### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = BBS5) # 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}}" "BBS5" "Bardet-Biedl syndrome 5" "2" "q31" "unknown" "NG_011567.1" "UD_132118536408" "" "https://www.LOVD.nl/BBS5" "" "1" "970" "129880" "603650" "1" "1" "1" "1" "This database is one of the \"Eye disease\" gene variant databases.\r\nEstablishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/BBS5_codingDNA.html" "1" "" "This database is one of the \"Eye disease\" gene variant databases." "-1" "" "-1" "00001" "2012-07-13 00:00:00" "00006" "2020-11-11 19:50:41" "00000" "2025-11-01 13:22:20" ## 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}}" "00003291" "BBS5" "Bardet-Biedl syndrome 5" "001" "NM_152384.2" "" "NP_689597.1" "" "" "" "-58" "3099" "1026" "170336006" "170363165" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00112" "RP" "retinitis pigmentosa (RP)" "" "268000" "" "" "" "00001" "2013-02-21 17:12:36" "00006" "2021-01-18 09:53:26" "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" "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" "04378" "BBS5" "Bardet-Biedl syndrome, type 5 (BBS-5)" "AR" "615983" "" "" "" "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}}" "BBS5" "00139" "BBS5" "04378" ## Individuals ## Do not remove or alter this header ## ## Count = 121 "{{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}}" "00001823" "" "" "" "1" "" "00102" "" "" "" "" "(United States)" "" "0" "" "" "" "" "00063830" "" "" "" "1" "" "01424" "" "" "M" "yes" "Pakistan" "" "0" "" "" "" "" "00063831" "" "" "" "1" "" "01424" "" "" "M" "yes" "Pakistan" "" "0" "" "" "" "" "00063832" "" "" "" "1" "" "01424" "" "" "F" "yes" "Pakistan" "" "0" "" "" "" "" "00165230" "" "" "" "1" "" "02526" "" "" "M" "no" "Spain" "" "0" "" "" "" "" "00276324" "" "" "" "2" "" "03470" "" "" "M" "yes" "Turkey" "14y" "0" "" "" "" "" "00292364" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00308968" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" "" "00328008" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "Europe" "G001045" "00332509" "" "" "" "1" "" "00000" "{PMID:Avela 2018:29068140}" "" "" "" "Finland" "" "0" "" "" "" "Pat34" "00335087" "" "" "" "1" "" "00000" "{PMID:Haer-Wigman 2017:28224992}" "family" "" "no" "Netherlands" "" "0" "" "" "" "5305" "00335088" "" "" "" "1" "" "00000" "{PMID:Haer-Wigman 2017:28224992}" "patient" "" "no" "Netherlands" "" "0" "" "" "" "5159" "00358811" "" "" "" "1" "" "00000" "{PMID:Lindstrand 2016:27486776}" "" "M" "no" "United States" "" "0" "" "" "" "AR888-0311" "00358812" "" "" "" "1" "" "00000" "{PMID:Lindstrand 2016:27486776}" "" "F" "no" "United States" "" "0" "" "" "" "AR240-03" "00358816" "" "" "" "1" "" "00000" "{PMID:Lindstrand 2016:27486776}" "" "M" "no" "United States" "" "0" "" "" "" "AR883-04" "00359102" "" "" "" "1" "" "00000" "{PMID:Ellingford 2016:27208204}" "patient" "" "" "" "" "0" "" "" "" "12010090" "00362226" "" "" "" "1" "" "04043" "Fadaie 2021, submitted" "" "" "no" "Netherlands" "" "0" "" "" "" "?" "00362923" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2016:26766544}" "family" "" "" "Germany" "" "0" "" "" "" "CHRO391" "00363701" "" "" "" "1" "" "00000" "{PMID:Patel 2016:26355662}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "12DG1190" "00363716" "" "" "" "1" "" "00000" "{PMID:Patel 2016:26355662}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "12DG2322" "00379358" "" "" "" "1" "" "00000" "{PMID:Harville-2010:19797195}" "" "" "yes" "Pakistan" "" "0" "" "" "" "" "00379359" "" "" "" "1" "" "00000" "{PMID:Harville-2010:19797195}" "" "" "yes" "Pakistan" "" "0" "" "" "" "" "00380353" "" "" "" "1" "" "00000" "{PMID:M\'hamdi_2014:23432027}" "" "F" "yes" "Tunisia" "" "0" "" "" "Tunisian" "" "00380364" "" "" "" "1" "" "00000" "{PMID:M\'hamdi_2014:23432027}" "" "F" "yes" "Tunisia" "" "0" "" "" "Tunisian" "" "00381730" "" "" "" "1" "" "00000" "{PMID:Wang-2014:24154662}" "" "" "no" "" "" "0" "" "" "" "" "00382218" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "47" "00382808" "" "" "" "1" "" "00000" "{PMID:Song-2011:22025579}" "" "M" "" "" "" "0" "" "" "" "" "00383136" "" "" "" "1" "" "00000" "{PMID:Sathya Priya-2015:24400638}" "" "" "" "" "" "0" "" "" "" "" "00383235" "" "" "" "2" "" "00000" "{PMID:Muller-2010:20177705}" "" "" "" "" "" "0" "" "" "North Africa" "" "00383236" "" "" "" "5" "" "00000" "{PMID:Muller-2010:20177705}" "" "" "" "" "" "0" "" "" "Algeria" "" "00383237" "" "" "" "2" "" "00000" "{PMID:Muller-2010:20177705}" "" "" "" "" "" "0" "" "" "North Africa" "" "00383466" "" "" "" "1" "" "00000" "{PMID:Castro-Sanchez 2019:31506453}" "" "F" "" "Spain" "" "0" "" "" "white" "RP1573" "00383467" "" "" "" "1" "" "00000" "{PMID:Castro-Sanchez 2019:31506453}" "" "M" "" "Spain" "" "0" "" "" "white" "RTP23" "00383699" "" "" "" "2" "" "00000" "{PMID:Khan 2019:31173343}" "Family 1, individual IV-1" "M" "yes" "Pakistan" "" "0" "" "" "" "1_IV-1" "00383700" "" "" "00383699" "1" "" "00000" "{PMID:Khan 2019:31173343}" "Family 1, individual IV-4" "F" "yes" "Pakistan" "" "0" "" "" "" "1_IV-4" "00384605" "" "" "" "1" "" "00000" "{PMID:Jaffal 2019:31888296}" "" "F" "no" "Lebanon" "" "0" "" "" "" "FC51: II.2" "00384675" "" "" "" "1" "" "00000" "{PMID:Feuillan-2011:21209035}" "" "" "" "" "" "0" "" "" "" "" "00384676" "" "" "" "1" "" "00000" "{PMID:Feuillan-2011:21209035}" "" "" "" "" "" "0" "" "" "" "" "00384677" "" "" "" "1" "" "00000" "{PMID:Feuillan-2011:21209035}" "" "" "" "" "" "0" "" "" "" "" "00384709" "" "" "" "1" "" "00000" "{PMID:Billingsley-2010:20472660}" "" "F" "" "" "" "0" "" "" "British/Irish/Scottish" "" "00384803" "" "" "" "1" "" "00000" "{PMID:Abu-Safieh-2012:22353939}, Abu-Safieh 2010" "2 unaffected siblings screened" "" "no" "Saudi Arabia" "" "0" "" "" "Arab" "" "00384838" "" "" "" "1" "" "00000" "{PMID:Abu-Safieh-2012:22353939}" "" "" "yes" "Saudi Arabia" "" "0" "" "" "Arab" "" "00385154" "" "" "" "1" "" "00000" "{PMID:Jiman 2020:31836858}" "" "M" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "38" "00385155" "" "" "" "1" "" "00000" "{PMID:Jiman 2020:31836858}" "" "F" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "39" "00385217" "" "" "" "1" "" "00000" "{PMID:Chen-2011:21642631}" "" "" "" "" "" "0" "" "" "white" "" "00385218" "" "" "" "1" "" "00000" "{PMID:Chen-2011:21642631}" "" "" "" "" "" "0" "" "" "Tunisian" "" "00385237" "" "" "" "1" "" "00000" "{PMID:Redin-2012:22773737}" "" "" "" "France" "" "0" "" "" "" "" "00385250" "" "" "" "1" "" "00000" "{PMID:Redin-2012:22773737}" "" "" "" "Tunisia" "" "0" "" "" "" "" "00385253" "" "" "" "1" "" "00000" "{PMID:Redin-2012:22773737}" "" "" "" "Tunisia" "" "0" "" "" "" "" "00385254" "" "" "" "1" "" "00000" "{PMID:Redin-2012:22773737}" "" "" "" "Tunisia" "" "0" "" "" "" "" "00385283" "" "" "" "1" "" "00000" "{PMID:M\'hamdi-2014:23432027}" "" "F" "yes" "Tunisia" "" "0" "" "" "Tunisian" "" "00385284" "" "" "" "1" "" "00000" "{PMID:M\'hamdi-2014:23432027}" "" "F" "yes" "Tunisia" "" "0" "" "" "Tunisian" "" "00385302" "" "" "" "1" "" "00000" "{PMID:Imhoff-2011:20876674}" "additional