### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = BBS10) # 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}}" "BBS10" "Bardet-Biedl syndrome 10" "12" "q21.2" "unknown" "NG_016357.1" "UD_132118229011" "" "https://www.LOVD.nl/BBS10" "GeneCards \r\nGeneTests " "1" "26291" "79738" "610148" "1" "1" "1" "1" "This database is one of the \"Eye disease\" gene variant databases.\r\nEstablishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/BBS10_codingDNA.html" "1" "" "This database is one of the \"Eye disease\" gene variant databases." "-1" "" "-1" "00001" "2012-03-28 00:00:00" "00006" "2020-11-11 19:49:11" "00000" "2025-05-05 21:14:00" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00003294" "BBS10" "Bardet-Biedl syndrome 10" "001" "NM_024685.3" "" "NP_078961.3" "" "" "" "-84" "3499" "2172" "76742222" "76738266" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 7 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01287" "IDDM2" "diabetes mellitus, insulin-dependent, type 2 (IDDM2)" "AD" "125852" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-02-15 10:39:19" "04212" "BBS" "Bardet-Biedl syndrome (BBS)" "" "" "" "" "" "00006" "2015-02-27 19:01:43" "" "" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "04222" "PKD" "kidney disease, polycystic (PKD)" "" "" "" "" "" "00006" "2015-03-13 11:12:15" "00006" "2017-11-15 22:09:51" "04374" "BBS10" "Bardet-Biedl syndrome, type 10 (BBS-10)" "AR" "615987" "" "" "" "00000" "2015-09-23 10:25:22" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "BBS10" "00139" "BBS10" "04374" ## Individuals ## Do not remove or alter this header ## ## Count = 307 "{{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}}" "00024245" "" "" "" "3" "" "00705" "{PMID:Lim 2014:25439097}, {DOI:Lim 2014:10.1016/j.ajhg.2014.09.015}" "" "-" "?" "Finland" "" "0" "" "" "Finnish" "" "00034031" "" "" "" "1" "" "00006" "{PMID:Waters 2015:25564561}, {DOI:Waters 2015:10.1136/jmedgenet-2014-102691}" "" "" "" "" "" "0" "" "" "" "" "00034034" "" "" "" "1" "" "00006" "{PMID:Waters 2015:25564561}, {DOI:Waters 2015:10.1136/jmedgenet-2014-102691}" "" "" "" "" "" "0" "" "" "" "" "00063269" "" "" "" "1" "" "01581" "" "" "" "" "" "" "0" "" "" "" "" "00095110" "" "" "" "1" "" "01586" "" "" "" "?" "" "" "0" "Yes" "" "" "" "00229590" "" "" "" "1" "" "01807" "" "" "M" "" "" "" "0" "" "" "" "" "00290796" "" "" "" "6" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295444" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00308476" "" "" "" "1" "" "00004" "{PMID:Holtan 2020:31429209}" "1 patient with variant in heterozygous or compound heterozygous form" "" "" "Norway" "" "0" "" "" "" "" "00308477" "" "" "" "1" "" "00004" "{PMID:Holtan 2020:31429209}" "1 patient with variant in heterozygous or compound heterozygous form" "" "" "Norway" "" "0" "" "" "" "" "00308638" "" "" "" "6" "" "00004" "{PMID:Holtan 2020:31429209}" "6 homozygous patients" "" "" "Norway" "" "0" "" "" "" "" "00308957" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" "" "00325434" "" "" "" "1" "" "00006" "{PMID:Zenteno 2020:31736247}" "family" "" "" "Mexico" "" "0" "" "" "" "2405" "00328048" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "Europe" "G001418" "00333810" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "M" "" "(United States)" "" "0" "" "" "" "6" "00334082" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "F" "" "(United States)" "" "0" "" "" "" "611" "00334083" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "M" "" "(United States)" "" "0" "" "" "" "612" "00358813" "" "" "" "1" "" "00000" "{PMID:Lindstrand 2016:27486776}" "" "M" "no" "United States" "" "0" "" "" "" "AR246-03" "00358816" "" "" "" "1" "" "00000" "{PMID:Lindstrand 2016:27486776}" "" "M" "no" "United States" "" "0" "" "" "" "AR883-04" "00358818" "" "" "" "1" "" "00000" "{PMID:Lindstrand 2016:27486776}" "" "F" "no" "United States" "" "0" "" "" "" "AR704-0311" "00358964" "" "" "" "1" "" "00000" "{PMID:Tiwari 2016:27353947}" "see paper" "M" "" "Switzerland" "" "0" "" "" "" "Case72007" "00358970" "" "" "" "1" "" "00000" "{PMID:Tiwari 2016:27353947}" "see paper" "F" "" "Switzerland" "" "0" "" "" "" "Case71161" "00359029" "" "" "" "1" "" "00000" "{PMID:Ellingford 2016:27208204}" "patient" "" "" "" "" "0" "" "" "" "13000378" "00359384" "" "" "" "1" "" "00000" "{PMID:Bravo-Gil 2016:27032803}" "see paper" "" "" "Spain" "" "0" "" "" "" "519" "00363425" "" "" "" "1" "" "00000" "{PMID:Ece Solmaz 2015:26518167}" "patient" "" "" "Turkey" "" "0" "" "" "" "Pat1" "00363428" "" "" "" "1" "" "00000" "{PMID:Ece Solmaz 2015:26518167}" "patient" "" "" "Turkey" "" "0" "" "" "" "Pat4" "00363431" "" "" "" "1" "" "00000" "{PMID:Ece Solmaz 2015:26518167}" "patient" "" "" "Turkey" "" "0" "" "" "" "Pat7" "00363436" "" "" "" "1" "" "00000" "{PMID:Ece Solmaz 2015:26518167}" "patient" "" "" "Turkey" "" "0" "" "" "" "Pat12" "00363711" "" "" "" "1" "" "00000" "{PMID:Patel 2016:26355662}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "12DG2094" "00363748" "" "" "" "1" "" "00000" "{PMID:Patel 2016:26355662}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "14DG1145" "00373878" "" "" "" "1" "" "00000" "{PMID:Consugar 2015:25412400}" "" "" "" "United States" "" "0" "" "" "" "OGI-430-914" "00373879" "" "" "" "1" "" "00000" "{PMID:Consugar 2015:25412400}" "" "" "" "United States" "" "0" "" "" "" "OGI-430-915" "00373952" "" "" "" "1" "" "00000" "{PMID:Pierrottet 2014:25366773}" "" "" "" "Italy" "" "0" "" "" "" "P43" "00379369" "" "" "" "1" "" "00000" "{PMID:Harville-2010:19797195}" "" "" "yes" "Turkey" "" "0" "" "" "" "" "00379538" "" "" "" "1" "" "03508" "" "" "M" "" "Korea, South (Republic)" "" "" "" "" "" "IR_SS_0061" "00379811" "" "" "" "1" "" "00000" "{PMID:Wang 2018:30029497}" "" "M" "?" "China" "" "0" "" "" "Han Chinese" "2016090902" "00380355" "" "" "" "1" "" "00000" "{PMID:M\'hamdi_2014:23432027}" "" "M" "yes" "Tunisia" "" "0" "" "" "Tunisian" "" "00382215" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "44" "00382216" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "45" "00382350" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "179" "00382486" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "348" "00382602" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "465" "00383074" "" "" "" "1" "" "00000" "{PMID:Anasagasti-2013:24416769}" "" "" "" "Spain" "" "0" "" "" "" "" "00383081" "" "" "" "1" "" "00000" "{PMID:Anasagasti-2013:24416769}" "" "" "" "Spain" "" "0" "" "" "" "" "00383125" "" "" "" "1" "" "00000" "{PMID:Laurier-2006:16823392}" "" "F" "yes" "Lebanon" "" "0" "" "" "Muslim Sunni" "" "00383126" "" "" "" "1" "" "00000" "{PMID:Laurier-2006:16823392}" "" "F" "yes" "Lebanon" "" "0" "" "" "Muslim Sunni" "" "00383127" "" "" "" "1" "" "00000" "{PMID:Laurier-2006:16823392}" "" "F" "yes" "Lebanon" "" "0" "" "" "Muslim Sunni" "" "00383128" "" "" "" "1" "" "00000" "{PMID:Laurier-2006:16823392}" "" "M" "yes" "Lebanon" "" "0" "" "" "Muslim Sunni" "" "00383131" "" "" "" "1" "" "00000" "{PMID:Laurier-2006:16823392}" "" "M" "yes" "Lebanon" "" "0" "" "" "Muslim Sunni" "" "00383134" "" "" "" "1" "" "00000" "{PMID:Sathya Priya-2015:24400638}" "" "" "" "" "" "0" "" "" "" "" "00383139" "" "" "" "1" "" "00000" "{PMID:Sathya Priya-2015:24400638}" "" "" "" "" "" "0" "" "" "" "" "00383155" "" "" "" "1" "" "00000" "{PMID:Sathya Priya-2015:24400638}" "" "" "" "" "" "0" "" "" "" "" "00383186" "" "" "" "1" "" "00000" "{PMID:Gerth-2008:17980398}" "" "F" "" "" "" "0" "" "" "" "" "00383188" "" "" "" "1" "" "00000" "{PMID:Gerth-2008:17980398}" "" "F" "" "" "" "0" "" "" "" "" "00383189" "" "" "" "1" "" "00000" "{PMID:Gerth-2008:17980398}" "" "M" "" "" "" "0" "" "" "" "" "00383193" "" "" "" "1" "" "00000" "{PMID:Gerth-2008:17980398}" "" "M" "" "" "" "0" "" "" "" "" "00383200" "" "" "" "1" "" "00000" "{PMID:Leitch-2008:18327255}" "" "M" "" "" "" "0" "" "" "Lebanese" "" "00383201" "" "" "" "1" "" "00000" "{PMID:Leitch-2008:18327255}" "" "M" "" "" "" "0" "" "" "Saudi Arabian" "" "00383247" "" "" "" "1" "" "00000" "{PMID:Muller-2010:20177705}" "" "" "" "" "" "0" "" "" "white" "" "00383249" "" "" "" "1" "" "00000" "{PMID:Muller-2010:20177705}, {PMID:Stoetzel 2006:16582908}" "" "" "" "" "" "0" "" "" "Lebanese" "" "00383250" "" "" "" "1" "" "00000" "{PMID:Muller-2010:20177705}, {PMID:Stoetzel 2006; 17160889}, {PMID:Stoetzel 2007:16582908}" "" "" "" "" "" "0" "" "" "white" "" "00383251" "" "" "" "1" "" "00000" "{PMID:Muller-2010:20177705}, {PMID:Stoetzel 2006:16582908}" "" "" "" "" "" "0" "" "" "white" "" "00383252" "" "" "" "1" "" "00000" "{PMID:Muller-2010:20177705}, {PMID:Stoetzel 2006:16582908}" "" "" "" "" "" "0" "" "" "Newfoundland" "" "00383253" "" "" "" "1" "" "00000" "{PMID:Muller-2010:20177705}, {PMID:Stoetzel 2006:16582908}" "" "" "" "" "" "0" "" "" "white" "" "00383254" "" "" "" "1" "" "00000" "{PMID:Muller-2010:20177705}, {PMID:Stoetzel 2006:16582908}" "" "" "" "" "" "0" "" "" "Lebanese" "" "00383255" "" "" "" "1" "" "00000" "{PMID:Muller-2010:20177705}, {PMID:Stoetzel 2006:16582908}" "" "" "" "" "" "0" "" "" "white" "" "00383256" "" "" "" "1" "" "00000" "{PMID:Muller-2010:20177705}, {PMID:Stoetzel 2006:16582908}" "" "" "" "" "" "0" "" "" "C Newfoundland" "" "00383257" "" "" "" "5" "" "00000" "{PMID:Muller-2010:20177705}, {PMID:Stoetzel 2006:16582908}" "" "" "" "" "" "0" "" "" "white" "" "00383258" "" "" "" "1" "" "00000" "{PMID:Muller-2010:20177705}, {PMID:Stoetzel 2006:16582908}" "" "" "" "" "" "0" "" "" "white" "" "00383259" "" "" "" "1" "" "00000" "{PMID:Muller-2010:20177705}, {PMID:Stoetzel 2006:16582908}" "" "" "" "" "" "0" "" "" "white" "" "00383260" "" "" "" "2" "" "00000" "{PMID:Muller-2010:20177705}, {PMID:Stoetzel 2006:16582908}" "" "" "" "" "" "0" "" "" "white" "" "00383261" "" "" "" "1" "" "00000" "{PMID:Muller-2010:20177705}, {PMID:Stoetzel 2006:16582908}" "" "" "" "" "" "0" "" "" "white" "" "00383262" "" "" "" "1" "" "00000" "{PMID:Muller-2010:20177705}, {PMID:Stoetzel 2006:16582908}" "" "" "" "" "" "0" "" "" "white" "" "00383263" "" "" "" "4" "" "00000" "{PMID:Muller-2010:20177705}, {PMID:Stoetzel 2006:16582908}" "" "" "" "" "" "0" "" "" "Newfoundland" "" "00383264" "" "" "" "1" "" "00000" "{PMID:Muller-2010:20177705}, {PMID:Stoetzel 2006:16582908}" "" "" "" "" "" "0" "" "" "North Africa" "" "00383265" "" "" "" "1" "" "00000" "{PMID:Muller-2010:20177705}, {PMID:Stoetzel 2006:16582908}" "" "" "" "" "" "0" "" "" "Portugese" "" "00383266" "" "" "" "1" "" "00000" "{PMID:Muller-2010:20177705}, {PMID:Stoetzel 2006:16582908}" "" "" "" "" "" "0" "" "" "North Africa" "" "00383267" "" "" "" "10" "" "00000" "{PMID:Muller-2010:20177705}, {PMID:Stoetzel 2006:16582908}" "" "" "" "" "" "0" "" "" "Lebanese" "" "00383268" "" "" "" "1" "" "00000" "{PMID:Muller-2010:20177705}, {PMID:Stoetzel 2006:16582908}" "" "" "" "" "" "0" "" "" "white" "" "00383269" "" "" "" "1" "" "00000" "{PMID:Muller-2010:20177705}, {PMID:Stoetzel 2006:16582908}" "" "" "" "" "" "0" "" "" "white" "" "00383270" "" "" "" "1" "" "00000" "{PMID:Muller-2010:20177705}, {PMID:Stoetzel 2006:16582908}" "" "" "" "" "" "0" "" "" "Portugese" "" "00383284" "" "" "" "1" "" "00000" "{PMID:Duelund Hjortshoj-2010:20120035}" "" "F" "" "" "" "0" "" "" "" "" "00383285" "" "" "" "1" "" "00000" "{PMID:Duelund Hjortshoj-2010:20120035}" "" "F" "" "" "" "0" "" "" "" "" "00383288" "" "" "" "1" "" "00000" "{PMID:Duelund Hjortshoj-2010:20120035}" "" "" "" "" "" "0" "" "" "" "" "00383290" "" "" "" "1" "" "00000" "{PMID:Duelund Hjortshoj-2010:20120035}" "" "" "" "" "" "0" "" "" "" "" "00383291" "" "" "" "1" "" "00000" "{PMID:Duelund Hjortshoj-2010:20120035}" "" "" "" "" "" "0" "" "" "" "" "00383295" "" "" "" "1" "" "00000" "{PMID:Duelund Hjortshoj-2010:20120035}" "" "M" "" "" "" "0" "" "" "" "" "00383297" "" "" "" "1" "" "00000" "{PMID:Duelund Hjortshoj-2010:20120035}" "" "M" "" "" "" "0" "" "" "" "" "00383316" "" "" "" "1" "" "00000" "{PMID:Duelund Hjortshoj-2010:20120035}" "" "" "" "" "" "0" "" "" "" "" "00383317" "" "" "" "1" "" "00000" "{PMID:Duelund Hjortshoj-2010:20120035}" "" "" "" "" "" "0" "" "" "" "" "00383653" "" "" "" "1" "" "00000" "{PMID:Manara 2019:31196119}" "" "M" "" "" "" "0" "" "" "" "2" "00383656" "" "" "" "1" "" "00000" "{PMID:Manara 2019:31196119}" "" "M" "" "" "" "0" "" "" "" "5" "00383658" "" "" "" "1" "" "00000" "{PMID:Manara 2019:31196119}" "" "F" "" "" "" "0" "" "" "" "7" "00383659" "" "" "" "1" "" "00000" "{PMID:Manara 2019:31196119}" "" "M" "" "" "" "0" "" "" "" "8" "00383661" "" "" "" "1" "" "00000" "{PMID:Manara 2019:31196119}" "" "M" "" "" "" "0" "" "" "" "10" "00384639" "" "" "" "1" "" "00000" "{PMID:Atmis 2019:31951329}" "" "F" "" "Turkey" "" "0" "" "" "" "2" "00384640" "" "" "" "1" "" "00000" "{PMID:Atmis 2019:31951329}" "" "F" "" "Turkey" "" "0" "" "" "" "3" "00384641" "" "" "" "1" "" "00000" "{PMID:Atmis 2019:31951329}" "" "M" "" "Turkey" "" "0" "" "" "" "4" "00384642" "" "" "" "1" "" "00000" "{PMID:Atmis 2019:31951329}" "" "M" "" "Turkey" "" "0" "" "" "" "5" "00384643" "" "" "" "1" "" "00000" "{PMID:Atmis 2019:31951329}" "" "F" "" "Turkey" "" "0" "" "" "" "6" "00384685" "" "" "" "1" "" "00000" "{PMID:Feuillan-2011:21209035}" "" "" "" "" "" "0" "" "" "" "" "00384686" "" "" "" "1" "" "00000" "{PMID:Feuillan-2011:21209035}" "" "" "" "" "" "0" "" "" "" "" "00384687" "" "" "" "1" "" "00000" "{PMID:Feuillan-2011:21209035}" "" "" "" "" "" "0" "" "" "" "" "00384688" "" "" "" "1" "" "00000" "{PMID:Feuillan-2011:21209035}" "" "" "" "" "" "0" "" "" "" "" "00384689" "" "" "" "1" "" "00000" "{PMID:Feuillan-2011:21209035}" "" "" "" "" "" "0" "" "" "" "" "00384690" "" "" "" "1" "" "00000" "{PMID:Feuillan-2011:21209035}" "" "" "" "" "" "0" "" "" "" "" "00384691" "" "" "" "1" "" "00000" "{PMID:Feuillan-2011:21209035}" "" "" "" "" "" "0" "" "" "" "" "00384692" "" "" "" "1" "" "00000" "{PMID:Feuillan-2011:21209035}" "" "" "" "" "" "0" "" "" "" "" "00384693" "" "" "" "1" "" "00000" "{PMID:Feuillan-2011:21209035}" "" "" "" "" "" "0" "" "" "" "" "00384694" "" "" "" "1" "" "00000" "{PMID:Feuillan-2011:21209035}" "" "" "" "" "" "0" "" "" "" "" "00384695" "" "" "" "1" "" "00000" "{PMID:Feuillan-2011:21209035}" "" "" "" "" "" "0" "" "" "" "" "00384696" "" "" "" "1" "" "00000" "{PMID:Feuillan-2011:21209035}" "" "" "" "" "" "0" "" "" "" "" "00384697" "" "" "" "1" "" "00000" "{PMID:Feuillan-2011:21209035}" "" "" "" "" "" "0" "" "" "" "" "00384698" "" "" "" "1" "" "00000" "{PMID:Feuillan-2011:21209035}" "" "" "" "" "" "0" "" "" "" "" "00384699" "" "" "" "1" "" "00000" "{PMID:Feuillan-2011:21209035}" "" "" "" "" "" "0" "" "" "" "" "00384700" "" "" "" "1" "" "00000" "{PMID:Feuillan-2011:21209035}" "" "" "" "" "" "0" "" "" "" "" "00384708" "" "" "" "1" "" "00000" "{PMID:Billingsley-2010:20472660}" "" "" "" "" "" "0" "" "" "Polish" "" "00384709" "" "" "" "1" "" "00000" "{PMID:Billingsley-2010:20472660}" "" "F" "" "" "" "0" "" "" "British/Irish/Scottish" "" "00384710" "" "" "" "1" "" "00000" "{PMID:Billingsley-2010:20472660}" "" "F" "" "" "" "0" "" "" "British/Irish/Scottish" "" "00384711" "" "" "" "1" "" "00000" "{PMID:Billingsley-2010:20472660}" "" "" "" "" "" "0" "" "" "German/Italian" "" "00384712" "" "" "" "1" "" "00000" "{PMID:Billingsley-2010:20472660}" "" "F" "" "" "" "0" "" "" "Polish" "" "00384713" "" "" "" "1" "" "00000" "{PMID:Billingsley-2010:20472660}" "" "F" "" "" "" "0" "" "" "Irish" "" "00384714" "" "" "" "1" "" "00000" "{PMID:Billingsley-2010:20472660}" "" "F" "" "" "" "0" "" "" "Turkish" "" "00384715" "" "" "" "1" "" "00000" "{PMID:Billingsley-2010:20472660}" "" "M" "" "" "" "0" "" "" "English/Irish/German/Norwegian" "" "00384717" "" "" "" "1" "" "00000" "{PMID:Billingsley-2010:20472660}" "" "M" "" "" "" "0" "" "" "South African Black" "" "00384721" "" "" "" "1" "" "00000" "{PMID:Billingsley-2010:20472660}" "" "M" "" "" "" "0" "" "" "Brit/Fr/German" "" "00384722" "" "" "" "1" "" "00000" "{PMID:Billingsley-2010:20472660}" "" "F" "" "" "" "0" "" "" "British" "" "00384723" "" "" "" "1" "" "00000" "{PMID:Billingsley-2010:20472660}" "" "F" "" "" "" "0" "" "" "British" "" "00384724" "" "" "" "1" "" "00000" "{PMID:Billingsley-2010:20472660}" "" "M" "" "" "" "0" "" "" "Danish/Dutch/Norwegian" "" "00384725" "" "" "" "1" "" "00000" "{PMID:Billingsley-2010:20472660}" "" "F" "" "" "" "0" "" "" "Jamaican/Pakistani/English" "" "00384735" "" "" "" "1" "" "00000" "{PMID:Billingsley-2010:20472660}" "" "" "" "" "" "0" "" "" "British/Irish/Scottish" "" "00384736" "" "" "" "1" "" "00000" "{PMID:Billingsley-2010:20472660}" "" "" "" "" "" "0" "" "" "Pakistani" "" "00384792" "" "" "" "1" "" "00000" "{PMID:Abu-Safieh-2012:22353939}, Abu-Safieh 2010" "1 unaffected siblings screened" "" "yes" "Saudi Arabia" "" "0" "" "" "Arab" "" "00384808" "" "" "" "1" "" "00000" "{PMID:Abu-Safieh-2012:22353939}" "2 unaffected siblings screened" "" "yes" "Saudi Arabia" "" "0" "" "" "Arab" "" "00384828" "" "" "" "1" "" "00000" "{PMID:Abu-Safieh-2012:22353939}" "1 unaffected siblings screened" "" "yes" "Saudi Arabia" "" "0" "" "" "Arab" "" "00384835" "" "" "" "1" "" "00000" "{PMID:Abu-Safieh-2012:22353939}, Stoetzel 2006" "3 unaffected siblings screened" "" "yes" "Saudi Arabia" "" "0" "" "" "Arab" "" "00384836" "" "" "" "1" "" "00000" "{PMID:Abu-Safieh-2012:22353939}, Stoetzel 2006" "3 unaffected siblings screened" "" "yes" "Saudi Arabia" "" "0" "" "" "Arab" "" "00384837" "" "" "" "1" "" "00000" "{PMID:Abu-Safieh-2012:22353939}, Stoetzel 2006" "3 unaffected siblings screened" "" "yes" "Saudi Arabia" "" "0" "" "" "Arab" "" "00385100" "" "" "" "1" "" "00000" "{PMID:Chakrabarty 2020:31639430}" "" "M" "" "India" "" "0" "" "" "" "II:1" "00385101" "" "" "" "1" "" "00000" "{PMID:Chakrabarty 2020:31639430}" "" "M" "" "India" "" "0" "" "" "" "II:2" "00385181" "" "" "" "1" "" "00000" "{PMID:Chen-2011:21642631}" "" "" "" "" "" "0" "" "" "white" "" "00385182" "" "" "" "1" "" "00000" "{PMID:Chen-2011:21642631}" "" "" "" "" "" "0" "" "" "white" "" "00385183" "" "" "" "1" "" "00000" "{PMID:Chen-2011:21642631}" "" "" "" "" "" "0" "" "" "white" "" "00385202" "" "" "" "1" "" "00000" "{PMID:Chen-2011:21642631}" "" "" "" "" "" "0" "" "" "white" "" "00385203" "" "" "" "1" "" "00000" "{PMID:Chen-2011:21642631}" "" "" "" "" "" "0" "" "" "white" "" "00385204" "" "" "" "1" "" "00000" "{PMID:Chen-2011:21642631}" "" "" "" "" "" "0" "" "" "white" "" "00385205" "" "" "" "1" "" "00000" "{PMID:Chen-2011:21642631}" "" "" "" "" "" "0" "" "" "white" "" "00385206" "" "" "" "1" "" "00000" "{PMID:Chen-2011:21642631}" "" "" "" "" "" "0" "" "" "white" "" "00385207" "" "" "" "1" "" "00000" "{PMID:Chen-2011:21642631}" "" "" "" "" "" "0" "" "" "white" "" "00385208" "" "" "" "1" "" "00000" "{PMID:Chen-2011:21642631}" "" "" "" "" "" "0" "" "" "white" "" "00385209" "" "" "" "1" "" "00000" "{PMID:Chen-2011:21642631}" "" "" "" "" "" "0" "" "" "white" "" "00385210" "" "" "" "1" "" "00000" "{PMID:Chen-2011:21642631}" "" "" "" "" "" "0" "" "" "white" "" "00385211" "" "" "" "1" "" "00000" "{PMID:Chen-2011:21642631}" "" "" "" "" "" "0" "" "" "white" "" "00385212" "" "" "" "1" "" "00000" "{PMID:Chen-2011:21642631}" "" "" "" "" "" "0" "" "" "white" "" "00385233" "" "" "" "1" "" "00000" "{PMID:Redin-2012:22773737}" "" "" "" "" "" "0" "" "" "" "" "00385243" "" "" "" "1" "" "00000" "{PMID:Redin-2012:22773737}" "" "" "" "" "" "0" "" "" "" "" "00385244" "" "" "" "1" "" "00000" "{PMID:Redin-2012:22773737}" "" "" "" "" "" "0" "" "" "" "" "00385245" "" "" "" "1" "" "00000" "{PMID:Redin-2012:22773737}" "" "" "" "" "" "0" "" "" "" "" "00385256" "" "" "" "1" "" "00000" "{PMID:Redin-2012:22773737}" "" "" "" "Tunisia" "" "0" "" "" "" "" "00385258" "" "" "" "1" "" "00000" "{PMID:Schaefer-2011:21044901}" "" "" "" "France" "" "0" "" "" "french" "" "00385260" "" "" "" "1" "" "00000" "{PMID:Schaefer-2011:21044901}" "" "" "" "France" "" "0" "" "" "french" "" "00385261" "" "" "" "1" "" "00000" "{PMID:Schaefer-2011:21044901}" "" "" "" "France" "" "0" "" "" "french" "" "00385287" "" "" "" "1" "" "00000" "{PMID:M\'hamdi-2014:23432027}" "" "M" "yes" "Tunisia" "" "0" "" "" "Tunisian" "" "00385308" "" "" "" "1" "" "00000" "{PMID:Imhoff-2011:20876674}" "" "" "" "" "" "0" "" "" "South African Black/European/Asian" "" "00385309" "" "" "" "1" "" "00000" "{PMID:Imhoff-2011:20876674}" "additional mutation" "" "" "" "" "0" "" "" "British" "" "00385310" "" "" "" "1" "" "00000" "{PMID:Imhoff-2011:20876674}" "" "" "" "" "" "0" "" "" "British" "" "00385311" "" "" "" "1" "" "00000" "{PMID:Imhoff-2011:20876674}" "additional mutation" "" "yes" "" "" "0" "" "" "Pakistani" "" "00385312" "" "" "" "1" "" "00000" "{PMID:Imhoff-2011:20876674}" "additional mutation" "" "" "" "" "0" "" "" "Ghanian" "" "00385323" "" "" "" "1" "" "00000" "{PMID:Deveault-2011:21344540}" "" "F" "" "" "" "0" "" "" "Russian" "" "00385324" "" "" "" "1" "" "00000" "{PMID:Deveault-2011:21344540}" "" "F" "" "" "" "0" "" "" "Italian" "" "00385356" "" "" "" "1" "" "00000" "{PMID:Deveault-2011:21344540}" "" "M" "" "" "" "0" "" "" "French" "" "00385357" "" "" "" "1" "" "00000" "{PMID:Deveault-2011:21344540}" "" "F" "" "" "" "0" "" "" "French" "" "00385358" "" "" "" "1" "" "00000" "{PMID:Deveault-2011:21344540}" "" "F" "" "" "" "0" "" "" "French" "" "00385359" "" "" "" "1" "" "00000" "{PMID:Deveault-2011:21344540}" "" "" "" "" "" "0" "" "" "French" "" "00385360" "" "" "" "1" "" "00000" "{PMID:Deveault-2011:21344540}" "" "F" "" "" "" "0" "" "" "Swiss" "" "00385361" "" "" "" "1" "" "00000" "{PMID:Deveault-2011:21344540}" "" "F" "yes" "" "" "0" "" "" "Croatian" "" "00385362" "" "" "" "1" "" "00000" "{PMID:Deveault-2011:21344540}" "" "F" "yes" "" "" "0" "" "" "Pakistani" "" "00385363" "" "" "" "1" "" "00000" "{PMID:Deveault-2011:21344540}" "" "M" "yes" "" "" "0" "" "" "Dene" "" "00385364" "" "" "" "1" "" "00000" "{PMID:Deveault-2011:21344540}" "" "M" "yes" "" "" "0" "" "" "Dene" "" "00385365" "" "" "" "1" "" "00000" "{PMID:Deveault-2011:21344540}" "novel" "" "yes" "" "" "0" "" "" "Somalian" "" "00385366" "" "" "" "1" "" "00000" "{PMID:Deveault-2011:21344540}" "" "F" "yes" "" "" "0" "" "" "Iraqi" "" "00385367" "" "" "" "1" "" "00000" "{PMID:Deveault-2011:21344540}" "" "M" "yes" "" "" "0" "" "" "Iraqi" "" "00385368" "" "" "" "1" "" "00000" "{PMID:Deveault-2011:21344540}" "" "M" "yes" "" "" "0" "" "" "Somalian" "" "00385369" "" "" "" "1" "" "00000" "{PMID:Deveault-2012:21344540}" "" "" "" "" "" "0" "" "" "Portuguese" "" "00385370" "" "" "" "1" "" "00000" "{PMID:Deveault-2011:21344540}" "" "F" "yes" "" "" "0" "" "" "Arabic" "" "00385371" "" "" "" "1" "" "00000" "{PMID:Deveault-2011:21344540}" "novel" "M" "yes" "" "" "0" "" "" "Italian" "" "00385372" "" "" "" "1" "" "00000" "{PMID:Deveault-2011:21344540}" "" "" "" "" "" "0" "" "" "Polish" "" "00385373" "" "" "" "1" "" "00000" "{PMID:Deveault-2011:21344540}" "" "M" "" "" "" "0" "" "" "Turkish" "" "00385375" "" "" "" "1" "" "00000" "{PMID:Deveault-2011:21344540}" "" "" "" "" "" "0" "" "" "Danish/Dutch/Norwegian" "" "00385389" "" "" "" "1" "" "00000" "{PMID:Dulfer-2010:20827784}" "" "M" "" "" "" "0" "" "" "French" "" "00385390" "" "" "" "1" "" "00000" "{PMID:Dulfer-2010:20827784}" "" "M" "" "" "" "0" "" "" "French" "" "00385560" "" "" "" "1" "" "00000" "{PMID:Janssen-2011:21052717}" "" "" "" "United States" "" "0" "" "" "" "A3185-II1" "00385566" "" "" "" "1" "" "00000" "{PMID:Janssen-2011:21052717}" "" "" "" "" "" "0" "" "" "Northern-Europe" "AR151(A2834)-04" "00385567" "" "" "" "1" "" "00000" "{PMID:Janssen-2011:21052717}" "" "" "" "" "" "0" "" "" "Northern-Europe" "AR232(A2839)-03" "00385568" "" "" "" "1" "" "00000" "{PMID:Janssen-2011:21052717}" "" "" "" "" "" "0" "" "" "Northern-Europe" "AR232(A2839)-03" "00385570" "" "" "" "1" "" "00000" "{PMID:Janssen-2011:21052717}" "" "" "" "" "" "0" "" "" "Northern-Europe" "AR371(A2850)-03" "00385571" "" "" "" "1" "" "00000" "{PMID:Janssen-2011:21052717}" "" "" "" "" "" "0" "" "" "Northern-Europe" "AR515(A2857)-03" "00385576" "" "" "" "1" "" "00000" "{PMID:Janssen-2011:21052717}" "" "" "" "" "" "0" "" "" "Northern-Europe" "AR707(A2864)-08" "00385577" "" "" "" "1" "" "00000" "{PMID:Janssen-2011:21052717}" "" "" "" "" "" "0" "" "" "Northern-Europe" "AR707(A2864)-08" "00385584" "" "" "" "1" "" "00000" "{PMID:Janssen-2011:21052717}" "" "" "" "" "" "0" "" "" "Northern-Europe" "AR880(A2881)-04" "00385585" "" "" "" "1" "" "00000" "{PMID:Janssen-2011:21052717}" "" "" "" "" "" "0" "" "" "Northern-Europe" "F1(A2891)-04" "00385586" "" "" "" "1" "" "00000" "{PMID:Janssen-2011:21052717}" "" "" "" "" "" "0" "" "" "Northern-Europe" "F1(A2891)-05" "00385587" "" "" "" "1" "" "00000" "{PMID:Janssen-2011:21052717}" "" "" "" "" "" "0" "" "" "Northern-Europe" "F523-II1" "00385603" "" "" "" "1" "" "00000" "{PMID:Janssen-2011:21052717}" "" "" "" "Egypt" "" "0" "" "" "" "A3227-II1" "00385625" "" "" "" "1" "" "00000" "{PMID:de Castro-Miró-2014:24516651}" "" "" "" "" "" "0" "" "" "" "5NCE" "00385627" "" "" "" "1" "" "00000" "{PMID:de Castro-Miró-2014:24516651}" "" "" "" "" "" "0" "" "" "" "9RE" "00385628" "" "" "" "1" "" "00000" "{PMID:Alvarez-Satta-2014:24611592}" "" "" "" "Spain" "" "0" "" "" "Spanish" "GBB16" "00385636" "" "" "" "1" "" "00000" "{PMID:Lindstrand-2014:24746959}" "" "F" "" "" "" "0" "" "" "N.European" "AR704-03" "00385637" "" "" "" "1" "" "00000" "{PMID:Lindstrand-2014:24746959}" "" "F" "" "" "" "0" "" "" "N.European" "AR704-04" "00385641" "" "" "" "1" "" "00000" "{PMID:Lindstrand-2014:24746959}" "" "M" "" "" "" "0" "" "" "Latino" "RC1-03" "00385642" "" "" "" "1" "" "00000" "{PMID:Lindstrand-2014:24746959}" "" "M" "" "" "" "0" "" "" "N.European" "DM012-003" "00385975" "" "" "" "1" "" "00000" "{PMID:Khan-2013:23219996}" "Retinitis pigmentosa" "F" "yes" "Pakistan" "" "0" "" "" "" "" "00385976" "" "" "" "1" "" "00000" "{PMID:Khan-2013:23219996}" "Retinitis pigmentosa" "M" "yes" "Pakistan" "" "0" "" "" "" "" "00385977" "" "" "" "1" "" "00000" "{PMID:Khan-2013:23219996}" "Retinitis pigmentosa" "M" "yes" "Pakistan" "" "0" "" "" "" "" "00385978" "" "" "" "1" "" "00000" "{PMID:Khan-2013:23219996}" "Retinitis pigmentosa" "M" "yes" "Pakistan" "" "0" "" "" "" "" "00385979" "" "" "" "1" "" "00000" "{PMID:Khan-2013:23219996}" "Retinitis pigmentosa" "M" "yes" "Pakistan" "" "0" "" "" "" "" "00387477" "" "" "" "2" "" "00000" "{PMID:Alvarez-Satta-2014:24611592}, {PMID:Castro Sanchez 2015:26082521}" "2-generation family, 2 affected (brother/sister)" "F" "" "Saudi Arabia" "" "0" "" "" "Arab" "RP1032" "00387478" "" "" "" "1" "" "00000" "{PMID:Castro Sanchez 2015:26082521}" "" "M" "" "Spain" "" "0" "" "" "Spanish" "" "00387479" "" "" "" "1" "" "00000" "{PMID:Castro Sanchez 2015:26082521}" "" "M" "" "Spain" "" "0" "" "" "Spanish" "" "00387480" "" "" "" "1" "" "00000" "{PMID:Castro Sanchez 2015:26082521}" "" "F" "" "Spain" "" "0" "" "" "Spanish" "" "00387481" "" "" "" "1" "" "00000" "{PMID:Castro Sanchez 2015:26082521}" "" "" "" "Spain" "" "0" "" "" "Spanish" "" "00387482" "" "" "" "1" "" "00000" "{PMID:Castro Sanchez 2015:26082521}" "" "M" "" "Spain" "" "0" "" "" "Spanish" "" "00387483" "" "" "" "1" "" "00000" "{PMID:Castro Sanchez 2015:26082521}" "" "M" "" "Spain" "" "0" "" "" "Spanish" "" "00387484" "" "" "" "1" "" "00000" "{PMID:Castro Sanchez 2015:26082521}" "" "M" "" "Spain" "" "0" "" "" "Spanish" "" "00387485" "" "" "" "1" "" "00000" "{PMID:Castro Sanchez 2015:26082521}" "" "M" "" "Spain" "" "0" "" "" "Spanish" "" "00387546" "" "" "" "1" "" "00000" "{PMID:Knopp 2015:26003401}" "" "F" "yes" "" "" "0" "" "" "" "" "00387547" "" "" "" "1" "" "00000" "{PMID:Knopp 2015:26003401}" "" "F" "yes" "" "" "0" "" "" "" "" "00387580" "" "" "" "1" "" "00000" "{PMID:Scheidecker 2015:25982971}" "cone-rod distrophy" "F" "" "" "" "0" "" "" "" "" "00387581" "" "" "" "1" "" "00000" "{PMID:Scheidecker 2015:25982971}" "cone-rod distrophy" "F" "" "" "" "0" "" "" "" "" "00387584" "" "" "" "1" "" "00000" "{PMID:Scheidecker 2015:25982971}" "cone-rod distrophy" "M" "" "" "" "0" "" "" "" "" "00387585" "" "" "" "1" "" "00000" "{PMID:Scheidecker 2015:25982971}" "cone-rod distrophy" "M" "" "" "" "0" "" "" "" "" "00387586" "" "" "" "1" "" "00000" "{PMID:Scheidecker 2015:25982971}" "cone-rod distrophy" "M" "" "" "" "0" "" "" "" "" "00387587" "" "" "" "1" "" "00000" "{PMID:Scheidecker 2015:25982971}" "cone-rod distrophy" "M" "" "" "" "0" "" "" "" "" "00388026" "" "" "" "1" "" "00000" "{PMID:Wang 2016:27788217}" "" "M" "" "United States" "" "0" "" "" "" "1" "00388046" "" "" "" "1" "" "00000" "{PMID:Esposito 2017:28143435}" "" "" "" "Italy" "" "0" "" "" "" "P.12" "00388047" "" "" "" "1" "" "00000" "{PMID:Esposito 2017:28143435}" "" "" "" "Italy" "" "0" "" "" "" "P.13" "00388048" "" "" "" "1" "" "00000" "{PMID:Esposito 2017:28143435}" "" "" "yes" "Italy" "" "0" "" "" "" "P.14" "00388049" "" "" "" "1" "" "00000" "{PMID:Esposito 2017:28143435}" "" "" "yes" "Italy" "" "0" "" "" "" "P.15" "00388300" "" "" "" "1" "" "00000" "{PMID:Tao 2020:32448990}" "" "M" "" "China" "" "0" "" "" "" "P03" "00388301" "" "" "" "1" "" "00000" "{PMID:Tao 2020:32448990}" "" "M" "" "China" "" "0" "" "" "" "P04" "00388314" "" "" "" "1" "" "00000" "{PMID:Ullah-2017:28761321}" "" "M" "yes" "Pakistan" "" "0" "" "" "" "D:V-1" "00388315" "" "" "" "1" "" "00000" "{PMID:Ullah-2017:28761321}" "" "M" "yes" "Pakistan" "" "0" "" "" "" "D:V-2" "00388532" "" "" "" "1" "" "00000" "{PMID:Hirano 2020:32451492}" "" "F" "no" "Japan" "" "0" "" "" "" "7" "00388533" "" "" "" "1" "" "00000" "{PMID:Hirano 2020:32451492}" "" "F" "no" "Japan" "" "0" "" "" "" "8" "00388739" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 13, Bardet-Biedl syndrome, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "23" "00388745" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 15, Bardet-Biedl syndrome, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "29" "00388746" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 16, Bardet-Biedl syndrome, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "30" "00388811" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 46, Bardet-Biedl syndrome, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "95" "00388815" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 47, Bardet-Biedl syndrome, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "99" "00388817" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 48, Bardet-Biedl syndrome, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "101" "00388824" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 50, Bardet-Biedl syndrome, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "108" "00388845" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 57, Bardet-Biedl syndrome, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "129" "00389003" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 95, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "287" "00390173" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "G001418" "00390830" "" "" "" "1" "" "00000" "{PMID:Chandrasekar-2018:29806606}" "These mutations segregated with the disease and the parents were heterozygous for the same" "" "" "India" "" "0" "" "" "Indian" "" "00390831" "" "" "" "1" "" "00000" "{PMID:Chandrasekar-2018:29806606}" "These mutations segregated with the disease and the parents were heterozygous for the same" "" "" "India" "" "0" "" "" "Indian" "" "00391217" "" "" "" "1" "" "00000" "{PMID:Gumus 2021:32686083}" "" "F" "" "Turkey" "" "0" "" "" "" "6" "00393482" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "M" "" "" "" "0" "" "" "" "" "00394469" "" "" "" "1" "" "00000" "{PMID:Jeziorny-2020:33138063}" "" "M" "" "" "" "0" "" "" "" "" "00394473" "" "" "" "1" "" "00000" "{PMID:Jeziorny-2020:33138063}" "" "M" "" "" "" "0" "" "" "" "" "00394478" "" "" "" "1" "" "00000" "{PMID:Jeziorny-2020:33138063}" "" "M" "" "" "" "0" "" "" "" "" "00395031" "" "" "" "1" "" "00000" "{PMID:Zacchia 2021:33964006}" "" "M" "" "(Italy)" "" "0" "" "" "" "K45" "00395035" "" "" "" "1" "" "00000" "{PMID:Zacchia 2021:33964006}" "" "F" "" "(Italy)" "" "0" "" "" "" "K58" "00395041" "" "" "" "1" "" "00000" "{PMID:Zacchia 2021:33964006}" "" "" "" "(Italy)" "" "0" "" "" "" "K116" "00396595" "" "" "" "1" "" "00000" "{PMID:Mary 2019:30614526}" "Fetus: term at 26 gestation weeks" "F" "" "France" "" "0" "" "" "" "" "00396597" "" "" "" "1" "" "00000" "{PMID:Mary 2019:30614526}" "Fetus: term at 25 gestation weeks" "M" "" "France" "" "0" "" "" "" "" "00396599" "" "" "" "1" "" "00000" "{PMID:Mary 2019:30614526}" "Fetus: term at 34+5 gestation weeks" "?" "" "France" "" "0" "" "" "" "" "00396601" "" "" "" "1" "" "00000" "{PMID:Mary 2019:30614526}" "Fetus" "F" "" "France" "" "0" "" "" "" "" "00396603" "" "" "" "1" "" "00000" "{PMID:Mary 2019:30614526}" "Fetus: term at 19 gestation weeks" "F" "" "France" "" "0" "" "" "" "" "00396605" "" "" "" "1" "" "00000" "{PMID:Mary 2019:30614526}" "Fetus: term at 27 gestation weeks" "F" "" "France" "" "0" "" "" "" "" "00396607" "" "" "" "1" "" "00000" "{PMID:Mary 2019:30614526}" "Fetus: term at 20 gestation weeks" "M" "" "France" "" "0" "" "" "" "" "00396609" "" "" "" "1" "" "00000" "{PMID:Mary 2019:30614526}" "Fetus: term at 24 gestation weeks" "F" "" "France" "" "0" "" "" "" "" "00396611" "" "" "" "1" "" "00000" "{PMID:Mary 2019:30614526}" "Fetus: term at 29 gestation weeks" "M" "" "France" "" "0" "" "" "" "" "00404270" "" "" "00387477" "1" "" "00006" "{PMID:Alvarez-Satta 2017:28502102}" "brother" "M" "" "Saudi Arabia" "" "0" "" "" "" "RP1032" "00412484" "" "" "" "1" "" "00000" "{PMID:Delvallee 2021:33169370}" "" "" "" "France" "" "0" "" "" "" "G.II-3" "00412485" "" "" "" "1" "" "00000" "{PMID:Delvallee 2021:33169370}" "" "" "" "France" "" "0" "" "" "" "G.II-4" "00417512" "" "" "" "1" "" "00000" "{PMID:Aldahmesh 2014:24488770}" "family BBS_DG1, individual a" "F" "yes" "Saudi Arabia" "" "0" "" "" "" "BBS_DG1a" "00417513" "" "" "" "1" "" "00000" "{PMID:Aldahmesh 2014:24488770}" "family BBS_DG1, individual b" "M" "yes" "Saudi Arabia" "" "0" "" "" "" "BBS_DG1b" "00417835" "" "" "" "1" "" "00000" "{PMID:White 2007:17106446}" "Large consanguineous Omani family, patient D" "F" "yes" "Oman" "" "0" "" "" "Omani" "patient D" "00417836" "" "" "" "1" "" "00000" "{PMID:White 2007:17106446}" "Large consanguineous Omani family, patient C" "M" "yes" "Oman" "" "0" "" "" "Omani" "patient C" "00417837" "" "" "" "1" "" "00000" "{PMID:White 2007:17106446}" "Large consanguineous Omani family, patient B" "M" "yes" "Oman" "" "0" "" "" "Omani" "patient B" "00417838" "" "" "" "1" "" "00000" "{PMID:White 2007:17106446}" "Large consanguineous Omani family, patient A" "M" "yes" "Oman" "" "0" "" "" "Omani" "patient A" "00417839" "" "" "" "1" "" "00000" "{PMID:Putoux 2010:20805367}" "" "F" "" "" "" "0" "" "" "" "1" "00417840" "" "" "" "1" "" "00000" "{PMID:Putoux 2010:20805367}" "" "F" "" "" "" "0" "" "" "" "2" "00417841" "" "" "" "1" "" "00000" "{PMID:Putoux 2010:20805367}" "" "F" "" "" "" "0" "" "" "" "3" "00417842" "" "" "" "1" "" "00000" "{PMID:Putoux 2010:20805367}" "" "M" "" "" "" "0" "" "" "" "4" "00417843" "" "" "" "1" "" "00000" "{PMID:Putoux 2010:20805367}" "" "F" "" "" "" "0" "" "" "" "5" "00417845" "" "" "" "1" "" "00000" "{PMID:Agha 2013:23403234}" "family MRQ19, proband; first cousin Pakistani parents from Punjab" "M" "" "Pakistan" "" "0" "" "" "Pakistani" "IV:1" "00417846" "" "" "" "1" "" "00000" "{PMID:Agha 2013:23403234}" "family MRQ19, proband\'s brother; first cousin Pakistani parents from Punjab" "M" "" "Pakistan" "" "0" "" "" "Pakistani" "IV:3" "00417847" "" "" "" "1" "" "00000" "{PMID:Fieggen 2016:27245532}" "50 families with homozygous variant, 2 heterozygous" "M;F" "" "South Africa" "" "0" "" "" "black" "?" "00417848" "" "" "" "1" "" "00000" "{PMID:Ohto 2017:28808579}" "" "F" "" "Japan" "" "0" "" "" "Japanese" "?" "00417849" "" "" "" "1" "" "00000" "{PMID:Kurata 2018:29666954}" "" "F" "" "Japan" "" "0" "" "" "Japanese" "?" "00417850" "" "" "" "1" "" "00000" "{PMID:Brunbjerg-Hey 2018:30312873}" "induced pluripotent stem cell (iPSC) line KCi002-A from a male with BBS" "M" "" "" "" "0" "" "" "" "1" "00417852" "" "" "" "1" "" "00000" "{PMID:Ladino 2018:30335236}" "(article in Spanish)" "M" "yes" "Colombia" "" "0" "" "" "" "?" "00417853" "" "" "" "1" "" "00000" "{PMID:Paolacci 2019:30767287}" "fetus aborted at ~19 weeks gestation" "" "" "" "" "0" "" "" "" "?" "00417854" "" "" "" "1" "" "00000" "{PMID:Barrell 2019:31293383}" "Cell line Xiry_5 experiment" "M" "" "" "" "0" "" "" "British, white" "XIRY" "00417855" "" "" "" "1" "" "00000" "{PMID:Barrell 2019:31293383}" "Cell line Laig_1 experiment" "F" "" "" "" "0" "" "" "European, white" "LAIG" "00418366" "" "" "" "1" "" "00000" "{PMID:Li 2014:25533820}" "Chinese Han family, proband" "F" "yes" "China" "" "0" "" "" "Chinese Han" "?" "00420339" "" "" "" "1" "" "00000" "{PMID:Barabino 2020:32160518}" "an experiment involving cell line derived from patient" "" "" "" "" "0" "" "" "" "BBS01" "00420340" "" "" "" "1" "" "00000" "{PMID:Barabino 2020:32160518}" "an experiment involving cell line derived from patient" "" "" "" "" "0" "" "" "" "BBS02" "00420341" "" "" "" "1" "" "00000" "{PMID:Barabino 2020:32160518}" "an experiment involving cell line derived from patient" "" "" "" "" "0" "" "" "" "MKS01" "00420836" "" "" "" "1" "" "00000" "{PMID:Kaur 2021:33509858}" "born of third degree consanguineous marriage" "M" "yes" "India" "" "0" "" "" "Jammu region" "BBS01" "00447025" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "F" "" "Germany" "" "0" "" "" "" "BBS-72" "00447439" "" "" "" "3" "" "00006" "{PMID:Weisschuh 2024:37734845}" "family, 3 affected" "M" "" "Germany" "" "0" "" "" "" "USHII-362-1" "00447517" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "M" "" "Germany" "" "0" "" "" "" "BBS-73" "00447532" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "M" "" "Germany" "" "0" "" "" "" "CRD-768" "00462305" "" "" "" "1" "" "00006" "{PMID:Boissel 2017:29261186}" "analysis 101 stillborn fetuses with severe prenatal anoalies" "" "" "Canada" "0d" "0" "" "" "" "CONGE-006" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 307 "{{individualid}}" "{{diseaseid}}" "00024245" "01287" "00034031" "04212" "00034034" "04212" "00063269" "04222" "00095110" "04374" "00229590" "00198" "00290796" "00198" "00295444" "00198" "00308476" "04214" "00308477" "04214" "00308638" "04214" "00308957" "04214" "00325434" "04214" "00328048" "04214" "00333810" "04214" "00334082" "04214" "00334083" "04214" "00358813" "04212" "00358816" "04212" "00358818" "04212" "00358964" "04214" "00358970" "04214" "00359029" "04214" "00359384" "04214" "00363425" "04214" "00363428" "04214" "00363431" "04214" "00363436" "04214" "00363711" "04214" "00363748" "04214" "00373878" "04214" "00373879" "04214" "00373952" "04214" "00379369" "04214" "00379538" "04212" "00379811" "04214" "00380355" "04214" "00382215" "04214" "00382216" "04214" "00382350" "04214" "00382486" "04214" "00382602" "04214" "00383074" "04214" "00383081" "04214" "00383125" "04214" "00383126" "04214" "00383127" "04214" "00383128" "04214" "00383131" "04214" "00383134" "04214" "00383139" "04214" "00383155" "04214" "00383186" "04214" "00383188" "04214" "00383189" "04214" "00383193" "04214" "00383200" "04214" "00383201" "04214" "00383247" "04214" "00383249" "04214" "00383250" "04214" "00383251" "04214" "00383252" "04214" "00383253" "04214" "00383254" "04214" "00383255" "04214" "00383256" "04214" "00383257" "04214" "00383258" "04214" "00383259" "04214" "00383260" "04214" "00383261" "04214" "00383262" "04214" "00383263" "04214" "00383264" "04214" "00383265" "04214" "00383266" "04214" "00383267" "04214" "00383268" "04214" "00383269" "04214" "00383270" "04214" "00383284" "04214" "00383285" "04214" "00383288" "04214" "00383290" "04214" "00383291" "04214" "00383295" "04214" "00383297" "04214" "00383316" "04214" "00383317" "04214" "00383653" "04214" "00383656" "04214" "00383658" "04214" "00383659" "04214" "00383661" "04214" "00384639" "04214" "00384640" "04214" "00384641" "04214" "00384642" "04214" "00384643" "04214" "00384685" "04214" "00384686" "04214" "00384687" "04214" "00384688" "04214" "00384689" "04214" "00384690" "04214" "00384691" "04214" "00384692" "04214" "00384693" "04214" "00384694" "04214" "00384695" "04214" "00384696" "04214" "00384697" "04214" "00384698" "04214" "00384699" "04214" "00384700" "04214" "00384708" "04214" "00384709" "04214" "00384710" "04214" "00384711" "04214" "00384712" "04214" "00384713" "04214" "00384714" "04214" "00384715" "04214" "00384717" "04214" "00384721" "04214" "00384722" "04214" "00384723" "04214" "00384724" "04214" "00384725" "04214" "00384735" "04214" "00384736" "04214" "00384792" "04214" "00384808" "04214" "00384828" "04214" "00384835" "04214" "00384836" "04214" "00384837" "04214" "00385100" "04214" "00385101" "04214" "00385181" "04214" "00385182" "04214" "00385183" "04214" "00385202" "04214" "00385203" "04214" "00385204" "04214" "00385205" "04214" "00385206" "04214" "00385207" "04214" "00385208" "04214" "00385209" "04214" "00385210" "04214" "00385211" "04214" "00385212" "04214" "00385233" "04214" "00385243" "04214" "00385244" "04214" "00385245" "04214" "00385256" "04214" "00385258" "04214" "00385260" "04214" "00385261" "04214" "00385287" "04214" "00385308" "04214" "00385309" "04214" "00385310" "04214" "00385311" "04214" "00385312" "04214" "00385323" "04214" "00385324" "04214" "00385356" "04214" "00385357" "04214" "00385358" "04214" "00385359" "04214" "00385360" "04214" "00385361" "04214" "00385362" "04214" "00385363" "04214" "00385364" "04214" "00385365" "04214" "00385366" "04214" "00385367" "04214" "00385368" "04214" "00385369" "04214" "00385370" "04214" "00385371" "04214" "00385372" "04214" "00385373" "04214" "00385375" "04214" "00385389" "04214" "00385390" "04214" "00385560" "04214" "00385566" "04214" "00385567" "04214" "00385568" "04214" "00385570" "04214" "00385571" "04214" "00385576" "04214" "00385577" "04214" "00385584" "04214" "00385585" "04214" "00385586" "04214" "00385587" "04214" "00385603" "04214" "00385625" "04214" "00385627" "04214" "00385628" "04214" "00385636" "04214" "00385637" "04214" "00385641" "04214" "00385642" "04214" "00385975" "04214" "00385976" "04214" "00385977" "04214" "00385978" "04214" "00385979" "04214" "00387477" "04214" "00387478" "04214" "00387479" "04214" "00387480" "04214" "00387481" "04214" "00387482" "04214" "00387483" "04214" "00387484" "04214" "00387485" "04214" "00387546" "04214" "00387547" "04214" "00387580" "04214" "00387581" "04214" "00387584" "04214" "00387585" "04214" "00387586" "04214" "00387587" "04214" "00388026" "04214" "00388046" "04214" "00388047" "04214" "00388048" "04214" "00388049" "04214" "00388300" "04214" "00388301" "04214" "00388314" "04214" "00388315" "04214" "00388532" "04214" "00388533" "04214" "00388739" "04214" "00388745" "04214" "00388746" "04214" "00388811" "04214" "00388815" "04214" "00388817" "04214" "00388824" "04214" "00388845" "04214" "00389003" "04214" "00390173" "04214" "00390830" "04214" "00390831" "04214" "00391217" "04214" "00393482" "04214" "00394469" "04214" "00394473" "04214" "00394478" "04214" "00395031" "04214" "00395035" "04214" "00395041" "04214" "00396595" "04214" "00396597" "04214" "00396599" "04214" "00396601" "04214" "00396603" "04214" "00396605" "04214" "00396607" "04214" "00396609" "04214" "00396611" "04214" "00404270" "04214" "00412484" "04214" "00412485" "04214" "00417512" "04212" "00417513" "04212" "00417835" "04212" "00417836" "04212" "00417837" "04212" "00417838" "04212" "00417839" "04212" "00417840" "04212" "00417841" "04212" "00417842" "04212" "00417843" "04212" "00417845" "04212" "00417846" "04212" "00417847" "04212" "00417848" "04212" "00417849" "04212" "00417850" "04212" "00417852" "04212" "00417853" "04212" "00417854" "04212" "00417855" "04212" "00418366" "04212" "00420339" "04212" "00420340" "04212" "00420341" "04212" "00420836" "04212" "00447025" "00198" "00447439" "00198" "00447517" "00198" "00447532" "00198" "00462305" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 01287, 04212, 04214, 04222, 04374 ## Count = 305 "{{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/Cysts}}" "{{Phenotype/Hypertension/HPO_0000822}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000020367" "01287" "00024245" "00705" "Isolated (sporadic)" "" "Type 2 Diabetis, Obesity, one of the individuals had bilateral hypoacusis or partial hearing loss, a characteristic often associated with BBS. Two of the homozygotes are obese (body mass index [BMI] = 39.2, age = 70; BMI = 37.73, age = 67), and one of them is overweight (BMI = 28.83, age = 69). The lipid levels for one of the individuals (BMI = 37.7) showed that most of her lipid measurements are in the normal range (total cholesterol = 22nd percentile, low-density lipoprotein = 19th percentile, high-density lipoprotein = 14th percentile), but she has elevated levels of triglycerides in the 91st percentile, consistent with the obesity status. None of the three individuals were reported to have cardinal phenotypes associated with BBS such as polydactyly, intellectual disability, cystic kidney disease, or retinal dystrophy." "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027426" "04212" "00034031" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027429" "04212" "00034034" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050842" "04374" "00063269" "01581" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000073506" "04374" "00095110" "01586" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000172856" "00198" "00229590" "01807" "Unknown" "" "HP:0000548 (Cone/cone-rod dystrophy)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000233904" "04214" "00308476" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000233905" "04214" "00308477" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000234066" "04214" "00308638" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000234277" "04214" "00308957" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "BBS" "" "0000243921" "04214" "00325434" "00006" "Familial, autosomal recessive" "" "syndromic retinal systrophy" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000246275" "04214" "00328048" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000251995" "04214" "00333810" "00000" "Familial, autosomal recessive" "23y" "clinical category IA1a" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000252267" "04214" "00334082" "00000" "Familial, autosomal recessive" "28y" "clinical category IB2" "" "" "" "" "" "" "" "" "" "" "" "Bardet Biedl syndrome" "" "0000252268" "04214" "00334083" "00000" "Familial, autosomal recessive" "17y" "clinical category IB2" "" "" "" "" "" "" "" "" "" "" "" "Bardet Biedl syndrome" "" "0000254028" "04212" "00358813" "00000" "Unknown" "12y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl Syndrome" "" "0000254031" "04212" "00358816" "00000" "Unknown" "4y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl Syndrome" "" "0000254033" "04212" "00358818" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl Syndrome" "" "0000254262" "04214" "00358964" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000254268" "04214" "00358970" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "Leber Congenital Amaurosis" "" "0000254326" "04214" "00359029" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "" "0000254655" "04214" "00359384" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000258786" "04214" "00363425" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "Bardet Biedl syndrome" "" "0000258789" "04214" "00363428" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "Bardet Biedl syndrome" "" "0000258792" "04214" "00363431" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "Bardet Biedl syndrome" "" "0000258797" "04214" "00363436" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "Bardet Biedl syndrome" "" "0000259061" "04214" "00363711" "00000" "Isolated (sporadic)" "" "syndromic" "" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "" "0000259098" "04214" "00363748" "00000" "Familial" "" "syndromic" "" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "" "0000269087" "04214" "00373878" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "ciliopathy" "" "0000269088" "04214" "00373879" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "ciliopathy" "" "0000269161" "04214" "00373952" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000273242" "04214" "00379369" "00000" "Familial, autosomal recessive" "" "Retinitis pigmentosa, polydactyly, obesity, hypogonadism" "" "" "" "" "" "" "" "" "" "" "" "Bardete Biedl syndrome" "" "0000273411" "04212" "00379538" "03508" "Familial, autosomal recessive" "" "HP:0000662\tHP:0000613\tHP:0001129\tHP:0000639\tHP:0000551, HP:0001288,\tHP:0000365, HP:0000007, \tHP:0001513, HP:0010442" "" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "0000273665" "04214" "00379811" "00000" "Familial, autosomal recessive" "" "patient re-examined at the age of 12 years, showing Bardet-Biedl syndrome features: obesity, hypogonadism, and polydactyly." "" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "" "0000274206" "04214" "00380355" "00000" "Familial, autosomal recessive" "15y" "retinitis pigmentaria" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl syndrome" "" "0000276064" "04214" "00382215" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "" "0000276065" "04214" "00382216" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "" "0000276199" "04214" "00382350" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000276335" "04214" "00382486" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "Unspecified syndrome" "" "0000276451" "04214" "00382602" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000276864" "04214" "00383074" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa (RP)" "" "0000276871" "04214" "00383081" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa (RP)" "" "0000276915" "04214" "00383125" "00000" "Familial, autosomal recessive" "50y" "Polydactyly appendage right hand, cognitive impairment" "" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "0000276916" "04214" "00383126" "00000" "Familial, autosomal recessive" "47y" "Polydactyly hands feet, cognitive impairment" "" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "0000276917" "04214" "00383127" "00000" "Familial, autosomal recessive" "22y" "Polydactyly left foot, cognitive impairment" "" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "0000276918" "04214" "00383128" "00000" "Familial, autosomal recessive" "33y" "Polydactyly hands feet, cognitive impairment" "" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "0000276921" "04214" "00383131" "00000" "Familial, autosomal recessive" "70y" "Polydactyly hands feet" "" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "0000276924" "04214" "00383134" "00000" "Familial, autosomal recessive" "" "obesity, polydactyly, learning disability" "" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "0000276929" "04214" "00383139" "00000" "Familial, autosomal recessive" "" "obesity, polydactyly" "" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "0000276945" "04214" "00383155" "00000" "Familial, autosomal recessive" "" "obesity, polydactyly, learning disability" "" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "0000276973" "04214" "00383186" "00000" "Familial, autosomal recessive" "" "Overweight, Polydactyly, Kidney anomaly, Dev delayed" "13y6m" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000276975" "04214" "00383188" "00000" "Familial, autosomal recessive" "" "Overweight, Polydactyly, Kidney anomaly, Dev delayed" "15y6m" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000276976" "04214" "00383189" "00000" "Familial, autosomal recessive" "" "Overweight, Polydactyly, Kidney anomaly, Dev delayed" "11y10m" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000276980" "04214" "00383193" "00000" "Familial, autosomal recessive" "" "Obese, Clinodactyly, Kidney anomaly" "13y7m" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000276987" "04214" "00383200" "00000" "Familial, autosomal recessive" "9y" "retinitis pigmentosa, obesity, polydactyly, mental retardation, renal disease, developmental delaySeizures" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000276988" "04214" "00383201" "00000" "Familial, autosomal recessive" "10y" "retinitis pigmentosa, obesity, polydactyly, mental retardation, developmental delayDF," "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000277034" "04214" "00383247" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000277036" "04214" "00383249" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000277037" "04214" "00383250" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000277038" "04214" "00383251" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000277039" "04214" "00383252" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000277040" "04214" "00383253" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000277041" "04214" "00383254" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000277042" "04214" "00383255" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000277043" "04214" "00383256" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000277044" "04214" "00383257" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000277045" "04214" "00383258" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000277046" "04214" "00383259" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000277047" "04214" "00383260" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000277048" "04214" "00383261" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000277049" "04214" "00383262" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000277050" "04214" "00383263" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000277051" "04214" "00383264" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000277052" "04214" "00383265" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000277053" "04214" "00383266" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000277054" "04214" "00383267" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000277055" "04214" "00383268" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000277056" "04214" "00383269" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000277057" "04214" "00383270" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000277069" "04214" "00383284" "00000" "Familial, autosomal recessive" "6y" "RP, retinitis pigmentosa; PAP, postaxial polydactyly" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000277070" "04214" "00383285" "00000" "Familial, autosomal recessive" "8y" "RP, retinitis pigmentosa; PAP, postaxial polydactyly; MR, mental retardation; Renal, both structurally and functionally renal anomalies" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000277073" "04214" "00383288" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000277075" "04214" "00383290" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000277076" "04214" "00383291" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000277080" "04214" "00383295" "00000" "Familial, autosomal recessive" "7y" "RP, retinitis pigmentosa; PAP, postaxial polydactyly; MR, mental retardation; Renal, both structurally and functionally renal anomalies; Hypogenitalism" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000277082" "04214" "00383297" "00000" "Familial, autosomal recessive" "9y" "RP, retinitis pigmentosa; PAP, postaxial polydactyly; Hypogenitalism" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000277101" "04214" "00383316" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000277102" "04214" "00383317" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000277438" "04214" "00383653" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl syndro" "" "0000277441" "04214" "00383656" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl syndro" "" "0000277443" "04214" "00383658" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl syndro" "" "0000277444" "04214" "00383659" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl syndro" "" "0000277446" "04214" "00383661" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl syndro" "" "0000278429" "04214" "00384639" "00000" "Familial, autosomal recessive" "10y6m" "polycystic kidney, polydactyly, brachydactyly, retinitis pigmentosa, obesity" "" "6y" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "Bardet-Biedl syndrome" "" "0000278430" "04214" "00384640" "00000" "Familial, autosomal recessive" "5y4m" "polycystic kidney, polydactyly, obesity, retinitis pigmentosa" "" "4m" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "Bardet-Biedl syndrome" "" "0000278431" "04214" "00384641" "00000" "Familial, autosomal recessive" "10y6m" "polydactyly, polyuria, increased renal echogenicity, retinitis pigmentosa" "" "3y" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "Bardet-Biedl syndrome" "" "0000278432" "04214" "00384642" "00000" "Familial, autosomal recessive" "11y10m" "polydactyly, polyuria, increased renal echogenicity, retinitis pigmentosa" "" "3y10m" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "Bardet-Biedl syndrome" "" "0000278433" "04214" "00384643" "00000" "Familial, autosomal recessive" "16y" "Polycystic kidney, Hematocolpos, polyuria, retinitis pigmentosa, brachydactyly" "" "6y" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "Bardet-Biedl syndrome" "" "0000278468" "04214" "00384685" "00000" "Familial, autosomal recessive" "8y10m" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000278469" "04214" "00384686" "00000" "Familial, autosomal recessive" "12y5m" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000278470" "04214" "00384687" "00000" "Familial, autosomal recessive" "4y6m" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000278471" "04214" "00384688" "00000" "Familial, autosomal recessive" "4y4m" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000278472" "04214" "00384689" "00000" "Familial, autosomal recessive" "19y" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000278473" "04214" "00384690" "00000" "Familial, autosomal recessive" "12y11m" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000278474" "04214" "00384691" "00000" "Familial, autosomal recessive" "7y1m" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000278475" "04214" "00384692" "00000" "Familial, autosomal recessive" "8y4m" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000278476" "04214" "00384693" "00000" "Familial, autosomal recessive" "8y" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000278477" "04214" "00384694" "00000" "Familial, autosomal recessive" "5y1m" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000278478" "04214" "00384695" "00000" "Familial, autosomal recessive" "11y11m" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000278479" "04214" "00384696" "00000" "Familial, autosomal recessive" "14y10m" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000278480" "04214" "00384697" "00000" "Familial, autosomal recessive" "9y6m" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000278481" "04214" "00384698" "00000" "Familial, autosomal recessive" "7y10m" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000278482" "04214" "00384699" "00000" "Familial, autosomal recessive" "11y4m" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000278483" "04214" "00384700" "00000" "Familial, autosomal recessive" "61y" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000278491" "04214" "00384708" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000278492" "04214" "00384709" "00000" "Familial, autosomal recessive" "14y10m" "digit anomaly" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000278493" "04214" "00384710" "00000" "Familial, autosomal recessive" "17y8m" "weight anomalies, digit anomaly" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000278494" "04214" "00384711" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000278495" "04214" "00384712" "00000" "Familial, autosomal recessive" "20y8m" "weight anomalies, digit anomaly" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000278496" "04214" "00384713" "00000" "Familial, autosomal recessive" "25y4m" "weight anomalies, digit anomaly" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000278497" "04214" "00384714" "00000" "Familial, autosomal recessive" "6y" "digit anomaly, moderate cognitive impairment" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000278498" "04214" "00384715" "00000" "Familial, autosomal recessive" "16y11m" "weight anomalies, digit anomaly" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000278500" "04214" "00384717" "00000" "Familial, autosomal recessive" "" "weight anomalies, digit anomaly, moderate cognitive impairment" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000278504" "04214" "00384721" "00000" "Familial, autosomal recessive" "17y10m" "weight anomalies, digit anomaly" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000278505" "04214" "00384722" "00000" "Familial, autosomal recessive" "17y11m" "weight anomalies" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000278506" "04214" "00384723" "00000" "Familial, autosomal recessive" "15y1m" "weight anomalies, digit anomaly" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000278507" "04214" "00384724" "00000" "Familial, autosomal recessive" "43y1m" "weight anomalies, digit anomaly" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000278508" "04214" "00384725" "00000" "Familial, autosomal recessive" "0y5m" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000278518" "04214" "00384735" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000278519" "04214" "00384736" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000278575" "04214" "00384792" "00000" "Familial, autosomal recessive" "" "obesity, polydactyly, typical facies" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa (RP)" "" "0000278591" "04214" "00384808" "00000" "Familial, autosomal recessive" "" "obesity, polydactyly, typical facies" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa (RP)" "" "0000278611" "04214" "00384828" "00000" "Familial, autosomal recessive" "" "obesity, mental retardation, polydactyly, typical facies, hypogenitalism" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa (RP)" "" "0000278618" "04214" "00384835" "00000" "Familial, autosomal recessive" "" "obesity, mental retardation, renal disease, polydactyly, hydrometrocolpos" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa (RP)" "" "0000278619" "04214" "00384836" "00000" "Familial, autosomal recessive" "" "obesity, mental retardation, renal disease, polydactyly, hypogenitalism" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa (RP)" "" "0000278620" "04214" "00384837" "00000" "Familial, autosomal recessive" "" "obesity, polydactyly, hypogenitalism" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa (RP)" "" "0000278883" "04214" "00385100" "00000" "Familial, autosomal recessive" "" "Abnormal male genitals" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "Bardet-Biedl syndrome" "" "0000278884" "04214" "00385101" "00000" "Familial, autosomal recessive" "" "Abnormal male genitals" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "Bardet-Biedl syndrome" "" "0000278977" "04214" "00385181" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000278978" "04214" "00385182" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000278979" "04214" "00385183" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000278998" "04214" "00385202" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000278999" "04214" "00385203" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000279000" "04214" "00385204" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000279001" "04214" "00385205" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000279002" "04214" "00385206" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000279003" "04214" "00385207" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000279004" "04214" "00385208" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000279005" "04214" "00385209" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000279006" "04214" "00385210" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000279007" "04214" "00385211" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000279008" "04214" "00385212" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000279029" "04214" "00385233" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000279039" "04214" "00385243" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000279040" "04214" "00385244" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000279041" "04214" "00385245" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000279052" "04214" "00385256" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000279054" "04214" "00385258" "00000" "Familial, autosomal recessive" "" "Polydactyly, kidney features, obesity, retinitis pigmentosa, hydrometrocolpos" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000279056" "04214" "00385260" "00000" "Familial, autosomal recessive" "" "Polydactyly, kidney features, obesity, retinitis pigmentosa, rectovaginal ?stula HM" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000279057" "04214" "00385261" "00000" "Familial, autosomal recessive" "" "Polydactyly, kidney features, retinitis pigmentosa, hirschprung, hydrometrocolpos" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000279083" "04214" "00385287" "00000" "Familial, autosomal recessive" "15y" "obesity, retinitis pigmentosa, polydactyly, hypogenitalism,mental retardation" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000279104" "04214" "00385308" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000279105" "04214" "00385309" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000279106" "04214" "00385310" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000279107" "04214" "00385311" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000279108" "04214" "00385312" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000279119" "04214" "00385323" "00000" "Familial, autosomal recessive" "25y4m" "retinal dystrophy, weight anomaly, digit anomaly, cognitive impairement, developmental delay, developmental delay, developmental delay, Irr menses, scoliosis, Dislipidemia" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000279120" "04214" "00385324" "00000" "Familial, autosomal recessive" "8y6m" "retinal dystrophy, weight anomaly, digit anomaly, developmental delay, developmental delay, developmental delay, renal structure anomaly, Liver str, Diabetes, Asthma, DislipidemiaOutset gait, genu valgum, Growth hormone" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000279152" "04214" "00385356" "00000" "Familial, autosomal recessive" "20y8m" "retinal dystrophy, digit anomaly, cognitive impairement, cognitive impairement, cognitive impairement, developmental delay, developmental delay, developmental delay, Liver str, Liver fx, DiabetesCryptochidismDepression, Anxiety, Gait anomaly" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000279153" "04214" "00385357" "00000" "Familial, autosomal recessive" "17y" "retinal dystrophy, weight anomaly, digit anomaly, cognitive impairement, developmental delay, developmental delay, developmental delay, renal structure anomaly, Liver str, Dislipidemia, Hyperinsulinemia" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000279154" "04214" "00385358" "00000" "Familial, autosomal recessive" "19y4m" "retinal dystrophy, weight anomaly, digit anomaly, cognitive impairement, developmental delay, developmental delay, developmental delay, renal structure anomaly, Liver str, Liver fx, HBP, Dislipidemia, Hyperinsulinemia, AsthmaDepression, OCD, Emotionally labile" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000279155" "04214" "00385359" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000279156" "04214" "00385360" "00000" "Familial, autosomal recessive" "24y" "retinal dystrophy, weight anomaly, digit anomaly, cognitive impairement, cognitive impairement, developmental delay, developmental delay, developmental delay, renal structure anomaly, Irr menses, Liver fx, DislipidemiaTeeth abnormality," "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000279157" "04214" "00385361" "00000" "Familial, autosomal recessive" "32y" "retinal dystrophy, weight anomaly, digit anomaly, cognitive impairement, developmental delay, developmental delay, developmental delay, renal structure anomaly, Scoliosis, HBP, DiabetesDepression, Hirsutism" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000279158" "04214" "00385362" "00000" "Familial, autosomal recessive" "6y" "weight anomaly, digit anomaly, cognitive impairement, developmental delay, developmental delay, developmental delay, renal structure anomaly, Heart anomalyTeeth crowding, Dysmorphic" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000279159" "04214" "00385363" "00000" "Familial, autosomal recessive" "16y11m" "retinal dystrophy, weight anomaly, digit anomaly, cognitive impairement, developmental delay, developmental delay, developmental delay, Heart anomaly" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000279160" "04214" "00385364" "00000" "Familial, autosomal recessive" "4y" "retinal dystrophy, weight anomaly, digit anomaly, cognitive impairement, developmental delay, developmental delay, developmental delay, AsthmaBehavioral abn (aggression and soiling)" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000279161" "04214" "00385365" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000279162" "04214" "00385366" "00000" "Familial, autosomal recessive" "7y" "retinal dystrophy, weight anomaly, digit anomaly, cognitive impairement, cognitive impairement, cognitive impairement, developmental delay, developmental delay, developmental delay, renal structure anomaly, AsthmaVaginal atresia, HydrometrocolposSeizures, Microdontia" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000279163" "04214" "00385367" "00000" "Familial, autosomal recessive" "17y" "retinal dystrophy, weight anomaly, digit anomaly, cognitive impairement, developmental delay, developmental delay, developmental delay, renal structure anomaly, Liver fx, Acanthosis nigricans" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000279164" "04214" "00385368" "00000" "Familial, autosomal recessive" "17y10m" "retinal dystrophy, weight anomaly, digit anomaly, developmental delay, developmental delay, developmental delay, renal structure anomaly, Anxiety disorder" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000279165" "04214" "00385369" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000279166" "04214" "00385370" "00000" "Familial, autosomal recessive" "15y1m" "retinal dystrophy, weight anomaly, digit anomaly," "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000279167" "04214" "00385371" "00000" "Familial, autosomal recessive" "43y1m" "retinal dystrophy, weight anomaly, digit anomaly, developmental delay, developmental delay, developmental delay, renal structure anomaly, Liver str, Diabetes," "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000279168" "04214" "00385372" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000279169" "04214" "00385373" "00000" "Familial, autosomal recessive" "14y4m" "retinal dystrophy, digit anomaly, developmental delay, developmental delay, developmental delay, Dislipidemia" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000279171" "04214" "00385375" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000279185" "04214" "00385389" "00000" "Familial, autosomal recessive" "30y" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000279186" "04214" "00385390" "00000" "Familial, autosomal recessive" "37y" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000279355" "04214" "00385560" "00000" "Familial, autosomal recessive" "" "retinitis pigmentosa, postaxial polydactyly, obesity, hypogonadism, renal anomalies, BE,SD" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl syndrome (BBS)" "" "0000279361" "04214" "00385566" "00000" "Familial, autosomal recessive" "" "retinitis pigmentosa, postaxial polydactyly, obesity, LD,SD" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl syndrome (BBS)" "" "0000279362" "04214" "00385567" "00000" "Familial, autosomal recessive" "" "retinitis pigmentosa, postaxial polydactyly, obesity, hypogonadism, SD" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl syndrome (BBS)" "" "0000279363" "04214" "00385568" "00000" "Familial, autosomal recessive" "" "retinitis pigmentosa, postaxial polydactyly, obesity, hypogonadism, SD" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl syndrome (BBS)" "" "0000279365" "04214" "00385570" "00000" "Familial, autosomal recessive" "" "retinitis pigmentosa, postaxial polydactyly, obesity, AMRR,Scol,SD" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl syndrome (BBS)" "" "0000279366" "04214" "00385571" "00000" "Familial, autosomal recessive" "" "retinitis pigmentosa, postaxial polydactyly, obesity, hypogonadism, CTEV,SD,SS" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl syndrome (BBS)" "" "0000279371" "04214" "00385576" "00000" "Familial, autosomal recessive" "" "retinitis pigmentosa, postaxial polydactyly, obesity, renal anomalies, HMC,MR" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl syndrome (BBS)" "" "0000279372" "04214" "00385577" "00000" "Familial, autosomal recessive" "" "retinitis pigmentosa, postaxial polydactyly, obesity, renal anomalies, HMC,MR" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl syndrome (BBS)" "" "0000279379" "04214" "00385584" "00000" "Familial, autosomal recessive" "" "retinitis pigmentosa, postaxial polydactyly, obesity, Cons,SD,UTIS" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl syndrome (BBS)" "" "0000279380" "04214" "00385585" "00000" "Familial, autosomal recessive" "" "retinitis pigmentosa, postaxial polydactyly, obesity, hypogonadism, renal anomalies, BD,COM,DD,HT,SYN" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl syndrome (BBS)" "" "0000279381" "04214" "00385586" "00000" "Familial, autosomal recessive" "" "retinitis pigmentosa, postaxial polydactyly, obesity, hypogonadism, renal anomalies, BD,COM,DD,HT,SYN" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl syndrome (BBS)" "" "0000279382" "04214" "00385587" "00000" "Familial, autosomal recessive" "" "renal anomalies, SM,TCP" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl syndrome (BBS)" "" "0000279398" "04214" "00385603" "00000" "Familial, autosomal recessive" "" "obesity, renal anomalies" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl syndrome (BBS)" "" "0000279420" "04214" "00385625" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa (RP)" "" "0000279422" "04214" "00385627" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "Cone Dystrophies (CD)" "" "0000279423" "04214" "00385628" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "0000279431" "04214" "00385636" "00000" "Familial, autosomal recessive" "" "retinitis pigmentosa, polydactyly, obesity, developmental delay" "" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "0000279432" "04214" "00385637" "00000" "Familial, autosomal recessive" "" "retinitis pigmentosa, polydactyly, obesity, developmental delay" "" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "0000279436" "04214" "00385641" "00000" "Familial, autosomal recessive" "" "retinitis pigmentosa, polydactyly, obesity, hypogonadism, developmental delay" "" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "0000279437" "04214" "00385642" "00000" "Familial, autosomal recessive" "" "retinitis pigmentosa, polydactyly, obesity, developmental delay" "" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "0000279776" "04214" "00385975" "00000" "Familial, autosomal recessive" "37y" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl syndrome" "" "0000279777" "04214" "00385976" "00000" "Familial, autosomal