579" "NYX" "0000376580" "NYX" "0000376581" "NYX" "0000376582" "NYX" "0000376604" "NYX" "0000376605" "NYX" "0000377435" "NYX" "0000377436" "NYX" "0000377740" "NYX" "0000377741" "NYX" "0000377742" "NYX" "0000377743" "NYX" "0000377744" "NYX" "0000377745" "NYX" "0000377746" "NYX" "0000377747" "NYX" "0000377748" "NYX" "0000377749" "NYX" "0000377750" "NYX" "0000377751" "NYX" "0000377752" "NYX" "0000377753" "NYX" "0000377754" "NYX" "0000377755" "CACNA1F" "0000377755" "NYX" "0000377756" "NYX" "0000377757" "NYX" "0000377758" "NYX" "0000377759" "GRM6" "0000377759" "NYX" "0000377760" "NYX" "0000377761" "NYX" "0000377762" "NYX" "0000377763" "NYX" "0000377764" "NYX" "0000377765" "NYX" "0000377766" "NYX" "0000377767" "NYX" "0000377768" "NYX" "0000377769" "NYX" "0000377770" "NYX" "0000377771" "NYX" "0000377772" "NYX" "0000377773" "NYX" "0000377774" "NYX" "0000377775" "NYX" "0000377776" "NYX" "0000377856" "NYX" "0000377857" "NYX" "0000377858" "NYX" "0000377859" "NYX" "0000377860" "NYX" "0000377861" "NYX" "0000378207" "NYX" "0000380794" "CACNA1F" "0000380794" "GRM6" "0000380794" "NYX" "0000380794" "TRPM1" "0000380795" "CACNA1F" "0000380795" "GRM6" "0000380795" "NYX" "0000380795" "TRPM1" "0000380796" "CACNA1F" "0000380796" "GRM6" "0000380796" "NYX" "0000380796" "TRPM1" "0000381051" "NYX" "0000382457" "NYX" "0000382458" "NYX" "0000382459" "NYX" "0000382460" "NYX" "0000382461" "NYX" "0000382462" "NYX" "0000382463" "NYX" "0000382464" "NYX" "0000382465" "NYX" "0000382466" "NYX" "0000382467" "NYX" "0000382468" "NYX" "0000382482" "NYX" "0000385669" "NYX" "0000390304" "NYX" "0000390339" "NYX" "0000391567" "NYX" "0000392802" "NYX" "0000392803" "NYX" "0000394784" "NYX" "0000396819" "CLCN4" "0000397725" "NYX" "0000405430" "NYX" "0000405431" "NYX" "0000405432" "NYX" "0000405433" "NYX" "0000405434" "NYX" "0000405435" "NYX" "0000405436" "NYX" "0000405437" "NYX" "0000405438" "NYX" "0000405439" "NYX" "0000405440" "NYX" "0000405441" "NYX" "0000405442" "NYX" "0000405443" "NYX" "0000405444" "NYX" "0000405445" "NYX" "0000405446" "NYX" "0000405447" "NYX" "0000405448" "NYX" "0000405449" "NYX" "0000405450" "NYX" "0000405451" "NYX" "0000405452" "NYX" "0000405453" "NYX" "0000405454" "NYX" "0000405455" "NYX" "0000405456" "NYX" "0000405457" "NYX" "0000405458" "NYX" "0000405459" "NYX" "0000405460" "NYX" "0000405461" "NYX" "0000405462" "NYX" "0000405463" "NYX" "0000405464" "NYX" "0000405465" "NYX" "0000405466" "NYX" "0000405467" "NYX" "0000405468" "NYX" "0000405469" "NYX" "0000405470" "NYX" "0000405471" "NYX" "0000405472" "NYX" "0000405473" "NYX" "0000405474" "NYX" "0000405475" "NYX" "0000405476" "NYX" "0000405477" "NYX" "0000405478" "NYX" "0000405479" "NYX" "0000405480" "NYX" "0000405481" "NYX" "0000405482" "NYX" "0000405483" "NYX" "0000405484" "NYX" "0000405485" "NYX" "0000405486" "NYX" "0000405487" "NYX" "0000405488" "NYX" "0000405489" "NYX" "0000405490" "NYX" "0000405491" "NYX" "0000405492" "NYX" "0000405493" "NYX" "0000405494" "NYX" "0000405495" "NYX" "0000405496" "NYX" "0000405497" "NYX" "0000405498" "NYX" "0000405499" "NYX" "0000405500" "NYX" "0000405501" "NYX" "0000405502" "NYX" "0000405503" "NYX" "0000405504" "NYX" "0000405505" "NYX" "0000406429" "NYX" "0000406430" "NYX" "0000406431" "NYX" "0000406432" "NYX" "0000406433" "NYX" "0000406434" "NYX" "0000406435" "NYX" "0000406436" "NYX" "0000406437" "NYX" "0000406438" "NYX" "0000406439" "NYX" "0000406440" "NYX" "0000406441" "NYX" "0000406442" "NYX" "0000406443" "NYX" "0000406444" "NYX" "0000406445" "NYX" "0000406446" "NYX" "0000406447" "NYX" "0000406448" "NYX" "0000406449" "NYX" "0000406450" "NYX" "0000406451" "NYX" "0000406452" "NYX" "0000406453" "NYX" "0000406454" "NYX" "0000406455" "NYX" "0000406456" "NYX" "0000406457" "NYX" "0000412632" "NYX" "0000416093" "NYX" "0000416115" "NYX" "0000416120" "NYX" "0000428234" "NYX" "0000428235" "NYX" "0000428236" "NYX" "0000428239" "NYX" "0000430955" "NYX" "0000431297" "NYX" ## 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 = 311 "{{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}}" "0000006636" "20" "30" "X" "41334661" "41334661" "subst" "0" "00037" "NYX_000002" "g.41334661G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.41475408G>C" "" "likely benign" "" "0000008692" "20" "30" "X" "41334661" "41334661" "subst" "0" "00037" "NYX_000002" "g.41334661G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.41475408G>C" "" "likely benign" "" "0000010897" "0" "30" "X" "41334874" "41334874" "del" "0" "00037" "NYX_000005" "g.41334874del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.41475621del" "" "likely benign" "" "0000060123" "1" "10" "X" "41334100" "41334100" "subst" "0.000132234" "00229" "NYX_000001" "g.41334100G>T" "" "{PMID:Neveling 2012:22334370}" "" "" "predicted benign" "Germline" "no" "" "0" "" "" "g.41474847G>T" "" "benign" "" "0000293335" "0" "10" "X" "41333741" "41333741" "subst" "0.000618166" "02330" "NYX_000012" "g.41333741G>A" "" "" "" "NYX(NM_022567.2):c.1035G>A (p.E345=), NYX(NM_022567.3):c.1020G>A (p.E340=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41474488G>A" "" "benign" "" "0000293336" "0" "50" "X" "41333811" "41333811" "subst" "0" "02330" "NYX_000013" "g.41333811G>T" "" "" "" "NYX(NM_022567.3):c.1090G>T (p.A364S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41474558G>T" "" "VUS" "" "0000293337" "0" "10" "X" "41333886" "41333886" "subst" "0.000876407" "02330" "NYX_000014" "g.41333886C>T" "" "" "" "NYX(NM_022567.2):c.1180C>T (p.L394F), NYX(NM_022567.3):c.1165C>T (p.L389F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41474633C>T" "" "benign" "" "0000293338" "0" "10" "X" "41333923" "41333923" "subst" "0.00157436" "02330" "NYX_000015" "g.41333923C>G" "" "" "" "NYX(NM_022567.3):c.1202C>G (p.A401G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41474670C>G" "" "benign" "" "0000293339" "0" "10" "X" "41333957" "41333957" "subst" "0.000892127" "02330" "NYX_000016" "g.41333957C>T" "" "" "" "NYX(NM_022567.3):c.1236C>T (p.L412=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41474704C>T" "" "benign" "" "0000304685" "0" "10" "X" "41333886" "41333886" "subst" "0.000876407" "01943" "NYX_000014" "g.41333886C>T" "" "" "" "NYX(NM_022567.2):c.1180C>T (p.L394F), NYX(NM_022567.3):c.1165C>T (p.L389F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41474633C>T" "" "benign" "" "0000304686" "0" "10" "X" "41332928" "41332928" "subst" "0.00322397" "01943" "NYX_000006" "g.41332928G>A" "" "" "" "NYX(NM_022567.2):c.222G>A (p.L74=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41473675G>A" "" "benign" "" "0000304687" "0" "50" "X" "41333160" "41333160" "subst" "0" "01943" "NYX_000007" "g.41333160G>A" "" "" "" "NYX(NM_022567.2):c.454G>A (p.E152K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41473907G>A" "" "VUS" "" "0000304688" "0" "30" "X" "41333441" "41333441" "subst" "0" "01943" "NYX_000008" "g.41333441C>G" "" "" "" "NYX(NM_022567.2):c.735C>G (p.L245=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41474188C>G" "" "likely benign" "" "0000304689" "0" "30" "X" "41333517" "41333517" "subst" "0.00011719" "01943" "NYX_000009" "g.41333517C>T" "" "" "" "NYX(NM_022567.2):c.811C>T (p.R271C, p.(Arg271Cys)), NYX(NM_022567.3):c.796C>T (p.R266C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41474264C>T" "" "likely benign" "" "0000304690" "0" "10" "X" "41333611" "41333611" "subst" "3.51735E-5" "01943" "NYX_000010" "g.41333611C>T" "" "" "" "NYX(NM_022567.2):c.905C>T (p.S302L, p.(Ser302Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41474358C>T" "" "benign" "" "0000304691" "0" "70" "X" "41333626" "41333626" "subst" "0" "01943" "NYX_000011" "g.41333626T>C" "" "" "" "NYX(NM_022567.2):c.920T>C (p.L307P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41474373T>C" "" "likely pathogenic" "" "0000333813" "0" "50" "X" "41333611" "41333611" "subst" "3.51735E-5" "01804" "NYX_000010" "g.41333611C>T" "" "" "" "NYX(NM_022567.2):c.905C>T (p.S302L, p.(Ser302Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41474358C>T" "" "VUS" "" "0000342661" "0" "50" "X" "41333709" "41333709" "subst" "1.15984E-5" "02327" "NYX_000019" "g.41333709C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41474456C>T" "" "VUS" "" "0000344079" "0" "50" "X" "41333869" "41333869" "subst" "0" "02327" "NYX_000020" "g.41333869A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41474616A>C" "" "VUS" "" "0000348241" "0" "50" "X" "41333230" "41333230" "subst" "0" "02327" "NYX_000018" "g.41333230C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41473977C>T" "" "VUS" "" "0000575972" "0" "70" "X" "41332969" "41332969" "subst" "0" "02330" "NYX_000021" "g.41332969T>G" "" "" "" "NYX(NM_022567.3):c.248T>G (p.L83W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41473716T>G" "" "likely pathogenic" "" "0000575973" "0" "30" "X" "41333231" "41333231" "subst" "0" "01943" "NYX_000022" "g.41333231G>C" "" "" "" "NYX(NM_022567.2):c.525G>C (p.P175=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41473978G>C" "" "likely benign" "" "0000575974" "0" "30" "X" "41333322" "41333322" "subst" "0" "01804" "NYX_000023" "g.41333322C>T" "" "" "" "NYX(NM_022567.2):c.616C>T (p.(Arg206Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41474069C>T" "" "likely benign" "" "0000575975" "0" "10" "X" "41333453" "41333453" "subst" "0.000529159" "02330" "NYX_000024" "g.41333453C>T" "" "" "" "NYX(NM_022567.3):c.732C>T (p.A244=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41474200C>T" "" "benign" "" "0000575976" "0" "30" "X" "41333517" "41333517" "subst" "0.00011719" "01804" "NYX_000009" "g.41333517C>T" "" "" "" "NYX(NM_022567.2):c.811C>T (p.R271C, p.(Arg271Cys)), NYX(NM_022567.3):c.796C>T (p.R266C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41474264C>T" "" "likely benign" "" "0000575977" "0" "90" "X" "41333641" "41333641" "subst" "0" "01943" "NYX_000025" "g.41333641A>G" "" "" "" "NYX(NM_022567.2):c.935A>G (p.N312S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41474388A>G" "" "pathogenic" "" "0000575978" "0" "30" "X" "41333741" "41333741" "subst" "0.000618166" "01943" "NYX_000012" "g.41333741G>A" "" "" "" "NYX(NM_022567.2):c.1035G>A (p.E345=), NYX(NM_022567.3):c.1020G>A (p.E340=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41474488G>A" "" "likely benign" "" "0000575979" "0" "50" "X" "41333857" "41333857" "subst" "0" "01943" "NYX_000026" "g.41333857G>A" "" "" "" "NYX(NM_022567.2):c.1151G>A (p.G384D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41474604G>A" "" "VUS" "" "0000575980" "0" "10" "X" "41333904" "41333904" "subst" "0.00227111" "01943" "NYX_000027" "g.41333904G>A" "" "" "" "NYX(NM_022567.2):c.1198G>A (p.G400S), NYX(NM_022567.3):c.1183G>A (p.G395S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41474651G>A" "" "benign" "" "0000575982" "0" "30" "X" "41333950" "41333950" "subst" "0.000782848" "01804" "NYX_000028" "g.41333950G>A" "" "" "" "NYX(NM_022567.2):c.1244G>A (p.