mutation" "" "" "" "" "0" "" "" "English/Irish/Scottish" "" "00385303" "" "" "" "1" "" "00000" "{PMID:Imhoff-2011:20876674}" "additional mutation" "" "" "" "" "0" "" "" "Irish" "" "00385304" "" "" "" "1" "" "00000" "{PMID:Imhoff-2011:20876674}" "additional mutation" "" "" "" "" "0" "" "" "Turkish" "" "00385305" "" "" "" "1" "" "00000" "{PMID:Imhoff-2011:20876674}" "additional mutation" "" "" "" "" "0" "" "" "Turkish" "" "00385344" "" "" "" "1" "" "00000" "{PMID:Deveault-2011:21344540}" "" "M" "" "" "" "0" "" "" "British" "" "00385345" "" "" "" "1" "" "00000" "{PMID:Deveault-2011:21344540}" "novel" "F" "" "" "" "0" "" "" "French-Canadian" "" "00385357" "" "" "" "1" "" "00000" "{PMID:Deveault-2011:21344540}" "" "F" "" "" "" "0" "" "" "French" "" "00385387" "" "" "" "1" "" "00000" "{PMID:Deveault-2011:21344540}" "" "F" "" "" "" "0" "" "" "French" "" "00385558" "" "" "" "1" "" "00000" "{PMID:Janssen-2011:21052717}" "" "" "" "Somalia" "" "0" "" "" "" "A2507" "00385597" "" "" "" "1" "" "00000" "{PMID:Janssen-2011:21052717}" "" "" "" "" "" "0" "" "" "Northern-Europe" "AR364(A2849)-02" "00385598" "" "" "" "1" "" "00000" "{PMID:Janssen-2011:21052717}" "" "" "" "" "" "0" "" "" "Northern-Europe" "AR755(A2867)d-03" "00387577" "" "" "" "1" "" "00000" "{PMID:Scheidecker 2015:25982971}" "cone-rod distrophy, Syrian parents (2nd degree of consanguinity) and has a similarly affected older brother" "M" "yes" "" "" "0" "" "" "" "" "00387595" "" "" "" "1" "" "00000" "{PMID:Hirano 2015:26325687}" "novel" "M" "no" "Japan" "" "0" "" "" "Japanese" "" "00387596" "" "" "" "1" "" "00000" "{PMID:Hirano 2015:26325687}" "novel" "M" "no" "Japan" "" "0" "" "" "Japanese" "" "00388507" "" "" "" "1" "" "00000" "{PMID:Ellingsford 2018:29074561}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "15007281" "00388528" "" "" "" "1" "" "00000" "{PMID:Hirano 2020:32451492}" "" "M" "no" "Japan" "" "0" "" "" "" "3" "00388529" "" "" "" "1" "" "00000" "{PMID:Hirano 2020:32451492}" "" "M" "no" "Japan" "" "0" "" "" "" "4" "00388840" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 56, Bardet-Biedl syndrome, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "124" "00388841" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 56, Bardet-Biedl syndrome, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "125" "00389771" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 654, cone-rod dystrophy, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "1055" "00390174" "" "" "" "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" "" "" "" "G001045" "00390740" "" "" "" "1" "" "00000" "{PMID:Habibi 2020:32641690}" "Family F22, patient II.2" "M" "" "Tunisia" "" "0" "" "" "" "F22_II.2" "00390741" "" "" "" "1" "" "00000" "{PMID:Habibi 2020:32641690}" "Family F23, patient II.1" "M" "" "Tunisia" "" "0" "" "" "" "F23_II.1" "00390806" "" "" "" "1" "" "00000" "{PMID:Booij-2011:20801516}" "" "" "" "" "" "0" "" "" "" "" "00390832" "" "" "" "1" "" "00000" "{PMID:Chandrasekar-2018:29806606}" "These mutations segregated with the disease and the parents were heterozygous for the same" "" "" "India" "" "0" "" "" "Indian" "" "00391212" "" "" "" "1" "" "00000" "{PMID:Gumus 2021:32686083}" "brother of patient 2" "M" "" "Turkey" "" "0" "" "" "" "1" "00391213" "" "" "" "1" "" "00000" "{PMID:Gumus 2021:32686083}" "brother of patient 1" "M" "" "Turkey" "" "0" "" "" "" "2" "00395586" "" "" "" "1" "" "00000" "{PMID:Perea-Romero 2021:34448047}" "" "" "" "Spain" "" "0" "" "" "" "RP-1581" "00395588" "" "" "" "1" "" "00000" "{PMID:Perea-Romero 2021:34448047}" "" "" "" "Spain" "" "0" "" "" "" "RP-1666" "00395603" "" "" "" "1" "" "00000" "{PMID:Perea-Romero 2021:34448047}" "" "" "" "Spain" "" "0" "" "" "" "RP-2634" "00396577" "" "" "" "1" "" "00000" "{PMID:Mary 2019:30614526}" "Fetus: term at 17 gestation weeks" "F" "" "France" "" "0" "" "" "" "" "00396579" "" "" "" "1" "" "00000" "{PMID:Mary 2019:30614526}" "Autopsy: term at birth" "F" "" "France" "" "0" "" "" "" "" "00412548" "" "" "" "1" "" "00000" "{PMID:Maria 2016:27708425}" "family F02" "M" "yes" "" "" "0" "" "" "Pakistani" "F02_IV:I" "00412549" "" "" "" "1" "" "00000" "{PMID:Maria 2016:27708425}" "family F02" "M" "yes" "" "" "0" "" "" "Pakistani" "F02_IV:2" "00412550" "" "" "" "1" "" "00000" "{PMID:Maria 2016:27708425}" "family F03" "F" "yes" "" "" "0" "" "" "Pakistani" "F03_IV:2" "00417522" "" "" "" "1" "" "00000" "{PMID:Aldahmesh 2014:24488770}" "family BBS_DG5, individual a" "F" "yes" "Saudi Arabia" "" "0" "" "" "" "BBS_DG5a" "00417523" "" "" "" "1" "" "00000" "{PMID:Aldahmesh 2014:24488770}" "family BBS_DG5, individual b" "F" "yes" "Saudi Arabia" "" "0" "" "" "" "BBS_DG5b" "00417524" "" "" "" "1" "" "00000" "{PMID:Aldahmesh 2014:24488770}" "family BBS_DG5, individual c" "F" "yes" "Saudi Arabia" "" "0" "" "" "" "BBS_DG5c" "00417525" "" "" "" "1" "" "00000" "{PMID:Aldahmesh 2014:24488770}" "family BBS_DG5, individual d" "F" "yes" "Saudi Arabia" "" "0" "" "" "" "BBS_DG5d" "00418491" "" "" "" "1" "" "00000" "{PMID:Li 2004:15137946}" "family NFB9 proband" "M" "no" "" "" "0" "" "" "" "NFB9_06" "00418492" "" "" "" "1" "" "00000" "{PMID:Li 2004:15137946}" "family NFB9 proband\'s sister" "F" "no" "" "" "0" "" "" "" "NFB9_07" "00418493" "" "" "" "1" "" "00000" "{PMID:Li 2004:15137946}" "family KK63 proband" "M" "yes" "" "" "0" "" "" "" "KK63_03" "00418494" "" "" "" "1" "" "00000" "{PMID:Li 2004:15137946}" "family KK63 proband\'s brother" "M" "yes" "" "" "0" "" "" "" "KK63_05" "00418495" "" "" "" "1" "" "00000" "{PMID:Li 2004:15137946}" "family PB108 proband" "M" "yes" "" "" "0" "" "" "" "PB108_03" "00418496" "" "" "" "1" "" "00000" "{PMID:Li 2004:15137946}" "family PB127 proband" "M" "no" "" "" "0" "" "" "" "PB127_03" "00418497" "" "" "" "1" "" "00000" "{PMID:Li 2004:15137946}" "family AR291 proband" "F" "no" "" "" "0" "" "" "" "AR291_03" "00418498" "" "" "" "1" "" "00000" "{PMID:Li 2004:15137946}" "family AR291 proband\'s brother" "M" "no" "" "" "0" "" "" "" "AR291_05" "00418499" "" "" "" "1" "" "00000" "{PMID:Hjortshoj 2008:18203199}" "family 1, sibling 1" "?" "" "Somalia" "" "0" "" "" "" "sibling 1" "00418500" "" "" "" "1" "" "00000" "{PMID:Hjortshoj 2008:18203199}" "family 1, sibling 2" "?" "" "Somalia" "" "0" "" "" "" "sibling 2" "00418501" "" "" "" "1" "" "00000" "{PMID:Hjortshoj 