### LOVD-version 3000-28d ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = IMPDH1) # 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}}" "IMPDH1" "IMP (inosine 5\'-monophosphate) dehydrogenase 1" "7" "q31.3-q32" "unknown" "NG_009194.1" "UD_132085386641" "" "http://www.LOVD.nl/IMPDH1" "" "1" "6052" "3614" "146690" "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/IMPDH1_NM_000883.3_codingDNA.html" "1" "" "This database is one of the \"Eye disease\" gene variant databases." "-1" "" "-1" "00008" "2012-02-13 00:00:00" "00006" "2015-02-28 09:17:00" "00000" "2023-01-11 15:44:22" ## 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}}" "00000238" "IMPDH1" "transcript variant 1" "004" "NM_000883.3" "" "NP_000874.2" "" "" "" "-81" "2530" "1800" "128050036" "128032331" "00008" "2012-06-25 11:46:54" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 8 "{{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" "2016-10-22 17:54:40" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01543" "RP10" "retinitis pigmentosa, type 10 (RP10)" "AD" "180105" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03457" "LCA11" "Leber congenital amaurosis, type 11 (LCA-11)" "" "613837" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04211" "RPar" "retinitis pigmentosa, autosomal recessive (RPar)" "" "" "" "" "" "00006" "2015-02-27 18:58:57" "" "" "04214" "retinal disease" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00006" "2020-08-25 10:54:40" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "IMPDH1" "01543" "IMPDH1" "03457" ## Individuals ## Do not remove or alter this header ## ## Count = 208 "{{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" "" "" "" "" "00033156" "" "" "" "1" "" "00229" "" "" "F" "" "" "" "0" "" "" "" "" "00050581" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00095921" "" "" "" "1" "" "01769" "{PMID:Li 2017:28418496}" "" "M" "yes" "Pakistan" "" "0" "" "" "Pakistani" "61004" "00207605" "" "" "" "1" "" "01244" "" "" "F" "" "" "" "0" "" "" "" "" "00232850" "" "" "" "2" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232851" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232852" "" "" "" "2" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232853" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232854" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232855" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232856" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232857" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232858" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232859" "" "" "" "2" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232860" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232861" "" "" "" "2" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232862" "" "" "" "5" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232863" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232864" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232865" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232866" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00299641" "" "" "" "1" "" "00006" "{PMID:Arno 2017:28132693}" "2-generation family, 1 affeted" "M" "" "" "" "0" "" "" "" "FamGC3626Pat2" "00308513" "" "" "" "2" "" "00004" "{PMID:Holtan 2020:31429209}" "2 patients with variant in heterozygous or compound heterozygous form" "" "" "Norway" "" "0" "" "" "" "" "00308514" "" "" "" "1" "" "00004" "{PMID:Holtan 2020:31429209}" "1 patient with variant in heterozygous or compound heterozygous form" "" "" "Norway" "" "0" "" "" "" "" "00308515" "" "" "" "1" "" "00004" "{PMID:Holtan 2020:31429209}" "1 patient with variant in heterozygous or compound heterozygous form" "" "" "Norway" "" "0" "" "" "" "" "00309195" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" "" "00326685" "" "" "" "1" "" "00008" "{PMID:Ziviello 2005:15994872}" "" "" "" "Italy" "" "0" "" "" "" "" "00332048" "" "" "" "1" "" "00000" "{PMID:Birtel 2018:29555955}" "family" "M" "" "Germany" "" "0" "" "" "" "Pat186" "00333345" "" "" "" "9" "" "00000" "{PMID:Villanueva 2018:28945494}" "4-generation family, 9 affected (5F, 4M)" "F;M" "" "" "" "0" "" "" "" "RD11" "00333404" "" "" "" "1" "" "00000" "{PMID:Wang 2017:28838317}" "" "" "" "United States" "" "0" "" "" "" "RD11–08" "00333405" "" "" "" "1" "" "00000" "{PMID:Wang 2017:28838317}" "" "" "" "United States" "" "0" "" "" "" "RD15–03" "00333972" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "M" "" "(United States)" "" "0" "" "" "" "436" "00333973" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "F" "" "(United States)" "" "0" "" "" "" "437" "00334419" "" "" "" "1" "" "00000" "{PMID:Huang 2017:28512305}" "family" "" "" "China" "" "0" "" "" "" "RP-121" "00334573" "" "" "" "2" "" "00000" "{PMID:Vincent 2017:28488341}" "family, 2 affected, patient and mother" "M" "yes" "New Zealand" "" "0" "" "" "Maori" "374" "00335123" "" "" "" "1" "" "00000" "{PMID:Haer-Wigman 2017:28224992}" "patient" "" "no" "Netherlands" "" "0" "" "" "" "8748" "00335428" "" "" "" "1" "" "00000" "{PMID:Huang 2018:29641573}" "" "" "" "" "" "0" "" "" "" "RP053" "00335643" "" "" "" "20" "" "00008" "{PMID:Sullivan 2006:16799052}" "5 families" "" "" "United States" "" "0" "" "" "" "" "00358779" "" "" "" "1" "" "00000" "{PMID:Zhang 2016:27596865}" "family" "M" "" "United States" "" "0" "" "" "Hispanic" "BLM091" "00359374" "" "" "" "1" "" "00000" "{PMID:Bravo-Gil 2016:27032803}" "see paper" "" "" "Spain" "" "0" "" "" "" "63" "00363419" "" "" "" "1" "" "00000" "{PMID:Coussa 2015:26720483}" "index patient" "" "" "Canada" "" "0" "" "" "French-Canadian" "" "00368357" "" "" "" "1" "" "01695" "{PMID:Xu 2014:24938718}" "Olders sister affected as well" "M" "no" "China" "" "0" "" "" "China" "RP342" "00372629" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "family" "M" "" "China" "" "0" "" "" "" "RP042" "00372646" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "family" "M" "" "China" "" "0" "" "" "" "RP339" "00372651" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "patient" "F" "" "China" "" "0" "" "" "" "RP382" "00372652" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "patient" "M" "" "China" "" "0" "" "" "" "RP331" "00372661" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "patient" "M" "" "China" "" "0" "" "" "" "RP219" "00372670" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "patient" "F" "" "China" "" "0" "" "" "" "RP201" "00372708" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "" "" "" "China" "" "0" "" "" "" "RP200" "00372733" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "" "" "" "China" "" "0" "" "" "" "RP092" "00372736" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "" "" "" "China" "" "0" "" "" "" "RP224" "00372746" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "" "" "" "China" "" "0" "" "" "" "RP329" "00372751" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "" "" "" "China" "" "0" "" "" "" "RP388" "00373474" "" "" "" "4" "" "00000" "{PMID:Fernandez-San Jose 2015:25698705}" "family, 4 affected" "" "" "Spain" "" "0" "" "" "" "RP0422" "00373481" "" "" "" "3" "" "00000" "{PMID:Fernandez-San Jose 2015:25698705}" "family, 3 affected" "" "" "Spain" "" "0" "" "" "" "RP1903" "00373838" "" "" "" "1" "" "00000" "{PMID:Zhao 2015:25472526}" "simplex case" "" "" "Northern Ireland" "" "0" "" "" "" "Rp29" "00373931" "" "" "" "1" "" "00000" "{PMID:Consugar 2015:25412400}" "" "" "" "United States" "" "0" "" "" "" "OGI-274-582" "00375451" "" "" "" "10" "" "00000" "{PMID:Pan 2014:24940031}" "5-generation family, 10 affected (4F, 6M)" "" "" "China" "" "0" "" "" "" "Fam04" "00376175" "" "" "" "1" "" "00000" "{PMID:Jin 2008:18310263}" "" "" "" "Japan" "" "0" "" "" "" "" "00376764" "" "" "" "1" "" "00000" "{PMID:Wang 2014:25097241}" "" "M" "" "United States" "" "0" "" "" "" "26" "00376768" "" "" "" "1" "" "00000" "{PMID:Wang 2014:25097241}" "" "M" "" "United States" "" "0" "" "" "" "30" "00376770" "" "" "" "1" "" "00000" "{PMID:Wang 2014:25097241}" "" "M" "" "United States" "" "0" "" "" "" "34" "00376772" "" "" "" "1" "" "00000" "{PMID:Wang 2014:25097241}" "" "M" "" "United States" "" "0" "" "" "" "36" "00377203" "" "" "" "1" "" "00000" "Tracewska 2021, MolVis in press" "proband" "F" "no" "Poland" "" "0" "yes" "" "Slavic" "283" "00377214" "" "" "" "1" "" "00000" "Tracewska 2021, MolVis in press" "proband" "M" "no" "Poland" "" "0" "yes" "" "Slavic" "310" "00377274" "" "" "" "1" "" "00000" "Tracewska 2021, MolVis in press" "proband" "F" "no" "Poland" "" "0" "yes" "" "Slavic" "477" "00377376" "" "" "" "1" "" "00000" "{PMID:Martin-Merida 2018:29847639}" "" "" "" "Spain" "" "0" "" "" "" "?" "00377377" "" "" "" "1" "" "00000" "{PMID:Martin-Merida 2018:29847639}" "" "" "" "Spain" "" "0" "" "" "" "?" "00377378" "" "" "" "1" "" "00000" "{PMID:Martin-Merida 2018:29847639}" "" "" "" "Spain" "" "0" "" "" "" "?" "00377379" "" "" "" "1" "" "00000" "{PMID:Martin-Merida 2018:29847639}" "" "" "" "Spain" "" "0" "" "" "" "?" "00377380" "" "" "" "1" "" "00000" "{PMID:Martin-Merida 2018:29847639}" "" "" "" "Spain" "" "0" "" "" "" "?" "00377381" "" "" "" "1" "" "00000" "{PMID:Martin-Merida 2018:29847639}" "" "" "" "Spain" "" "0" "" "" "" "?" "00377530" "" "" "" "1" "" "00000" "{PMID:Hosono2018:29844330}" "proband, family EYE125" "M" "no" "Japan" "" "0" "" "" "Asian" "EYE125" "00379665" "" "" "" "1" "" "03508" "" "" "F" "" "Korea, South (Republic)" "" "" "" "" "" "IR_GS_0050" "00379842" "" "" "" "1" "" "00000" "{PMID:Wang 2018:30029497}" "" "F" "?" "China" "" "0" "" "" "Han Chinese" "2016102415" "00379843" "" "" "" "1" "" "00000" "{PMID:Wang 2018:30029497}" "" "M" "?" "China" "" "0" "" "" "Han Chinese" "2016121222" "00381036" "" "" "" "1" "" "00000" "{PMID:Chen-2013:23661368}" "" "M" "" "China" "" "0" "" "" "Chinese" "" "00381758" "" "" "" "1" "" "00000" "{PMID:Sullivan-2013:23950152}" "" "" "no" "" "" "0" "" "" "" "" "00382319" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "148" "00382320" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "149" "00382365" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "194" "00382552" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "414" "00382553" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "415" "00383430" "" "" "" "1" "" "00000" "{PMID:Khan 2019:31725702}" "" "F" "" "" "" "0" "" "" "" "" "00384383" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31106028}" "" "F" "" "China" "" "0" "" "" "" "14114" "00384419" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31106028}" "" "M" "" "China" "" "0" "" "" "" "14403" "00385035" "" "" "" "1" "" "00000" "{PMID:Xu 2020:31630094}" "" "?" "no" "China" "" "0" "" "" "" "19522" "00386195" "" "" "" "1" "" "00000" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "?" "" "Spain" "" "0" "" "" "" "RPN-311" "00386212" "" "" "" "1" "" "00000" "{PMID:Rodriguez-Munoz 2020:32036094}" "family fRPN-167, proband" "F" "" "Spain" "" "0" "" "" "" "RPN-333" "00386299" "" "" "" "1" "" "00000" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "?" "" "Spain" "" "0" "" "" "" "RP-677" "00386548" "" "" "" "1" "" "00000" "{PMID:Zampaglione-2020:32037395}" "" "?" "" "" "" "0" "" "" "" "001-088" "00386760" "" "" "" "1" "" "00000" "{PMID:Zampaglione-2020:32037395}" "" "?" "" "" "" "0" "" "" "" "OGI2908_004493" "00387381" "" "" "" "1" "" "00000" "{PMID:Sun-2020:32100970}" "" "M" "" "China" "" "0" "" "" "" "1" "00388566" "" "" "" "1" "" "00000" "{PMID:Dineiro 2020:32483926}" "" "?" "" "Spain" "" "0" "" "" "" "OFTALMO.047" "00389269" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 198, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "553" "00389270" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 198, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "554" "00389474" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 293, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "758" "00389483" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 297, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "767" "00389628" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 388, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "912" "00390029" "" "" "" "1" "" "00000" "{PMID:Ruberto 2020:32507954}" "" "?" "" "Italy" "" "0" "" "" "" "16" "00392330" "" "" "" "1" "" "00000" "{PMID:Xiao-2021:33598457}" "" "M" "" "China" "" "0" "" "" "" "191246" "00392362" "" "" "" "1" "" "00000" "{PMID:Xiao-2021:33598457}" "" "F" "" "China" "" "0" "" "" "" "19522" "00392665" "" "" "" "1" "" "00000" "{PMID:Ma 2021:33691693}" "" "?" "" "Korea" "" "0" "" "" "" "157" "00392666" "" "" "" "1" "" "00000" "{PMID:Ma 2021:33691693}" "" "?" "" "Korea" "" "0" "" "" "" "158" "00393540" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "M" "" "" "" "0" "" "" "" "" "00393612" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "M" "" "" "" "0" "" "" "" "" "00393762" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "M" "" "" "" "0" "" "" "" "" "00393896" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "F" "" "" "" "0" "" "" "" "" "00394479" "" "" "" "1" "" "00000" "{PMID:Colombo-2020:33576794}" "" "M" "no" "" "" "0" "" "" "" "" "00395965" "" "" "" "1" "" "00000" "{PMID:Georgiou 2021:32795431}" "pedigree ID: 20700, genetic ID: 31900" "M" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "P11" "00395966" "" "" "" "1" "" "00000" "{PMID:Georgiou 2021:32795431}" "pedigree ID: 18732, genetic ID: 28954" "F" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "P12" "00395967" "" "" "" "1" "" "00000" "{PMID:Georgiou 2021:32795431}" "pedigree ID: 24034, genetic ID: 37043" "F" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "P13" "00407244" "" "" "" "1" "" "00000" "{PMID:Kennan 2002:11875049}" "8513324_Jordan 1993" "" "" "Spain" "" "0" "" "" "Spanish" "FA84" "00407245" "" "" "" "24" "" "00000" "{PMID:Bowne 2002:11875050}" "" "" "" "United States" "" "0" "" "" "American" "UTAD045" "00407246" "" "" "" "13" "" "00000" "{PMID:Bowne 2002:11875050}" "" "" "" "United States" "" "0" "" "" "American" "RFS015" "00407247" "" "" "" "4" "" "00000" "{PMID:Bowne 2002:11875050}" "" "" "" "" "" "0" "" "" "British" "UTAD278" "00407248" "" "" "" "1" "" "00000" "{PMID:Bowne 2002:11875050}" "" "" "" "United States" "" "0" "" "" "American" "UTAD177" "00407249" "" "" "" "1" "" "00000" "{PMID:Bowne 2002:11875050}" "" "" "" "United States" "" "0" "" "" "American" "UTAD389" "00407250" "" "" "" "1" "" "00000" "{PMID:Grover 2004:15465556}" "" "F" "" "(United States)" "" "0" "" "" "" "1" "00407251" "" "" "" "1" "" "00000" "{PMID:Grover 2004:15465556}" "" "F" "" "(United States)" "" "0" "" "" "" "2" "00407252" "" "" "" "1" "" "00000" "{PMID:Grover 2004:15465556}" "" "M" "" "(United States)" "" "0" "" "" "" "3" "00407253" "" "" "" "1" "" "00000" "{PMID:Grover 2004:15465556}" "" "F" "" "(United States)" "" "0" "" "" "" "4" "00407254" "" "" "" "1" "" "00000" "{PMID:Grover 2004:15465556}" "" "M" "" "(United States)" "" "0" "" "" "" "5" "00407255" "" "" "" "1" "" "00000" "{PMID:Grover 2004:15465556}" "" "M" "" "(United States)" "" "0" "" "" "" "6" "00407256" "" "" "" "1" "" "00000" "{PMID:Grover 2004:15465556}" "" "M" "" "(United States)" "" "0" "" "" "" "7" "00407257" "" "" "" "1" "" "00000" "{PMID:Grover 2004:15465556}" "" "F" "" "(United States)" "" "0" "" "" "" "8" "00407258" "" "" "" "1" "" "00000" "{PMID:Grover 2004:15465556}" "" "F" "" "(United States)" "" "0" "" "" "" "9" "00407259" "" "" "" "1" "" "00000" "{PMID:Grover 2004:15465556}" "" "F" "" "(United States)" "" "0" "" "" "" "10" "00407260" "" "" "" "1" "" "00000" "{PMID:Grover 2004:15465556}" "" "M" "" "(United States)" "" "0" "" "" "" "11" "00407261" "" "" "" "1" "" "00000" "{PMID:Grover 2004:15465556}" "" "M" "" "(United States)" "" "0" "" "" "" "12" "00407262" "" "" "" "1" "" "00000" "{PMID:Grover 2004:15465556}" "" "F" "" "(United States)" "" "0" "" "" "" "13" "00407263" "" "" "" "1" "" "00000" "{PMID:Grover 2004:15465556}" "" "F" "" "(United States)" "" "0" "" "" "" "14" "00407264" "" "" "" "1" "" "00000" "{PMID:Grover 2004:15465556}" "" "F" "" "(United States)" "" "0" "" "" "" "15" "00407265" "" "" "" "1" "" "00000" "{PMID:Grover 2004:15465556}" "" "M" "" "(United States)" "" "0" "" "" "" "16" "00407266" "" "" "" "1" "" "00000" "{PMID:Wada 2005:15851576}" "" "M" "" "United States" "" "0" "" "" "American" "001-275" "00407267" "" "" "" "1" "" "00000" "{PMID:Wada 2005:15851576}" "" "M" "" "United States" "" "0" "" "" "American" "15564" "00407268" "" "" "" "1" "" "00000" "{PMID:Wada 2005:15851576}" "" "M" "" "United States" "" "0" "" "" "American" "3066" "00407269" "" "" "" "1" "" "00000" "{PMID:Wada 2005:15851576}" "" "F" "" "United States" "" "0" "" "" "American" "001-171" "00407270" "" "" "" "1" "" "00000" "{PMID:Wada 2005:15851576}" "" "F" "" "United States" "" "0" "" "" "American" "001-540" "00407271" "" "" "" "1" "" "00000" "{PMID:Wada 2005:15851576}" "" "M" "" "United States" "" "0" "" "" "American" "001-190" "00407272" "" "" "" "1" "" "00000" "{PMID:Wada 2005:15851576}" "" "F" "" "United States" "" "0" "" "" "American" "001-117" "00407273" "" "" "" "1" "" "00000" "{PMID:Wada 2005:15851576}" "" "F" "" "United States" "" "0" "" "" "American" "001-170" "00407274" "" "" "" "1" "" "00000" "{PMID:Wada 2005:15851576}" "" "M" "" "United States" "" "0" "" "" "American" "5033" "00407275" "" "" "" "1" "" "00000" "{PMID:Wada 2005:15851576}" "" "M" "" "United States" "" "0" "" "" "American" "001-177" "00407276" "" "" "" "1" "" "00000" "{PMID:Wada 2005:15851576}" "" "F" "" "United States" "" "0" "" "" "American" "001-168" "00407277" "" "" "" "1" "" "00000" "{PMID:Wada 2005:15851576}" "" "M" "" "United States" "" "0" "" "" "American" "001-127" "00407278" "" "" "" "1" "" "00000" "{PMID:Wada 2005:15851576}" "" "F" "" "United States" "" "0" "" "" "American" "001-154" "00407279" "" "" "" "1" "" "00000" "{PMID:Wada 2005:15851576}" "" "F" "" "United States" "" "0" "" "" "American" "001-149" "00407280" "" "" "" "1" "" "00000" "{PMID:Wada 2005:15851576}" "" "M" "" "United States" "" "0" "" "" "American" "001-005" "00407282" "" "" "" "1" "" "00000" "{PMID:Wada 2005:15851576}" "" "M" "" "United States" "" "0" "" "" "American" "3036" "00407283" "" "" "" "1" "" "00000" "{PMID:Wada 2005:15851576}" "" "M" "" "United States" "" "0" "" "" "American" "001-163" "00407284" "" "" "" "1" "" "00000" "{PMID:Wada 2005:15851576}" "" "M" "" "United States" "" "0" "" "" "American" "001-394" "00407285" "" "" "" "1" "" "00000" "{PMID:Wada 2005:15851576}" "" "M" "" "United States" "" "0" "" "" "American" "001-192" "00407286" "" "" "" "1" "" "00000" "{PMID:Wada 2005:15851576}" "" "F" "" "United States" "" "0" "" "" "American" "001-273" "00407287" "" "" "" "1" "" "00000" "{PMID:Wada 2005:15851576}" "" "M" "" "United States" "" "0" "" "" "American" "038-060" "00407288" "" "" "" "1" "" "00000" "{PMID:Wada 2005:15851576}" "" "M" "" "United States" "" "0" "" "" "American" "001-278" "00407289" "" "" "" "1" "" "00000" "{PMID:Wada 2005:15851576}" "" "M" "" "United States" "" "0" "" "" "American" "001-288" "00407290" "" "" "" "1" "" "00000" "{PMID:Wada 2005:15851576}" "" "M" "" "United States" "" "0" "" "" "American" "" "00407291" "" "" "" "1" "" "00000" "{PMID:Wada 2005:16038673}" "" "F" "" "Japan" "" "0" "" "" "Japanese" "" "00407292" "" "" "" "1" "" "00000" "{PMID:Wada 2005:16038673}" "" "M" "" "Japan" "" "0" "" "" "Japanese" "" "00407293" "" "" "" "1" "" "00000" "{PMID:Kozma 2005:16214101}" "" "F" "" "(United States)" "" "0" "" "" "" "IV/5" "00407294" "" "" "" "1" "" "00000" "{PMID:Kozma 2005:16214101}" "" "M" "" "(United States)" "" "0" "" "" "" "V/11" "00407295" "" "" "" "1" "" "00000" "{PMID:Kozma 2005:16214101}" "" "F" "" "(United States)" "" "0" "" "" "" "V/10" "00407296" "" "" "" "1" "" "00000" "{PMID:Kozma 2005:16214101}" "" "F" "" "(United States)" "" "0" "" "" "" "V/14" "00407297" "" "" "" "1" "" "00000" "{PMID:Kozma 2005:16214101}" "" "M" "" "(United