(Ser415Asn)), NYX(NM_022567.3):c.1229G>A (p.S410N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41474697G>A" "" "likely benign" "" "0000619559" "0" "50" "X" "41333158" "41333158" "subst" "0" "02327" "NYX_000030" "g.41333158C>T" "" "" "" "NYX(NM_022567.2):c.452C>T (p.P151L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41473905C>T" "" "VUS" "" "0000619560" "0" "30" "X" "41333479" "41333479" "subst" "0.00125019" "02330" "NYX_000031" "g.41333479C>T" "" "" "" "NYX(NM_022567.3):c.758C>T (p.T253M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41474226C>T" "" "likely benign" "" "0000619561" "0" "50" "X" "41333575" "41333575" "subst" "0" "02327" "NYX_000032" "g.41333575T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41474322T>A" "" "VUS" "" "0000619562" "0" "70" "X" "41333641" "41333641" "subst" "0" "02327" "NYX_000025" "g.41333641A>G" "" "" "" "NYX(NM_022567.2):c.935A>G (p.N312S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41474388A>G" "" "likely pathogenic" "" "0000619563" "0" "50" "X" "41333661" "41333661" "subst" "5.81761E-6" "01943" "NYX_000033" "g.41333661T>A" "" "" "" "NYX(NM_022567.2):c.955T>A (p.W319R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41474408T>A" "" "VUS" "" "0000619564" "0" "10" "X" "41333904" "41333904" "subst" "0.00227111" "02330" "NYX_000027" "g.41333904G>A" "" "" "" "NYX(NM_022567.2):c.1198G>A (p.G400S), NYX(NM_022567.3):c.1183G>A (p.G395S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41474651G>A" "" "benign" "" "0000619565" "0" "30" "X" "41334093" "41334093" "subst" "0" "01943" "NYX_000034" "g.41334093G>A" "" "" "" "NYX(NM_022567.2):c.1387G>A (p.A463T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41474840G>A" "" "likely benign" "" "0000624616" "0" "50" "X" "41332770" "41332770" "subst" "0" "02330" "NYX_000029" "g.41332770T>C" "" "" "" "NYX(NM_022567.3):c.49T>C (p.W17R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41473517T>C" "" "VUS" "" "0000659301" "0" "70" "X" "41332798" "41332798" "subst" "0" "02327" "NYX_000035" "g.41332798G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41473545G>A" "" "likely pathogenic" "" "0000659302" "0" "90" "X" "41333874" "41333874" "subst" "0" "02327" "NYX_000036" "g.41333874G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41474621G>T" "" "pathogenic" "" "0000659303" "0" "50" "X" "41334022" "41334022" "subst" "7.28555E-6" "01943" "NYX_000037" "g.41334022A>G" "" "" "" "NYX(NM_022567.2):c.1316A>G (p.N439S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41474769A>G" "" "VUS" "" "0000682432" "0" "50" "X" "41333727" "41333727" "subst" "5.81108E-6" "01943" "NYX_000038" "g.41333727G>A" "" "" "" "NYX(NM_022567.2):c.1021G>A (p.D341N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000682433" "0" "30" "X" "41334061" "41334061" "subst" "0" "01943" "NYX_000039" "g.41334061G>A" "" "" "" "NYX(NM_022567.2):c.1355G>A (p.G452E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000684635" "3" "70" "X" "41333792" "41333792" "del" "0" "00004" "NYX_000045" "g.41333792del" "1/899 cases" "{PMID:Holtan 2020:31429209}" "" "" "" "Germline" "" "" "0" "" "" "g.41474539del" "" "likely pathogenic (recessive)" "" "0000685317" "0" "90" "X" "0" "0" "" "0" "00004" "USP9X_000005" "g.?" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "NM_022567.2:c.38_ 1446del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000685318" "0" "70" "X" "41333056" "41333056" "subst" "0" "00004" "NYX_000040" "g.41333056T>A" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000685319" "0" "70" "X" "41333202" "41333202" "subst" "0" "00004" "NYX_000041" "g.41333202G>C" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000685320" "0" "90" "X" "41333503" "41333503" "subst" "0" "00004" "NYX_000042" "g.41333503T>C" "2/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000685321" "0" "70" "X" "41333724" "41333724" "subst" "0" "00004" "NYX_000043" "g.41333724T>G" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000685322" "0" "90" "X" "41333775" "41333776" "del" "0" "00004" "NYX_000044" "g.41333775_41333776del" "4/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "c.1069_1070delGT" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000685323" "0" "90" "X" "41333967" "41333968" "dup" "0" "00004" "NYX_000046" "g.41333967_41333968dup" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000693589" "0" "90" "X" "41334094" "41334100" "del" "0" "01943" "NYX_000047" "g.41334094_41334100del" "" "" "" "NYX(NM_022567.2):c.1388_1394delCCTCTTG (p.A463Vfs*95), NYX(NM_022567.3):c.1373_1379delCCTCTTG (p.A458Vfs*95)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000703794" "1" "50" "X" "41307180" "41307180" "subst" "0" "00008" "NYX_000048" "g.41307180G>C" "" "{PMID:Zito 2003:12552565}" "" "c.37+1G>C (Splicing)" "" "Germline" "yes" "" "0" "" "" "" "" "VUS" "" "0000703795" "1" "50" "X" "41332757" "41332773" "del" "0" "00008" "NYX_000049" "g.41332757_41332773del" "" "{PMID:Zito 2003:12552565}" "" "c.48_64del17 (Frameshift)" "" "Germline" "yes" "" "0" "" "" "" "" "VUS" "" "0000703796" "1" "50" "X" "41333045" "41333059" "del" "0" "00008" "NYX_000050" "g.41333045_41333059del" "" "{PMID:Zito 2003:12552565}" "" "c.339_353del15 (E114_A118del)" "" "Germline" "yes" "" "0" "" "" "" "" "VUS" "" "0000703797" "1" "50" "X" "41333353" "41333353" "subst" "0" "00008" "NYX_000051" "g.41333353A>G" "" "{PMID:Zito 2003:12552565}" "" "c.647A>G (N216S)" "" "Germline" "yes" "" "0" "" "" "" "" "VUS" "" "0000703798" "1" "50" "X" "41333601" "41333601" "subst" "0" "00008" "NYX_000052" "g.41333601C>T" "" "{PMID:Zito 2003:12552565}" "" "c.895C>T (Q299X)" "" "Germline" "yes" "" "0" "" "" "" "" "VUS" "" "0000703799" "1" "50" "X" "41333828" "41334163" "del" "0" "00008" "NYX_000053" "g.41333828_41334163del" "" "{PMID:Zito 2003:12552565}" "" "c.1122_1457del335 (Frameshift)" "" "Germline" "yes" "" "0" "" "" "" "" "VUS" "" "0000703800" "1" "50" "X" "41334014" "41334014" "del" "0" "00008" "NYX_000054" "g.41334014del" "" "{PMID:Zito 2003:12552565}" "" "c.1309delG (Frameshift)" "" "Germline" "yes" "" "0" "" "" "" "" "VUS" "" "0000711682" "1" "70" "X" "41332875" "41332875" "subst" "0" "00008" "NYX_000055" "g.41332875C>A" "" "{PMID:Zeitz 2005:15761389}" "" "AJ278865: 169C>A (P57T)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000711683" "1" "70" "X" "41332897" "41332897" "subst" "0" "00008" "NYX_000056" "g.41332897C>A" "" "{PMID:Zeitz 2005:15761389}" "" "AJ278865: 191C>A (A64E)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000713254" "20" "90" "X" "41333696" "41333701" "del" "0" "00000" "NYX_000061" "g.41333696_41333701del" "" "{PMID:Carss 2017:28041643}" "" "X:41333695GCCTCTT>G ENST00000342595.2:c.998_1003delTCTTCC (Leu333_Phe334del)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000713469" "20" "90" "X" "41333642" "41333642" "subst" "0" "00000" "NYX_000060" "g.41333642C>G" "" "{PMID:Carss 2017:28041643}" "" "X:41333642C>G ENST00000342595.2:c.936C>G (Asn312Lys)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000714047" "20" "70" "X" "41332918" "41332918" "subst" "0" "00000" "NYX_000058" "g.41332918G>C" "" "{PMID:Taylor 2017:28341476}" "" "" "" "Germline" "" "" "0" "" "" "g.41473665G>C" "" "likely pathogenic" "" "0000714048" "20" "70" "X" "41332791" "41332814" "del" "0" "00000" "NYX_000017" "g.41332791_41332814del" "" "{PMID:Taylor 2017:28341476}" "" "" "" "Germline" "" "" "0" "" "" "g.41473538_41473561del" "" "likely pathogenic" "" "0000714049" "20" "70" "X" "41332922" "41332922" "subst" "0" "00000" "NYX_000059" "g.41332922C>G" "" "{PMID:Taylor 2017:28341476}" "" "" "" "Germline" "" "" "0" "" "" "g.41473669C>G" "" "likely pathogenic" "" "0000714050" "20" "70" "X" "41332812" "41332817" "del" "0" "00000" "NYX_000057" "g.41332812_41332817del" "" "{PMID:Taylor 2017:28341476}" "" "" "" "Germline" "" "" "0" "" "" "g.41473559_41473564del" "" "likely pathogenic" "" "0000728899" "0" "50" "X" "41333305" "41333305" "subst" "0" "02330" "NYX_000062" "g.41333305G>A" "" "" "" "NYX(NM_022567.3):c.584G>A (p.S195N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000728900" "0" "30" "X" "41333644" "41333644" "subst" "0" "01943" "NYX_000063" "g.41333644G>A" "" "" "" "NYX(NM_022567.2):c.938G>A (p.R313H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000732867" "0" "70" "X" "41333709" "41333709" "subst" "1.15984E-5" "00000" "NYX_000019" "g.41333709C>T" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.41474456C>T" "" "likely pathogenic" "" "0000732874" "0" "70" "X" "41333626" "41333626" "subst" "0" "00000" "NYX_000064" "g.41333626T>G" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.41474373T>G" "" "likely pathogenic" "" "0000736842" "1" "50" "X" "41332812" "41332817" "del" "0" "00000" "NYX_000057" "g.41332812_41332817del" "1/486 individuals" "{PMID:Sergouniotis 2016:27628848}" "" "" "no genotypes reported" "Germline" "" "" "0" "" "" "g.41473559_41473564del" "" "VUS" "" "0000784165" "0" "50" "X" "41333908" "41333908" "subst" "5.33757E-5" "00000" "NYX_000065" "g.41333908C>G" "1/205‡" "{PMID:Xu 2015:25999675}" "" "" "" "Germline" "" "" "0" "" "" "g.41474655C>G" "" "VUS" "" "0000786416" "0" "90" "X" "41333593" "41333593" "subst" "0" "00000" "NYX_000066" "g.41333593G>T" "" "{PMID:Consugar 2015:25412400}" "" "" "" "Germline" "yes" "" "0" "" "" "g.41474340G>T" "" "pathogenic" "" "0000788200" "1" "70" "X" "41332791" "41332814" "del" "0" "00000" "NYX_000017" "g.41332791_41332814del" "" "{PMID:Zeitz 2015:25307992}" "" "85_108del24nt" "no genotype reported" "Germline" "" "" "0" "" "" "g.41473538_41473561del" "" "likely pathogenic" "" "0000788201" "1" "70" "X" "41332798" "41332798" "subst" "0" "00000" "NYX_000035" "g.41332798G>A" "" "{PMID:Zeitz 2015:25307992}" "" "" "no genotype reported" "Germline" "" "" "0" "" "" "g.41473545G>A" "" "likely pathogenic" "" "0000788202" "1" "70" "X" "41332843" "41332843" "subst" "0" "00000" "NYX_000067" "g.41332843T>G" "" "{PMID:Zeitz 2015:25307992}" "" "" "no genotype reported" "Germline" "" "" "0" "" "" "g.41473590T>G" "" "likely pathogenic" "" "0000788203" "1" "70" "X" "41332846" "41332846" "subst" "0" "00000" "NYX_000068" "g.41332846G>C" "" "{PMID:Zeitz 2015:25307992}" "" "" "no genotype reported" "Germline" "" "" "0" "" "" "g.41473593G>C" "" "likely pathogenic" "" "0000788204" "1" "70" "X" "41333045" "41333059" "del" "0" "00000" "NYX_000050" "g.41333045_41333059del" "" "{PMID:Zeitz 2015:25307992}" "" "339_353del15nt" "no genotype reported" "Germline" "" "" "0" "" "" "g.41473792_41473806del" "" "likely pathogenic" "" "0000788205" "1" "70" "X" "41333056" "41333056" "subst" "0" "00000" "NYX_000069" "g.41333056T>C" "" "{PMID:Zeitz 2015:25307992}" "" "" "no genotype reported" "Germline" "" "" "0" "" "" "g.41473803T>C" "" "likely pathogenic" "" "0000788206" "1" "70" "X" "41333056" "41333056" "subst" "0" "00000" "NYX_000040" "g.41333056T>A" "" "{PMID:Zeitz 2015:25307992}" "" "" "no genotype reported" "Germline" "" "" "0" "" "" "g.41473803T>A" "" "likely pathogenic" "" "0000788207" "1" "70" "X" "41333074" "41333074" "subst" "0" "00000" "NYX_000070" "g.41333074T>G" "" "{PMID:Zeitz 2015:25307992}" "" "" "no