2008:18203199}" "family 1, sibling 3" "?" "" "Somalia" "" "0" "" "" "" "sibling 3" "00418502" "" "" "" "1" "" "00000" "{PMID:Hjortshoj 2008:18203199}" "family 1, sibling 4" "?" "" "Somalia" "" "0" "" "" "" "sibling 4" "00418503" "" "" "" "1" "" "00000" "{PMID:Hjortshoj 2008:18203199}" "Family 2, single patient" "M" "" "Sri Lanka" "" "0" "" "" "" "" "00418525" "" "" "" "1" "" "00000" "{PMID:Al-Hamed 2014:24559376}" "Saudi family, sibling 1" "F" "" "Saudi Arabia" "" "0" "" "" "Arab" "sibling 1" "00418526" "" "" "" "1" "" "00000" "{PMID:Al-Hamed 2014:24559376}" "Saudi family, sibling 2" "F" "" "Saudi Arabia" "" "0" "" "" "Arab" "sibling 2" "00418527" "" "" "" "1" "" "00000" "{PMID:Al-Hamed 2014:24559376}" "Saudi family, sibling 3" "M" "" "Saudi Arabia" "" "0" "" "" "Arab" "sibling 3" "00418532" "" "" "" "1" "" "00000" "{PMID:Imani 2019:30850397}" "proband" "M" "" "Iran" "" "0" "" "" "Iranian" "II:2" "00418533" "" "" "" "1" "" "00000" "{PMID:Imani 2019:30850397}" "proband\'s older sister" "F" "" "Iran" "" "0" "" "" "Iranian" "II:1" "00418646" "" "" "" "1" "" "00006" "{PMID:Smaoui 2006:16877420}" "" "" "yes" "Tunisia" "" "0" "" "" "" "Fam57011" "00418661" "" "" "" "1" "" "00006" "{PMID:Smaoui 2006:16877420}" "" "" "yes" "Tunisia" "" "0" "" "" "" "" "00418662" "" "" "" "1" "" "00006" "{PMID:Smaoui 2006:16877420}" "" "" "yes" "Tunisia" "" "0" "" "" "" "" "00418663" "" "" "" "1" "" "00006" "{PMID:Smaoui 2006:16877420}" "" "" "yes" "Tunisia" "" "0" "" "" "" "" "00418664" "" "" "" "1" "" "00006" "{PMID:Smaoui 2006:16877420}" "" "" "yes" "Tunisia" "" "0" "" "" "" "" "00418665" "" "" "" "1" "" "00006" "{PMID:Smaoui 2006:16877420}" "" "" "yes" "Tunisia" "" "0" "" "" "" "" "00418666" "" "" "" "1" "" "00006" "{PMID:Smaoui 2006:16877420}" "" "" "yes" "Tunisia" "" "0" "" "" "" "" "00420912" "" "" "" "1" "" "00000" "{PMID:Torrefranca 2020:32811249}" "" "F" "" "" "" "0" "" "" "" "sibling 1" "00420913" "" "" "" "1" "" "00000" "{PMID:Torrefranca 2020:32811249}" "" "F" "" "" "" "0" "" "" "" "sibling 2" "00436507" "" "" "" "1" "" "04552" "Villafuerte-de la Cruz RA, et al., 2023. Submitted" "" "F" "yes" "Mexico" "" "" "" "None" "Hispanic" "2487444" "00447516" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "F" "" "Germany" "" "0" "" "" "" "BBS-43" "00447677" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "M" "" "Germany" "" "0" "" "" "" "MDS-428" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 121 "{{individualid}}" "{{diseaseid}}" "00001823" "00112" "00063830" "04378" "00063831" "04212" "00063832" "04212" "00165230" "04212" "00276324" "04378" "00292364" "00198" "00308968" "04214" "00328008" "04214" "00332509" "04214" "00335087" "00198" "00335088" "00198" "00358811" "04212" "00358812" "04212" "00358816" "04212" "00359102" "04214" "00362226" "04214" "00362923" "04214" "00363701" "04214" "00363716" "04214" "00379358" "04214" "00379359" "04214" "00380353" "04214" "00380364" "04214" "00381730" "04214" "00382218" "04214" "00382808" "04214" "00383136" "04214" "00383235" "04214" "00383236" "04214" "00383237" "04214" "00383466" "04214" "00383467" "04214" "00383699" "04214" "00383700" "04214" "00384605" "04214" "00384675" "04214" "00384676" "04214" "00384677" "04214" "00384709" "04214" "00384803" "04214" "00384838" "04214" "00385154" "04214" "00385155" "04214" "00385217" "04214" "00385218" "04214" "00385237" "04214" "00385250" "04214" "00385253" "04214" "00385254" "04214" "00385283" "04214" "00385284" "04214" "00385302" "04214" "00385303" "04214" "00385304" "04214" "00385305" "04214" "00385344" "04214" "00385345" "04214" "00385357" "04214" "00385387" "04214" "00385558" "04214" "00385597" "04214" "00385598" "04214" "00387577" "04214" "00387595" "04214" "00387596" "04214" "00388507" "04214" "00388528" "04214" "00388529" "04214" "00388840" "04214" "00388841" "04214" "00389771" "04214" "00390174" "04214" "00390740" "04214" "00390741" "04214" "00390806" "04214" "00390832" "04214" "00391212" "04214" "00391213" "04214" "00395586" "00198" "00395588" "04214" "00395603" "04214" "00396577" "04214" "00396579" "04214" "00412548" "04214" "00412549" "04214" "00412550" "04214" "00417522" "04212" "00417523" "04212" "00417524" "04212" "00417525" "04212" "00418491" "04212" "00418492" "04212" "00418493" "04212" "00418494" "04212" "00418495" "04212" "00418496" "04212" "00418497" "04212" "00418498" "04212" "00418499" "04212" "00418500" "04212" "00418501" "04212" "00418502" "04212" "00418503" "04212" "00418525" "04212" "00418526" "04212" "00418527" "04212" "00418532" "04212" "00418533" "04212" "00418646" "04212" "00418661" "04212" "00418662" "04212" "00418663" "04212" "00418664" "04212" "00418665" "04212" "00418666" "04212" "00420912" "04212" "00420913" "04212" "00436507" "04378" "00447516" "00198" "00447677" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00112, 00139, 00198, 04212, 04214, 04378 ## Count = 111 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000050418" "04378" "00063830" "01424" "Familial, autosomal recessive" "" "" "" "47y" "" "" "" "" "" "" "" "" "" "0000050421" "04212" "00063831" "01424" "Familial, autosomal recessive" "45y" "CRD/RP, intellectual disability, hypogonadism, bilateral renal calculi, Speech disability" "" "" "" "" "" "" "" "" "" "" "" "0000050422" "04212" "00063832" "01424" "Familial, autosomal recessive" "15y" "CRD/RP, polydactyly, hypogonadism, developmental delay, irregular menstruation, low progesterone levels, diabetes, borderline hepatomegaly with fatty infiltration, abnormally high cholesterol level, elevated liver enzymes" "" "" "" "" "" "" "" "" "" "" "" "0000210915" "04378" "00276324" "03470" "Familial, autosomal recessive" "14y" "Obesity\r\nRod cone dystrophy \r\nPolydactyly\r\nID\r\nRenal abnormalities\r\nDevelopmental delay\r\nDiabetes mellitus\r\nDental abnormalities\r\nBehavioral problems\r\nFacial dysmorphism" "14y" "14y" "" "" "" "" "" "" "BBS5" "" "" "0000234288" "04214" "00308968" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "BBS" "" "0000246235" "04214" "00328008" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cone dystrophy" "" "0000250693" "04214" "00332509" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000252802" "00198" "00335087" "00000" "Familial, autosomal recessive" "" "Bardet Biedl-like syndrome" "" "" "" "" "" "" "" "" "" "cone dystrophy" "" "0000252803" "00198" "00335088" "00000" "Unknown" "" "Bardet Biedl-like syndrome" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000254026" "04212" "00358811" "00000" "Unknown" "4y" "see paper; ..." "" "" "" "" "" "" "" "" "" "Bardet-Biedl Syndrome" "" "0000254027" "04212" "00358812" "00000" "Unknown" "21y" "see