recessive" "26y" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl syndrome" "" "0000279778" "04214" "00385977" "00000" "Familial, autosomal recessive" "20y" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl syndrome" "" "0000279779" "04214" "00385978" "00000" "Familial, autosomal recessive" "18y" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl syndrome" "" "0000279780" "04214" "00385979" "00000" "Familial, autosomal recessive" "13y" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl syndrome" "" "0000281040" "04214" "00387477" "00000" "Familial, autosomal recessive" "15y" "retinal dystrophy, obesity, polydactyly," "1y" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "0000281041" "04214" "00387478" "00000" "Familial, autosomal recessive" "13y" "retinal dystrophy, polydactyly, brachydactyly/syndactyly, cognitive impairment, cardiovascular abnormalities," "4y" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "0000281042" "04214" "00387479" "00000" "Familial, autosomal recessive" "48y" "retinal dystrophy, obesity, polydactyly, cognitive impairment, psychomotor delay, urogenital anomalies," "5y" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "0000281043" "04214" "00387480" "00000" "Familial, autosomal recessive" "33y" "retinal dystrophy, obesity, polydactyly, urogenital anomalies, renal abnormalities, cardiovascular abnormalities," "2y" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "0000281044" "04214" "00387481" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "0000281045" "04214" "00387482" "00000" "Familial, autosomal recessive" "7y" "retinal dystrophy, polydactyly, cognitive impairment, psychomotor delay, urogenital anomalies, renal abnormalities," "" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "0000281046" "04214" "00387483" "00000" "Familial, autosomal recessive" "9y" "retinal dystrophy, obesity, polydactyly, cognitive impairment, psychomotor delay, urogenital anomalies, renal abnormalities," "" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "0000281047" "04214" "00387484" "00000" "Familial, autosomal recessive" "20y" "retinal dystrophy, obesity, polydactyly," "8y" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "0000281048" "04214" "00387485" "00000" "Familial, autosomal recessive" "45y" "retinal dystrophy, obesity, polydactyly, brachydactyly/syndactyly, urogenital anomalies, renal abnormalities," "" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "0000281109" "04214" "00387546" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "" "0000281110" "04214" "00387547" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "" "0000281143" "04214" "00387580" "00000" "Familial, autosomal recessive" "25y" "" "8y" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "" "0000281144" "04214" "00387581" "00000" "Familial, autosomal recessive" "25y" "" "8y" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "" "0000281147" "04214" "00387584" "00000" "Familial, autosomal recessive" "54y" "" "31y" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "" "0000281148" "04214" "00387585" "00000" "Familial, autosomal recessive" "54y" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "" "0000281149" "04214" "00387586" "00000" "Familial, autosomal recessive" "36y" "" "12y" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "" "0000281150" "04214" "00387587" "00000" "Familial, autosomal recessive" "36y" "" "12y" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "" "0000281621" "04214" "00388026" "00000" "Familial, autosomal recessive" "" "Rod and cone dystrophy, horseshoe kidney, ureterocele." "10y" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa (RP)" "" "0000281641" "04214" "00388046" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "0000281642" "04214" "00388047" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "0000281643" "04214" "00388048" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "0000281644" "04214" "00388049" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "0000281852" "04214" "00388300" "00000" "Familial, autosomal recessive" "13y" "" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "Bardet-Biedl syndrome" "" "0000281853" "04214" "00388301" "00000" "Familial, autosomal recessive" "22y" "" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "Bardet-Biedl syndrome" "" "0000281866" "04214" "00388314" "00000" "Familial, autosomal recessive" "15y" "retinitis pigmentosa, polydactyly right hand, obesity, hypogonadism, cognitive Impairment" "" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "0000281867" "04214" "00388315" "00000" "Familial, autosomal recessive" "14y" "retinitis pigmentosa, polydactyly both hands, obesity, hypogonadism, cognitive Impairment, renal Impairment" "" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "0000282073" "04214" "00388532" "00000" "Familial, autosomal recessive" "10y" "intellectual disability, obesity, polydactyly, renal fibrosis, BMI: nd, speech delay or disorder, development delay, dental crowding, behavioral problems" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "Bardet-Biedl syndrome" "" "0000282074" "04214" "00388533" "00000" "Familial, autosomal recessive" "22y" "rod-cone dystrophy, obesity, polydactyly, BMI: 33.9, speech delay or disorder, diabetes mellitus" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "Bardet-Biedl syndrome" "" "0000282280" "04214" "00388739" "00000" "Familial, autosomal recessive" "31y" "age at genetic diagnosis mentioned" "" "24y" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "" "" "0000282286" "04214" "00388745" "00000" "Familial, autosomal recessive" "35y" "age at genetic diagnosis mentioned" "" "33y" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "" "" "0000282287" "04214" "00388746" "00000" "Familial, autosomal recessive" "39y" "age at genetic diagnosis mentioned" "" "32y" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "" "" "0000282352" "04214" "00388811" "00000" "Familial, autosomal recessive" "36y" "age at genetic diagnosis mentioned" "" "30y" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "" "" "0000282356" "04214" "00388815" "00000" "Familial, autosomal recessive" "40y" "age at genetic diagnosis mentioned" "" "35y" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "" "" "0000282358" "04214" "00388817" "00000" "Familial, autosomal recessive" "43y" "age at genetic diagnosis mentioned" "" "38y" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "" "" "0000282365" "04214" "00388824" "00000" "Familial, autosomal recessive" "36y" "age at genetic diagnosis mentioned" "" "32y" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "" "" "0000282386" "04214" "00388845" "00000" "Familial, autosomal recessive" "22y" "age at genetic diagnosis mentioned" "" "19y" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "" "" "0000282544" "04214" "00389003" "00000" "Isolated (sporadic)" "42y" "age at genetic diagnosis mentioned" "" "37y" "" "" "" "" "" "" "" "" "sporadic retinitis pigmentosa" "" "" "0000283711" "04214" "00390173" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000284318" "04214" "00390830" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl syndrome" "" "0000284319" "04214" "00390831" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl syndrome" "" "0000284659" "04214" "00391217" "00000" "Familial, autosomal recessive" "5y" "BMI: 30.8, rod-cone dystrophy, polydactyly, moderate intellectual disability, renal abnormalities, speech disorder, developmental delay, BBS10 c.145C > T" "" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "" "0000286688" "04214" "00393482" "00000" "Isolated (sporadic)" "12y" "" "" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa (RP)" "" "0000287672" "04214" "00394469" "00000" "Familial, autosomal recessive" "" "bronchial asthma, cryptorchidism, dyslipidemia, scoliosis" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome" "" "0000287676" "04214" "00394473" "00000" "Familial, autosomal recessive" "" "dyslipidemia, hypospadias" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome" "" "0000287681" "04214" "00394478" "00000" "Familial, autosomal recessive" "" "hepatic steatosis, dyslipidemia, scoliosis" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome" "" "0000288231" "04214" "00395031" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "" "" "0000288235" "04214" "00395035" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "" "" "0000288241" "04214" "00395041" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "" "" "0000289756" "04214" "00396595" "00000" "Familial, autosomal recessive" "" "Overgrowth, polydactyly, postaxial, lower limbs, upper limbs, syndactyly, kidney abnormality, enlarged kidneys, hyperechogenic kidneys, renal cysts" "" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "0000289758" "04214" "00396597" "00000" "Familial, autosomal recessive" "" "Choroidal plexus cysts, polydactyly, postaxial, lower limbs, upper limbs, kidney abnormality, hyperechogenic kidneys, cns anomaly" "" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "0000289760" "04214" "00396599" "00000" "Familial, autosomal recessive" "" "Cardiac hypertrophy, polydactyly, lower limbs, kidney abnormality, renal cysts" "" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "0000289762" "04214" "00396601" "00000" "Familial, autosomal recessive" "" "Pulmonary artery stenosis, right stomach, polysplenia, retrognathia, polydactyly, postaxial, lower limbs, kidney abnormality, enlarged kidneys, renal cysts, situs inversus totalis" "" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "0000289764" "04214" "00396603" "00000" "Familial, autosomal recessive" "" "Clenched hands, dysmorphy, subcutaneous edema, polydactyly, postaxial, lower limbs, upper limbs, kidney abnormality, enlarged kidneys, renal cysts" "" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "0000289766" "04214" "00396605" "00000" "Familial, autosomal recessive" "" "Shortened femurs, Pierre Robin sequence, polydactyly, lower limbs, upper limbs, kidney abnormality, enlarged kidneys, oligoamnios, hyperechogenic kidneys, renal cysts, hepatic anomaly" "" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "0000289768" "04214" "00396607" "00000" "Familial, autosomal recessive" "" "Lung hypoplasia, polydactyly, postaxial, lower limbs, upper limbs, kidney abnormality, enlarged kidneys, oligoamnios, hyperechogenic kidneys, renal cysts, hepatic anomaly" "" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "0000289770" "04214" "00396609" "00000" "Familial, autosomal recessive" "" "kidney abnormality, renal cysts" "" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "0000289772" "04214" "00396611" "00000" "Familial, autosomal recessive" "" "Edema, macrocephaly, ascites, hydramnios, lung hypoplasia, polydactyly, postaxial, lower limbs, kidney abnormality, enlarged kidneys, hyperechogenic kidneys, urinary system abnormality, hydrometrocolpos, hepatic anomaly" "" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "0000296857" "04214" "00404270" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "" "0000304486" "04214" "00412484" "00000" "Familial, autosomal recessive" "" "sensorineural features: retinal dystrophy; abnormalities of the hands and feet: postaxial polydactyly; obesity; intellectual disability; urogenital anomalies" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "" "" "0000304487" "04214" "00412485" "00000" "Familial, autosomal recessive" "" "sensorineural features: retinal dystrophy; abnormalities of the hands and feet: none; obesity; intellectual disability; urogenital anomalies; other clinical features: macrocephaly" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "" "" "0000308992" "04212" "00417512" "00000" "Familial, autosomal recessive" "" "obesity; intellectual disability; renal symptoms: chronic kidney disease; retinitis pigmentosa; no polydactyly; no deafness; no anosmia; atopy; no BBS facies; congenital heart disease: unknown; fatty liver: unknown; amenorrhea" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "" "0000308993" "04212" "00417513" "00000" "Familial, autosomal recessive" "" "obesity; intellectual disability; renal symptoms: none; retinitis pigmentosa; polydactyly; deafness; no anosmia; atopy; BBS facies; congenital heart disease: hypoplastic left ventricle; fatty liver: unknown; hypogenitalism" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "" "0000309203" "04212" "00417835" "00000" "Familial, autosomal recessive" "6y" "night blindness; visual impairment: visual acuity right/left eye: 0.3/0.15; attenuation, mild pigmentary disturbance; visual field: could not be tested; refractive error:-3/-2; -4/-2, myopic astigmatism; weight (kg):30, truncal obesity, round facies; height (cm): 110.6; polydactyly: all four limbs syndactyly, brachydactyly; genital system (genital malformation, secondary sex characteristics): infantile uterus on ultrasound exam; intellectual impairment or delayed development: vineland social maturity scale: social age - 2.5 years, social quotient - 40, moderate mental retardation; renal anomalies: recurrent urinary tract infection+urinary incontinence; no renal anomalies on ultrasound scan" "4y" "" "night blindness" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "" "0000309204" "04212" "00417836" "00000" "Familial, autosomal recessive" "4y" "night blindness; visual impairment: visual acuity right/left eye: not available; retinal vascular attenuation, mild pigmentary disturbance; visual field: could not be tested; refractive error:+3.75/-2; +3.0/-2, hypermetropic astigmatism; weight (kg):28, truncal obesity, round facies; height (cm): 109; polydactyly: hands brachydactyly, feet-polydactyly, syndactyly; genital system (genital malformation, secondary sex characteristics): none; intellectual impairment or delayed development: delayed motor development and speech delay-attention deficit disorder with poor concentration*; renal anomalies: no renal anomalies on ultrasound scan" "4y" "" "night blindness" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "" "0000309205" "04212" "00417837" "00000" "Familial, autosomal recessive" "13y" "night blindness; visual impairment: visual acuity right/left eye: 0.2/0.2; attenuation, mild pigmentary disturbance; visual field: constricted field of vision (40deg); refractive error:-0.5/-2; -1.5/-2.0, myopic astigmatism; weight (kg):79, truncal obesity, round facies; height (cm): 156; polydactyly: brachydactyly all four limbs; hands-syndactyly (surgery); genital system (genital malformation, secondary sex characteristics): small penis; undescended testes; intellectual impairment or delayed development: delayed motor development and speech delay poor academic school record; renal anomalies: no renal anomalies (blood, urea and electrolytes, ultrasound)" "6y" "" "vision impairment" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "" "0000309206" "04212" "00417838" "00000" "Familial, autosomal recessive" "24y" "night blindness; visual impairment: visual acuity right/left eye: 0.05/0.05; optic nerve pallor, retinal vascular attenuation, pigmentary disturbance (tigroid fundus; few bone- spicules in mid-periphery); visual field: constricted field of vision (20deg); refractive error:-10.75/-1.5; -8/-2, high myopic astigmatism; weight (kg):80, truncal obesity; height (cm): 160; polydactyly: brachydactyly, polydactyly; genital system (genital malformation, secondary sex characteristics): small penis; intellectual impairment or delayed development: delayed motor development and speech delay poor academic school record; renal anomalies: no renal anomalies (blood, urea and electrolytes, ultrasound)" "10y" "" "vision impairment" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "" "0000309207" "04212" "00417839" "00000" "Familial, autosomal recessive" "20y" "kidneys: progressive renal failure; polydactyly: upper limbs, left foot; other: antenatally association of enlarged hyperechogenic kidneys and postaxial polydactyly, described previously (case 7 of Karmous-Benailly et al.); after birth, the size of the kidneys decreased to normal, while progressive renal failure appeared; 3y: obesity, 12y: vision normal, electroretinogram: progressive retinal dystrophy, liver normal" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "" "0000309208" "04212" "00417840" "00000" "Familial, autosomal recessive" "" "kidneys: cystic kidneys similar to that observed in Meckel syndrome; polydactyly: right foot, right hand23-week female fetus, pregnancy terminated because of severe cystic kidneys and oligoamnios; autopsy: enlarged kidneys with nonetheless normal nephrogenesis, containing multiple thin-walled cysts along nephron segments and collecting ducts showing a gradient in the size of cysts from periphery to centre; parenchyme otherwise normal, without metaplastic cartilage" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "" "0000309209" "04212" "00417841" "00000" "Familial, autosomal recessive" "" "kidneys: cystic kidneys similar to that observed in Meckel syndrome; polydactyly: four limbs26-week female fetus, enlarged hyperechogenic kidneys and hexadactyly of four limbs; autopsy: facial dysmorphism with a round face, hypertelorism, small flattened nose, micro-retrognathism and small ears, characteristic of Potter dysmorphism; histological examination of the kidneys: Meckel-like cyst size and number augmentation from the cortex to the medulla; lesions moderate, with persistence of corticomedullary differentiation and subcapsular nephrogenesis; liver histologically normal" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "" "0000309210" "04212" "00417842" "00000" "Familial, autosomal recessive" "" "kidneys: cystic kidneys similar to that observed in Meckel syndrome; polydactyly: lower limbs21-week male fetus; facial dysmorphism with retrognathism and hypoplastic nasal bone characteristic of Potter sequence; pulmonary artery stenosis and situs ambiguus where the stomach and spleen were localised on the right side with polysplenia; pancreas hypoplastic, with absence of the tail; histological examination of the kidneys: Meckel-like cyst size and number augmentation from the cortex to the medulla; pancreatic ducts were slightly dilated" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "" "0000309211" "04212" "00417843" "00000" "Familial, autosomal recessive" "" "kidneys: cystic kidneys similar to that observed in Meckel syndrome; polydactyly: lower limbs22-week female fetus Meckel-like cystic kidneys; Potter sequence with dysmorphism and contracted limbs; liver: normal, previous pregnancy (11 years ago) terminated because of cystic kidneys and hexadactyly" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "" "0000309213" "04212" "00417845" "00000" "Familial, autosomal recessive" "15y" "born at full term after an uneventful pregnancy; obesity, post axial polydactyly in both hands noted at birth; milestones delayed; myopia, learning disabilities; learned to walk at the age of 3y, speak at 4y6m; behavior shy, introvert and anxious, 15y: face a moon-like appearance due to obesity, height: 156.02 cm (88th centile), weight: 75 kg (3rd centile); pupillary distance: normal (58 mm); night blindness for several years, visual acuity right, left eye: 6/60, counting finger +1m; astigmatism and myopia; funduscopy: pigmentary degeneration confirmed retinitis pigmentosa; brain computed tomography: no intracranial hemorrhage, mass effect or midline shift; benign vascular calcification was noted in the bilateral basal ganglia; subtle non-specific tiny parenchyma calcification near the vertex was seen; no other abnormal density was present in the brain parenchyma; no extra axial collection nor the sella and pineal region abnormality, grey and white matter differentiation maintained slight sclerosis and opacification of the right mastoid air cells was seen; fullness observed in nasopharynx but no osseous abnormality; enlarged adenoids, X rays of both hands -no fracture, dislocation, lytic or sclerotic lesion in the visualized bones; bilateral supernumerary digit having a small metacarpal, proximal and distal phalanx, soft tissues unremarkable; metabolic screen and renal function tests: normal range of different parameters; liver enzymes elevated: serum glutamate pyruvate transaminase 140 U/L, serum glutamicoxaloacetic transaminase: 66 U/L alkaline phosphatase: 369 U/L; complete blood count and heart rate: unremarkable; hypogonadism with micropenis and undescended testis" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "" "0000309214" "04212" "00417846" "00000" "Familial, autosomal recessive" "4y" "born from normal pregnancy of 40 weeks; 4y clinical assessment: had night blindness, vision deteriorating gradually; obesity, small penis with undescended testis; 4y: speaking a few words and walking" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "" "0000309215" "04212" "00417847" "00000" "Familial, autosomal recessive" "15y" "whole cohort description: most frequent manifestations: polydactyly, obesity, visual disturbance, cognitive impairment; male hypogonadism (>90% of patients); visual disturbance - early onset in most of this cohort with functional visual disability both at night and in the day present by 8y in the large majority; all older patients examined legally blind by mid-adolescence; developmental delay/cognitive impairment: whole cohort (more severe than described in more heterogeneous cohorts, where intellectual disability occurs in about two-thirds of cases and is usually mild in up to 77% of cases); type A postaxial polydactyly present in at least three limbs, suggesting a high penetrance for digital abnormalities with this mutation" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "" "0000309217" "04212" "00417848" "00000" "Familial, autosomal recessive" "10y" "born 40 weeks of gestation with vacuum extraction; no asphyxia; birth weight: 3226 g; dysmorphic features: upslanted palpebral fissure, hypertelorism, pointed chin and high arched palate as well as postaxial polydactyly of the right hand and left foot, polycystic kidneys and an atrial septum defect that was closed at 3 months of age; motor and intellectual developments delayed since early childhood; could not walk or speak a meaningful word at presentation; brain magnetic resonance imaging and electroencephalogram: no abnormalities; various blood tests, including amino acid analysis, lactate and pyruvate: limits; karyotype: normal; rumination present at the age of two but disappeared spontaneously a few years later, recurred at the age of nine, but faded out again at a later stage; ophthalmologic examination revealed severe myopia with optic disk excavation but no pigmentary degeneration of the retina; daily emotional outbreaks and sleep disturbances that required some sedative drugs, such as carbamazepine, cyproheptadine and risperidone, since early childhood; mild obesity evident, no type 2 diabetes, no hypertension; 10y: echogram of the kidneys: d a few cysts around the renal pelvis and a high echoic area in the medulla of the bilateral well-developed kidneys; estimated glomerular filtration rate normal for the age, which suggests stable kidney function" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "" "0000309222" "04212" "00417849" "00000" "Familial, autosomal recessive" "22y" "22y: suspected retinal dystrophy; best-corrected decimal acuity right/left eye: 0.1 / 0.3 OS; mild myopia and astigmatism; no nystagmus; exotropia; anterior segments normal; fundus: diffuse retinal degeneration with macular atrophy and narrowed retinal vessels; no bone-spicule pigmentation, no waxy pale optic discs; failed all the Ishihara color vision plate tests; visual field Goldmann perimetry: severe concentric constrictions; full-field electroretinograms: non-recordable under all standard stimuli and recording conditions; optical coherence tomography: thinning of the outer retinal layer, disruption of the ellipsoid line from the foveal to the surrounding area, and multiple small deposits above Bruch\'s membrane; fundus autofluorescence: punctate hypo-autofluorescent areas; previous history of surgical excision of polydactyly on her foot at 6y; central obesity (height 157.3 cm, weight 84.1 kg, body-mass index: 33.9 kg/m2); no learning disabilities; manner of speech during consultations coherent; g from a mainstream school with average grades; speech: hypernasal with poor pronunciation; hearing loss and dental anomalies not identified by school health examinations; blood pressure: 127/84 mmHg, resting heart rate: 83bpm; hyperglyceridemia (triglycerides 236 mg/dL; reference values 40-149 mg/dL), hypercholesterolemia (totalcholesterol 236 mg/dL; reference values 140-219 mg/dL),and insulin resistance; but fasting bloodglucose (106 mg/dL; reference values 70-110 mg/dL) and glycosylated hemoglobin levels (5.8 %; reference values 4.6-6.2 %) within the normal range; serum creatinine (0.80 mg/dL; reference values 0.46-0.82 mg/dL) and BUN levels (11.1 mg/dL; reference values 8.6-21.6mg/dL) normal; ultrasound examinations: no anomalies in the kidneys; liver enzymes showed increased activity owing to a fatty liver: aspartate transaminase (AST) activity: 164 U/L (reference values 10-35 U/L), alanine transaminase (ALT) activity: 235 U/L (reference values 6-30 U/L); menstrual irregularities, but secretion of gonadotropic hormone and estrogen within the normal range" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "" "0000309223" "04212" "00417850" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "" "0000309225" "04212" "00417852" "00000" "Familial, autosomal recessive" "14y" "postaxial polydactyly, obesity, micropenis, retinitis pigmentosa, and learning disability; born naturally, 38 weeks of gestation, 3710 g, bilateral postaxial polydactyly hands and feet; psychomotor development: 2m: held his head, 6m: sitting; 8m: crawling; 2y: walking; no hypotonia; 2y6m: surgical correction of polydactyly of the feet and on the left hand; delay in language development and communicative intention through signs, language therapy; 3y: first two-syllable word; sphincters control; 4y: corrected the lingual frenulum; started school at the age of two; difficulties in learning mathematics, in the construction of structured sentences and in narrative, although he managed to learn to read and write in the course of their regular education with the help strategies for inclusion and curricular adaptation; from 2y, began to have overweight, nutritional recommendations were made; 7y: hypothyroidism, administered levothyroxine; 10y: after several episodes of otitis media recurrence, myringotomy was performed; frequent falls, decreased visual acuity in twilight and in the dark; 9y: neuropediatrician suspected a syndrome Prader-Willi or Bardet-Biedl syndrome; visual evoked potentials: bilateral moderate to severe retino-cortical transmission compromised; electroretinogram: marked reponse reduction both eyes, with a minimal residual activity of the function of the cones; IQ test using the Weschler intelligence scale to children (WISC-IV), the patient obtained scores of 75 in verbal comprehension, from 71 in memory of work, 83 in processing speed, and of 61 in perceptual reasoning, for a score total 66" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "" "0000309226" "04212" "00417853" "00000" "Familial, autosomal recessive" "" "ultrasound scan performed at 17+2 weeks: dysplastic kidneys with poor bladder filling and little amniotic fluid (oligoamnios); hexadactyly of the four limbs; hyperechogenic fetal bowel (II-III degree); choroid plexus cysts; transient clubfoot attitude; the mother woman recalled that she was born with partial hexadactyly of both hands; the digit was lost spontaneously on one side and was removed surgically on the other; termination of pregnancy" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "" "0000309227" "04212" "00417854" "00000" "Familial, autosomal recessive" "" "age 35-39y" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "" "0000309228" "04212" "00417855" "00000" "Familial, autosomal recessive" "" "age 25-29y" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "" "0000309734" "04212" "00418366" "00000" "Familial, autosomal recessive" "04y" "visual problems during both day and night since early childhood; born full-term, no fetal distress; spoke at 14 months and walked at 18 months; estimate of intelligence was based on the proband\'s social performance; speech problems, uncooperative and irritable during routine examinations; learning difficulties; considered mentally retarded; best corrected visual acuity: 20/200 both eyes, refraction right / left eye: 11.0D /-10.50D; evidence of retinitis pigmentosa, including attenuation of the retinal vessels and waxy atrophy of the optic disc, appearing more severe in her right eye, few pigmentary deposits in the peripheral retina of either eye; retinal pigment epithelium mottling and choroidal sclerosis-type changes; spectral domain optical coherence tomography: structural damage in the maculae, including extensive thinning of the neuroretina, almost complete absence of inner/outer segment junctions (partially preserved in the fovea), and dystrophy of the RPE; weight: was 25 kg, height: 110 cm; trunity, body mass index (BMI) of 20.66 kg/m2, according to the obesity standards for children of corresponding age; dysmorphism with the surgical scars shown on both hands and right foot; ultrasonography and the functional tests for liver and kidneys: normal; father no signs of BBS except a surgical history of an extra digit removal from his right hand" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "" "0000311607" "04212" "00420339" "00000" "Familial, autosomal recessive" "" "significantly upregulated genes in RSs included markers of mitotic spindle checkpoint and regulation of microtubule cytoskeleton organization, suggesting possible genomic instability during mitosis; downregulation of genes involved in extracellular matrix organization and tube development, presence of very large nuclei also gH2Ax and pCHK2-positive - possible arrest in the G2/M phase of the cell cycle" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "" "0000311608" "04212" "00420340" "00000" "Familial, autosomal recessive" "" "increased number of cells expressing the DNA damage-response markers, gH2Ax and 53BP1, and the activated mitotic checkpoint protein, pCHK2; presence of very large nuclei also gH2Ax and pCHK2-positive - possible arrest in the G2/M phase of the cell cycle" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "" "0000311609" "04212" "00420341" "00000" "Familial, autosomal recessive" "" "smaller but supernumerary cilia and present abnormal accumulations of ciliary proteins" "" "" "" "" "" "" "" "" "" "" "Meckel syndrome" "" "" "0000312083" "04212" "00420836" "00000" "Familial, autosomal recessive" "11m" "voracious appetite, noisy breathing and snoring; excessive weight gain and weak cry from 4 months of age; mild developmental delay; caesarean section, birth weight 3500 g, smooth perinatal transition; 11m: vitals stable, weight: 15kg ( +4.4z-score), length: 77 cm (+0.56z-score), body mass index: 24.8 (+5.03z-score) head circumference: 48 cm (+1.52 z-score); craniofacial dysmorphism in the form of brachycephaly, wide and deep set eyes, long smooth philtrum, depressed nasal bridge micrognathia, retrognathia, stubby built, bilateral epicanthic folds, polydactyly in both hands, syndactyly of third and fourth fingers in right hand, hepatomegaly, short systolic murmer, short penis with testicular volume of 2 cc; dysphonia; bronchoscopy: bifid epiglottis, laryngeal web and membrane between vocal cords and small glottis chink; ultrasonography of abdomen: enlarged kidneys" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "" "0000336224" "00198" "00447025" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "" "0000336638" "00198" "00447439" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000336716" "00198" "00447517" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "" "0000336731" "00198" "00447532" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000349804" "00198" "00462305" "00006" "Familial, autosomal recessive" "" "20gw-postaxial polydactyly, large hyperechogenic kidneys" "" "" "" "" "" "" "" "" "" "" "" "suspected ciliopathy" "" ## Screenings ## Do not remove or alter this header ## ## Count = 307 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000024239" "00024245" "1" "00705" "00705" "2014-11-10 12:08:23" "" "" "arraySNP" "DNA" "" "" "0000034099" "00034031" "1" "00006" "00006" "2015-03-08 21:27:49" "" "" "SEQ" "DNA" "" "" "0000034102" "00034034" "1" "00006" "00006" "2015-03-08 21:57:26" "" "" "SEQ" "DNA" "" "" "0000063400" "00063269" "1" "01581" "01581" "2016-04-14 00:07:21" "" "" "SEQ" "DNA" "Blood" "" "0000095509" "00095110" "1" "01586" "01586" "2017-01-06 12:33:41" "" "" "SEQ-NG" "DNA" "" "" "0000230683" "00229590" "1" "01807" "01807" "2019-04-04 13:49:06" "" "" "SEQ" "DNA" "" "" "0000291964" "00290796" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296612" "00295444" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000309621" "00308476" "1" "00004" "00006" "2020-08-27 13:01:07" "" "" "SEQ" "DNA" "" "" "0000309622" "00308477" "1" "00004" "00006" "2020-08-27 13:01:07" "" "" "SEQ" "DNA" "" "" "0000309783" "00308638" "1" "00004" "00006" "2020-08-27 13:01:07" "" "" "SEQ" "DNA" "" "" "0000310102" "00308957" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000326645" "00325434" "1" "00006" "00006" "2021-01-03 11:36:11" "" "" "SEQ;SEQ-NG" "DNA" "" "199 gene panel" "0000329263" "00328048" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000335036" "00333810" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" "" "0000335308" "00334082" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" "" "0000335309" "00334083" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" "" "0000360043" "00358813" "1" "00000" "00006" "2021-03-12 18:57:14" "" "" "arrayCGH;PCRlr;SEQ-NG" "DNA" "" "" "0000360046" "00358816" "1" "00000" "00006" "2021-03-12 18:57:14" "" "" "arrayCGH;PCRlr;SEQ-NG" "DNA" "" "" "0000360048" "00358818" "1" "00000" "00006" "2021-03-12 18:57:14" "" "" "arrayCGH;PCRlr;SEQ-NG" "DNA" "" "" "0000360201" "00358964" "1" "00000" "00006" "2021-03-18 12:15:00" "" "" "SEQ-NG" "DNA" "" "WES" "0000360207" "00358970" "1" "00000" "00006" "2021-03-18 12:15:00" "" "" "SEQ-NG" "DNA" "" "WES" "0000360267" "00359029" "1" "00000" "00006" "2021-03-18 16:44:20" "" "" "SEQ" "DNA" "" "105-gene panel" "0000360626" "00359384" "1" "00000" "00006" "2021-03-19 18:50:51" "" "" "SEQ-NG" "DNA" "" "64-gene panel" "0000364653" "00363425" "1" "00000" "00006" "2021-04-27 10:42:53" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000364656" "00363428" "1" "00000" "00006" "2021-04-27 10:42:53" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000364659" "00363431" "1" "00000" "00006" "2021-04-27 10:42:53" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000364664" "00363436" "1" "00000" "00006" "2021-04-27 10:42:53" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000364939" "00363711" "1" "00000" "00006" "2021-04-29 16:11:05" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000364976" "00363748" "1" "00000" "00006" "2021-04-29 16:11:05" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000375110" "00373878" "1" "00000" "00006" "2021-05-21 15:01:30" "" "" "SEQ-NG" "DNA" "" "238-gene panel" "0000375111" "00373879" "1" "00000" "00006" "2021-05-21 15:01:30" "" "" "SEQ-NG" "DNA" "" "238-gene panel" "0000375184" "00373952" "1" "00000" "00006" "2021-05-21 15:48:04" "" "" "SEQ-NG" "DNA" "" "" "0000380569" "00379369" "1" "00000" "00008" "2021-08-05 00:17:46" "" "" "SEQ" "DNA" "blood" "" "0000380738" "00379538" "1" "03508" "03508" "2021-08-05 08:11:01" "" "" "SEQ-NG-I" "DNA" "" "" "0000381013" "00379811" "1" "00000" "03840" "2021-08-10 08:08:19" "" "" "SEQ-NG" "DNA" "" "exome sequencing" "0000381569" "00380355" "1" "00000" "00008" "2021-08-13 14:56:11" "" "" "SEQ" "DNA" "blood" "" "0000383429" "00382215" "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" "0000383430" "00382216" "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" "0000383564" "00382350" "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" "0000383700" "00382486" "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" "0000383816" "00382602" "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" "0000384298" "00383074" "1" "00000" "00008" "2021-09-23 02:25:49" "" "" "SEQ" "DNA" "blood" "" "0000384305" "00383081" "1" "00000" "00008" "2021-09-23 02:25:49" "" "" "SEQ" "DNA" "blood" "" "0000384349" "00383125" "1" "00000" "00008" "2021-09-23 02:25:49" "" "" "microsat;SEQ" "DNA" "blood" "Whole-genome scan microsatellite analysis" "0000384350" "00383126" "1" "00000" "00008" "2021-09-23 02:25:49" "" "" "microsat;SEQ" "DNA" "blood" "Whole-genome scan microsatellite analysis" "0000384351" "00383127" "1" "00000" "00008" "2021-09-23 02:25:49" "" "" "microsat;SEQ" "DNA" "blood" "Whole-genome scan microsatellite analysis" "0000384352" "00383128" "1" "00000" "00008" "2021-09-23 02:25:49" "" "" "microsat;SEQ" "DNA" "blood" "Whole-genome scan microsatellite analysis" "0000384355" "00383131" "1" "00000" "00008" "2021-09-23 02:25:49" "" "" "microsat;SEQ" "DNA" "blood" "Whole-genome scan microsatellite analysis" "0000384358" "00383134" "1" "00000" "00008" "2021-09-23 02:25:49" "" "" "arraySNP;PCR" "DNA;RNA" "blood" "" "0000384363" "00383139" "1" "00000" "00008" "2021-09-23 02:25:49" "" "" "arraySNP;PCR" "DNA;RNA" "blood" "" "0000384379" "00383155" "1" "00000" "00008" "2021-09-23 02:25:49" "" "" "arraySNP;PCR" "DNA;RNA" "blood" "" "0000384410" "00383186" "1" "00000" "00008" "2021-09-28 01:33:29" "" "" "SEQ;PCR" "DNA" "" "" "0000384412" "00383188" "1" "00000" "00008" "2021-09-28 