States)" "" "0" "" "" "" "VI/1" "00407298" "" "" "" "1" "" "00000" "{PMID:Kozma 2005:16214101}" "" "M" "" "(United States)" "" "0" "" "" "" "VI/2" "00407299" "" "" "" "1" "" "00000" "{PMID:Kozma 2005:16214101}" "" "M" "" "(United States)" "" "0" "" "" "" "VI/9" "00407300" "" "" "" "1" "" "00000" "{PMID:Kozma 2005:16214101}" "" "F" "" "(United States)" "" "0" "" "" "" "VI/4" "00407301" "" "" "" "1" "" "00000" "{PMID:Kozma 2005:16214101}" "" "F" "" "(United States)" "" "0" "" "" "" "VI/5" "00407302" "" "" "" "1" "" "00000" "{PMID:Kozma 2005:16214101}" "" "M" "" "(United States)" "" "0" "" "" "" "VI/6" "00407303" "" "" "" "1" "" "00000" "{PMID:Kozma 2005:16214101}" "" "M" "" "(United States)" "" "0" "" "" "" "VI/25" "00407304" "" "" "" "1" "" "00000" "{PMID:Schatz 2005:16272056}" "" "F" "" "Sweden" "" "0" "" "" "Swedish" "II:1" "00407305" "" "" "" "1" "" "00000" "{PMID:Schatz 2005:16272056}" "" "F" "" "Sweden" "" "0" "" "" "Swedish" "III:1" "00407306" "" "" "" "1" "" "00000" "{PMID:Schatz 2005:16272056}" "" "M" "" "Sweden" "" "0" "" "" "Swedish" "III:3" "00407307" "" "" "" "1" "" "00000" "{PMID:Schatz 2005:16272056}" "" "F" "" "Sweden" "" "0" "" "" "Swedish" "IV:5" "00407308" "" "" "" "1" "" "00000" "{PMID:Schatz 2005:16272056}" "" "F" "" "Sweden" "" "0" "" "" "Swedish" "IV:6" "00407309" "" "" "" "1" "" "00000" "{PMID:Schatz 2005:16272056}" "" "F" "" "Sweden" "" "0" "" "" "Swedish" "IV:7" "00407310" "" "" "" "1" "" "00000" "{PMID:Bowne 2006:16384941}" "" "" "" "(United States)" "" "0" "" "" "" "UTAD030" "00407311" "" "" "" "1" "" "00000" "{PMID:Bowne 2006:16384941}" "" "" "" "(United States)" "" "0" "" "" "" "UTAD177" "00407312" "" "" "" "1" "" "00000" "{PMID:Bowne 2006:16384941}" "" "" "" "(United States)" "" "0" "" "" "" "UTAD557" "00407313" "" "" "" "1" "" "00000" "{PMID:Bowne 2006:16384941}" "" "" "" "(United States)" "" "0" "" "" "" "UTAD026" "00407314" "" "" "" "1" "" "00000" "{PMID:Bowne 2006:16384941}" "" "" "" "(United States)" "" "0" "" "" "" "UTAD083" "00407315" "" "" "" "1" "" "00000" "{PMID:Bowne 2006:16384941}" "" "" "" "(United States)" "" "0" "" "" "" "UTAD067" "00407316" "" "" "" "1" "" "00000" "{PMID:Bowne 2006:16384941}" "" "" "" "(United States)" "" "0" "" "" "" "UTAD904" "00407317" "" "" "" "1" "" "00000" "{PMID:Bowne 2006:16384941}" "" "" "" "(United States)" "" "0" "" "" "" "UTAD389" "00407318" "" "" "" "1" "" "00000" "{PMID:Bowne 2006:16384941}" "" "" "" "(United States)" "" "0" "" "" "" "UTAD463" "00407319" "" "" "" "1" "" "00000" "{PMID:Bowne 2006:16384941}" "" "" "" "(United States)" "" "0" "" "" "" "UTAD391" "00407320" "" "" "" "1" "" "00000" "{PMID:Bowne 2006:16384941}" "" "" "" "(United States)" "" "0" "" "" "" "RFS246" "00407355" "" "" "" "1" "" "00000" "{PMID:Borràs 2013:23534816}" "" "" "" "Spain" "" "0" "" "" "Spanish" "RP-93" "00408834" "" "" "" "5" "" "00000" "{PMID:Jin-2014:24791140}" "Family, 6 affected (4M;2F) (one not tested)" "M;F" "" "China" "" "0" "" "" "Chinese" "Family-012" "00408837" "" "" "" "4" "" "00000" "{PMID:Ali-2015:25439607}" "4 affected (2M;2F), individual 10 was homozygous for the variant but was not clinically examinated." "M;F" "" "Pakistan" "" "0" "" "" "" "Fam PKRP004: 15,16,18,21" "00408838" "" "" "" "9" "" "00000" "{PMID:Ali-2015:25439607}" "9 carriers, phenotypically normal without any clinical manifestation of RP." "M;F" "" "Pakistan" "" "0" "" "" "" "Fam PKRP004" "00408839" "" "" "" "1" "" "00000" "{PMID:Bennett-2020:32821486}" "" "M" "" "(United States)" "" "0" "" "" "american Indian/white/not hispanic" "P1" "00408840" "" "" "" "1" "" "00000" "{PMID:Bennett-2020:32821486}" "" "F" "" "(United States)" "" "0" "" "" "american Indian/white/not hispanic" "P2" "00408841" "" "" "" "1" "" "00000" "{PMID:Bennett-2020:32821486}" "" "M" "" "(United States)" "" "0" "" "" "american Indian/white/not hispanic" "P3" "00408842" "" "" "" "1" "" "00000" "{PMID:Bennett-2020:32821486}" "" "F" "" "(United States)" "" "0" "" "" "white/not hispanic" "P4" "00408843" "" "" "" "1" "" "00000" "{PMID:Bennett-2020:32821486}" "" "F" "" "(United States)" "" "0" "" "" "white/not hispanic" "P5" "00408844" "" "" "" "1" "" "00000" "{PMID:Bennett-2020:32821486}" "" "F" "" "(United States)" "" "0" "" "" "white/not hispanic" "P6" "00408845" "" "" "" "1" "" "00000" "{PMID:Bennett-2020:32821486}" "" "F" "" "(United States)" "" "0" "" "" "white/not hispanic" "P7" "00408846" "" "" "" "1" "" "00000" "{PMID:Bennett-2020:32821486}" "" "M" "" "(United States)" "" "0" "" "" "white/not hispanic" "P8" "00408847" "" "" "" "1" "" "00000" "{PMID:Bennett-2020:32821486}" "" "F" "" "(United States)" "" "0" "" "" "white/not hispanic" "P9" "00408848" "" "" "" "1" "" "00000" "{PMID:Bennett-2020:32821486}" "" "M" "" "(United States)" "" "0" "" "" "white/not hispanic" "P10" "00408849" "" "" "" "1" "" "00000" "{PMID:Bennett-2020:32821486}" "" "F" "" "(United States)" "" "0" "" "" "white/not hispanic" "P11" "00408850" "" "" "" "1" "" "00000" "{PMID:Bennett-2020:32821486}" "" "F" "" "(United States)" "" "0" "" "" "white/not hispanic" "P12" "00414351" "" "" "" "1" "" "00000" "{PMID:Sun 2018:30076350}" "" "F" "" "China" "" "0" "" "" "" "WHP18" "00414352" "" "" "" "1" "" "00000" "{PMID:Sun 2018:30076350}" "" "M" "" "China" "" "0" "" "" "" "WHP19" "00426942" "" "" "" "1" "" "00000" "{PMID:Zhu 2022:35456422}" "family 45, individual 54" "F" "" "" "" "0" "" "" "" "45_54" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 208 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00033156" "04214" "00050581" "00198" "00095921" "04211" "00207605" "04214" "00232850" "04214" "00232851" "04214" "00232852" "04214" "00232853" "04214" "00232854" "04214" "00232855" "04214" "00232856" "04214" "00232857" "04214" "00232858" "04214" "00232859" "04214" "00232860" "04214" "00232861" "04214" "00232862" "04214" "00232863" "04214" "00232864" "04214" "00232865" "04214" "00232866" "04214" "00299641" "04214" "00308513" "04214" "00308514" "04214" "00308515" "04214" "00309195" "04214" "00326685" "04214" "00332048" "04214" "00333345" "04214" "00333404" "04214" "00333405" "04214" "00333972" "04214" "00333973" "04214" "00334419" "04214" "00334573" "04214" "00335123" "00198" "00335428" "04214" "00335643" "04214" "00358779" "04214" "00359374" "04214" "00363419" "04214" "00368357" "04214" "00372629" "04214" "00372646" "04214" "00372651" "04214" "00372652" "04214" "00372661" "04214" "00372670" "04214" "00372708" "04214" "00372733" "04214" "00372736" "04214" "00372746" "04214" "00372751" "04214" "00373474" "04214" "00373481" "04214" "00373838" "04214" "00373931" "04214" "00375451" "04214" "00376175" "04214" "00376764" "04214" "00376768" "04214" "00376770" "04214" "00376772" "04214" "00377203" "04214" "00377214" "04214" "00377274" "04214" "00377376" "04214" "00377377" "04214" "00377378" "04214" "00377379" "04214" "00377380" "04214" "00377381" "04214" "00377530" "04214" "00379665" "00112" "00379842" "04214" "00379843" "04214" "00381036" "04214" "00381758" "04214" "00382319" "04214" "00382320" "04214" "00382365" "04214" "00382552" "04214" "00382553" "04214" "00383430" "04214" "00384383" "04214" "00384419" "04214" "00385035" "04214" "00386195" "04214" "00386212" "04214" "00386299" "04214" "00386548" "04214" "00386760" "04214" "00387381" "04214" "00388566" "04214" "00389269" "04214" "00389270" "04214" "00389474" "04214" "00389483" "04214" "00389628" "04214" "00390029" "04214" "00392330" "04214" "00392362" "04214" "00392665" "04214" "00392666" "04214" "00393540" "04214" "00393612" "04214" "00393762" "04214" "00393896" "04214" "00394479" "04214" "00395965" "04214" "00395966" "04214" "00395967" "04214" "00407244" "04214" "00407245" "04214" "00407246" "04214" "00407247" "04214" "00407248" "04214" "00407249" "04214" "00407250" "04214" "00407251" "04214" "00407252" "04214" "00407253" "04214" "00407254" "04214" "00407255" "04214" "00407256" "04214" "00407257" "04214" "00407258" "04214" "00407259" "04214" "00407260" "04214" "00407261" "04214" "00407262" "04214" "00407263" "04214" "00407264" "04214" "00407265" "04214" "00407266" "04214" "00407267" "04214" "00407268" "04214" "00407269" "04214" "00407270" "04214" "00407271" "04214" "00407272" "04214" "00407273" "04214" "00407274" "04214" "00407275" "04214" "00407276" "04214" "00407277" "04214" "00407278" "04214" "00407279" "04214" "00407280" "04214" "00407282" "04214" "00407283" "04214" "00407284" "04214" "00407285" "04214" "00407286" "04214" "00407287" "04214" "00407288" "04214" "00407289" "04214" "00407290" "04214" "00407291" "04214" "00407292" "04214" "00407293" "04214" "00407294" "04214" "00407295" "04214" "00407296" "04214" "00407297" "04214" "00407298" "04214" "00407299" "04214" "00407300" "04214" "00407301" "04214" "00407302" "04214" "00407303" "04214" "00407304" "04214" "00407305" "04214" "00407306" "04214" "00407307" "04214" "00407308" "04214" "00407309" "04214" "00407310" "04214" "00407311" "04214" "00407312" "04214" "00407313" "04214" "00407314" "04214" "00407315" "04214" "00407316" "04214" "00407317" "04214" "00407318" "04214" "00407319" "04214" "00407320" "04214" "00407355" "04214" "00408834" "04214" "00408837" "04214" "00408838" "00000" "00408839" "04214" "00408840" "04214" "00408841" "04214" "00408842" "04214" "00408843" "04214" "00408844" "04214" "00408845" "04214" "00408846" "04214" "00408847" "04214" "00408848" "04214" "00408849" "04214" "00408850" "04214" "00414351" "00198" "00414352" "00198" "00426942" "04214" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00112, 00198, 01157, 01543, 03457, 04211, 04214 ## Count = 190 "{{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}}" "0000026585" "04214" "00033156" "00229" "Unknown" "09y" "obesity, familial hypercholesterolemia, recurrent cystitis (5y), heart murmur" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000037193" "00198" "00050581" "00006" "Isolated (sporadic)" "" "patent ductus arteriosus, midline central nervous system lipomas, global developmental delay, abnormality of the sclera, short philtrum" "" "" "" "" "" "" "" "" "" "" "" "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" "" "" "" "" "" "" "" "" "" "0000074210" "04211" "00095921" "01769" "Familial, autosomal recessive" "" "Progressive RP" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000155415" "04214" "00207605" "01244" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000226951" "04214" "00299641" "00006" "Familial, autosomal recessive" "51y" "see paper; ..., 29y-photopsia (HP:0030786), slightly reduced acuity (HP:0007663), mild nyctalopia (HP:0000662); irregular pigmented lesions in periphery(HP:0007703), pale discs (HP:0000543), cystoid macular edema (HP:0011505), peripheral telangiectasia (HP:0007763) with some retinal edema (HP:0020120) and vitreous cells (HP:0004327), possible para-arteriolar sparing; 29y-ERG no identifiable responses other than a minimal, delayed response to 30Hz flicker (PERG, EOG and ERG tested), severe photoreceptor dysfunction; 29y-colour vision Ishihara 15/15 each eye; 29y-Goldmann visual fields ring scotoma at 30 degrees, binocular Esterman age 36: central 20 degrees only retained; presenting VA logMAR (Snellen) R 0.48 (20/60), L 0.3 (20/40); latest VA logMAR R 1.8 (20/1250), L 1.5 (20/630); latest refractive error, dioptres R -1.00/-1.00x5, L +0.75/-1.00x90" "29y" "" "" "" "" "" "" "" "RP78" "retinitis pigmentosa" "" "0000233941" "04214" "00308513" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000233942" "04214" "00308514" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000233943" "04214" "00308515" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000234515" "04214" "00309195" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000245151" "04214" "00326685" "00008" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (ADRP)" "" "0000250239" "04214" "00332048" "00000" "Familial, autosomal dominant" "58y" "reduced visual acuity; scotopic ERG normal; photopic ERG normal" "58y" "" "reduced visual acuity" "" "" "" "" "" "" "macular dystrophy or cone-rod dystrophy" "" "0000251531" "04214" "00333345" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal degeneration" "" "0000251591" "04214" "00333404" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "RP" "" "0000251592" "04214" "00333405" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "RP" "" "0000252157" "04214" "00333972" "00000" "Isolated (sporadic)" "9y" "clinical category IA2c" "" "" "" "" "" "" "" "" "" "early childhood onset retinal dystrophy" "" "0000252158" "04214" "00333973" "00000" "Isolated (sporadic)" "24y" "clinical category IA2c" "" "" "" "" "" "" "" "" "" "early childhood onset retinal dystrophy" "" "0000252508" "04214" "00334419" "00000" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000252613" "04214" "00334573" "00000" "Familial, autosomal dominant" "28y" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000252838" "00198" "00335123" "00000" "Unknown" "" "50y-diagnosis visual impairment" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000253374" "04214" "00335428" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000253563" "04214" "00335643" "00008" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (adRP)" "" "0000253994" "04214" "00358779" "00000" "Familial, autosomal dominant" "38y" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000254645" "04214" "00359374" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000258780" "04214" "00363419" "00000" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000263695" "04214" "00368357" "01695" "Unknown" "" "At the age of 19, the visual acuity was 0.1/0.1 (OD/OS). The fundus showed: attenuated retinal arteries; no foveal reflex;. ERG response of the rods was: not available and of the cones was not available." "13y" "" "poor vision" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000267908" "04214" "00372629" "00000" "Familial, autosomal dominant" "26y" "see paper; ..." "9y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000267925" "04214" "00372646" "00000" "Familial, autosomal dominant" "22y" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000267930" "04214" "00372651" "00000" "Familial, autosomal recessive" "15y" "see paper; ..." "5y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000267931" "04214" "00372652" "00000" "Familial, autosomal recessive" "43y" "see paper; ..." "33y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000267940" "04214" "00372661" "00000" "Familial, autosomal recessive" "46y" "see paper; ..." "40y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000267949" "04214" "00372670" "00000" "Familial, autosomal recessive" "29y" "see paper; ..." "15y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000267987" "04214" "00372708" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000268012" "04214" "00372733" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000268015" "04214" "00372736" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000268025" "04214" "00372746" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000268030" "04214" "00372751" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000268750" "04214" "00373474" "00000" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000268757" "04214" "00373481" "00000" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000269047" "04214" "00373838" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000269140" "04214" "00373931" "00000" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000270665" "04214" "00375451" "00000" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000271385" "04214" "00376175" "00000" "Di-genic" "" "" "" "" "" "" "" "" "" "" "" "multiplex renitis pigmentosa" "" "0000271975" "04214" "00376764" "00000" "Familial, autosomal recessive" "9y" "" "" "" "" "" "" "" "" "" "" "Usher syndrome type II" "" "0000271979" "04214" "00376768" "00000" "Familial, autosomal recessive" "37y" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000271981" "04214" "00376770" "00000" "Familial, autosomal recessive" "11y" "" "" "" "" "" "" "" "" "" "" "Peripheral dystrophy" "" "0000271983" "04214" "00376772" "00000" "Familial, autosomal dominant" "29y" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000272361" "04214" "00377203" "00000" "Familial, autosomal dominant" "6y" "see paper" "5y" "6y" "" "" "" "" "" "" "" "retinal disease" "" "0000272372" "04214" "00377214" "00000" "Familial, autosomal dominant" "14y" "see paper" "10y" "12y" "" "" "" "" "" "" "retinitis pigmentosa, type 10 (RP10)" "retinal disease" "" "0000272432" "04214" "00377274" "00000" "Familial, autosomal dominant" "36y" "see paper" "6y" "8y" "" "" "" "" "" "" "retinitis pigmentosa, type 10 (RP10)" "retinal disease" "" "0000272526" "04214" "00377376" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "RP10" "retinitis pigmentosa" "" "0000272527" "04214" "00377377" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "RP10" "retinitis pigmentosa" "" "0000272528" "04214" "00377378" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "RP10" "retinitis pigmentosa" "" "0000272529" "04214" "00377379" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "RP10" "retinitis pigmentosa" "" "0000272530" "04214" "00377380" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "RP10" "retinitis pigmentosa" "" "0000272531" "04214" "00377381" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "RP10" "retinitis pigmentosa" "" "0000272680" "04214" "00377530" "00000" "Isolated (sporadic)" "" "see paper" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "retinal disease" "" "0000273509" "00112" "00379665" "03508" "Familial, autosomal dominant" "" "HP:0032037,\tHP:0000662,\tHP:0000613,\tHP:0001133,\tHP:0000006,\tHP:0000510" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa (RP)" "" "0000273696" "04214" "00379842" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000273697" "04214" "00379843" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000274887" "04214" "00381036" "00000" "Familial, autosomal dominant" "<1y" "poor vision, nystagmus" "23y" "" "" "" "" "" "" "" "" "Leber congenital amaurosis (LCA)" "" "0000275600" "04214" "00381758" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa" "" "0000276168" "04214" "00382319" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000276169" "04214" "00382320" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000276214" "04214" "00382365" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000276401" "04214" "00382552" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000276402" "04214" "00382553" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000277215" "04214" "00383430" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Rod-cone dystrophy" "" "0000278168" "04214" "00384383" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000278204" "04214" "00384419" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Strabismus" "" "0000278819" "04214" "00385035" "00000" "Familial, autosomal dominant" "19y" "nyctalopia, no nystagmus, no oculodigital sign, ERG extinguished, best corrected visual acuity right/left eye: 0.1/0.07" "1y" "" "" "" "" "" "" "" "Leber congenital amaurosis" "Leber congenital amaurosis" "" "0000279998" "04214" "00386195" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000280015" "04214" "00386212" "00000" "Familial, autosomal recessive" "53y" "" "" "6y" "" "" "" "" "" "" "achromatopsia" "" "" "0000280102" "04214" "00386299" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" "" "0000280348" "04214" "00386548" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000280560" "04214" "00386760" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000280944" "04214" "00387381" "00000" "Familial, autosomal dominant" "23y" "no lens opacity, no choroidal atrophy, negative family history, BCVA OD/OS: FC/FC, retinal detachment" "6y" "" "" "" "" "" "" "" "Retinitis pigmentosa" "Retinitis pigmentosa" "" "0000282106" "04214" "00388566" "00000" "Isolated (sporadic)" "" "Non‐syndrom" "" "4y" "" "" "" "" "" "" "Retinitis pigmentosa type 10" "Retinitis pigmentosa" "" "0000282810" "04214" "00389269" "00000" "Familial, autosomal dominant" "75y" "age at genetic diagnosis mentioned" "" "69y" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa" "" "" "0000282811" "04214" "00389270" "00000" "Familial, autosomal dominant" "54y" "age at genetic diagnosis mentioned" "" "47y" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa" "" "" "0000283015" "04214" "00389474" "00000" "Familial, autosomal dominant" "35y" "age at genetic diagnosis mentioned" "" "27y" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa" "" "" "0000283024" "04214" "00389483" "00000" "Familial, autosomal dominant" "59y" "age at genetic diagnosis mentioned" "" "53y" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa" "" "" "0000283169" "04214" "00389628" "00000" "Isolated (sporadic)" "46y" "age at genetic diagnosis mentioned" "" "41y" "" "" "" "" "" "" "sporadic retinitis pigmentosa" "" "" "0000283569" "04214" "00390029" "00000" "Unknown" "" "Very pale optic disk, chorioretinal atrophy in macular area, highly altered fundus" "" "" "" "" "" "" "" "" "Retinal dystrophy" "" "" "0000285606" "04214" "00392330" "00000" "Familial, autosomal dominant" "57y" "best corrected visual acuity right/left eye: 0.1/light perception, electroretinograhy responses: not available" "<5y" "" "" "" "" "" "" "" "Retinitis pigmentosa, autosomal dominant" "Retinitis pigmentosa, autosomal dominant" "" "0000285638" "04214" "00392362" "00000" "Familial, autosomal dominant" "18y" "best corrected visual acuity right/left eye: 0.1/0.07, electroretinograhy responses: extinguished" "9y" "" "" "" "" "" "" "" "Retinitis pigmentosa, autosomal dominant" "Retinitis pigmentosa, autosomal dominant" "" "0000285912" "04214" "00392665" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "retinitis pigmentosa" "" "0000285913" "04214" "00392666" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "retinitis pigmentosa" "" "0000286746" "04214" "00393540" "00000" "Isolated (sporadic)" "45y" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa (RP)" "" "0000286818" "04214" "00393612" "00000" "Familial, autosomal dominant" "6y" "" "" "" "" "" "" "" "" "" "" "Leber Congenital Amaurosis (LCA)" "" "0000286968" "04214" "00393762" "00000" "Familial, autosomal dominant" "45y" "" "" "" "" "" "" "" "" "" "" "Cone-rod Dystrophy (CORD)" "" "0000287102" "04214" "00393896" "00000" "Familial, autosomal dominant" "35y" "" "" "" "" "" "" "" "" "" "" "Macular Degeneration (MD)" "" "0000287682" "04214" "00394479" "00000" "Familial, autosomal dominant" "63y" "" "32y" "" "" "" "" "" "" "" "" "Nonsyndromic retinitis pigmentosa" "" "0000289127" "04214" "00395965" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "sector retinitis pigmentosa" "" "" "0000289128" "04214" "00395966" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "sector retinitis pigmentosa" "" "" "0000289129" "04214" "00395967" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "sector retinitis pigmentosa" "" "" "0000299598" "04214" "00407244" "00000" "Familial, autosomal dominant" "" "severe constriction of visual field, optic disc pallor, bone spicule pattern pigmentary deposits and retinal vascular attenuation, diminished or extinguished cone and rod electroretinogram" "" "" "nyctalopia (night blindness)" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (adRP)" "" "0000299599" "04214" "00407245" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (adRP)" "" "0000299600" "04214" "00407246" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (adRP)" "" "0000299601" "04214" "00407247" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (adRP)" "" "0000299602" "04214" "00407248" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "severe autosomal dominant retinitis pigmentosa (adRP)" "" "0000299603" "04214" "00407249" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "severe autosomal dominant retinitis pigmentosa (adRP)" "" "0000299604" "04214" "00407250" "00000" "Familial, autosomal dominant" "81y" "" "<10y" "" "" "" "" "" "" "" "" "severe autosomal dominant retinitis pigmentosa (adRP)" "" "0000299605" "04214" "00407251" "00000" "Familial, autosomal dominant" "72y" "" "<10y" "" "Nystagmus" "" "" "" "" "" "" "severe autosomal dominant retinitis pigmentosa (adRP)" "" "0000299606" "04214" "00407252" "00000" "Familial, autosomal dominant" "65y" "" "<10y" "" "Nystagmus, keratoconus" "" "" "" "" "" "" "severe autosomal dominant retinitis pigmentosa (adRP)" "" "0000299607" "04214" "00407253" "00000" "Familial, autosomal dominant" "33y" "" "4y" "" "Nystagmus, keratoconus" "" "" "" "" "" "" "severe autosomal dominant retinitis pigmentosa (adRP)" "" "0000299608" "04214" "00407254" "00000" "Familial, autosomal dominant" "31y" "" "<10y" "" "Disc Drusen" "" "" "" "" "" "" "severe autosomal dominant retinitis pigmentosa (adRP)" "" "0000299609" "04214" "00407255" "00000" "Familial, autosomal dominant" "29y" "" "<10y" "" "Disc Drusen" "" "" "" "" "" "" "severe autosomal dominant retinitis pigmentosa (adRP)" "" "0000299610" "04214" "00407256" "00000" "Familial, autosomal dominant" "40y" "" "<10y" "" "intraretinal and vitreous hemorrhage" "" "" "" "" "" "" "severe autosomal dominant retinitis pigmentosa (adRP)" "" "0000299611" "04214" "00407257" "00000" "Familial, autosomal dominant" "36y" "" "<10y" "" "Nystagmus" "" "" "" "" "" "" "severe autosomal dominant retinitis pigmentosa (adRP)" "" "0000299612" "04214" "00407258" "00000" "Familial, autosomal dominant" "38y" "" "<10y" "" "Nystagmus" "" "" "" "" "" "" "severe autosomal dominant retinitis pigmentosa (adRP)" "" "0000299613" "04214" "00407259" "00000" "Familial, autosomal dominant" "22y" "" "<10y" "" "" "" "" "" "" "" "" "severe autosomal dominant retinitis pigmentosa (adRP)" "" "0000299614" "04214" "00407260" "00000" "Familial, autosomal dominant" "19y" "" "<10y" "" "" "" "" "" "" "" "" "severe autosomal dominant retinitis pigmentosa (adRP)" "" "0000299615" "04214" "00407261" "00000" "Familial, autosomal dominant" "9y" "" "2y" "" "" "" "" "" "" "" "" "severe autosomal dominant retinitis pigmentosa (adRP)" "" "0000299616" "04214" "00407262" "00000" "Familial, autosomal dominant" "7y" "" "<10y" "" "Nystagmus" "" "" "" "" "" "" "severe autosomal dominant retinitis pigmentosa (adRP)" "" "0000299617" "04214" "00407263" "00000" "Familial, autosomal dominant" "5y" "" "2y" "" "" "" "" "" "" "" "" "severe autosomal dominant retinitis pigmentosa (adRP)" "" "0000299618" "04214" "00407264" "00000" "Familial, autosomal dominant" "16y" "" "2y" "" "Nystagmus" "" "" "" "" "" "" "severe autosomal dominant retinitis pigmentosa (adRP)" "" "0000299619" "04214" "00407265" "00000" "Familial, autosomal dominant" "4y" "" "2y" "" "Disc Drusen" "" "" "" "" "" "" "severe autosomal dominant retinitis pigmentosa (adRP)" "" "0000299620" "04214" "00407266" "00000" "Familial, autosomal dominant" "7y" "" "6y" "" "field loss" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (adRP)" "" "0000299621" "04214" "00407267" "00000" "Familial, autosomal dominant" "8y" "" "" "" "" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (adRP)" "" "0000299622" "04214" "00407268" "00000" "Familial, autosomal dominant" "9y" "bone-spicule pigment +/+" "3y" "" "Night Blindness" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (adRP)" "" "0000299623" "04214" "00407269" "00000" "Familial, autosomal dominant" "11y" "" "" "" "" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (adRP)" "" "0000299624" "04214" "00407270" "00000" "Familial, autosomal dominant" "12y" "" "" "" "" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (adRP)" "" "0000299625" "04214" "00407271" "00000" "Familial, autosomal dominant" "16y" "bone-spicule pigment +/+" "10y" "" "field loss" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (adRP)" "" "0000299626" "04214" "00407272" "00000" "Familial, autosomal dominant" "17y" "" "30y" "" "field loss" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (adRP)" "" "0000299627" "04214" "00407273" "00000" "Familial, autosomal dominant" "19y" "bone-spicule pigment +/+" "" "" "" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (adRP)" "" "0000299628" "04214" "00407274" "00000" "Familial, autosomal dominant" "20y" "" "" "" "" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (adRP)" "" "0000299629" "04214" "00407275" "00000" "Familial, autosomal dominant" "21y" "" "" "" "" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (adRP)" "" "0000299630" "04214" "00407276" "00000" "Familial, autosomal dominant" "25y" "field loss at 18y, bone-spicule pigment +/+" "14y" "" "night blindness" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (adRP)" "" "0000299631" "04214" "00407277" "00000" "Familial, autosomal dominant" "25y" "bone-spicule pigment +/+" "12y" "" "night blindness, field loss" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (adRP)" "" "0000299632" "04214" "00407278" "00000" "Familial, autosomal dominant" "26y" "bone-spicule pigment +/+" "" "" "" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (adRP)" "" "0000299633" "04214" "00407279" "00000" "Familial, autosomal dominant" "29y" "bone-spicule pigment +/+" "6y" "" "field loss" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (adRP)" "" "0000299634" "04214" "00407280" "00000" "Familial, autosomal dominant" "31y" "bone-spicule pigment +/+" "22y" "" "Night Blindness" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (adRP)" "" "0000299636" "04214" "00407282" "00000" "Familial, autosomal dominant" "34y" "bone-spicule pigment +/+" "15y" "" "field loss" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (adRP)" "" "0000299637" "04214" "00407283" "00000" "Familial, autosomal dominant" "36y" "bone-spicule pigment +/+" "20y" "" "field loss" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (adRP)" "" "0000299638" "04214" "00407284" "00000" "Familial, autosomal dominant" "36y" "bone-spicule pigment +/+" "28y" "" "Night Blindness, field loss" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (adRP)" "" "0000299639" "04214" "00407285" "00000" "Familial, autosomal dominant" "37y" "bone-spicule pigment +/+" "24y" "" "night blindness, field loss" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (adRP)" "" "0000299640" "04214" "00407286" "00000" "Familial, autosomal dominant" "41y" "" "" "" "" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (adRP)" "" "0000299641" "04214" "00407287" "00000" "Familial, autosomal dominant" "42y" "field loss at 20y" "4y" "" "Night Blindness" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (adRP)" "" "0000299642" "04214" "00407288" "00000" "Familial, autosomal dominant" "54y" "bone-spicule pigment +/+" "15y" "" "night blindness, field loss" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (adRP)" "" "0000299643" "04214" "00407289" "00000" "Familial, autosomal dominant" "57y" "Night Blindness at 55y, bone-spicule pigment +/+" "40y" "" "field loss" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (adRP)" "" "0000299644" "04214" "00407290" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (adRP)" "" "0000299645" "04214" "00407291" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (adRP)" "" "0000299646" "04214" "00407292" "00000" "Familial, autosomal dominant" "" "" "" "" "early onset and severe retinal degeneration" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (adRP)" "" "0000299647" "04214" "00407293" "00000" "Familial, autosomal dominant" "60y" "VAOD: LP - VAOS: 20/63, Glaucoma" "20y-29y" "" "late onset night blindness" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (adRP)" "" "0000299648" "04214" "00407294" "00000" "Familial, autosomal dominant" "51y" "VAOD: 20/63 - VAOS: 20/80, CME OD" "" "" "childhood night blindness" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (adRP)" "" "0000299649" "04214" "00407295" "00000" "Familial, autosomal dominant" "49y" "VAOD: 20/25 - VAOS: 20/25" "" "" "early childhood night blindness" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (adRP)" "" "0000299650" "04214" "00407296" "00000" "Familial, autosomal dominant" "43y" "VAOD: 20/80 - VAOS: 20/80, CME OU" "" "" "childhood night blindness" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (adRP)" "" "0000299651" "04214" "00407297" "00000" "Familial, autosomal dominant" "26y" "VAOD: 20/32 - VAOS: 20/32" "" "" "childhood night blindness" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (adRP)" "" "0000299652" "04214" "00407298" "00000" "Familial, autosomal dominant" "22y" "VAOD: 20/25 - VAOS: 20/25" "" "" "childhood night blindness" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (adRP)" "" "0000299653" "04214" "00407299" "00000" "Familial, autosomal dominant" "20y" "VAOD: 20/63 - VAOS: 20/125, CMEOD, amblyopia OS" "" "" "early childhood night blindness" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (adRP)" "" "0000299654" "04214" "00407300" "00000" "Familial, autosomal dominant" "19y" "VAOD: 20/32 - VAOS: 20/32, Coatdisease" "" "" "early childhood night blindness" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (adRP)" "" "0000299655" "04214" "00407301" "00000" "Familial, autosomal dominant" "16y" "VAOD: 20/32 - VAOS: 20/40" "" "" "early childhood night blindness" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (adRP)" "" "0000299656" "04214" "00407302" "00000" "Familial, autosomal dominant" "13y" "VAOD: 20/32 - VAOS: 20/32" "" "" "early childhood night blindness" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (adRP)" "" "0000299657" "04214" "00407303" "00000" "Familial, autosomal dominant" "13y" "VAOD: 20/100 - VAOS: 20/100, CME OU" "" "" "childhood night blindness" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (adRP)" "" "0000299658" "04214" "00407304" "00000" "Familial, autosomal dominant" "62y" "BCVA: 20/30; OCT thickness fovea: 215;" "" "" "" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (adRP)" "" "0000299659" "04214" "00407305" "00000" "Familial, autosomal dominant" "45y" "BCVA: 20/30; OCT thickness fovea: 207; 30-Hz flicker amplitude: 1.4" "" "" "" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (adRP)" "" "0000299660" "04214" "00407306" "00000" "Familial, autosomal dominant" "42y" "BCVA: 20/30; OCT thickness fovea: 240; 30-Hz flicker amplitude: 5.1" "" "" "" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (adRP)" "" "0000299661" "04214" "00407307" "00000" "Familial, autosomal dominant" "19y" "BCVA: 20/40; OCT thickness fovea: 282; 30-Hz flicker amplitude: 3.8" "" "" "" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (adRP)" "" "0000299662" "04214" "00407308" "00000" "Familial, autosomal dominant" "17y" "BCVA: 20/20; OCT thickness fovea: 265; 30-Hz flicker amplitude: 7.3" "" "" "" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (adRP)" "" "0000299663" "04214" "00407309" "00000" "Familial, autosomal dominant" "15y" "BCVA: 20/40; OCT thickness fovea: 299; 30-Hz flicker amplitude: 9" "" "" "" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (adRP)" "" "0000299664" "04214" "00407310" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (adRP)" "" "0000299665" "04214" "00407311" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (adRP)" "" "0000299666" "04214" "00407312" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (adRP)" "" "0000299667" "04214" "00407313" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (adRP)" "" "0000299668" "04214" "00407314" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (adRP)" "" "0000299669" "04214" "00407315" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (adRP)" "" "0000299670" "04214" "00407316" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (adRP)" "" "0000299671" "04214" "00407317" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (adRP)" "" "0000299672" "04214" "00407318" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "leber congenital amaurosis (LCA)" "" "0000299673" "04214" "00407319" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "leber congenital amaurosis (LCA)" "" "0000299674" "04214" "00407320" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (adRP)" "" "0000299709" "04214" "00407355" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "severe autosomal dominant retinitis pigmentosa (adRP)" "" "0000300954" "04214" "00408834" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (adRP)" "" "0000300957" "04214" "00408837" "00000" "Familial, autosomal recessive" "" "bone spicule-like pigmentation in midperiphery of the retina, attenuated retinal arteriole, severe maculopathy, and disc pallor" "" "" "night blindness in early years" "" "" "" "" "" "" "autosomal recessive retinitis pigmentosa (arRP)" "" "0000300958" "04214" "00408839" "00000" "Familial, autosomal dominant" "11y" "" "" "" "" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (adRP)" "" "0000300959" "04214" "00408840" "00000" "Familial, autosomal dominant" "14y" "" "" "" "" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (adRP)" "" "0000300960" "04214" "00408841" "00000" "Familial, autosomal dominant" "14y" "" "" "" "" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (adRP)" "" "0000300961" "04214" "00408842" "00000" "Familial, autosomal dominant" "37y" "" "" "" "" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (adRP)" "" "0000300962" "04214" "00408843" "00000" "Familial, autosomal dominant" "55y" "" "" "" "" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (adRP)" "" "0000300963" "04214" "00408844" "00000" "Isolated (sporadic)" "19y" "" "" "" "" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (adRP)" "" "0000300964" "04214" "00408845" "00000" "Familial, autosomal dominant" "31y" "" "" "" "" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (adRP)" "" "0000300965" "04214" "00408846" "00000" "Familial, autosomal dominant" "22y" "" "" "" "" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (adRP)" "" "0000300966" "04214" "00408847" "00000" "Familial, autosomal dominant" "49y" "" "" "" "" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (adRP)" "" "0000300967" "04214" "00408848" "00000" "Familial, autosomal dominant" "43y" "" "" "" "" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (adRP)" "" "0000300968" "04214" "00408849" "00000" "Familial, autosomal dominant" "34y" "" "" "" "" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (adRP)" "" "0000300969" "04214" "00408850" "00000" "Familial, autosomal dominant" "58y" "" "" "" "" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (adRP)" "" "0000306186" "00198" "00414351" "00000" "Familial, autosomal dominant" "37y" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa 10" "" "" "0000306187" "00198" "00414352" "00000" "Familial, autosomal dominant" "31y" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa 10" "" "" "0000318080" "04214" "00426942" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "rod-cone dystrophy" "rod-cone dystrophy" "" ## Screenings ## Do not remove or alter this header ## ## Count = 208 "{{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" "" "" "0000033224" "00033156" "1" "00229" "00229" "2012-02-04 14:28:42" "00006" "2012-05-18 13:59:33" "SEQ;SEQ-NG-S" "DNA" "" "" "0000050526" "00050581" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000096324" "00095921" "1" "01769" "01769" "2017-01-25 18:49:09" "" "" "SEQ" "DNA" "WBC" "" "0000208642" "00207605" "1" "01244" "01244" "2018-11-26 15:47:18" "" "" "SEQ-NG-I" "DNA" "Peripheral