paper; ..." "" "" "" "" "" "" "" "" "" "Bardet-Biedl Syndrome" "" "0000254031" "04212" "00358816" "00000" "Unknown" "4y" "see paper; ..." "" "" "" "" "" "" "" "" "" "Bardet-Biedl Syndrome" "" "0000254399" "04214" "00359102" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000257640" "04214" "00362226" "04043" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000258289" "04214" "00362923" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Bardet Biedl syndrome" "" "0000259051" "04214" "00363701" "00000" "Familial" "" "syndromic" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "" "0000259066" "04214" "00363716" "00000" "Isolated (sporadic)" "" "syndromic" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "" "0000273231" "04214" "00379358" "00000" "Familial, autosomal recessive" "" "Retinitis pigmentosa, polydactyly, obesity, hypogonadism" "" "" "" "" "" "" "" "" "" "Bardete Biedl syndrome" "" "0000273232" "04214" "00379359" "00000" "Familial, autosomal recessive" "" "Retinitis pigmentosa, polydactyly, hypogonadism" "" "" "" "" "" "" "" "" "" "Bardete Biedl syndrome" "" "0000274204" "04214" "00380353" "00000" "Familial, autosomal recessive" "4y6m" "Facial palsy,retinitis pigmentaria" "" "" "" "" "" "" "" "" "" "Bardet–Biedl syndrome" "" "0000274215" "04214" "00380364" "00000" "Familial, autosomal recessive" "11y" "retinitis pigmentaria" "" "" "" "" "" "" "" "" "" "Bardet–Biedl syndrome" "" "0000275572" "04214" "00381730" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa Simplex" "" "0000276067" "04214" "00382218" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "" "0000276664" "04214" "00382808" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "choroideremia" "" "0000276926" "04214" "00383136" "00000" "Familial, autosomal recessive" "" "obesity, polydactyly" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "0000277022" "04214" "00383235" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000277023" "04214" "00383236" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000277024" "04214" "00383237" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000277251" "04214" "00383466" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "" "0000277252" "04214" "00383467" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "" "0000277484" "04214" "00383699" "00000" "Familial, autosomal recessive" "32y" "" "" "" "" "NM_152384.2" "" "" "" "" "" "Ciliopathy" "" "0000277485" "04214" "00383700" "00000" "Familial, autosomal recessive" "8y" "" "" "" "" "NM_152384.2" "" "" "" "" "" "Ciliopathy" "" "0000278395" "04214" "00384605" "00000" "Familial, autosomal recessive" "16y" "Visual acuity: 20/100–20/1" "11y" "13y" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "" "0000278458" "04214" "00384675" "00000" "Familial, autosomal recessive" "9y7m" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000278459" "04214" "00384676" "00000" "Familial, autosomal recessive" "7y8m" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000278460" "04214" "00384677" "00000" "Familial, autosomal recessive" "5y11m" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000278492" "04214" "00384709" "00000" "Familial, autosomal recessive" "14y10m" "digit anomaly" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000278586" "04214" "00384803" "00000" "Familial, autosomal recessive" "" "obesity, mental retardation, polydactyly, typical facies, hypogenitalism" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa (RP)" "" "0000278621" "04214" "00384838" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa (RP)" "" "0000278950" "04214" "00385154" "00000" "Familial, autosomal recessive" "23y4m" "HP:0000510 Rod-cone dystrophy; HP:0010864 Intellectual disability, severe; HP:0000054 Micropenis; HP:0004691 2-3 toe syndactyly; HP:0000819 Diabetes mellitus; HP:0001344 Absent speech; HP:0001513 Obesity; HP:0000708 Behavioural abnormality; HP:0001250 Seizures; HP:0011003 Severe Myopia;" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "Bardet-Biedl syndrome" "" "0000278951" "04214" "00385155" "00000" "Familial, autosomal recessive" "9y" "HP:0000548 Cone/cone-rod dystrophy; HP:0010442 Polydactyly; HP:0001513 Obesity; HP:0001263 Global developmental delay; HP:0011003 Severe Myopia;" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "Bardet-Biedl syndrome" "" "0000279013" "04214" "00385217" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000279014" "04214" "00385218" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000279033" "04214" "00385237" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000279046" "04214" "00385250" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000279049" "04214" "00385253" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000279050" "04214" "00385254" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000279079" "04214" "00385283" "00000" "Familial, autosomal recessive" "4y6m" "obesity, retinitis pigmentosa, polydactyly, hypogenitalism, facial palsy" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000279080" "04214" "00385284" "00000" "Familial, autosomal recessive" "11y" "obesity, retinitis pigmentosa, polydactyly, mental retardation, visual impairment" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000279098" "04214" "00385302" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000279099" "04214" "00385303" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000279100" "04214" "00385304" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000279101" "04214" "00385305" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000279140" "04214" "00385344" "00000" "Familial, autosomal recessive" "15y7m" "retinal dystrophy, weight anomaly, digit anomaly, developmental delay, developmental delay, developmental delay, Liver str,Psychosis, Teeth crowding, Small genitalia" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000279141" "04214" "00385345" "00000" "Familial, autosomal recessive" "27y10m" "retinal dystrophy, weight anomaly, digit anomaly, cognitive impairement, developmental delay, developmental delay, developmental delay, Asthma, DislipidemiaTeeth crowding, Sleep apnea" "" "" "" "" "" "" "" "" "" "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)" "" "0000279183" "04214" "00385387" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000279353" "04214" "00385558" "00000" "Familial, autosomal recessive" "" "retinitis pigmentosa, postaxial polydactyly, obesity, hypogonadism, AN,FL,MR,PS" "" "" "" "" "" "" "" "" "" "Bardet–Biedl syndrome (BBS)" "" "0000279392" "04214" "00385597" "00000" "Familial, autosomal recessive" "" "Retinitis pigmentosa, postaxial polydactyly, obesity, hypogonadism, renal anomalies" "" "" "" "" "" "" "" "" "" "Bardet–Biedl