01:33:29" "" "" "SEQ;PCR" "DNA" "" "" "0000384413" "00383189" "1" "00000" "00008" "2021-09-28 01:33:29" "" "" "SEQ;PCR" "DNA" "" "" "0000384417" "00383193" "1" "00000" "00008" "2021-09-28 01:33:29" "" "" "SEQ;PCR" "DNA" "" "" "0000384424" "00383200" "1" "00000" "00008" "2021-09-28 01:33:29" "" "" "SEQ" "DNA" "blood" "" "0000384425" "00383201" "1" "00000" "00008" "2021-09-28 01:33:29" "" "" "SEQ" "DNA" "blood" "" "0000384471" "00383247" "1" "00000" "00008" "2021-09-28 01:33:29" "" "" "arraySNP;SEQ" "DNA" "blood" "" "0000384473" "00383249" "1" "00000" "00008" "2021-09-28 01:33:29" "" "" "arraySNP;SEQ" "DNA" "blood" "" "0000384474" "00383250" "1" "00000" "00008" "2021-09-28 01:33:29" "" "" "SEQ" "DNA" "blood" "" "0000384475" "00383251" "1" "00000" "00008" "2021-09-28 01:33:29" "" "" "SEQ" "DNA" "blood" "" "0000384476" "00383252" "1" "00000" "00008" "2021-09-28 01:33:29" "" "" "SEQ" "DNA" "blood" "" "0000384477" "00383253" "1" "00000" "00008" "2021-09-28 01:33:29" "" "" "SEQ" "DNA" "blood" "" "0000384478" "00383254" "1" "00000" "00008" "2021-09-28 01:33:29" "" "" "SEQ" "DNA" "blood" "" "0000384479" "00383255" "1" "00000" "00008" "2021-09-28 01:33:29" "" "" "SEQ" "DNA" "blood" "" "0000384480" "00383256" "1" "00000" "00008" "2021-09-28 01:33:29" "" "" "SEQ" "DNA" "blood" "" "0000384481" "00383257" "1" "00000" "00008" "2021-09-28 01:33:29" "" "" "SEQ" "DNA" "blood" "" "0000384482" "00383258" "1" "00000" "00008" "2021-09-28 01:33:29" "" "" "SEQ" "DNA" "blood" "" "0000384483" "00383259" "1" "00000" "00008" "2021-09-28 01:33:29" "" "" "SEQ" "DNA" "blood" "" "0000384484" "00383260" "1" "00000" "00008" "2021-09-28 01:33:29" "" "" "SEQ" "DNA" "blood" "" "0000384485" "00383261" "1" "00000" "00008" "2021-09-28 01:33:29" "" "" "SEQ" "DNA" "blood" "" "0000384486" "00383262" "1" "00000" "00008" "2021-09-28 01:33:29" "" "" "SEQ" "DNA" "blood" "" "0000384487" "00383263" "1" "00000" "00008" "2021-09-28 01:33:29" "" "" "SEQ" "DNA" "blood" "" "0000384488" "00383264" "1" "00000" "00008" "2021-09-28 01:33:29" "" "" "SEQ" "DNA" "blood" "" "0000384489" "00383265" "1" "00000" "00008" "2021-09-28 01:33:29" "" "" "SEQ" "DNA" "blood" "" "0000384490" "00383266" "1" "00000" "00008" "2021-09-28 01:33:29" "" "" "SEQ" "DNA" "blood" "" "0000384491" "00383267" "1" "00000" "00008" "2021-09-28 01:33:29" "" "" "SEQ" "DNA" "blood" "" "0000384492" "00383268" "1" "00000" "00008" "2021-09-28 01:33:29" "" "" "SEQ" "DNA" "blood" "" "0000384493" "00383269" "1" "00000" "00008" "2021-09-28 01:33:29" "" "" "SEQ" "DNA" "blood" "" "0000384494" "00383270" "1" "00000" "00008" "2021-09-28 01:33:29" "" "" "SEQ" "DNA" "blood" "" "0000384508" "00383284" "1" "00000" "00008" "2021-09-29 07:02:49" "" "" "DHPLC;arraySNP;RT-PCR" "DNA;RNA" "blood" "" "0000384509" "00383285" "1" "00000" "00008" "2021-09-29 07:02:49" "" "" "DHPLC;arraySNP;RT-PCR" "DNA;RNA" "blood" "" "0000384512" "00383288" "1" "00000" "00008" "2021-09-29 07:02:49" "" "" "DHPLC;arraySNP;RT-PCR" "DNA;RNA" "blood" "" "0000384514" "00383290" "1" "00000" "00008" "2021-09-29 07:02:49" "" "" "DHPLC;arraySNP;RT-PCR" "DNA;RNA" "blood" "" "0000384515" "00383291" "1" "00000" "00008" "2021-09-29 07:02:49" "" "" "DHPLC;arraySNP;RT-PCR" "DNA;RNA" "blood" "" "0000384519" "00383295" "1" "00000" "00008" "2021-09-29 07:02:49" "" "" "DHPLC;arraySNP;RT-PCR" "DNA;RNA" "blood" "" "0000384521" "00383297" "1" "00000" "00008" "2021-09-29 07:02:49" "" "" "DHPLC;arraySNP;RT-PCR" "DNA;RNA" "blood" "" "0000384540" "00383316" "1" "00000" "00008" "2021-09-29 07:02:49" "" "" "DHPLC;arraySNP;RT-PCR" "DNA;RNA" "blood" "" "0000384541" "00383317" "1" "00000" "00008" "2021-09-29 07:02:49" "" "" "DHPLC;arraySNP;RT-PCR" "DNA;RNA" "blood" "" "0000384878" "00383653" "1" "00000" "03840" "2021-09-29 12:18:14" "" "" "SEQ-NG;SEQ" "DNA" "blood;saliva" "panel containing 18 BBS genes" "0000384881" "00383656" "1" "00000" "03840" "2021-09-29 12:18:14" "" "" "SEQ-NG;SEQ" "DNA" "blood;saliva" "panel containing 18 BBS genes" "0000384883" "00383658" "1" "00000" "03840" "2021-09-29 12:18:14" "" "" "SEQ-NG;SEQ" "DNA" "blood;saliva" "panel containing 18 BBS genes" "0000384884" "00383659" "1" "00000" "03840" "2021-09-29 12:18:14" "" "" "SEQ-NG;SEQ" "DNA" "blood;saliva" "panel containing 18 BBS genes" "0000384886" "00383661" "1" "00000" "03840" "2021-09-29 12:18:14" "" "" "SEQ-NG;SEQ" "DNA" "blood;saliva" "panel containing 18 BBS genes" "0000385867" "00384639" "1" "00000" "03840" "2021-10-04 14:30:22" "" "" "SEQ-NG" "DNA" "" "BBS related genes panel; retrospective analysis" "0000385868" "00384640" "1" "00000" "03840" "2021-10-04 14:30:22" "" "" "SEQ-NG" "DNA" "" "BBS related genes panel; retrospective analysis" "0000385869" "00384641" "1" "00000" "03840" "2021-10-04 14:30:22" "" "" "SEQ-NG" "DNA" "" "BBS related genes panel; retrospective analysis" "0000385870" "00384642" "1" "00000" "03840" "2021-10-04 14:30:22" "" "" "SEQ-NG" "DNA" "" "BBS related genes panel; retrospective analysis" "0000385871" "00384643" "1" "00000" "03840" "2021-10-04 14:30:22" "" "" "SEQ-NG" "DNA" "" "BBS related genes panel; retrospective analysis" "0000385911" "00384685" "1" "00000" "00008" "2021-10-05 15:28:49" "" "" "SEQ" "DNA" "blood" "" "0000385912" "00384686" "1" "00000" "00008" "2021-10-05 15:28:49" "" "" "SEQ" "DNA" "blood" "" "0000385913" "00384687" "1" "00000" "00008" "2021-10-05 15:28:49" "" "" "SEQ" "DNA" "blood" "" "0000385914" "00384688" "1" "00000" "00008" "2021-10-05 15:28:49" "" "" "SEQ" "DNA" "blood" "" "0000385915" "00384689" "1" "00000" "00008" "2021-10-05 15:28:49" "" "" "SEQ" "DNA" "blood" "" "0000385916" "00384690" "1" "00000" "00008" "2021-10-05 15:28:49" "" "" "SEQ" "DNA" "blood" "" "0000385917" "00384691" "1" "00000" "00008" "2021-10-05 15:28:49" "" "" "SEQ" "DNA" "blood" "" "0000385918" "00384692" "1" "00000" "00008" "2021-10-05 15:28:49" "" "" "SEQ" "DNA" "blood" "" "0000385919" "00384693" "1" "00000" "00008" "2021-10-05 15:28:49" "" "" "SEQ" "DNA" "blood" "" "0000385920" "00384694" "1" "00000" "00008" "2021-10-05 15:28:49" "" "" "SEQ" "DNA" "blood" "" "0000385921" "00384695" "1" "00000" "00008" "2021-10-05 15:28:49" "" "" "SEQ" "DNA" "blood" "" "0000385922" "00384696" "1" "00000" "00008" "2021-10-05 15:28:49" "" "" "SEQ" "DNA" "blood" "" "0000385923" "00384697" "1" "00000" "00008" "2021-10-05 15:28:49" "" "" "SEQ" "DNA" "blood" "" "0000385924" "00384698" "1" "00000" "00008" "2021-10-05 15:28:49" "" "" "SEQ" "DNA" "blood" "" "0000385925" "00384699" "1" "00000" "00008" "2021-10-05 15:28:49" "" "" "SEQ" "DNA" "blood" "" "0000385926" "00384700" "1" "00000" "00008" "2021-10-05 15:28:49" "" "" "SEQ" "DNA" "blood" "" "0000385934" "00384708" "1" "00000" "00008" "2021-10-05 15:28:49" "" "" "SEQ" "DNA" "blood" "" "0000385935" "00384709" "1" "00000" "00008" "2021-10-05 15:28:49" "" "" "SEQ" "DNA" "blood" "" "0000385936" "00384710" "1" "00000" "00008" "2021-10-05 15:28:49" "" "" "SEQ" "DNA" "blood" "" "0000385937" "00384711" "1" "00000" "00008" "2021-10-05 15:28:49" "" "" "SEQ" "DNA" "blood" "" "0000385938" "00384712" "1" "00000" "00008" "2021-10-05 15:28:49" "" "" "SEQ" "DNA" "blood" "" "0000385939" "00384713" "1" "00000" "00008" "2021-10-05 15:28:49" "" "" "SEQ" "DNA" "blood" "" "0000385940" "00384714" "1" "00000" "00008" "2021-10-05 15:28:49" "" "" "SEQ" "DNA" "blood" "" "0000385941" "00384715" "1" "00000" "00008" "2021-10-05 15:28:49" "" "" "SEQ" "DNA" "blood" "" "0000385943" "00384717" "1" "00000" "00008" "2021-10-05 15:28:49" "" "" "SEQ" "DNA" "blood" "" "0000385947" "00384721" "1" "00000" "00008" "2021-10-05 15:28:49" "" "" "SEQ" "DNA" "blood" "" "0000385948" "00384722" "1" "00000" "00008" "2021-10-05 15:28:49" "" "" "SEQ" "DNA" "blood" "" "0000385949" "00384723" "1" "00000" "00008" "2021-10-05 15:28:49" "" "" "SEQ" "DNA" "blood" "" "0000385950" "00384724" "1" "00000" "00008" "2021-10-05 15:28:49" "" "" "SEQ" "DNA" "blood" "" "0000385951" "00384725" "1" "00000" "00008" "2021-10-05 15:28:49" "" "" "SEQ" "DNA" "blood" "" "0000385961" "00384735" "1" "00000" "00008" "2021-10-05 15:28:49" "" "" "SEQ" "DNA" "blood" "" "0000385962" "00384736" "1" "00000" "00008" "2021-10-05 15:28:49" "" "" "SEQ" "DNA" "blood" "" "0000386018" "00384792" "1" "00000" "00008" "2021-10-05 15:28:49" "" "" "arraySNP;SEQ;RT-PCR" "DNA;RNA" "blood" "" "0000386034" "00384808" "1" "00000" "00008" "2021-10-05 15:28:49" "" "" "arraySNP;SEQ;RT-PCR" "DNA;RNA" "blood" "" "0000386054" "00384828" "1" "00000" "00008" "2021-10-05 15:28:49" "" "" "arraySNP;SEQ;RT-PCR" "DNA;RNA" "blood" "" "0000386061" "00384835" "1" "00000" "00008" "2021-10-05 15:28:49" "" "" "arraySNP;SEQ;RT-PCR" "DNA;RNA" "blood" "" "0000386062" "00384836" "1" "00000" "00008" "2021-10-05 15:28:49" "" "" "arraySNP;SEQ;RT-PCR" "DNA;RNA" "blood" "" "0000386063" "00384837" "1" "00000" "00008" "2021-10-05 15:28:49" "" "" "arraySNP;SEQ;RT-PCR" "DNA;RNA" "blood" "" "0000386329" "00385100" "1" "00000" "03840" "2021-10-07 09:30:13" "" "" "SEQ-NG-IT;SEQ" "DNA" "blood" "whole exome sequencing" "0000386330" "00385101" "1" "00000" "03840" "2021-10-07 09:30:13" "" "" "SEQ-NG-IT;SEQ" "DNA" "blood" "whole exome sequencing" "0000386410" "00385181" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "SEQ" "DNA" "blood" "" "0000386411" "00385182" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "SEQ" "DNA" "blood" "" "0000386412" "00385183" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "SEQ" "DNA" "blood" "" "0000386431" "00385202" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "SEQ" "DNA" "blood" "" "0000386432" "00385203" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "SEQ" "DNA" "blood" "" "0000386433" "00385204" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "SEQ" "DNA" "blood" "" "0000386434" "00385205" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "SEQ" "DNA" "blood" "" "0000386435" "00385206" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "SEQ" "DNA" "blood" "" "0000386436" "00385207" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "SEQ" "DNA" "blood" "" "0000386437" "00385208" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "SEQ" "DNA" "blood" "" "0000386438" "00385209" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "SEQ" "DNA" "blood" "" "0000386439" "00385210" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "SEQ" "DNA" "blood" "" "0000386440" "00385211" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "SEQ" "DNA" "blood" "" "0000386441" "00385212" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "SEQ" "DNA" "blood" "" "0000386462" "00385233" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "arrayCNV;SEQ" "DNA" "blood" "" "0000386472" "00385243" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "arrayCNV;SEQ" "DNA" "blood" "" "0000386473" "00385244" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "arrayCNV;SEQ" "DNA" "blood" "" "0000386474" "00385245" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "arrayCNV;SEQ" "DNA" "blood" "" "0000386485" "00385256" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "arrayCNV;SEQ" "DNA" "blood" "" "0000386487" "00385258" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "SEQ" "DNA" "" "" "0000386489" "00385260" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "SEQ" "DNA" "" "" "0000386490" "00385261" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "SEQ" "DNA" "" "" "0000386516" "00385287" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "SEQ" "DNA" "" "targeted exon capture strategy" "0000386537" "00385308" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "PCR" "DNA" "" "" "0000386538" "00385309" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "PCR" "DNA" "" "" "0000386539" "00385310" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "PCR" "DNA" "" "" "0000386540" "00385311" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "PCR" "DNA" "" "" "0000386541" "00385312" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "PCR" "DNA" "" "" "0000386552" "00385323" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "PCR" "DNA" "" "" "0000386553" "00385324" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "PCR" "DNA" "" "" "0000386585" "00385356" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "?" "?" "blood" "" "0000386586" "00385357" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "?" "?" "blood" "" "0000386587" "00385358" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "?" "?" "blood" "" "0000386588" "00385359" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "?" "?" "blood" "" "0000386589" "00385360" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "PCR" "DNA" "" "" "0000386590" "00385361" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "PCR" "DNA" "" "" "0000386591" "00385362" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "PCR" "DNA" "" "" "0000386592" "00385363" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "PCR" "DNA" "" "" "0000386593" "00385364" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "PCR" "DNA" "" "" "0000386594" "00385365" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "PCR" "DNA" "" "" "0000386595" "00385366" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "PCR" "DNA" "" "" "0000386596" "00385367" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "PCR" "DNA" "" "" "0000386597" "00385368" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "PCR" "DNA" "" "" "0000386598" "00385369" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "PCR" "DNA" "" "" "0000386599" "00385370" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "PCR" "DNA" "" "" "0000386600" "00385371" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "PCR" "DNA" "" "" "0000386601" "00385372" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "PCR" "DNA" "" "" "0000386602" "00385373" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "PCR" "DNA" "" "" "0000386604" "00385375" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "PCR" "DNA" "" "" "0000386618" "00385389" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "?" "?" "blood" "" "0000386619" "00385390" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "?" "?" "blood" "" "0000386789" "00385560" "1" "00000" "00008" "2021-10-13 10:28:12" "" "" "SEQ;HD" "DNA" "" "SEQ or HD" "0000386795" "00385566" "1" "00000" "00008" "2021-10-13 10:28:12" "" "" "SEQ;HD" "DNA" "" "SEQ or HD" "0000386796" "00385567" "1" "00000" "00008" "2021-10-13 10:28:12" "" "" "SEQ;HD" "DNA" "" "SEQ or HD" "0000386797" "00385568" "1" "00000" "00008" "2021-10-13 10:28:12" "" "" "SEQ;HD" "DNA" "" "SEQ or HD" "0000386799" "00385570" "1" "00000" "00008" "2021-10-13 10:28:12" "" "" "SEQ;HD" "DNA" "" "SEQ or HD" "0000386800" "00385571" "1" "00000" "00008" "2021-10-13 10:28:12" "" "" "SEQ;HD" "DNA" "" "SEQ or HD" "0000386805" "00385576" "1" "00000" "00008" "2021-10-13 10:28:12" "" "" "SEQ;HD" "DNA" "" "SEQ or HD" "0000386806" "00385577" "1" "00000" "00008" "2021-10-13 10:28:12" "" "" "SEQ;HD" "DNA" "" "SEQ or HD" "0000386813" "00385584" "1" "00000" "00008" "2021-10-13 10:28:12" "" "" "SEQ;HD" "DNA" "" "SEQ or HD" "0000386814" "00385585" "1" "00000" "00008" "2021-10-13 10:28:12" "" "" "SEQ;HD" "DNA" "" "SEQ or HD" "0000386815" "00385586" "1" "00000" "00008" "2021-10-13 10:28:12" "" "" "SEQ;HD" "DNA" "" "SEQ or HD" "0000386816" "00385587" "1" "00000" "00008" "2021-10-13 10:28:12" "" "" "SEQ;HD" "DNA" "" "SEQ or HD" "0000386832" "00385603" "1" "00000" "00008" "2021-10-13 10:28:12" "" "" "SEQ" "DNA" "" "" "0000386854" "00385625" "1" "00000" "00008" "2021-10-13 10:28:12" "" "" "arraySNP" "DNA" "" "RD-xip" "0000386856" "00385627" "1" "00000" "00008" "2021-10-13 10:28:12" "" "" "SEQ-NG" "DNA" "" "WES" "0000386857" "00385628" "1" "00000" "00008" "2021-10-13 10:28:12" "" "" "SEQ-NG" "DNA" "" "" "0000386865" "00385636" "1" "00000" "00008" "2021-10-13 10:28:12" "" "" "arrayCGH;SEQ;TaqMan" "DNA" "" "" "0000386866" "00385637" "1" "00000" "00008" "2021-10-13 10:28:12" "" "" "arrayCGH;SEQ;TaqMan" "DNA" "" "" "0000386870" "00385641" "1" "00000" "00008" "2021-10-13 10:28:12" "" "" "arrayCGH;SEQ;TaqMan" "DNA" "" "" "0000386871" "00385642" "1" "00000" "00008" "2021-10-13 10:28:12" "" "" "arrayCGH;SEQ;TaqMan" "DNA" "" "" "0000387203" "00385975" "1" "00000" "00008" "2021-10-19 12:24:34" "" "" "PCR" "DNA" "blood" "" "0000387204" "00385976" "1" "00000" "00008" "2021-10-19 12:24:34" "" "" "PCR" "DNA" "blood" "" "0000387205" "00385977" "1" "00000" "00008" "2021-10-19 12:24:34" "" "" "PCR" "DNA" "blood" "" "0000387206" "00385978" "1" "00000" "00008" "2021-10-19 12:24:34" "" "" "PCR" "DNA" "blood" "" "0000387207" "00385979" "1" "00000" "00008" "2021-10-19 12:24:34" "" "" "PCR" "DNA" "blood" "" "0000388703" "00387477" "1" "00000" "00008" "2021-10-29 21:32:58" "" "" "SEQ" "DNA" "blood" "" "0000388704" "00387478" "1" "00000" "00008" "2021-10-29 21:32:58" "" "" "SEQ" "DNA" "blood" "" "0000388705" "00387479" "1" "00000" "00008" "2021-10-29 21:32:58" "" "" "SEQ" "DNA" "blood" "" "0000388706" "00387480" "1" "00000" "00008" "2021-10-29 21:32:58" "" "" "SEQ" "DNA" "blood" "" "0000388707" "00387481" "1" "00000" "00008" "2021-10-29 21:32:58" "" "" "SEQ" "DNA" "blood" "" "0000388708" "00387482" "1" "00000" "00008" "2021-10-29 21:32:58" "" "" "SEQ" "DNA" "blood" "" "0000388709" "00387483" "1" "00000" "00008" "2021-10-29 21:32:58" "" "" "SEQ" "DNA" "blood" "" "0000388710" "00387484" "1" "00000" "00008" "2021-10-29 21:32:58" "" "" "SEQ" "DNA" "blood" "" "0000388711" "00387485" "1" "00000" "00008" "2021-10-29 21:32:58" "" "" "SEQ" "DNA" "blood" "" "0000388772" "00387546" "1" "00000" "00008" "2021-10-29 21:32:58" "" "" "arraySNP;SEQ-NG;PCR" "DNA" "blood" "" "0000388773" "00387547" "1" "00000" "00008" "2021-10-29 21:32:58" "" "" "arraySNP;SEQ-NG;PCR" "DNA" "blood" "" "0000388806" "00387580" "1" "00000" "00008" "2021-10-29 21:32:58" "" "" "SEQ;SEQ-NG" "DNA" "blood" "targeted exome sequencing" "0000388807" "00387581" "1" "00000" "00008" "2021-10-29 21:32:58" "" "" "SEQ;SEQ-NG" "DNA" "blood" "targeted exome sequencing" "0000388810" "00387584" "1" "00000" "00008" "2021-10-29 21:32:58" "" "" "SEQ;SEQ-NG" "DNA" "blood" "targeted exome sequencing" "0000388811" "00387585" "1" "00000" "00008" "2021-10-29 21:32:58" "" "" "SEQ;SEQ-NG" "DNA" "blood" "targeted exome sequencing" "0000388812" "00387586" "1" "00000" "00008" "2021-10-29 21:32:58" "" "" "SEQ;SEQ-NG" "DNA" "blood" "targeted exome sequencing" "0000388813" "00387587" "1" "00000" "00008" "2021-10-29 21:32:58" "" "" "SEQ;SEQ-NG" "DNA" "blood" "targeted exome sequencing" "0000389265" "00388026" "1" "00000" "00008" "2021-11-02 00:52:48" "00008" "2021-11-04 08:55:19" "SEQ-NG;arrayCGH;SEQ" "DNA" "blood" "" "0000389285" "00388046" "1" "00000" "00008" "2021-11-02 00:52:48" "00008" "2021-11-04 08:55:19" "arraySNP" "DNA" "blood" "BBS-ALMS1 mutation array" "0000389286" "00388047" "1" "00000" "00008" "2021-11-02 00:52:48" "00008" "2021-11-04 08:55:19" "arraySNP" "DNA" "blood" "BBS-ALMS1 mutation array" "0000389287" "00388048" "1" "00000" "00008" "2021-11-02 00:52:48" "00008" "2021-11-04 08:55:19" "arraySNP" "DNA" "blood" "BBS-ALMS1 mutation array" "0000389288" "00388049" "1" "00000" "00008" "2021-11-02 00:52:48" "00008" "2021-11-04 08:55:19" "arraySNP" "DNA" "blood" "BBS-ALMS1 mutation array" "0000389541" "00388300" "1" "00000" "03840" "2021-11-03 23:16:48" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "targeted panel-based next-generation sequencing, 441 hereditary eye disease genes" "0000389542" "00388301" "1" "00000" "03840" "2021-11-03 23:16:48" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "targeted panel-based next-generation sequencing, 441 hereditary eye disease genes" "0000389555" "00388314" "1" "00000" "00008" "2021-11-04 08:27:28" "" "" "arraySNP;SEQ" "DNA" "blood" "" "0000389556" "00388315" "1" "00000" "00008" "2021-11-04 08:27:28" "" "" "arraySNP;SEQ" "DNA" "blood" "" "0000389774" "00388532" "1" "00000" "03840" "2021-11-04 13:39:46" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "whole exome sequencing" "0000389775" "00388533" "1" "00000" "03840" "2021-11-04 13:39:46" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "whole exome sequencing" "0000389982" "00388739" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET2 targeted sequencing panel - see paper" "0000389988" "00388745" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET8 targeted sequencing panel - see paper" "0000389989" "00388746" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET3 targeted sequencing panel - see paper" "0000390054" "00388811" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET4 targeted sequencing panel - see paper" "0000390058" "00388815" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET5 targeted sequencing panel - see paper" "0000390060" "00388817" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET5 targeted sequencing panel - see paper" "0000390067" "00388824" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET6 targeted sequencing panel - see paper" "0000390088" "00388845" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET8 targeted sequencing panel - see paper" "0000390246" "00389003" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET4 targeted sequencing panel - see paper" "0000391414" "00390173" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing" "0000392071" "00390830" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "PCR;SEQ" "DNA" "blood" "" "0000392072" "00390831" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "PCR;SEQ" "DNA" "blood" "" "0000392459" "00391217" "1" "00000" "03840" "2021-11-13 19:05:38" "" "" "SEQ-NG-I" "DNA" "blood" "whole exome sequencing" "0000394730" "00393482" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG" "DNA" "" "WES" "0000395716" "00394469" "1" "00000" "00008" "2021-12-02 08:42:19" "" "" "SEQ-NG" "DNA" "blood" "" "0000395720" "00394473" "1" "00000" "00008" "2021-12-02 08:42:19" "" "" "SEQ-NG" "DNA" "blood" "" "0000395725" "00394478" "1" "00000" "00008" "2021-12-02 08:42:19" "" "" "SEQ-NG" "DNA" "blood" "" "0000396277" "00395031" "1" "00000" "03840" "2021-12-03 13:19:14" "" "" "SEQ-NG" "DNA" "blood" "115 genes causing different inherited kidney diseases" "0000396281" "00395035" "1" "00000" "03840" "2021-12-03 13:19:14" "" "" "SEQ-NG" "DNA" "blood" "115 genes causing different inherited kidney diseases" "0000396287" "00395041" "1" "00000" "03840" "2021-12-03 13:19:14" "" "" "SEQ-NG" "DNA" "blood" "115 genes causing different inherited kidney diseases" "0000397838" "00396595" "1" "00000" "00008" "2021-12-16 13:33:12" "" "" "SEQ" "DNA" "" "" "0000397840" "00396597" "1" "00000" "00008" "2021-12-16 13:33:12" "" "" "SEQ" "DNA" "" "" "0000397842" "00396599" "1" "00000" "00008" "2021-12-16 13:33:12" "" "" "SEQ" "DNA" "" "" "0000397844" "00396601" "1" "00000" "00008" "2021-12-16 13:33:12" "" "" "SEQ" "DNA" "" "" "0000397846" "00396603" "1" "00000" "00008" "2021-12-16 13:33:12" "" "" "SEQ" "DNA" "" "" "0000397848" "00396605" "1" "00000" "00008" "2021-12-16 13:33:12" "" "" "SEQ" "DNA" "" "" "0000397850" "00396607" "1" "00000" "00008" "2021-12-16 13:33:12" "" "" "SEQ" "DNA" "" "" "0000397852" "00396609" "1" "00000" "00008" "2021-12-16 13:33:12" "" "" "SEQ" "DNA" "" "" "0000397854" "00396611" "1" "00000" "00008" "2021-12-16 13:33:12" "" "" "SEQ" "DNA" "" "" "0000405509" "00404270" "1" "00006" "00006" "2022-02-28 08:03:42" "" "" "SEQ" "DNA" "" "" "0000413754" "00412484" "1" "00000" "03840" "2022-06-29 13:33:34" "" "" "SEQ-NG;SEQ" "DNA" "blood" "whole-exome sequencing" "0000413755" "00412485" "1" "00000" "03840" "2022-06-29 13:33:34" "" "" "SEQ-NG;SEQ" "DNA" "blood" "whole-exome sequencing" "0000418805" "00417512" "1" "00000" "03840" "2022-09-18 20:43:24" "" "" "arraySNP;SEQ" "DNA" "" "" "0000418806" "00417513" "1" "00000" "03840" "2022-09-18 20:43:24" "" "" "arraySNP;SEQ" "DNA" "" "" "0000419130" "00417835" "1" "00000" "03840" "2022-09-26 11:46:56" "" "" "arraySNP;SEQ" "DNA" "blood" "" "0000419131" "00417836" "1" "00000" "03840" "2022-09-26 11:46:56" "" "" "arraySNP;SEQ" "DNA" "blood" "" "0000419132" "00417837" "1" "00000" "03840" "2022-09-26 11:46:56" "" "" "arraySNP;SEQ" "DNA" "blood" "" "0000419133" "00417838" "1" "00000" "03840" "2022-09-26 11:46:56" "" "" "arraySNP;SEQ" "DNA" "blood" "" "0000419134" "00417839" "1" "00000" "03840" "2022-09-26 12:41:35" "" "" "SEQ" "DNA" "blood" "" "0000419135" "00417840" "1" "00000" "03840" "2022-09-26 12:41:35" "" "" "SEQ" "DNA" "frozen fetal tissues" "" "0000419136" "00417841" "1" "00000" "03840" "2022-09-26 12:41:35" "" "" "SEQ" "DNA" "frozen fetal tissues" "" "0000419137" "00417842" "1" "00000" "03840" "2022-09-26 12:41:35" "" "" "SEQ" "DNA" "frozen fetal tissues" "" "0000419138" "00417843" "1" "00000" "03840" "2022-09-26 12:41:35" "" "" "SEQ" "DNA" "frozen fetal tissues" "" "0000419140" "00417845" "1" "00000" "03840" "2022-09-26 13:49:08" "" "" "SEQ" "DNA" "blood" "" "0000419141" "00417846" "1" "00000" "03840" "2022-09-26 13:49:08" "" "" "SEQ" "DNA" "blood" "" "0000419142" "00417847" "1" "00000" "03840" "2022-09-26 14:05:51" "" "" "SEQ" "DNA" "blood" "" "0000419143" "00417848" "1" "00000" "03840" "2022-09-26 14:30:35" "" "" "SEQ" "DNA" "blood" "" "0000419144" "00417849" "1" "00000" "03840" "2022-09-26 14:58:39" "" "" "SEQ" "DNA" "blood" "" "0000419145" "00417850" "1" "00000" "03840" "2022-09-26 15:07:47" "" "" "?" "DNA" "dermal fibroblasts" "" "0000419147" "00417852" "1" "00000" "03840" "2022-09-26 15:39:05" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000419148" "00417853" "1" "00000" "03840" "2022-09-26 17:07:30" "" "" "SEQ" "DNA" "" "clinical exome" "0000419149" "00417854" "1" "00000" "03840" "2022-09-26 17:28:40" "" "" "?" "DNA" "" "Bardet-Biedl syndrome 22-gene sequencing panel" "0000419150" "00417855" "1" "00000" "03840" "2022-09-26 17:28:40" "" "" "?" "DNA" "" "Bardet-Biedl syndrome 22-gene sequencing panel" "0000419661" "00418366" "1" "00000" "03840" "2022-09-28 22:22:33" "" "" "arraySNP;SEQ-NG;SEQ" "DNA" "blood" "whole exome capture sequencing" "0000421648" "00420339" "1" "00000" "03840" "2022-11-01 11:33:46" "" "" "SEQ-NG;SEQ" "DNA;RNA" "induced pluripotent stem cells" "iPSCs generated from skin fibroblasts - induced pluripotent stem cell-derived retinal sheets" "0000421649" "00420340" "1" "00000" "03840" "2022-11-01 11:33:46" "" "" "SEQ-NG;SEQ" "DNA;RNA" "induced pluripotent stem cells" "iPSCs generated from skin fibroblasts - induced pluripotent stem cell-derived retinal sheets" "0000421650" "00420341" "1" "00000" "03840" "2022-11-01 11:33:46" "" "" "SEQ-NG;SEQ" "DNA;RNA" "induced pluripotent stem cells" "iPSCs generated from skin fibroblasts - induced pluripotent stem cell-derived retinal sheets" "0000422147" "00420836" "1" "00000" "03840" "2022-11-02 19:01:45" "" "" "SEQ-NG" "DNA" "" "targeted exome sequencing" "0000448602" "00447025" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS" "0000449016" "00447439" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000449094" "00447517" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000449109" "00447532" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000463937" "00462305" "1" "00006" "00006" "2025-02-09 09:45:32" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 334 "{{screeningid}}" "{{geneid}}" "0000024239" "BBS10" "0000034099" "BBS10" "0000034099" "CENPF" "0000034102" "BBS10" "0000034102" "CENPF" "0000063400" "BBS10" "0000309621" "BBS10" "0000309622" "BBS10" "0000309783" "BBS10" "0000310102" "BBS10" "0000326645" "BBS10" "0000329263" "BBS10" "0000335036" "BBS10" "0000335308" "BBS10" "0000335309" "BBS10" "0000360043" "BBS1" "0000360043" "BBS10" "0000360046" "BBS10" "0000360046" "BBS5" "0000360048" "BBS10" "0000360048" "NPHP1" "0000360048" "TTC8" "0000364653" "BBS10" "0000364656" "BBS10" "0000364659" "BBS10" "0000364664" "BBS10" "0000364939" "BBS10" "0000364976" "BBS10" "0000375110" "BBS10" "0000375111" "BBS10" "0000375184" "BBS10" "0000380569" "ARL6" "0000380569" "BBS1" "0000380569" "BBS10" "0000380569" "BBS12" "0000380569" "BBS2" "0000380569" "BBS4" "0000380569" "BBS5" "0000380569" "BBS7" "0000380569" "BBS9" "0000380569" "MKKS" "0000380569" "TRIM32" "0000380569" "TTC8" "0000381013" "BBS10" "0000381569" "AHI1" "0000383429" "BBS10" "0000383430" "BBS10" "0000383564" "PROM1" "0000383700" "BBS10" "0000383816" "RPGRIP1" "0000384298" "BBS1" "0000384305" "MKKS" "0000384349" "BBS10" "0000384350" "BBS10" "0000384351" "BBS10" "0000384352" "BBS10" "0000384355" "BBS10" "0000384358" "BBS10" "0000384363" "BBS10" "0000384379" "BBS10" "0000384410" "BBS1" "0000384410" "BBS10" "0000384412" "BBS1" "0000384412" "BBS10" "0000384413" "BBS10" "0000384417" "BBS10" "0000384424" "CEP290" "0000384424" "MKS1" "0000384424" "TMEM67" "0000384425" "BBS10" "0000384425" "CEP290" "0000384425" "MKS1" "0000384425" "TMEM67" "0000384471" "BBS10" "0000384473" "BBS10" "0000384474" "BBS10" "0000384475" "BBS10" "0000384476" "BBS10" "0000384477" "BBS10" "0000384478" "BBS10" "0000384479" "BBS10" "0000384480" "BBS10" "0000384481" "BBS10" "0000384482" "BBS10" "0000384483" "BBS10" "0000384484" "BBS10" "0000384485" "BBS10" "0000384486" "BBS10" "0000384487" "BBS10" "0000384488" "BBS10" "0000384489" "BBS10" "0000384490" "BBS10" "0000384491" "BBS10" "0000384492" "BBS10" "0000384493" "BBS10" "0000384494" "BBS10" "0000384508" "BBS10" "0000384509" "MKKS" "0000384512" "BBS10" "0000384514" "BBS10" "0000384515" "BBS10" "0000384519" "MKKS" "0000384521" "BBS2" "0000384540" "BBS10" "0000384541" "BBS10" "0000384878" "BBS10" "0000384881" "BBS10" "0000384883" "BBS10" "0000384884" "BBS10" "0000384886" "BBS1" "0000385867" "BBS10" "0000385868" "BBS10" "0000385869" "BBS10" "0000385870" "BBS10" "0000385871" "BBS10" "0000385911" "BBS10" "0000385912" "BBS10" "0000385913" "BBS10" "0000385914" "BBS10" "0000385915" "BBS10" "0000385916" "BBS10" "0000385917" "BBS10" "0000385918" "BBS10" "0000385919" "BBS10" "0000385920" "BBS10" "0000385921" "BBS10" "0000385922" "BBS10" "0000385923" "BBS10" "0000385924" "BBS10" "0000385925" "BBS10" "0000385926" "BBS10" "0000385934" "BBS10" "0000385935" "BBS10" "0000385936" "BBS10" "0000385937" "BBS10" "0000385938" "BBS10" "0000385939" "BBS10" "0000385940" "BBS10" "0000385941" "BBS10" "0000385943" "BBS10" "0000385947" "BBS10" "0000385948" "BBS10" "0000385949" "BBS10" "0000385950" "BBS10" "0000385951" "BBS10" "0000385961" "BBS1" "0000385962" "BBS1" "0000386018" "ARL6" "0000386034" "BBS10" "0000386054" "BBS10" "0000386061" "BBS10" "0000386062" "BBS10" "0000386063" "BBS10" "0000386329" "PDE6B" "0000386330" "PDE6B" "0000386410" "BBS10" "0000386411" "BBS10" "0000386412" "BBS2" "0000386431" "BBS10" "0000386432" "BBS10" "0000386433" "BBS10" "0000386434" "BBS10" "0000386435" "BBS10" "0000386436" "BBS10" "0000386437" "BBS10" "0000386438" "BBS10" "0000386439" "BBS10" "0000386440" "BBS10" "0000386441" "BBS10" "0000386462" "BBS10" "0000386472" "BBS10" "0000386473" "BBS10" "0000386474" "BBS10" "0000386485" "BBS10" "0000386487" "BBS10" "0000386489" "BBS10" "0000386490" "BBS10" "0000386516" "BBS10" "0000386537" "BBS10" "0000386538" "BBS10" "0000386539" "BBS10" "0000386540" "BBS10" "0000386541" "BBS10" "0000386552" "BBS10" "0000386553" "BBS10" "0000386585" "BBS10" "0000386586" "BBS5" "0000386587" "BBS10" "0000386588" "BBS10" "0000386589" "BBS10" "0000386590" "MKKS" "0000386591" "BBS1" "0000386592" "BBS10" "0000386593" "BBS10" "0000386594" "BBS12" "0000386595" "BBS10" "0000386596" "BBS10" "0000386597" "BBS10" "0000386598" "BBS10" "0000386599" "MKKS" "0000386600" "BBS10" "0000386601" "BBS10" "0000386602" "BBS10" "0000386604" "BBS4" "0000386618" "BBS12" "0000386619" "BBS12" "0000386789" "BBS10" "0000386795" "BBS10" "0000386796" "BBS10" "0000386797" "BBS10" "0000386799" "BBS10" "0000386800" "BBS10" "0000386805" "BBS10" "0000386806" "BBS10" "0000386813" "BBS10" "0000386814" "BBS10" "0000386815" "BBS10" "0000386816" "BBS10" "0000386832" "BBS10" "0000386854" "USH2A" "0000386856" "GUCY2D" "0000386857" "BBS10" "0000386865" "BBS10" "0000386866" "BBS10" "0000386870" "BBS10" "0000386871" "BBS10" "0000387203" "BBS10" "0000387204" "BBS10" "0000387205" "BBS10" "0000387206" "BBS10" "0000387207" "BBS10" "0000388703" "BBS1" "0000388703" "BBS10" "0000388703" "BBS12" "0000388704" "BBS1" "0000388704" "BBS10" "0000388704" "BBS12" "0000388705" "BBS1" "0000388705" "BBS10" "0000388705" "BBS12" "0000388706" "BBS1" "0000388706" "BBS10" "0000388706" "BBS12" "0000388707" "BBS1" "0000388707" "BBS10" "0000388707" "BBS12" "0000388708" "BBS1" "0000388708" "BBS10" "0000388708" "BBS12" "0000388709" "BBS1" "0000388709" "BBS10" "0000388709" "BBS12" "0000388710" "BBS1" "0000388710" "BBS10" "0000388710" "BBS12" "0000388711" "BBS1" "0000388711" "BBS10" "0000388711" "BBS12" "0000388772" "BBS10" "0000388773" "BBS10" "0000388806" "BBS10" "0000388807" "BBS10" "0000388810" "BBS10" "0000388811" "BBS10" "0000388812" "BBS10" "0000388813" "BBS10" "0000389265" "BBS10" "0000389285" "BBS10" "0000389286" "BBS10" "0000389287" "BBS10" "0000389288" "BBS10" "0000389541" "BBS10" "0000389542" "BBS10" "0000389555" "BBS10" "0000389556" "BBS10" "0000389774" "BBS10" "0000389775" "BBS10" "0000389982" "BBS10" "0000389988" "BBS10" "0000389989" "BBS10" "0000390054" "BBS10" "0000390058" "BBS10" "0000390060" "BBS10" "0000390067" "BBS10" "0000390088" "BBS10" "0000390246" "BBS10" "0000391414" "BBS10" "0000392071" "BBS10" "0000392072" "BBS10" "0000392459" "BBS10" "0000394730" "BBS10" "0000395716" "BBS10" "0000395720" "BBS10" "0000395725" "BBS2" "0000396277" "BBS10" "0000396281" "BBS10" "0000396287" "BBS10" "0000397838" "BBS10" "0000397840" "BBS10" "0000397842" "BBS10" "0000397844" "BBS10" "0000397846" "BBS10" "0000397848" "BBS10" "0000397850" "BBS10" "0000397852" "BBS10" "0000397854" "BBS10" "0000405509" "BBS10" "0000413754" "BBS1" "0000413755" "BBS1" "0000418805" "BBS10" "0000418806" "BBS10" "0000419130" "BBS10" "0000419131" "BBS10" "0000419132" "BBS10" "0000419133" "BBS10" "0000419134" "BBS10" "0000419135" "BBS10" "0000419136" "BBS10" "0000419137" "BBS10" "0000419138" "BBS10" "0000419140" "BBS10" "0000419141" "BBS10" "0000419142" "BBS10" "0000419143" "BBS10" "0000419144" "BBS10" "0000419145" "BBS10" "0000419147" "BBS10" "0000419148" "BBS10" "0000419149" "BBS10" "0000419661" "BBS4" "0000421648" "BBS10" "0000421649" "BBS10" "0000421650" "TMEM67" "0000422147" "BBS10" ## 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 = 517 "{{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}}" "0000046800" "3" "90" "12" "76740576" "76740576" "subst" "4.87666E-5" "00705" "BBS10_000070" "g.76740576T>C" "3/1791 cases" "{PMID:Lim 2014:25439097}, {DOI:Lim 2014:10.1016/j.ajhg.2014.09.015}" "" "" "no homozygotes in control subjects; variant tested in zebrafish model confirmed deleterious effect" "Germline" "yes" "rs202042386" "0" "" "" "g.76346796T>C" "" "pathogenic" "" "0000061100" "1" "90" "12" "76740855" "76740858" "del" "0" "00006" "BBS10_000012" "g.76740855_76740858del" "" "{PMID:Waters 2015:25564561), {DOI:Waters 2015:10.1136/jmedgenet-2014-102691}" "" "S303fsX305" "" "Germline" "yes" "" "0" "" "" "g.76347075_76347078del" "" "pathogenic" "" "0000061101" "2" "90" "12" "76739735" "76739735" "subst" "0" "00006" "BBS10_000033" "g.76739735C>A" "" "{PMID:Waters 2015:25564561), {DOI:Waters 2015:10.1136/jmedgenet-2014-102691}" "" "G677V" "" "Germline" "yes" "" "0" "" "" "g.76345955C>A" "" "pathogenic" "" "0000061110" "1" "90" "12" "76740944" "76740951" "dup" "0" "00006" "BBS10_000036" "g.76740944_76740951dup" "" "{PMID:Waters 2015:25564561), {DOI:Waters 2015:10.1136/jmedgenet-2014-102691}" "" "F275fsX281" "" "Germline" "yes" "" "0" "" "" "g.76347164_76347171dup" "" "pathogenic" "" "0000094352" "1" "70" "12" "76741341" "76741341" "subst" "0.00733554" "01581" "BBS10_000071" "g.76741341C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.76347561C>T" "" "likely pathogenic" "" "0000154074" "3" "90" "12" "76741496" "76741496" "dup" "0" "01586" "BBS10_000002" "g.76741496dup" "" "" "" "" "founder mutation" "Germline" "yes" "rs549625604" "0" "" "" "g.76347716dup" "" "pathogenic" "" "0000247119" "0" "10" "12" "76741393" "76741393" "subst" "0.000146726" "02330" "BBS10_000093" "g.76741393A>T" "" "" "" "BBS10(NM_024685.4):c.372T>A (p.S124=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.76347613A>T" "" "benign" "" "0000250824" "0" "90" "12" "76741975" "76741975" "subst" "0" "02326" "BBS10_000096" "g.76741975A>G" "" "" "" "BBS10(NM_024685.4):c.164T>C (p.L55P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.76348195A>G" "" "pathogenic" "" "0000255346" "0" "70" "12" "76741975" "76741975" "subst" "0" "01943" "BBS10_000096" "g.76741975A>G" "" "" "" "BBS10(NM_024685.4):c.164T>C (p.L55P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.76348195A>G" "" "likely pathogenic" "" "0000258589" "0" "10" "12" "76740328" "76740328" "subst" "1.21913E-5" "02330" "BBS10_000079" "g.76740328T>C" "" "" "" "BBS10(NM_024685.4):c.1437A>G (p.A479=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.76346548T>C" "" "benign" "" "0000258592" "0" "10" "12" "76741303" "76741303" "subst" "1.63726E-5" "02330" "BBS10_000088" "g.76741303C>T" "" "" "" "BBS10(NM_024685.4):c.462G>A (p.L154=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.76347523C>T" "" "benign" "" "0000258593" "0" "10" "12" "76741000" "76741000" "subst" "0.000606453" "02330" "BBS10_000087" "g.76741000C>T" "" "" "" "BBS10(NM_024685.4):c.765G>A (p.M255I, p.(Met255Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.76347220C>T" "" "benign" "" "0000259227" "0" "10" "12" "76740149" "76740149" "subst" "0.0639454" "02325" "BBS10_000078" "g.76740149G>A" "" "" "" "BBS10(NM_024685.4):c.1616C>T (p.P539L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.76346369G>A" "" "benign" "" "0000261389" "0" "10" "12" "76740096" "76740096" "subst" "0.000341772" "02326" "BBS10_000077" "g.76740096T>C" "" "" "" "BBS10(NM_024685.4):c.1669A>G (p.I557V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.76346316T>C" "" "benign" "" "0000261390" "0" "10" "12" "76740088" "76740088" "subst" "1.62835E-5" "02326" "BBS10_000076" "g.76740088G>A" "" "" "" "BBS10(NM_024685.4):c.1677C>T (p.Y559=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.76346308G>A" "" "benign" "" "0000261391" "0" "90" "12" "76739927" "76739927" "subst" "2.47498E-5" "02326" "BBS10_000073" "g.76739927T>C" "" "" "" "BBS10(NM_024685.4):c.1838A>G (p.