blood" "" "0000233949" "00232850" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233950" "00232851" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233951" "00232852" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233952" "00232853" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233953" "00232854" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233954" "00232855" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233955" "00232856" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233956" "00232857" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233957" "00232858" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233958" "00232859" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233959" "00232860" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233960" "00232861" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233961" "00232862" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233962" "00232863" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233963" "00232864" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233964" "00232865" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233965" "00232866" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000300751" "00299641" "1" "00006" "00006" "2020-04-18 08:53:03" "00006" "2020-04-18 09:16:58" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WGS" "0000309658" "00308513" "1" "00004" "00006" "2020-08-27 13:01:07" "" "" "SEQ" "DNA" "" "" "0000309659" "00308514" "1" "00004" "00006" "2020-08-27 13:01:07" "" "" "SEQ" "DNA" "" "" "0000309660" "00308515" "1" "00004" "00006" "2020-08-27 13:01:07" "" "" "SEQ" "DNA" "" "" "0000310340" "00309195" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000327898" "00326685" "1" "00008" "00008" "2021-01-14 12:28:06" "" "" "DHPLC" "DNA" "blood" "" "0000333267" "00332048" "1" "00000" "00006" "2021-02-14 10:12:05" "" "" "SEQ-NG" "DNA" "" "" "0000334570" "00333345" "1" "00000" "00006" "2021-02-24 19:32:43" "" "" "SEQ-NG" "DNA" "" "233-gene panel" "0000334629" "00333404" "1" "00000" "00006" "2021-02-25 11:52:36" "" "" "SEQ;SEQ-NG" "DNA" "" "184-gene panel" "0000334630" "00333405" "1" "00000" "00006" "2021-02-25 11:52:36" "" "" "SEQ;SEQ-NG" "DNA" "" "184-gene panel" "0000335198" "00333972" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" "" "0000335199" "00333973" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" "" "0000335648" "00334419" "1" "00000" "00006" "2021-02-28 16:11:14" "" "" "SEQ-NG" "DNA" "" "WES" "0000335802" "00334573" "1" "00000" "00006" "2021-03-01 15:50:09" "" "" "SEQ-NG" "DNA" "" "105-gene panel" "0000336352" "00335123" "1" "00000" "00006" "2021-03-04 11:06:46" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000336657" "00335428" "1" "00000" "00006" "2021-03-05 16:19:42" "" "" "SEQ-NG" "DNA" "" "283-gene panel" "0000336871" "00335643" "1" "00008" "00008" "2021-03-07 20:43:50" "" "" "SEQ" "DNA" "" "" "0000360009" "00358779" "1" "00000" "00006" "2021-03-12 09:26:03" "" "" "SEQ-NG" "DNA" "" "226-gene panel" "0000360616" "00359374" "1" "00000" "00006" "2021-03-19 18:50:51" "" "" "SEQ-NG" "DNA" "" "64-gene panel" "0000364647" "00363419" "1" "00000" "00006" "2021-04-27 10:42:53" "" "" "SEQ" "DNA" "" "gene panel" "0000369585" "00368357" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000373861" "00372629" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000373878" "00372646" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000373883" "00372651" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000373884" "00372652" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000373893" "00372661" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000373902" "00372670" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000373940" "00372708" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000373965" "00372733" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000373968" "00372736" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000373978" "00372746" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000373983" "00372751" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000374709" "00373474" "1" "00000" "00006" "2021-05-14 16:56:19" "" "" "SEQ-NG" "DNA" "" "73-gene panel" "0000374716" "00373481" "1" "00000" "00006" "2021-05-14 16:56:19" "" "" "SEQ-NG" "DNA" "" "73-gene panel" "0000375070" "00373838" "1" "00000" "00006" "2021-05-21 13:56:05" "" "" "SEQ-NG" "DNA" "" "86-gene panel" "0000375163" "00373931" "1" "00000" "00006" "2021-05-21 15:01:30" "" "" "SEQ-NG" "DNA" "" "238-gene panel" "0000376648" "00375451" "1" "00000" "00006" "2021-06-04 11:36:57" "" "" "SEQ-NG" "DNA" "" "179-gene panel" "0000377371" "00376175" "1" "00000" "00008" "2021-06-19 02:19:40" "" "" "DHPLC" "DNA" "blood" "" "0000377970" "00376764" "1" "00000" "00006" "2021-06-25 14:31:53" "" "" "SEQ-NG" "DNA" "" "66-gene panel" "0000377974" "00376768" "1" "00000" "00006" "2021-06-25 14:31:53" "" "" "SEQ-NG" "DNA" "" "66-gene panel" "0000377976" "00376770" "1" "00000" "00006" "2021-06-25 14:31:53" "" "" "SEQ-NG" "DNA" "" "66-gene panel" "0000377978" "00376772" "1" "00000" "00006" "2021-06-25 14:31:53" "" "" "SEQ-NG" "DNA" "" "66-gene panel" "0000378408" "00377203" "1" "00000" "03840" "2021-07-16 14:18:12" "00006" "2021-08-06 16:49:30" "SEQ-NG-I;SEQ" "DNA" "blood" "targeted resequencing using MIPs library prep; 108-gene panel" "0000378419" "00377214" "1" "00000" "03840" "2021-07-16 14:18:12" "00006" "2021-08-06 16:49:30" "SEQ-NG-I;SEQ" "DNA" "blood" "targeted resequencing using MIPs library prep; 108-gene panel" "0000378479" "00377274" "1" "00000" "03840" "2021-07-16 14:18:12" "00006" "2021-08-06 16:49:30" "SEQ-NG-I;SEQ" "DNA" "blood" "targeted resequencing using MIPs library prep; 108-gene panel" "0000378579" "00377376" "1" "00000" "03840" "2021-07-22 14:34:00" "" "" "?" "DNA" "" "various screening techniques within publication, not mentioned which particular individual had which techniques: SSCA, DGGE, arraySNP, SEQ-NG, WES" "0000378580" "00377377" "1" "00000" "03840" "2021-07-22 14:34:00" "" "" "?" "DNA" "" "various screening techniques within publication, not mentioned which particular individual had which techniques: SSCA, DGGE, arraySNP, SEQ-NG, WES" "0000378581" "00377378" "1" "00000" "03840" "2021-07-22 14:34:00" "" "" "?" "DNA" "" "various screening techniques within publication, not mentioned which particular individual had which techniques: SSCA, DGGE, arraySNP, SEQ-NG, WES" "0000378582" "00377379" "1" "00000" "03840" "2021-07-22 14:34:00" "" "" "?" "DNA" "" "various screening techniques within publication, not mentioned which particular individual had which techniques: SSCA, DGGE, arraySNP, SEQ-NG, WES" "0000378583" "00377380" "1" "00000" "03840" "2021-07-22 14:34:00" "" "" "?" "DNA" "" "various screening techniques within publication, not mentioned which particular individual had which techniques: SSCA, DGGE, arraySNP, SEQ-NG, WES" "0000378584" "00377381" "1" "00000" "03840" "2021-07-22 14:34:00" "" "" "?" "DNA" "" "various screening techniques within publication, not mentioned which particular individual had which techniques: SSCA, DGGE, arraySNP, SEQ-NG, WES" "0000378733" "00377530" "1" "00000" "03840" "2021-07-22 15:35:32" "00006" "2021-08-06 16:49:30" "SEQ-NG;SEQ" "DNA" "blood" "Targeted next-generation sequencing" "0000380865" "00379665" "1" "03508" "03508" "2021-08-06 08:29:05" "" "" "SEQ-NG-I" "DNA" "" "" "0000381044" "00379842" "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" "0000381045" "00379843" "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" "0000382250" "00381036" "1" "00000" "00008" "2021-08-25 12:56:54" "" "" "SEQ" "DNA" "blood" "" "0000382974" "00381758" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "SEQ;PCR" "DNA" "blood" "" "0000383533" "00382319" "1" "00000" "03840" "2021-09-09 12:39:39" "" "" "SEQ-NG-I" "DNA" "blood" "125 genes associated with inherited retinal disorders, see paper supplemental data" "0000383534" "00382320" "1" "00000" "03840" "2021-09-09 12:39:39" "" "" "SEQ-NG-I" "DNA" "blood" "125 genes associated with inherited retinal disorders, see paper supplemental data" "0000383579" "00382365" "1" "00000" "03840" "2021-09-09 12:39:39" "" "" "SEQ-NG-I" "DNA" "blood" "125 genes associated with inherited retinal disorders, see paper supplemental data" "0000383766" "00382552" "1" "00000" "03840" "2021-09-09 12:39:39" "" "" "SEQ-NG-I" "DNA" "blood" "125 genes associated with inherited retinal disorders, see paper supplemental data" "0000383767" "00382553" "1" "00000" "03840" "2021-09-09 12:39:39" "" "" "SEQ-NG-I" "DNA" "blood" "125 genes associated with inherited retinal disorders, see paper supplemental data" "0000384655" "00383430" "1" "00000" "03840" "2021-09-29 09:58:40" "" "" "?" "DNA" "" "retrospective study" "0000385608" "00384383" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes" "0000385644" "00384419" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes" "0000386264" "00385035" "1" "00000" "03840" "2021-10-06 17:52:46" "" "" "SEQ-NG" "DNA" "" "" "0000387424" "00386195" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000387441" "00386212" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000387528" "00386299" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000387776" "00386548" "1" "00000" "03840" "2021-10-26 11:33:19" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "" "0000387988" "00386760" "1" "00000" "03840" "2021-10-26 11:33:19" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "" "0000388607" "00387381" "1" "00000" "03840" "2021-10-29 09:42:54" "" "" "SEQ-NG" "DNA" "blood" "targeted NGS with molecular inversion probes: coding exons of 27 genes associated with Joubert syndrome" "0000389808" "00388566" "1" "00000" "03840" "2021-11-04 19:02:37" "" "" "SEQ-NG-I;SEQ" "DNA" "blood;saliva" "targeted sequencing with 1 of 4 panels of OFTALMOgenics probes" "0000390512" "00389269" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ" "DNA" "blood" "Sanger sequencing" "0000390513" "00389270" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET3 targeted sequencing panel - see paper" "0000390717" "00389474" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET2 targeted sequencing panel - see paper" "0000390726" "00389483" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET4 targeted sequencing panel - see paper" "0000390871" "00389628" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET5 targeted sequencing panel - see paper" "0000391270" "00390029" "1" "00000" "03840" "2021-11-08 12:01:50" "" "" "arrayCGH" "DNA" "" "targeted sequencing with 1 of 4 panels of OFTALMOgenics probes" "0000393572" "00392330" "1" "00000" "03840" "2021-11-22 16:18:49" "" "" "SEQ-NG" "DNA" "blood" "gene panel testing" "0000393604" "00392362" "1" "00000" "03840" "2021-11-22 16:18:49" "" "" "SEQ-NG" "DNA" "blood" "gene panel testing" "0000393912" "00392665" "1" "00000" "03840" "2021-11-23 15:06:01" "" "" "SEQ-NG-I;SEQ" "DNA" "" "whole exome sequencing" "0000393913" "00392666" "1" "00000" "03840" "2021-11-23 15:06:01" "" "" "SEQ-NG-I;SEQ" "DNA" "" "whole exome sequencing" "0000394788" "00393540" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG" "DNA" "" "hereditary eye disease enrichment panel (HEDEP)" "0000394860" "00393612" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG" "DNA" "" "hereditary eye disease enrichment panel (HEDEP)" "0000395010" "00393762" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG" "DNA" "" "hereditary eye disease enrichment panel (HEDEP)" "0000395144" "00393896" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG" "DNA" "" "hereditary eye disease enrichment panel (HEDEP)" "0000395726" "00394479" "1" "00000" "00008" "2021-12-02 08:42:19" "" "" "SEQ" "DNA" "" "" "0000397204" "00395965" "1" "00000" "03840" "2021-12-09 15:06:13" "" "" "SEQ-NG" "DNA" "blood" "retrospective study" "0000397205" "00395966" "1" "00000" "03840" "2021-12-09 15:06:13" "" "" "SEQ-NG" "DNA" "blood" "retrospective study" "0000397206" "00395967" "1" "00000" "03840" "2021-12-09 15:06:13" "" "" "SEQ-NG" "DNA" "blood" "retrospective study" "0000408492" "00407244" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SEQ;PCR" "DNA" "blood" "" "0000408493" "00407245" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SSCA;SEQ" "DNA" "blood or bucal swabs" "" "0000408494" "00407246" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SSCA;SEQ" "DNA" "blood or bucal swabs" "" "0000408495" "00407247" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SSCA;SEQ" "DNA" "blood or bucal swabs" "" "0000408496" "00407248" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SSCA;SEQ" "DNA" "blood or bucal swabs" "" "0000408497" "00407249" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SSCA;SEQ" "DNA" "blood or bucal swabs" "" "0000408498" "00407250" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SSCA;SEQ" "DNA" "" "" "0000408499" "00407251" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SSCA;SEQ" "DNA" "" "" "0000408500" "00407252" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SSCA;SEQ" "DNA" "" "" "0000408501" "00407253" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SSCA;SEQ" "DNA" "" "" "0000408502" "00407254" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SSCA;SEQ" "DNA" "" "" "0000408503" "00407255" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SSCA;SEQ" "DNA" "" "" "0000408504" "00407256" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SSCA;SEQ" "DNA" "" "" "0000408505" "00407257" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SSCA;SEQ" "DNA" "" "" "0000408506" "00407258" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SSCA;SEQ" "DNA" "" "" "0000408507" "00407259" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SSCA;SEQ" "DNA" "" "" "0000408508" "00407260" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SSCA;SEQ" "DNA" "" "" "0000408509" "00407261" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SSCA;SEQ" "DNA" "" "" "0000408510" "00407262" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SSCA;SEQ" "DNA" "" "" "0000408511" "00407263" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SSCA;SEQ" "DNA" "" "" "0000408512" "00407264" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SSCA;SEQ" "DNA" "" "" "0000408513" "00407265" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SSCA;SEQ" "DNA" "" "" "0000408514" "00407266" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SEQ" "DNA" "" "" "0000408515" "00407267" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SEQ" "DNA" "" "" "0000408516" "00407268" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SEQ" "DNA" "" "" "0000408517" "00407269" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SEQ" "DNA" "" "" "0000408518" "00407270" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SEQ" "DNA" "" "" "0000408519" "00407271" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SEQ" "DNA" "" "" "0000408520" "00407272" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SEQ" "DNA" "" "" "0000408521" "00407273" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SEQ" "DNA" "" "" "0000408522" "00407274" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SEQ" "DNA" "" "" "0000408523" "00407275" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SEQ" "DNA" "" "" "0000408524" "00407276" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SEQ" "DNA" "" "" "0000408525" "00407277" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SEQ" "DNA" "" "" "0000408526" "00407278" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SEQ" "DNA" "" "" "0000408527" "00407279" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SEQ" "DNA" "" "" "0000408528" "00407280" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SEQ" "DNA" "" "" "0000408530" "00407282" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SEQ" "DNA" "" "" "0000408531" "00407283" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SEQ" "DNA" "" "" "0000408532" "00407284" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SEQ" "DNA" "" "" "0000408533" "00407285" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SEQ" "DNA" "" "" "0000408534" "00407286" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SEQ" "DNA" "" "" "0000408535" "00407287" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SEQ" "DNA" "" "" "0000408536" "00407288" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SEQ" "DNA" "" "" "0000408537" "00407289" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SEQ" "DNA" "" "" "0000408538" "00407290" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SEQ" "DNA" "" "" "0000408539" "00407291" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SEQ" "DNA" "" "" "0000408540" "00407292" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SEQ" "DNA" "blood" "" "0000408541" "00407293" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SEQ" "DNA" "blood" "" "0000408542" "00407294" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SEQ" "DNA" "blood" "" "0000408543" "00407295" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SEQ" "DNA" "blood" "" "0000408544" "00407296" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SEQ" "DNA" "blood" "" "0000408545" "00407297" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SEQ" "DNA" "blood" "" "0000408546" "00407298" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SEQ" "DNA" "blood" "" "0000408547" "00407299" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SEQ" "DNA" "blood" "" "0000408548" "00407300" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SEQ" "DNA" "blood" "" "0000408549" "00407301" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SEQ" "DNA" "blood" "" "0000408550" "00407302" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SEQ" "DNA" "blood" "" "0000408551" "00407303" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SEQ" "DNA" "blood" "" "0000408552" "00407304" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SEQ" "DNA" "blood" "" "0000408553" "00407305" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SEQ" "DNA" "blood" "" "0000408554" "00407306" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SEQ" "DNA" "blood" "" "0000408555" "00407307" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SEQ" "DNA" "blood" "" "0000408556" "00407308" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SEQ" "DNA" "blood" "" "0000408557" "00407309" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SEQ" "DNA" "blood" "" "0000408558" "00407310" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SEQ" "DNA" "blood" "" "0000408559" "00407311" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SEQ" "DNA" "blood" "" "0000408560" "00407312" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SEQ" "DNA" "blood" "" "0000408561" "00407313" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SEQ" "DNA" "blood" "" "0000408562" "00407314" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SEQ" "DNA" "blood" "" "0000408563" "00407315" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SEQ" "DNA" "blood" "" "0000408564" "00407316" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SEQ" "DNA" "blood" "" "0000408565" "00407317" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SEQ" "DNA" "blood" "" "0000408566" "00407318" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SEQ" "DNA" "blood" "" "0000408567" "00407319" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SEQ" "DNA" "blood" "" "0000408568" "00407320" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SEQ" "DNA" "blood" "" "0000408603" "00407355" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SEQ-NG;SEQ" "DNA" "blood" "" "0000410099" "00408834" "1" "00000" "00008" "2022-04-29 01:04:01" "" "" "SEQ;PCR" "DNA" "leukocytes" "" "0000410102" "00408837" "1" "00000" "00008" "2022-04-29 01:04:01" "" "" "SEQ" "DNA" "blood" "genome-wide linkage scan" "0000410103" "00408838" "1" "00000" "00008" "2022-04-29 01:04:01" "" "" "SEQ" "DNA" "blood" "genome-wide linkage scan" "0000410104" "00408839" "1" "00000" "00008" "2022-04-29 01:04:01" "" "" "?" "DNA" "" "" "0000410105" "00408840" "1" "00000" "00008" "2022-04-29 01:04:01" "" "" "?" "DNA" "" "" "0000410106" "00408841" "1" "00000" "00008" "2022-04-29 01:04:01" "" "" "?" "DNA" "" "" "0000410107" "00408842" "1" "00000" "00008" "2022-04-29 01:04:01" "" "" "?" "DNA" "" "" "0000410108" "00408843" "1" "00000" "00008" "2022-04-29 