genotype reported" "Germline" "" "" "0" "" "" "g.41473821T>G" "" "likely pathogenic" "" "0000788208" "1" "70" "X" "41333131" "41333131" "subst" "0" "00000" "NYX_000071" "g.41333131T>C" "" "{PMID:Zeitz 2015:25307992}" "" "" "no genotype reported" "Germline" "" "" "0" "" "" "g.41473878T>C" "" "likely pathogenic" "" "0000788209" "1" "70" "X" "41333188" "41333188" "subst" "0" "00000" "NYX_000072" "g.41333188T>G" "" "{PMID:Zeitz 2015:25307992}" "" "" "no genotype reported" "Germline" "" "" "0" "" "" "g.41473935T>G" "" "likely pathogenic" "" "0000788210" "1" "70" "X" "41333279" "41333280" "ins" "0" "00000" "NYX_000073" "g.41333279_41333280insATCGA" "" "{PMID:Zeitz 2015:25307992}" "" "" "no genotype reported" "Germline" "" "" "0" "" "" "g.41474026_41474027insATCGA" "" "likely pathogenic" "" "0000788211" "1" "70" "X" "41333313" "41333313" "subst" "0" "00000" "NYX_000074" "g.41333313C>T" "" "{PMID:Zeitz 2015:25307992}" "" "" "no genotype reported" "Germline" "" "" "0" "" "" "g.41474060C>T" "" "likely pathogenic" "" "0000788212" "1" "70" "X" "41333488" "41333488" "subst" "0" "00000" "NYX_000075" "g.41333488T>C" "" "{PMID:Zeitz 2015:25307992}" "" "" "no genotype reported" "Germline" "" "" "0" "" "" "g.41474235T>C" "" "likely pathogenic" "" "0000788213" "1" "70" "X" "41333554" "41333555" "ins" "0" "00000" "NYX_000076" "g.41333554_41333555insAT" "" "{PMID:Zeitz 2015:25307992}" "" "" "no genotype reported" "Germline" "" "" "0" "" "" "g.41474301_41474302insAT" "" "likely pathogenic" "" "0000788214" "1" "70" "X" "41333560" "41333560" "subst" "0" "00000" "NYX_000077" "g.41333560T>G" "" "{PMID:Zeitz 2015:25307992}" "" "" "no genotype reported" "Germline" "" "" "0" "" "" "g.41474307T>G" "" "likely pathogenic" "" "0000788215" "1" "70" "X" "41333744" "41333744" "subst" "0" "00000" "NYX_000078" "g.41333744G>T" "" "{PMID:Zeitz 2015:25307992}" "" "" "no genotype reported" "Germline" "" "" "0" "" "" "g.41474491G>T" "" "likely pathogenic" "" "0000788216" "1" "70" "X" "41333849" "41333861" "del" "0" "00000" "NYX_000079" "g.41333849_41333861del" "" "{PMID:Zeitz 2015:25307992}" "" "" "no genotype reported" "Germline" "" "" "0" "" "" "g.41474596_41474608del" "" "likely pathogenic" "" "0000788217" "1" "70" "X" "41334105" "41334106" "ins" "0" "00000" "NYX_000080" "g.41334105_41334106insGA" "" "{PMID:Zeitz 2015:25307992}" "" "" "no genotype reported" "Germline" "" "" "0" "" "" "g.41474852_41474853insGA" "" "likely pathogenic" "" "0000788239" "1" "70" "X" "41333131" "41333131" "subst" "0" "00000" "NYX_000071" "g.41333131T>C" "" "{PMID:Zeitz 2015:25307992}" "" "" "no genotype reported" "Germline" "" "" "0" "" "" "g.41473878T>C" "" "likely pathogenic" "" "0000788240" "1" "70" "X" "41333279" "41333280" "ins" "0" "00000" "NYX_000073" "g.41333279_41333280insATCGA" "" "{PMID:Zeitz 2015:25307992}" "" "" "no genotype reported" "Germline" "" "" "0" "" "" "g.41474026_41474027insATCGA" "" "likely pathogenic" "" "0000789762" "0" "90" "X" "0" "0" "" "0" "00000" "USP9X_000005" "g.?" "" "{PMID:Jacobson 2008:18463160}" "" "CSNB1A (NYX):p.Trp350X" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000789763" "0" "90" "X" "0" "0" "" "0" "00000" "USP9X_000005" "g.?" "" "{PMID:Jacobson 2008:18463160}" "" "CSNB1A (NYX): p.Leu205_Arg207dup" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000790165" "0" "50" "X" "41307180" "41307180" "subst" "0" "00000" "NYX_000048" "g.41307180G>C" "" "{PMID:Zeitz-2009:19578023}" "" "AJ278865: c.37+1G>C" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000790166" "0" "50" "X" "41332754" "41332770" "del" "0" "00000" "NYX_000081" "g.41332754_41332770del17" "" "{PMID:Zeitz-2009:19578023}" "" "c.48_64del17 (p.Leu18ArgfsX91)" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000790167" "0" "50" "X" "41332771" "41332771" "subst" "0" "00000" "NYX_000082" "g.41332771G>A" "" "{PMID:Zeitz-2009:19578023}" "" "AJ278865: c.65G>A" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000790168" "0" "50" "X" "41332798" "41332798" "subst" "0" "00000" "NYX_000083" "g.41332798G>C" "" "{PMID:Zeitz-2009:19578023}" "" "AJ278865: c.92G>C" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000790169" "0" "50" "X" "41332811" "41332811" "subst" "0" "00000" "NYX_000084" "g.41332811C>A" "" "{PMID:Zeitz-2009:19578023}" "" "AJ278865: c.105C>A" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000790170" "0" "50" "X" "41332849" "41332849" "subst" "0" "00000" "NYX_000085" "g.41332849G>A" "" "{PMID:Zeitz-2009:19578023}" "" "AJ278865: c.143G>A" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000790171" "0" "50" "X" "41332875" "41332875" "subst" "0" "00000" "NYX_000055" "g.41332875C>A" "" "{PMID:Zeitz-2009:19578023}" "" "AJ278865: c.169C>A" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000790172" "0" "50" "X" "41332893" "41332893" "subst" "0" "00000" "NYX_000086" "g.41332893G>T" "" "{PMID:Zeitz-2009:19578023}" "" "c.187 G>T (p.Glu63Stop)" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000790173" "0" "50" "X" "41332897" "41332897" "subst" "0" "00000" "NYX_000056" "g.41332897C>A" "" "{PMID:Zeitz-2009:19578023}" "" "AJ278865: c.191C>A" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000790174" "0" "50" "X" "41332987" "41332987" "subst" "0" "00000" "NYX_000087" "g.41332987G>C" "" "{PMID:Zeitz-2009:19578023}" "" "AJ278865: c.281G>C" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000790175" "0" "50" "X" "41333008" "41333010" "del" "0" "00000" "NYX_000089" "g.41333008_41333010delTCA" "" "{PMID:Zeitz-2009:19578023}" "" "c.302_304delTCA (p.Ile101del)" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000790176" "0" "50" "X" "41333008" "41333008" "subst" "0" "00000" "NYX_000088" "g.41333008T>C" "" "{PMID:Zeitz-2009:19578023}" "" "AJ278865: c.302T>C" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000790177" "0" "50" "X" "41333133" "41333133" "subst" "0" "00000" "NYX_000090" "g.41333133G>C" "" "{PMID:Zeitz-2009:19578023}" "" "AJ278865: c.427G>C" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000790178" "0" "50" "X" "41333158" "41333158" "subst" "0" "00000" "NYX_000030" "g.41333158C>T" "" "{PMID:Zeitz-2009:19578023}" "" "AJ278865: c.452C>T" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000790179" "0" "50" "X" "41333151" "41333171" "dup" "0" "00000" "NYX_000091" "g.41333151_41333171dup" "" "{PMID:Zeitz-2009:19578023}" "" "AJ278865: c.445_465dup" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000790180" "20" "90" "X" "41333224" "41333224" "subst" "0" "00000" "NYX_000092" "g.41333224G>C" "" "{PMID:Zeitz-2009:19578023}" "" "AJ278865: c.518G>C" "hemizygous" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000790182" "0" "50" "X" "41333230" "41333230" "subst" "0" "00000" "NYX_000093" "g.41333230C>G" "" "{PMID:Zeitz-2009:19578023}" "" "AJ278865: c.524C>G" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000790183" "0" "50" "X" "41333257" "41333257" "subst" "0" "00000" "NYX_000094" "g.41333257T>C" "" "{PMID:Zeitz-2009:19578023}" "" "AJ278865: c.551T>C" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000790184" "0" "50" "X" "41333265" "41333266" "delins" "0" "00000" "NYX_000095" "g.41333265_41333266delinsAA" "" "{PMID:Zeitz-2009:19578023}" "" "AJ278865: c.559_560delinsAA" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000790185" "0" "90" "X" "41333313" "41333313" "subst" "0" "00000" "NYX_000074" "g.41333313C>T" "" "{PMID:Zeitz-2009:19578023}" "" "AJ278865: c.607C>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000790187" "0" "50" "X" "41333344" "41333344" "subst" "0" "00000" "NYX_000096" "g.41333344T>A" "" "{PMID:Zeitz-2009:19578023}" "" "AJ278865: c.638T>A" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000790188" "0" "90" "X" "41333353" "41333353" "subst" "0" "00000" "NYX_000051" "g.41333353A>G" "" "{PMID:Zeitz-2009:19578023}" "" "AJ278865: c.647A>G" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000790189" "0" "50" "X" "41333401" "41333401" "subst" "0" "00000" "NYX_000097" "g.41333401T>C" "" "{PMID:Zeitz-2009:19578023}" "" "AJ278865: c.695T>C" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000790190" "0" "50" "X" "41333433" "41333444" "del" "0" "00000" "NYX_000098" "g.41333433_41333444del12" "" "{PMID:Zeitz-2009:19578023}" "" "c.727_738del12 (p.Ala243_Pro246del)" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000790191" "0" "50" "X" "41333498" "41333498" "subst" "0" "00000" "NYX_000099" "g.41333498C>G" "" "{PMID:Zeitz-2009:19578023}" "" "AJ278865: c.792C>G" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000790192" "0" "50" "X" "41333560" "41333560" "subst" "0" "00000" "NYX_000100" "g.41333560T>C" "" "{PMID:Zeitz-2009:19578023}" "" "AJ278865: c.854T>C" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000790193" "0" "50" "X" "41333561" "41333561" "del" "0" "00000" "NYX_000101" "g.41333561delG" "" "{PMID:Zeitz-2009:19578023}" "" "c.855delG (p.Asp286ThrfsX62)" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000790194" "0" "50" "X" "41333599" "41333599" "subst" "0" "00000" "NYX_000102" "g.41333599T>C" "" "{PMID:Zeitz-2009:19578023}" "" "AJ278865: c.893T>C" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000790195" "0" "50" "X" "41333601" "41333601" "subst" "0" "00000" "NYX_000052" "g.41333601C>T" "" "{PMID:Zeitz-2009:19578023}" "" "AJ278865: c.895C>T" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000790196" "0" "50" "X" "41333626" "41333626" "subst" "0" "00000" "NYX_000011" "g.41333626T>C" "" "{PMID:Zeitz-2009:19578023}" "" "AJ278865: c.920T>C" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000790197" "0" "50" "X" "41333641" "41333641" "subst" "0" "00000" "NYX_000025" "g.41333641A>G" "" "{PMID:Zeitz-2009:19578023}" "" "AJ278865: c.935A>G" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000790198" "0" "90" "X" "41333746" "41333746" "subst" "0" "00000" "NYX_000103" "g.41333746T>C" "" "{PMID:Zeitz-2009:19578023}" "" "AJ278865: c.1040T>C" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000790199" "0" "50" "X" "41333755" "41333755" "subst" "1.17883E-5" "00000" "NYX_000104" "g.41333755G>A" "" "{PMID:Zeitz-2009:19578023}" "" "AJ278865: c.1049G>A" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000790200" "0" "50" "X" "41333815" "41333815" "subst" "0" "00000" "NYX_000105" "g.41333815G>T" "" "{PMID:Zeitz-2009:19578023}" "" "AJ278865: c.1109G>T" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000790201" "0" "50" "X" "41333828" "41334163" "del" "0" "00000" "NYX_000106" "g.41333828_41334163del336" "" "{PMID:Zeitz-2009:19578023}" "" "c.1122_1457del336 (p.Ser374ArgfsX10)" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000790202" "0" "50" "X" "41334015" "41334015" "del" "0" "00000" "NYX_000107" "g.41334015delC" "" "{PMID:Zeitz-2009:19578023}" "" "c.1309delC (p.Leu347TrpfsX123)" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000790203" "0" "50" "X" "41334076" "41334093" "del" "0" "00000" "NYX_000108" "g.41334076_41334093del18" "" "{PMID:Zeitz-2009:19578023}" "" "c.1370_1387del18 (p.Gln457_Ala463delinsPro)" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000790285" "0" "50" "X" "41332791" "41332814" "del" "0" "00000" "NYX_000017" "g.41332791_41332814del24" "" "{PMID:Zeitz-2009:19578023}" "" "c.85_108del24 (p.Arg29_Ala36del)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000790286" "0" "50" "X" "41332849" "41332849" "subst" "0" "00000" "NYX_000085" "g.41332849G>A" "" "{PMID:Zeitz-2009:19578023}" "" "AJ278865: c.143G>A" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000790287" "0" "50" "X" "41333230" "41333230" "subst" "0" "00000" "NYX_000093" "g.41333230C>G" "" "{PMID:Zeitz-2009:19578023}" "" "AJ278865: c.524C>G" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000790288" "0" "50" "X" "41333561" "41333561" "del" "0" "00000" "NYX_000101" "g.41333561delG" "" "{PMID:Zeitz-2009:19578023}" "" "c.855delG (p.Asp286ThrX62)" "" "Germline" "yes" "" "0" "" "" "" "" "VUS" "" "0000790289" "0" "50" "X" "41333561" "41333561" "del" "0" "00000" "NYX_000101" "g.41333561delG" "" "{PMID:Zeitz-2009:19578023}" "" "c.855delG (p.Asp286ThrX62)" "" "Germline" "yes" "" "0" "" "" "" "" "VUS" "" "0000790290" "0" "50" "X" "41333561" "41333561" "del" "0" "00000" "NYX_000101" "g.41333561delG" "" "{PMID:Zeitz-2009:19578023}" "" "c.855delG (p.Asp286ThrX62)" "" "Germline" "yes" "" "0" "" "" "" "" "VUS" "" "0000790892" "0" "70" "X" "41332999" "41332999" "subst" "0" "00000" "NYX_000109" "g.41332999T>C" "" "{PMID:Simonsz-2009:20001510}" "" "c.293T>C (p.Leu98Pro)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000793990" "0" "70" "X" "41332798" "41332798" "subst" "0" "00000" "NYX_000035" "g.41332798G>A" "0/96 controls" "{PMID:Wang-2012:22735794}" "" "c.92G>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000793991" "0" "70" "X" "41332855" "41332855" "subst" "0" "00000" "NYX_000110" "g.41332855G>C" "0/96 controls" "{PMID:Wang-2012:22735794}" "" "c.149G>C" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000793992" "20" "70" "X" "41332978" "41332978" "subst" "0" "00000" "NYX_000111" "g.41332978T>A" "0/96 controls" "{PMID:Wang-2012:22735794}" "" "c.[272T>A;1429G>C]" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000793993" "20" "70" "X" "41334135" "41334135" "subst" "0" "00000" "NYX_000112" "g.41334135G>C" "0/96 controls" "{PMID:Wang-2012:22735794}" "" "c.[272T>A;1429G>C]" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000794340" "0" "90" "X" "41333743" "41333743" "subst" "0" "00000" "NYX_000113" "g.41333743G>A" "" "{PMID:Wang 2018:30029497}" "" "NM_022567.2:c.1037G>A, NP_072089.1:p.(Trp346Ter), NC_000023.10:g.41333743G>A" "" "Germline" "?" "" "0" "" "" "g.41474490G>A" "" "pathogenic" "ACMG" "0000796282" "0" "90" "X" "41332999" "41332999" "subst" "0" "00000" "NYX_000115" "g.41332999T>A" "" "{PMID:Bijveld 2013:23714322}" "" "c.293T>A" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000796283" "0" "90" "X" "41333045" "41333059" "del" "0" "00000" "NYX_000050" "g.41333045_41333059del" "" "{PMID:Bijveld 2013:23714322}" "" "c.339del15" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000796284" "0" "90" "X" "41333158" "41333158" "subst" "0" "00000" "NYX_000030" "g.41333158C>T" "" "{PMID:Bijveld 2013:23714322}" "" "c.452C>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000796285" "0" "90" "X" "41333191" "41333191" "subst" "0" "00000" "NYX_000116" "g.41333191G>C" "" "{PMID:Bijveld 2013:23714322}" "" "c.485G>C" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000796286" "0" "90" "X" "41333263" "41333264" "dup" "0" "00000" "NYX_000118" "g.41333263_41333264dup" "" "{PMID:Bijveld 2013:23714322}" "" "c.557_558dup" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000796287" "0" "90" "X" "41333344" "41333344" "subst" "0" "00000" "NYX_000096" "g.41333344T>A" "" "{PMID:Bijveld 2013:23714322}" "" "c.638T>A" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000796288" "0" "90" "X" "41333401" "41333401" "subst" "0" "00000" "NYX_000097" "g.41333401T>C" "" "{PMID:Bijveld 2013:23714322}" "" "c.695T>C" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000796289" "0" "90" "X" "41333410" "41333410" "subst" "0" "00000" "NYX_000119" "g.41333410T>C" "" "{PMID:Bijveld 2013:23714322}" "" "c.704T>C" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000796290" "0" "90" "X" "41333476" "41333476" "subst" "0" "00000" "NYX_000120" "g.41333476G>C" "" "{PMID:Bijveld 2013:23714322}" "" "c.770G>C" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000796291" "0" "90" "X" "41333544" "41333544" "subst" "0" "00000" "NYX_000121" "g.41333544C>T" "" "{PMID:Bijveld 2013:23714322}" "" "c.838C>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000796292" "0" "90" "X" "41333641" "41333641" "subst" "0" "00000" "NYX_000025" "g.41333641A>G" "" "{PMID:Bijveld 2013:23714322}" "" "c.935A>G" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000796293" "0" "90" "X" "41332743" "41334153" "del" "0" "00000" "NYX_000114" "g.41332743_41334153del" "" "{PMID:Bijveld 2013:23714322}" "" "c.38-?_c1446+?del" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000796313" "0" "50" "X" "41333208" "41333208" "subst" "0" "00000" "NYX_000117" "g.41333208G>T" "" "{PMID:Bijveld 2013:23714322}" "" "c.502G>T" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000810388" "0" "30" "X" "41333034" "41333034" "subst" "0" "01943" "NYX_000122" "g.41333034C>T" "" "" "" "NYX(NM_022567.2):c.328C>T (p.P110S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000810389" "0" "70" "X" "41333158" "41333158" "subst" "0" "01943" "NYX_000030" "g.41333158C>T" "" "" "" "NYX(NM_022567.2):c.452C>T (p.P151L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000810390" "0" "50" "X" "41333431" "41333431" "subst" "0" "01943" "NYX_000123" "g.41333431T>A" "" "" "" "NYX(NM_022567.2):c.725T>A (p.L242Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000810391" "0" "30" "X" "41333444" "41333444" "subst" "0" "01943" "NYX_000124" "g.41333444G>A" "" "" "" "NYX(NM_022567.2):c.738G>A (p.P246=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000810392" "0" "10" "X" "41333950" "41333950" "subst" "0.000782848" "02330" "NYX_000028" "g.41333950G>A" "" "" "" "NYX(NM_022567.2):c.1244G>A (p.(Ser415Asn)), NYX(NM_022567.3):c.1229G>A (p.S410N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000812770" "0" "90" "X" "41333979" "41333979" "del" "0" "00000" "NYX_000125" "g.41333979del" "" "{PMID:Wang 2019:31106028}" "" "c.1273del, p.(Val425Serfs*135)" "hemizygous" "Germline" "?" "" "0" "" "" "g.41474726del" "" "pathogenic" "" "0000819649" "1" "70" "X" "41333325" "41333333" "dup" "0" "00000" "NYX_000126" "g.41333325_41333333dup" "" "{PMID:Weisschuh 2020:32531858}" "" "NYX, variant 1: c.619_627dup/p.R207_R209dup" "solved, hemizygous" "Unknown" "?" "" "0" "" "" "g.41474072_41474080dup" "" "likely pathogenic" "" "0000819684" "1" "70" "X" "0" "0" "" "0" "00000" "USP9X_000005" "g.?" "" "{PMID:Weisschuh 2020:32531858}" "" "NYX, variant 1 :Deletion exon 2" "solved, hemizygous" "Unknown" "?" "" "0" "" "" "g.?" "" "likely pathogenic" "" "0000821316" "20" "70" "X" "41333642" "41333642" "subst" "0" "00000" "NYX_000060" "g.41333642C>G" "" "{PMID:Turro 2020:32581362}" "" "NYX c.936C>G, p.Asn312Lys" "hemizygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.41474389C>G" "" "likely pathogenic" "" "0000823237" "20" "50" "X" "41333131" "41333131" "subst" "0" "00000" "NYX_000127" "g.41333131T>G" "" "{PMID:Hull 2020:32856788}" "" "NYX nucleotide 1, protein 1:c.425T>G, p.Leu142Arg" "hemizygous, ACMG unclassified - no access to supplementary table 2" "Germline" "?" "" "0" "" "" "g.41473878T>G" "" "VUS" "" "0000823238" "20" "50" "X" "41333209" "41333209" "subst" "0" "00000" "NYX_000128" "g.41333209A>G" "" "{PMID:Hull 2020:32856788}" "" "NYX nucleotide 1, protein 1:c.503A>G, p.Asp168Gly" "hemizygous, ACMG unclassified - no access to supplementary table 2" "Germline" "?" "" "0" "" "" "g.41473956A>G" "" "VUS" "" "0000825808" "20" "70" "X" "41333743" "41333743" "subst" "0" "00000" "NYX_000113" "g.41333743G>A" "" "{PMID:Liu-2020:33090715}" "" "c.G1037A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (maternal)" "" "0000828505" "21" "70" "X" "41333641" "41333641" "subst" "0" "00000" "NYX_000025" "g.41333641A>G" "" "{PMID:Perea-Romero 2021:34448047}" "" "NYX, c.935A>G, p.Asn312Ser, Hemi | heterozygous" "" "Germline" "yes" "" "0" "" "" "g.41474388A>G" "" "likely pathogenic" "ACMG" "0000829793" "20" "70" "X" "41333728" "41333728" "subst" "0" "00000" "NYX_000129" "g.41333728A>C" "" "{PMID:Dockery 2017:29099798}" "" "NYX c.1022A>C, p.Asp341Ala" "only novel variants described in detail in the paper; original cohort contained over 750 patients from over 520 pedigrees, Missense mutations had to show segregation in pedigrees of at least 3 members, two of whom had to be affected." "Germline" "yes" "" "0" "" "" "g.41474475A>C" "" "likely pathogenic" "" "0000841522" "20" "90" "X" "41332791" "41332814" "del" "0" "00000" "NYX_000017" "g.41332791_41332814del" "" "{PMID:Bech Hansen 2000:11062471}" "" "AF254868: 85–108del24ntd" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000841523" "20" "90" "X" "41332791" "41332814" "del" "0" "00000" "NYX_000017" "g.41332791_41332814del" "" "{PMID:Bech Hansen 2000:11062471}" "" "AF254868: 85–108del24ntd" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000841524" "20" "90" "X" "41332791" "41332814" "del" "0" "00000" "NYX_000017" "g.41332791_41332814del" "" "{PMID:Bech Hansen 2000:11062471}" "" "AF254868: 85–108del24ntd" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000841525" "20" "90" "X" "41332791" "41332814" "del" "0" "00000" "NYX_000017" "g.41332791_41332814del" "" "{PMID:Bech Hansen 2000:11062471}" "" "AF254868: 85–108del24ntd" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000841526" "20" "90" "X" "41332791" "41332814" "del" "0" "00000" "NYX_000017" "g.41332791_41332814del" "" "{PMID:Bech Hansen 2000:11062471}" "" "AF254868: 85–108del24ntd" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000841527" "20" "90" "X" "41332791" "41332814" "del" "0" "00000" "NYX_000017" "g.41332791_41332814del" "" "{PMID:Bech Hansen 2000:11062471}" "" "AF254868: 85–108del24ntd" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000841528" "20" "90" "X" "41332791" "41332814" "del" "0" "00000" "NYX_000017" "g.41332791_41332814del" "" "{PMID:Bech Hansen 2000:11062471}" "" "AF254868: 85–108del24ntd" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000841529" "20" "90" "X" "41332987" "41332987" "subst" "0" "00000" "NYX_000087" "g.41332987G>C" "" "{PMID:Bech Hansen 2000:11062471}" "" "AF254868: 452C?T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000841530" "20" "90" "X" "0" "0" "ins" "0" "00000" "NYX_000133" "g.?" "" "{PMID:Bech Hansen 2000:11062471}" "" "AF254868: 464^465ins21nt" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000841531" "20" "90" "X" "41333008" "41333010" "del" "0" "00000" "NYX_000089" "g.41333008_41333010del" "" "{PMID:Bech Hansen 2000:11062471}" "" "AF254868: 