(Tyr613Cys), p.Y613C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.76346147T>C" "" "pathogenic" "" "0000261392" "0" "30" "12" "76741570" "76741570" "subst" "5.25675E-5" "02326" "BBS10_000095" "g.76741570G>A" "" "" "" "BBS10(NM_024685.4):c.198-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.76347790G>A" "" "likely benign" "" "0000261394" "0" "10" "12" "76741341" "76741341" "subst" "0.00733554" "02326" "BBS10_000071" "g.76741341C>T" "" "" "" "BBS10(NM_024685.4):c.424G>A (p.D142N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.76347561C>T" "" "benign" "" "0000261395" "0" "30" "12" "76741000" "76741000" "subst" "0.000606453" "02326" "BBS10_000087" "g.76741000C>T" "" "" "" "BBS10(NM_024685.4):c.765G>A (p.M255I, p.(Met255Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.76347220C>T" "" "likely benign" "" "0000261396" "0" "90" "12" "76740999" "76740999" "subst" "0" "02326" "BBS10_000086" "g.76740999G>A" "" "" "" "BBS10(NM_024685.4):c.766C>T (p.R256*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.76347219G>A" "" "pathogenic" "" "0000261397" "0" "30" "12" "76740879" "76740879" "subst" "0.000367257" "02326" "BBS10_000085" "g.76740879C>T" "" "" "" "BBS10(NM_024685.4):c.886G>A (p.A296T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.76347099C>T" "" "likely benign" "" "0000263555" "0" "30" "12" "76740607" "76740607" "subst" "0.000918811" "01943" "BBS10_000082" "g.76740607C>T" "" "" "" "BBS10(NM_024685.4):c.1158G>A (p.L386=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.76346827C>T" "" "likely benign" "" "0000263556" "0" "50" "12" "76740362" "76740362" "subst" "4.06273E-6" "01943" "BBS10_000080" "g.76740362G>A" "" "" "" "BBS10(NM_024685.4):c.1403C>T (p.P468L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.76346582G>A" "" "VUS" "" "0000263557" "0" "90" "12" "76741994" "76741994" "subst" "4.90533E-5" "01943" "BBS10_000097" "g.76741994G>A" "" "" "" "BBS10(NM_024685.4):c.145C>T (p.R49W, p.(Arg49Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.76348214G>A" "" "pathogenic" "" "0000263558" "0" "50" "12" "76740029" "76740029" "subst" "0.000343283" "01943" "BBS10_000075" "g.76740029T>C" "" "" "" "BBS10(NM_024685.4):c.1736A>G (p.K579R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.76346249T>C" "" "VUS" "" "0000263560" "0" "30" "12" "76741000" "76741000" "subst" "0.000606453" "01943" "BBS10_000087" "g.76741000C>T" "" "" "" "BBS10(NM_024685.4):c.765G>A (p.M255I, p.(Met255Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.76347220C>T" "" "likely benign" "" "0000263561" "0" "90" "12" "76740810" "76740813" "del" "0" "01943" "BBS10_000084" "g.76740810_76740813del" "" "" "" "BBS10(NM_024685.4):c.959_962delGTTA (p.S320Ifs*5)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.76347030_76347033del" "" "pathogenic" "" "0000322994" "0" "30" "12" "76739943" "76739943" "subst" "0" "01804" "BBS10_000074" "g.76739943T>C" "" "" "" "BBS10(NM_024685.3):c.1822A>G (p.(Ile608Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.76346163T>C" "" "likely benign" "" "0000322995" "0" "30" "12" "76740500" "76740500" "subst" "0.000386151" "01804" "BBS10_000081" "g.76740500C>T" "" "" "" "BBS10(NM_024685.3):c.1265G>A (p.(Arg422Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.76346720C>T" "" "likely benign" "" "0000343912" "0" "10" "12" "76741341" "76741341" "subst" "0.00733554" "02327" "BBS10_000071" "g.76741341C>T" "" "" "" "BBS10(NM_024685.4):c.424G>A (p.D142N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.76347561C>T" "" "benign" "" "0000344472" "0" "90" "12" "76741496" "76741496" "dup" "0" "02327" "BBS10_000092" "g.76741496dup" "" "" "" "BBS10(NM_024685.4):c.271dup (p.(Cys91LeufsTer5)), BBS10(NM_024685.4):c.271dupT (p.C91Lfs*5)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.76347716dup" "" "pathogenic" "" "0000348498" "0" "10" "12" "76740149" "76740149" "subst" "0.0639454" "02327" "BBS10_000078" "g.76740149G>A" "" "" "" "BBS10(NM_024685.4):c.1616C>T (p.P539L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.76346369G>A" "" "benign" "" "0000348928" "0" "90" "12" "76740834" "76740834" "subst" "0" "02327" "BBS10_000091" "g.76740834A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.76347054A>C" "" "pathogenic" "" "0000350138" "0" "90" "12" "76740088" "76740088" "subst" "4.07087E-5" "02327" "BBS10_000090" "g.76740088G>T" "" "" "" "BBS10(NM_024685.4):c.1677C>A (p.Y559*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.76346308G>T" "" "pathogenic" "" "0000350151" "0" "90" "12" "76739927" "76739927" "subst" "2.47498E-5" "02327" "BBS10_000073" "g.76739927T>C" "" "" "" "BBS10(NM_024685.4):c.1838A>G (p.(Tyr613Cys), p.Y613C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.76346147T>C" "" "pathogenic" "" "0000472272" "3" "50" "12" "76739963" "76739963" "subst" "0" "01807" "BBS10_000098" "g.76739963G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.76346183G>A" "" "VUS" "" "0000549145" "0" "70" "12" "76739646" "76739647" "del" "0" "02330" "BBS10_000099" "g.76739646_76739647del" "" "" "" "BBS10(NM_024685.4):c.2119_2120delGT (p.V707*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.76345866_76345867del" "" "likely pathogenic" "" "0000549147" "0" "90" "12" "76740088" "76740088" "subst" "4.07087E-5" "02325" "BBS10_000090" "g.76740088G>T" "" "" "" "BBS10(NM_024685.4):c.1677C>A (p.Y559*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.76346308G>T" "" "pathogenic" "" "0000549148" "0" "30" "12" "76740096" "76740096" "subst" "0.000341772" "02330" "BBS10_000077" "g.76740096T>C" "" "" "" "BBS10(NM_024685.4):c.1669A>G (p.I557V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.76346316T>C" "" "likely benign" "" "0000549149" "0" "50" "12" "76740134" "76740134" "subst" "0.00762965" "01943" "BBS10_000101" "g.76740134T>C" "" "" "" "BBS10(NM_024685.3):c.1631A>G (p.(Asn544Ser)), BBS10(NM_024685.4):c.1631A>G (p.N544S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.76346354T>C" "" "VUS" "" "0000549150" "0" "30" "12" "76740134" "76740134" "subst" "0.00762965" "01804" "BBS10_000101" "g.76740134T>C" "" "" "" "BBS10(NM_024685.3):c.1631A>G (p.(Asn544Ser)), BBS10(NM_024685.4):c.1631A>G (p.N544S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.76346354T>C" "" "likely benign" "" "0000549151" "0" "10" "12" "76740134" "76740134" "subst" "0.00762965" "02326" "BBS10_000101" "g.76740134T>C" "" "" "" "BBS10(NM_024685.3):c.1631A>G (p.(Asn544Ser)), BBS10(NM_024685.4):c.1631A>G (p.N544S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.76346354T>C" "" "benign" "" "0000549153" "0" "10" "12" "76740149" "76740149" "subst" "0.0639454" "02326" "BBS10_000078" "g.76740149G>A" "" "" "" "BBS10(NM_024685.4):c.1616C>T (p.P539L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.76346369G>A" "" "benign" "" "0000549154" "0" "10" "12" "76740217" "76740217" "subst" "2.84375E-5" "02330" "BBS10_000102" "g.76740217T>A" "" "" "" "BBS10(NM_024685.4):c.1548A>T (p.T516=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.76346437T>A" "" "benign" "" "0000549156" "0" "50" "12" "76740582" "76740582" "subst" "0" "02327" "BBS10_000104" "g.76740582G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.76346802G>C" "" "VUS" "" "0000549157" "0" "10" "12" "76740808" "76740808" "subst" "8.97864E-5" "02330" "BBS10_000105" "g.76740808A>G" "" "" "" "BBS10(NM_024685.4):c.957T>C (p.V319=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.76347028A>G" "" "benign" "" "0000549158" "0" "50" "12" "76740810" "76740810" "subst" "0" "02330" "BBS10_000106" "g.76740810C>G" "" "" "" "BBS10(NM_024685.4):c.955G>C (p.V319L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.76347030C>G" "" "VUS" "" "0000549160" "0" "50" "12" "76741000" "76741000" "subst" "0.000606453" "01804" "BBS10_000087" "g.76741000C>T" "" "" "" "BBS10(NM_024685.4):c.765G>A (p.M255I, p.(Met255Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.76347220C>T" "" "VUS" "" "0000549162" "0" "90" "12" "76741281" "76741282" "del" "0" "01943" "BBS10_000108" "g.76741281_76741282del" "" "" "" "BBS10(NM_024685.4):c.488_489delGA (p.R163Nfs*4)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.76347501_76347502del" "" "pathogenic" "" "0000549164" "0" "90" "12" "76741496" "76741496" "dup" "0" "02330" "BBS10_000092" "g.76741496dup" "" "" "" "BBS10(NM_024685.4):c.271dup (p.(Cys91LeufsTer5)), BBS10(NM_024685.4):c.271dupT (p.C91Lfs*5)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.76347716dup" "" "pathogenic" "" "0000549165" "0" "90" "12" "76741496" "76741496" "dup" "0" "01943" "BBS10_000092" "g.76741496dup" "" "" "" "BBS10(NM_024685.4):c.271dup (p.(Cys91LeufsTer5)), BBS10(NM_024685.4):c.271dupT (p.C91Lfs*5)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.76347716dup" "" "pathogenic" "" "0000549166" "0" "90" "12" "76741496" "76741496" "dup" "0" "02326" "BBS10_000092" "g.76741496dup" "" "" "" "BBS10(NM_024685.4):c.271dup (p.(Cys91LeufsTer5)), BBS10(NM_024685.4):c.271dupT (p.C91Lfs*5)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.76347716dup" "" "pathogenic" "" "0000549167" "0" "90" "12" "76741496" "76741496" "dup" "0" "02329" "BBS10_000092" "g.76741496dup" "" "" "" "BBS10(NM_024685.4):c.271dup (p.(Cys91LeufsTer5)), BBS10(NM_024685.4):c.271dupT (p.C91Lfs*5)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.76347716dup" "" "pathogenic" "" "0000549168" "0" "50" "12" "76742015" "76742015" "subst" "4.07957E-6" "02330" "BBS10_000109" "g.76742015T>A" "" "" "" "BBS10(NM_024685.4):c.124A>T (p.T42S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.76348235T>A" "" "VUS" "" "0000614381" "0" "90" "12" "76741975" "76741975" "subst" "0" "02330" "BBS10_000096" "g.76741975A>G" "" "" "" "BBS10(NM_024685.4):c.164T>C (p.L55P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.76348195A>G" "" "pathogenic" "" "0000622973" "0" "10" "12" "76740799" "76740799" "subst" "0.00124128" "02330" "BBS10_000083" "g.76740799A>G" "" "" "" "BBS10(NM_024685.4):c.966T>C (p.Y322=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.76347019A>G" "" "benign" "" "0000648653" "1" "30" "12" "76741341" "76741341" "subst" "0.00733554" "03575" "BBS10_000071" "g.76741341C>T" "6/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "6 heterozygous, no homozygous; {DB:CLININrs142863601}" "Germline" "" "rs142863601" "0" "" "" "g.76347561C>T" "" "likely benign" "" "0000653301" "1" "90" "12" "76741493" "76741493" "dup" "0" "03575" "BBS10_000110" "g.76741493dup" "3/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 heterozygous, no homozygous; {DB:CLININrs549625604}\r\nVariant Error [EBUILDMISMATCH]: This variant seems to mismatch; the genomic variants on hg19 and hg38 seem to not belong together. Please fix this entry and then remove this message." "Germline" "" "rs549625604" "0" "" "" "g.76347714dup" "" "pathogenic" "" "0000657198" "0" "90" "12" "76740358" "76740358" "subst" "0" "02329" "BBS10_000111" "g.76740358A>C" "" "" "" "BBS10(NM_024685.4):c.1407T>G (p.Y469*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.76346578A>C" "" "pathogenic" "" "0000657199" "0" "30" "12" "76740432" "76740432" "subst" "0.000158473" "01943" "BBS10_000112" "g.76740432G>T" "" "" "" "BBS10(NM_024685.4):c.1333C>A (p.L445I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.76346652G>T" "" "likely benign" "" "0000657200" "0" "30" "12" "76741260" "76741260" "subst" "0" "01943" "BBS10_000107" "g.76741260A>G" "" "" "" "BBS10(NM_024685.4):c.505T>C (p.S169P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.76347480A>G" "" "likely benign" "" "0000657201" "0" "70" "12" "76741492" "76741492" "subst" "3.28688E-5" "02327" "BBS10_000113" "g.76741492G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.76347712G>C" "" "likely pathogenic" "" "0000684494" "1" "70" "12" "76741494" "76741494" "dup" "0" "00004" "BBS10_000002" "g.76741494dup" "1/899 cases" "{PMID:Holtan 2020:31429209}" "" "c.271dupT" "" "Germline" "" "" "0" "" "" "g.76347714dup" "" "likely pathogenic" "" "0000684495" "1" "70" "12" "76740089" "76740089" "del" "0" "00004" "BBS10_000114" "g.76740089del" "1/899 cases" "{PMID:Holtan 2020:31429209}" "" "c.1676delA" "" "Germline" "" "" "0" "" "" "g.76346309del" "" "likely pathogenic" "" "0000684656" "3" "70" "12" "76741494" "76741494" "dup" "0" "00004" "BBS10_000002" "g.76741494dup" "6/899 cases" "{PMID:Holtan 2020:31429209}" "" "c.271dupT" "" "Germline" "" "" "0" "" "" "g.76347714dup" "" "likely pathogenic (recessive)" "" "0000685013" "0" "90" "12" "76740674" "76740674" "del" "6.51949E-5" "00004" "BBS10_000115" "g.76740674del" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000710237" "3" "90" "12" "76742124" "76742130" "delins" "0" "00006" "BBS10_000116" "g.76742124_76742130delinsGC" "1/143 cases" "{PMID:Zenteno 2020:31736247}" "" "" "" "Germline" "" "" "0" "" "" "g.76348344_76348350delinsGC" "" "pathogenic" "" "0000713386" "0" "90" "12" "76741175" "76741175" "subst" "8.13511E-6" "00000" "BBS10_000117" "g.76741175T>C" "" "{PMID:Carss 2017:28041643}" "" "12:76741175T>C ENST00000393262.3:c.590A>G (Tyr197Cys)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000713748" "0" "90" "12" "76741494" "76741495" "ins" "0" "00000" "BBS10_000118" "g.76741494_76741495insA" "" "{PMID:Carss 2017:28041643}" "" "12:76741493C>CA ENST00000393262.3:c.271dupT (Cys91LeufsTer5)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000733045" "1" "70" "12" "76741496" "76741496" "dup" "0" "00000" "BBS10_000002" "g.76741496dup" "" "{PMID:Stone 2017:28559085}" "" "268_269insT" "" "Germline" "" "" "0" "" "" "g.76347716dup" "" "likely pathogenic" "" "0000733317" "1" "70" "12" "76741094" "76741099" "dup" "0" "00000" "BBS10_000120" "g.76741094_76741099dup" "" "{PMID:Stone 2017:28559085}" "" "665_666insTGTTGG" "" "Germline" "" "" "0" "" "" "g.76347314_76347319dup" "" "likely pathogenic" "" "0000733318" "3" "70" "12" "76741496" "76741496" "dup" "0" "00000" "BBS10_000002" "g.76741496dup" "" "{PMID:Stone 2017:28559085}" "" "268_269insT" "" "Germline" "" "" "0" "" "" "g.76347716dup" "" "likely pathogenic" "" "0000733516" "2" "70" "12" "76741496" "76741496" "dup" "0" "00000" "BBS10_000002" "g.76741496dup" "" "{PMID:Stone 2017:28559085}" "" "268_269insT" "" "Germline" "" "" "0" "" "" "g.76347716dup" "" "likely pathogenic" "" "0000733706" "2" "70" "12" "76739642" "76739643" "del" "0" "00000" "BBS10_000119" "g.76739642_76739643del" "" "{PMID:Stone 2017:28559085}" "" "2122_2123delAA" "" "Germline" "" "" "0" "" "" "g.76345862_76345863del" "" "likely pathogenic" "" "0000759696" "11" "90" "12" "76739646" "76739647" "del" "0" "00000" "BBS10_000099" "g.76739646_76739647del" "" "{PMID:Lindstrand 2016:27486776}" "" "c.2119_2120delGT" "" "Germline" "" "" "0" "" "" "g.76345866_76345867del" "" "pathogenic" "" "0000759714" "0" "90" "12" "76739646" "76739647" "del" "0" "00000" "BBS10_000099" "g.76739646_76739647del" "" "{PMID:Lindstrand 2016:27486776}" "" "c.2119_2120delGT" "" "Germline" "" "" "0" "" "" "g.76345866_76345867del" "" "pathogenic" "" "0000759721" "21" "90" "12" "76739646" "76739647" "del" "0" "00000" "BBS10_000099" "g.76739646_76739647del" "" "{PMID:Lindstrand 2016:27486776}" "" "c.2118_2119delTG" "" "Germline" "" "" "0" "" "" "g.76345866_76345867del" "" "pathogenic" "" "0000759726" "11" "50" "12" "76741994" "76741994" "subst" "4.90533E-5" "00000" "BBS10_000097" "g.76741994G>A" "" "{PMID:Lindstrand 2016:27486776}" "" "" "" "Germline" "" "" "0" "" "" "g.76348214G>A" "" "VUS" "" "0000760030" "0" "50" "12" "76740134" "76740134" "subst" "0.00762965" "00000" "BBS10_000101" "g.76740134T>C" "" "{PMID:Tiwari 2016:27353947}" "" "" "" "Germline" "" "" "0" "" "" "g.76346354T>C" "" "VUS" "" "0000760056" "0" "50" "12" "76740134" "76740134" "subst" "0.00762965" "00000" "BBS10_000101" "g.76740134T>C" "" "{PMID:Tiwari 2016:27353947}" "" "" "" "Germline" "" "" "0" "" "" "g.76346354T>C" "" "VUS" "" "0000760159" "3" "70" "12" "76741496" "76741496" "dup" "0" "00000" "BBS10_000002" "g.76741496dup" "" "{PMID:Ellingford 2016:27208204}" "" "271dupT" "" "Germline" "" "" "0" "" "" "g.76347716dup" "" "likely pathogenic" "" "0000760668" "1" "90" "12" "76740521" "76740521" "del" "2.84472E-5" "00000" "BBS10_000121" "g.76740521del" "" "{PMID:Bravo-Gil 2016:27032803}" "" "1244delA" "" "Germline" "" "" "0" "" "" "g.76346741del" "" "pathogenic" "" "0000760685" "2" "90" "12" "76741492" "76741492" "subst" "3.28688E-5" "00000" "BBS10_000113" "g.76741492G>C" "" "{PMID:Bravo-Gil 2016:27032803}" "" "" "" "Germline" "" "" "0" "" "" "g.76347712G>C" "" "pathogenic" "" "0000765528" "3" "90" "12" "76740834" "76740834" "subst" "0" "00000" "BBS10_000091" "g.76740834A>C" "" "{PMID:Ece Solmaz 2015:26518167}" "" "" "" "Germline" "" "rs137852837" "0" "" "" "g.76347054A>C" "" "pathogenic (recessive)" "" "0000765531" "3" "90" "12" "76739906" "76739915" "del" "0" "00000" "BBS10_000123" "g.76739906_76739915del" "" "{PMID:Ece Solmaz 2015:26518167}" "" "1856_1865delAAAAATGCCA" "" "Germline" "" "" "0" "" "" "g.76346126_76346135del" "" "pathogenic (recessive)" "" "0000765534" "3" "90" "12" "76740741" "76740741" "dup" "0" "00000" "BBS10_000125" "g.76740741dup" "" "{PMID:Ece Solmaz 2015:26518167}" "" "1024_1025insA" "" "Germline" "" "" "0" "" "" "g.76346961dup" "" "pathogenic (recessive)" "" "0000765539" "3" "90" "12" "76740218" "76740218" "del" "0" "00000" "BBS10_000124" "g.76740218del" "" "{PMID:Ece Solmaz 2015:26518167}" "" "1547delC" "" "Germline" "" "" "0" "" "" "g.76346438del" "" "pathogenic (recessive)" "" "0000765881" "1" "70" "12" "76739871" "76739875" "del" "0" "00000" "BBS10_000122" "g.76739871_76739875del" "" "{PMID:Patel 2016:26355662}" "" "" "" "Germline" "" "" "0" "" "" "g.76346091_76346095del" "" "likely pathogenic" "" "0000765918" "0" "70" "12" "76739871" "76739875" "del" "0" "00000" "BBS10_000122" "g.76739871_76739875del" "" "{PMID:Patel 2016:26355662}" "" "" "" "Germline" "" "" "0" "" "" "g.76346091_76346095del" "" "likely pathogenic" "" "0000765929" "2" "70" "12" "76741037" "76741040" "del" "0" "00000" "BBS10_000126" "g.76741037_76741040del" "" "{PMID:Patel 2016:26355662}" "" "" "" "Germline" "" "" "0" "" "" "g.76347257_76347260del" "" "likely pathogenic" "" "0000786405" "3" "90" "12" "76740270" "76740270" "subst" "4.06421E-6" "00000" "BBS10_000128" "g.76740270C>A" "" "{PMID:Consugar 2015:25412400}" "" "" "" "Germline" "yes" "" "0" "" "" "g.76346490C>A" "" "pathogenic (recessive)" "" "0000786406" "3" "90" "12" "76740270" "76740270" "subst" "4.06421E-6" "00000" "BBS10_000128" "g.76740270C>A" "" "{PMID:Consugar 2015:25412400}" "" "" "" "Germline" "yes" "" "0" "" "" "g.76346490C>A" "" "pathogenic (recessive)" "" "0000786513" "1" "70" "12" "76740675" "76740675" "del" "0" "00000" "BBS10_000115" "g.76740675del" "" "{PMID:Pierrottet 2014:25366773}" "" "" "" "Germline" "" "" "0" "" "" "g.76346895del" "" "likely pathogenic" "" "0000786514" "2" "70" "12" "76740088" "76740088" "del" "4.0707E-6" "00000" "BBS10_000127" "g.76740088del" "" "{PMID:Pierrottet 2014:25366773}" "" "" "" "Germline" "" "" "0" "" "" "g.76346308del" "" "likely pathogenic" "" "0000793712" "3" "90" "12" "76741235" "76741235" "subst" "0" "00000" "BBS10_000131" "g.76741235T>C" "0/90 ethnically matched controls" "{PMID:Harville-2010:19797195}" "" "530A/G (Y177C)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000793919" "0" "70" "12" "76740374" "76740374" "subst" "1.21877E-5" "03508" "BBS10_000130" "g.76740374G>C" "" "" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "pathogenic" "ACMG" "0000793920" "0" "70" "12" "76741536" "76741536" "dup" "0" "03508" "BBS10_000129" "g.76741536dup" "" "" "" "235dupA" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.76347756dup" "" "pathogenic" "ACMG" "0000794283" "11" "90" "12" "76740702" "76740702" "subst" "0" "00000" "BBS10_000133" "g.76740702G>A" "" "{PMID:Wang 2018:30029497}" "" "NM_024685.3:c.1063C>T, NP_078961.3:p.(Gln355Ter), NC_000012.11:g.76740702G>A" "" "Germline" "yes" "" "0" "" "" "g.76346922G>A" "" "pathogenic" "ACMG" "0000794284" "21" "90" "12" "76741387" "76741387" "subst" "0" "00000" "BBS10_000134" "g.76741387C>T" "" "{PMID:Wang 2018:30029497}" "" "NM_024685.3:c.378G>A, NP_078961.3:p.(Trp126Ter), NC_000012.11:g.76741387C>T" "" "Germline" "yes" "" "0" "" "" "g.76347607C>T" "" "pathogenic" "ACMG" "0000795036" "3" "90" "12" "76740584" "76740594" "dup" "0" "00000" "BBS10_000132" "g.76740584_76740594dup" "" "{PMID:M\'hamdi 2014:23432027}" "" "c.[1171_1181dupGCATTTATACC]" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000797521" "3" "90" "12" "76741496" "76741496" "dup" "0" "00000" "BBS10_000002" "g.76741496dup" "" "{PMID:Jespersgaar 2019:30718709}" "" "BBS10 c.271dup, p.(Cys91Leufs*5), c.271dup, p.(Cys91Leufs*5)" "homozygous" "Germline" "?" "" "0" "" "" "g.76347716dup" "" "pathogenic" "ACMG" "0000797522" "3" "90" "12" "76741496" "76741496" "dup" "0" "00000" "BBS10_000002" "g.76741496dup" "" "{PMID:Jespersgaar 2019:30718709}" "" "BBS10 c.271dup, p.(Cys91Leufs*5), c.271dup, p.(Cys91Leufs*5)" "homozygous" "Germline" "?" "" "0" "" "" "g.76347716dup" "" "pathogenic" "ACMG" "0000797734" "0" "70" "12" "76741000" "76741000" "subst" "0.000606453" "00000" "BBS10_000087" "g.76741000C>T" "" "{PMID:Jespersgaar 2019:30718709}" "" "PROM1 c.630+2T>A, p.(?), c.2461C>T, p.(Arg821*), BBS10 c.765G>A, p.(Met255Ile)" "" "Germline" "?" "" "0" "" "" "g.76347220C>T" "" "likely pathogenic" "ACMG" "0000797937" "0" "90" "12" "76741496" "76741496" "dup" "0" "00000" "BBS10_000002" "g.76741496dup" "" "{PMID:Jespersgaar 2019:30718709}" "" "BBS10 c.271dup, p.(Cys91Leufs*5)" "single heterozygous variant (recessive)" "Germline" "?" "" "0" "" "" "g.76347716dup" "" "pathogenic" "ACMG" "0000798082" "0" "90" "12" "76741496" "76741496" "dup" "0" "00000" "BBS10_000002" "g.76741496dup" "" "{PMID:Jespersgaar 2019:30718709}" "" "RPGRIP1 c.194G>A, p.(Trp65*), MAKBBS10 c.1367_1368insT, p.(Lys456Asnfs*12), c.271dup, p.(Cys91Leufs*5)" "single heterozygous variant (recessive)" "Germline" "?" "" "0" "" "" "g.76347716dup" "" "pathogenic" "ACMG" "0000805941" "0" "30" "12" "76740879" "76740879" "subst" "0.000367257" "01943" "BBS10_000085" "g.76740879C>T" "" "" "" "BBS10(NM_024685.4):c.886G>A (p.A296T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805942" "0" "50" "12" "76741323" "76741323" "subst" "0" "01943" "BBS10_000135" "g.76741323A>G" "" "" "" "BBS10(NM_024685.4):c.442T>C (p.Y148H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000805943" "0" "90" "12" "76741975" "76741975" "subst" "0" "02329" "BBS10_000096" "g.76741975A>G" "" "" "" "BBS10(NM_024685.4):c.164T>C (p.L55P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000810885" "0" "10" "12" "76740149" "76740149" "subst" "0.0639454" "00000" "BBS10_000078" "g.76740149G>A" "0.04" "{PMID:Anasagasti-2013:24416769}" "" "p.Pro539Leu" "" "Germline" "yes" "rs35676114" "0" "" "" "" "" "benign (recessive)" "" "0000810904" "0" "10" "12" "76738824" "76738824" "subst" "0" "00000" "BBS10_000136" "g.76738824C>G" "0.09" "{PMID:Anasagasti-2013:24416769}" "" "c.*769G>C" "" "Germline" "yes" "rs73383520" "0" "" "" "" "" "benign (recessive)" "" "0000810967" "3" "70" "12" "76740834" "76740834" "subst" "0" "00000" "BBS10_000091" "g.76740834A>C" "0/107 Lebanese controls; 0/96 French controls" "{PMID:Laurier-2006:16823392}" "" "S311A" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000810968" "3" "70" "12" "76740834" "76740834" "subst" "0" "00000" "BBS10_000091" "g.76740834A>C" "0/107 Lebanese controls; 0/96 French controls" "{PMID:Laurier-2006:16823392}" "" "S311A" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000810969" "3" "70" "12" "76740834" "76740834" "subst" "0" "00000" "BBS10_000091" "g.76740834A>C" "0/107 Lebanese controls; 0/96 French controls" "{PMID:Laurier-2006:16823392}" "" "S311A" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000810970" "3" "70" "12" "76740834" "76740834" "subst" "0" "00000" "BBS10_000091" "g.76740834A>C" "0/107 Lebanese controls; 0/96 French controls" "{PMID:Laurier-2006:16823392}" "" "S311A" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000810973" "0" "70" "12" "76742107" "76742107" "subst" "0" "00000" "BBS10_000139" "g.76742107A>C" "0/107 Lebanese controls; 0/96 French controls" "{PMID:Laurier-2006:16823392}" "" "S311A/V11G" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000810974" "0" "70" "12" "76740834" "76740834" "subst" "0" "00000" "BBS10_000091" "g.76740834A>C" "0/107 Lebanese controls; 0/96 French controls" "{PMID:Laurier-2006:16823392}" "" "S311A/V11G" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000810977" "3" "70" "12" "76740563" "76740563" "subst" "0" "00000" "BBS10_000138" "g.76740563C>T" "" "{PMID:Sathya Priya-2015:24400638}" "" "c.1660G>A" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000810982" "3" "70" "12" "76741494" "76741494" "dup" "0" "00000" "BBS10_000002" "g.76741494dup" "" "{PMID:Sathya Priya-2015:24400638}" "" "c.271dupT" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000811000" "3" "70" "12" "76740538" "76740538" "del" "0" "00000" "BBS10_000137" "g.76740538del" "" "{PMID:Sathya Priya-2015:24400638}" "" "c.1227delA" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000811037" "0" "70" "12" "76741492" "76741492" "subst" "3.28688E-5" "00000" "BBS10_000113" "g.76741492G>C" "" "{PMID:Gerth-2008:17980398}" "" "C91W/V707fs708X" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000811038" "0" "70" "12" "0" "0" "" "0" "00000" "ALX1_000001" "g.?" "" "{PMID:Gerth-2008:17980398}" "" "C91W/V707fs708X" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000811041" "0" "70" "12" "0" "0" "" "0" "00000" "ALX1_000001" "g.?" "" "{PMID:Gerth-2008:17980398}" "" "C91fs95X/R103fs110X†" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000811042" "0" "70" "12" "0" "0" "" "0" "00000" "ALX1_000001" "g.?" "" "{PMID:Gerth-2008:17980398}" "" "C91fs95X/R103fs110X†" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000811043" "0" "70" "12" "76741492" "76741492" "subst" "3.28688E-5" "00000" "BBS10_000113" "g.76741492G>C" "" "{PMID:Gerth-2008:17980398}" "" "C91W/A474fs483X" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000811044" "0" "70" "12" "0" "0" "" "0" "00000" "ALX1_000001" "g.?" "" "{PMID:Gerth-2008:17980398}" "" "C91W/A474fs483X" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000811049" "0" "70" "12" "76741492" "76741492" "subst" "3.28688E-5" "00000" "BBS10_000113" "g.76741492G>C" "" "{PMID:Gerth-2008:17980398}" "" "C91W/A474fs483X" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000811050" "0" "70" "12" "0" "0" "" "0" "00000" "ALX1_000001" "g.?" "" "{PMID:Gerth-2008:17980398}" "" "C91W/A474fs483X" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000811064" "3" "70" "12" "0" "0" "" "0" "00000" "ALX1_000001" "g.?" "0/96 ethnically matched controls" "{PMID:Leitch-2008:18327255}" "" "S73fsX91" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000811065" "0" "70" "12" "0" "0" "" "0" "00000" "ALX1_000001" "g.?" "0/96 ethnically matched controls" "{PMID:Leitch-2008:18327255}" "" "Q242fsX258" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000811136" "0" "70" "12" "76739928" "76739928" "subst" "4.53788E-5" "00000" "BBS10_000143" "g.76739928A>G" "" "{PMID:Muller-2010:20177705}" "" "c.1837T>C" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000811139" "1" "70" "12" "76740834" "76740834" "subst" "0" "00000" "BBS10_000091" "g.76740834A>C" "" "{PMID:Muller-2010:20177705}, {PMID:Stoetzel 2006:16582908}" "" "c.931T>G" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000811140" "3" "70" "12" "76740834" "76740834" "subst" "0" "00000" "BBS10_000091" "g.76740834A>C" "" "{PMID:Muller-2010:20177705}, {PMID:Stoetzel 2006:16582908}" "" "c.931T>G/c.931T>G" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000811141" "2" "70" "12" "76741494" "76741494" "dup" "0" "00000" "BBS10_000002" "g.76741494dup" "" "{PMID:Muller-2010:20177705}, {PMID:Stoetzel 2006; 17160889}, {PMID:Stoetzel 2007:16582908}" "" "c.271insT" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000811142" "1" "90" "12" "76742011" "76742011" "subst" "0" "00000" "BBS10_000158" "g.76742011T>C" "" "{PMID:Muller-2010:20177705}" "" "c.128A>G" "A not found at position given, found G instead." "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000811143" "1" "70" "12" "76741994" "76741994" "subst" "4.90533E-5" "00000" "BBS10_000097" "g.76741994G>A" "" "{PMID:Muller-2010:20177705}, {PMID:Stoetzel 2006:16582908}" "" "c.145C>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000811144" "1" "70" "12" "76741994" "76741994" "subst" "4.90533E-5" "00000" "BBS10_000097" "g.76741994G>A" "" "{PMID:Muller-2010:20177705}, {PMID:Stoetzel 2006:16582908}" "" "c.145C>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000811145" "2" "70" "12" "76741994" "76741994" "subst" "4.90533E-5" "00000" "BBS10_000097" "g.76741994G>A" "" "{PMID:Muller-2010:20177705}, {PMID:Stoetzel 2006:16582908}" "" "c.145C>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000811146" "2" "70" "12" "76741994" "76741994" "subst" "4.90533E-5" "00000" "BBS10_000097" "g.76741994G>A" "" "{PMID:Muller-2010:20177705}, {PMID:Stoetzel 2006:16582908}" "" "c.145C>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000811147" "1" "70" "12" "76741994" "76741994" "subst" "4.90533E-5" "00000" "BBS10_000097" "g.76741994G>A" "" "{PMID:Muller-2010:20177705}, {PMID:Stoetzel 2006:16582908}" "" "c.145C>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000811148" "2" "70" "12" "76741494" "76741494" "dup" "0" "00000" "BBS10_000002" "g.76741494dup" "" "{PMID:Muller-2010:20177705}" "" "c.271insT" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000811149" "2" "70" "12" "76740524" "76740524" "subst" "0" "00000" "BBS10_000148" "g.76740524A>G" "" "{PMID:Muller-2010:20177705}, {PMID:Stoetzel 2006:16582908}" "" "c.1241T>C" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000811150" "1" "70" "12" "76741994" "76741994" "subst" "4.90533E-5" "00000" "BBS10_000097" "g.76741994G>A" "" "{PMID:Muller-2010:20177705}, {PMID:Stoetzel 2006:16582908}" "" "c.145C>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000811151" "1" "70" "12" "76741536" "76741546" "del" "0" "00000" "BBS10_000157" "g.76741536_76741546del" "" "{PMID:Muller-2010:20177705}, {PMID:Stoetzel 2006:16582908}" "" "c.219delCAGTCATCTCA" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000811152" "2" "70" "12" "76741536" "76741546" "del" "0" "00000" "BBS10_000157" "g.76741536_76741546del" "" "{PMID:Muller-2010:20177705}, {PMID:Stoetzel 2006:16582908}" "" "c.219delCAGTCATCTCA" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000811153" "0" "70" "12" "76741494" "76741494" "dup" "0" "00000" "BBS10_000002" "g.76741494dup" "" "{PMID:Muller-2010:20177705}, {PMID:Stoetzel 2006:16582908}" "" "c.271insT" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000811154" "3" "70" "12" "76741494" "76741494" "dup" "0" "00000" "BBS10_000002" "g.76741494dup" "" "{PMID:Muller-2010:20177705}, {PMID:Stoetzel 2006:16582908}" "" "c.271insT" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000811155" "3" "70" "12" "76741494" "76741494" "dup" "0" "00000" "BBS10_000002" "g.76741494dup" "" "{PMID:Muller-2010:20177705}, {PMID:Stoetzel 2006:16582908}" "" "c.271insT" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000811156" "1" "70" "12" "76741494" "76741494" "dup" "0" "00000" "BBS10_000002" "g.76741494dup" "" "{PMID:Muller-2010:20177705}, {PMID:Stoetzel 2006:16582908}" "" "c.271insT" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000811157" "2" "70" "12" "76741492" "76741492" "subst" "3.28688E-5" "00000" "BBS10_000113" "g.76741492G>C" "" "{PMID:Muller-2010:20177705}, {PMID:Stoetzel 2006:16582908}" "" "c.273C>G" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000811158" "1" "70" "12" "76741494" "76741494" "dup" "0" "00000" "BBS10_000002" "g.76741494dup" "" "{PMID:Muller-2010:20177705}, {PMID:Stoetzel 2006:16582908}" "" "c.271insT" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000811159" "2" "70" "12" "76740853" "76740856" "del" "1.63131E-5" "00000" "BBS10_000012" "g.76740853_76740856del" "" "{PMID:Muller-2010:20177705}, {PMID:Stoetzel 2006:16582908}" "" "c.909delTCAG" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000811160" "1" "70" "12" "76741494" "76741494" "dup" "0" "00000" "BBS10_000002" "g.76741494dup" "" "{PMID:Muller-2010:20177705}, {PMID:Stoetzel 2006:16582908}" "" "c.271insT" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000811161" "2" "70" "12" "76740802" "76740802" "subst" "0" "00000" "BBS10_000150" "g.76740802A>C" "" "{PMID:Muller-2010:20177705}, {PMID:Stoetzel 2006:16582908}" "" "c.963T>G" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000811162" "1" "70" "12" "76741494" "76741494" "dup" "0" "00000" "BBS10_000002" "g.76741494dup" "" "{PMID:Muller-2010:20177705}, {PMID:Stoetzel 2006:16582908}" "" "c.271insT" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000811163" "2" "70" "12" "76741494" "76741494" "dup" "0" "00000" "BBS10_000002" "g.76741494dup" "" "{PMID:Muller-2010:20177705}, {PMID:Stoetzel 2006:16582908}" "" "c.271insT" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000811164" "1" "70" "12" "76741494" "76741494" "dup" "0" "00000" "BBS10_000002" "g.76741494dup" "" "{PMID:Muller-2010:20177705}, {PMID:Stoetzel 2006:16582908}" "" "c.271insT" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000811165" "2" "90" "12" "76740674" "76740674" "del" "6.51949E-5" "00000" "BBS10_000115" "g.76740674del" "" "{PMID:Muller-2010:20177705}" "" "c.1091delA" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000811166" "1" "70" "12" "76741494" "76741494" "dup" "0" "00000" "BBS10_000002" "g.76741494dup" "" "{PMID:Muller-2010:20177705}, {PMID:Stoetzel 2006:16582908}" "" "c.271insT" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000811167" "2" "90" "12" "76740163" "76740166" "del" "8.12658E-6" "00000" "BBS10_000145" "g.76740163_76740166del" "" "{PMID:Muller-2010:20177705}" "" "c.1599delAACT" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000811168" "1" "70" "12" "76741494" "76741494" "dup" "0" "00000" "BBS10_000002" "g.76741494dup" "" "{PMID:Muller-2010:20177705}, {PMID:Stoetzel 2006:16582908}" "" "c.271insT" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000811169" "2" "70" "12" "76741168" "76741173" "del" "4.06587E-6" "00000" "BBS10_000155" "g.76741168_76741173del" "" "{PMID:Muller-2010:20177705}" "" "c.591delCTTTTT" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000811170" "1" "70" "12" "76741256" "76741256" "subst" "8.17154E-6" "00000" "BBS10_000156" "g.76741256A>G" "" "{PMID:Muller-2010:20177705}, {PMID:Stoetzel 2006:16582908}" "" "c.509T>C" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000811171" "2" "70" "12" "76741256" "76741256" "subst" "8.17154E-6" "00000" "BBS10_000156" "g.76741256A>G" "" "{PMID:Muller-2010:20177705}, {PMID:Stoetzel 2006:16582908}" "" "c.509T>C" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000811172" "1" "70" "12" "76741046" "76741046" "subst" "0" "00000" "BBS10_000153" "g.76741046A>C" "" "{PMID:Muller-2010:20177705}, {PMID:Stoetzel 2006:16582908}" "" "c.719T>G" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000811173" "2" "70" "12" "76741046" "76741046" "subst" "0" "00000" "BBS10_000153" "g.76741046A>C" "" "{PMID:Muller-2010:20177705}, {PMID:Stoetzel 2006:16582908}" "" "c.719T>G" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000811174" "1" "70" "12" "76741041" "76741041" "del" "0" "00000" "BBS10_000152" "g.76741041del" "" "{PMID:Muller-2010:20177705}, {PMID:Stoetzel 2006:16582908}" "" "c.724delC" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000811175" "2" "70" "12" "76741041" "76741041" "del" "0" "00000" "BBS10_000152" "g.76741041del" "" "{PMID:Muller-2010:20177705}, {PMID:Stoetzel 2006:16582908}" "" "c.724delC" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000811176" "1" "70" "12" "76740834" "76740834" "subst" "0" "00000" "BBS10_000091" "g.76740834A>C" "" "{PMID:Muller-2010:20177705}, {PMID:Stoetzel 2006:16582908}" "" "c.931T>G" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000811177" "2" "70" "12" "76740834" "76740834" "subst" "0" "00000" "BBS10_000091" "g.76740834A>C" "" "{PMID:Muller-2010:20177705}, {PMID:Stoetzel 2006:16582908}" "" "c.931T>G" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000811178" "1" "70" "12" "76740720" "76740721" "del" "0" "00000" "BBS10_000149" "g.76740720_76740721del" "" "{PMID:Muller-2010:20177705}, {PMID:Stoetzel 2006:16582908}" "" "c.1043delTT" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000811179" "2" "70" "12" "76739700" "76739700" "subst" "1.6266E-5" "00000" "BBS10_000140" "g.76739700T>G" "" "{PMID:Muller-2010:20177705}" "" "c.2065A>C" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000811180" "1" "70" "12" "76740313" "76740317" "del" "0" "00000" "BBS10_000147" "g.76740313_76740317del" "" "{PMID:Muller-2010:20177705}, {PMID:Stoetzel 2006:16582908}" "" "c.1448delCTCAA" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000811181" "2" "70" "12" "76740313" "76740317" "del" "0" "00000" "BBS10_000147" "g.76740313_76740317del" "" "{PMID:Muller-2010:20177705}, {PMID:Stoetzel 2006:16582908}" "" "c.1448delCTCAA" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000811182" "1" "70" "12" "76740223" "76740223" "del" "0" "00000" "BBS10_000146" "g.76740223del" "" "{PMID:Muller-2010:20177705}, {PMID:Stoetzel 2006:16582908}" "" "c.1542delA" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000811183" "2" "70" "12" "76740223" "76740223" "del" "0" "00000" "BBS10_000146" "g.76740223del" "" "{PMID:Muller-2010:20177705}, {PMID:Stoetzel 2006:16582908}" "" "c.1542delA" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000811204" "3" "50" "12" "76741000" "76741000" "subst" "0.000606453" "00000" "BBS10_000087" "g.76741000C>T" "0/100 ethnically matched control chromosomes" "{PMID:Duelund Hjortshoj-2010:20120035}" "" "BBS10: c.765G>A" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000811207" "3" "70" "12" "76741494" "76741494" "dup" "0" "00000" "BBS10_000002" "g.76741494dup" "" "{PMID:Duelund Hjortshoj-2010:20120035}" "" "c.271_272insT" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000811212" "3" "70" "12" "76739705" "76739705" "subst" "0" "00000" "BBS10_000141" "g.76739705A>G" "0/100 ethnically matched control chromosomes" "{PMID:Duelund Hjortshoj-2010:20120035}" "" "c.2060C>T (p.L687P)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000811215" "0" "70" "12" "76741494" "76741494" "dup" "0" "00000" "BBS10_000002" "g.76741494dup" "" "{PMID:Duelund Hjortshoj-2010:20120035}" "" "c.271_272insT" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000811216" "0" "70" "12" "76741994" "76741994" "subst" "4.90533E-5" "00000" "BBS10_000097" "g.76741994G>A" "" "{PMID:Duelund Hjortshoj-2010:20120035}" "" "c.145C>T (p.R49W)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000811217" "3" "70" "12" "76741494" "76741494" "dup" "0" "00000" "BBS10_000002" "g.76741494dup" "" "{PMID:Duelund Hjortshoj-2010:20120035}" "" "c.271_272insT" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000811222" "3" "70" "12" "76741994" "76741994" "subst" "4.90533E-5" "00000" "BBS10_000097" "g.76741994G>A" "" "{PMID:Duelund Hjortshoj-2010:20120035}" "" "c.145C>T (p.Arg49Trp)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000811227" "0" "70" "12" "76741494" "76741494" "dup" "0" "00000" "BBS10_000002" "g.76741494dup" "" "{PMID:Duelund Hjortshoj-2010:20120035}" "" "c.271_272insT" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000811228" "0" "70" "12" "76739898" "76739898" "subst" "0" "00000" "BBS10_000142" "g.76739898G>A" "" "{PMID:Duelund Hjortshoj-2010:20120035}" "" "c.1867C>T (p.Q623X)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000811252" "0" "10" "12" "76741341" "76741341" "subst" "0.00733554" "00000" "BBS10_000071" "g.76741341C>T" "0.01" "{PMID:Duelund Hjortshoj-2010:20120035}" "" "c.42>G>A" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000811253" "0" "10" "12" "76740149" "76740149" "subst" "0.0639454" "00000" "BBS10_000078" "g.76740149G>A" "0.05" "{PMID:Duelund Hjortshoj-2010:20120035}" "" "c.1618C>T" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000811697" "0" "90" "12" "76740675" "76740675" "del" "0" "00000" "BBS10_000115" "g.76740675del" "" "{PMID:Manara 2019:31196119}" "" "BBS10 c.1091del, p.(Asn364Thrfs*5)" "heterozygous" "Germline" "yes" "rs727503818" "0" "" "" "g.76346895del" "" "pathogenic" "ACMG" "0000811700" "3" "90" "12" "76741496" "76741496" "dup" "0" "00000" "BBS10_000002" "g.76741496dup" "" "{PMID:Manara 2019:31196119}" "" "BBS10 c.271dup, p.(Cys91Leufs*5)" "homozygous" "Germline" "?" "rs549625604" "0" "" "" "g.76347716dup" "" "pathogenic" "ACMG" "0000811702" "3" "90" "12" "76741124" "76741124" "subst" "0" "00000" "BBS10_000154" "g.76741124A>T" "" "{PMID:Manara 2019:31196119}" "" "BBS10 c.641T>A, p.(Val214Glu)" "homozygous" "Germline" "" "" "0" "" "" "g.76347344A>T" "" "pathogenic" "ACMG" "0000811703" "0" "90" "12" "76740089" "76740089" "dup" "0" "00000" "BBS10_000144" "g.76740089dup" "" "{PMID:Manara 2019:31196119}" "" "BBS10 c.1676dup, p.(Tyr559*)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.76346309dup" "" "pathogenic" "ACMG" "0000811709" "0" "90" "12" "76740088" "76740088" "del" "4.0707E-6" "00000" "BBS10_000127" "g.76740088del" "" "{PMID:Manara 2019:31196119}" "" "BBS10 c.1677del, p.(Tyr559*)" "heterozygous" "Germline" "?" "" "0" "" "" "g.76346308del" "" "pathogenic" "ACMG" "0000811713" "0" "70" "12" "76740803" "76740803" "subst" "0" "00000" "BBS10_000151" "g.76740803T>C" "" "{PMID:Manara 2019:31196119}" "" "BBS10 c.962A>G, p.(Tyr321Cys)" "heterozygous" "Germline" "?" "" "0" "" "" "g.76347023T>C" "" "likely pathogenic" "ACMG" "0000811715" "0" "30" "12" "76741000" "76741000" "subst" "0.000606453" "00000" "BBS10_000087" "g.76741000C>T" "" "{PMID:Manara 2019:31196119}" "" "BBS10 c.765G>A, p.(Met255Ile)" "heterozygous" "Germline" "yes" "rs139658279" "0" "" "" "g.76347220C>T" "" "likely benign" "ACMG" "0000813033" "3" "70" "12" "76741235" "76741235" "subst" "0" "00000" "BBS10_000131" "g.76741235T>C" "" "{PMID:Atmis 2019:31951329}" "" "BBS10 p.Tyr177Cys (c.530A>G) Homozygous" "Homozygous" "Germline" "?" "" "0" "" "" "g.76347455T>C" "" "likely pathogenic" "" "0000813034" "3" "70" "12" "76740797" "76740797" "subst" "0" "00000" "BBS10_000177" "g.76740797G>A" "" "{PMID:Atmis 2019:31951329}" "" "BBS10 p.Ala323Val (c.968C>T) Homozygous" "Homozygous" "Germline" "?" "" "0" "" "" "g.76347017G>A" "" "likely pathogenic" "" "0000813035" "3" "70" "12" "76740218" "76740218" "del" "0" "00000" "BBS10_000124" "g.76740218del" "" "{PMID:Atmis 2019:31951329}" "" "BBS10 p.Thr516Asnfs*8 (c.1547delC) Homozygous" "Homozygous" "Germline" "?" "" "0" "" "" "g.76346438del" "" "likely pathogenic" "" "0000813036" "3" "70" "12" "76740218" "76740218" "del" "0" "00000" "BBS10_000124" "g.76740218del" "" "{PMID:Atmis 2019:31951329}" "" "BBS10 p.Thr516Asnfs*8 (c.1547delC) Homozygous" "Homozygous" "Germline" "?" "" "0" "" "" "g.76346438del" "" "likely pathogenic" "" "0000813037" "3" "70" "12" "76739627" "76739630" "del" "0" "00000" "BBS10_000161" "g.76739627_76739630del" "" "{PMID:Atmis 2019:31951329}" "" "BBS10 c.2135_2138delAGAA Homozygous" "Homozygous" "Germline" "?" "" "0" "" "" "g.76345847_76345850del" "" "likely pathogenic" "" "0000813083" "3" "70" "12" "76741494" "76741494" "dup" "0" "00000" "BBS10_000002" "g.76741494dup" "" "{PMID:Feuillan-2011:21209035}" "" "c.271dupT" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000813084" "3" "70" "12" "76741494" "76741494" "dup" "0" "00000" "BBS10_000002" "g.76741494dup" "" "{PMID:Feuillan-2011:21209035}" "" "c.271dupT" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000813085" "3" "70" "12" "76741494" "76741494" "dup" "0" "00000" "BBS10_000002" "g.76741494dup" "" "{PMID:Feuillan-2011:21209035}" "" "c.271dupT" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000813086" "0" "70" "12" "76741994" "76741994" "subst" "4.90533E-5" "00000" "BBS10_000097" "g.76741994G>A" "" "{PMID:Feuillan-2011:21209035}" "" "c.145C>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000813087" "0" "70" "12" "76741292" "76741292" "subst" "0" "00000" "BBS10_000181" "g.76741292G>T" "" "{PMID:Feuillan-2011:21209035}" "" "c.473C>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000813088" "0" "70" "12" "76740088" "76740088" "subst" "4.07087E-5" "00000" "BBS10_000090" "g.76740088G>T" "" "{PMID:Feuillan-2011:21209035}" "" "c.1677C>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000813089" "0" "70" "12" "76739645" "76739646" "del" "6.09746E-5" "00000" "BBS10_000099" "g.76739645_76739646del" "" "{PMID:Feuillan-2011:21209035}" "" "c.2119_2120delGT" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000813090" "0" "70" "12" "76742047" "76742047" "subst" "0" "00000" "BBS10_000187" "g.76742047G>A" "" "{PMID:Feuillan-2011:21209035}" "" "c.92C>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000813091" "0" "70" "12" "76741341" "76741341" "subst" "0.00733554" "00000" "BBS10_000071" "g.76741341C>T" "" "{PMID:Feuillan-2011:21209035}" "" "c.424G>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000813092" "3" "70" "12" "76741494" "76741494" "dup" "0" "00000" "BBS10_000002" "g.76741494dup" "" "{PMID:Feuillan-2011:21209035}" "" "c.271dupT" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000813093" "3" "70" "12" "76741494" "76741494" "dup" "0" "00000" "BBS10_000002" "g.76741494dup" "" "{PMID:Feuillan-2011:21209035}" "" "c.271dupT" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000813094" "0" "70" "12" "76741494" "76741494" "dup" "0" "00000" "BBS10_000002" "g.76741494dup" "" "{PMID:Feuillan-2011:21209035}" "" "c.271dupT" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000813095" "0" "70" "12" "76741959" "76741959" "dup" "0" "00000" "BBS10_000186" "g.76741959dup" "" "{PMID:Feuillan-2011:21209035}" "" "c.180dupA" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000813096" "0" "70" "12" "76739958" "76739958" "subst" "0" "00000" "BBS10_000164" "g.76739958C>T" "" "{PMID:Feuillan-2011:21209035}" "" "c.1807G>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000813097" "0" "70" "12" "76741494" "76741494" "dup" "0" "00000" "BBS10_000002" "g.76741494dup" "" "{PMID:Feuillan-2011:21209035}" "" "c.271dupT" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000813098" "3" "70" "12" "76741494" "76741494" "dup" "0" "00000" "BBS10_000002" "g.76741494dup" "" "{PMID:Feuillan-2011:21209035}" "" "c.271dupT" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000813099" "0" "70" "12" "76740581" "76740581" "dup" "0" "00000" "BBS10_000173" "g.76740581dup" "" "{PMID:Feuillan-2011:21209035}" "" "c.1184dupA" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000813100" "0" "70" "12" "76739645" "76739646" "del" "6.09746E-5" "00000" "BBS10_000099" "g.76739645_76739646del" "" "{PMID:Feuillan-2011:21209035}" "" "c.2119_2120delGT" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000813101" "0" "70" "12" "76740581" "76740581" "dup" "0" "00000" "BBS10_000173" "g.76740581dup" "" "{PMID:Feuillan-2011:21209035}" "" "c.1184dupA" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000813102" "0" "70" "12" "76739645" "76739646" "del" "6.09746E-5" "00000" "BBS10_000099" "g.76739645_76739646del" "" "{PMID:Feuillan-2011:21209035}" "" "c.2119_2120delGT" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000813103" "0" "70" "12" "76741494" "76741494" "dup" "0" "00000" "BBS10_000002" "g.76741494dup" "" "{PMID:Feuillan-2011:21209035}" "" "c.271dupT" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000813104" "0" "70" "12" "76739961" "76739961" "subst" "4.10775E-6" "00000" "BBS10_000165" "g.76739961C>G" "" "{PMID:Feuillan-2011:21209035}" "" "c.1804G>C" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000813105" "3" "70" "12" "76741494" "76741494" "dup" "0" "00000" "BBS10_000002" "g.76741494dup" "" "{PMID:Feuillan-2011:21209035}" "" "c.271dupT" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000813106" "0" "70" "12" "76741994" "76741994" "subst" "4.90533E-5" "00000" "BBS10_000097" "g.76741994G>A" "" "{PMID:Feuillan-2011:21209035}" "" "c.145C>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000813107" "0" "70" "12" "76739961" "76739961" "subst" "4.10775E-6" "00000" "BBS10_000165" "g.76739961C>G" "" "{PMID:Feuillan-2011:21209035}" "" "c.1804G>C" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000813116" "3" "90" "12" "76741994" "76741994" "subst" "4.90533E-5" "00000" "BBS10_000097" "g.76741994G>A" "" "{PMID:Billingsley-2010:20472660}" "" "[R49W]+[R49W]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000813117" "1" "90" "12" "76741492" "76741492" "subst" "3.28688E-5" "00000" "BBS10_000113" "g.76741492G>C" "" "{PMID:Billingsley-2010:20472660}" "" "[C91W]+[V707XfsX1]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000813118" "2" "90" "12" "0" "0" "" "0" "00000" "ALX1_000001" "g.?" "" "{PMID:Billingsley-2010:20472660}" "" "[C91W]+[V707XfsX1]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000813120" "1" "90" "12" "0" "0" "" "0" "00000" "ALX1_000001" "g.?" "" "{PMID:Billingsley-2010:20472660}" "" "[C91LfsX5]+[E104KfsX7]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000813121" "2" "90" "12" "0" "0" "" "0" "00000" "ALX1_000001" "g.?" "" "{PMID:Billingsley-2010:20472660}" "" "[C91LfsX5]+[E104KfsX7]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000813122" "1" "90" "12" "76741492" "76741492" "subst" "3.28688E-5" "00000" "BBS10_000113" "g.76741492G>C" "" "{PMID:Billingsley-2010:20472660}" "" "[C91W]+[A474MfsX10]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000813123" "2" "90" "12" "0" "0" "" "0" "00000" "ALX1_000001" "g.?" "" "{PMID:Billingsley-2010:20472660}" "" "[C91W]+[A474MfsX10]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000813124" "1" "90" "12" "0" "0" "" "0" "00000" "ALX1_000001" "g.?" "" "{PMID:Billingsley-2010:20472660}" "" "[C91LfsX5]+[V230FfsX7]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000813125" "2" "90" "12" "0" "0" "" "0" "00000" "ALX1_000001" "g.?" "" "{PMID:Billingsley-2010:20472660}" "" "[C91LfsX5]+[V230FfsX7]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000813126" "1" "90" "12" "0" "0" "" "0" "00000" "ALX1_000001" "g.?" "" "{PMID:Billingsley-2010:20472660}" "" "[C91LfsX5]+[Y559X]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000813127" "2" "90" "12" "0" "0" "" "0" "00000" "ALX1_000001" "g.?" "" "{PMID:Billingsley-2010:20472660}" "" "[C91LfsX5]+[Y559X]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000813129" "3" "90" "12" "76739858" "76739858" "subst" "0" "00000" "BBS10_000162" "g.76739858G>A" "" "{PMID:Billingsley-2010:20472660}" "" "[K188T;A636V]+[K188T;A636V]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000813130" "3" "90" "12" "76741202" "76741202" "subst" "0" "00000" "BBS10_000180" "g.76741202T>G" "" "{PMID:Billingsley-2010:20472660}" "" "[K188T;A636V]+[K188T;A636V]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000813133" "3" "90" "12" "0" "0" "" "0" "00000" "ALX1_000001" "g.?" "" "{PMID:Billingsley-2010:20472660}" "" "[C91LfsX5]+[C91LfsX5]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000813135" "1" "90" "12" "76741975" "76741975" "subst" "0" "00000" "BBS10_000096" "g.76741975A>G" "" "{PMID:Billingsley-2010:20472660}" "" "[L55P]+[E274VfsX29]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000813136" "2" "90" "12" "0" "0" "" "0" "00000" "ALX1_000001" "g.?" "" "{PMID:Billingsley-2010:20472660}" "" "[L55P]+[E274VfsX29]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000813142" "1" "90" "12" "0" "0" "" "0" "00000" "ALX1_000001" "g.?" "" "{PMID:Billingsley-2010:20472660}" "" "[C91LfsX5]+[L414S]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000813143" "2" "90" "12" "0" "0" "" "0" "00000" "ALX1_000001" "g.?" "" "{PMID:Billingsley-2010:20472660}" "" "[C91LfsX5]+[L414S]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000813144" "1" "90" "12" "0" "0" "" "0" "00000" "ALX1_000001" "g.?" "" "{PMID:Billingsley-2010:20472660}" "" "[C91LfsX5]+[H410Q]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000813145" "2" "90" "12" "76740535" "76740535" "subst" "0" "00000" "BBS10_000171" "g.76740535A>T" "" "{PMID:Billingsley-2010:20472660}" "" "[C91LfsX5]+[H410Q]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000813146" "1" "90" "12" "0" "0" "" "0" "00000" "ALX1_000001" "g.?" "" "{PMID:Billingsley-2010:20472660}" "" "[C91LfsX5]+[H410Q]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000813147" "2" "90" "12" "76740535" "76740535" "subst" "0" "00000" "BBS10_000171" "g.76740535A>T" "" "{PMID:Billingsley-2010:20472660}" "" "[C91LfsX5]+[H410Q]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000813149" "3" "90" "12" "0" "0" "" "0" "00000" "ALX1_000001" "g.?" "" "{PMID:Billingsley-2010:20472660}" "" "[C91LfsX5]+[C91LfsX5]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000813150" "0" "50" "12" "76740520" "76740520" "subst" "0.000325111" "00000" "BBS10_000170" "g.76740520A>G" "" "{PMID:Billingsley-2010:20472660}" "" "[H415H]+[=]" "normal 2nd chromosome" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000813175" "0" "50" "12" "76740879" "76740879" "subst" "0.000367257" "00000" "BBS10_000085" "g.76740879C>T" "" "{PMID:Billingsley-2010:20472660}" "" "[A296T]+[=]" "normal 2nd chromosome" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000813177" "0" "50" "12" "76739621" "76739621" "subst" "4.47133E-5" "00000" "BBS10_000160" "g.76739621T>C" "" "{PMID:Billingsley-2010:20472660}" "" "[H715R]+[=]" "normal 2nd chromosome" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000813242" "0" "50" "12" "76742190" "76742190" "subst" "0.00945302" "00000" "BBS10_000188" "g.76742190G>A" "" "{PMID:Abu-Safieh-2012:22353939}, Abu-Safieh 2010" "" "c.-52C>T" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000813264" "3" "70" "12" "76740400" "76740400" "subst" "0" "00000" "BBS10_000169" "g.76740400A>C" "0/96 ethnically matched controls" "{PMID:Abu-Safieh-2012:22353939}" "" "c.1365T>G p.(Y455*)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000813299" "3" "70" "12" "76739872" "76739876" "del" "0" "00000" "BBS10_000163" "g.76739872_76739876del" "0/96 ethnically matched controls" "{PMID:Abu-Safieh-2012:22353939}" "" "c.1889_1893del p.(S630Nfs*4)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000813319" "3" "70" "12" "76741034" "76741037" "del" "4.0797E-6" "00000" "BBS10_000126" "g.76741034_76741037del" "0/96 ethnically matched controls" "{PMID:Abu-Safieh-2012:22353939}, Stoetzel 2006" "" "c.728_731del p.(K243Ifs*15)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000813321" "3" "70" "12" "76741034" "76741037" "del" "4.0797E-6" "00000" "BBS10_000126" "g.76741034_76741037del" "0/96 ethnically matched controls" "{PMID:Abu-Safieh-2012:22353939}, Stoetzel 2006" "" "c.728_731del p.(K243Ifs*15)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000813324" "3" "70" "12" "76741034" "76741037" "del" "4.0797E-6" "00000" "BBS10_000126" "g.76741034_76741037del" "0/96 ethnically matched controls" "{PMID:Abu-Safieh-2012:22353939}, Stoetzel 2006" "" "c.728_731del p.(K243Ifs*15)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000813799" "3" "70" "12" "76740581" "76740581" "subst" "4.06421E-6" "00000" "BBS10_000159" "g.76740581T>C" "" "{PMID:Chakrabarty 2020:31639430}" "" "c.1184A>G , H395R" "Homozygous" "Germline" "yes" "" "0" "" "" "g.76346801T>C" "" "likely pathogenic" "" "0000813802" "3" "70" "12" "76740581" "76740581" "subst" "4.06421E-6" "00000" "BBS10_000159" "g.76740581T>C" "" "{PMID:Chakrabarty 2020:31639430}" "" "c.1184A>G , H395R" "Homozygous" "Germline" "yes" "" "0" "" "" "g.76346801T>C" "" "likely pathogenic" "" "0000813913" "3" "70" "12" "76740164" "76740167" "del" "0" "00000" "BBS10_000167" "g.76740164_76740167delGTTA" "" "{PMID:Chen-2011:21642631}" "" "c.1598_1601delTAAC" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000813915" "3" "70" "12" "0" "0" "" "0" "00000" "ALX1_000001" "g.?" "" "{PMID:Chen-2011:21642631}" "" "c.1090del>A" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000813919" "0" "30" "12" "76740432" "76740432" "subst" "0.000158473" "00000" "BBS10_000112" "g.76740432G>T" "" "{PMID:Chen-2011:21642631}" "" "c.1333C>A" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000813944" "3" "70" "12" "76741492" "76741493" "ins" "0" "00000" "BBS10_000094" "g.76741492_76741493insA" "" "{PMID:Chen-2011:21642631}" "" "c.272 insertion T" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000813945" "3" "70" "12" "76741492" "76741493" "ins" "0" "00000" "BBS10_000094" "g.76741492_76741493insA" "" "{PMID:Chen-2011:21642631}" "" "c.272 insertion T" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000813946" "3" "70" "12" "0" "0" "" "0" "00000" "ALX1_000001" "g.?" "" "{PMID:Chen-2011:21642631}" "" "c.272 insertion T" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000813947" "3" "90" "12" "76740270" "76740270" "subst" "4.06421E-6" "00000" "BBS10_000128" "g.76740270C>A" "" "{PMID:Chen-2011:21642631}" "" "c.1495G>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000813948" "3" "30" "12" "76740797" "76740797" "subst" "0" "00000" "BBS10_000177" "g.76740797G>A" "" "{PMID:Chen-2011:21642631}" "" "c.968C>T" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000813949" "0" "70" "12" "76741492" "76741493" "ins" "0" "00000" "BBS10_000094" "g.76741492_76741493insA" "" "{PMID:Chen-2011:21642631}" "" "c.272>insertion>T" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000813950" "0" "70" "12" "76740855" "76740858" "del" "0" "00000" "BBS10_000178" "g.76740855_76740858delGACT" "" "{PMID:Chen-2011:21642631}" "" "c.907_910delAGTC" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000813951" "0" "70" "12" "76741492" "76741493" "ins" "0" "00000" "BBS10_000094" "g.76741492_76741493insA" "" "{PMID:Chen-2011:21642631}" "" "c.272>insertion>T" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000813952" "0" "70" "12" "76740855" "76740858" "del" "0" "00000" "BBS10_000178" "g.76740855_76740858delGACT" "" "{PMID:Chen-2011:21642631}" "" "c.907_910delAGTC" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000813953" "0" "70" "12" "76741492" "76741493" "ins" "0" "00000" "BBS10_000094" "g.76741492_76741493insA" "" "{PMID:Chen-2011:21642631}" "" "c.272>insertion>T" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000813954" "0" "70" "12" "76740088" "76740088" "subst" "4.07087E-5" "00000" "BBS10_000090" "g.76740088G>T" "" "{PMID:Chen-2011:21642631}" "" "c.1677C>A" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000813955" "0" "70" "12" "76741078" "76741078" "del" "0" "00000" "BBS10_000179" "g.76741078delA" "" "{PMID:Chen-2011:21642631}" "" "c.687delT" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000813956" "0" "70" "12" "76740855" "76740858" "del" "0" "00000" "BBS10_000178" "g.76740855_76740858delGACT" "" "{PMID:Chen-2011:21642631}" "" "c.907_910delAGTC" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000813957" "0" "70" "12" "76741994" "76741994" "subst" "4.90533E-5" "00000" "BBS10_000097" "g.76741994G>A" "" "{PMID:Chen-2011:21642631}" "" "c.145C>T" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000813958" "0" "30" "12" "76739961" "76739961" "subst" "4.10775E-6" "00000" "BBS10_000165" "g.76739961C>G" "" "{PMID:Chen-2011:21642631}" "" "c.1804G>C" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000813959" "0" "70" "12" "76741975" "76741975" "subst" "0" "00000" "BBS10_000096" "g.76741975A>G" "" "{PMID:Chen-2011:21642631}" "" "c.164T>C" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000813960" "0" "70" "12" "76740219" "76740222" "dup" "0" "00000" "BBS10_000168" "g.76740219_76740222dupTATC" "" "{PMID:Chen-2011:21642631}" "" "c.1543_1546dupGATA" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000813992" "3" "90" "12" "76740524" "76740524" "subst" "0" "00000" "BBS10_000148" "g.76740524A>G" "" "{PMID:Redin-2012:22773737}" "" "c.[1241T>C];" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000814008" "3" "90" "12" "76740524" "76740524" "subst" "0" "00000" "BBS10_000148" "g.76740524A>G" "" "{PMID:Redin-2012:22773737}" "" "c.[1241T>C];" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000814009" "0" "90" "12" "0" "0" "" "0" "00000" "ALX1_000001" "g.?" "" "{PMID:Redin-2012:22773737}" "" "c.[1448e1452delCTCAA];[?]" "unknown variant 2nd chromosome" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000814011" "0" "90" "12" "0" "0" "" "0" "00000" "ALX1_000001" "g.?" "" "{PMID:Redin-2012:22773737}" "" "c.[2119e2120delGT];[285A>T]" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000814012" "0" "90" "12" "76741480" "76741480" "subst" "0" "00000" "BBS10_000182" "g.76741480T>A" "" "{PMID:Redin-2012:22773737}" "" "c.285A>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000814028" "3" "90" "12" "76740655" "76740655" "subst" "0" "00000" "BBS10_000175" "g.76740655C>T" "" "{PMID:Redin-2012:22773737}" "" "c.[1110G>A];[1110G>A]" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000814032" "3" "70" "12" "76741994" "76741994" "subst" "4.90533E-5" "00000" "BBS10_000097" "g.76741994G>A" "" "{PMID:Schaefer-2011:21044901}" "" "c.145C>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000814034" "3" "70" "12" "76741493" "76741494" "ins" "0.000562591" "00000" "BBS10_000183" "g.76741493_76741494insA" "" "{PMID:Schaefer-2011:21044901}" "" "c.271_272insT" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000814035" "0" "70" "12" "76741493" "76741494" "ins" "0.000562591" "00000" "BBS10_000183" "g.76741493_76741494insA" "" "{PMID:Schaefer-2011:21044901}" "" "c.271_272insT" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000814036" "20" "70" "12" "76740674" "76740674" "del" "0" "00000" "BBS10_000176" "g.76740674delT" "" "{PMID:Schaefer-2011:21044901}" "" "c.1091delA" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000814063" "3" "90" "12" "76740584" "76740594" "dup" "0" "00000" "BBS10_000174" "g.76740584_76740594dupGGTATAAATGC" "" "{PMID:M\'hamdi-2014:23432027}" "" "c.[1171_1181dupGCATTTATACC]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000814105" "0" "70" "12" "0" "0" "" "0" "00000" "ALX1_000001" "g.?" "" "{PMID:Imhoff-2011:20876674}" "" "[p.L55P];[p.E274VfsX29]" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000814106" "0" "50" "12" "0" "0" "" "0" "00000" "ALX1_000001" "g.?" "" "{PMID:Imhoff-2011:20876674}" "" "[p.A242S]" "normal 2nd chromosome" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000814107" "0" "70" "12" "0" "0" "" "0" "00000" "ALX1_000001" "g.?" "" "{PMID:Imhoff-2011:20876674}" "" "[p.C91LfsX5];[p.H410Q]" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000814108" "0" "70" "12" "0" "0" "" "0" "00000" "ALX1_000001" "g.?" "" "{PMID:Imhoff-2011:20876674}" "" "[p.C91LfsX5];[p.H410Q]" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000814109" "0" "70" "12" "0" "0" "" "0" "00000" "ALX1_000001" "g.?" "" "{PMID:Imhoff-2011:20876674}" "" "[p.F534A]" "normal 2nd chromosome" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000814110" "0" "50" "12" "76741994" "76741994" "subst" "4.90533E-5" "00000" "BBS10_000097" "g.76741994G>A" "" "{PMID:Imhoff-2011:20876674}" "" "[p.T488K]" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000814111" "0" "50" "12" "76741994" "76741994" "subst" "4.90533E-5" "00000" "BBS10_000097" "g.76741994G>A" "" "{PMID:Imhoff-2011:20876674}" "" "[p.L665F]" "normal 2nd chromosome" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000814112" "0" "50" "12" "76740524" "76740524" "subst" "0" "00000" "BBS10_000148" "g.76740524A>G" "" "{PMID:Imhoff-2011:20876674}" "" "[p.A488T]" "normal 2nd chromosome" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000814129" "1" "70" "12" "76740879" "76740879" "subst" "0.000367257" "00000" "BBS10_000085" "g.76740879C>T" "" "{PMID:Deveault-2011:21344540}" "" "[p.D104A];[p.R632P]" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000814132" "1" "70" "12" "76739621" "76739621" "subst" "4.47133E-5" "00000" "BBS10_000160" "g.76739621T>C" "" "{PMID:Deveault-2011:21344540}" "" "[p.G63R];[IVS6+2T>C]" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000814185" "3" "70" "12" "76741994" "76741994" "subst" "4.90533E-5" "00000" "BBS10_000097" "g.76741994G>A" "" "{PMID:Deveault-2011:21344540}" "" "K41fsX52/K41fsX52" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000814187" "3" "70" "12" "76741492" "76741492" "subst" "3.28688E-5" "00000" "BBS10_000113" "g.76741492G>C" "" "{PMID:Deveault-2011:21344540}" "" "R278X/R278X" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000814188" "3" "70" "12" "0" "0" "" "0" "00000" "ALX1_000001" "g.?" "" "{PMID:Deveault-2011:21344540}" "" "C91fsX95/C91fsX95" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000814189" "3" "70" "12" "76741492" "76741493" "ins" "0" "00000" "BBS10_000094" "g.76741492_76741493insA" "" "{PMID:Deveault-2011:21344540}" "" "R49W/R49W" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000814190" "3" "70" "12" "0" "0" "" "0" "00000" "ALX1_000001" "g.?" "" "{PMID:Deveault-2011:21344540}" "" "F372fsX373/F372fsX373" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000814191" "3" "70" "12" "76741492" "76741492" "subst" "3.28688E-5" "00000" "BBS10_000113" "g.76741492G>C" "" "{PMID:Deveault-2011:21344540}" "" "R355X/R355X" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000814192" "3" "70" "12" "0" "0" "" "0" "00000" "ALX1_000001" "g.?" "" "{PMID:Deveault-2011:21344540}" "" "T257fsX266/T257fsX266" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000814193" "3" "70" "12" "76741492" "76741493" "ins" "0" "00000" "BBS10_000094" "g.76741492_76741493insA" "" "{PMID:Deveault-2011:21344540}" "" "[p.R160Q];[p.R160Q]" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000814194" "3" "70" "12" "0" "0" "" "0" "00000" "ALX1_000001" "g.?" "" "{PMID:Deveault-2011:21344540}" "" "[p.M390R];[p.M390R]" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000814196" "3" "70" "12" "76741492" "76741493" "ins" "0" "00000" "BBS10_000094" "g.76741492_76741493insA" "" "{PMID:Deveault-2011:21344540}" "" "[p.M390R];[p.M390R]" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000814197" "3" "70" "12" "76740088" "76740088" "subst" "4.07087E-5" "00000" "BBS10_000090" "g.76740088G>T" "" "{PMID:Deveault-2011:21344540}" "" "[p.M390R];[p.M390R]" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000814200" "3" "70" "12" "76739858" "76739858" "subst" "0" "00000" "BBS10_000162" "g.76739858G>A" "" "{PMID:Deveault-2011:21344540}" "" "[p.M390R];[p.M390R]" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000814201" "3" "70" "12" "76741202" "76741202" "subst" "0" "00000" "BBS10_000180" "g.76741202T>G" "" "{PMID:Deveault-2011:21344540}" "" "[p.M390R];[p.M390R]" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000814202" "3" "70" "12" "76741492" "76741493" "ins" "0" "00000" "BBS10_000094" "g.76741492_76741493insA" "" "{PMID:Deveault-2011:21344540}" "" "[p.125R];[p.L125R]" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000814203" "3" "70" "12" "0" "0" "" "0" "00000" "ALX1_000001" "g.?" "" "{PMID:Deveault-2011:21344540}" "" "[p.125R];[p.L125R]" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000814205" "3" "70" "12" "76741975" "76741975" "subst" "0" "00000" "BBS10_000096" "g.76741975A>G" "" "{PMID:Deveault-2011:21344540}" "" "[p.R413X];[p.R413X]" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000814207" "3" "70" "12" "0" "0" "" "0" "00000" "ALX1_000001" "g.?" "" "{PMID:Deveault-2012:21344540}" "" "[p.T157T];[p.T157T]" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000814208" "3" "70" "12" "0" "0" "" "0" "00000" "ALX1_000001" "g.?" "" "{PMID:Deveault-2011:21344540}" "" "(c.157-3C>G)+(c.157-3C>G)" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000814209" "3" "70" "12" "0" "0" "" "0" "00000" "ALX1_000001" "g.?" "" "{PMID:Deveault-2011:21344540}" "" "(c.157-3C>G)+(c.157-3C>G)" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000814210" "3" "70" "12" "76741492" "76741493" "ins" "0" "00000" "BBS10_000094" "g.76741492_76741493insA" "" "{PMID:Deveault-2011:21344540}" "" "[p.G72S];[p.G72S]" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000814211" "3" "70" "12" "76740524" "76740524" "subst" "0" "00000" "BBS10_000148" "g.76740524A>G" "" "{PMID:Deveault-2011:21344540}" "" "[c.387-618del232];[c.387-618del232]" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000814212" "3" "70" "12" "76741492" "76741493" "ins" "0" "00000" "BBS10_000094" "g.76741492_76741493insA" "" "{PMID:Deveault-2012:21344540}" "" "[p.C99R]+[p.C99R]" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000814213" "3" "70" "12" "76740535" "76740535" "subst" "4.06362E-6" "00000" "BBS10_000172" "g.76740535A>C" "" "{PMID:Deveault-2013:21344540}" "" "[p.F94SfsX9];[p.F94SfsX9]" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000814215" "3" "70" "12" "76741492" "76741493" "ins" "0" "00000" "BBS10_000094" "g.76741492_76741493insA" "" "{PMID:Deveault-2011:21344540}" "" "[p.P299L];[p.P299L]" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000814216" "3" "70" "12" "76740535" "76740535" "subst" "4.06362E-6" "00000" "BBS10_000172" "g.76740535A>C" "" "{PMID:Deveault-2011:21344540}" "" "[c.235+1G>A];[c.235+1G>A]" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000814217" "3" "70" "12" "76741492" "76741493" "ins" "0" "00000" "BBS10_000094" "g.76741492_76741493insA" "" "{PMID:Deveault-2011:21344540}" "" "[p.T111LfsX22];[p.T111LfsX22]" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000814218" "3" "70" "12" "76741492" "76741493" "ins" "0" "00000" "BBS10_000094" "g.76741492_76741493insA" "" "{PMID:Deveault-2011:21344540}" "" "[p.R49W];[p.R49W]" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000814219" "3" "70" "12" "76740358" "76740358" "subst" "0" "00000" "BBS10_000111" "g.76740358A>C" "" "{PMID:Deveault-2011:21344540}" "" "[p.K188T; p.A636V];[p.K188T; p.A636V]" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000814220" "3" "70" "12" "76741941" "76741941" "subst" "0" "00000" "BBS10_000185" "g.76741941C>A" "" "{PMID:Deveault-2011:21344540}" "" "[p.K188T; p.A636V];[p.K188T; p.A636V]" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000814221" "3" "70" "12" "76739966" "76739966" "subst" "0" "00000" "BBS10_000166" "g.76739966A>G" "" "{PMID:Deveault-2011:21344540}" "" "[p.C91LfsX5];[p.C91LfsX5]" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000814226" "3" "70" "12" "0" "0" "" "0" "00000" "ALX1_000001" "g.?" "" "{PMID:Deveault-2011:21344540}" "" "[p.V400M; p.R674C];[p.V400M; p.R674C]" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000814254" "0" "70" "12" "76741494" "76741494" "dup" "0" "00000" "BBS10_000184" "g.76741494dupC" "" "{PMID:Dulfer-2010:20827784}" "" "R49W/L414S" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000814257" "0" "50" "12" "76741494" "76741494" "dup" "0" "00000" "BBS10_000184" "g.76741494dupC" "" "{PMID:Dulfer-2010:20827784}" "" "(c.271dupG; p.Cys91fs)" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000814518" "0" "90" "12" "0" "0" "del" "0" "00000" "ALX1_000001" "g.?" "" "{PMID:Janssen-2011:21052717}" "" "c.687delA(h)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000814519" "0" "90" "12" "76741494" "76741494" "dup" "0" "00000" "BBS10_000002" "g.76741494dup" "" "{PMID:Janssen-2011:21052717}" "" "c.271_272insT(h)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000814527" "0" "90" "12" "76741494" "76741494" "dup" "0" "00000" "BBS10_000002" "g.76741494dup" "" "{PMID:Janssen-2011:21052717}" "" "c.271_272insT(h)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000814528" "0" "90" "12" "76740089" "76740089" "dup" "0" "00000" "BBS10_000144" "g.76740089dup" "" "{PMID:Janssen-2011:21052717}" "" "c.1676_1677insA(h)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000814529" "0" "90" "12" "76740088" "76740088" "del" "4.0707E-6" "00000" "BBS10_000127" "g.76740088del" "" "{PMID:Janssen-2011:21052717}" "" "c.1677delC(h)" "Family AR232 (A2839) has previously been published for this heterozygous change in BBS10 (p.Y559fsX1) by Stoetzel et al. 2006" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000814530" "0" "90" "12" "76741494" "76741494" "dup" "0" "00000" "BBS10_000002" "g.76741494dup" "" "{PMID:Janssen-2011:21052717}" "" "c.271_272insT(h)" "Family AR232 (A2839) has previously been published for this heterozygous change in BBS10 (p.Y559fsX1) by Stoetzel et al. 2006" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000814531" "0" "90" "12" "76740088" "76740088" "del" "4.0707E-6" "00000" "BBS10_000127" "g.76740088del" "" "{PMID:Janssen-2011:21052717}" "" "c.1677delC(h)" "Family AR232 (A2839) has previously been published for this heterozygous change in BBS10 (p.Y559fsX1) by Stoetzel et al. 2006" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000814532" "0" "90" "12" "76741494" "76741494" "dup" "0" "00000" "BBS10_000002" "g.76741494dup" "" "{PMID:Janssen-2011:21052717}" "" "c.271_272insT(h)" "Family AR232 (A2839) has previously been published for this heterozygous change in BBS10 (p.Y559fsX1) by Stoetzel et al. 2006" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000814534" "0" "90" "12" "76741494" "76741494" "dup" "0" "00000" "BBS10_000002" "g.76741494dup" "" "{PMID:Janssen-2011:21052717}" "" "c.271_272insT(h)" "Family AR371 (A2850) and AR707 (A2864) have previously been published for this heterozygous change in BBS10 (p.C91fsX5) by Stoetzel et al. 2006" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000814535" "0" "90" "12" "76740866" "76740866" "subst" "4.07767E-6" "00000" "BBS10_000195" "g.76740866T>G" "" "{PMID:Janssen-2011:21052717}" "" "c.899A>C(h)" "Family AR371 (A2850) and AR707 (A2864) have previously been published for this heterozygous change in BBS10 (p.C91fsX5) by Stoetzel et al. 2006" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000814536" "0" "90" "12" "76741494" "76741494" "dup" "0" "00000" "BBS10_000002" "g.76741494dup" "" "{PMID:Janssen-2011:21052717}" "" "c.271_272insT(h)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000814537" "0" "90" "12" "76740515" "76740515" "subst" "0" "00000" "BBS10_000191" "g.76740515G>A" "" "{PMID:Janssen-2011:21052717}" "" "c.1250C>T(h)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000814548" "0" "90" "12" "76741494" "76741494" "dup" "0" "00000" "BBS10_000002" "g.76741494dup" "" "{PMID:Janssen-2011:21052717}" "" "c.271_272insT(h)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000814549" "0" "90" "12" "76740358" "76740358" "subst" "0" "00000" "BBS10_000111" "g.76740358A>C" "" "{PMID:Janssen-2011:21052717}" "" "c.1407T>G(h)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000814550" "0" "90" "12" "76741494" "76741494" "dup" "0" "00000" "BBS10_000002" "g.76741494dup" "" "{PMID:Janssen-2011:21052717}" "" "c.271_272insT(h)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000814551" "0" "90" "12" "76740358" "76740358" "subst" "0" "00000" "BBS10_000111" "g.76740358A>C" "" "{PMID:Janssen-2011:21052717}" "" "c.1407T>G(h)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000814565" "3" "90" "12" "76741494" "76741494" "dup" "0" "00000" "BBS10_000002" "g.76741494dup" "" "{PMID:Janssen-2011:21052717}" "" "c.271_272insT(H)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000814566" "0" "90" "12" "76741494" "76741494" "dup" "0" "00000" "BBS10_000002" "g.76741494dup" "" "{PMID:Janssen-2011:21052717}" "" "c.271_272insT(h)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000814567" "0" "90" "12" "76741374" "76741374" "del" "4.08513E-6" "00000" "BBS10_000198" "g.76741374del" "" "{PMID:Janssen-2011:21052717}" "" "c.391delC(h)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000814568" "0" "90" "12" "76741494" "76741494" "dup" "0" "00000" "BBS10_000002" "g.76741494dup" "" "{PMID:Janssen-2011:21052717}" "" "c.271_272insT(h)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000814569" "0" "90" "12" "76741374" "76741374" "del" "4.08513E-6" "00000" "BBS10_000198" "g.76741374del" "" "{PMID:Janssen-2011:21052717}" "" "c.391delC(h)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000814570" "3" "90" "12" "76741226" "76741226" "subst" "0" "00000" "BBS10_000197" "g.76741226C>T" "" "{PMID:Janssen-2011:21052717}" "" "c.539G>A(H)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000814587" "0" "70" "12" "76740175" "76740175" "subst" "0.000125948" "00000" "BBS10_000189" "g.76740175T>G" "0.9% ; absent in 96 controls" "{PMID:Janssen-2011:21052717}" "" "c.1590A>C(h)" "unknown variant 2nd chromosome" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000814636" "0" "70" "12" "76740773" "76740773" "subst" "0" "00000" "BBS10_000193" "g.76740773A>G" "" "{PMID:Alvarez-Satta-2014:24611592}" "" "c.992T>C/p.