01:04:01" "" "" "?" "DNA" "" "" "0000410109" "00408844" "1" "00000" "00008" "2022-04-29 01:04:01" "" "" "?" "DNA" "" "" "0000410110" "00408845" "1" "00000" "00008" "2022-04-29 01:04:01" "" "" "?" "DNA" "" "" "0000410111" "00408846" "1" "00000" "00008" "2022-04-29 01:04:01" "" "" "?" "DNA" "" "" "0000410112" "00408847" "1" "00000" "00008" "2022-04-29 01:04:01" "" "" "?" "DNA" "" "" "0000410113" "00408848" "1" "00000" "00008" "2022-04-29 01:04:01" "" "" "?" "DNA" "" "" "0000410114" "00408849" "1" "00000" "00008" "2022-04-29 01:04:01" "" "" "?" "DNA" "" "" "0000410115" "00408850" "1" "00000" "00008" "2022-04-29 01:04:01" "" "" "?" "DNA" "" "" "0000415631" "00414351" "1" "00000" "03840" "2022-07-28 13:16:36" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000415632" "00414352" "1" "00000" "03840" "2022-07-28 13:16:36" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000428262" "00426942" "1" "00000" "03840" "2022-12-03 18:53:15" "" "" "SEQ-NG;SEQ" "DNA" "saliva" "panel-based next generation sequencing" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 188 "{{screeningid}}" "{{geneid}}" "0000033224" "ARL6" "0000033224" "IMPDH1" "0000033224" "RPGRIP1" "0000096324" "IMPDH1" "0000233949" "IMPDH1" "0000233950" "IMPDH1" "0000233951" "IMPDH1" "0000233952" "IMPDH1" "0000233953" "IMPDH1" "0000233954" "IMPDH1" "0000233955" "IMPDH1" "0000233956" "IMPDH1" "0000233957" "IMPDH1" "0000233958" "IMPDH1" "0000233959" "IMPDH1" "0000233960" "IMPDH1" "0000233961" "IMPDH1" "0000233962" "IMPDH1" "0000233963" "IMPDH1" "0000233964" "IMPDH1" "0000233965" "IMPDH1" "0000300751" "ARHGEF18" "0000309658" "IMPDH1" "0000309659" "IMPDH1" "0000309660" "IMPDH1" "0000310340" "IMPDH1" "0000327898" "IMPDH1" "0000333267" "IMPDH1" "0000334570" "IMPDH1" "0000334629" "IMPDH1" "0000334630" "IMPDH1" "0000335198" "IMPDH1" "0000335199" "IMPDH1" "0000335648" "IMPDH1" "0000335802" "IMPDH1" "0000336352" "IMPDH1" "0000336657" "IMPDH1" "0000336871" "IMPDH1" "0000360009" "IMPDH1" "0000364647" "IMPDH1" "0000369585" "ABCA4" "0000374709" "IMPDH1" "0000374716" "IMPDH1" "0000375070" "IMPDH1" "0000375163" "IMPDH1" "0000376648" "IMPDH1" "0000377371" "IMPDH1" "0000378408" "IMPDH1" "0000378419" "IMPDH1" "0000378479" "IMPDH1" "0000378579" "IMPDH1" "0000378580" "IMPDH1" "0000378581" "IMPDH1" "0000378582" "IMPDH1" "0000378583" "IMPDH1" "0000378584" "IMPDH1" "0000381044" "IMPDH1" "0000381045" "IMPDH1" "0000382250" "IMPDH1" "0000382974" "IMPDH1" "0000383533" "IMPDH1" "0000383534" "IMPDH1" "0000383579" "PRPF31" "0000383766" "IMPDH1" "0000383767" "PDE6B" "0000384655" "IMPDH1" "0000385608" "IMPDH1" "0000385644" "IMPDH1" "0000386264" "IMPDH1" "0000387424" "GNAT2" "0000387441" "CNGB3" "0000387528" "CNNM4" "0000387776" "IMPDH1" "0000387988" "IMPDH1" "0000389808" "IMPDH1" "0000390512" "IMPDH1" "0000390513" "IMPDH1" "0000390717" "IMPDH1" "0000390726" "IMPDH1" "0000390871" "IMPDH1" "0000391270" "NMNAT1" "0000393572" "IMPDH1" "0000393604" "IMPDH1" "0000393912" "IMPDH1" "0000393913" "IMPDH1" "0000394788" "IMPDH1" "0000394860" "IMPDH1" "0000395010" "IMPDH1" "0000395144" "IMPDH1" "0000395726" "IMPDH1" "0000397204" "IMPDH1" "0000397205" "IMPDH1" "0000397206" "IMPDH1" "0000408492" "IMPDH1" "0000408493" "IMPDH1" "0000408494" "IMPDH1" "0000408495" "IMPDH1" "0000408496" "IMPDH1" "0000408497" "IMPDH1" "0000408498" "IMPDH1" "0000408499" "IMPDH1" "0000408500" "IMPDH1" "0000408501" "IMPDH1" "0000408502" "IMPDH1" "0000408503" "IMPDH1" "0000408504" "IMPDH1" "0000408505" "IMPDH1" "0000408506" "IMPDH1" "0000408507" "IMPDH1" "0000408508" "IMPDH1" "0000408509" "IMPDH1" "0000408510" "IMPDH1" "0000408511" "IMPDH1" "0000408512" "IMPDH1" "0000408513" "IMPDH1" "0000408514" "IMPDH1" "0000408515" "IMPDH1" "0000408516" "IMPDH1" "0000408517" "IMPDH1" "0000408518" "IMPDH1" "0000408519" "IMPDH1" "0000408520" "IMPDH1" "0000408521" "IMPDH1" "0000408522" "IMPDH1" "0000408523" "IMPDH1" "0000408524" "IMPDH1" "0000408525" "IMPDH1" "0000408526" "IMPDH1" "0000408527" "IMPDH1" "0000408528" "IMPDH1" "0000408530" "IMPDH1" "0000408531" "IMPDH1" "0000408532" "IMPDH1" "0000408533" "IMPDH1" "0000408534" "IMPDH1" "0000408535" "IMPDH1" "0000408536" "IMPDH1" "0000408537" "IMPDH1" "0000408538" "IMPDH1" "0000408539" "IMPDH1" "0000408540" "IMPDH1" "0000408541" "IMPDH1" "0000408542" "IMPDH1" "0000408543" "IMPDH1" "0000408544" "IMPDH1" "0000408545" "IMPDH1" "0000408546" "IMPDH1" "0000408547" "IMPDH1" "0000408548" "IMPDH1" "0000408549" "IMPDH1" "0000408550" "IMPDH1" "0000408551" "IMPDH1" "0000408552" "IMPDH1" "0000408553" "IMPDH1" "0000408554" "IMPDH1" "0000408555" "IMPDH1" "0000408556" "IMPDH1" "0000408557" "IMPDH1" "0000408558" "IMPDH1" "0000408559" "IMPDH1" "0000408560" "IMPDH1" "0000408561" "IMPDH1" "0000408562" "IMPDH1" "0000408563" "IMPDH1" "0000408564" "IMPDH1" "0000408565" "IMPDH1" "0000408566" "IMPDH1" "0000408567" "IMPDH1" "0000408568" "IMPDH1" "0000408603" "NES" "0000410099" "IMPDH1" "0000410102" "IMPDH1" "0000410103" "IMPDH1" "0000410104" "IMPDH1" "0000410105" "IMPDH1" "0000410106" "IMPDH1" "0000410107" "IMPDH1" "0000410108" "IMPDH1" "0000410109" "IMPDH1" "0000410110" "IMPDH1" "0000410111" "IMPDH1" "0000410112" "IMPDH1" "0000410113" "IMPDH1" "0000410114" "IMPDH1" "0000410115" "IMPDH1" "0000415631" "IMPDH1" "0000415632" "IMPDH1" "0000428262" "IMPDH1" ## 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 = 268 "{{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}}" "0000004543" "0" "50" "7" "128034629" "128034629" "subst" "0.271514" "00037" "IMPDH1_000002" "g.128034629C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.128394575C>T" "" "VUS" "" "0000059939" "1" "70" "7" "128038512" "128038512" "subst" "0.000150639" "00229" "IMPDH1_000001" "g.128038512G>A" "" "{PMID:Neveling 2012:22334370}" "" "" "predicted to affect function, but insufficient evidence for definite conclusion, disease-related variant in other gene" "Germline" "no" "" "0" "" "" "g.128398458G>A" "" "likely pathogenic" "" "0000079506" "0" "90" "7" "121000064" "135573959" "del" "0" "00006" "IMPDH1_000003" "g.121000064_135573959del" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "decreased gene dosage" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000158317" "3" "90" "7" "128038611" "128038611" "subst" "0.00000406527" "01769" "IMPDH1_000004" "g.128038611C>T" "" "{PMID:Li 2017:28418496}" "" "" "" "Germline" "yes" "" "0" "" "" "g.128398557C>T" "" "pathogenic" "" "0000253537" "0" "10" "7" "128040928" "128040928" "subst" "0" "01943" "IMPDH1_000018" "g.128040928A>G" "" "" "" "IMPDH1(NM_000883.3):c.522T>C (p.G174=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128400874A>G" "" "benign" "" "0000278008" "0" "30" "7" "128037009" "128037009" "subst" "0.00214931" "02330" "IMPDH1_000012" "g.128037009T>C" "" "" "" "IMPDH1(NM_000883.3):c.1142A>G (p.H381R), IMPDH1(NM_000883.4):c.1142A>G (p.H381R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128396955T>C" "" "likely benign" "" "0000278009" "0" "30" "7" "128035036" "128035038" "del" "0" "02330" "IMPDH1_000009" "g.128035036_128035038del" "" "" "" "IMPDH1(NM_000883.3):c.1460_1462delTCT (p.F487del), IMPDH1(NM_000883.4):c.1460_1462delTCT (p.F487del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128394982_128394984del" "" "likely benign" "" "0000278010" "0" "50" "7" "128034562" "128034562" "subst" "0.00000406213" "02330" "IMPDH1_000007" "g.128034562C>T" "" "" "" "IMPDH1(NM_000883.4):c.1642G>A (p.G548S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128394508C>T" "" "VUS" "" "0000278011" "0" "10" "7" "128034536" "128034536" "subst" "0.000337193" "02330" "IMPDH1_000006" "g.128034536G>A" "" "" "" "IMPDH1(NM_000883.3):c.1668C>T (p.I556=), IMPDH1(NM_000883.4):c.1668C>T (p.I556=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128394482G>A" "" "benign" "" "0000278012" "0" "30" "7" "128034396" "128034396" "subst" "0.000219312" "02330" "IMPDH1_000005" "g.128034396C>G" "" "" "" "IMPDH1(NM_000883.3):c.1714G>C (p.E572Q), IMPDH1(NM_000883.4):c.1714G>C (p.E572Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128394342C>G" "" "likely benign" "" "0000278013" "0" "10" "7" "128041129" "128041129" "subst" "0.0000365687" "02330" "IMPDH1_000019" "g.128041129C>A" "" "" "" "IMPDH1(NM_000883.4):c.444G>T (p.T148=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128401075C>A" "" "benign" "" "0000278014" "0" "10" "7" "128038612" "128038612" "subst" "0.000508114" "02330" "IMPDH1_000015" "g.128038612G>A" "" "" "" "IMPDH1(NM_000883.3):c.930C>T (p.T310=), IMPDH1(NM_000883.4):c.930C>T (p.T310=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128398558G>A" "" "benign" "" "0000281537" "0" "10" "7" "128038555" "128038555" "subst" "0.157848" "02325" "IMPDH1_000014" "g.128038555C>G" "" "" "" "IMPDH1(NM_000883.4):c.987G>C (p.L329=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128398501C>G" "" "benign" "" "0000289612" "0" "50" "7" "128037043" "128037043" "subst" "0.0018924" "01943" "IMPDH1_000013" "g.128037043C>T" "" "" "" "IMPDH1(NM_000883.3):c.1108G>A (p.A370T), IMPDH1(NM_000883.4):c.1108G>A (p.A370T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128396989C>T" "" "VUS" "" "0000289613" "0" "30" "7" "128037009" "128037009" "subst" "0.00214931" "01943" "IMPDH1_000012" "g.128037009T>C" "" "" "" "IMPDH1(NM_000883.3):c.1142A>G (p.H381R), IMPDH1(NM_000883.4):c.1142A>G (p.H381R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128396955T>C" "" "likely benign" "" "0000289614" "0" "30" "7" "128036742" "128036742" "subst" "0.000206987" "01943" "IMPDH1_000011" "g.128036742T>C" "" "" "" "IMPDH1(NM_000883.3):c.1173A>G (p.T391=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128396688T>C" "" "likely benign" "" "0000289615" "0" "50" "7" "128035331" "128035331" "subst" "0.00000408807" "01943" "IMPDH1_000010" "g.128035331G>A" "" "" "" "IMPDH1(NM_000883.3):c.1262-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128395277G>A" "" "VUS" "" "0000289616" "0" "50" "7" "128049922" "128049922" "subst" "0" "01943" "IMPDH1_000020" "g.128049922C>G" "" "" "" "IMPDH1(NM_000883.3):c.34G>C (p.G12R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128409868C>G" "" "VUS" "" "0000289617" "0" "30" "7" "128040598" "128040598" "subst" "0.0000211563" "01943" "IMPDH1_000017" "g.128040598G>A" "" "" "" "IMPDH1(NM_000883.3):c.580-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128400544G>A" "" "likely benign" "" "0000289618" "0" "30" "7" "128040404" "128040404" "subst" "0.000639486" "01943" "IMPDH1_000016" "g.128040404T>C" "" "" "" "IMPDH1(NM_000883.3):c.769A>G (p.T257A), IMPDH1(NM_000883.4):c.769A>G (p.T257A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128400350T>C" "" "likely benign" "" "0000289619" "0" "30" "7" "128038612" "128038612" "subst" "0.000508114" "01943" "IMPDH1_000015" "g.128038612G>A" "" "" "" "IMPDH1(NM_000883.3):c.930C>T (p.T310=), IMPDH1(NM_000883.4):c.930C>T (p.T310=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128398558G>A" "" "likely benign" "" "0000331855" "0" "50" "7" "128034632" "128034632" "subst" "0.00006099" "01804" "IMPDH1_000008" "g.128034632G>C" "" "" "" "IMPDH1(NM_000883.3):c.1572C>G (p.(Ile524Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128394578G>C" "" "VUS" "" "0000342154" "0" "50" "7" "128040882" "128040882" "subst" "0.000657836" "02327" "IMPDH1_000022" "g.128040882G>A" "" "" "" "IMPDH1(NM_000883.3):c.568C>T (p.R190W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128400828G>A" "" "VUS" "" "0000342690" "0" "50" "7" "128038512" "128038512" "subst" "0.000150639" "02327" "IMPDH1_000001" "g.128038512G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128398458G>A" "" "VUS" "" "0000344052" "0" "90" "7" "128038611" "128038611" "subst" "0.00000406527" "02327" "IMPDH1_000004" "g.128038611C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128398557C>T" "" "pathogenic" "" "0000344069" "0" "30" "7" "128038482" "128038482" "subst" "0.0000204633" "02327" "IMPDH1_000021" "g.128038482C>T" "" "" "" "IMPDH1(NM_000883.3):c.1060G>A (p.D354N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128398428C>T" "" "likely benign" "" "0000438564" "0" "90" "7" "128038574" "128038574" "subst" "0" "01244" "IMPDH1_000023" "g.128038574T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.128398520T>C" "" "pathogenic" "" "0000476657" "0" "50" "7" "128035004" "128035004" "subst" "0.000296895" "02591" "IMPDH1_000024" "g.128035004G>A" "2/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs72624967" "0" "" "" "g.128394950G>A" "" "VUS" "" "0000476658" "0" "50" "7" "128035019" "128035019" "subst" "0.0000162606" "02591" "IMPDH1_000025" "g.128035019G>A" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs777576501" "0" "" "" "g.128394965G>A" "" "VUS" "" "0000476659" "0" "50" "7" "128035060" "128035060" "subst" "0.00000406246" "02591" "IMPDH1_000026" "g.128035060G>C" "2/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs564132747" "0" "" "" "g.128395006G>C" "" "VUS" "" "0000476660" "0" "50" "7" "128035291" "128035291" "subst" "0" "02591" "IMPDH1_000027" "g.128035291G>T" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.128395237G>T" "" "VUS" "" "0000476661" "0" "50" "7" "128035296" "128035297" "del" "0" "02591" "IMPDH1_000038" "g.128035296_128035297del" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.128395242_128395243del" "" "VUS" "" "0000476662" "0" "50" "7" "128036740" "128036740" "subst" "0" "02591" "IMPDH1_000028" "g.128036740G>A" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.128396686G>A" "" "VUS" "" "0000476663" "0" "90" "7" "128038575" "128038575" "subst" "0" "02591" "IMPDH1_000029" "g.128038575T>C" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.128398521T>C" "" "pathogenic" "" "0000476664" "0" "90" "7" "128038611" "128038611" "subst" "0.00000406527" "02591" "IMPDH1_000004" "g.128038611C>T" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs121912550" "0" "" "" "g.128398557C>T" "" "pathogenic" "" "0000476665" "0" "50" "7" "128038617" "128038617" "subst" "0" "02591" "IMPDH1_000030" "g.128038617G>C" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.128398563G>C" "" "VUS" "" "0000476666" "0" "50" "7" "128040155" "128040155" "subst" "0" "02591" "IMPDH1_000031" "g.128040155T>C" "2/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.128400101T>C" "" "VUS" "" "0000476667" "0" "50" "7" "128040175" "128040175" "subst" "0" "02591" "IMPDH1_000032" "g.128040175T>C" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.128400121T>C" "" "VUS" "" "0000476668" "0" "50" "7" "128040224" "128040224" "subst" "0.0000446835" "02591" "IMPDH1_000033" "g.128040224T>C" "2/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs751763023" "0" "" "" "g.128400170T>C" "" "VUS" "" "0000476669" "0" "50" "7" "128040383" "128040383" "subst" "0.00000410028" "02591" "IMPDH1_000034" "g.128040383G>C" "5/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs770587552" "0" "" "" "g.128400329G>C" "" "VUS" "" "0000476670" "0" "50" "7" "128040514" "128040514" "subst" "0" "02591" "IMPDH1_000035" "g.128040514A>T" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.128400460A>T" "" "VUS" "" "0000476671" "0" "50" "7" "128040882" "128040882" "subst" "0.000657836" "02591" "IMPDH1_000022" "g.128040882G>A" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs121912553" "0" "" "" "g.128400828G>A" "" "VUS" "" "0000476672" "0" "50" "7" "128041175" "128041175" "subst" "0" "02591" "IMPDH1_000036" "g.128041175G>T" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.128401121G>T" "" "VUS" "" "0000476673" "0" "90" "7" "128049404" "128049404" "del" "0" "02591" "IMPDH1_000037" "g.128049404del" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.128409350del" "" "pathogenic" "" "0000530616" "0" "30" "7" "128034606" "128034606" "subst" "0.00075579" "02330" "IMPDH1_000039" "g.128034606T>C" "" "" "" "IMPDH1(NM_000883.3):c.1598A>G (p.Q533R), IMPDH1(NM_000883.4):c.1598A>G (p.Q533R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128394552T>C" "" "likely benign" "" "0000530617" "0" "50" "7" "128034606" "128034606" "subst" "0.00075579" "01943" "IMPDH1_000039" "g.128034606T>C" "" "" "" "IMPDH1(NM_000883.3):c.1598A>G (p.Q533R), IMPDH1(NM_000883.4):c.1598A>G (p.Q533R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128394552T>C" "" "VUS" "" "0000530618" "0" "10" "7" "128034957" "128034957" "subst" "0.000826776" "02330" "IMPDH1_000040" "g.128034957C>T" "" "" "" "IMPDH1(NM_000883.3):c.1536G>A (p.Q512=), IMPDH1(NM_000883.4):c.1536G>A (p.Q512=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128394903C>T" "" "benign" "" "0000530619" "0" "30" "7" "128034957" "128034957" "subst" "0.000826776" "01943" "IMPDH1_000040" "g.128034957C>T" "" "" "" "IMPDH1(NM_000883.3):c.1536G>A (p.Q512=), IMPDH1(NM_000883.4):c.1536G>A (p.Q512=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128394903C>T" "" "likely benign" "" "0000530620" "0" "50" "7" "128035268" "128035268" "subst" "0" "02330" "IMPDH1_000041" "g.128035268C>T" "" "" "" "IMPDH1(NM_000883.4):c.1322G>A (p.R441H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128395214C>T" "" "VUS" "" "0000530621" "0" "30" "7" "128037043" "128037043" "subst" "0.0018924" "02330" "IMPDH1_000013" "g.128037043C>T" "" "" "" "IMPDH1(NM_000883.3):c.1108G>A (p.A370T), IMPDH1(NM_000883.4):c.1108G>A (p.A370T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128396989C>T" "" "likely benign" "" "0000530622" "0" "50" "7" "128038482" "128038482" "subst" "0.0000204633" "01943" "IMPDH1_000021" "g.128038482C>T" "" "" "" "IMPDH1(NM_000883.3):c.1060G>A (p.D354N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128398428C>T" "" "VUS" "" "0000530623" "0" "10" "7" "128038654" "128038654" "subst" "0.000215703" "02330" "IMPDH1_000042" "g.128038654G>A" "" "" "" "IMPDH1(NM_000883.4):c.888C>T (p.I296=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128398600G>A" "" "benign" "" "0000530624" "0" "50" "7" "128041112" "128041112" "subst" "0" "02330" "IMPDH1_000043" "g.128041112G>A" "" "" "" "IMPDH1(NM_000883.4):c.461C>T (p.P154L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128401058G>A" "" "VUS" "" "0000530625" "0" "10" "7" "128045814" "128045814" "subst" "0.000401185" "02330" "IMPDH1_000044" "g.128045814C>G" "" "" "" "IMPDH1(NM_000883.4):c.353+7G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128405760C>G" "" "benign" "" "0000530626" "0" "10" "7" "128049326" "128049326" "subst" "0.0000784255" "02330" "IMPDH1_000045" "g.128049326G>A" "" "" "" "IMPDH1(NM_000883.4):c.254+17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128409272G>A" "" "benign" "" "0000610659" "0" "30" "7" "128034948" "128034948" "subst" "0.000492936" "02330" "IMPDH1_000046" "g.128034948G>A" "" "" "" "IMPDH1(NM_000883.3):c.1545C>T (p.Y515=), IMPDH1(NM_000883.4):c.1545C>T (p.Y515=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128394894G>A" "" "likely benign" "" "0000610660" "0" "30" "7" "128034948" "128034948" "subst" "0.000492936" "01943" "IMPDH1_000046" "g.128034948G>A" "" "" "" "IMPDH1(NM_000883.3):c.1545C>T (p.Y515=), IMPDH1(NM_000883.4):c.1545C>T (p.Y515=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128394894G>A" "" "likely benign" "" "0000610661" "0" "30" "7" "128035222" "128035222" "subst" "0" "02330" "IMPDH1_000047" "g.128035222T>G" "" "" "" "IMPDH1(NM_000883.4):c.1368A>C (p.G456=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128395168T>G" "" "likely benign" "" "0000610662" "0" "30" "7" "128040404" "128040404" "subst" "0.000639486" "02330" "IMPDH1_000016" "g.128040404T>C" "" "" "" "IMPDH1(NM_000883.3):c.769A>G (p.T257A), IMPDH1(NM_000883.4):c.769A>G (p.T257A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128400350T>C" "" "likely benign" "" "0000610663" "0" "30" "7" "128045813" "128045813" "subst" "0.000108008" "02330" "IMPDH1_000048" "g.128045813G>T" "" "" "" "IMPDH1(NM_000883.4):c.353+8C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128405759G>T" "" "likely benign" "" "0000655733" "0" "30" "7" "128034396" "128034396" "subst" "0.000219312" "01943" "IMPDH1_000005" "g.128034396C>G" "" "" "" "IMPDH1(NM_000883.3):c.1714G>C (p.E572Q), IMPDH1(NM_000883.4):c.1714G>C (p.E572Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128394342C>G" "" "likely benign" "" "0000655734" "0" "50" "7" "128034535" "128034535" "subst" "0" "01943" "IMPDH1_000049" "g.128034535C>T" "" "" "" "IMPDH1(NM_000883.3):c.1669G>A (p.G557R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128394481C>T" "" "VUS" "" "0000655735" "0" "70" "7" "128038574" "128038574" "subst" "0" "02330" "IMPDH1_000023" "g.128038574T>C" "" "" "" "IMPDH1(NM_000883.4):c.968A>G (p.K323R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128398520T>C" "" "likely pathogenic" "" "0000663585" "1" "50" "7" "128037043" "128037043" "subst" "0.0018924" "00006" "IMPDH1_000013" "g.128037043C>T" "" "{PMID:Arno 2017:28132693}" "" "" "ExAC MAF too high for dominant disease allele" "Germline" "" "" "0" "" "" "g.128396989C>T" "" "VUS" "" "0000677949" "0" "50" "7" "128040533" "128040533" "subst" "0.00000818934" "02330" "IMPDH1_000050" "g.128040533C>T" "" "" "" "IMPDH1(NM_000883.4):c.640G>A (p.D214N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000684531" "1" "70" "7" "128040882" "128040882" "subst" "0.000657836" "00004" "IMPDH1_000022" "g.128040882G>A" "2/899 cases" "{PMID:Holtan 2020:31429209}" "" "NM_001142573.1:c.313C>T" "" "Germline" "" "" "0" "" "" "g.128400828G>A" "" "likely pathogenic" "" "0000684532" "1" "70" "7" "128038611" "128038611" "subst" "0.00000406527" "00004" "IMPDH1_000004" "g.128038611C>T" "1/899 cases" "{PMID:Holtan 2020:31429209}" "" "NM_001142573.1:c.676G>A" "" "Germline" "" "" "0" "" "" "g.128398557C>T" "" "likely pathogenic" "" "0000684533" "1" "70" "7" "128038598" "128038600" "del" "0" "00004" "IMPDH1_000052" "g.128038598_128038600del" "1/899 cases" "{PMID:Holtan 2020:31429209}" "" "" "" "Germline" "" "" "0" "" "" "g.128398544_128398546del" "" "likely pathogenic" "" "0000685251" "0" "70" "7" "128038583" "128038583" "subst" "0" "00004" "IMPDH1_000051" "g.128038583A>G" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "NM_183243.2:c.851T>C" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000689897" "0" "30" "7" "128034536" "128034536" "subst" "0.000337193" "01943" "IMPDH1_000006" "g.128034536G>A" "" "" "" "IMPDH1(NM_000883.3):c.1668C>T (p.I556=), IMPDH1(NM_000883.4):c.1668C>T (p.I556=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000711691" "1" "10" "7" "128037009" "128037009" "subst" "0.00214931" "00008" "IMPDH1_000012" "g.128037009T>C" "" "{PMID:Ziviello 2005:15994872}" "" "H381R" "" "Germline" "no" "" "0" "" "" "" "" "benign" "" "0000721220" "0" "50" "7" "128033072" "128033072" "subst" "0.0000285318" "01943" "IMPDH1_000053" "g.128033072G>A" "" "" "" "IMPDH1(NM_000883.3):c.1789C>T (p.R597W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721221" "0" "50" "7" "128036724" "128036724" "subst" "0" "02327" "IMPDH1_000054" "g.128036724G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721222" "0" "50" "7" "128040882" "128040882" "subst" "0.000657836" "01943" "IMPDH1_000022" "g.128040882G>A" "" "" "" "IMPDH1(NM_000883.3):c.568C>T (p.R190W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000730691" "1" "90" "7" "128049496" "128049496" "subst" "0.000548179" "00000" "IMPDH1_000055" "g.128049496T>C" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.128409442T>C" "" "pathogenic (dominant)" "" "0000732423" "1" "90" "7" "128038611" "128038611" "subst" "0.00000406527" "00000" "IMPDH1_000004" "g.128038611C>T" "" "{PMID:Villanueva 2018:28945494}" "" "NM_001142573.1:c.676G>A" "" "Germline" "yes" "rs121912550" "0" "" "" "g.128398557C>T" "" "pathogenic" "" "0000732561" "0" "50" "7" "128038611" "128038611" "subst" "0.00000406527" "00000" "IMPDH1_000004" "g.128038611C>T" "" "{PMID:Wang 2017:28838317}" "" "" "" "Germline" "" "" "0" "" "" "g.128398557C>T" "" "VUS" "" "0000732562" "0" "50" "7" "128038611" "128038611" "subst" "0.00000406527" "00000" "IMPDH1_000004" "g.128038611C>T" "" "{PMID:Wang 2017:28838317}" "" "" "" "Germline" "" "" "0" "" "" "g.128398557C>T" "" "VUS" "" "0000733207" "0" "70" "7" "128040581" "128040581" "subst" "0" "00000" "IMPDH1_000056" "g.128040581C>A" "" "{PMID:Stone 2017:28559085}" "" "" "" "De novo" "" "" "0" "" "" "g.128400527C>A" "" "likely pathogenic" "" "0000733208" "0" "70" "7" "128038574" "128038574" "subst" "0" "00000" "IMPDH1_000023" "g.128038574T>C" "" "{PMID:Stone 2017:28559085}" "" "" "" "De novo" "" "" "0" "" "" "g.128398520T>C" "" "likely pathogenic" "" "0000734342" "0" "70" "7" "128038611" "128038611" "subst" "0.00000406527" "00000" "IMPDH1_000004" "g.128038611C>T" "" "{PMID:Huang 2017:28512305}" "" "" "" "Unknown" "" "" "0" "" "" "g.128398557C>T" "" "likely pathogenic" "" "0000734708" "1" "90" "7" "128038574" "128038574" "subst" "0" "00000" "IMPDH1_000023" "g.128038574T>C" "" "{PMID:Vincent 2017:28488341}" "" "" "" "Germline" "" "" "0" "" "" "g.128398520T>C" "" "pathogenic" "" "0000735627" "0" "70" "7" "128035060" "128035060" "subst" "0" "00000" "IMPDH1_000057" "g.128035060G>A" "" "{PMID:Haer-Wigman 2017:28224992}" "" "" "" "Germline" "" "" "0" "" "" "g.128395006G>A" "" "likely pathogenic" "" "0000736102" "0" "70" "7" "128038611" "128038611" "subst" "0.00000406527" "00000" "IMPDH1_000004" "g.128038611C>T" "" "{PMID:Huang 2018:29641573}" "" "" "" "Germline" "" "" "0" "" "" "g.128398557C>T" "" "likely pathogenic" "" "0000736409" "1" "90" "7" "128040497" "128040497" "subst" "0" "00008" "IMPDH1_000058" "g.128040497C>T" "" "{PMID:Sullivan 2006:16799052}" "" "676G>A" "Affects CBS domain" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000759651" "0" "70" "7" "" "" "" "" "00000" "EZH2_000001" "g.?" "" "{PMID:Zhang 2016:27596865}" "" "NM_001142575 :c.612_614delTTC (p.K206del)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (dominant)" "ACMG" "0000760658" "1" "90" "7" "128043703" "128043703" "subst" "0" "00000" "IMPDH1_000059" "g.128043703C>T" "" "{PMID:Bravo-Gil 2016:27032803}" "" "" "" "Germline" "" "" "0" "" "" "g.128403649C>T" "" "pathogenic" "" "0000765522" "1" "70" "7" "" "" "" "" "00000" "EZH2_000001" "g.?" "1/60 cases" "{PMID:Coussa 2015:26720483}" "" "954G>C (Q318H)" "not in 192 controls" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (dominant)" "" "0000784158" "0" "50" "7" "128035176" "128035176" "subst" "0.00134074" "00000" "IMPDH1_000062" "g.128035176T>C" "8/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "rs11562030" "0" "" "" "g.128395122T>C" "" "VUS" "" "0000784191" "0" "90" "7" "128038611" "128038611" "subst" "0.00000406527" "00000" "IMPDH1_000004" "g.128038611C>T" "" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "" "0" "" "" "g.128398557C>T" "" "pathogenic (dominant)" "" "0000784421" "0" "50" "7" "128035176" "128035176" "subst" "0.00134074" "00000" "IMPDH1_000062" "g.128035176T>C" "8/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "rs11562030" "0" "" "" "g.128395122T>C" "" "VUS" "" "0000784433" "0" "50" "7" "128034955" "128034955" "subst" "0.000150669" "00000" "IMPDH1_000060" "g.128034955T>G" "1/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "" "0" "" "" "g.128394901T>G" "" "VUS" "" "0000784443" "0" "50" "7" "128035176" "128035176" "subst" "0.00134074" "00000" "IMPDH1_000062" "g.128035176T>C" "8/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "rs11562030" "0" "" "" "g.128395122T>C" "" "VUS" "" "0000784445" "0" "50" "7" "128035176" "128035176" "subst" "0.00134074" "00000" "IMPDH1_000062" "g.128035176T>C" "8/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "rs11562030" "0" "" "" "g.128395122T>C" "" "VUS" "" "0000784450" "0" "50" "7" "128035057" "128035057" "subst" "0.0000771849" "00000" "IMPDH1_000061" "g.128035057G>A" "1/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "rs201001000" "0" "" "" "g.128395003G>A" "" "VUS" "" "0000784454" "0" "50" "7" "128035176" "128035176" "subst" "0.00134074" "00000" "IMPDH1_000062" "g.128035176T>C" "8/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "rs11562030" "0" "" "" "g.128395122T>C" "" "VUS" "" "0000784530" "0" "50" "7" "128037043" "128037043" "subst" "0.0018924" "00000" "IMPDH1_000013" "g.128037043C>T" "1/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "rs72624961" "0" "" "" "g.128396989C>T" "" "VUS" "" "0000784534" "0" "50" "7" "128035176" "128035176" "subst" "0.00134074" "00000" "IMPDH1_000062" "g.128035176T>C" "8/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "rs11562030" "0" "" "" "g.128395122T>C" "" "VUS" "" "0000784553" "0" "50" "7" "128035176" "128035176" "subst" "0.00134074" "00000" "IMPDH1_000062" "g.128035176T>C" "8/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "rs11562030" "0" "" "" "g.128395122T>C" "" "VUS" "" "0000784554" "0" "50" "7" "128035176" "128035176" "subst" "0.00134074" "00000" "IMPDH1_000062" "g.128035176T>C" "8/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "rs11562030" "0" "" "" "g.128395122T>C" "" "VUS" "" "0000785532" "0" "90" "7" "128038580" "128038580" "subst" "0" "00000" "IMPDH1_000063" "g.128038580G>A" "" "{PMID:Fernandez-San Jose 2015:25698705}" "" "" "" "Germline" "" "" "0" "" "" "g.128398526G>A" "" "pathogenic (dominant)" "" "0000785539" "0" "50" "7" "128040577" "128040579" "del" "0" "00000" "IMPDH1_000064" "g.128040577_128040579del" "" "{PMID:Fernandez-San Jose 2015:25698705}" "" "c.595_597delTTC" "" "Germline" "" "" "0" "" "" "g.128400523_128400525del" "" "VUS" "" "0000786337" "1" "90" "7" "128038574" "128038574" "subst" "0" "00000" "IMPDH1_000023" "g.128038574T>C" "" "{PMID:Zhao 2015:25472526}" "" "" "" "Germline" "" "" "0" "" "" "g.128398520T>C" "" "pathogenic" "" "0000786458" "1" "90" "7" "128038580" "128038580" "subst" "0" "00000" "IMPDH1_000063" "g.128038580G>A" "" "{PMID:Consugar 2015:25412400}" "" "" "" "De novo" "yes" "" "0" "" "" "g.128398526G>A" "" "pathogenic (dominant)" "" "0000788541" "1" "70" "7" "128038611" "128038611" "subst" "0.00000406527" "00000" "IMPDH1_000004" "g.128038611C>T" "" "{PMID:Pan 2014:24940031}" "" "" "" "Germline" "" "" "0" "" "" "g.128398557C>T" "" "likely pathogenic" "" "0000789690" "0" "90" "7" "128038619" "128038619" "subst" "0" "00000" "IMPDH1_000051" "g.128038619C>T" "" "{PMID:Jin 2008:18310263}" "" "c.923G>A" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000790526" "0" "50" "7" "128034606" "128034606" "subst" "0.00075579" "00000" "IMPDH1_000039" "g.128034606T>C" "" "{PMID:Wang 2014:25097241}" "" "" "" "Germline" "" "rs144498273" "0" "" "" "g.128394552T>C" "" "VUS" "" "0000790549" "1" "50" "7" "128038485" "128038485" "subst" "0.0000449747" "00000" "IMPDH1_000066" "g.128038485C>T" "" "{PMID:Wang 2014:25097241}" "" "" "" "Germline" "" "" "0" "" "" "g.128398431C>T" "" "VUS" "" "0000790562" "0" "50" "7" "128038461" "128038462" "delins" "0" "00000" "IMPDH1_000065" "g.128038461_128038462delinsAA" "" "{PMID:Wang 2014:25097241}" "" "" "" "Germline" "" "rs61751224" "0" "" "" "g.128398407_128398408delinsAA" "" "VUS" "" "0000790571" "0" "50" "7" "128040881" "128040881" "subst" "0.0000162426" "00000" "IMPDH1_000067" "g.128040881C>A" "" "{PMID:Wang 2014:25097241}" "" "" "" "Germline" "" "" "0" "" "" "g.128400827C>A" "" "VUS" "" "0000791163" "0" "50" "7" "128038574" "128038574" "subst" "0" "00000" "IMPDH1_000023" "g.128038574T>C" "0 (in-house database, ~5000 samples)" "Tracewska 2021, MolVis in press" "" "" "" "Germline" "" "" "0" "" "" "g.128398520T>C" "" "VUS" "ACMG" "0000791174" "0" "70" "7" "128040214" "128040214" "subst" "0" "00000" "IMPDH1_000068" "g.128040214A>C" "0 (in-house database, ~5000 samples)" "Tracewska 2021, MolVis in press" "" "" "" "Germline" "" "" "0" "" "" "g.128400160A>C" "" "likely pathogenic" "ACMG" "0000791234" "11" "70" "7" "128040214" "128040214" "subst" "0" "00000" "IMPDH1_000068" "g.128040214A>C" "0 (in-house database, ~5000 samples)" "Tracewska 2021, MolVis in press" "" "" "" "Germline" "yes" "" "0" "" "" "g.128400160A>C" "" "likely pathogenic" "ACMG" "0000791428" "0" "70" "7" "128040588" "128040588" "subst" "0" "00000" "IMPDH1_000071" "g.128040588A>C" "1/258" "{PMID:Martin-Merida 2018:29847639}" "" "" "" "Germline" "?" "" "0" "" "" "g.128400534A>C" "" "likely pathogenic" "" "0000791429" "0" "70" "7" "128040214" "128040214" "subst" "0" "00000" "IMPDH1_000068" "g.128040214A>C" "1/258" "{PMID:Martin-Merida 2018:29847639}" "" "" "" "Germline" "?" "" "0" "" "" "g.128400160A>C" "" "likely pathogenic" "" "0000791430" "0" "70" "7" "128038616" "128038616" "subst" "0" "00000" "IMPDH1_000069" "g.128038616C>G" "2/258" "{PMID:Martin-Merida 2018:29847639}" "" "" "" "Germline" "?" "" "0" "" "" "g.128398562C>G" "" "likely pathogenic" "" "0000791431" "0" "70" "7" "128038616" "128038616" "subst" "0" "00000" "IMPDH1_000069" "g.128038616C>G" "2/258" "{PMID:Martin-Merida 2018:29847639}" "" "" "" "Germline" "?" "" "0" "" "" "g.128398562C>G" "" "likely pathogenic" "" "0000791432" "0" "70" "7" "128038611" "128038611" "subst" "0.00000406527" "00000" "IMPDH1_000004" "g.128038611C>T" "1/258" "{PMID:Martin-Merida 2018:29847639}" "" "" "" "Germline" "?" "" "0" "" "" "g.128398557C>T" "" "likely pathogenic" "" "0000791433" "0" "70" "7" "128038580" "128038580" "subst" "0" "00000" "IMPDH1_000063" "g.128038580G>A" "1/258" "{PMID:Martin-Merida 2018:29847639}" "" "" "" "Germline" "?" "" "0" "" "" "g.128398526G>A" "" "likely pathogenic" "" "0000791586" "0" "70" "7" "128040583" "128040583" "subst" "0" "00000" "IMPDH1_000070" "g.128040583T>G" "" "{PMID:Hosono2018:29844330}" "" "c.590A>C" "heterozygous, causative variant" "Germline" "no" "" "0" "" "" "g.128400529T>G" "" "likely pathogenic" "ACMG" "0000794087" "0" "70" "7" "128049540" "128049540" "subst" "0" "03508" "IMPDH1_000072" "g.128049540T>C" "" "" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "VUS" "ACMG" "0000794330" "0" "90" "7" "128038611" "128038611" "subst" "0.00000406527" "00000" "IMPDH1_000004" "g.128038611C>T" "" "{PMID:Wang 2018:30029497}" "" "NM_000883.3:c.931G>A, NP_000874.2:p.(Asp311Asn), NC_000007.13:g.128038611C>T" "" "Germline" "?" "" "0" "" "" "g.128398557C>T" "" "pathogenic" "ACMG" "0000794331" "0" "70" "7" "128038558" "128038558" "subst" "0" "00000" "IMPDH1_000073" "g.128038558C>G" "" "{PMID:Wang 2018:30029497}" "" "NM_000883.3:c.984G>C, NP_000874.2:p.(Gln328His), NC_000007.13:g.128038558C>G" "" "Germline" "?" "" "0" "" "" "g.128398504C>G" "" "likely pathogenic" "ACMG" "0000795976" "0" "70" "7" "128040581" "128040581" "subst" "0" "00000" "IMPDH1_000056" "g.128040581C>A" "0/384 controls" "{PMID:Chen-2013:23661368}" "" "c.[592G>T];[=]" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000796952" "0" "70" "7" "128038611" "128038611" "subst" "0.00000406527" "00000" "IMPDH1_000004" "g.128038611C>T" "" "{PMID:Sullivan-2013:23950152}" "" "c.931G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000797687" "3" "70" "7" "128043759" "128043759" "subst" "0" "00000" "IMPDH1_000076" "g.128043759C>A" "" "{PMID:Jespersgaar 2019:30718709}" "" "IMPDH1 c.402+1G>T, p.(?), c.402+1G>T, p.(?)" "homozygous" "Germline" "?" "" "0" "" "" "g.128403705C>A" "" "likely pathogenic" "ACMG" "0000797688" "0" "70" "7" "128038580" "128038580" "subst" "0" "00000" "IMPDH1_000063" "g.128038580G>A" "" "{PMID:Jespersgaar 2019:30718709}" "" "IMPDH1 c.962C>T, p.(Ala321Val)" "" "Germline" "?" "" "0" "" "" "g.128398526G>A" "" "likely pathogenic" "ACMG" "0000797754" "0" "70" "7" "" "" "" "" "00000" "EZH2_000001" "g.?" "" "{PMID:Jespersgaar 2019:30718709}" "" "PRPF31 c.(?_-1) _(238+1_239-1)del, IMPDH1 c.(?_-1) _(*1_?)del" "" "Germline" "?" "" "0" "" "" "g.?" "" "likely pathogenic" "ACMG" "0000798016" "0" "50" "7" "128034606" "128034606" "subst" "0.00075579" "00000" "IMPDH1_000039" "g.128034606T>C" "" "{PMID:Jespersgaar 2019:30718709}" "" "IMPDH1 c.1598A>G, p.(Gln533Arg)" "" "Germline" "?" "" "0" "" "" "g.128394552T>C" "" "VUS" "ACMG" "0000798018" "0" "50" "7" "128038564" "128038564" "subst" "0" "00000" "IMPDH1_000075" "g.128038564C>G" "" "{PMID:Jespersgaar 2019:30718709}" "" "IMPDH1 c.978G>C, p.(Gln326His),, pDE6B c.1401+5G>A, p.(?)" "" "Germline" "?" "" "0" "" "" "g.128398510C>G" "" "VUS" "ACMG" "0000802892" "0" "50" "7" "128040190" "128040190" "subst" "0.000117865" "01943" "IMPDH1_000077" "g.128040190G>A" "" "" "" "IMPDH1(NM_000883.3):c.833C>T (p.T278M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000811416" "3" "70" "7" "128038600" "128038600" "subst" "0" "00000" "IMPDH1_000079" "g.128038600C>A" "" "{PMID:Khan 2019:31725702}" "" "Allele 1 c.942G>T (p.Lys314Asn), Allele 2 c.942G>T (p.Lys314Asn)" "homozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.128398546C>A" "" "likely pathogenic" "" "0000812702" "0" "70" "7" "128040446" "128040446" "subst" "0" "00000" "IMPDH1_000080" "g.128040446C>T" "" "{PMID:Wang 2019:31106028}" "" "c.727C>T, p.(Val243Ile)" "error in annotation: c.727C>T instead of G>A, heterozygous" "Germline" "yes" "" "0" "" "" "g.128400392C>T" "" "likely pathogenic" "" "0000812741" "0" "70" "7" "128034409" "128034409" "subst" "0.0000162452" "00000" "IMPDH1_000078" "g.128034409C>T" "" "{PMID:Wang 2019:31106028}" "" "c.1701C>T, p.(Met567Ile)" "error in annotation: c.1701C>T instead of G>A, heterozygous" "Germline" "?" "" "0" "" "" "g.128394355C>T" "" "likely pathogenic" "" "0000813671" "1" "70" "7" "128040187" "128040187" "subst" "0" "00000" "IMPDH1_000081" "g.128040187A>G" "" "{PMID:Xu 2020:31630094}" "" "IMPDH1 NM_000883: g.10120T>C, c.836T>C, p.L279S" "" "Germline" "yes" "" "0" "" "" "g.128400133A>G" "" "likely pathogenic" "ACMG" "0000815475" "0" "50" "7" "128038485" "128038485" "subst" "0.0000449747" "00000" "IMPDH1_000066" "g.128038485C>T" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "IMPDH1:NM_000883 c.G1057A, p.V353I" "heterozygous, individual solved, variant non-causal" "Germline" "?" "" "0" "" "" "g.128398431C>T" "" "VUS" "ACMG" "0000815587" "0" "50" "7" "128038575" "128038575" "subst" "0" "00000" "IMPDH1_000029" "g.128038575T>C" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "IMPDH1:NM_000883 c.A967G, p.K323E" "heterozygous, individual unsolved, causality of variants unknown" "Germline" "?" "" "0" "" "" "g.128398521T>C" "" "VUS" "ACMG" "0000815627" "0" "50" "7" "128034606" "128034606" "subst" "0.00075579" "00000" "IMPDH1_000039" "g.128034606T>C" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "IMPDH1:NM_000883 c.A1598G, p.Q533R" "heterozygous, individual unsolved, causality of variants unknown" "Germline" "?" "" "0" "" "" "g.128394552T>C" "" "VUS" "ACMG" "0000815934" "0" "70" "7" "128038575" "128038575" "subst" "0" "00000" "IMPDH1_000029" "g.128038575T>C" "" "{PMID:Zampaglione-2020:32037395}" "" "IMPDH1 c.967A>G, p.Lys323Glu" "heterozygous" "Unknown" "?" "" "0" "" "" "g.128398521T>C" "" "likely pathogenic" "" "0000816146" "0" "70" "7" "128038604" "128038606" "del" "0" "00000" "IMPDH1_000052" "g.128038604_128038606del" "" "{PMID:Zampaglione-2020:32037395}" "" "IMPDH1 c.942_944del, p.Lys314del" "heterozygous" "Unknown" "?" "" "0" "" "" "g.128398550_128398552del" "" "likely pathogenic" "" "0000817305" "0" "90" "7" "128398550" "128398552" "del" "0" "00000" "IMPDH1_000082" "g.128398550_128398552del" "" "{PMID:Sun-2020:32100970}" "" "IMPDH1 c.942_944delGAA, p.Lys314del, heterozygous" "" "Unknown" "?" "" "0" "" "" "g.128398550_128398552del" "" "pathogenic" "ACMG" "0000819067" "0" "70" "7" "128038609" "128038609" "subst" "0" "00000" "IMPDH1_000083" "g.128038609G>C" "" "{PMID:Dineiro 2020:32483926}" "" "IMPDH1 c.933C>G, p.