551T?C" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000841532" "20" "90" "X" "41333008" "41333008" "subst" "0" "00000" "NYX_000088" "g.41333008T>C" "" "{PMID:Bech Hansen 2000:11062471}" "" "AF254868: 551T?C" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000841533" "20" "90" "X" "0" "0" "delins" "0" "00000" "NYX_000134" "g.?" "" "{PMID:Bech Hansen 2000:11062471}" "" "AF254868: 556–618del50ins3nt" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000841534" "20" "90" "X" "0" "0" "ins" "0" "00000" "NYX_000136" "g.?" "" "{PMID:Bech Hansen 2000:11062471}" "" "AF254868: 619^620ins9nt" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000841535" "20" "90" "X" "0" "0" "ins" "0" "00000" "NYX_000138" "g.?" "" "{PMID:Bech Hansen 2000:11062471}" "" "AF254868: 628^629ins9nt" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000841536" "20" "90" "X" "41333344" "41333344" "subst" "0" "00000" "NYX_000096" "g.41333344T>A" "" "{PMID:Bech Hansen 2000:11062471}" "" "AF254868: 638T?A" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000841537" "20" "90" "X" "41333353" "41333353" "subst" "0" "00000" "NYX_000051" "g.41333353A>G" "" "{PMID:Bech Hansen 2000:11062471}" "" "AF254868: 647A?G" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000841538" "20" "90" "X" "41333401" "41333401" "subst" "0" "00000" "NYX_000097" "g.41333401T>C" "" "{PMID:Bech Hansen 2000:11062471}" "" "AF254868: 695T?C" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000841539" "20" "90" "X" "41332798" "41332798" "subst" "0" "00000" "NYX_000131" "g.41332798C>G" "" "{PMID:Bech Hansen 2000:11062471}" "" "AF254868: 92C?G" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000841540" "20" "90" "X" "41333560" "41333560" "subst" "0" "00000" "NYX_000100" "g.41333560T>C" "" "{PMID:Bech Hansen 2000:11062471}" "" "AF254868: 854T?C" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000841541" "20" "90" "X" "41333599" "41333599" "subst" "0" "00000" "NYX_000102" "g.41333599T>C" "" "{PMID:Bech Hansen 2000:11062471}" "" "AF254868: 893T?C" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000841542" "20" "90" "X" "41333755" "41333755" "subst" "1.17883E-5" "00000" "NYX_000104" "g.41333755G>A" "" "{PMID:Bech Hansen 2000:11062471}" "" "AF254868: 1049G?A" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000841543" "20" "90" "X" "41333755" "41333755" "subst" "1.17883E-5" "00000" "NYX_000104" "g.41333755G>A" "" "{PMID:Bech Hansen 2000:11062471}" "" "AF254868: 1049G?A" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000841544" "20" "90" "X" "41307175" "41307175" "del" "0" "00000" "NYX_000130" "g.41307175del" "" "{PMID:Bech Hansen 2000:11062471}" "" "AF254868: del exons 1 and 2" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000841545" "20" "90" "X" "41307175" "41307175" "del" "0" "00000" "NYX_000130" "g.41307175del" "" "{PMID:Bech Hansen 2000:11062471}" "" "AF254868: del exon 3 and 3´ UTR" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000841546" "0" "90" "X" "41333828" "41334163" "del" "0" "00000" "NYX_000053" "g.41333828_41334163del" "" "{PMID:Pusch 2000:11062472}" "" "AJ278865: 1122–1457del326bp" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000841547" "0" "90" "X" "41332798" "41332798" "subst" "0" "00000" "NYX_000083" "g.41332798G>C" "" "{PMID:Pusch 2000:11062472}" "" "AJ278865: 91G?C" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000841548" "0" "90" "X" "41332798" "41332798" "subst" "0" "00000" "NYX_000083" "g.41332798G>C" "" "{PMID:Pusch 2000:11062472}" "" "AJ278865: 91G?C" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000841549" "0" "90" "X" "41332798" "41332798" "subst" "0" "00000" "NYX_000083" "g.41332798G>C" "" "{PMID:Pusch 2000:11062472}" "" "AJ278865: 91G?C" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000841550" "0" "90" "X" "41332811" "41332811" "subst" "0" "00000" "NYX_000084" "g.41332811C>A" "" "{PMID:Pusch 2000:11062472}" "" "AJ278865: 105C?A" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000841551" "0" "90" "X" "41332811" "41332811" "subst" "0" "00000" "NYX_000084" "g.41332811C>A" "" "{PMID:Pusch 2000:11062472}" "" "AJ278865: 105C?A" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000841552" "0" "90" "X" "41333008" "41333010" "del" "0" "00000" "NYX_000089" "g.41333008_41333010del" "" "{PMID:Pusch 2000:11062472}" "" "AJ278865: 301–303delTCA" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000841553" "0" "90" "X" "41332987" "41332987" "subst" "0" "00000" "NYX_000087" "g.41332987G>C" "" "{PMID:Pusch 2000:11062472}" "" "AJ278865: 340–354del15bp" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000841554" "0" "90" "X" "41332987" "41332987" "subst" "0" "00000" "NYX_000087" "g.41332987G>C" "" "{PMID:Pusch 2000:11062472}" "" "AJ278865: 427G?C" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000841555" "0" "90" "X" "41332987" "41332987" "subst" "0" "00000" "NYX_000087" "g.41332987G>C" "" "{PMID:Pusch 2000:11062472}" "" "AJ278865: 524C?G" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000841556" "0" "90" "X" "41332987" "41332987" "subst" "0" "00000" "NYX_000087" "g.41332987G>C" "" "{PMID:Pusch 2000:11062472}" "" "AJ278865: 524C?G" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000841557" "0" "90" "X" "41332987" "41332987" "subst" "0" "00000" "NYX_000087" "g.41332987G>C" "" "{PMID:Pusch 2000:11062472}" "" "AJ278865: 524C?G" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000841558" "0" "90" "X" "41335715" "41335717" "del" "0" "00000" "NYX_000140" "g.41335715_41335717del" "" "{PMID:Pusch 2000:11062472}" "" "AJ278865: 524C?G" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000841559" "0" "90" "X" "41333008" "41333008" "subst" "0" "00000" "NYX_000088" "g.41333008T>C" "" "{PMID:Pusch 2000:11062472}" "" "AJ278865: 559-560GC?AA" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000841560" "0" "90" "X" "0" "0" "ins" "0" "00000" "NYX_000137" "g.?" "" "{PMID:Pusch 2000:11062472}" "" "AJ278865: 621ins9bp" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000841561" "0" "90" "X" "41333438" "41333449" "del" "0" "00000" "NYX_000098" "g.41333438_41333449del" "" "{PMID:Pusch 2000:11062472}" "" "AJ278865: 727-738del12bp" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000841562" "0" "90" "X" "41333626" "41333626" "subst" "0" "00000" "NYX_000011" "g.41333626T>C" "" "{PMID:Pusch 2000:11062472}" "" "AJ278865: 920T?C" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000841563" "0" "90" "X" "41333641" "41333641" "subst" "0" "00000" "NYX_000025" "g.41333641A>G" "" "{PMID:Pusch 2000:11062472}" "" "AJ278865: 935A?G" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000841564" "0" "90" "X" "41333641" "41333641" "subst" "0" "00000" "NYX_000025" "g.41333641A>G" "" "{PMID:Pusch 2000:11062472}" "" "AJ278865: 935A?G" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000841565" "0" "90" "X" "41333746" "41333746" "subst" "0" "00000" "NYX_000103" "g.41333746T>C" "" "{PMID:Pusch 2000:11062472}" "" "AJ278865: 1040T?C" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000841566" "0" "90" "X" "41333746" "41333746" "subst" "0" "00000" "NYX_000103" "g.41333746T>C" "" "{PMID:Pusch 2000:11062472}" "" "AJ278865: 1040T?C" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000841567" "0" "90" "X" "41333815" "41333815" "subst" "0" "00000" "NYX_000105" "g.41333815G>T" "" "{PMID:Pusch 2000:11062472}" "" "AJ278865: 1109G?T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000841568" "20" "90" "X" "41332987" "41332987" "subst" "0" "00000" "NYX_000087" "g.41332987G>C" "0/96 controls" "{PMID:Xiao 2006:16670814}" "" "c.281G>C" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000841569" "0" "90" "X" "41332987" "41332987" "subst" "0" "00000" "NYX_000087" "g.41332987G>C" "0/96 controls" "{PMID:Xiao 2006:16670814}" "" "c.281G>C" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000841570" "0" "90" "X" "41332987" "41332987" "subst" "0" "00000" "NYX_000087" "g.41332987G>C" "0/96 controls" "{PMID:Xiao 2006:16670814}" "" "c.281G>C" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000841571" "0" "90" "X" "41332987" "41332987" "subst" "0" "00000" "NYX_000087" "g.41332987G>C" "0/96 controls" "{PMID:Xiao 2006:16670814}" "" "c.281G>C" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000841572" "0" "90" "X" "41332987" "41332987" "subst" "0" "00000" "NYX_000087" "g.41332987G>C" "0/96 controls" "{PMID:Xiao 2006:16670814}" "" "c.281G>C" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000841573" "0" "90" "X" "41332987" "41332987" "subst" "0" "00000" "NYX_000087" "g.41332987G>C" "0/96 controls" "{PMID:Xiao 2006:16670814}" "" "c.281G>C" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000841574" "20" "90" "X" "41332987" "41332987" "subst" "0" "00000" "NYX_000087" "g.41332987G>C" "0/96 controls" "{PMID:Xiao 2006:16670814}" "" "c.281G>C" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000841575" "0" "90" "X" "41332987" "41332987" "subst" "0" "00000" "NYX_000087" "g.41332987G>C" "0/96 controls" "{PMID:Xiao 2006:16670814}" "" "c.281G>C" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000841576" "20" "90" "X" "41332987" "41332987" "subst" "0" "00000" "NYX_000087" "g.41332987G>C" "0/96 controls" "{PMID:Xiao 2006:16670814}" "" "c.281G>C" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000841577" "20" "90" "X" "41332987" "41332987" "subst" "0" "00000" "NYX_000087" "g.41332987G>C" "0/96 controls" "{PMID:Xiao 2006:16670814}" "" "c.281G>C" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000841578" "20" "90" "X" "41332987" "41332987" "subst" "0" "00000" "NYX_000087" "g.41332987G>C" "0/96 controls" "{PMID:Xiao 2006:16670814}" "" "c.281G>C" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000841579" "20" "90" "X" "41333008" "41333008" "subst" "0" "00000" "NYX_000088" "g.41333008T>C" "0/96 controls" "{PMID:Xiao 2006:16670814}" "" "c.302T>C" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000841580" "20" "90" "X" "41333008" "41333008" "subst" "0" "00000" "NYX_000088" "g.41333008T>C" "0/96 controls" "{PMID:Xiao 2006:16670814}" "" "c.302T>C" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000841581" "20" "90" "X" "41332850" "41332850" "subst" "0" "00000" "NYX_000132" "g.41332850C>G" "" "{PMID:Zhang 2007:17392683}" "" "c.144C>G" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000841582" "20" "90" "X" "41333278" "41333279" "delins" "0" "00000" "NYX_000135" "g.41333278_41333279delinsAA" "" "{PMID:Zhang 2007:17392683}" "" "c.572-573GC>AA" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000841583" "20" "70" "X" "41332987" "41332987" "subst" "0" "00000" "NYX_000087" "g.41332987G>C" "" "{PMID:dhan 2011:00000_Pr}" "" "c.425T>G" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000841584" "0" "70" "X" "41332987" "41332987" "subst" "0" "00000" "NYX_000087" "g.41332987G>C" "" "{PMID:dhan 2011:00000_Pr}" "" "c.425T>G" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000841585" "0" "70" "X" "41332987" "41332987" "subst" "0" "00000" "NYX_000087" "g.41332987G>C" "" "{PMID:dhan 