(Val331Ala)b,c" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000814637" "0" "70" "12" "76740163" "76740166" "del" "8.12658E-6" "00000" "BBS10_000145" "g.76740163_76740166del" "0/100 chromosomes" "{PMID:Alvarez-Satta-2014:24611592}" "" "c.1599_1602delAACT/p.(Leu533Leufs*21)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000814639" "0" "70" "12" "76741494" "76741494" "dup" "0" "00000" "BBS10_000002" "g.76741494dup" "" "{PMID:Alvarez-Satta-2014:24611592}" "" "c.271_272insT/p.(Cys91Leufs*4)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000814640" "0" "70" "12" "76740750" "76740752" "del" "1.64116E-5" "00000" "BBS10_000192" "g.76740750_76740752del" "0/100 chromosomes" "{PMID:Alvarez-Satta-2014:24611592}" "" "c.1009_1011delGAA/p.(Glu337del)b" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000814641" "0" "70" "12" "76741494" "76741494" "dup" "0" "00000" "BBS10_000002" "g.76741494dup" "" "{PMID:Alvarez-Satta-2014:24611592}" "" "c.271_272insT/p.(Cys91Leufs*4)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000814642" "0" "70" "12" "76740254" "76740255" "del" "0" "00000" "BBS10_000190" "g.76740254_76740255del" "0/100 chromosomes" "{PMID:Alvarez-Satta-2014:24611592}" "" "c.1509_1510delTA/p.(Tyr503Tyrfs*17)b" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000814656" "0" "50" "12" "76741994" "76741994" "subst" "4.90533E-5" "00000" "BBS10_000097" "g.76741994G>A" "" "{PMID:Lindstrand-2014:24746959}" "" "c.145C>T(p.Arg49Trp);het" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000814658" "0" "50" "12" "76741994" "76741994" "subst" "4.90533E-5" "00000" "BBS10_000097" "g.76741994G>A" "" "{PMID:Lindstrand-2014:24746959}" "" "c.145C>T(p.Arg49Trp);het" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000814667" "0" "90" "12" "76740839" "76740839" "subst" "4.07784E-6" "00000" "BBS10_000194" "g.76740839A>G" "" "{PMID:Lindstrand-2014:24746959}" "" "c.926T>C(p.Leu309Pro);het" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000814669" "0" "90" "12" "76742125" "76742130" "del" "0" "00000" "BBS10_000199" "g.76742125_76742130del" "" "{PMID:Lindstrand-2014:24746959}" "" "c.9_14delTTCTAT(p.Ser3_Met5delinsArg);het" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000814670" "3" "90" "12" "76741494" "76741494" "dup" "0" "00000" "BBS10_000002" "g.76741494dup" "" "{PMID:Lindstrand-2014:24746959}" "" "c.271dupT(Cys91Leufs*5);hom" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000815082" "3" "90" "12" "0" "0" "" "0" "00000" "ALX1_000001" "g.?" "50 control individuals" "{PMID:Khan 2013:23219996}" "" "p.Gln359*" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000815083" "3" "90" "12" "0" "0" "" "0" "00000" "ALX1_000001" "g.?" "" "{PMID:Khan 2013:23219996}" "" "p.Gln359*" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000815084" "3" "90" "12" "0" "0" "" "0" "00000" "ALX1_000001" "g.?" "" "{PMID:Khan 2013:23219996}" "" "p.Gln359*" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000815085" "3" "90" "12" "0" "0" "" "0" "00000" "ALX1_000001" "g.?" "" "{PMID:Khan 2013:23219996}" "" "p.Gln359*" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000815086" "3" "90" "12" "0" "0" "" "0" "00000" "ALX1_000001" "g.?" "" "{PMID:Khan 2013:23219996}" "" "p.Gln359*" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000817445" "3" "70" "12" "76740915" "76740915" "subst" "8.18525E-6" "00000" "BBS10_000196" "g.76740915G>A" "" "{PMID:Castro Sanchez 2015:26082521}" "" "p.(Gln284*)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000817446" "0" "70" "12" "0" "0" "" "0" "00000" "ALX1_000001" "g.?" "" "{PMID:Castro Sanchez 2015:26082521}" "" "p.(Cys91fs*4)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000817447" "0" "70" "12" "0" "0" "" "0" "00000" "ALX1_000001" "g.?" "" "{PMID:Castro Sanchez 2015:26082521}" "" "p.(Glu337del)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000817448" "0" "70" "12" "76740773" "76740773" "subst" "0" "00000" "BBS10_000193" "g.76740773A>G" "" "{PMID:Castro Sanchez 2015:26082521}" "" "p.(Val331Ala)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000817449" "0" "70" "12" "0" "0" "" "0" "00000" "ALX1_000001" "g.?" "" "{PMID:Castro Sanchez 2015:26082521}" "" "p.(Leu533Leufs*21)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000817450" "3" "70" "12" "0" "0" "" "0" "00000" "ALX1_000001" "g.?" "" "{PMID:Castro Sanchez 2015:26082521}" "" "p.(Tyr559fs*17)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000817451" "3" "70" "12" "0" "0" "" "0" "00000" "ALX1_000001" "g.?" "" "{PMID:Castro Sanchez 2015:26082521}" "" "p.(Tyr559fs*17)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000817452" "0" "70" "12" "0" "0" "" "0" "00000" "ALX1_000001" "g.?" "" "{PMID:Castro Sanchez 2015:26082521}" "" "p.(Cys91fs*4)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000817453" "0" "70" "12" "0" "0" "" "0" "00000" "ALX1_000001" "g.?" "" "{PMID:Castro Sanchez 2015:26082521}" "" "p.(Tyr503fs*17)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000817454" "0" "70" "12" "0" "0" "" "0" "00000" "ALX1_000001" "g.?" "" "{PMID:Castro Sanchez 2015:26082521}" "" "p.(Cys91fs*4)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000817455" "0" "70" "12" "0" "0" "" "0" "00000" "ALX1_000001" "g.?" "" "{PMID:Castro Sanchez 2015:26082521}" "" "p.(Tyr503fs*17)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000817456" "0" "70" "12" "0" "0" "" "0" "00000" "ALX1_000001" "g.?" "" "{PMID:Castro Sanchez 2015:26082521}" "" "p.(Cys91fs*4)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000817457" "0" "70" "12" "76740524" "76740524" "subst" "0" "00000" "BBS10_000148" "g.76740524A>G" "" "{PMID:Castro Sanchez 2015:26082521}" "" "p.(Leu414Ser)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000817458" "3" "70" "12" "76740773" "76740773" "subst" "0" "00000" "BBS10_000193" "g.76740773A>G" "" "{PMID:Castro Sanchez 2015:26082521}" "" "p.(Val331Ala)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000817530" "3" "70" "12" "0" "0" "" "0" "00000" "ALX1_000001" "g.?" "" "{PMID:Knopp 2015:26003401}" "" "p.Tyr559*" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000817531" "3" "70" "12" "0" "0" "" "0" "00000" "ALX1_000001" "g.?" "" "{PMID:Knopp 2015:26003401}" "" "p.Tyr559*" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000817564" "0" "50" "12" "76741480" "76741480" "subst" "0" "00000" "BBS10_000201" "g.76741480T>G" "" "{PMID:Scheidecker 2015:25982971}" "" "p.R95S" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000817565" "0" "50" "12" "0" "0" "" "0" "00000" "ALX1_000001" "g.?" "" "{PMID:Scheidecker 2015:25982971}" "" "p.V707fs*" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000817568" "0" "50" "12" "76741994" "76741994" "subst" "4.90533E-5" "00000" "BBS10_000097" "g.76741994G>A" "" "{PMID:Scheidecker 2015:25982971}" "" "p.R49W" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000817569" "0" "50" "12" "76741349" "76741349" "subst" "0" "00000" "BBS10_000200" "g.76741349T>G" "" "{PMID:Scheidecker 2015:25982971}" "" "p.Q139P" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000817570" "0" "50" "12" "76741994" "76741994" "subst" "4.90533E-5" "00000" "BBS10_000097" "g.76741994G>A" "" "{PMID:Scheidecker 2015:25982971}" "" "p.R49W" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000817571" "0" "50" "12" "76741349" "76741349" "subst" "0" "00000" "BBS10_000200" "g.76741349T>G" "" "{PMID:Scheidecker 2015:25982971}" "" "p.Q139P" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000818184" "0" "90" "12" "76740088" "76740088" "subst" "4.07087E-5" "00000" "BBS10_000090" "g.76740088G>T" "" "{PMID:Wang 2016:27788217}" "" "c.1677C>A(p.Y559*)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000818193" "0" "90" "12" "76742124" "76742130" "delins" "0" "00000" "BBS10_000116" "g.76742124_76742130delinsGC" "" "{PMID:Wang 2016:27788217}" "" "c.9_15delinsGC(p.S3Rfs*91)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000818213" "0" "90" "12" "76739625" "76739628" "del" "0" "00000" "BBS10_000161" "g.76739625_76739628del" "" "{PMID:Esposito 2017:28143435}" "" "c.2137_2140del/c.962A>G (p.K713Ffs*16/p.Y321C)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000818214" "0" "90" "12" "76740803" "76740803" "subst" "0" "00000" "BBS10_000151" "g.76740803T>C" "" "{PMID:Esposito 2017:28143435}" "" "c.2137_2140del/c.962A>G (p.K713Ffs*16/p.Y321C)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000818216" "0" "90" "12" "76741530" "76741530" "dup" "8.48421E-6" "00000" "BBS10_000129" "g.76741530dup" "" "{PMID:Esposito 2017:28143435}" "" "c.235dupA/c.271dupT (T79Nfs*17/p.C91LfsX5)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000818217" "0" "90" "12" "76741494" "76741494" "dup" "0" "00000" "BBS10_000002" "g.76741494dup" "" "{PMID:Esposito 2017:28143435}" "" "c.235dupA/c.271dupT (T79Nfs*17/p.C91LfsX5)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000818218" "3" "90" "12" "76741256" "76741256" "subst" "8.17154E-6" "00000" "BBS10_000156" "g.76741256A>G" "" "{PMID:Esposito 2017:28143435}" "" "c.509T>C/c.509T>C (p.L170S)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000818219" "3" "90" "12" "76741124" "76741124" "subst" "0" "00000" "BBS10_000154" "g.76741124A>T" "" "{PMID:Esposito 2017:28143435}" "" "c.641T>A/c.641T>A (p.V214E)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000818633" "11" "90" "12" "76740702" "76740702" "subst" "0" "00000" "BBS10_000133" "g.76740702G>A" "" "{PMID:Tao 2020:32448990}" "" "c.1063C>T, p.Q355*" "Compound heterozygous" "Germline" "yes" "" "0" "" "" "g.76346922G>A" "" "pathogenic (recessive)" "ACMG" "0000818634" "11" "70" "12" "76741163" "76741163" "subst" "0" "00000" "BBS10_000204" "g.76741163C>T" "" "{PMID:Tao 2020:32448990}" "" "c.602G>A, p.C201Y" "Compound heterozygous" "Germline" "yes" "" "0" "" "" "g.76347383C>T" "" "likely pathogenic (recessive)" "ACMG" "0000818638" "21" "90" "12" "76741387" "76741387" "subst" "0" "00000" "BBS10_000134" "g.76741387C>T" "" "{PMID:Tao 2020:32448990}" "" "c.378G>A, p.W126*" "Compound heterozygous" "Germline" "yes" "" "0" "" "" "g.76347607C>T" "" "pathogenic (recessive)" "ACMG" "0000818639" "20" "70" "12" "76741226" "76741226" "subst" "0" "00000" "BBS10_000197" "g.76741226C>T" "" "{PMID:Tao 2020:32448990}" "" "c.539G>A, p.G180E" "Compound heterozygous" "Germline" "yes" "" "0" "" "" "g.76347446C>T" "" "likely pathogenic (recessive)" "ACMG" "0000818650" "3" "90" "12" "76741494" "76741494" "dup" "0" "00000" "BBS10_000002" "g.76741494dup" "" "{PMID:Ullah-2017:28761321}" "" "c.271_272insT" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000818651" "3" "90" "12" "76741494" "76741494" "dup" "0" "00000" "BBS10_000002" "g.76741494dup" "" "{PMID:Ullah-2017:28761321}" "" "c.271_272insT" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000819018" "1" "70" "12" "76740088" "76740088" "subst" "4.07087E-5" "00000" "BBS10_000090" "g.76740088G>T" "" "{PMID:Hirano 2020:32451492}" "" "BBS10 p.Y559X, p.Y658X" "no c. position written in publication, probable position given - c.1677C>A, RCV001075280.1, but also c.1677C>T is possible - RCV000409664.1" "Germline" "?" "" "0" "" "" "g.76346308G>T" "" "likely pathogenic" "" "0000819019" "1" "70" "12" "76742041" "76742041" "subst" "0" "00000" "BBS10_000205" "g.76742041C>T" "" "{PMID:Hirano 2020:32451492}" "" "BBS10 p.G33E, p.R709X" "no c. position written in publication, probable position given - c.98G>A" "Germline" "?" "" "0" "" "" "g.76348261C>T" "" "likely pathogenic" "" "0000819030" "2" "70" "12" "76739791" "76739791" "subst" "0" "00000" "BBS10_000203" "g.76739791A>C" "" "{PMID:Hirano 2020:32451492}" "" "BBS10 p.Y559X, p.Y658X" "no c. position written in publication, probable position given - c.1974T>G, but also c.1974T>A is possible" "Germline" "?" "" "0" "" "" "g.76346011A>C" "" "likely pathogenic" "" "0000819031" "2" "70" "12" "76739640" "76739640" "subst" "0" "00000" "BBS10_000202" "g.76739640T>A" "" "{PMID:Hirano 2020:32451492}" "" "BBS10 p.G33E, p.R709X" "no c. position written in publication, probable position given - c.2125A>T" "Germline" "?" "" "0" "" "" "g.76345860T>A" "" "likely pathogenic" "" "0000819327" "1" "70" "12" "76741496" "76741496" "dup" "0" "00000" "BBS10_000002" "g.76741496dup" "" "{PMID:Weisschuh 2020:32531858}" "" "BBS10, variant 1: c.271dup/p.C91Lfs*5, variant 2: c.271dup/p.C91Lfs*5" "solved, homozygous" "Unknown" "?" "" "0" "" "" "g.76347716dup" "" "likely pathogenic" "" "0000819333" "1" "70" "12" "76741496" "76741496" "dup" "0" "00000" "BBS10_000002" "g.76741496dup" "" "{PMID:Weisschuh 2020:32531858}" "" "BBS10, variant 1: c.271dup/p.C91Lfs*5, variant 2: c.271dup/p.C91Lfs*5" "solved, homozygous" "Unknown" "?" "" "0" "" "" "g.76347716dup" "" "likely pathogenic" "" "0000819334" "1" "70" "12" "76741496" "76741496" "dup" "0" "00000" "BBS10_000002" "g.76741496dup" "" "{PMID:Weisschuh 2020:32531858}" "" "BBS10, variant 1: c.271dup/p.C91Lfs*5, variant 2: c.271dup/p.C91Lfs*5" "solved, homozygous" "Germline" "yes" "" "0" "" "" "g.76347716dup" "" "likely pathogenic" "" "0000819399" "1" "70" "12" "76741496" "76741496" "dup" "0" "00000" "BBS10_000002" "g.76741496dup" "" "{PMID:Weisschuh 2020:32531858}" "" "BBS10, variant 1: c.271dup/p.C91Lfs*5, variant 2: c.271dup/p.C91Lfs*5" "solved, homozygous" "Unknown" "?" "" "0" "" "" "g.76347716dup" "" "likely pathogenic" "" "0000819403" "1" "70" "12" "76740834" "76740834" "subst" "0" "00000" "BBS10_000091" "g.76740834A>C" "" "{PMID:Weisschuh 2020:32531858}" "" "BBS10, variant 1: c.931T>G/p.S311A, variant 2: c.931T>G/p.S311A" "solved, homozygous" "Germline" "yes" "" "0" "" "" "g.76347054A>C" "" "likely pathogenic" "" "0000819405" "1" "70" "12" "76741496" "76741496" "dup" "0" "00000" "BBS10_000002" "g.76741496dup" "" "{PMID:Weisschuh 2020:32531858}" "" "BBS10, variant 1: c.271dup/p.C91Lfs*5, variant 2: c.271dup/p.C91Lfs*5" "solved, homozygous" "Unknown" "?" "" "0" "" "" "g.76347716dup" "" "likely pathogenic" "" "0000819412" "1" "70" "12" "76741187" "76741187" "subst" "0" "00000" "BBS10_000209" "g.76741187A>G" "" "{PMID:Weisschuh 2020:32531858}" "" "BBS10, variant 1: c.578T>C/p.L193S, variant 2: c.578T>C/p.L193S" "possibly solved, homozygous" "Germline" "yes" "" "0" "" "" "g.76347407A>G" "" "likely pathogenic" "" "0000819433" "1" "70" "12" "76740160" "76740163" "del" "0" "00000" "BBS10_000206" "g.76740160_76740163del" "" "{PMID:Weisschuh 2020:32531858}" "" "BBS10, variant 1: c.1603_1606del/p.D535Ifs*20, variant 2: c.1250C>T/p.A417V" "solved, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.76346380_76346383del" "" "likely pathogenic" "" "0000819591" "1" "70" "12" "76741994" "76741994" "subst" "4.90533E-5" "00000" "BBS10_000097" "g.76741994G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "BBS10, variant 1: c.145C>T/p.R49W, variant 2: c.145C>T/p.R49W" "solved, homozygous" "Unknown" "?" "" "0" "" "" "g.76348214G>A" "" "likely pathogenic" "" "0000820644" "1" "70" "12" "76740515" "76740515" "subst" "0" "00000" "BBS10_000191" "g.76740515G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "BBS10, variant 1: c.1603_1606del/p.D535Ifs*20, variant 2: c.1250C>T/p.A417V" "solved, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.76346735G>A" "" "likely pathogenic" "" "0000821163" "0" "90" "12" "76741496" "76741496" "dup" "0" "00000" "BBS10_000002" "g.76741496dup" "" "{PMID:Turro 2020:32581362}" "" "BBS10 c.271dupT, p.Cys91LeufsTer5" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.76347716dup" "" "pathogenic" "" "0000821526" "0" "70" "12" "76741175" "76741175" "subst" "8.13511E-6" "00000" "BBS10_000117" "g.76741175T>C" "" "{PMID:Turro 2020:32581362}" "" "BBS10 c.590A>G, p.Tyr197Cys" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.76347395T>C" "" "likely pathogenic" "" "0000822173" "0" "90" "12" "76740516" "76740516" "subst" "0" "00000" "BBS10_000208" "g.76740516C>T" "" "{PMID:Chandrasekar-2018:29806606}" "" "p.A417T" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000822174" "0" "90" "12" "76740427" "76740431" "del" "0" "00000" "BBS10_000207" "g.76740427_76740431del" "" "{PMID:Chandrasekar-2018:29806606}" "" "p.L445_L722delinsH" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000822759" "3" "50" "12" "76741994" "76741994" "subst" "4.90533E-5" "00000" "BBS10_000097" "g.76741994G>A" "" "{PMID:Gumus 2021:32686083}" "" "BBS10 (NM_024685) (LOVD#0000263557), c.145C > T, p.(Arg49Trp), Missense" "homozygous" "Germline" "yes" "" "0" "" "" "g.76348214G>A" "" "VUS" "" "0000825727" "0" "70" "12" "76740702" "76740702" "subst" "0" "00000" "BBS10_000133" "g.76740702G>A" "" "{PMID:Liu-2020:33090715}" "" "c.1063C>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000825728" "0" "70" "12" "76741387" "76741387" "subst" "0" "00000" "BBS10_000134" "g.76741387C>T" "" "{PMID:Liu-2020:33090715}" "" "c.378G>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000827110" "0" "90" "12" "76741994" "76741994" "subst" "4.90533E-5" "00000" "BBS10_000097" "g.76741994G>A" "" "{PMID:Jeziorny-2020:33138063}" "" "c.145C>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000827111" "0" "70" "12" "76741084" "76741085" "delins" "0" "00000" "BBS10_000210" "g.76741084_76741085delinsTT" "" "{PMID:Jeziorny-2020:33138063}" "" "c.680_681delGCinsAA" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000827117" "0" "90" "12" "76741994" "76741994" "subst" "4.90533E-5" "00000" "BBS10_000097" "g.76741994G>A" "" "{PMID:Jeziorny-2020:33138063}" "" "c.145C>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000827118" "0" "90" "12" "76741494" "76741494" "dup" "0" "00000" "BBS10_000002" "g.76741494dup" "" "{PMID:Jeziorny-2020:33138063}" "" "c.271dupT" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000827127" "0" "30" "12" "76741341" "76741341" "subst" "0.00733554" "00000" "BBS10_000071" "g.76741341C>T" "" "{PMID:Jeziorny-2020:33138063}" "" "c.424G>A" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000827846" "0" "90" "12" "76741492" "76741493" "ins" "0" "00000" "BBS10_000094" "g.76741492_76741493insA" "" "{PMID:Zacchia 2021:33964006}" "" "BBS10 c.272_273insT, p.C91Lfs*5" "error in annotation, c.272_273insT causes p.(His92Profs*4) and not p.(Cys91Leufs*5), homozygous; solved" "Unknown" "?" "" "0" "" "" "g.76347712_76347713insA" "" "pathogenic" "ACMG" "0000827850" "0" "50" "12" "76741124" "76741124" "subst" "0" "00000" "BBS10_000154" "g.76741124A>T" "" "{PMID:Zacchia 2021:33964006}" "" "BBS10 c.641T>A, p.V214E" "homozygous; solved" "Unknown" "?" "" "0" "" "" "g.76347344A>T" "" "VUS" "ACMG" "0000827856" "0" "90" "12" "76741234" "76741234" "subst" "0" "00000" "BBS10_000211" "g.76741234G>T" "" "{PMID:Zacchia 2021:33964006}" "" "BBS10 c.531C>A, p.Y177X" "heterozygous; solved" "Unknown" "?" "" "0" "" "" "g.76347454G>T" "" "pathogenic" "ACMG" "0000827899" "0" "90" "12" "76741492" "76741492" "subst" "3.28688E-5" "00000" "BBS10_000113" "g.76741492G>C" "" "{PMID:Zacchia 2021:33964006}" "" "BBS10 c.273C>G, p.C91W" "heterozygous; unsolved" "Unknown" "?" "" "0" "" "" "g.76347712G>C" "" "pathogenic" "ACMG" "0000830048" "1" "90" "12" "76741567" "76741567" "subst" "0" "00000" "BBS10_000214" "g.76741567C>A" "" "{PMID:Mary-2019:30614526}" "" "c.[198G>T];[198G>T]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000830049" "2" "90" "12" "76741567" "76741567" "subst" "0" "00000" "BBS10_000214" "g.76741567C>A" "" "{PMID:Mary-2019:30614526}" "" "c.[198G>T];[198G>T]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000830050" "1" "90" "12" "76741494" "76741494" "dup" "0" "00000" "BBS10_000002" "g.76741494dup" "" "{PMID:Mary-2019:30614526}" "" "c.[271dup];[271dup]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000830051" "2" "90" "12" "76741494" "76741494" "dup" "0" "00000" "BBS10_000002" "g.76741494dup" "" "{PMID:Mary-2019:30614526}" "" "c.[271dup];[271dup]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000830052" "1" "90" "12" "76741204" "76741206" "del" "4.07422E-6" "00000" "BBS10_000213" "g.76741204_76741206del" "" "{PMID:Mary-2019:30614526}" "" "c.[559_561del];[559_561del]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000830053" "2" "90" "12" "76741204" "76741206" "del" "4.07422E-6" "00000" "BBS10_000213" "g.76741204_76741206del" "" "{PMID:Mary-2019:30614526}" "" "c.[559_561del];[559_561del]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000830054" "1" "90" "12" "76740720" "76740721" "del" "0" "00000" "BBS10_000149" "g.76740720_76740721del" "" "{PMID:Mary-2019:30614526}" "" "c.[1044_1045del];[273C>G]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000830055" "2" "90" "12" "76741492" "76741492" "subst" "3.28688E-5" "00000" "BBS10_000113" "g.76741492G>C" "" "{PMID:Mary-2019:30614526}" "" "c.[1044_1045del];[273C>G]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000830056" "1" "90" "12" "76741494" "76741494" "dup" "0" "00000" "BBS10_000002" "g.76741494dup" "" "{PMID:Mary-2019:30614526}" "" "c.[271dup];[728_731del]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000830057" "2" "90" "12" "76741034" "76741037" "del" "4.0797E-6" "00000" "BBS10_000126" "g.76741034_76741037del" "" "{PMID:Mary-2019:30614526}" "" "c.[271dup];[728_731del]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000830058" "1" "90" "12" "76741041" "76741041" "del" "0" "00000" "BBS10_000152" "g.76741041del" "" "{PMID:Mary-2019:30614526}" "" "c.[724del];[724del]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000830059" "2" "90" "12" "76741041" "76741041" "del" "0" "00000" "BBS10_000152" "g.76741041del" "" "{PMID:Mary-2019:30614526}" "" "c.[724del];[724del]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000830060" "1" "90" "12" "76741235" "76741235" "subst" "0" "00000" "BBS10_000131" "g.76741235T>C" "" "{PMID:Mary-2019:30614526}" "" "c.[530A>G];[530A>G]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000830061" "2" "90" "12" "76741235" "76741235" "subst" "0" "00000" "BBS10_000131" "g.76741235T>C" "" "{PMID:Mary-2019:30614526}" "" "c.[530A>G];[530A>G]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000830062" "1" "90" "12" "76740622" "76740622" "subst" "4.066E-6" "00000" "BBS10_000212" "g.76740622A>C" "" "{PMID:Mary-2019:30614526}" "" "c.[1143T>G];[1091del]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000830063" "2" "90" "12" "76740674" "76740674" "del" "6.51949E-5" "00000" "BBS10_000115" "g.76740674del" "" "{PMID:Mary-2019:30614526}" "" "c.[1143T>G];[1091del]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000830064" "1" "90" "12" "76741204" "76741206" "del" "4.07422E-6" "00000" "BBS10_000213" "g.76741204_76741206del" "" "{PMID:Mary-2019:30614526}" "" "c.[559_561del];[559_561del]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000830065" "2" "90" "12" "76741204" "76741206" "del" "4.07422E-6" "00000" "BBS10_000213" "g.76741204_76741206del" "" "{PMID:Mary-2019:30614526}" "" "c.[559_561del];[559_561del]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000841600" "3" "70" "12" "76740915" "76740915" "subst" "8.18525E-6" "00006" "BBS10_000196" "g.76740915G>A" "" "{PMID:Alvarez-Satta 2017:28502102}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000853526" "0" "30" "12" "76740982" "76740982" "subst" "2.0517E-5" "02330" "BBS10_000216" "g.76740982T>C" "" "" "" "BBS10(NM_024685.4):c.783A>G (p.T261=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863134" "0" "30" "12" "76739974" "76739974" "subst" "0" "01804" "BBS10_000215" "g.76739974A>T" "" "" "" "BBS10(NM_024685.3):c.1791T>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863135" "0" "50" "12" "76742038" "76742038" "subst" "0" "01943" "BBS10_000217" "g.76742038C>G" "" "" "" "BBS10(NM_024685.4):c.101G>C (p.R34P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000871289" "0" "70" "11" "76741496" "76741496" "dup" "0" "00000" "BBS10_000001" "g.76741496dup" "" "{PMID:Delvallee 2021:33169370}" "" "BBS10 c.271dupT, p.(Cys91Leufs*5)" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.76347716dup" "" "pathogenic (recessive)" "" "0000871290" "0" "70" "11" "76741994" "76741994" "subst" "0" "00000" "BBS10_000097" "g.76741994G>A" "" "{PMID:Delvallee 2021:33169370}" "" "BBS10 c.145C>T, p.(Arg49Trp)" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.76348214G>A" "" "pathogenic (recessive)" "" "0000871291" "0" "70" "11" "76741496" "76741496" "dup" "0" "00000" "BBS10_000001" "g.76741496dup" "" "{PMID:Delvallee 2021:33169370}" "" "BBS10 c.271dupT, p.(Cys91Leufs*5)" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.76347716dup" "" "pathogenic (recessive)" "" "0000871292" "0" "70" "11" "76741994" "76741994" "subst" "0" "00000" "BBS10_000097" "g.76741994G>A" "" "{PMID:Delvallee 2021:33169370}" "" "BBS10 c.145C>T, p.(Arg49Trp)" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.76348214G>A" "" "pathogenic (recessive)" "" "0000878672" "3" "70" "12" "76740029" "76740029" "subst" "0.000343283" "00000" "BBS10_000075" "g.76740029T>C" "" "{PMID:Aldahmesh 2014:24488770}" "" "BBS10 c.1736A>G, p.(Lys579Arg)" "homozygous" "Germline" "?" "" "0" "" "" "g.76346249T>C" "" "likely pathogenic" "" "0000878673" "3" "70" "12" "76740029" "76740029" "subst" "0.000343283" "00000" "BBS10_000075" "g.76740029T>C" "" "{PMID:Aldahmesh 2014:24488770}" "" "BBS10 c.1736A>G, p.(Lys579Arg)" "homozygous" "Germline" "?" "" "0" "" "" "g.76346249T>C" "" "likely pathogenic" "" "0000879052" "3" "70" "12" "76741037" "76741040" "del" "0" "00000" "BBS10_000126" "g.76741037_76741040del" "" "{PMID:White 2007:17106446}" "" "BBS10 c.995_999delAAGA, p.Q242fs258X" "errors in annotation, obsolete nucleotide 995, 728 in NM_024685.3, first affected amino acid is K243; homozygous" "Germline" "yes" "" "0" "" "" "g.76347257_76347260del" "" "likely pathogenic" "" "0000879053" "3" "70" "12" "76741037" "76741040" "del" "0" "00000" "BBS10_000126" "g.76741037_76741040del" "" "{PMID:White 2007:17106446}" "" "BBS10 c.995_999delAAGA, p.Q242fs258X" "errors in annotation, obsolete nucleotide 995, 728 in NM_024685.3, first affected amino acid is K243; homozygous" "Germline" "yes" "" "0" "" "" "g.76347257_76347260del" "" "likely pathogenic" "" "0000879054" "3" "70" "12" "76741037" "76741040" "del" "0" "00000" "BBS10_000126" "g.76741037_76741040del" "" "{PMID:White 2007:17106446}" "" "BBS10 c.995_999delAAGA, p.Q242fs258X" "errors in annotation, obsolete nucleotide 995, 728 in NM_024685.3, first affected amino acid is K243; homozygous" "Germline" "yes" "" "0" "" "" "g.76347257_76347260del" "" "likely pathogenic" "" "0000879055" "3" "70" "12" "76741037" "76741040" "del" "0" "00000" "BBS10_000126" "g.76741037_76741040del" "" "{PMID:White 2007:17106446}" "" "BBS10 c.995_999delAAGA, p.Q242fs258X" "errors in annotation, obsolete nucleotide 995, 728 in NM_024685.3, first affected amino acid is K243; homozygous" "Germline" "yes" "" "0" "" "" "g.76347257_76347260del" "" "likely pathogenic" "" "0000879056" "3" "70" "12" "76741496" "76741496" "dup" "0" "00000" "BBS10_000002" "g.76741496dup" "" "{PMID:Putoux 2010:20805367}" "" "BBS10 c.271dupT, p.Cys91LeufsX5" "homozygous" "Germline" "yes" "" "0" "" "" "g.76347716dup" "" "likely pathogenic" "" "0000879057" "3" "70" "12" "76741496" "76741496" "dup" "0" "00000" "BBS10_000002" "g.76741496dup" "" "{PMID:Putoux 2010:20805367}" "" "BBS10 c.271dupT, p.Cys91LeufsX5" "homozygous" "Germline" "yes" "" "0" "" "" "g.76347716dup" "" "likely pathogenic" "" "0000879058" "21" "70" "12" "76741496" "76741496" "dup" "0" "00000" "BBS10_000002" "g.76741496dup" "" "{PMID:Putoux 2010:20805367}" "" "BBS10 c.271dupT, p.Cys91LeufsX5" "heterozygous" "Germline" "yes" "" "0" "" "" "g.76347716dup" "" "likely pathogenic" "" "0000879059" "21" "70" "12" "76741492" "76741492" "subst" "3.28688E-5" "00000" "BBS10_000113" "g.76741492G>C" "" "{PMID:Putoux 2010:20805367}" "" "BBS10 c.273C>G, p.Cys91Trp" "heterozygous" "Germline" "yes" "" "0" "" "" "g.76347712G>C" "" "likely pathogenic" "" "0000879060" "21" "70" "12" "76741954" "76741954" "subst" "4.11773E-6" "00000" "BBS10_000221" "g.76741954T>C" "" "{PMID:Putoux 2010:20805367}" "" "BBS10 c.185A>G, p.His62Arg" "heterozygous" "Germline" "yes" "" "0" "" "" "g.76348174T>C" "" "likely pathogenic" "" "0000879062" "11" "70" "12" "76740721" "76740722" "del" "0" "00000" "BBS10_000219" "g.76740721_76740722del" "" "{PMID:Putoux 2010:20805367}" "" "BBS10 c.1044-1045delTT , p.Pro350IlefsX11" "heterozygous" "Germline" "yes" "" "0" "" "" "g.76346941_76346942del" "" "likely pathogenic" "" "0000879063" "11" "70" "12" "76740721" "76740722" "del" "0" "00000" "BBS10_000219" "g.76740721_76740722del" "" "{PMID:Putoux 2010:20805367}" "" "BBS10 c.1044-1045delTT , p.Pro350IlefsX12" "heterozygous" "Germline" "yes" "" "0" "" "" "g.76346941_76346942del" "" "likely pathogenic" "" "0000879064" "11" "70" "12" "76741496" "76741496" "dup" "0" "00000" "BBS10_000002" "g.76741496dup" "" "{PMID:Putoux 2010:20805367}" "" "BBS10 c.271dupT, p.Cys91LeufsX5" "heterozygous" "Germline" "yes" "" "0" "" "" "g.76347716dup" "" "likely pathogenic" "" "0000879067" "3" "70" "12" "76739801" "76739810" "del" "0" "00000" "BBS10_000089" "g.76739801_76739810del" "" "{PMID:Agha 2013:23403234}" "" "BBS10 c.1958_1967del, p.(Ser653Ilefs*4)" "homozygous" "Germline" "yes" "" "0" "" "" "g.76346021_76346030del" "" "likely pathogenic" "" "0000879068" "3" "70" "12" "76739801" "76739810" "del" "0" "00000" "BBS10_000089" "g.76739801_76739810del" "" "{PMID:Agha 2013:23403234}" "" "BBS10 c.1958_1967del, p.(Ser653Ilefs*4)" "homozygous" "Germline" "yes" "" "0" "" "" "g.76346021_76346030del" "" "likely pathogenic" "" "0000879069" "3" "70" "12" "76741037" "76741040" "del" "0" "00000" "BBS10_000126" "g.76741037_76741040del" "50/74 BBS families (67%) homozygous, 2 heterozygous" "{PMID:Fieggen 2016:27245532}" "" "BBS10 K243IfsX15" "50 families with homozygous variant, 2 heterozygous; no nucleotide annotation, extrapolated from protein and databases; founder mutation; homozygous" "Germline" "yes" "" "0" "" "" "g.76347257_76347260del" "" "likely pathogenic" "" "0000879070" "21" "70" "12" "76740088" "76740088" "subst" "4.07087E-5" "00000" "BBS10_000090" "g.76740088G>T" "" "{PMID:Ohto 2017:28808579}" "" "BBS10 c.1677C>A, p.(Tyr559*)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.76346308G>T" "" "likely pathogenic" "" "0000879071" "11" "70" "12" "76739791" "76739791" "subst" "0" "00000" "BBS10_000203" "g.76739791A>C" "" "{PMID:Ohto 2017:28808579}" "" "BBS10 c.1974T>G, p.(Tyr658*)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.76346011A>C" "" "likely pathogenic" "" "0000879072" "21" "90" "12" "76742041" "76742041" "subst" "0" "00000" "BBS10_000205" "g.76742041C>T" "" "{PMID:Kurata 2018:29666954}" "" "BBS10 c.98G>A, p.(G33E)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.76348261C>T" "" "pathogenic" "" "0000879073" "0" "90" "12" "76739640" "76739640" "subst" "0" "00000" "BBS10_000202" "g.76739640T>A" "" "{PMID:Kurata 2018:29666954}" "" "BBS10 c.2125A>T, p.(R709*)" "paternity confirmed; allele not inherited from the father (de novo); heterozygous" "De novo" "yes" "" "0" "" "" "g.76345860T>A" "" "pathogenic" "" "0000879074" "3" "90" "12" "76741496" "76741496" "dup" "0" "00000" "BBS10_000002" "g.76741496dup" "" "{PMID:Brunbjerg-Hey 2018:30312873}" "" "BBS10 c.271insT, p.(Cys91fsX95)" "homozygous" "In vitro (cloned)" "?" "" "0" "" "" "g.76347716dup" "" "pathogenic" "" "0000879077" "3" "70" "12" "76742095" "76742102" "del" "0" "00000" "BBS10_000222" "g.76742095_76742102del" "" "{PMID:Ladino 2018:30335236}" "" "BBS10 c.39_46delGGCGTTGC" "homozygous" "Germline" "yes" "" "0" "" "" "g.76348315_76348322del" "" "likely pathogenic" "" "0000879079" "0" "70" "12" "76741496" "76741496" "dup" "0" "00000" "BBS10_000002" "g.76741496dup" "" "{PMID:Paolacci 2019:30767287}" "" "BBS10 c.271dupT, p.(Cys91Leufs*5)" "father\'s DNA unavaiable; heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.76347716dup" "" "likely pathogenic" "" "0000879080" "21" "70" "12" "76741994" "76741994" "subst" "4.90533E-5" "00000" "BBS10_000097" "g.76741994G>A" "" "{PMID:Paolacci 2019:30767287}" "" "BBS10 c.145C>T, p.(Arg49Trp)" "heterozygous" "Germline" "?" "" "0" "" "" "g.76348214G>A" "" "likely pathogenic" "" "0000879081" "1" "70" "12" "76740776" "76740776" "subst" "0" "00000" "BBS10_000220" "g.76740776A>G" "" "{PMID:Barrell 2019:31293383}" "" "BBS10 c.989T>C, p.Val330Ala" "heterozygous" "In vitro (cloned)" "?" "" "0" "" "" "g.76346996A>G" "" "likely pathogenic" "" "0000879082" "2" "70" "12" "76741536" "76741536" "dup" "0" "00000" "BBS10_000129" "g.76741536dup" "" "{PMID:Barrell 2019:31293383}" "" "BBS10 c.235dup, p.Thr79Asnfs*17" "heterozygous" "In vitro (cloned)" "?" "" "0" "" "" "g.76347756dup" "" "likely pathogenic" "" "0000879083" "1" "70" "12" "76741480" "76741480" "subst" "0" "00000" "BBS10_000182" "g.76741480T>A" "" "{PMID:Barrell 2019:31293383}" "" "BBS10 c.285A>T, p.Arg95Ser" "heterozygous" "In vitro (cloned)" "?" "" "0" "" "" "g.76347700T>A" "" "likely pathogenic" "" "0000879084" "2" "70" "12" "76739646" "76739647" "del" "0" "00000" "BBS10_000099" "g.76739646_76739647del" "" "{PMID:Barrell 2019:31293383}" "" "BBS10 c.2119_2120del, p.Val707*" "heterozygous" "In vitro (cloned)" "?" "" "0" "" "" "g.76345866_76345867del" "" "likely pathogenic" "" "0000879772" "11" "50" "12" "76740353" "76740353" "subst" "0.000166573" "00000" "BBS10_000218" "g.76740353T>A" "" "{PMID:Li 2014:25533820}" "" "BBS10 c.1412A>T, p.D471V" "heterozygous; heterozygous proband\'s father also reported a surgical history of polydactyly removal, but her brother, carrying the same alleles appeared completel" "Germline" "?" "rs200718870" "0" "" "" "g.76346573T>A" "" "VUS" "" "0000882636" "3" "90" "12" "76741496" "76741496" "dup" "0" "00000" "BBS10_000002" "g.76741496dup" "" "{PMID:Barabino 2020:32160518}" "" "BBS10 c.271dup, p.(Cys91Leufs*5)" "homozygous" "In vitro (cloned)" "?" "" "0" "" "" "g.76347716dup" "" "pathogenic" "" "0000882637" "1" "90" "12" "76740855" "76740858" "del" "0" "00000" "BBS10_000012" "g.76740855_76740858del" "" "{PMID:Barabino 2020:32160518}" "" "BBS10 c.909_912del, p.(Ser303Argfs*3)" "heterozygous" "In vitro (cloned)" "?" "" "0" "" "" "g.76347075_76347078del" "" "pathogenic" "" "0000882638" "2" "90" "12" "76741078" "76741078" "del" "1.62697E-5" "00000" "BBS10_000224" "g.76741078del" "" "{PMID:Barabino 2020:32160518}" "" "BBS10 c.687del, p.(Val230Phefs*7)" "heterozygous" "In vitro (cloned)" "?" "" "0" "" "" "g.76347298del" "" "pathogenic" "" "0000882639" "1" "90" "8" "94768015" "94768015" "subst" "0" "00000" "TMEM67_000217" "g.94768015G>A" "" "{PMID:Barabino 2020:32160518}" "" "TMEM67 c.233G>A, p.(Cys78Tyr)" "heterozygous" "In vitro (cloned)" "?" "" "0" "" "" "g.93755787G>A" "" "pathogenic" "" "0000882640" "2" "90" "8" "94793953" "94793953" "subst" "2.04268E-5" "00000" "TMEM67_000014" "g.94793953T>C" "" "{PMID:Barabino 2020:32160518}" "" "TMEM67 c.1046T>C, p.(Leu349Ser)" "heterozygous" "In vitro (cloned)" "?" "" "0" "" "" "g.93781725T>C" "" "pathogenic" "" "0000890792" "0" "30" "12" "76740220" "76740220" "subst" "0.00264888" "02326" "BBS10_000223" "g.76740220A>G" "" "" "" "BBS10(NM_024685.4):c.1545T>C (p.D515=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890793" "0" "30" "12" "76740353" "76740353" "subst" "0.000166573" "02326" "BBS10_000218" "g.76740353T>A" "" "" "" "BBS10(NM_024685.4):c.1412A>T (p.D471V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890794" "0" "30" "12" "76740607" "76740607" "subst" "0.000918811" "02330" "BBS10_000082" "g.76740607C>T" "" "" "" "BBS10(NM_024685.4):c.1158G>A (p.L386=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890795" "0" "50" "12" "76741260" "76741260" "subst" "0" "02327" "BBS10_000107" "g.76741260A>G" "" "" "" "BBS10(NM_024685.4):c.505T>C (p.S169P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000897036" "3" "70" "12" "0" "0" "" "0" "00000" "ALX1_000001" "g.?" "" "{PMID:Kaur 2021:33509858}" "" "BBS10 single-base pair duplication in exon 2, led to premature truncation of protein downstream of codon 91" "no real mutation annotation, most probably a known c.271dup, p.(Cys91Leufs*5) variant; homozygous" "Germline" "yes" "" "0" "" "" "g.?" "" "likely pathogenic" "" "0000925701" "0" "30" "12" "76740799" "76740799" "subst" "0.00124128" "02326" "BBS10_000083" "g.76740799A>G" "" "" "" "BBS10(NM_024685.4):c.966T>C (p.Y322=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000925702" "0" "30" "12" "76741393" "76741393" "subst" "0.000146726" "02326" "BBS10_000093" "g.76741393A>T" "" "" "" "BBS10(NM_024685.4):c.372T>A (p.S124=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930148" "0" "90" "12" "76741994" "76741994" "subst" "4.90533E-5" "02327" "BBS10_000097" "g.76741994G>A" "" "" "" "BBS10(NM_024685.4):c.145C>T (p.R49W, p.