(Asp311Glu)" "heterozygous" "Germline" "?" "" "0" "" "" "g.128398555G>C" "" "likely pathogenic" "ACMG" "0000819857" "1" "70" "7" "128038611" "128038611" "subst" "0.00000406527" "00000" "IMPDH1_000004" "g.128038611C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "IMPDH1, variant 1: c.931G>A/p.D311N" "solved, heterozygous" "Germline" "yes" "" "0" "" "" "g.128398557C>T" "" "likely pathogenic" "" "0000819858" "1" "70" "7" "128038611" "128038611" "subst" "0.00000406527" "00000" "IMPDH1_000004" "g.128038611C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "IMPDH1, variant 1: c.931G>A/p.D311N" "solved, heterozygous" "Germline" "yes" "" "0" "" "" "g.128398557C>T" "" "likely pathogenic" "" "0000820062" "1" "70" "7" "128035230" "128035230" "subst" "0.0000609419" "00000" "IMPDH1_000084" "g.128035230T>C" "" "{PMID:Weisschuh 2020:32531858}" "" "IMPDH1, variant 1: c.1360A>G/p.T454A" "possibly solved, heterozygous" "Unknown" "?" "" "0" "" "" "g.128395176T>C" "" "likely pathogenic" "" "0000820071" "1" "70" "7" "128049885" "128049885" "subst" "0.0000214073" "00000" "IMPDH1_000086" "g.128049885C>G" "" "{PMID:Weisschuh 2020:32531858}" "" "IMPDH1, variant 1: c.71G>C/p.R24P" "possibly solved, heterozygous" "Unknown" "?" "" "0" "" "" "g.128409831C>G" "" "likely pathogenic" "" "0000820216" "1" "70" "7" "128045921" "128045921" "subst" "0" "00000" "IMPDH1_000085" "g.128045921T>C" "" "{PMID:Weisschuh 2020:32531858}" "" "IMPDH1, variant 1: c.255-2A>G/p.?" "solved, heterozygous" "Unknown" "?" "" "0" "" "" "g.128405867T>C" "" "likely pathogenic" "" "0000821005" "0" "50" "7" "128034606" "128034606" "subst" "0.00075579" "00000" "IMPDH1_000039" "g.128034606T>C" "" "{PMID:Ruberto 2020:32507954}" "" "IMPDH1 gene:c.[1598A?>?G]; [?=], p.[Gln533Arg]; [?=]" "" "Unknown" "?" "" "0" "" "" "g.128394552T>C" "" "VUS" "" "0000824349" "0" "90" "7" "128038611" "128038611" "subst" "0.00000406527" "00000" "IMPDH1_000004" "g.128038611C>T" "" "{PMID:Xiao-2021:33598457}" "" "IMPDH1 c.931G>A, p.(D311N)" "" "Unknown" "yes" "" "0" "" "" "g.128398557C>T" "" "pathogenic" "ACMG" "0000824384" "0" "90" "7" "128040187" "128040187" "subst" "0" "00000" "IMPDH1_000081" "g.128040187A>G" "" "{PMID:Xiao-2021:33598457}" "" "IMPDH1 c.836T>C, p.(L279S)" "" "Unknown" "yes" "" "0" "" "" "g.128400133A>G" "" "pathogenic" "ACMG" "0000824734" "0" "70" "7" "128038574" "128038574" "subst" "0" "00000" "IMPDH1_000087" "g.128038574T>A" "" "{PMID:Ma 2021:33691693}" "" "IMPDH1 c.A968T, p.K323M" "marked as causative, heterozygous" "Unknown" "?" "" "0" "" "" "g.128398520T>A" "" "likely pathogenic" "ACMG" "0000824735" "0" "70" "7" "128038574" "128038574" "subst" "0" "00000" "IMPDH1_000087" "g.128038574T>A" "" "{PMID:Ma 2021:33691693}" "" "IMPDH1 c.A968T, p.K323M" "marked as causative, heterozygous" "Unknown" "?" "" "0" "" "" "g.128398520T>A" "" "likely pathogenic" "ACMG" "0000825814" "0" "70" "7" "128045855" "128045855" "subst" "0" "00000" "IMPDH1_000089" "g.128045855G>A" "" "{PMID:Liu-2020:33090715}" "" "c.319C>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000825815" "0" "70" "7" "128045856" "128045856" "subst" "0" "00000" "IMPDH1_000090" "g.128045856C>G" "" "{PMID:Liu-2020:33090715}" "" "c.318G>C" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000825920" "0" "70" "7" "128038558" "128038558" "subst" "0" "00000" "IMPDH1_000073" "g.128038558C>G" "" "{PMID:Liu-2020:33090715}" "" "c.984G>C" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (dominant)" "" "0000826158" "0" "70" "7" "128035057" "128035057" "subst" "0.0000771849" "00000" "IMPDH1_000061" "g.128035057G>A" "" "{PMID:Liu-2020:33090715}" "" "c.1436C>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (dominant)" "" "0000826365" "0" "70" "7" "128038574" "128038574" "subst" "0" "00000" "IMPDH1_000023" "g.128038574T>C" "" "{PMID:Liu-2020:33090715}" "" "c.968A>G" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (dominant)" "" "0000827128" "0" "50" "7" "128038598" "128038598" "subst" "0" "00000" "IMPDH1_000088" "g.128038598T>G" "" "{PMID:Colombo-2020:33576794}" "" "NM_001142574:c.674A>C(p.(Asn225Thr))" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000829053" "0" "70" "7" "128038461" "128038462" "delins" "0" "00000" "IMPDH1_000065" "g.128038461_128038462delinsAA" "" "{PMID:Georgiou 2021:32795431}" "" "IMPDH1 c.1074+6_1074+7delGCinsTT, p.?" "" "Unknown" "?" "" "0" "" "" "g.128398407_128398408delinsAA" "" "likely pathogenic" "" "0000829054" "0" "70" "7" "128038574" "128038574" "subst" "0" "00000" "IMPDH1_000023" "g.128038574T>C" "" "{PMID:Georgiou 2021:32795431}" "" "IMPDH1 c.968A>G, p.Lys323Arg" "" "Unknown" "?" "" "0" "" "" "g.128398520T>C" "" "likely pathogenic" "" "0000829055" "0" "70" "7" "128034601" "128034601" "subst" "0.0000162526" "00000" "IMPDH1_000091" "g.128034601T>C" "" "{PMID:Georgiou 2021:32795431}" "" "IMPDH1 c.1603A>G, p.Lys535Glu" "" "Unknown" "?" "" "0" "" "" "g.128394547T>C" "" "likely pathogenic" "" "0000845393" "0" "90" "7" "0" "0" "" "0" "00000" "EZH2_000001" "g.?" "" "{PMID:Kennan 2002:11875049}" "" "JO5272: Arg224Pro" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000845394" "0" "90" "7" "128040497" "128040497" "subst" "0" "00000" "IMPDH1_000058" "g.128040497C>T" "" "{PMID:Bowne 2002:11875050}" "" "Asp226Asn (GAC?AAC)" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000845395" "0" "90" "7" "128040497" "128040497" "subst" "0" "00000" "IMPDH1_000058" "g.128040497C>T" "" "{PMID:Bowne 2002:11875050}" "" "Asp226Asn (GAC?AAC)" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000845396" "0" "90" "7" "128040497" "128040497" "subst" "0" "00000" "IMPDH1_000058" "g.128040497C>T" "" "{PMID:Bowne 2002:11875050}" "" "Asp226Asn (GAC?AAC)" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000845397" "0" "90" "7" "128040497" "128040497" "subst" "0" "00000" "IMPDH1_000058" "g.128040497C>T" "" "{PMID:Bowne 2002:11875050}" "" "Asp226Asn (GAC?AAC)" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000845398" "0" "90" "7" "128040221" "128040221" "subst" "0" "00000" "IMPDH1_000094" "g.128040221T>C" "" "{PMID:Bowne 2002:11875050}" "" "Val268Ile (GTC?ATC)" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000845399" "0" "90" "7" "128049366" "128049366" "subst" "0" "00000" "IMPDH1_000097" "g.128049366C>G" "" "{PMID:Grover 2004:15465556}" "" "Arg231Pro" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000845400" "0" "90" "7" "128049366" "128049366" "subst" "0" "00000" "IMPDH1_000097" "g.128049366C>G" "" "{PMID:Grover 2004:15465556}" "" "Arg231Pro" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000845401" "0" "90" "7" "128049366" "128049366" "subst" "0" "00000" "IMPDH1_000097" "g.128049366C>G" "" "{PMID:Grover 2004:15465556}" "" "Arg231Pro" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000845402" "0" "90" "7" "128049366" "128049366" "subst" "0" "00000" "IMPDH1_000097" "g.128049366C>G" "" "{PMID:Grover 2004:15465556}" "" "Arg231Pro" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000845403" "0" "90" "7" "128049366" "128049366" "subst" "0" "00000" "IMPDH1_000097" "g.128049366C>G" "" "{PMID:Grover 2004:15465556}" "" "Arg231Pro" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000845404" "0" "90" "7" "128049366" "128049366" "subst" "0" "00000" "IMPDH1_000097" "g.128049366C>G" "" "{PMID:Grover 2004:15465556}" "" "Arg231Pro" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000845405" "0" "90" "7" "128049366" "128049366" "subst" "0" "00000" "IMPDH1_000097" "g.128049366C>G" "" "{PMID:Grover 2004:15465556}" "" "Arg231Pro" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000845406" "0" "90" "7" "128049366" "128049366" "subst" "0" "00000" "IMPDH1_000097" "g.128049366C>G" "" "{PMID:Grover 2004:15465556}" "" "Arg231Pro" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000845407" "0" "90" "7" "128049366" "128049366" "subst" "0" "00000" "IMPDH1_000097" "g.128049366C>G" "" "{PMID:Grover 2004:15465556}" "" "Arg231Pro" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000845408" "0" "90" "7" "128049366" "128049366" "subst" "0" "00000" "IMPDH1_000097" "g.128049366C>G" "" "{PMID:Grover 2004:15465556}" "" "Arg231Pro" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000845409" "0" "90" "7" "128049366" "128049366" "subst" "0" "00000" "IMPDH1_000097" "g.128049366C>G" "" "{PMID:Grover 2004:15465556}" "" "Arg231Pro" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000845410" "0" "90" "7" "128049366" "128049366" "subst" "0" "00000" "IMPDH1_000097" "g.128049366C>G" "" "{PMID:Grover 2004:15465556}" "" "Arg231Pro" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000845411" "0" "90" "7" "128049366" "128049366" "subst" "0" "00000" "IMPDH1_000097" "g.128049366C>G" "" "{PMID:Grover 2004:15465556}" "" "Arg231Pro" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000845412" "0" "90" "7" "128049366" "128049366" "subst" "0" "00000" "IMPDH1_000097" "g.128049366C>G" "" "{PMID:Grover 2004:15465556}" "" "Arg231Pro" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000845413" "0" "90" "7" "128049366" "128049366" "subst" "0" "00000" "IMPDH1_000097" "g.128049366C>G" "" "{PMID:Grover 2004:15465556}" "" "Arg231Pro" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000845414" "0" "90" "7" "128049366" "128049366" "subst" "0" "00000" "IMPDH1_000097" "g.128049366C>G" "" "{PMID:Grover 2004:15465556}" "" "Arg231Pro" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000845415" "0" "90" "7" "128040497" "128040497" "subst" "0" "00000" "IMPDH1_000058" "g.128040497C>T" "" "{PMID:Wada 2005:15851576}" "" "Asp226Asn" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000845416" "0" "90" "7" "128040497" "128040497" "subst" "0" "00000" "IMPDH1_000058" "g.128040497C>T" "" "{PMID:Wada 2005:15851576}" "" "Asp226Asn" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000845417" "0" "90" "7" "128040497" "128040497" "subst" "0" "00000" "IMPDH1_000058" "g.128040497C>T" "" "{PMID:Wada 2005:15851576}" "" "Asp226Asn" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000845418" "0" "90" "7" "128040497" "128040497" "subst" "0" "00000" "IMPDH1_000058" "g.128040497C>T" "" "{PMID:Wada 2005:15851576}" "" "Asp226Asn" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000845419" "0" "90" "7" "128040497" "128040497" "subst" "0" "00000" "IMPDH1_000058" "g.128040497C>T" "" "{PMID:Wada 2005:15851576}" "" "Asp226Asn" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000845420" "0" "90" "7" "128040497" "128040497" "subst" "0" "00000" "IMPDH1_000058" "g.128040497C>T" "" "{PMID:Wada 2005:15851576}" "" "Asp226Asn" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000845421" "0" "90" "7" "128040497" "128040497" "subst" "0" "00000" "IMPDH1_000058" "g.128040497C>T" "" "{PMID:Wada 2005:15851576}" "" "Asp226Asn" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000845422" "0" "90" "7" "128040497" "128040497" "subst" "0" "00000" "IMPDH1_000058" "g.128040497C>T" "" "{PMID:Wada 2005:15851576}" "" "Asp226Asn" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000845423" "0" "90" "7" "128040497" "128040497" "subst" "0" "00000" "IMPDH1_000058" "g.128040497C>T" "" "{PMID:Wada 2005:15851576}" "" "Asp226Asn" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000845424" "0" "90" "7" "128040497" "128040497" "subst" "0" "00000" "IMPDH1_000058" "g.128040497C>T" "" "{PMID:Wada 2005:15851576}" "" "Asp226Asn" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000845425" "0" "90" "7" "128040497" "128040497" "subst" "0" "00000" "IMPDH1_000058" "g.128040497C>T" "" "{PMID:Wada 2005:15851576}" "" "Asp226Asn" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000845426" "0" "90" "7" "128040497" "128040497" "subst" "0" "00000" "IMPDH1_000058" "g.128040497C>T" "" "{PMID:Wada 2005:15851576}" "" "Asp226Asn" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000845427" "0" "90" "7" "128040497" "128040497" "subst" "0" "00000" "IMPDH1_000058" "g.128040497C>T" "" "{PMID:Wada 2005:15851576}" "" "Asp226Asn" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000845428" "0" "90" "7" "128040497" "128040497" "subst" "0" "00000" "IMPDH1_000058" "g.128040497C>T" "" "{PMID:Wada 2005:15851576}" "" "Asp226Asn" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000845429" "0" "30" "7" "128035006" "128035006" "subst" "0" "00000" "IMPDH1_000092" "g.128035006T>C" "" "{PMID:Wada 2005:15851576}" "" "His296Arg (CAC to CGC; c.1487A>G)" "" "Germline" "no" "" "0" "" "" "" "" "likely benign" "" "0000845431" "0" "90" "7" "128040497" "128040497" "subst" "0" "00000" "IMPDH1_000058" "g.128040497C>T" "" "{PMID:Wada 2005:15851576}" "" "Asp226Asn" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000845432" "0" "90" "7" "128040497" "128040497" "subst" "0" "00000" "IMPDH1_000058" "g.128040497C>T" "" "{PMID:Wada 2005:15851576}" "" "Asp226Asn" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000845433" "0" "90" "7" "128040497" "128040497" "subst" "0" "00000" "IMPDH1_000058" "g.128040497C>T" "" "{PMID:Wada 2005:15851576}" "" "Asp226Asn" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000845434" "0" "90" "7" "128040497" "128040497" "subst" "0" "00000" "IMPDH1_000058" "g.128040497C>T" "" "{PMID:Wada 2005:15851576}" "" "Asp226Asn" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000845435" "0" "90" "7" "128040497" "128040497" "subst" "0" "00000" "IMPDH1_000058" "g.128040497C>T" "" "{PMID:Wada 2005:15851576}" "" "Asp226Asn" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000845436" "0" "90" "7" "128040497" "128040497" "subst" "0" "00000" "IMPDH1_000058" "g.128040497C>T" "" "{PMID:Wada 2005:15851576}" "" "Asp226Asn" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000845437" "0" "90" "7" "128040497" "128040497" "subst" "0" "00000" "IMPDH1_000058" "g.128040497C>T" "" "{PMID:Wada 2005:15851576}" "" "Asp226Asn" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000845438" "0" "90" "7" "128040497" "128040497" "subst" "0" "00000" "IMPDH1_000058" "g.128040497C>T" "" "{PMID:Wada 2005:15851576}" "" "Asp226Asn" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000845439" "0" "70" "7" "128035278" "128035278" "subst" "0" "00000" "IMPDH1_000093" "g.128035278T>C" "0/92 controls" "{PMID:Wada 2005:15851576}" "" "Lys238Glu (AAG to GAG; c.1312A>G)" "A not found at position 1393, found T instead." "Germline" "?" "" "0" "" "" "" "" "likely pathogenic" "" "0000845440" "0" "90" "7" "0" "0" "" "0" "00000" "EZH2_000001" "g.?" "" "{PMID:Mortimer 2005:15882147}" "" "R224P" "adRP-linked" "In vitro (cloned)" "" "" "0" "" "" "" "" "pathogenic" "" "0000845441" "0" "90" "7" "0" "0" "" "0" "00000" "EZH2_000001" "g.?" "" "{PMID:Mortimer 2005:15882147}" "" "D226N" "adRP-linked" "In vitro (cloned)" "" "" "0" "" "" "" "" "pathogenic" "" "0000845442" "0" "90" "7" "0" "0" "" "0" "00000" "EZH2_000001" "g.?" "" "{PMID:Mortimer 2005:15882147}" "" "V268I" "adRP-linked" "In vitro (cloned)" "" "" "0" "" "" "" "" "pathogenic" "" "0000845443" "0" "90" "7" "0" "0" "" "0" "00000" "EZH2_000001" "g.?" "" "{PMID:Wada 2005:16038673}" "" "J05272: Leu227Pro" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000845444" "0" "70" "7" "0" "0" "" "0" "00000" "EZH2_000001" "g.?" "0/50 controls" "{PMID:Wada 2005:16038673}" "" "J05272: Lys238Arg" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000845445" "0" "90" "7" "128040497" "128040497" "subst" "0" "00000" "IMPDH1_000058" "g.128040497C>T" "" "{PMID:Kozma 2005:16214101}" "" "Asp226Asn" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000845446" "0" "90" "7" "128040497" "128040497" "subst" "0" "00000" "IMPDH1_000058" "g.128040497C>T" "" "{PMID:Kozma 2005:16214101}" "" "Asp226Asn" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000845447" "0" "90" "7" "128040497" "128040497" "subst" "0" "00000" "IMPDH1_000058" "g.128040497C>T" "" "{PMID:Kozma 2005:16214101}" "" "Asp226Asn" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000845448" "0" "90" "7" "128040497" "128040497" "subst" "0" "00000" "IMPDH1_000058" "g.128040497C>T" "" "{PMID:Kozma 2005:16214101}" "" "Asp226Asn" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000845449" "0" "90" "7" "128040497" "128040497" "subst" "0" "00000" "IMPDH1_000058" "g.128040497C>T" "" "{PMID:Kozma 2005:16214101}" "" "Asp226Asn" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000845450" "0" "90" "7" "128040497" "128040497" "subst" "0" "00000" "IMPDH1_000058" "g.128040497C>T" "" "{PMID:Kozma 2005:16214101}" "" "Asp226Asn" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000845451" "0" "90" "7" "128040497" "128040497" "subst" "0" "00000" "IMPDH1_000058" "g.128040497C>T" "" "{PMID:Kozma 2005:16214101}" "" "Asp226Asn" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000845452" "0" "90" "7" "128040497" "128040497" "subst" "0" "00000" "IMPDH1_000058" "g.128040497C>T" "" "{PMID:Kozma 2005:16214101}" "" "Asp226Asn" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000845453" "0" "90" "7" "128040497" "128040497" "subst" "0" "00000" "IMPDH1_000058" "g.128040497C>T" "" "{PMID:Kozma 2005:16214101}" "" "Asp226Asn" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000845454" "0" "90" "7" "128040497" "128040497" "subst" "0" "00000" "IMPDH1_000058" "g.128040497C>T" "" "{PMID:Kozma 2005:16214101}" "" "Asp226Asn" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000845455" "0" "90" "7" "128040497" "128040497" "subst" "0" "00000" "IMPDH1_000058" "g.128040497C>T" "" "{PMID:Kozma 2005:16214101}" "" "Asp226Asn" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000845456" "0" "90" "7" "128040497" "128040497" "subst" "0" "00000" "IMPDH1_000058" "g.128040497C>T" "" "{PMID:Schatz 2005:16272056}" "" "Asp226Asn" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000845457" "0" "90" "7" "128040497" "128040497" "subst" "0" "00000" "IMPDH1_000058" "g.128040497C>T" "" "{PMID:Schatz 2005:16272056}" "" "Asp226Asn" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000845458" "0" "90" "7" "128040497" "128040497" "subst" "0" "00000" "IMPDH1_000058" "g.128040497C>T" "" "{PMID:Schatz 2005:16272056}" "" "Asp226Asn" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000845459" "0" "90" "7" "128040497" "128040497" "subst" "0" "00000" "IMPDH1_000058" "g.128040497C>T" "" "{PMID:Schatz 2005:16272056}" "" "Asp226Asn" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000845460" "0" "90" "7" "128040497" "128040497" "subst" "0" "00000" "IMPDH1_000058" "g.128040497C>T" "" "{PMID:Schatz 2005:16272056}" "" "Asp226Asn" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000845461" "0" "90" "7" "128040497" "128040497" "subst" "0" "00000" "IMPDH1_000058" "g.128040497C>T" "" "{PMID:Schatz 2005:16272056}" "" "Asp226Asn" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000845462" "0" "90" "7" "128040497" "128040497" "subst" "0" "00000" "IMPDH1_000058" "g.128040497C>T" "" "{PMID:Bowne 2006:16384941}" "" "Asp226Asn" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000845463" "0" "90" "7" "128040497" "128040497" "subst" "0" "00000" "IMPDH1_000058" "g.128040497C>T" "" "{PMID:Bowne 2006:16384941}" "" "Asp226Asn" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000845464" "0" "90" "7" "128040497" "128040497" "subst" "0" "00000" "IMPDH1_000058" "g.128040497C>T" "" "{PMID:Bowne 2006:16384941}" "" "Asp226Asn" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000845465" "0" "70" "7" "128037036" "128037036" "subst" "0" "00000" "IMPDH1_000051" "g.128037036T>G" "" "{PMID:Bowne 2006:16384941}" "" "His372Pro" "A not found at position 1196, found T instead." "Germline" "?" "" "0" "" "" "" "" "likely pathogenic" "" "0000845466" "0" "70" "7" "128045825" "128045825" "subst" "0" "00000" "IMPDH1_000096" "g.128045825G>A" "" "{PMID:Bowne 2006:16384941}" "" "Thr116Met" "C not found at position 430, found T instead." "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000845467" "0" "10" "7" "128038571" "128038571" "subst" "0" "00000" "IMPDH1_000051" "g.128038571C>T" "" "{PMID:Bowne 2006:16384941}" "" "Gly324Asp" "G not found at position 1052, found A instead." "Germline" "?" "" "0" "" "" "" "" "benign" "" "0000845468" "0" "10" "7" "128038571" "128038571" "subst" "0" "00000" "IMPDH1_000051" "g.128038571C>T" "" "{PMID:Bowne 2006:16384941}" "" "Gly324Asp" "G not found at position 1052, found A instead." "Germline" "?" "" "0" "" "" "" "" "benign" "" "0000845469" "0" "70" "7" "128040221" "128040221" "subst" "0" "00000" "IMPDH1_000095" "g.128040221C>T" "" "{PMID:Bowne 2006:16384941}" "" "Va1268Ile" "G not found at position 883, found A instead." "Germline" "?" "" "0" "" "" "" "" "likely pathogenic" "" "0000845470" "0" "70" "7" "128045861" "128045861" "subst" "0" "00000" "IMPDH1_000051" "g.128045861G>A" "" "{PMID:Bowne 