2011:00000_Pr}" "" "c.425T>G" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000841586" "20" "70" "X" "41332987" "41332987" "subst" "0" "00000" "NYX_000087" "g.41332987G>C" "" "{PMID:dhan 2011:00000_Pr}" "" "c.425T>G" "" "Germline" "yes" "rs3013121" "0" "" "" "" "" "likely pathogenic" "" "0000841587" "20" "90" "X" "41333562" "41333562" "del" "0" "00000" "NYX_000101" "g.41333562del" "" "{PMID:Leroy 2009:18617546}" "" "c.855delG" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000841588" "20" "90" "X" "41333562" "41333562" "del" "0" "00000" "NYX_000101" "g.41333562del" "" "{PMID:Leroy 2009:18617546}" "" "c.855delG" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000841589" "0" "90" "X" "41333562" "41333562" "del" "0" "00000" "NYX_000101" "g.41333562del" "" "{PMID:Leroy 2009:18617546}" "" "c.855delG" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000841590" "0" "90" "X" "41333562" "41333562" "del" "0" "00000" "NYX_000101" "g.41333562del" "" "{PMID:Leroy 2009:18617546}" "" "c.855delG" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000841591" "20" "90" "X" "41333562" "41333562" "del" "0" "00000" "NYX_000101" "g.41333562del" "" "{PMID:Leroy 2009:18617546}" "" "c.855delG" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000841592" "20" "90" "X" "41333562" "41333562" "del" "0" "00000" "NYX_000101" "g.41333562del" "" "{PMID:Leroy 2009:18617546}" "" "c.855delG" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000841593" "0" "90" "X" "41333562" "41333562" "del" "0" "00000" "NYX_000101" "g.41333562del" "" "{PMID:Leroy 2009:18617546}" "" "c.855delG" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000841594" "20" "90" "X" "41333562" "41333562" "del" "0" "00000" "NYX_000101" "g.41333562del" "" "{PMID:Leroy 2009:18617546}" "" "c.855delG" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000841595" "20" "90" "X" "41333562" "41333562" "del" "0" "00000" "NYX_000101" "g.41333562del" "" "{PMID:Leroy 2009:18617546}" "" "c.855delG" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000841596" "20" "90" "X" "41333562" "41333562" "del" "0" "00000" "NYX_000101" "g.41333562del" "" "{PMID:Leroy 2009:18617546}" "" "c.855delG" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000841597" "20" "90" "X" "41333525" "41333525" "subst" "0" "00000" "NYX_000139" "g.41333525G>A" "" "{PMID:McAnany 2013:23289809}" "" "819G>A" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000842756" "20" "70" "X" "41333911" "41333912" "ins" "0" "00000" "NYX_000148" "g.41333911_41333912insT" "" "{PMID:427_Kurata-2017:NYX_2851}" "" "c.1205_1206insT" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000842757" "21" "90" "X" "41332989" "41332989" "del" "0" "00000" "NYX_000143" "g.41332989del" "" "{PMID:698_Ivanova-2019:NYX_3182}" "" "c.283delC" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000842758" "21" "90" "X" "41332989" "41332989" "del" "0" "00000" "NYX_000143" "g.41332989del" "" "{PMID:698_Ivanova-2019:NYX_3182}" "" "c.283delC" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000842759" "0" "90" "X" "41332989" "41332989" "del" "0" "00000" "NYX_000143" "g.41332989del" "" "{PMID:698_Ivanova-2019:NYX_3182}" "" "c.283delC" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000842760" "21" "90" "X" "41332989" "41332989" "del" "0" "00000" "NYX_000143" "g.41332989del" "" "{PMID:698_Ivanova-2019:NYX_3182}" "" "c.283delC" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000842761" "21" "90" "X" "41333332" "41333332" "subst" "0" "00000" "NYX_000147" "g.41333332G>C" "0/96 normal controls" "{PMID:48_Zhou-2015:NYX_2580}" "" "c.626G>C" "" "Unknown" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000842762" "21" "90" "X" "41332827" "41332827" "del" "0" "00000" "NYX_000141" "g.41332827del" "0/96 normal controls" "{PMID:48_Zhou-2015:NYX_2580}" "" "c.121delG" "" "Unknown" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000842763" "21" "90" "X" "41333041" "41333041" "subst" "0" "00000" "NYX_000144" "g.41333041T>C" "0/96 normal controls" "{PMID:48_Zhou-2015:NYX_2580}" "" "c.335T>C" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000842764" "21" "50" "X" "41333235" "41333236" "delins" "0" "00000" "NYX_000146" "g.41333235_41333236delinsAT" "0/96 normal controls" "{PMID:48_Zhou-2015:NYX_2580}" "" "529_530delGCinsAT" "was found in an isolated highly myopic patient and an affected brother" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000842765" "21" "50" "X" "41333235" "41333236" "delins" "0" "00000" "NYX_000146" "g.41333235_41333236delinsAT" "0/96 normal controls" "{PMID:48_Zhou-2015:NYX_2580}" "" "c.529_530GC>AT" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000842766" "0" "50" "X" "41333235" "41333236" "delins" "0" "00000" "NYX_000146" "g.41333235_41333236delinsAT" "0/96 normal controls" "{PMID:48_Zhou-2015:NYX_2580}" "" "c.529_530GC>AT" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000842767" "21" "50" "X" "41333235" "41333236" "delins" "0" "00000" "NYX_000146" "g.41333235_41333236delinsAT" "0/96 normal controls" "{PMID:48_Zhou-2015:NYX_2580}" "" "c.529_530GC>AT" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000842768" "21" "50" "X" "41333235" "41333236" "delins" "0" "00000" "NYX_000146" "g.41333235_41333236delinsAT" "0/96 normal controls" "{PMID:48_Zhou-2015:NYX_2580}" "" "c.529_530GC>AT" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000842769" "21" "90" "X" "41333079" "41333085" "del" "0" "00000" "NYX_000145" "g.41333079_41333085del" "0/100 normal controls" "{PMID:941_Dai-2015:NYX_2623}" "" "c.371_377del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000842770" "0" "90" "X" "41333079" "41333085" "del" "0" "00000" "NYX_000145" "g.41333079_41333085del" "0/100 normal controls" "{PMID:941_Dai-2015:NYX_2623}" "" "c.371_377del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000842771" "0" "90" "X" "41333079" "41333085" "del" "0" "00000" "NYX_000145" "g.41333079_41333085del" "0/100 normal controls" "{PMID:941_Dai-2015:NYX_2623}" "" "c.371_377del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000842772" "21" "90" "X" "41333079" "41333085" "del" "0" "00000" "NYX_000145" "g.41333079_41333085del" "0/100 normal controls" "{PMID:941_Dai-2015:NYX_2623}" "" "c.371_377del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000842773" "0" "90" "X" "41333079" "41333085" "del" "0" "00000" "NYX_000145" "g.41333079_41333085del" "0/100 normal controls" "{PMID:941_Dai-2015:NYX_2623}" "" "c.371_377del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000842774" "21" "90" "X" "41333079" "41333085" "del" "0" "00000" "NYX_000145" "g.41333079_41333085del" "0/100 normal controls" "{PMID:941_Dai-2015:NYX_2623}" "" "c.371_377del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000842775" "21" "90" "X" "41333079" "41333085" "del" "0" "00000" "NYX_000145" "g.41333079_41333085del" "0/100 normal controls" "{PMID:941_Dai-2015:NYX_2623}" "" "c.371_377del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000842776" "21" "90" "X" "41333079" "41333085" "del" "0" "00000" "NYX_000145" "g.41333079_41333085del" "0/100 normal controls" "{PMID:941_Dai-2015:NYX_2623}" "" "c.371_377del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000842777" "21" "90" "X" "41333079" "41333085" "del" "0" "00000" "NYX_000145" "g.41333079_41333085del" "0/100 normal controls" "{PMID:941_Dai-2015:NYX_2623}" "" "c.371_377del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000842778" "21" "90" "X" "41332920" "41332920" "subst" "0" "00000" "NYX_000142" "g.41332920A>C" "0/100 normal controls" "{PMID:941_Dai-2015:NYX_2623}" "" "c.214A>C" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000842779" "0" "90" "X" "41332920" "41332920" "subst" "0" "00000" "NYX_000142" "g.41332920A>C" "0/100 normal controls" "{PMID:941_Dai-2015:NYX_2623}" "" "c.214A>C" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000842780" "21" "90" "X" "41332920" "41332920" "subst" "0" "00000" "NYX_000142" "g.41332920A>C" "0/100 normal controls" "{PMID:941_Dai-2015:NYX_2623}" "" "c.214A>C" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000842781" "20" "90" "X" "41332920" "41332920" "subst" "0" "00000" "NYX_000142" "g.41332920A>C" "0/100 normal controls" "{PMID:941_Dai-2015:NYX_2623}" "" "c.214A>C" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000842782" "20" "90" "X" "41332920" "41332920" "subst" "0" "00000" "NYX_000142" "g.41332920A>C" "0/100 normal controls" "{PMID:941_Dai-2015:NYX_2623}" "" "c.214A>C" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000842783" "20" "90" "X" "41332920" "41332920" "subst" "0" "00000" "NYX_000142" "g.41332920A>C" "0/100 normal controls" "{PMID:941_Dai-2015:NYX_2623}" "" "c.214A>C" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000842784" "20" "90" "X" "41332920" "41332920" "subst" "0" "00000" "NYX_000142" "g.41332920A>C" "0/100 normal controls" "{PMID:941_Dai-2015:NYX_2623}" "" "c.214A>C" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000856608" "0" "30" "X" "41333288" "41333288" "subst" "0.00114388" "01943" "NYX_000149" "g.41333288C>A" "" "" "" "NYX(NM_022567.2):c.582C>A (p.I194=), NYX(NM_022567.3):c.567C>A (p.I189=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856609" "0" "50" "X" "41333358" "41333358" "subst" "0" "01943" "NYX_000150" "g.41333358G>T" "" "" "" "NYX(NM_022567.2):c.652G>T (p.V218F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000869989" "20" "70" "X" "41332743" "41332744" "delins" "0" "01164" "NYX_000151" "g.41332743_41332744delinsTT" "" "" "" "" "ACMG: PVS1, PM2_SUP" "Germline" "" "" "0" "" "" "g.41473490_41473491delinsTT" "" "likely pathogenic (recessive)" "ACMG" "0000874123" "3" "70" "X" "41333265" "41333265" "subst" "0" "04364" "NYX_000153" "g.41333265G>C" "" "" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.41474012G>C" "" "likely pathogenic (recessive)" "" "0000874150" "0" "70" "X" "41333631" "41333631" "subst" "0" "04364" "NYX_000152" "g.41333631C>G" "" "" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "" "" "VUS" "ACMG" "0000874157" "3" "70" "X" "41333636" "41333636" "subst" "0" "04364" "NYX_000152" "g.41333636C>A" "" "" "" "" "" "Germline/De novo (untested)" "yes" "" "" "" "" "" "" "VUS" "ACMG" "0000874158" "3" "70" "X" "41333636" "41333636" "subst" "0" "04364" "NYX_000152" "g.41333636C>A" "" "" "" "41333631C>G" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "" "" "VUS" "ACMG" "0000874159" "3" "70" "X" "41333631" "41333631" "subst" "0" "04364" "NYX_000152" "g.41333631C>G" "" "" "" "" "" "Germline/De novo (untested)" "yes" "" "" "" "" "" "" "VUS" "ACMG" "0000896220" "0" "50" "X" "41333028" "41333028" "subst" "0" "02325" "NYX_000154" "g.41333028G>A" "" "" "" "NYX(NM_022567.3):c.307G>A (p.G103S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000896221" "0" "30" "X" "41333030" "41333030" "subst" "2.80544E-5" "02330" "NYX_000155" "g.41333030C>T" "" "" "" "NYX(NM_022567.3):c.309C>T (p.G103=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000896222" "0" "90" "X" "41333140" "41333146" "del" "0" "02330" "NYX_000156" "g.41333140_41333146del" "" "" "" "NYX(NM_022567.3):c.419_425delGCCGCCT (p.C140Sfs*38)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000896223" "0" "30" "X" "41333342" "41333342" "subst" "0" "01804" "NYX_000157" "g.41333342C>A" "" "" "" "NYX(NM_022567.2):c.636C>A (p.