syndrome (BBS)" "" "0000279393" "04214" "00385598" "00000" "Familial, autosomal recessive" "" "Retinitis pigmentosa, postaxial polydactyly, obesity," "" "" "" "" "" "" "" "" "" "Bardet–Biedl syndrome (BBS)" "" "0000281140" "04214" "00387577" "00000" "Familial, autosomal recessive" "37y" "" "6y" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "" "0000281158" "04214" "00387595" "00000" "Familial, autosomal recessive" "" "" "20y" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "" "0000281159" "04214" "00387596" "00000" "Familial, autosomal recessive" "" "" "16y" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "" "0000282059" "04214" "00388507" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000282069" "04214" "00388528" "00000" "Familial, autosomal recessive" "20y" "intellectual disability, rod-cone dystrophy, obesity, hypogonadism, hepatic fibrosis, BMI: 29.7," "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "Bardet-Biedl syndrome" "" "0000282070" "04214" "00388529" "00000" "Familial, autosomal recessive" "16y" "intellectual disability, rod-cone dystrophy, obesity, hypogonadism, polydactyly, BMI: 35.9," "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "Bardet-Biedl syndrome" "" "0000282381" "04214" "00388840" "00000" "Familial, autosomal recessive" "6y" "age at genetic diagnosis mentioned" "" "2y" "" "" "" "" "" "" "Bardet-Biedl syndrome" "" "" "0000282382" "04214" "00388841" "00000" "Familial, autosomal recessive" "22y" "age at genetic diagnosis mentioned" "" "18y" "" "" "" "" "" "" "Bardet-Biedl syndrome" "" "" "0000283312" "04214" "00389771" "00000" "Familial, autosomal recessive" "35y" "age at genetic diagnosis mentioned" "" "30y" "" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000283712" "04214" "00390174" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000284228" "04214" "00390740" "00000" "Familial, autosomal recessive" "45y" "Visual acuity right eye/left eye: hand movement_hand movement, cone-rod dystrophy with bone spicule deposits and atrophy in the posterior pole and peripheral retina, macular atrophy" "9y" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "" "0000284229" "04214" "00390741" "00000" "Familial, autosomal recessive" "41y" "Visual acuity right eye/left eye: 1/20_1/20, rare bone spicule shaped pigment deposits in the, mid periphery macular atrophy, macular atrophy" "8y" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "" "0000284294" "04214" "00390806" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl’s syndrome" "" "0000284320" "04214" "00390832" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl syndrome" "" "0000284654" "04214" "00391212" "00000" "Familial, autosomal recessive" "14y" "BMI: 32.4, rod-cone dystrophy, polydactyly, severe intellectual disability, renal abnormalities, moderate developmental delay, diabetes mellitus, behavioral problems, Myopia, BBS5 c.682-2A > G" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "" "0000284655" "04214" "00391213" "00000" "Familial, autosomal recessive" "10y" "BMI: 26.6, rod-cone dystrophy, polydactyly, mild intellectual disability, genital abnormalities, liver anomalies, mild developmental delay, Pes equinovarus, BBS5 c.682-2A > G" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "" "0000288784" "00198" "00395586" "00000" "Familial, autosomal recessive" "" "early onset rod-cone dystrophy, myopia, delayed speech and language development, generalized myoclonic seizures, global developmental delay, intellectual disability, moderate, gait imbalance, dysmetria, pectus carinatum, kyphosis, absent eyebrow and eyelashes, narrow palate, alopecia, atopic dermatitis, dermal atrophy, excessive salivation, poor wound healing two previous variants already published in BBS1 and BBS5" "" "" "" "" "" "" "" "" "Mixed" "" "" "0000288786" "04214" "00395588" "00000" "Familial, autosomal recessive" "" "horizontal nystagmus, macular atrophy, photophobia, posterior subcapsular cataract, rod-cone dystrophy, red-green dyschromatopsia, obesity, delayed menarche, proteinuria, abnormality of the kidney, postaxial foot polydactyly, hiatus hernia, systemic lupus erythematosus" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "Bardet-Biedl-like syndrome" "" "0000288801" "04214" "00395603" "00000" "Familial, autosomal recessive" "" "photophobia, rod-cone dystrophy, fructose intolerance, postaxial hand and foot polydactyly" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "Bardet-Biedl-like syndrome" "" "0000289738" "04214" "00396577" "00000" "Familial, autosomal recessive" "" "polydactyly, postaxial, lower limbs, upper limbs, kidney abnormality, renal cysts, hepatic anomaly" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "0000289740" "04214" "00396579" "00000" "Familial, autosomal recessive" "" "polydactyly, postaxial, lower limbs, upper limbs, kidney abnormality, oligoamnios" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "0000304543" "04214" "00412548" "00000" "Familial, autosomal recessive" "47y" "body mass index: 25.2; retinal degeneration; polydactyly; obesity: No; intellectual disability; hypogonadism; renal anomalies: bilateral renal calculi; additional features: hypodontia, syndactyly, brachydactyly, ataxia, speech disability, gall bladder calculi, mild spleno- and hepatomegaly, elevated liver enzymes, abnormally high cholesterol level" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "" "" "0000304544" "04214" "00412549" "00000" "Familial, autosomal recessive" "45y" "body mass index: 25.1; retinal degeneration; no polydactyly; obesity: No; intellectual disability; hypogonadism; renal anomalies: bilateral renal calculi; additional features: speech disability" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "" "" "0000304545" "04214" "00412550" "00000" "Familial, autosomal recessive" "15y" "body mass index: 26.6; retinal degeneration; polydactyly; obesity: No; no intellectual disability; hypogonadism; renal anomalies: none; additional features: developmental delay, irregular menstruation, low progesterone levels, diabetes, borderline hepatomegaly with fatty infiltration, abnormally high cholesterol level, elevated liver enzymes" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "" "" "0000309002" "04212" "00417522" "00000" "Familial, autosomal recessive" "" "obesity; intellectual disability; renal symptoms: hydronephrosis; retinitis pigmentosa; polydactyly; no deafness; no anosmia; no atopy; BBS facies; congenital heart disease: none; fatty liver: Y; no hypogenitalism" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "" "0000309003" "04212" "00417523" "00000" "Familial, autosomal