2006:16384941}" "" "Arg105Trp" "C not found at position 394, found G instead." "Germline" "?" "" "0" "" "" "" "" "likely pathogenic" "" "0000845471" "0" "90" "7" "128040579" "128040579" "subst" "0" "00000" "IMPDH1_000051" "g.128040579A>C" "" "{PMID:Bowne 2006:16384941}" "" "Asn198Lys" "T not found at position 675, found C instead." "De novo" "no" "" "0" "" "" "" "" "pathogenic" "" "0000845472" "0" "10" "7" "128038655" "128038655" "subst" "0" "00000" "IMPDH1_000051" "g.128038655T>C" "" "{PMID:Bowne 2006:16384941}" "" "His296Arg" "A not found at position 968, found T instead." "Germline" "?" "" "0" "" "" "" "" "benign" "" "0000845513" "0" "70" "7" "128040214" "128040214" "subst" "0" "00000" "IMPDH1_000068" "g.128040214A>C" "Novel" "{PMID:Borràs 2013:23534816}" "" "c.809T>G" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000847351" "0" "90" "7" "128038598" "128038600" "del" "0" "00000" "IMPDH1_000052" "g.128038598_128038600del" "" "" "" "c.942_944delGAA" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000847354" "3" "90" "7" "128040497" "128040497" "subst" "0" "00000" "IMPDH1_000058" "g.128040497C>T" "0/384 ethnically matched control chromosomes" "" "" "D226N" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000847355" "0" "90" "7" "128040497" "128040497" "subst" "0" "00000" "IMPDH1_000058" "g.128040497C>T" "0/384 ethnically matched control chromosomes" "" "" "D226N" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000847356" "0" "90" "7" "128038611" "128038611" "subst" "0.00000406527" "00000" "IMPDH1_000004" "g.128038611C>T" "" "" "" "c.931G>A(p.Asp311Asn)" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000847357" "0" "90" "7" "128038611" "128038611" "subst" "0.00000406527" "00000" "IMPDH1_000004" "g.128038611C>T" "" "" "" "c.931G>A(p.Asp311Asn)" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000847358" "0" "90" "7" "128038611" "128038611" "subst" "0.00000406527" "00000" "IMPDH1_000004" "g.128038611C>T" "" "" "" "c.931G>A(p.Asp311Asn)" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000847359" "0" "90" "7" "128038611" "128038611" "subst" "0.00000406527" "00000" "IMPDH1_000004" "g.128038611C>T" "" "" "" "c.931G>A(p.Asp311Asn)" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000847360" "0" "90" "7" "128038611" "128038611" "subst" "0.00000406527" "00000" "IMPDH1_000004" "g.128038611C>T" "" "" "" "c.931G>A(p.Asp311Asn)" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000847361" "0" "90" "7" "128038611" "128038611" "subst" "0.00000406527" "00000" "IMPDH1_000004" "g.128038611C>T" "" "" "" "c.931G>A(p.Asp311Asn)" "" "Unknown" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000847362" "0" "90" "7" "128038611" "128038611" "subst" "0.00000406527" "00000" "IMPDH1_000004" "g.128038611C>T" "" "" "" "c.931G>A(p.Asp311Asn)" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000847363" "0" "90" "7" "128038611" "128038611" "subst" "0.00000406527" "00000" "IMPDH1_000004" "g.128038611C>T" "" "" "" "c.931G>A(p.Asp311Asn)" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000847364" "0" "90" "7" "128038611" "128038611" "subst" "0.00000406527" "00000" "IMPDH1_000004" "g.128038611C>T" "" "" "" "c.931G>A(p.Asp311Asn)" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000847365" "0" "90" "7" "128038611" "128038611" "subst" "0.00000406527" "00000" "IMPDH1_000004" "g.128038611C>T" "" "" "" "c.931G>A(p.Asp311Asn)" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000847366" "0" "90" "7" "128038611" "128038611" "subst" "0.00000406527" "00000" "IMPDH1_000004" "g.128038611C>T" "" "" "" "c.931G>A(p.Asp311Asn)" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000847367" "0" "90" "7" "128038611" "128038611" "subst" "0.00000406527" "00000" "IMPDH1_000004" "g.128038611C>T" "" "" "" "c.931G>A(p.Asp311Asn)" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000851398" "0" "50" "7" "128035036" "128035038" "del" "0" "01943" "IMPDH1_000009" "g.128035036_128035038del" "" "" "" "IMPDH1(NM_000883.3):c.1460_1462delTCT (p.F487del), IMPDH1(NM_000883.4):c.1460_1462delTCT (p.F487del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000851399" "0" "30" "7" "128049489" "128049489" "subst" "0" "01943" "IMPDH1_000101" "g.128049489A>T" "" "" "" "IMPDH1(NM_000883.3):c.190+6T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860610" "0" "30" "7" "128034494" "128034494" "subst" "0.000146258" "02330" "IMPDH1_000098" "g.128034494C>T" "" "" "" "IMPDH1(NM_000883.4):c.1694+16G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860611" "0" "30" "7" "128043745" "128043745" "subst" "0.0000487286" "02330" "IMPDH1_000099" "g.128043745G>A" "" "" "" "IMPDH1(NM_000883.4):c.402+15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860612" "0" "30" "7" "128043751" "128043751" "subst" "0" "01943" "IMPDH1_000100" "g.128043751G>A" "" "" "" "IMPDH1(NM_000883.3):c.402+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860613" "0" "50" "7" "128049949" "128049949" "subst" "0" "01943" "IMPDH1_000102" "g.128049949C>T" "" "" "" "IMPDH1(NM_000883.3):c.7G>A (p.G3R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000873465" "0" "70" "7" "128040547" "128040547" "subst" "0.000094407" "00000" "IMPDH1_000103" "g.128040547G>A" "118" "{PMID:Sun 2018:30076350}" "" "IMPDH1 (NM_000883.3):c.626C>T(p.S209L)" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.128400493G>A" "" "likely pathogenic" "" "0000873466" "0" "70" "7" "128040547" "128040547" "subst" "0.000094407" "00000" "IMPDH1_000103" "g.128040547G>A" "119" "{PMID:Sun 2018:30076350}" "" "IMPDH1 (NM_000883.3):c.626C>T(p.S209L)" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.128400493G>A" "" "likely pathogenic" "" "0000887579" "0" "30" "7" "128034542" "128034542" "subst" "0.00045907" "02330" "IMPDH1_000104" "g.128034542C>T" "" "" "" "IMPDH1(NM_000883.4):c.1662G>A (p.Q554=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887580" "0" "30" "7" "128045826" "128045826" "subst" "0" "02330" "IMPDH1_000105" "g.128045826G>A" "" "" "" "IMPDH1(NM_000883.4):c.348C>T (p.T116=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000905962" "0" "50" "7" "128040923" "128040923" "subst" "0" "00000" "IMPDH1_000106" "g.128040923A>G" "" "{PMID:Zhu 2022:35456422}" "" "IMPDH1 c.527T>C, p.(Ile176Thr)" "heterozygous, probably causal" "Germline/De novo (untested)" "?" "" "0" "" "" "g.128400869A>G" "" "VUS" "ACMG" "0000912637" "0" "10" "7" "128038555" "128038555" "subst" "0.157848" "02327" "IMPDH1_000014" "g.128038555C>G" "" "" "" "IMPDH1(NM_000883.4):c.987G>C (p.L329=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "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 IMPDH1 ## Count = 268 "{{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}}" "0000004543" "00000238" "50" "1575" "0" "1575" "0" "c.1575G>A" "r.(=)" "p.(=)" "15" "0000059939" "00000238" "70" "1030" "0" "1030" "0" "c.1030C>T" "r.(?)" "p.(Arg344Cys)" "10" "0000079506" "00000238" "00" "-7524004" "0" "7034797" "0" "c.-7524004_*7032997del" "r.0?" "p.0?" "" "0000158317" "00000238" "90" "931" "0" "931" "0" "c.931G>A" "r.(?)" "p.(Asp311Asn)" "10" "0000253537" "00000238" "10" "522" "0" "522" "0" "c.522T>C" "r.(?)" "p.(Gly174=)" "" "0000278008" "00000238" "30" "1142" "0" "1142" "0" "c.1142A>G" "r.(?)" "p.(His381Arg)" "" "0000278009" "00000238" "30" "1460" "0" "1462" "0" "c.1460_1462del" "r.(?)" "p.(Phe487del)" "" "0000278010" "00000238" "50" "1642" "0" "1642" "0" "c.1642G>A" "r.(?)" "p.(Gly548Ser)" "" "0000278011" "00000238" "10" "1668" "0" "1668" "0" "c.1668C>T" "r.(?)" "p.(Ile556=)" "" "0000278012" "00000238" "30" "1714" "0" "1714" "0" "c.1714G>C" "r.(?)" "p.(Glu572Gln)" "" "0000278013" "00000238" "10" "444" "0" "444" "0" "c.444G>T" "r.(?)" "p.(Thr148=)" "" "0000278014" "00000238" "10" "930" "0" "930" "0" "c.930C>T" "r.(?)" "p.(Thr310=)" "" "0000281537" "00000238" "10" "987" "0" "987" "0" "c.987G>C" "r.(?)" "p.(Leu329=)" "" "0000289612" "00000238" "50" "1108" "0" "1108" "0" "c.1108G>A" "r.(?)" "p.(Ala370Thr)" "" "0000289613" "00000238" "30" "1142" "0" "1142" "0" "c.1142A>G" "r.(?)" "p.(His381Arg)" "" "0000289614" "00000238" "30" "1173" "0" "1173" "0" "c.1173A>G" "r.(?)" "p.(Thr391=)" "" "0000289615" "00000238" "50" "1262" "-3" "1262" "-3" "c.1262-3C>T" "r.spl?" "p.?" "" "0000289616" "00000238" "50" "34" "0" "34" "0" "c.34G>C" "r.(?)" "p.(Gly12Arg)" "" "0000289617" "00000238" "30" "580" "-5" "580" "-5" "c.580-5C>T" "r.spl?" "p.?" "" "0000289618" "00000238" "30" "769" "0" "769" "0" "c.769A>G" "r.(?)" "p.(Thr257Ala)" "" "0000289619" "00000238" "30" "930" "0" "930" "0" "c.930C>T" "r.(?)" "p.(Thr310=)" "" "0000331855" "00000238" "50" "1572" "0" "1572" "0" "c.1572C>G" "r.(?)" "p.(Ile524Met)" "" "0000342154" "00000238" "50" "568" "0" "568" "0" "c.568C>T" "r.(?)" "p.(Arg190Trp)" "" "0000342690" "00000238" "50" "1030" "0" "1030" "0" "c.1030C>T" "r.(?)" "p.(Arg344Cys)" "" "0000344052" "00000238" "90" "931" "0" "931" "0" "c.931G>A" "r.(?)" "p.(Asp311Asn)" "" "0000344069" "00000238" "30" "1060" "0" "1060" "0" "c.1060G>A" "r.(?)" "p.(Asp354Asn)" "" "0000438564" "00000238" "90" "968" "0" "968" "0" "c.968A>G" "r.(?)" "p.(Lys323Arg)" "10" "0000476657" "00000238" "50" "1489" "0" "1489" "0" "c.1489C>T" "r.(?)" "p.(Arg497Trp)" "" "0000476658" "00000238" "50" "1474" "0" "1474" "0" "c.1474C>T" "r.(?)" "p.(Arg492Trp)" "" "0000476659" "00000238" "50" "1433" "0" "1433" "0" "c.1433C>G" "r.(?)" "p.(Thr478Ser)" "" "0000476660" "00000238" "50" "1299" "0" "1299" "0" "c.1299C>A" "r.(?)" "p.(Tyr433*)" "" "0000476661" "00000238" "50" "1296" "0" "1297" "0" "c.1296_1297del" "r.(?)" "p.(Tyr433Glnfs*4)" "" "0000476662" "00000238" "50" "1175" "0" "1175" "0" "c.1175C>T" "r.(?)" "p.(Ala392Val)" "" "0000476663" "00000238" "90" "967" "0" "967" "0" "c.967A>G" "r.(?)" "p.(Lys323Glu)" "" "0000476664" "00000238" "90" "931" "0" "931" "0" "c.931G>A" "r.(?)" "p.(Asp311Asn)" "" "0000476665" "00000238" "50" "925" "0" "925" "0" "c.925C>G" "r.(?)" "p.(Arg309Gly)" "" "0000476666" "00000238" "50" "868" "0" "868" "0" "c.868A>G" "r.(?)" "p.(Lys290Glu)" "" "0000476667" "00000238" "50" "848" "0" "848" "0" "c.848A>G" "r.(?)" "p.(Asn283Ser)" "" "0000476668" "00000238" "50" "799" "0" "799" "0" "c.799A>G" "r.(?)" "p.(Arg267Gly)" "" "0000476669" "00000238" "50" "786" "4" "786" "4" "c.786+4C>G" "r.spl?" "p.?" "" "0000476670" "00000238" "50" "659" "0" "659" "0" "c.659T>A" "r.(?)" "p.(Met220Lys)" "" "0000476671" "00000238" "50" "568" "0" "568" "0" "c.568C>T" "r.(?)" "p.(Arg190Trp)" "" "0000476672" "00000238" "50" "403" "-5" "403" "-5" "c.403-5C>A" "r.spl?" "p.?" "" "0000476673" "00000238" "90" "193" "0" "193" "0" "c.193del" "r.(?)" "p.(Leu65Tyrfs*26)" "" "0000530616" "00000238" "30" "1598" "0" "1598" "0" "c.1598A>G" "r.(?)" "p.(Gln533Arg)" "" "0000530617" "00000238" "50" "1598" "0" "1598" "0" "c.1598A>G" "r.(?)" "p.(Gln533Arg)" "" "0000530618" "00000238" "10" "1536" "0" "1536" "0" "c.1536G>A" "r.(?)" "p.(Gln512=)" "" "0000530619" "00000238" "30" "1536" "0" "1536" "0" "c.1536G>A" "r.(?)" "p.(Gln512=)" "" "0000530620" "00000238" "50" "1322" "0" "1322" "0" "c.1322G>A" "r.(?)" "p.(Arg441His)" "" "0000530621" "00000238" "30" "1108" "0" "1108" "0" "c.1108G>A" "r.(?)" "p.(Ala370Thr)" "" "0000530622" "00000238" "50" "1060" "0" "1060" "0" "c.1060G>A" "r.(?)" "p.(Asp354Asn)" "" "0000530623" "00000238" "10" "888" "0" "888" "0" "c.888C>T" "r.(?)" "p.(Ile296=)" "" "0000530624" "00000238" "50" "461" "0" "461" "0" "c.461C>T" "r.(?)" "p.(Pro154Leu)" "" "0000530625" "00000238" "10" "353" "7" "353" "7" "c.353+7G>C" "r.(=)" "p.(=)" "" "0000530626" "00000238" "10" "254" "17" "254" "17" "c.254+17C>T" "r.(=)" "p.(=)" "" "0000610659" "00000238" "30" "1545" "0" "1545" "0" "c.1545C>T" "r.(?)" "p.(Tyr515=)" "" "0000610660" "00000238" "30" "1545" "0" "1545" "0" "c.1545C>T" "r.(?)" "p.(Tyr515=)" "" "0000610661" "00000238" "30" "1368" "0" "1368" "0" "c.1368A>C" "r.(?)" "p.(Gly456=)" "" "0000610662" "00000238" "30" "769" "0" "769" "0" "c.769A>G" "r.(?)" "p.(Thr257Ala)" "" "0000610663" "00000238" "30" "353" "8" "353" "8" "c.353+8C>A" "r.(=)" "p.(=)" "" "0000655733" "00000238" "30" "1714" "0" "1714" "0" "c.1714G>C" "r.(?)" "p.(Glu572Gln)" "" "0000655734" "00000238" "50" "1669" "0" "1669" "0" "c.1669G>A" "r.(?)" "p.(Gly557Arg)" "" "0000655735" "00000238" "70" "968" "0" "968" "0" "c.968A>G" "r.(?)" "p.(Lys323Arg)" "" "0000663585" "00000238" "50" "1108" "0" "1108" "0" "c.1108G>A" "r.(?)" "p.(Ala370Thr)" "" "0000677949" "00000238" "50" "640" "0" "640" "0" "c.640G>A" "r.(?)" "p.(Asp214Asn)" "" "0000684531" "00000238" "70" "568" "0" "568" "0" "c.568C>T" "r.(?)" "p.(Arg190Trp)" "" "0000684532" "00000238" "70" "931" "0" "931" "0" "c.931G>A" "r.(?)" "p.(Asp311Asn)" "" "0000684533" "00000238" "70" "942" "0" "944" "0" "c.942_944del" "r.(?)" "p.(Lys314del)" "" "0000685251" "00000238" "70" "" "0" "" "0" "c.?" "r.(?)" "p.(Leu284Pro)" "" "0000689897" "00000238" "30" "1668" "0" "1668" "0" "c.1668C>T" "r.(?)" "p.(Ile556=)" "" "0000711691" "00000238" "10" "1142" "0" "1142" "0" "c.1142A>G" "r.(?)" "p.(His381Arg)" "11" "0000721220" "00000238" "50" "1789" "0" "1789" "0" "c.1789C>T" "r.(?)" "p.(Arg597Trp)" "" "0000721221" "00000238" "50" "1191" "0" "1191" "0" "c.1191C>A" "r.(?)" "p.(Asn397Lys)" "" "0000721222" "00000238" "50" "568" "0" "568" "0" "c.568C>T" "r.(?)" "p.(Arg190Trp)" "" "0000730691" "00000238" "90" "189" "0" "189" "0" "c.189A>G" "r.spl" "p.?" "2" "0000732423" "00000238" "90" "931" "0" "931" "0" "c.931G>A" "r.(?)" "p.(Asp311Asn)" "" "0000732561" "00000238" "50" "931" "0" "931" "0" "c.931G>A" "r.(?)" "p.(Asp311Asn)" "" "0000732562" "00000238" "50" "931" "0" "931" "0" "c.931G>A" "r.(?)" "p.(Asp311Asn)" "" "0000733207" "00000238" "70" "592" "0" "592" "0" "c.592G>T" "r.(?)" "p.(Gly198Cys)" "" "0000733208" "00000238" "70" "968" "0" "968" "0" "c.968A>G" "r.(?)" "p.(Lys323Arg)" "" "0000734342" "00000238" "70" "931" "0" "931" "0" "c.931G>A" "r.(?)" "p.(Asp311Asn)" "" "0000734708" "00000238" "90" "968" "0" "968" "0" "c.968A>G" "r.(?)" "p.(Lys323Arg)" "" "0000735627" "00000238" "70" "1433" "0" "1433" "0" "c.1433C>T" "r.(?)" "p.(Thr478Ile)" "" "0000736102" "00000238" "70" "931" "0" "931" "0" "c.931G>A" "r.(?)" "p.(Asp311Asn)" "" "0000736409" "00000238" "90" "676" "0" "676" "0" "c.676G>A" "r.(?)" "p.(Gly226Ser)" "7" "0000759651" "00000238" "70" "" "0" "" "0" "c.?" "r.?" "p.?" "" "0000760658" "00000238" "90" "402" "57" "402" "57" "c.402+57G>A" "r.spl" "p.?" "" "0000765522" "00000238" "70" "" "0" "" "0" "c.?" "r.(?)" "p.?" "" "0000784158" "00000238" "50" "1405" "9" "1405" "9" "c.1405+9A>G" "r.(=)" "p.(=)" "" "0000784191" "00000238" "90" "931" "0" "931" "0" "c.931G>A" "r.(?)" "p.(Asp311Asn)" "" "0000784421" "00000238" "50" "1405" "9" "1405" "9" "c.1405+9A>G" "r.(=)" "p.(=)" "" "0000784433" "00000238" "50" "1538" "0" "1538" "0" "c.1538A>C" "r.(?)" "p.(Lys513Thr)" "" "0000784443" "00000238" "50" "1405" "9" "1405" "9" "c.1405+9A>G" "r.(=)" "p.(=)" "" "0000784445" "00000238" "50" "1405" "9" "1405" "9" "c.1405+9A>G" "r.(=)" "p.(=)" "" "0000784450" "00000238" "50" "1436" "0" "1436" "0" "c.1436C>T" "r.(?)" "p.(Thr479Met)" "" "0000784454" "00000238" "50" "1405" "9" "1405" "9" "c.1405+9A>G" "r.(=)" "p.(=)" "" "0000784530" "00000238" "50" "1108" "0" "1108" "0" "c.1108G>A" "r.(?)" "p.(Ala370Thr)" "" "0000784534" "00000238" "50" "1405" "9" "1405" "9" "c.1405+9A>G" "r.(=)" "p.(=)" "" "0000784553" "00000238" "50" "1405" "9" "1405" "9" "c.1405+9A>G" "r.(=)" "p.(=)" "" "0000784554" "00000238" "50" "1405" "9" "1405" "9" "c.1405+9A>G" "r.(=)" "p.(=)" "" "0000785532" "00000238" "90" "962" "0" "962" "0" "c.962C>T" "r.(?)" "p.(Ala321Val)" "" "0000785539" "00000238" "50" "595" "0" "597" "0" "c.595_597del" "r.(?)" "p.(Phe199del)" "" "0000786337" "00000238" "90" "968" "0" "968" "0" "c.968A>G" "r.(?)" "p.(Lys323Arg)" "" "0000786458" "00000238" "90" "962" "0" "962" "0" "c.962C>T" "r.(?)" "p.(Ala321Val)" "" "0000788541" "00000238" "70" "931" "0" "931" "0" "c.931G>A" "r.(?)" "p.(Asp311Asn)" "10" "0000789690" "00000238" "90" "923" "0" "923" "0" "c.?" "r.(?)" "p.?" "9" "0000790526" "00000238" "50" "1598" "0" "1598" "0" "c.1598A>G" "r.(?)" "p.(Gln533Arg)" "" "0000790549" "00000238" "50" "1057" "0" "1057" "0" "c.1057G>A" "r.(?)" "p.(Val353Ile)" "" "0000790562" "00000238" "50" "1074" "6" "1074" "7" "c.1074+6_1074+7delinsTT" "r.spl?" "p.?" "" "0000790571" "00000238" "50" "569" "0" "569" "0" "c.569G>T" "r.(?)" "p.(Arg190Leu)" "" "0000791163" "00000238" "50" "713" "0" "713" "0" "c.713A>G" "r.(?)" "p.(Lys238Arg)" "8" "0000791174" "00000238" "70" "809" "0" "809" "0" "c.809T>G" "r.(?)" "p.(Leu270Arg)" "9" "0000791234" "00000238" "70" "809" "0" "809" "0" "c.809T>G" "r.(?)" "p.(Leu270Arg)" "9" "0000791428" "00000238" "70" "585" "0" "585" "0" "c.585T>G" "r.(?)" "p.(Phe195Leu)" "8" "0000791429" "00000238" "70" "809" "0" "809" "0" "c.809T>G" "r.(?)" "p.(Leu270Arg)" "9" "0000791430" "00000238" "70" "926" "0" "926" "0" "c.926G>C" "r.(?)" "p.(Arg309Pro)" "10" "0000791431" "00000238" "70" "926" "0" "926" "0" "c.926G>C" "r.(?)" "p.(Arg309Pro)" "10" "0000791432" "00000238" "70" "931" "0" "931" "0" "c.931G>A" "r.(?)" "p.(Asp311Asn)" "10" "0000791433" "00000238" "70" "962" "0" "962" "0" "c.962C>T" "r.(?)" "p.(Ala321Val)" "10" "0000791586" "00000238" "70" "590" "0" "590" "0" "c.590A>C" "r.(?)" "p.(Gln197Pro)" "8" "0000794087" "00000238" "70" "147" "-2" "147" "-2" "c.147-2A>G" "r.spl?" "p.?" "" "0000794330" "00000238" "90" "931" "0" "931" "0" "c.931G>A" "r.(?)" "p.(Asp311Asn)" "10" "0000794331" "00000238" "70" "984" "0" "984" "0" "c.984G>C" "r.(?)" "p.(Gln328His)" "10" "0000795976" "00000238" "70" "592" "0" "592" "0" "c.592G>T" "r.(?)" "p.(Gly198Cys)" "7" "0000796952" "00000238" "70" "931" "0" "931" "0" "c.931G>A" "r.(?)" "p.(Asp311Asn)" "9" "0000797687" "00000238" "70" "402" "1" "402" "1" "c.402+1G>T" "r.spl" "p.(?)" "" "0000797688" "00000238" "70" "962" "0" "962" "0" "c.962C>T" "r.(?)" "p.(Ala321Val)" "" "0000797754" "00000238" "70" "" "0" "" "0" "c.(?_-1)_(*1_?)del" "r.(?)" "p.(?)" "" "0000798016" "00000238" "50" "1598" "0" "1598" "0" "c.1598A>G" "r.(?)" "p.(Gln533Arg)" "" "0000798018" "00000238" "50" "978" "0" "978" "0" "c.978G>C" "r.(?)" "p.(Gln326His)" "" "0000802892" "00000238" "50" "833" "0" "833" "0" "c.833C>T" "r.(?)" "p.(Thr278Met)" "" "0000811416" "00000238" "70" "942" "0" "942" "0" "c.942G>T" "r.(?)" "p.(Lys314Asn)" "" "0000812702" "00000238" "70" "727" "0" "727" "0" "c.727G>A" "r.(?)" "p.(Val243Ile)" "" "0000812741" "00000238" "70" "1701" "0" "1701" "0" "c.1701G>A" "r.(?)" "p.(Met567Ile)" "" "0000813671" "00000238" "70" "836" "0" "836" "0" "c.836T>C" "r.(?)" "p.(Leu279Ser)" "" "0000815475" "00000238" "50" "1057" "0" "1057" "0" "c.1057G>A" "r.(?)" "p.(Val353Ile)" "" "0000815587" "00000238" "50" "967" "0" "967" "0" "c.967A>G" "r.(?)" "p.(Lys323Glu)" "" "0000815627" "00000238" "50" "1598" "0" "1598" "0" "c.1598A>G" "r.(?)" "p.(Gln533Arg)" "" "0000815934" "00000238" "70" "967" "0" "967" "0" "c.967A>G" "r.(?)" 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"p.(Leu329=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 209 "{{screeningid}}" "{{variantid}}" "0000000209" "0000004543" "0000033224" "0000059939" "0000050526" "0000079506" "0000096324" "0000158317" "0000208642" "0000438564" "0000233949" "0000476657" "0000233950" "0000476658" "0000233951" "0000476659" "0000233952" "0000476660" "0000233953" "0000476661" "0000233954" "0000476662" "0000233955" "0000476663" "0000233956" "0000476664" "0000233957" "0000476665" "0000233958" "0000476666" "0000233959" "0000476667" "0000233960" "0000476668" "0000233961" "0000476669" "0000233962" "0000476670" "0000233963" "0000476671" "0000233964" "0000476672" "0000233965" "0000476673" "0000300751" "0000663585" "0000309658" "0000684531" "0000309659" "0000684532" "0000309660" "0000684533" "0000310340" "0000685251" "0000327898" "0000711691" "0000333267" "0000730691" "0000334570" "0000732423" "0000334629" "0000732561" "0000334630" "0000732562" "0000335198" "0000733207" 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