(Ser212Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000896224" "0" "30" "X" "41333651" "41333651" "subst" "0" "02330" "NYX_000158" "g.41333651C>G" "" "" "" "NYX(NM_022567.3):c.930C>G (p.T310=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000896225" "0" "50" "X" "41333808" "41333808" "subst" "0" "02327" "NYX_000159" "g.41333808G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000896226" "0" "70" "X" "41334094" "41334100" "del" "0" "02330" "NYX_000047" "g.41334094_41334100del" "" "" "" "NYX(NM_022567.2):c.1388_1394delCCTCTTG (p.A463Vfs*95), NYX(NM_022567.3):c.1373_1379delCCTCTTG (p.A458Vfs*95)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000905893" "0" "90" "X" "41333562" "41333562" "del" "0" "00000" "NYX_000101" "g.41333562del" "" "{PMID:Zhu 2022:35456422}" "" "NYX c.856del, p.(Asp286Thrfs*62)" "hemizygous, probably causal" "Germline/De novo (untested)" "?" "" "0" "" "" "g.41474309del" "" "pathogenic" "ACMG" "0000905894" "0" "90" "X" "41333562" "41333562" "del" "0" "00000" "NYX_000101" "g.41333562del" "" "{PMID:Zhu 2022:35456422}" "" "NYX c.856del, p.(Asp286Thrfs*62)" "hemizygous, probably causal" "Germline/De novo (untested)" "?" "" "0" "" "" "g.41474309del" "" "pathogenic" "ACMG" "0000905896" "0" "90" "X" "41333308" "41333308" "subst" "0" "00000" "NYX_000161" "g.41333308C>A" "" "{PMID:Zhu 2022:35456422}" "" "NYX c.602C>A, p.(Ser201*)" "hemizygous, probably causal" "Germline/De novo (untested)" "?" "" "0" "" "" "g.41474055C>A" "" "pathogenic" "ACMG" "0000905903" "0" "50" "X" "41333166" "41333166" "subst" "0" "00000" "NYX_000160" "g.41333166C>T" "" "{PMID:Zhu 2022:35456422}" "" "NYX c.460C>T, p.(Leu154Phe)" "hemizygous, probably causal" "Germline/De novo (untested)" "?" "" "0" "" "" "g.41473913C>T" "" "VUS" "ACMG" "0000915862" "11" "50" "X" "41332840" "41332840" "subst" "0" "04436" "NYX_000162" "g.41332840C>T" "" "{PMID:Panneman 2023:36819107}" "" "c.134C>T" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000916378" "11" "50" "X" "41332798" "41332798" "subst" "0" "04436" "NYX_000035" "g.41332798G>A" "" "{PMID:Panneman 2023:36819107}" "" "c.92G>A" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000927367" "0" "30" "X" "41333288" "41333288" "subst" "0.00114388" "02330" "NYX_000149" "g.41333288C>A" "" "" "" "NYX(NM_022567.2):c.582C>A (p.I194=), NYX(NM_022567.3):c.567C>A (p.I189=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000927368" "0" "50" "X" "41333864" "41333864" "subst" "0" "02330" "NYX_000163" "g.41333864T>G" "" "" "" "NYX(NM_022567.3):c.1143T>G (p.C381W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000953885" "21" "90" "X" "41332888" "41332889" "ins" "0" "00006" "NYX_000164" "g.41332888_41332889insT" "" "{PMID:Kim 2021:34064005}, {PMID:Moon 2021:35052368}" "" "" "" "Germline" "" "" "0" "" "" "g.41473635_41473636insT" "" "pathogenic (recessive)" "" "0000953886" "21" "90" "X" "41332743" "41332744" "delins" "0" "00006" "NYX_000151" "g.41332743_41332744delinsTT" "" "{PMID:Kim 2021:34064005}" "" "" "" "Germline" "" "" "0" "" "" "g.41473490_41473491delinsTT" "" "pathogenic (recessive)" "" "0000954053" "21" "90" "X" "41332743" "41332744" "delins" "0" "00006" "NYX_000151" "g.41332743_41332744delinsTT" "" "{PMID:Moon 2021:35052368}" "" "" "" "Germline" "" "" "0" "" "" "g.41473490_41473491delinsTT" "" "pathogenic" "" "0000958193" "20" "70" "X" "41333353" "41333353" "subst" "0" "00006" "NYX_000051" "g.41333353A>G" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PP5_STRONG" "Germline" "" "" "0" "" "" "g.41474100A>G" "" "likely pathogenic (recessive)" "ACMG" "0000958194" "20" "90" "X" "41332791" "41332814" "del" "0" "00006" "NYX_000017" "g.41332791_41332814del" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PM4, PP5_STRONG" "Germline" "" "" "0" "" "" "g.41473538_41473561del" "" "pathogenic (recessive)" "ACMG" "0000958893" "20" "50" "X" "41333452" "41333452" "subst" "0" "00006" "NYX_000166" "g.41333452C>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2" "Germline" "" "" "0" "" "" "g.41474199C>A" "" "VUS" "ACMG" "0000959063" "0" "50" "X" "41333016" "41333016" "subst" "0" "00006" "NYX_000165" "g.41333016G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2; no variant 2nd chromosome" "Germline/De novo (untested)" "" "" "0" "" "" "g.41473763G>A" "" "VUS" "ACMG" "0000971081" "0" "50" "X" "41333257" "41333257" "subst" "0" "02327" "NYX_000167" "g.41333257T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001006754" "0" "50" "X" "41334007" "41334007" "subst" "0" "01804" "NYX_000168" "g.41334007C>T" "" "" "" "NYX(NM_022567.2):c.1301C>T (p.(Thr434Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001016031" "0" "30" "X" "41333517" "41333517" "subst" "0.00011719" "02330" "NYX_000009" "g.41333517C>T" "" "" "" "NYX(NM_022567.2):c.811C>T (p.R271C, p.(Arg271Cys)), NYX(NM_022567.3):c.796C>T (p.R266C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001044331" "0" "30" "X" "41307098" "41307098" "subst" "0" "01804" "NYX_000169" "g.41307098T>G" "" "" "" "NYX(NM_001378477.1):c.-41-4T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely 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 NYX ## Count = 311 "{{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}}" "0000006636" "00000375" "30" "1955" "0" "1955" "0" "c.*509G>C" "r.(=)" "p.(=)" "2" "0000008692" "00000375" "30" "1955" "0" "1955" "0" "c.*509G>C" "r.(=)" "p.(=)" "2" "0000010897" "00000375" "30" "2168" "0" "2168" "0" "c.*722del" "r.(=)" "p.(=)" "2" "0000060123" "00000375" "10" "1394" "0" "1394" "0" "c.1394G>T" "r.(?)" "p.(Cys465Phe)" "2" "0000293335" "00000375" "10" "1035" "0" "1035" "0" "c.1035G>A" "r.(?)" "p.(Glu345=)" "" "0000293336" "00000375" "50" "1105" "0" "1105" "0" "c.1105G>T" "r.(?)" "p.(Ala369Ser)" "" "0000293337" "00000375" "10" "1180" "0" "1180" "0" "c.1180C>T" "r.(?)" "p.(Leu394Phe)" "" "0000293338" "00000375" "10" "1217" "0" "1217" "0" "c.1217C>G" "r.(?)" "p.(Ala406Gly)" "" "0000293339" "00000375" "10" "1251" "0" "1251" "0" "c.1251C>T" "r.(?)" "p.(Leu417=)" "" "0000304685" "00000375" "10" "1180" "0" "1180" "0" "c.1180C>T" "r.(?)" "p.(Leu394Phe)" "" "0000304686" "00000375" "10" "222" "0" "222" "0" "c.222G>A" "r.(?)" "p.(Leu74=)" "" "0000304687" "00000375" "50" "454" "0" "454" "0" "c.454G>A" "r.(?)" "p.(Glu152Lys)" "" "0000304688" "00000375" "30" "735" "0" "735" "0" "c.735C>G" "r.(?)" "p.(Leu245=)" "" "0000304689" "00000375" "30" "811" "0" "811" "0" "c.811C>T" "r.(?)" "p.(Arg271Cys)" "" "0000304690" "00000375" "10" "905" "0" "905" "0" "c.905C>T" "r.(?)" "p.(Ser302Leu)" "" "0000304691" "00000375" "70" "920" "0" "920" "0" "c.920T>C" "r.(?)" "p.(Leu307Pro)" "" "0000333813" "00000375" "50" "905" "0" "905" "0" "c.905C>T" "r.(?)" "p.(Ser302Leu)" "" "0000342661" "00000375" "50" "1003" "0" "1003" "0" "c.1003C>T" "r.(?)" "p.(Arg335Cys)" "" "0000344079" "00000375" "50" "1163" "0" "1163" "0" "c.1163A>C" "r.(?)" "p.(Asp388Ala)" "" "0000348241" "00000375" "50" "524" "0" "524" "0" "c.524C>T" "r.(?)" "p.(Pro175Leu)" "" "0000575972" "00000375" "70" "263" "0" "263" "0" "c.263T>G" "r.(?)" "p.(Leu88Trp)" "" "0000575973" "00000375" "30" "525" "0" "525" "0" "c.525G>C" "r.(?)" "p.(Pro175=)" "" "0000575974" "00000375" "30" "616" "0" "616" "0" "c.616C>T" "r.(?)" "p.(Arg206Cys)" "" "0000575975" "00000375" "10" "747" "0" "747" "0" "c.747C>T" "r.(?)" "p.(Ala249=)" "" "0000575976" "00000375" "30" "811" "0" "811" "0" "c.811C>T" "r.(?)" "p.(Arg271Cys)" "" "0000575977" "00000375" "90" "935" "0" "935" "0" "c.935A>G" "r.(?)" "p.(Asn312Ser)" "" "0000575978" "00000375" "30" "1035" "0" "1035" "0" "c.1035G>A" "r.(?)" "p.(Glu345=)" "" "0000575979" "00000375" "50" "1151" "0" "1151" "0" "c.1151G>A" "r.(?)" "p.(Gly384Asp)" "" "0000575980" "00000375" "10" "1198" "0" "1198" "0" "c.1198G>A" "r.(?)" "p.(Gly400Ser)" "" "0000575982" "00000375" "30" "1244" "0" "1244" "0" "c.1244G>A" "r.(?)" "p.(Ser415Asn)" "" "0000619559" "00000375" "50" "452" "0" "452" "0" "c.452C>T" "r.(?)" "p.(Pro151Leu)" "" "0000619560" "00000375" "30" "773" "0" "773" "0" "c.773C>T" "r.(?)" "p.(Thr258Met)" "" "0000619561" "00000375" "50" "869" "0" "869" "0" "c.869T>A" "r.(?)" "p.(Ile290Asn)" "" "0000619562" "00000375" "70" "935" "0" "935" "0" "c.935A>G" "r.(?)" "p.(Asn312Ser)" "" "0000619563" "00000375" "50" "955" "0" "955" "0" "c.955T>A" "r.(?)" "p.(Trp319Arg)" "" "0000619564" "00000375" "10" "1198" "0" "1198" "0" "c.1198G>A" "r.(?)" "p.(Gly400Ser)" "" "0000619565" "00000375" "30" "1387" "0" "1387" "0" "c.1387G>A" "r.(?)" "p.(Ala463Thr)" "" "0000624616" "00000375" "50" "64" "0" "64" "0" "c.64T>C" "r.(?)" "p.(Trp22Arg)" "" "0000659301" "00000375" "70" "92" "0" "92" "0" "c.92G>A" "r.(?)" "p.(Cys31Tyr)" "" "0000659302" "00000375" "90" "1168" "0" "1168" "0" "c.1168G>T" "r.(?)" "p.(Glu390Ter)" "" "0000659303" "00000375" "50" "1316" "0" "1316" "0" "c.1316A>G" "r.(?)" "p.(Asn439Ser)" "" "0000682432" "00000375" "50" "1021" "0" "1021" "0" "c.1021G>A" "r.(?)" "p.(Asp341Asn)" "" "0000682433" "00000375" "30" "1355" "0" "1355" "0" "c.1355G>A" "r.(?)" "p.(Gly452Glu)" "" "0000684635" "00000375" "70" "1086" "0" "1086" "0" "c.1086del" "r.(?)" "p.(Cys362Trpfs*15)" "" "0000685317" "00000375" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000685318" "00000375" "70" "350" "0" "350" "0" "c.350T>A" "r.(?)" "p.(Leu117Gln)" "" "0000685319" "00000375" "70" "496" "0" "496" "0" "c.496G>C" "r.(?)" "p.(Ala166Pro)" "" "0000685320" "00000375" "90" "797" "0" "797" "0" "c.797T>C" "r.(?)" "p.(Leu266Pro)" "" "0000685321" "00000375" "70" "1018" "0" "1018" "0" "c.1018T>G" "r.(?)" "p.(Cys340Gly)" "" "0000685322" "00000375" "90" "1069" "0" "1070" "0" "c.1069_1070del" "r.(?)" "p.(Val357Hisfs*135)" "" "0000685323" "00000375" "90" "1261" "0" "1262" "0" "c.1261_1262dup" "r.(?)" "p.(Ala422Trpfs*139)" "" "0000693589" "00000375" "90" "1388" "0" "1394" "0" "c.1388_1394del" "r.(?)" "p.(Ala463ValfsTer95)" "" "0000703794" "00000375" "50" "37" "1" "37" "1" "c.37+1G>C" "r.spl?" "p.?" "1i" "0000703795" "00000375" "50" "51" "0" "67" "0" "c.51_67del" "r.(?)" "p.(Leu18Argfs*91)" "2" "0000703796" "00000375" "50" "339" "0" "353" "0" "c.339_353del" "r.(?)" "p.(Glu114_Ala118del)" "2" "0000703797" "00000375" "50" "647" "0" "647" "0" "c.647A>G" "r.(?)" "p.(Asn216Ser)" "2" "0000703798" "00000375" "50" "895" "0" "895" "0" "c.895C>T" "r.(?)" "p.(Gln299*)" "2" "0000703799" "00000375" "50" "1122" "0" "1457" "0" "c.1122_1457del" "r.(?)" "p.(Ser374_Asp481delinsArgGlyGluSerLeuLeuAsnTrpAla)" "2" "0000703800" "00000375" "50" "1308" "0" "1308" "0" "c.1308del" "r.(?)" "p.(Leu437Trpfs*123)" "2" "0000711682" "00000375" "70" "169" "0" "169" "0" "c.169C>A" "r.(?)" "p.(Pro57Thr)" "2" "0000711683" "00000375" "70" "191" "0" "191" "0" "c.191C>A" "r.(?)" "p.