recessive" "" "obesity; intellectual disability; renal symptoms: renal hypoplasia; retinitis pigmentosa; polydactyly; no deafness; anosmia; no atopy; BBS facies; congenital heart disease: none; fatty liver: unknown; no hypogenitalism" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "" "0000309004" "04212" "00417524" "00000" "Familial, autosomal recessive" "" "obesity; intellectual disability; renal symptoms: none; retinitis pigmentosa; polydactyly; no deafness; no anosmia; atopy; BBS facies; congenital heart disease: none; fatty liver: Y; no hypogenitalism" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "" "0000309005" "04212" "00417525" "00000" "Familial, autosomal recessive" "" "obesity; intellectual disability; renal symptoms: hydronephrosis; retinitis pigmentosa; no polydactyly; no deafness; no anosmia; atopy; BBS facies; congenital heart disease: none; fatty liver: Y; no hypogenitalism" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "" "0000309842" "04212" "00418491" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "" "0000309843" "04212" "00418492" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "" "0000309844" "04212" "00418493" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "" "0000309845" "04212" "00418494" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "" "0000309846" "04212" "00418495" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "" "0000309847" "04212" "00418496" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "" "0000309848" "04212" "00418497" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "" "0000309849" "04212" "00418498" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "" "0000309850" "04212" "00418499" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "" "0000309851" "04212" "00418500" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "" "0000309852" "04212" "00418501" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "" "0000309853" "04212" "00418502" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "" "0000309854" "04212" "00418503" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "" "0000309861" "04212" "00418525" "00000" "Familial, autosomal recessive" "" "age at presentation: 9y; retinal dystrophy (night blindness and retinal dystrophy developed at 12y); renal anomalies (dilatation of left renal pelvis); learning difficulties; obesity; developmental delay; no congenital heart disease; astigmatism" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "" "0000309862" "04212" "00418526" "00000" "Familial, autosomal recessive" "" "age at presentation: 7y; no retinal dystrophy; renal anomalies (bilateral small kidneys on ultrasonogram); learning difficulties; obesity; developmental delay; congenital heart disease: ventricular septal defect; no astigmatism" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "" "0000309863" "04212" "00418527" "00000" "Familial, autosomal recessive" "" "age at presentation: 3y; no retinal dystrophy; no renal anomalies; learning difficulties; hypogonadism; obesity; developmental delay; congenital heart disease: ventricular septal defect; no astigmatism" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "" "0000309869" "04212" "00418532" "00000" "Familial, autosomal recessive" "11y" "retinal dystrophy: yes; body mass index: 30.3; obesity: yes; hypogonadism: yes; renal abnormality: no; secondary features: speech disability: yes; strabismus, cataract, astigmatism: no; dental anomaly: yes; gastrointestinal problems: no; menstruation in females: -; ophthalmic examinations: best corrected visual acuity and refraction right, left eye: -4.75-1.75 x 10 4/10, -4.75-3.00 x 10 3/10; fundus appearance: attenuated arterioles, pale optic disc" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "" "0000309870" "04212" "00418533" "00000" "Familial, autosomal recessive" "19y" "retinal dystrophy: yes; body mass index: not applicable; obesity: yes; hypogonadism: not applicable; renal abnormality: yes; secondary features: speech disability: no; strabismus, cataract, astigmatism: posterior subcapsular cataract; dental anomaly: no; gastrointestinal problems: digestion problem; menstruation in females: regular; ophthalmic examinations: best corrected visual acuity and refraction right, left eye: - 2-3 x 160 counting fingers 20-, -4 -2 x 10 counting fingers 20-; fundus appearance: attenuated arterioles, pale optic disc, bone spicules, macular atrophy" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "" "0000312159" "04212" "00420912" "00000" "Familial, autosomal recessive" "14y" "5y: mild intellectual disability, with delays in gross and fine motor, and cognitive domains; no other family members with retinal disease; anthropometric measurements: relative macrocephaly and central obesity with increased abdominal circumference for age; brachydactyly, postaxial polydactyly and clinodactyly of fifth digit; broad feet with post-axial polydactyly; best corrected visual acuity and refraction right, left eye: 20/100 with -5.50 sph, 20/70 with -5.00 sph; 15 prism diopter exotropia on alternate prism cover test; slit-lamp examination and intraocular pressures: normal; indirect ophthalmoscopy: findings compatible with a retinal dystrophy; macular optical coherence tomography: generalized macular thinning for both eyes; electroretinography: generalized cone and rod dysfunction; lipid profile: dyslipidemia; transrectal, kidney and urinary bladder ultrasonography: non-pathologic" "5y" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "" "" "0000312160" "04212" "00420913" "00000" "Familial, autosomal recessive" "11y" "7y: mild intellectual disability, with delays in gross and fine motor, and cognitive domains; no other family members with retinal disease; anthropometric measurements: relative macrocephaly and central obesity with increased abdominal circumference for age; brachydactyly, postaxial polydactyly and clinodactyly of fifth digit; sixth digit of the left hand surgically removed; broad feet with post-axial polydactyly; ocular examinations: best corrected visual acuity and refraction right, left eye: 20/200 with -0.5 sph -1.50 x 180, 16/200 with plano -1.5 x 180; 12 prism diopter exotropia by modified krimsky; slit-lamp examination and intraocular pressures: normal; indirect ophthalmoscopy: findings compatible with a retinal dystrophy; macular optical coherence tomography: generalized macular thinning for both eyes; electroretinography: generalized cone and rod dysfunction; lipid profile: dyslipidemia; transrectal, kidney and urinary bladder ultrasonography: non-pathologic" "7y" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "" "" "0000326685" "04378" "00436507" "04552" "Familial, autosomal