(Arg49Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000958088" "3" "70" "12" "76741994" "76741994" "subst" "4.90533E-5" "00006" "BBS10_000097" "g.76741994G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PP5_STRONG" "Germline" "" "" "0" "" "" "g.76348214G>A" "225010" "likely pathogenic (recessive)" "ACMG" "0000958861" "0" "90" "12" "76741496" "76741496" "dup" "0" "00006" "BBS10_000002" "g.76741496dup" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1_STRONG, PP5, PS4" "Germline" "" "" "0" "" "" "g.76347716dup" "" "pathogenic (recessive)" "ACMG" "0000958876" "3" "50" "12" "76739963" "76739963" "subst" "0" "00006" "BBS10_000098" "g.76739963G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PM1_SUPPORTING" "Germline" "" "" "0" "" "" "g.76346183G>A" "" "VUS" "ACMG" "0000959239" "0" "90" "12" "76741496" "76741496" "dup" "0" "00006" "BBS10_000002" "g.76741496dup" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1_STRONG, PP5, PS4" "Germline" "" "" "0" "" "" "g.76347716dup" "" "pathogenic (recessive)" "ACMG" "0000959300" "0" "50" "12" "76740755" "76740757" "del" "0" "00006" "BBS10_000192" "g.76740755_76740757del" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PM4, PM1_SUPPORTING" "Germline" "" "" "0" "" "" "g.76346975_76346977del" "" "VUS" "ACMG" "0000967086" "0" "90" "12" "76741994" "76741994" "subst" "4.90533E-5" "02326" "BBS10_000097" "g.76741994G>A" "" "" "" "BBS10(NM_024685.4):c.145C>T (p.R49W, p.(Arg49Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000980469" "0" "50" "12" "76741496" "76741496" "dup" "0" "01804" "BBS10_000002" "g.76741496dup" "" "" "" "BBS10(NM_024685.4):c.271dup (p.(Cys91LeufsTer5)), BBS10(NM_024685.4):c.271dupT (p.C91Lfs*5)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001000332" "0" "90" "12" "76741994" "76741994" "subst" "4.90533E-5" "02329" "BBS10_000097" "g.76741994G>A" "" "" "" "BBS10(NM_024685.4):c.145C>T (p.R49W, p.(Arg49Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001027557" "1" "70" "12" "76740524" "76740524" "subst" "0" "00006" "BBS10_000148" "g.76740524A>G" "" "{PMID:Boissel 2017:29261186}" "" "" "" "Germline" "" "" "0" "" "" "g.76346744A>G" "" "likely pathogenic (recessive)" "" "0001027575" "2" "90" "12" "76740855" "76740858" "del" "0" "00006" "BBS10_000012" "g.76740855_76740858del" "" "{PMID:Boissel 2017:29261186}" "" "" "" "Germline" "" "" "0" "" "" "g.76347075_76347078del" "" "pathogenic (recessive)" "" "0001039465" "0" "90" "12" "76739927" "76739927" "subst" "2.47498E-5" "01804" "BBS10_000073" "g.76739927T>C" "" "" "" "BBS10(NM_024685.4):c.1838A>G (p.(Tyr613Cys), p.Y613C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001039466" "0" "90" "12" "76741994" "76741994" "subst" "4.90533E-5" "01804" "BBS10_000097" "g.76741994G>A" "" "" "" "BBS10(NM_024685.4):c.145C>T (p.R49W, p.(Arg49Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" ## 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 BBS10 ## Count = 517 "{{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}}" "0000046800" "00003294" "90" "1189" "0" "1189" "0" "c.1189A>G" "r.(?)" "p.(Ile397Val)" "2" "0000061100" "00003294" "90" "909" "0" "912" "0" "c.909_912del" "r.(?)" "p.(Ser303Argfs*3)" "2" "0000061101" "00003294" "90" "2030" "0" "2030" "0" "c.2030G>T" "r.(?)" "p.(Gly677Val)" "2" "0000061110" "00003294" "90" "815" "0" "822" "0" "c.815_822dup" "r.(?)" "p.(Phe275Aspfs*6)" "2" "0000094352" "00003294" "70" "424" "0" "424" "0" "c.424G>A" "r.(?)" "p.(Asp142Asn)" "2" "0000154074" "00003294" "90" "271" "0" "271" "0" "c.271dup" "r.(?)" "p.(Cys91Leufs*5)" "2" "0000247119" "00003294" "10" "372" "0" "372" "0" "c.372T>A" "r.(?)" "p.(Ser124=)" "" "0000250824" "00003294" "90" "164" "0" "164" "0" "c.164T>C" "r.(?)" "p.(Leu55Pro)" "" "0000255346" "00003294" "70" "164" "0" "164" "0" "c.164T>C" "r.(?)" "p.(Leu55Pro)" "" "0000258589" "00003294" "10" "1437" "0" "1437" "0" "c.1437A>G" "r.(?)" "p.(Ala479=)" "" "0000258592" "00003294" "10" "462" "0" "462" "0" "c.462G>A" "r.(?)" "p.(Leu154=)" "" "0000258593" "00003294" "10" "765" "0" "765" "0" "c.765G>A" "r.(?)" "p.(Met255Ile)" "" "0000259227" "00003294" "10" "1616" "0" "1616" "0" "c.1616C>T" "r.(?)" "p.(Pro539Leu)" "" "0000261389" "00003294" "10" "1669" "0" "1669" "0" "c.1669A>G" "r.(?)" "p.(Ile557Val)" "" "0000261390" "00003294" "10" "1677" "0" "1677" "0" "c.1677C>T" "r.(?)" "p.(Tyr559=)" "" "0000261391" "00003294" "90" "1838" "0" "1838" "0" "c.1838A>G" "r.(?)" "p.(Tyr613Cys)" "" "0000261392" "00003294" "30" "198" "-3" "198" "-3" "c.198-3C>T" "r.spl?" "p.?" "" "0000261394" "00003294" "10" "424" "0" "424" "0" "c.424G>A" "r.(?)" "p.(Asp142Asn)" "" "0000261395" "00003294" "30" "765" "0" "765" "0" "c.765G>A" "r.(?)" "p.(Met255Ile)" "" "0000261396" "00003294" "90" "766" "0" "766" "0" "c.766C>T" "r.(?)" "p.(Arg256Ter)" "" "0000261397" "00003294" "30" "886" "0" "886" "0" "c.886G>A" "r.(?)" "p.(Ala296Thr)" "" "0000263555" "00003294" "30" "1158" "0" "1158" "0" "c.1158G>A" "r.(?)" "p.(Leu386=)" "" "0000263556" "00003294" "50" "1403" "0" "1403" "0" "c.1403C>T" "r.(?)" "p.(Pro468Leu)" "" "0000263557" "00003294" "90" "145" "0" "145" "0" "c.145C>T" "r.(?)" "p.(Arg49Trp)" "" "0000263558" "00003294" "50" "1736" "0" "1736" "0" "c.1736A>G" "r.(?)" "p.(Lys579Arg)" "" "0000263560" "00003294" "30" "765" "0" "765" "0" "c.765G>A" "r.(?)" "p.(Met255Ile)" "" "0000263561" "00003294" "90" "959" "0" "962" "0" "c.959_962del" "r.(?)" "p.(Ser320IlefsTer5)" "" "0000322994" "00003294" "30" "1822" "0" "1822" "0" "c.1822A>G" "r.(?)" "p.(Ile608Val)" "" "0000322995" "00003294" "30" "1265" "0" "1265" "0" "c.1265G>A" "r.(?)" "p.(Arg422Gln)" "" "0000343912" "00003294" "10" "424" "0" "424" "0" "c.424G>A" "r.(?)" "p.(Asp142Asn)" "" "0000344472" "00003294" "90" "271" "0" "271" "0" "c.271dup" "r.(?)" "p.(Cys91LeufsTer5)" "" "0000348498" "00003294" "10" "1616" "0" "1616" "0" "c.1616C>T" "r.(?)" "p.(Pro539Leu)" "" "0000348928" "00003294" "90" "931" "0" "931" "0" "c.931T>G" "r.(?)" "p.(Ser311Ala)" "" "0000350138" "00003294" "90" "1677" "0" "1677" "0" "c.1677C>A" "r.(?)" "p.(Tyr559Ter)" "" "0000350151" "00003294" "90" "1838" "0" "1838" "0" "c.1838A>G" "r.(?)" "p.(Tyr613Cys)" "" "0000472272" "00003294" "50" "1802" "0" "1802" "0" "c.1802C>T" "r.(?)" "p.(Pro601Leu)" "" "0000549145" "00003294" "70" "2119" "0" "2120" "0" "c.2119_2120del" "r.(?)" "p.(Val707Ter)" "" "0000549147" "00003294" "90" "1677" "0" "1677" "0" "c.1677C>A" "r.(?)" "p.(Tyr559Ter)" "" "0000549148" "00003294" "30" "1669" "0" "1669" "0" "c.1669A>G" "r.(?)" "p.(Ile557Val)" "" "0000549149" "00003294" "50" "1631" "0" "1631" "0" "c.1631A>G" "r.(?)" "p.(Asn544Ser)" "" "0000549150" "00003294" "30" "1631" "0" "1631" "0" "c.1631A>G" "r.(?)" "p.(Asn544Ser)" "" "0000549151" "00003294" "10" "1631" "0" "1631" "0" "c.1631A>G" "r.(?)" "p.(Asn544Ser)" "" "0000549153" "00003294" "10" "1616" "0" "1616" "0" "c.1616C>T" "r.(?)" "p.(Pro539Leu)" "" "0000549154" "00003294" "10" "1548" "0" "1548" "0" "c.1548A>T" "r.(?)" "p.(Thr516=)" "" "0000549156" "00003294" "50" "1183" "0" "1183" "0" "c.1183C>G" "r.(?)" "p.(His395Asp)" "" "0000549157" "00003294" "10" "957" "0" "957" "0" "c.957T>C" "r.(?)" "p.(Val319=)" "" "0000549158" "00003294" "50" "955" "0" "955" "0" "c.955G>C" "r.(?)" "p.(Val319Leu)" "" "0000549160" "00003294" "50" "765" "0" "765" "0" "c.765G>A" "r.(?)" "p.(Met255Ile)" "" "0000549162" "00003294" "90" "488" "0" "489" "0" "c.488_489del" "r.(?)" "p.(Arg163AsnfsTer4)" "" "0000549164" "00003294" "90" "271" "0" "271" "0" "c.271dup" "r.(?)" "p.(Cys91LeufsTer5)" "" "0000549165" "00003294" "90" "271" "0" "271" "0" "c.271dup" "r.(?)" "p.(Cys91LeufsTer5)" "" "0000549166" "00003294" "90" "271" "0" "271" "0" "c.271dup" "r.(?)" "p.(Cys91LeufsTer5)" "" "0000549167" "00003294" "90" "271" "0" "271" "0" "c.271dup" "r.(?)" "p.(Cys91LeufsTer5)" "" "0000549168" "00003294" "50" "124" "0" "124" "0" "c.124A>T" "r.(?)" "p.(Thr42Ser)" "" "0000614381" "00003294" "90" "164" "0" "164" "0" "c.164T>C" "r.(?)" "p.(Leu55Pro)" "" "0000622973" "00003294" "10" "966" "0" "966" "0" "c.966T>C" "r.(?)" "p.(Tyr322=)" "" "0000648653" "00003294" "30" "424" "0" "424" "0" "c.424G>A" "r.(?)" "p.(Asp142Asn)" "" "0000653301" "00003294" "90" "272" "0" "272" "0" "c.272dup" "r.(?)" "p.(Cys91Trpfs*5)" "" "0000657198" "00003294" "90" "1407" "0" "1407" "0" "c.1407T>G" "r.(?)" "p.(Tyr469Ter)" "" "0000657199" "00003294" "30" "1333" "0" "1333" "0" "c.1333C>A" "r.(?)" "p.(Leu445Ile)" "" "0000657200" "00003294" "30" "505" "0" "505" "0" "c.505T>C" "r.(?)" "p.(Ser169Pro)" "" "0000657201" "00003294" "70" "273" "0" "273" "0" "c.273C>G" "r.(?)" "p.(Cys91Trp)" "" "0000684494" "00003294" "70" "271" "0" "271" "0" "c.271dup" "r.(?)" "p.(Cys91Leufs*5)" "" "0000684495" "00003294" "70" "1676" "0" "1676" "0" "c.1676del" "r.(?)" "p.(Tyr559Serfs*18)" "" "0000684656" "00003294" "70" "271" "0" "271" "0" "c.271dup" "r.(?)" "p.(Cys91Leufs*5)" "" "0000685013" "00003294" "90" "1091" "0" "1091" "0" "c.1091del" "r.(?)" "p.(Asn364Thrfs*5)" "" "0000710237" "00003294" "90" "9" "0" "15" "0" "c.9_15delinsGC" "r.(?)" "p.(Ser3Argfs*91)" "" "0000713386" "00003294" "90" "590" "0" "590" "0" "c.590A>G" "r.(?)" "p.(Tyr197Cys)" "" "0000713748" "00003294" "90" "270" "0" "271" "0" "c.270_271insT" "r.(?)" "p.(Cys91Leufs*5)" "" "0000733045" "00003294" "70" "271" "0" "271" "0" "c.271dup" "r.(?)" "p.(Cys91Leufs*5)" "" "0000733317" "00003294" "70" "669" "0" "674" "0" "c.669_674dup" "r.(?)" "p.(Gly224_Val225dup)" "" "0000733318" "00003294" "70" "271" "0" "271" "0" "c.271dup" "r.(?)" "p.(Cys91Leufs*5)" "" "0000733516" "00003294" "70" "271" "0" "271" "0" "c.271dup" "r.(?)" "p.(Cys91Leufs*5)" "" "0000733706" "00003294" "70" "2122" "0" "2123" "0" "c.2122_2123del" "r.(?)" "p.(Lys708Glufs*14)" "" "0000759696" "00003294" "90" "2119" "0" "2120" "0" "c.2119_2120del" "r.(?)" "p.(Val707Ter)" "" "0000759714" "00003294" "90" "2119" "0" "2120" "0" "c.2119_2120del" "r.(?)" "p.(Val707Ter)" "" "0000759721" "00003294" "90" "2119" "0" "2120" "0" "c.2119_2120del" "r.(?)" "p.(Val707Ter)" "" "0000759726" "00003294" "50" "145" "0" "145" "0" "c.145C>T" "r.(?)" "p.(Arg49Trp)" "" "0000760030" "00003294" "50" "1631" "0" "1631" "0" "c.1631A>G" "r.(?)" "p.(Asn544Ser)" "" "0000760056" "00003294" "50" "1631" "0" "1631" "0" "c.1631A>G" "r.(?)" "p.(Asn544Ser)" "" "0000760159" "00003294" "70" "271" "0" "271" "0" "c.271dup" "r.(?)" "p.(Cys91Leufs*5)" "" "0000760668" "00003294" "90" "1244" "0" "1244" "0" "c.1244del" "r.(?)" "p.(His415LeufsTer16)" "" "0000760685" "00003294" "90" "273" "0" "273" "0" "c.273C>G" "r.(?)" "p.(Cys91Trp)" "" "0000765528" "00003294" "90" "931" "0" "931" "0" "c.931T>G" "r.(?)" "p.(Ser311Ala)" "" "0000765531" "00003294" "90" "1856" "0" "1865" "0" "c.1856_1865del" "r.(?)" "p.(Lys619IlefsTer10)" "" "0000765534" "00003294" "90" "1024" "0" "1024" "0" "c.1024dup" "r.(?)" "p.(Ile342AsnfsTer20)" "" "0000765539" "00003294" "90" "1547" "0" "1547" "0" "c.1547del" "r.(?)" "p.(Thr516AsnfsTer8)" "" "0000765881" "00003294" "70" "1892" "0" "1896" "0" "c.1892_1896del" "r.(?)" "p.(Met631AsnfsTer3)" "" "0000765918" "00003294" "70" "1892" "0" "1896" "0" "c.1892_1896del" "r.(?)" "p.(Met631AsnfsTer3)" "" "0000765929" "00003294" "70" "728" "0" "731" "0" "c.728_731del" "r.(?)" "p.(Lys243IlefsTer15)" "" "0000786405" "00003294" "90" "1495" "0" "1495" "0" "c.1495G>T" "r.(?)" "p.(Glu499Ter)" "" "0000786406" "00003294" "90" "1495" "0" "1495" "0" "c.1495G>T" "r.(?)" "p.(Glu499Ter)" "" "0000786513" "00003294" "70" "1091" "0" "1091" "0" "c.1091del" "r.(?)" "p.(Asn364ThrfsTer5)" "" "0000786514" "00003294" "70" "1677" "0" "1677" "0" "c.1677del" "r.(?)" "p.(Tyr559Ter)" "" "0000793712" "00003294" "90" "530" "0" "530" "0" "c.530A>G" "r.(?)" "p.(Tyr177Cys)" "2" "0000793919" "00003294" "70" "1391" "0" "1391" "0" "c.1391C>G" "r.(?)" "p.(Ser464*)" "" "0000793920" "00003294" "70" "235" "0" "235" "0" "c.235dup" "r.(?)" "p.(Thr79Asnfs*17)" "" "0000794283" "00003294" "90" "1063" "0" "1063" "0" "c.1063C>T" "r.(?)" "p.(Gln355*)" "2" "0000794284" "00003294" "90" "378" "0" "378" "0" "c.378G>A" "r.(?)" "p.(Trp126*)" "2" "0000795036" "00003294" "90" "1171" "0" "1181" "0" "c.1171_1181dup" "r.(?)" "p.(Ser396Leufs*6)" "2" "0000797521" "00003294" "90" "271" "0" "271" "0" "c.271dup" "r.(?)" "p.(Cys91Leufs*5)" "" "0000797522" "00003294" "90" "271" "0" "271" "0" "c.271dup" "r.(?)" "p.(Cys91Leufs*5)" "" "0000797734" "00003294" "70" "765" "0" "765" "0" "c.765G>A" "r.(?)" "p.(Met255Ile)" "" "0000797937" "00003294" "90" "271" "0" "271" "0" "c.271dup" "r.(?)" "p.(Cys91Leufs*5)" "" "0000798082" "00003294" "90" "271" "0" "271" "0" "c.271dup" "r.(?)" "p.(Cys91Leufs*5)" "" "0000805941" "00003294" "30" "886" "0" "886" "0" "c.886G>A" "r.(?)" "p.(Ala296Thr)" "" "0000805942" "00003294" "50" "442" "0" "442" "0" "c.442T>C" "r.(?)" "p.(Tyr148His)" "" "0000805943" "00003294" "90" "164" "0" "164" "0" "c.164T>C" "r.(?)" "p.(Leu55Pro)" "" "0000810885" "00003294" "10" "1616" "0" "1616" "0" "c.1616C>T" "r.(?)" "p.(Pro539Leu)" "2" "0000810904" "00003294" "10" "2941" "0" "2941" "0" "c.*769G>C" "r.(=)" "p.(=)" "2" "0000810967" "00003294" "70" "931" "0" "931" "0" "c.931T>G" "r.(?)" "p.(Ser311Ala)" "2" "0000810968" "00003294" "70" "931" "0" "931" "0" "c.931T>G" "r.(?)" "p.(Ser311Ala)" "2" "0000810969" "00003294" "70" "931" "0" "931" "0" "c.931T>G" "r.(?)" "p.(Ser311Ala)" "2" "0000810970" "00003294" "70" "931" "0" "931" "0" "c.931T>G" "r.(?)" "p.(Ser311Ala)" "2" "0000810973" "00003294" "70" "32" "0" "32" "0" "c.32T>G" "r.(?)" "p.(Val11Gly)" "1" "0000810974" "00003294" "70" "931" "0" "931" "0" "c.931T>G" "r.(?)" "p.(Ser311Ala)" "2" "0000810977" "00003294" "70" "1202" "0" "1202" "0" "c.1202G>A" "r.(?)" "p.(Gly401Glu)" "2" "0000810982" "00003294" "70" "271" "0" "271" "0" "c.271dup" "r.(?)" "p.(Cys91Leufs*5)" "2" "0000811000" "00003294" "70" "1227" "0" "1227" "0" "c.1227del" "r.(?)" "p.(Gln409Hisfs*22)" "2" "0000811037" "00003294" "70" "273" "0" "273" "0" "c.273C>G" "r.(?)" "p.(Cys91Trp)" "2" "0000811038" "00003294" "70" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "" "0000811041" "00003294" "70" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "" "0000811042" "00003294" "70" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "" "0000811043" "00003294" "70" "273" "0" "273" "0" "c.273C>G" "r.(?)" "p.(Cys91Trp)" "2" "0000811044" "00003294" "70" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "" "0000811049" "00003294" "70" "273" "0" "273" "0" "c.273C>G" "r.(?)" "p.(Cys91Trp)" "2" "0000811050" "00003294" "70" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "" "0000811064" "00003294" "70" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "" "0000811065" "00003294" "70" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "" "0000811136" "00003294" "70" "1837" "0" "1837" "0" "c.1837T>C" "r.(?)" "p.(Tyr613His)" "2" "0000811139" "00003294" "70" "931" "0" "931" "0" "c.931T>G" "r.(?)" "p.(Ser311Ala)" "2" "0000811140" "00003294" "70" "931" "0" "931" "0" "c.931T>G" "r.(?)" "p.(Ser311Ala)" "2" "0000811141" "00003294" "70" "271" "0" "271" "0" "c.271dup" "r.(?)" "p.(Cys91Leufs*5)" "2" "0000811142" "00003294" "90" "128" "0" "128" "0" "c.128A>G" "r.(?)" "p.?" "1" "0000811143" "00003294" "70" "145" "0" "145" "0" "c.145C>T" "r.(?)" "p.(Arg49Trp)" "1" "0000811144" "00003294" "70" "145" "0" "145" "0" "c.145C>T" "r.(?)" "p.(Arg49Trp)" "1" "0000811145" "00003294" "70" "145" "0" "145" "0" "c.145C>T" "r.(?)" "p.(Arg49Trp)" "1" "0000811146" "00003294" "70" "145" "0" "145" "0" "c.145C>T" "r.(?)" "p.(Arg49Trp)" "1" "0000811147" "00003294" "70" "145" "0" "145" "0" "c.145C>T" "r.(?)" "p.(Arg49Trp)" "1" "0000811148" "00003294" "70" "271" "0" "271" "0" "c.271dup" "r.(?)" "p.(Cys91Leufs*5)" "2" "0000811149" "00003294" "70" "1241" "0" "1241" "0" "c.1241T>C" "r.(?)" "p.(Leu414Ser)" "2" "0000811150" "00003294" "70" "145" "0" "145" "0" "c.145C>T" "r.(?)" "p.(Arg49Trp)" "1" "0000811151" "00003294" "70" "219" "0" "229" "0" "c.219_229del" "r.(?)" "p.(Ser74Lysfs*18)" "2" "0000811152" "00003294" "70" "219" "0" "229" "0" "c.219_229del" "r.(?)" "p.(Ser74Lysfs*18)" "2" "0000811153" "00003294" "70" "271" "0" "271" "0" "c.271dup" "r.(?)" "p.(Cys91Leufs*5)" "2" "0000811154" "00003294" "70" "271" "0" "271" "0" "c.271dup" "r.(?)" "p.(Cys91Leufs*5)" "2" "0000811155" "00003294" "70" "271" "0" "271" "0" "c.271dup" "r.(?)" "p.(Cys91Leufs*5)" "2" "0000811156" "00003294" "70" "271" "0" "271" "0" "c.271dup" "r.(?)" "p.(Cys91Leufs*5)" "2" "0000811157" "00003294" "70" "273" "0" "273" "0" "c.273C>G" "r.(?)" "p.(Cys91Trp)" "2" "0000811158" "00003294" "70" "271" "0" "271" "0" "c.271dup" "r.(?)" "p.(Cys91Leufs*5)" "2" "0000811159" "00003294" "70" "909" "0" "912" "0" "c.909_912del" "r.(?)" "p.(Ser303Argfs*3)" "2" "0000811160" "00003294" "70" "271" "0" "271" "0" "c.271dup" "r.(?)" "p.(Cys91Leufs*5)" "2" "0000811161" "00003294" "70" "963" "0" "963" "0" "c.963T>G" "r.(?)" "p.(Tyr321*)" "2" "0000811162" "00003294" "70" "271" "0" "271" "0" "c.271dup" "r.(?)" "p.(Cys91Leufs*5)" "2" "0000811163" "00003294" "70" "271" "0" "271" "0" "c.271dup" "r.(?)" "p.(Cys91Leufs*5)" "2" "0000811164" "00003294" "70" "271" "0" "271" "0" "c.271dup" "r.(?)" "p.(Cys91Leufs*5)" "2" "0000811165" "00003294" "90" "1091" "0" "1091" "0" "c.1091del" "r.(?)" "p.(Asn364Thrfs*5)" "2" "0000811166" "00003294" "70" "271" "0" "271" "0" "c.271dup" "r.(?)" "p.(Cys91Leufs*5)" "2" "0000811167" "00003294" "90" "1599" "0" "1602" "0" "c.1599_1602del" "r.(?)" "p.(Thr534Ilefs*21)" "2" "0000811168" "00003294" "70" "271" "0" "271" "0" "c.271dup" "r.(?)" "p.(Cys91Leufs*5)" "2" "0000811169" "00003294" "70" "592" "0" "597" "0" "c.592_597del" "r.(?)" "p.(Phe198_Phe199del)" "2" "0000811170" "00003294" "70" "509" "0" "509" "0" "c.509T>C" "r.(?)" "p.(Leu170Ser)" "2" "0000811171" "00003294" "70" "509" "0" "509" "0" "c.509T>C" "r.(?)" "p.(Leu170Ser)" "2" "0000811172" "00003294" "70" "719" "0" "719" "0" "c.719T>G" "r.(?)" "p.(Val240Gly)" "2" "0000811173" "00003294" "70" "719" "0" "719" "0" "c.719T>G" "r.(?)" "p.(Val240Gly)" "2" "0000811174" "00003294" "70" "724" "0" "724" "0" "c.724del" "r.(?)" "p.(Gln242Argfs*17)" "2" "0000811175" "00003294" "70" "724" "0" "724" "0" "c.724del" "r.(?)" "p.(Gln242Argfs*17)" "2" "0000811176" "00003294" "70" "931" "0" "931" "0" "c.931T>G" "r.(?)" "p.(Ser311Ala)" "2" "0000811177" "00003294" "70" "931" "0" "931" "0" "c.931T>G" "r.(?)" "p.(Ser311Ala)" "2" "0000811178" "00003294" "70" "1044" "0" "1045" "0" "c.1044_1045del" "r.(?)" "p.(Pro350Ilefs*11)" "2" "0000811179" "00003294" "70" "2065" "0" "2065" "0" "c.2065A>C" "r.(?)" "p.(Thr689Pro)" "2" "0000811180" "00003294" "70" "1448" "0" "1452" "0" "c.1448_1452del" "r.(?)" "p.(Thr483Asnfs*8)" "2" "0000811181" "00003294" "70" "1448" "0" "1452" "0" "c.1448_1452del" "r.(?)" "p.(Thr483Asnfs*8)" "2" "0000811182" "00003294" "70" "1542" "0" "1542" "0" "c.1542del" "r.(?)" "p.(Asp515Ilefs*9)" "2" "0000811183" "00003294" "70" "1542" "0" "1542" "0" "c.1542del" "r.(?)" "p.(Asp515Ilefs*9)" "2" "0000811204" "00003294" "50" "765" "0" "765" "0" "c.765G>A" "r.(?)" "p.(Met255Ile)" "2" "0000811207" "00003294" "70" "271" "0" "271" "0" "c.271dup" "r.(?)" "p.(Cys91Leufs*5)" "2" "0000811212" "00003294" "70" "2060" "0" "2060" "0" "c.2060T>C" "r.(?)" "p.(Leu687Pro)" "2" "0000811215" "00003294" "70" "271" "0" "271" "0" "c.271dup" "r.(?)" "p.(Cys91Leufs*5)" "2" "0000811216" "00003294" "70" "145" "0" "145" "0" "c.145C>T" "r.(?)" "p.(Arg49Trp)" "1" "0000811217" "00003294" "70" "271" "0" "271" "0" "c.271dup" "r.(?)" "p.(Cys91Leufs*5)" "2" "0000811222" "00003294" "70" "145" "0" "145" "0" "c.145C>T" "r.(?)" "p.(Arg49Trp)" "1" "0000811227" "00003294" "70" "271" "0" "271" "0" "c.271dup" "r.(?)" "p.(Cys91Leufs*5)" "2" "0000811228" "00003294" "70" "1867" "0" "1867" "0" "c.1867C>T" "r.(?)" "p.(Gln623*)" "2" "0000811252" "00003294" "10" "424" "0" "424" "0" "c.424G>A" "r.(?)" "p.(Asp142Asn)" "2" "0000811253" "00003294" "10" "1616" "0" "1616" "0" "c.1616C>T" "r.(?)" "p.(Pro539Leu)" "2" "0000811697" "00003294" "90" "1091" "0" "1091" "0" "c.1091del" "c.1091del" "p.(Asn364Thrfs*5)" "2" "0000811700" "00003294" "90" "271" "0" "271" "0" "c.271dup" "c.271dup" "p.(Cys91Leufs*5)" "2" "0000811702" "00003294" "90" "641" "0" "641" "0" "c.641T>A" "c.641T>A" "p.(Val214Glu)" "2" "0000811703" "00003294" "90" "1676" "0" "1676" "0" "c.1676dup" "c.1676dup" "p.(Tyr559*)" "2" "0000811709" "00003294" "90" "1677" "0" "1677" "0" "c.1677del" "c.1677del" "p.(Tyr559*)" "2" "0000811713" "00003294" "70" "962" "0" "962" "0" "c.962A>G" "c.962A>G" "p.(Tyr321Cys)" "2" "0000811715" "00003294" "30" "765" "0" "765" "0" "c.765G>A" "c.765G>A" "p.(Met255Ile)" "2" "0000813033" "00003294" "70" "530" "0" "530" "0" "c.530A>G" "r.(?)" "p.(Tyr177Cys)" "" "0000813034" "00003294" "70" "968" "0" "968" "0" "c.968C>T" "r.(?)" "p.(Ala323Val)" "" "0000813035" "00003294" "70" "1547" "0" "1547" "0" "c.1547del" "r.(?)" "p.(Thr516Asnfs*8)" "" "0000813036" "00003294" "70" "1547" "0" "1547" "0" "c.1547del" "r.(?)" "p.(Thr516Asnfs*8)" "" "0000813037" "00003294" "70" "2137" "0" "2140" "0" "c.2137_2140del" "r.(?)" "p.(Lys713Phefs*16)" "" "0000813083" "00003294" "70" "271" "0" "271" "0" "c.271dup" "r.(?)" "p.(Cys91Leufs*5)" "2" "0000813084" "00003294" "70" "271" "0" "271" "0" "c.271dup" "r.(?)" "p.(Cys91Leufs*5)" "2" "0000813085" "00003294" "70" "271" "0" "271" "0" "c.271dup" "r.(?)" "p.(Cys91Leufs*5)" "2" "0000813086" "00003294" "70" "145" "0" "145" "0" "c.145C>T" "r.(?)" "p.(Arg49Trp)" "1" "0000813087" "00003294" "70" "473" "0" "473" "0" "c.473C>A" "r.(?)" "p.(Ser158*)" "2" "0000813088" "00003294" "70" "1677" "0" "1677" "0" "c.1677C>A" "r.(?)" "p.(Tyr559*)" "2" "0000813089" "00003294" "70" "2119" "0" "2120" "0" "c.2119_2120del" "r.(?)" "p.(Val707*)" "2" "0000813090" "00003294" "70" "92" "0" "92" "0" "c.92C>T" "r.(?)" "p.(Pro31Leu)" "1" "0000813091" "00003294" "70" "424" "0" "424" "0" "c.424G>A" "r.(?)" "p.(Asp142Asn)" "2" "0000813092" "00003294" "70" "271" "0" "271" "0" "c.271dup" "r.(?)" "p.(Cys91Leufs*5)" "2" "0000813093" "00003294" "70" "271" "0" "271" "0" "c.271dup" "r.(?)" "p.(Cys91Leufs*5)" "2" "0000813094" "00003294" "70" "271" "0" "271" "0" "c.271dup" "r.(?)" "p.(Cys91Leufs*5)" "2" "0000813095" "00003294" "70" "180" "0" "180" "0" "c.180dup" "r.(?)" "p.(Glu61Argfs*35)" "1" "0000813096" "00003294" "70" "1807" "0" "1807" "0" "c.1807G>A" "r.(?)" "p.(Gly603Ser)" "2" "0000813097" "00003294" "70" "271" "0" "271" "0" "c.271dup" "r.(?)" "p.(Cys91Leufs*5)" "2" "0000813098" "00003294" "70" "271" "0" "271" "0" "c.271dup" "r.(?)" "p.(Cys91Leufs*5)" "2" "0000813099" "00003294" "70" "1184" "0" "1184" "0" "c.1184dup" "r.(?)" "p.(His395Glnfs*14)" "2" "0000813100" "00003294" "70" "2119" "0" "2120" "0" "c.2119_2120del" "r.(?)" "p.(Val707*)" "2" "0000813101" "00003294" "70" "1184" "0" "1184" "0" "c.1184dup" "r.(?)" 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"p.(Gln131Argfs*4)" "2" "0000814568" "00003294" "90" "271" "0" "271" "0" "c.271dup" "r.(?)" "p.(Cys91Leufs*5)" "2" "0000814569" "00003294" "90" "391" "0" "391" "0" "c.391del" "r.(?)" "p.(Gln131Argfs*4)" "2" "0000814570" "00003294" "90" "539" "0" "539" "0" "c.539G>A" "r.(?)" "p.(Gly180Glu)" "2" "0000814587" "00003294" "70" "1590" "0" "1590" "0" "c.1590A>C" "r.(?)" "p.(Arg530Ser)" "2" "0000814636" "00003294" "70" "992" "0" "992" "0" "c.992T>C" "r.(?)" "p.(Val331Ala)" "2" "0000814637" "00003294" "70" "1599" "0" "1602" "0" "c.1599_1602del" "r.(?)" "p.(Thr534Ilefs*21)" "2" "0000814639" "00003294" "70" "271" "0" "271" "0" "c.271dup" "r.(?)" "p.(Cys91Leufs*5)" "2" "0000814640" "00003294" "70" "1013" "0" "1015" "0" "c.1013_1015del" "r.(?)" "p.(Glu338del)" "2" "0000814641" "00003294" "70" "271" "0" "271" "0" "c.271dup" "r.(?)" "p.(Cys91Leufs*5)" "2" "0000814642" "00003294" "70" "1510" "0" "1511" "0" "c.1510_1511del" "r.(?)" "p.(Ile504Serfs*17)" "2" "0000814656" "00003294" "50" "145" "0" "145" "0" "c.145C>T" "r.(?)" "p.(Arg49Trp)" "1" "0000814658" "00003294" "50" "145" "0" "145" "0" "c.145C>T" "r.(?)" "p.(Arg49Trp)" "1" "0000814667" "00003294" "90" "926" "0" "926" "0" "c.926T>C" "r.(?)" "p.(Leu309Pro)" "2" "0000814669" "00003294" "90" "9" "0" "14" "0" "c.9_14del" "r.(?)" "p.(Ser3_Met5delinsArg)" "1" "0000814670" "00003294" "90" "271" "0" "271" "0" "c.271dup" "r.(?)" "p.(Cys91Leufs*5)" "2" "0000815082" "00003294" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "" "0000815083" "00003294" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "" "0000815084" "00003294" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "" "0000815085" "00003294" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "" "0000815086" "00003294" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "" "0000817445" "00003294" "70" "850" "0" "850" "0" "c.850C>T" "r.(?)" "p.(Gln284*)" "2" "0000817446" "00003294" "70" "0" "0" "0" "0" "c.?" "r.(?)" "p.(Cys91fs*4)" "" "0000817447" "00003294" "70" "0" "0" "0" "0" "c.?" "r.(?)" "p.(Glu337del)" "" "0000817448" "00003294" "70" "992" "0" "992" "0" "c.992T>C" "r.(?)" "p.(Val331Ala)" "2" "0000817449" "00003294" "70" "0" "0" "0" "0" "c.?" "r.(?)" "p.(Leu533Leufs*21)" "" "0000817450" "00003294" "70" "0" "0" "0" "0" "c.?" "r.(?)" "p.(Tyr559fs*17)" "" "0000817451" "00003294" "70" "0" "0" "0" "0" "c.?" "r.(?)" "p.(Tyr559fs*17)" "" "0000817452" "00003294" "70" "0" "0" "0" "0" "c.?" "r.(?)" "p.(Cys91fs*4)" "" "0000817453" "00003294" "70" "0" "0" "0" "0" "c.?" "r.(?)" "p.(Tyr503fs*17)" "" "0000817454" "00003294" "70" "0" "0" "0" "0" "c.?" "r.(?)" "p.(Cys91fs*4)" "" "0000817455" "00003294" "70" "0" "0" "0" "0" "c.?" "r.(?)" "p.(Tyr503fs*17)" "" "0000817456" "00003294" "70" "0" "0" "0" "0" "c.?" "r.(?)" "p.(Cys91fs*4)" "" "0000817457" "00003294" "70" "1241" "0" "1241" "0" "c.1241T>C" "r.(?)" "p.(Leu414Ser)" "2" "0000817458" "00003294" "70" "992" "0" "992" "0" "c.992T>C" "r.(?)" "p.(Val331Ala)" "2" "0000817530" "00003294" "70" "0" "0" "0" "0" "c.?" "r.(?)" "p.(Tyr559*)" "" "0000817531" "00003294" "70" "0" "0" "0" "0" "c.?" "r.(?)" "p.(Tyr559*)" "" "0000817564" "00003294" "50" "285" "0" "285" "0" "c.285A>Y" "r.(?)" "p.(Arg95Ser)" "2" "0000817565" "00003294" "50" "0" "0" "0" "0" "c.?" "r.(?)" "p.(V707fs*)" "" "0000817568" "00003294" "50" "145" "0" "145" "0" "c.145C>T" "r.(?)" "p.(Arg49Trp)" "1" "0000817569" "00003294" "50" "416" "0" "416" "0" "c.416A>C" "r.(?)" "p.(Gln139Pro)" "2" "0000817570" "00003294" "50" "145" "0" "145" "0" "c.145C>T" "r.(?)" "p.(Arg49Trp)" "1" "0000817571" "00003294" "50" "416" "0" "416" "0" "c.416A>C" "r.(?)" "p.(Gln139Pro)" "2" "0000818184" "00003294" "90" "1677" "0" "1677" "0" "c.1677C>A" "r.(?)" "p.(Tyr559*)" "2" "0000818193" "00003294" "90" "9" "0" "15" "0" "c.9_15delinsGC" "r.(?)" "p.(Ser3Argfs*91)" "1" "0000818213" "00003294" "90" "2137" "0" "2140" "0" "c.2137_2140del" "r.(?)" "p.(Lys713Phefs*16)" "2" "0000818214" "00003294" "90" "962" "0" "962" "0" "c.962A>G" "r.(?)" "p.(Tyr321Cys)" "2" "0000818216" "00003294" "90" "235" "0" "235" "0" "c.235dup" "r.(?)" "p.(Thr79Asnfs*17)" "2" "0000818217" "00003294" "90" "271" "0" "271" "0" "c.271dup" "r.(?)" "p.(Cys91Leufs*5)" "2" "0000818218" "00003294" "90" "509" "0" "509" "0" "c.509T>C" "r.(?)" "p.(Leu170Ser)" "2" "0000818219" "00003294" "90" "641" "0" "641" "0" "c.641T>A" "r.(?)" "p.(Val214Glu)" "2" "0000818633" "00003294" "90" "1063" "0" "1063" "0" "c.1063C>T" "r.(?)" "p.(Gln355*)" "" "0000818634" "00003294" "70" "602" "0" "602" "0" "c.602G>A" "r.(?)" "p.(Cys201Tyr)" "" "0000818638" "00003294" "90" "378" "0" "378" "0" "c.378G>A" "r.(?)" "p.(Trp126*)" "" "0000818639" "00003294" "70" "539" "0" "539" "0" "c.539G>A" "r.(?)" "p.(Gly180Glu)" "" "0000818650" "00003294" "90" "271" "0" "271" "0" "c.271dup" "r.(?)" "p.(Cys91Leufs*5)" "2" "0000818651" "00003294" "90" "271" "0" "271" "0" "c.271dup" "r.(?)" "p.(Cys91Leufs*5)" "2" "0000819018" "00003294" "70" "1677" "0" "1677" "0" "c.1677C>A" "r.(?)" "p.(Tyr559*)" "" "0000819019" "00003294" "70" "98" "0" "98" "0" "c.98G>A" "r.(?)" "p.(Gly33Glu)" "" "0000819030" "00003294" "70" "1974" "0" "1974" "0" "c.1974T>G" "r.(?)" "p.(Tyr658*)" "" "0000819031" "00003294" "70" "2125" "0" "2125" "0" "c.2125A>T" "r.(?)" "p.(Arg709*)" "" "0000819327" "00003294" "70" "271" "0" "271" "0" "c.271dup" "r.(?)" "p.(Cys91Leufs*5)" "" "0000819333" "00003294" "70" "271" "0" "271" "0" "c.271dup" "r.(?)" "p.(Cys91Leufs*5)" "" "0000819334" "00003294" "70" "271" "0" "271" "0" "c.271dup" "r.(?)" "p.(Cys91Leufs*5)" "" "0000819399" "00003294" "70" "271" "0" "271" "0" "c.271dup" "r.(?)" "p.(Cys91Leufs*5)" "" "0000819403" "00003294" "70" "931" "0" "931" "0" "c.931T>G" "r.(?)" "p.(Ser311Ala)" "" "0000819405" "00003294" "70" "271" "0" "271" "0" "c.271dup" "r.(?)" "p.(Cys91Leufs*5)" "" "0000819412" "00003294" "70" "578" "0" "578" "0" "c.578T>C" "r.(?)" "p.(Leu193Ser)" "" "0000819433" "00003294" "70" "1603" "0" "1606" "0" "c.1603_1606del" "r.(?)" "p.(Asp535Ilefs*20)" "" "0000819591" "00003294" "70" "145" "0" "145" "0" "c.145C>T" "r.(?)" "p.(Arg49Trp)" "" "0000820644" "00003294" "70" "1250" "0" "1250" "0" "c.1250C>T" "r.(?)" "p.(Ala417Val)" "" "0000821163" "00003294" "90" "271" "0" "271" "0" "c.271dup" "r.(?)" "p.(Cys91Leufs*5)" "" "0000821526" "00003294" "70" "590" "0" "590" "0" "c.590A>G" "r.(?)" "p.(Tyr197Cys)" "" "0000822173" "00003294" "90" "1249" "0" "1249" "0" "c.1249G>A" "r.(?)" "p.(Ala417Thr)" "2" "0000822174" "00003294" "90" "1334" "0" "1338" "0" "c.1334_1338del" "r.(?)" "p.(Leu445Hisfs*3)" "2" "0000822759" "00003294" "50" "145" "0" "145" "0" "c.145C>T" "r.(?)" "p.(Arg49Trp)" "" "0000825727" "00003294" "70" "1063" "0" "1063" "0" "c.1063C>T" "r.(?)" "p.(Gln355*)" "2" "0000825728" "00003294" "70" "378" "0" "378" "0" "c.378G>A" "r.(?)" "p.(Trp126*)" "2" "0000827110" "00003294" "90" "145" "0" "145" "0" "c.145C>T" "r.(?)" "p.(Arg49Trp)" "1" "0000827111" "00003294" "70" "680" "0" "681" "0" "c.680_681delinsAA" "r.(?)" "p.(Gly227Glu)" "2" "0000827117" "00003294" "90" "145" "0" "145" "0" "c.145C>T" "r.(?)" "p.(Arg49Trp)" "1" "0000827118" "00003294" "90" "271" "0" "271" "0" "c.271dup" "r.(?)" "p.(Cys91Leufs*5)" "2" "0000827127" "00003294" "30" "424" "0" "424" "0" "c.424G>A" "r.(?)" "p.(Asp142Asn)" "2" "0000827846" "00003294" "90" "272" "0" "273" "0" "c.272_273insT" "r.(?)" "p.(His92ProfsTer4)" "" "0000827850" "00003294" "50" "641" "0" "641" "0" "c.641T>A" "r.(?)" "p.(Val214Glu)" "" "0000827856" "00003294" "90" "531" "0" "531" "0" "c.531C>A" "r.(?)" "p.(Tyr177Ter)" "" "0000827899" "00003294" "90" "273" "0" "273" "0" "c.273C>G" "r.(?)" "p.(Cys91Trp)" "" "0000830048" "00003294" "90" "198" "0" "198" "0" "c.198G>T" "r.(?)" "p.(Arg66Ser)" "2" "0000830049" "00003294" "90" "198" "0" "198" "0" "c.198G>T" "r.(?)" "p.(Arg66Ser)" "2" "0000830050" "00003294" "90" "271" "0" "271" "0" "c.271dup" "r.(?)" "p.(Cys91Leufs*5)" "2" "0000830051" "00003294" "90" "271" "0" "271" "0" "c.271dup" "r.(?)" "p.(Cys91Leufs*5)" "2" "0000830052" "00003294" "90" "559" "0" "561" "0" "c.559_561del" "r.(?)" "p.(His187del)" "2" "0000830053" "00003294" "90" "559" "0" "561" "0" "c.559_561del" "r.(?)" "p.(His187del)" "2" "0000830054" "00003294" "90" "1044" "0" "1045" "0" "c.1044_1045del" "r.(?)" "p.(Pro350Ilefs*11)" "2" "0000830055" "00003294" "90" "273" "0" "273" "0" "c.273C>G" "r.(?)" "p.(Cys91Trp)" "2" "0000830056" "00003294" "90" "271" "0" "271" "0" "c.271dup" "r.(?)" "p.(Cys91Leufs*5)" "2" "0000830057" "00003294" "90" "728" "0" "731" "0" "c.728_731del" "r.(?)" "p.(Lys243Ilefs*15)" "2" "0000830058" "00003294" "90" "724" "0" "724" "0" "c.724del" "r.(?)" "p.(Gln242Argfs*17)" "2" "0000830059" "00003294" "90" "724" "0" "724" "0" "c.724del" "r.(?)" "p.(Gln242Argfs*17)" "2" "0000830060" "00003294" "90" "530" "0" "530" "0" "c.530A>G" "r.(?)" "p.(Tyr177Cys)" "2" "0000830061" "00003294" "90" "530" "0" "530" "0" "c.530A>G" "r.(?)" "p.(Tyr177Cys)" "2" "0000830062" "00003294" "90" "1143" "0" "1143" "0" "c.1143T>G" "r.(?)" "p.(Tyr381*)" "2" "0000830063" "00003294" "90" "1091" "0" "1091" "0" "c.1091del" "r.(?)" "p.(Asn364Thrfs*5)" "2" "0000830064" "00003294" "90" "559" "0" "561" "0" "c.559_561del" "r.(?)" "p.(His187del)" "2" "0000830065" "00003294" "90" "559" "0" "561" "0" "c.559_561del" "r.(?)" "p.(His187del)" "2" "0000841600" "00003294" "70" "850" "0" "850" "0" "c.850C>T" "r.(?)" "p.(Gln284*)" "" "0000853526" "00003294" "30" "783" "0" "783" "0" "c.783A>G" "r.(?)" "p.(Thr261=)" "" "0000863134" "00003294" "30" "1791" "0" "1791" "0" "c.1791T>A" "r.(?)" "p.(Gly597=)" "" "0000863135" "00003294" "50" "101" "0" "101" "0" "c.101G>C" "r.(?)" "p.(Arg34Pro)" "" "0000871289" "00003294" "70" "271" "0" "271" "0" "c.271dupT" "r.(?)" "p.(Cys91Leufs*5)" "" "0000871290" "00003294" "70" "145" "0" "145" "0" "c.145C>T" "r.(?)" "p.(Arg49Trp)" "" "0000871291" "00003294" "70" "271" "0" "271" "0" "c.271dupT" "r.(?)" "p.(Cys91Leufs*5)" "" "0000871292" "00003294" "70" "145" "0" "145" "0" "c.145C>T" "r.(?)" "p.(Arg49Trp)" "" "0000878672" "00003294" "70" "1736" "0" "1736" "0" "c.1736A>G" "r.(?)" "p.(Lys579Arg)" "" "0000878673" "00003294" "70" "1736" "0" "1736" "0" "c.1736A>G" "r.(?)" "p.(Lys579Arg)" "" "0000879052" "00003294" "70" "728" "0" "731" "0" "c.728_731del" "r.(?)" "p.(Lys243Ilefs*15)" "" "0000879053" "00003294" "70" "728" "0" "731" "0" "c.728_731del" "r.(?)" "p.(Lys243Ilefs*15)" "" "0000879054" "00003294" "70" "728" "0" "731" "0" "c.728_731del" "r.(?)" "p.(Lys243Ilefs*15)" "" "0000879055" "00003294" "70" "728" "0" "731" "0" "c.728_731del" "r.(?)" "p.(Lys243Ilefs*15)" "" "0000879056" "00003294" "70" "271" "0" "271" "0" "c.271dupT" "r.(?)" "p.(Cys91Leufs*5)" "" "0000879057" "00003294" "70" "271" "0" "271" "0" "c.271dupT" "r.(?)" "p.(Cys91Leufs*5)" "" "0000879058" "00003294" "70" "271" "0" "271" "0" "c.271dupT" "r.(?)" "p.(Cys91Leufs*5)" "" "0000879059" "00003294" "70" "273" "0" "273" "0" "c.273C>G" "r.(?)" "p.(Cys91Trp)" "" "0000879060" "00003294" "70" "185" "0" "185" "0" "c.185A>G" "r.(?)" "p.(His62Arg)" "" "0000879062" "00003294" "70" "1044" "0" "1045" "0" "c.1044_1045delTT" "r.(?)" "p.(Pro350Ilefs*11)" "" "0000879063" "00003294" "70" "1044" "0" "1045" "0" "c.1044_1045delTT" "r.(?)" "p.(Pro350Ilefs*11)" "" "0000879064" "00003294" "70" "271" "0" "271" "0" "c.271dupT" "r.(?)" "p.(Cys91Leufs*5)" "" "0000879067" "00003294" "70" "1958" "0" "1967" "0" "c.1958_1967del" "r.(?)" "p.(Ser653Ilefs*4)" "" "0000879068" "00003294" "70" "1958" "0" "1967" "0" "c.1958_1967del" "r.(?)" "p.(Ser653Ilefs*4)" "" "0000879069" "00003294" "70" "728" "0" "731" "0" "c.728_731del" "r.(?)" "p.(Lys243Ilefs*15)" "" "0000879070" "00003294" "70" "1677" "0" "1677" "0" "c.1677C>A" "r.(?)" "p.(Tyr559*)" "" "0000879071" "00003294" "70" "1974" "0" "1974" "0" "c.1974T>G" "r.(?)" "p.(Tyr658*)" "" "0000879072" "00003294" "90" "98" "0" "98" "0" "c.98G>A" "r.(?)" "p.(Gly33Glu)" "" "0000879073" "00003294" "90" "2125" "0" "2125" "0" "c.2125A>T" "r.(?)" "p.(Arg709*)" "" "0000879074" "00003294" "90" "271" "0" "271" "0" "c.271dupT" "r.(?)" "p.(Cys91Leufs*5)" "" "0000879077" "00003294" "70" "39" "0" "46" "0" "c.39_46del" "r.(?)" "p.(Ala14Glyfs*79)" "" "0000879079" "00003294" "70" "271" "0" "271" "0" "c.271dupT" "r.(?)" "p.(Cys91Leufs*5)" "" "0000879080" "00003294" "70" "145" "0" "145" "0" "c.145C>T" "r.(?)" "p.(Arg49Trp)" "" "0000879081" "00003294" "70" "989" "0" "989" "0" "c.989T>C" "r.(?)" "p.(Val330Ala)" "" "0000879082" "00003294" "70" "235" "0" "235" "0" "c.235dup" "r.(?)" "p.(Thr79Asnfs*17)" "" "0000879083" "00003294" "70" "285" "0" "285" "0" "c.285A>T" "r.(?)" "p.(Arg95Ser)" "" "0000879084" "00003294" "70" "2119" "0" "2120" "0" "c.2119_2120del" "r.(?)" "p.(Val707*)" "" "0000879772" "00003294" "50" "1412" "0" "1412" "0" "c.1412A>T" "r.(?)" "p.(Asp471Val)" "" "0000882636" "00003294" "90" "271" "0" "271" "0" "c.271dup" "r.(?)" "p.(Cys91Leufs*5)" "" "0000882637" "00003294" "90" "909" "0" "912" "0" "c.909_912del" "r.(?)" "p.(Ser303Argfs*3)" "" "0000882638" "00003294" "90" "687" "0" "687" "0" "c.687del" "r.(?)" "p.(Val230Phefs*7)" "" "0000882639" "00003294" "90" "233" "0" "233" "0" "c.233G>A" "r.(?)" "p.(Cys78Tyr)" "" "0000882640" "00003294" "90" "1046" "0" "1046" "0" "c.1046T>C" "r.(?)" "p.(Leu349Ser)" "" "0000890792" "00003294" "30" "1545" "0" "1545" "0" "c.1545T>C" "r.(?)" "p.(Asp515=)" "" "0000890793" "00003294" "30" "1412" "0" "1412" "0" "c.1412A>T" "r.(?)" "p.(Asp471Val)" "" "0000890794" "00003294" "30" "1158" "0" "1158" "0" "c.1158G>A" "r.(?)" "p.(Leu386=)" "" "0000890795" "00003294" "50" "505" "0" "505" "0" "c.505T>C" "r.(?)" "p.(Ser169Pro)" "" "0000897036" "00003294" "70" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "" "0000925701" "00003294" "30" "966" "0" "966" "0" "c.966T>C" "r.(?)" "p.(Tyr322=)" "" "0000925702" "00003294" "30" "372" "0" "372" "0" "c.372T>A" "r.(?)" "p.(Ser124=)" "" "0000930148" "00003294" "90" "145" "0" "145" "0" "c.145C>T" "r.(?)" "p.(Arg49Trp)" "" "0000958088" "00003294" "70" "145" "0" "145" "0" "c.145C>T" "r.(?)" "p.(Arg49Trp)" "" "0000958861" "00003294" "90" "271" "0" "271" "0" "c.271dup" "r.(?)" "p.(Cys91LeufsTer5)" "" "0000958876" "00003294" "50" "1802" "0" "1802" "0" "c.1802C>T" "r.(?)" "p.(Pro601Leu)" "" "0000959239" "00003294" "90" "271" "0" "271" "0" "c.271dup" "r.(?)" "p.(Cys91LeufsTer5)" "" "0000959300" "00003294" "50" "1013" "0" "1015" "0" "c.1013_1015del" "r.(?)" "p.(Glu338del)" "" "0000967086" "00003294" "90" "145" "0" "145" "0" "c.145C>T" "r.(?)" "p.(Arg49Trp)" "" "0000980469" "00003294" "50" "271" "0" "271" "0" "c.271dup" "r.(?)" "p.(Cys91LeufsTer5)" "" "0001000332" "00003294" "90" "145" "0" "145" "0" "c.145C>T" "r.(?)" "p.(Arg49Trp)" "" "0001027557" "00003294" "70" "1241" "0" "1241" "0" "c.1241T>C" "r.(?)" "p.(Leu414Ser)" "" "0001027575" "00003294" "90" "909" "0" "912" "0" "c.909_912del" "r.(?)" "p.(Ser303ArgfsTer3)" "" "0001039465" "00003294" "90" "1838" "0" "1838" "0" "c.1838A>G" "r.(?)" "p.(Tyr613Cys)" "" "0001039466" "00003294" "90" "145" "0" "145" "0" "c.145C>T" "r.(?)" "p.(Arg49Trp)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 446 "{{screeningid}}" "{{variantid}}" "0000024239" "0000046800" "0000034099" "0000061100" "0000034099" "0000061101" "0000034102" "0000061110" "0000063400" "0000094352" "0000095509" "0000154074" "0000230683" "0000472272" "0000291964" "0000648653" "0000296612" "0000653301" "0000309621" "0000684494" "0000309622" "0000684495" "0000309783" "0000684656" "0000310102" "0000685013" "0000326645" "0000710237" "0000329263" "0000713386" "0000329263" "0000713748" "0000335036" "0000733045" "0000335036" "0000733516" "0000335308" "0000733317" "0000335308" "0000733706" "0000335309" "0000733318" "0000360043" "0000759714" "0000360046" "0000759696" "0000360046" "0000759721" "0000360048" "0000759726" "0000360201" "0000760030" "0000360207" "0000760056" "0000360267" "0000760159" "0000360626" "0000760668" "0000360626" "0000760685" "0000364653" "0000765528" "0000364656" "0000765531" "0000364659" "0000765534" 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