(Ala64Glu)" "2" "0000713254" "00000375" "90" "990" "0" "995" "0" "c.990_995del" "r.(?)" "p.(Leu333_Phe334del)" "" "0000713469" "00000375" "90" "936" "0" "936" "0" "c.936C>G" "r.(?)" "p.(Asn312Lys)" "" "0000714047" "00000375" "70" "212" "0" "212" "0" "c.212G>C" "r.(?)" "p.(Arg71Pro)" "" "0000714048" "00000375" "70" "85" "0" "108" "0" "c.85_108del" "r.(?)" "p.(Arg29_Ala36del)" "" "0000714049" "00000375" "70" "216" "0" "216" "0" "c.216C>G" "r.(?)" "p.(Asn72Lys)" "" "0000714050" "00000375" "70" "106" "0" "111" "0" "c.106_111del" "r.(?)" "p.(Ala36_Cys37del)" "" "0000728899" "00000375" "50" "599" "0" "599" "0" "c.599G>A" "r.(?)" "p.(Ser200Asn)" "" "0000728900" "00000375" "30" "938" "0" "938" "0" "c.938G>A" "r.(?)" "p.(Arg313His)" "" "0000732867" "00000375" "70" "1003" "0" "1003" "0" "c.1003C>T" "r.(?)" "p.(Arg335Cys)" "" "0000732874" "00000375" "70" "920" "0" "920" "0" "c.920T>G" "r.(?)" "p.(Leu307Arg)" "" "0000736842" "00000375" "50" "106" "0" "111" "0" "c.106_111del" "r.(?)" "p.(Ala36_Cys37del)" "" "0000784165" "00000375" "50" "1202" "0" "1202" "0" "c.1202C>G" "r.(?)" "p.(Pro401Arg)" "" "0000786416" "00000375" "90" "887" "0" "887" "0" "c.887G>T" "r.(?)" "p.(Gly296Val)" "" "0000788200" "00000375" "70" "85" "0" "108" "0" "c.85_108del" "r.(?)" "p.(Arg29_Ala36del)" "" "0000788201" "00000375" "70" "92" "0" "92" "0" "c.92G>A" "r.(?)" "p.(Cys31Tyr)" "" "0000788202" "00000375" "70" "137" "0" "137" "0" "c.137T>G" "r.(?)" "p.(Val46Gly)" "" "0000788203" "00000375" "70" "140" "0" "140" "0" "c.140G>C" "r.(?)" "p.(Arg47Pro)" "" "0000788204" "00000375" "70" "339" "0" "353" "0" "c.339_353del" "r.(?)" "p.(Glu114_Ala118del)" "" "0000788205" "00000375" "70" "350" "0" "350" "0" "c.350T>C" "r.(?)" "p.(Leu117Pro)" "" "0000788206" "00000375" "70" "350" "0" "350" "0" "c.350T>A" "r.(?)" "p.(Leu117Gln)" "" "0000788207" "00000375" "70" "368" "0" "368" "0" "c.368T>G" "r.(?)" "p.(Leu123Arg)" "" "0000788208" "00000375" "70" "425" "0" "425" "0" "c.425T>C" "r.(?)" "p.(Leu142Pro)" "" "0000788209" "00000375" "70" "482" "0" "482" "0" "c.482T>G" "r.(?)" "p.(Leu161Arg)" "" "0000788210" "00000375" "70" "573" "0" "574" "0" "c.573_574insATCGA" "r.(?)" "p.(Gly192IlefsTer158)" "" "0000788211" "00000375" "70" "607" "0" "607" "0" "c.607C>T" "r.(?)" "p.(Gln203Ter)" "" "0000788212" "00000375" "70" "782" "0" "782" "0" "c.782T>C" "r.(?)" "p.(Leu261Pro)" "" "0000788213" "00000375" "70" "848" "0" "849" "0" "c.848_849insAT" "r.(?)" "p.(Tyr284SerfsTer65)" "" "0000788214" "00000375" "70" "854" "0" "854" "0" "c.854T>G" "r.(?)" "p.(Leu285Arg)" "" "0000788215" "00000375" "70" "1038" "0" "1038" "0" "c.1038G>T" "r.(?)" "p.(Trp346Cys)" "" "0000788216" "00000375" "70" "1143" "0" "1155" "0" "c.1143_1155del" "r.(?)" "p.(Ser382ValfsTer7)" "" "0000788217" "00000375" "70" "1399" "0" "1400" "0" "c.1399_1400insGA" "r.(?)" "p.(Leu467ArgfsTer94)" "" "0000788239" "00000375" "70" "425" "0" "425" "0" "c.425T>C" "r.(?)" "p.(Leu142Pro)" "" "0000788240" "00000375" "70" "573" "0" "574" "0" "c.573_574insATCGA" "r.(?)" "p.(Gly192IlefsTer158)" "" "0000789762" "00000375" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "" "0000789763" "00000375" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "" "0000790165" "00000375" "50" "37" "1" "37" "1" "c.37+1G>C" "r.spl?" "p.?" "1i" "0000790166" "00000375" "50" "48" "0" "64" "0" "c.48_64del" "r.(?)" "p.(Leu18Argfs*91)" "2" "0000790167" "00000375" "50" "65" "0" "65" "0" "c.65G>A" "r.(?)" "p.(Trp22*)" "2" "0000790168" "00000375" "50" "92" "0" "92" "0" "c.92G>C" "r.(?)" "p.(Cys31Ser)" "2" "0000790169" "00000375" "50" "105" "0" "105" "0" "c.105C>A" "r.(?)" "p.(Cys35*)" "2" "0000790170" "00000375" "50" "143" "0" "143" "0" "c.143G>A" "r.(?)" "p.(Cys48Tyr)" "2" "0000790171" "00000375" "50" "169" "0" "169" "0" "c.169C>A" "r.(?)" "p.(Pro57Thr)" "2" "0000790172" "00000375" "50" "187" "0" "187" "0" "c.187G>T" "r.(?)" "p.(Glu63*)" "2" "0000790173" "00000375" "50" "191" "0" "191" "0" "c.191C>A" "r.(?)" "p.(Ala64Glu)" "2" "0000790174" "00000375" "50" "281" "0" "281" "0" "c.281G>C" "r.(?)" "p.(Arg94Pro)" "2" "0000790175" "00000375" "50" "302" "0" "304" "0" "c.302_304del" "r.(?)" "p.(Ile101del)" "2" "0000790176" "00000375" "50" "302" "0" "302" "0" "c.302T>C" "r.(?)" "p.(Ile101Thr)" "2" "0000790177" "00000375" "50" "427" "0" "427" "0" "c.427G>C" "r.(?)" "p.(Ala143Pro)" "2" "0000790178" "00000375" "50" "452" "0" "452" "0" "c.452C>T" "r.(?)" "p.(Pro151Leu)" "2" "0000790179" "00000375" "50" "445" "0" "465" "0" "c.445_465dup" "r.(?)" "p.(Ser149_Leu155dup)" "2" "0000790180" "00000375" "90" "518" "0" "518" "0" "c.518G>C" "r.(?)" "p.(Arg173Pro)" "2" "0000790182" "00000375" "50" "524" "0" "524" "0" "c.524C>G" "r.(?)" "p.(Pro175Arg)" "2" "0000790183" "00000375" "50" "551" "0" "551" "0" "c.551T>C" "r.(?)" 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"p.(Arg209Pro)" "2" "0000842762" "00000375" "90" "121" "0" "121" "0" "c.121del" "r.(?)" "p.(Glu41Serfs*100)" "2" "0000842763" "00000375" "90" "335" "0" "335" "0" "c.335T>C" "r.(?)" "p.(Leu112Pro)" "2" "0000842764" "00000375" "50" "529" "0" "530" "0" "c.529_530delinsAT" "r.(?)" "p.(Ala177Met)" "2" "0000842765" "00000375" "50" "529" "0" "530" "0" "c.529_530delinsAT" "r.(?)" "p.(Ala177Met)" "2" "0000842766" "00000375" "50" "529" "0" "530" "0" "c.529_530delinsAT" "r.(?)" "p.(Ala177Met)" "2" "0000842767" "00000375" "50" "529" "0" "530" "0" "c.529_530delinsAT" "r.(?)" "p.(Ala177Met)" "2" "0000842768" "00000375" "50" "529" "0" "530" "0" "c.529_530delinsAT" "r.(?)" "p.(Ala177Met)" "2" "0000842769" "00000375" "90" "373" "0" "379" "0" "c.373_379del" "r.(?)" "p.(Tyr125Thrfs*14)" "2" "0000842770" "00000375" "90" "373" "0" "379" "0" "c.373_379del" "r.(?)" "p.(Tyr125Thrfs*14)" "2" "0000842771" "00000375" "90" "373" "0" "379" "0" "c.373_379del" "r.(?)" "p.(Tyr125Thrfs*14)" "2" "0000842772" "00000375" "90" "373" "0" "379" "0" "c.373_379del" "r.(?)" "p.(Tyr125Thrfs*14)" "2" "0000842773" "00000375" "90" "373" "0" "379" "0" "c.373_379del" "r.(?)" "p.(Tyr125Thrfs*14)" "2" "0000842774" "00000375" "90" "373" "0" "379" "0" "c.373_379del" "r.(?)" "p.(Tyr125Thrfs*14)" "2" "0000842775" "00000375" "90" "373" "0" "379" "0" "c.373_379del" "r.(?)" "p.(Tyr125Thrfs*14)" "2" "0000842776" "00000375" "90" "373" "0" "379" "0" "c.373_379del" "r.(?)" "p.(Tyr125Thrfs*14)" "2" "0000842777" "00000375" "90" "373" "0" "379" "0" "c.373_379del" "r.(?)" "p.(Tyr125Thrfs*14)" "2" "0000842778" "00000375" "90" "214" "0" "214" "0" "c.214A>C" "r.(?)" "p.(Asn72His)" "2" "0000842779" "00000375" "90" "214" "0" "214" "0" "c.214A>C" "r.(?)" "p.(Asn72His)" "2" "0000842780" "00000375" "90" "214" "0" "214" "0" "c.214A>C" "r.(?)" "p.(Asn72His)" "2" "0000842781" "00000375" "90" "214" "0" "214" "0" "c.214A>C" "r.(?)" "p.(Asn72His)" "2" "0000842782" "00000375" "90" "214" "0" "214" "0" "c.214A>C" "r.(?)" "p.(Asn72His)" "2" "0000842783" "00000375" "90" "214" "0" "214" "0" "c.214A>C" "r.(?)" "p.(Asn72His)" "2" "0000842784" "00000375" "90" "214" "0" "214" "0" "c.214A>C" "r.(?)" "p.(Asn72His)" "2" "0000856608" "00000375" "30" "582" "0" "582" "0" "c.582C>A" "r.(?)" "p.(Ile194=)" "" "0000856609" "00000375" "50" "652" "0" "652" "0" "c.652G>T" "r.(?)" "p.(Val218Phe)" "" "0000869989" "00000375" "70" "38" "-1" "38" "0" "c.38-1_38delinsTT" "r.spl" "p.?" "" "0000874123" "00000375" "70" "559" "0" "559" "0" "c.559G>C" "r.(?)" "p.(Ala187Pro)" "" "0000874150" "00000375" "70" "925" "0" "925" "0" "c.925C>G" "r.(?)" "p.(Leu309Val)" "2" "0000874157" "00000375" "70" "930" "0" "930" "0" "c.930C>A" "r.(?)" "p.(Asn310Lys)" "2" "0000874158" "00000375" "70" "930" "0" "930" "0" "c.930C>A" "r.(?)" "p.(Asn310Lys)" "2" "0000874159" "00000375" "70" "930" "0" "930" "0" "c.930C>A" "r.(?)" "p.(Asn310Lys)" "2" "0000896220" "00000375" "50" "322" "0" "322" "0" "c.322G>A" "r.(?)" "p.(Gly108Ser)" "" "0000896221" "00000375" "30" "324" "0" "324" "0" "c.324C>T" "r.(?)" "p.(Gly108=)" "" "0000896222" "00000375" "90" "434" "0" "440" "0" "c.434_440del" "r.(?)" "p.(Cys145Serfs*38)" "" "0000896223" "00000375" "30" "636" "0" "636" "0" "c.636C>A" "r.(?)" "p.(Ser212Arg)" "" "0000896224" "00000375" "30" "945" "0" "945" "0" "c.945C>G" "r.(?)" "p.(Thr315=)" "" "0000896225" "00000375" "50" "1102" "0" "1102" "0" "c.1102G>A" "r.(?)" "p.(Val368Met)" "" "0000896226" "00000375" "70" "1388" "0" "1394" "0" "c.1388_1394del" "r.(?)" "p.(Ala463ValfsTer95)" "" "0000905893" "00000375" "90" "856" "0" "856" "0" "c.856del" "r.(?)" "p.(Asp286Thrfs*62)" "" "0000905894" "00000375" "90" "856" "0" "856" "0" "c.856del" "r.(?)" "p.(Asp286Thrfs*62)" "" "0000905896" "00000375" "90" "602" "0" "602" "0" "c.602C>A" "r.(?)" "p.(Ser201*)" "" "0000905903" "00000375" "50" "460" "0" "460" "0" "c.460C>T" "r.(?)" "p.(Leu154Phe)" "" "0000915862" "00000375" "50" "134" "0" "134" "0" "c.134C>T" "r.(?)" "p.(Ser45Leu)" "2" "0000916378" "00000375" "50" "92" "0" "92" "0" "c.92G>A" "r.(?)" "p.(Cys31Tyr)" "2" "0000927367" "00000375" "30" "582" "0" "582" "0" "c.582C>A" "r.(?)" "p.(Ile194=)" "" "0000927368" "00000375" "50" "1158" "0" "1158" "0" "c.1158T>G" "r.(?)" "p.(Cys386Trp)" "" "0000953885" "00000375" "90" "182" "0" "183" "0" "c.182_183insT" "r.(?)" "p.(Cys62ValfsTer53)" "" "0000953886" "00000375" "90" "38" "-1" "38" "0" "c.38-1_38delinsTT" "r.spl" "p.?" "" "0000954053" "00000375" "90" "38" "-1" "38" "0" "c.38-1_38delinsTT" "r.spl" "p.(Ala13VafsTer102)" "" "0000958193" "00000375" "70" "647" "0" "647" "0" "c.647A>G" "r.(?)" "p.(Asn216Ser)" "" "0000958194" "00000375" "90" "85" "0" "108" "0" "c.85_108del" "r.(?)" "p.(Arg29_Ala36del)" "" "0000958893" "00000375" "50" "746" "0" "746" "0" "c.746C>A" "r.(?)" "p.(Ala249Asp)" "" "0000959063" "00000375" "50" "310" "0" "310" "0" "c.310G>A" "r.(?)" "p.(Gly104Ser)" "" "0000971081" "00000375" "50" "551" "0" "551" "0" "c.551T>G" "r.(?)" "p.(Leu184Arg)" "" "0001006754" "00000375" "50" "1301" "0" "1301" "0" "c.1301C>T" "r.(?)" "p.(Thr434Ile)" "" "0001016031" "00000375" "30" "811" "0" "811" "0" "c.811C>T" "r.(?)" "p.(Arg271Cys)" "" "0001044331" "00000375" "30" "-45" "0" "-45" "0" "c.-45T>G" "r.(?)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 252 "{{screeningid}}" "{{variantid}}" "0000000209" "0000006636" "0000000210" "0000008692" "0000000210" "0000010897" "0000033222" "0000060123" "0000145130" "0000784165" "0000309762" "0000684635" "0000310406" "0000685317" "0000310407" "0000685318" "0000310408" "0000685319" "0000310409" "0000685320" "0000310410" "0000685321" "0000310411" "0000685322" "0000310412" "0000685323" "0000321021" "0000703794" "0000321022" "0000703795" "0000321023" "0000703796" "0000321024" "0000703796" "0000321025" "0000703797" "0000321026" "0000703797" "0000321027" "0000703798" "0000321028" "0000703799" "0000321029" "0000703799" "0000321030" "0000703800" "0000327889" "0000711682" "0000327890" "0000711683" "0000329131" "0000713254" "0000329346" "0000713469" "0000329690" "0000714047" "0000329691" "0000714048" "0000329692" "0000714049" "0000329693" "0000714050" "0000334860" "0000732867" "0000334867" "0000732874" "0000337212" 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