recessive" "10y" "Obesity HP:0001513, Postaxial polydactyly HP:0100259, Intellectual disability HP:0001249, Hypogonadism HP:0000135, Acanthosis nigricans HP:0000956, Reduced visual acuity HP:0007663, Nyctalopia HP:0000662, Peripheral visual field loss HP:0007994, Retinitis pigmentosa HP:0000510" "06y" "20y" "" "" "" "" "" "" "# 615983" "Retinitis pigmentosa" "" "0000336715" "00198" "00447516" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "" "0000336876" "00198" "00447677" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "macular dystrophy" "" ## Screenings ## Do not remove or alter this header ## ## Count = 121 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000001626" "00001823" "1" "00102" "00102" "2013-08-08 23:20:19" "" "" "SEQ-NG-I" "DNA" "" "" "0000063961" "00063830" "1" "01424" "01424" "2016-04-18 18:38:06" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000063962" "00063831" "1" "01424" "01424" "2016-04-18 19:03:52" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000063963" "00063832" "1" "01424" "01424" "2016-04-18 19:16:58" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000166106" "00165230" "1" "02526" "02526" "2018-07-02 20:57:45" "" "" "SEQ-NG" "DNA" "" "" "0000277471" "00276324" "1" "03470" "03470" "2020-01-31 08:34:15" "" "" "SEQ-NG-I" "DNA" "Blood" "WES and Sanger" "0000293532" "00292364" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000310113" "00308968" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000329223" "00328008" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000333733" "00332509" "1" "00000" "00006" "2021-02-19 16:33:37" "" "" "SEQ-NG" "DNA" "" "" "0000336316" "00335087" "1" "00000" "00006" "2021-03-04 11:06:46" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000336317" "00335088" "1" "00000" "00006" "2021-03-04 11:06:46" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000360041" "00358811" "1" "00000" "00006" "2021-03-12 18:57:14" "" "" "arrayCGH;PCRlr;SEQ-NG" "DNA" "" "" "0000360042" "00358812" "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" "" "" "0000360340" "00359102" "1" "00000" "00006" "2021-03-18 16:44:20" "" "" "SEQ" "DNA" "" "105-gene panel" "0000363455" "00362226" "1" "04043" "00006" "2021-04-16 13:26:31" "" "" "SEQ-NG" "DNA" "" "" "0000364151" "00362923" "1" "00000" "00006" "2021-04-23 19:25:57" "" "" "SEQ-NG" "DNA" "" "WES" "0000364929" "00363701" "1" "00000" "00006" "2021-04-29 16:11:05" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000364944" "00363716" "1" "00000" "00006" "2021-04-29 16:11:05" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000380558" "00379358" "1" "00000" "00008" "2021-08-05 00:17:46" "" "" "SEQ" "DNA" "blood" "" "0000380559" "00379359" "1" "00000" "00008" "2021-08-05 00:17:46" "" "" "SEQ" "DNA" "blood" "" "0000381567" "00380353" "1" "00000" "00008" "2021-08-13 14:56:11" "" "" "SEQ" "DNA" "blood" "" "0000381578" "00380364" "1" "00000" "00008" "2021-08-13 14:56:11" "" "" "SEQ" "DNA" "blood" "" "0000382946" "00381730" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "PCR;SEQ-NG" "DNA" "blood or a saliva sample" "" "0000383432" "00382218" "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" "0000384024" "00382808" "1" "00000" "00008" "2021-09-13 01:01:20" "" "" "arraySEQ;PCR" "DNA" "blood" "" "0000384360" "00383136" "1" "00000" "00008" "2021-09-23 02:25:49" "" "" "arraySNP;PCR" "DNA;RNA" "blood" "" "0000384459" "00383235" "1" "00000" "00008" "2021-09-28 01:33:29" "" "" "microsat;SEQ" "DNA" "blood" "" "0000384460" "00383236" "1" "00000" "00008" "2021-09-28 01:33:29" "" "" "DHPLC;SEQ" "DNA" "blood" "" "0000384461" "00383237" "1" "00000" "00008" "2021-09-28 01:33:29" "" "" "arraySNP;SEQ" "DNA" "blood" "" "0000384691" "00383466" "1" "00000" "03840" "2021-09-29 11:24:51" "" "" "arraySNP;SEQ" "DNA" "" "" "0000384692" "00383467" "1" "00000" "03840" "2021-09-29 11:24:51" "" "" "SEQ-NG;SEQ" "DNA" "" "WES" "0000384924" "00383699" "1" "00000" "03840" "2021-09-29 12:25:10" "" "" "SEQ-NG;SEQ" "DNA" "blood" "" "0000384925" "00383700" "1" "00000" "03840" "2021-09-29 12:25:10" "" "" "SEQ" "DNA" "blood" "" "0000385832" "00384605" "1" "00000" "03840" "2021-10-01 12:53:59" "" "" "SEQ-NG-I" "DNA" "blood" "WES" "0000385901" "00384675" "1" "00000" "00008" "2021-10-05 15:28:49" "" "" "SEQ" "DNA" "blood" "" "0000385902" "00384676" "1" "00000" "00008" "2021-10-05 15:28:49" "" "" "SEQ" "DNA" "blood" "" "0000385903" "00384677" "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" "" "0000386029" "00384803" "1" "00000" "00008" "2021-10-05 15:28:49" "" "" "arraySNP;SEQ;RT-PCR" "DNA;RNA" "blood" "" "0000386064" "00384838" "1" "00000" "00008" "2021-10-05 15:28:49" "" "" "arraySNP;SEQ;RT-PCR" "DNA;RNA" "blood" "" "0000386383" "00385154" "1" "00000" "03840" "2021-10-08 17:29:22" "" "" "SEQ-NG-I" "DNA" "" "176 genes panel" "0000386384" "00385155" "1" "00000" "03840" "2021-10-08 17:29:22" "" "" "SEQ-NG-I" "DNA" "" "176 genes panel" "0000386446" "00385217" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "SEQ" "DNA" "blood" "" "0000386447" "00385218" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "SEQ" "DNA" "blood" "" "0000386466" "00385237" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "arrayCNV;SEQ" "DNA" "blood" "" "0000386479" "00385250" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "arrayCNV;SEQ" "DNA" "blood" "" "0000386482" "00385253" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "arrayCNV;SEQ" "DNA" "blood" "" "0000386483" "00385254" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "arrayCNV;SEQ" "DNA" "blood" "" "0000386512" "00385283" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "SEQ" "DNA" "" "targeted exon capture strategy" "0000386513" "00385284" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "SEQ" "DNA" "" "targeted exon capture strategy" "0000386531" "00385302" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "PCR" "DNA" "" "" "0000386532" "00385303" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "PCR" "DNA" "" "" "0000386533" "00385304" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "PCR" "DNA" "" "" "0000386534" "00385305" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "PCR" "DNA" "" "" "0000386573" "00385344" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "PCR" "DNA" "" "" "0000386574" "00385345" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "PCR" "DNA" "" "" "0000386586" "00385357" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "?" "?" "blood" "" "0000386616" "00385387" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "?" "?" "blood" "" "0000386787" "00385558" "1" "00000" "00008" "2021-10-13 10:28:12" "" "" "SEQ;HD" "DNA" "" "SEQ or HD" "0000386826" "00385597" "1" "00000" "00008" "2021-10-13 10:28:12" "" "" "SEQ" "DNA" "" "" "0000386827" "00385598" "1" "00000" "00008" "2021-10-13 10:28:12" "" "" "SEQ" "DNA" "" "" "0000388803" "00387577" "1" "00000" "00008" "2021-10-29 21:32:58" "" "" "SEQ" "DNA" "blood" "" "0000388821" "00387595" "1" "00000" "00008" "2021-10-29 21:32:58" "" "" "SEQ;PCR" "DNA;RNA" "blood" "" "0000388822" "00387596" "1" "00000" "00008" "2021-10-29 21:32:58" "" "" "SEQ;PCR" "DNA;RNA" "blood" "" "0000389748" "00388507" "1" "00000" "00008" "2021-11-04 08:27:28" "" "" "SEQ-NG" "DNA" "" "CNV gene panel next-generation sequencing" "0000389770" "00388528" "1" "00000" "03840" "2021-11-04 13:39:46" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "whole exome sequencing" "0000389771" "00388529" "1" "00000" "03840" "2021-11-04 13:39:46" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "whole exome sequencing" "0000390083" "00388840" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ" "DNA" "blood" "Sanger sequencing" "0000390084" "00388841" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET7 targeted sequencing panel - see paper" "0000391014" "00389771" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET5 targeted sequencing panel - see paper" "0000391415" "00390174" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing" "0000391981" "00390740" "1" "00000" "03840" "2021-11-11 19:27:39" "" "" "SEQ-NG-I" "DNA" "blood" "whole exome sequencing" "0000391982" "00390741" "1" "00000" "03840" "2021-11-11 19:27:39" "" "" "SEQ-NG-I" "DNA" "blood" "whole exome sequencing" "0000392047" "00390806" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "arraySEQ" "DNA" "Blood" "" "0000392073" "00390832" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "PCR;SEQ" "DNA" "blood" "" "0000392454" "00391212" "1" "00000" "03840" "2021-11-13 19:05:38" "" "" "SEQ-NG-I" "DNA" "blood" "whole exome sequencing" "0000392455" "00391213" "1" "00000" "03840" "2021-11-13 19:05:38" "" "" "SEQ-NG-I" "DNA" "blood" "whole exome sequencing" "0000396824" "00395586" "1" "00000" "03840" "2021-12-08 14:12:08" "" "" "?" "DNA" "" "whole exome sequencing" "0000396826" "00395588" "1" "00000" "03840" "2021-12-08 14:12:08" "" "" "?" "DNA" "" "clinical exome sequencing" "0000396841" "00395603" "1" "00000" "03840" "2021-12-08 14:12:08" "" "" "?" "DNA" "" "whole exome sequencing" "0000397820" "00396577" "1" "00000" "00008" "2021-12-16 13:33:12" "" "" "SEQ" "DNA" "" "" "0000397822" "00396579" "1" "00000" "00008" "2021-12-16 13:33:12" "" "" "SEQ" "DNA" "" "" "0000413818" "00412548" "1" "00000" "03840" "2022-06-30 13:58:35" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "targeted mutation screening, targated exome sequencing of BBS genes; whole exome sequencing" "0000413819" "00412549" "1" "00000" "03840" "2022-06-30 13:58:35" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "targeted mutation screening, targated exome sequencing of BBS genes; whole exome sequencing" "0000413820" "00412550" "1" "00000" "03840" "2022-06-30 13:58:35" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "targeted mutation screening, targated exome sequencing of BBS genes; whole exome sequencing" "0000418815" "00417522" "1" "00000" "03840" "2022-09-18 20:43:24" "" "" "arraySNP;SEQ" "DNA" "" "" "0000418816" "00417523" "1" "00000" "03840" "2022-09-18 20:43:24" "" "" "arraySNP;SEQ" "DNA" "" "" "0000418817" "00417524" "1" "00000" "03840" "2022-09-18 20:43:24" "" "" "arraySNP;SEQ" "DNA" "" "" "0000418818" "00417525" "1" "00000" "03840" "2022-09-18 20:43:24" "" "" "arraySNP;SEQ" "DNA" "" "" "0000419786" "00418491" "1" "00000" "03840" "2022-09-29 14:32:13" "" "" "SEQ" "DNA" "" "" "0000419787" "00418492" "1" "00000" "03840" "2022-09-29 14:32:13" "" "" "SEQ" "DNA" "" "" "0000419788" "00418493" "1" "00000" "03840" "2022-09-29 14:32:13" "" "" "SEQ" "DNA" "" "" "0000419789" "00418494" "1" "00000" "03840" "2022-09-29 14:32:13" "" "" "SEQ" "DNA" "" "" "0000419790" "00418495" "1" "00000" "03840" "2022-09-29 14:32:13" "" "" "SEQ" "DNA" "" "" "0000419791" "00418496" "1" "00000" "03840" "2022-09-29 14:32:13" "" "" "SEQ" "DNA" "" "" "0000419792" "00418497" "1" "00000" "03840" "2022-09-29 14:32:13" "" "" "SEQ" "DNA" "" "" "0000419793" "00418498" "1" "00000" "03840" "2022-09-29 14:32:13" "" "" "SEQ" "DNA" "" "" "0000419794" "00418499" "1" "00000" "03840" "2022-09-29 14:55:42" "" "" "DHPLC;arraySNP;SEQ" "DNA" "" "previous screening of BBS1, BBS2, BBS4, MKKS and BBS10 by DHPLC negative" "0000419795" "00418500" "1" "00000" "03840" "2022-09-29 14:55:42" "" "" "DHPLC;arraySNP;SEQ" "DNA" "" "previous screening of BBS1, BBS2, BBS4, MKKS and BBS10 by DHPLC negative" "0000419796" "00418501" "1" "00000" "03840" "2022-09-29 14:55:42" "" "" "DHPLC;arraySNP;SEQ" "DNA" "" "previous screening of BBS1, BBS2, BBS4, MKKS and BBS10 by DHPLC negative" "0000419797" "00418502" "1" "00000" "03840" "2022-09-29 14:55:42" "" "" "DHPLC;arraySNP;SEQ" "DNA" "" "previous screening of BBS1, BBS2, BBS4, MKKS and BBS10 by DHPLC negative" "0000419798" "00418503" "1" "00000" "03840" "2022-09-29 14:55:42" "" "" "DHPLC;arraySNP;SEQ" "DNA" "" "previous screening of BBS1, BBS2, BBS4, MKKS and BBS10 by DHPLC negative" "0000419820" "00418525" "1" "00000" "03840" "2022-09-29 16:55:14" "" "" "arraySNP;SEQ" "DNA" "" "" "0000419821" "00418526" "1" "00000" "03840" "2022-09-29 16:55:14" "" "" "arraySNP;SEQ" "DNA" "" "" "0000419822" "00418527" "1" "00000" "03840" "2022-09-29 16:55:14" "" "" "arraySNP;SEQ" "DNA" "" "" "0000419827" "00418532" "1" "00000" "03840" "2022-09-29 21:13:27" "" "" "SEQ-NG;SEQ" "DNA" "" "targeted exome sequencing" "0000419828" "00418533" "1" "00000" "03840" "2022-09-29 21:13:27" "" "" "SEQ-NG;SEQ" "DNA" "" "targeted exome sequencing" "0000419939" "00418646" "1" "00006" "00006" "2022-10-03 15:27:46" "" "" "SEQ" "DNA" "" "" "0000419955" "00418661" "1" "00006" "00006" "2022-10-03 16:24:08" "" "" "SEQ" "DNA" "" "" "0000419956" "00418662" "1" "00006" "00006" "2022-10-03 16:24:08" "" "" "SEQ" "DNA" "" "" "0000419957" "00418663" "1" "00006" "00006" "2022-10-03 16:24:08" "" "" "SEQ" "DNA" "" "" "0000419958" "00418664" "1" "00006" "00006" "2022-10-03 16:24:08" "" "" "SEQ" "DNA" "" "" "0000419959" "00418665" "1" "00006" "00006" "2022-10-03 16:24:08" "" "" "SEQ" "DNA" "" "" "0000419960" "00418666" "1" "00006" "00006" "2022-10-03 16:24:08" "" "" "SEQ" "DNA" "" "" "0000422223" "00420912" "1" "00000" "03840" "2022-11-03 11:14:50" "" "" "SEQ-NG;SEQ" "DNA" "blood" "exome sequencing" "0000422224" "00420913" "1" "00000" "03840" "2022-11-03 11:14:50" "" "" "SEQ-NG;SEQ" "DNA" "blood" "exome sequencing" "0000437990" "00436507" "1" "04552" "04552" "2023-09-20 19:40:16" "" "" "SEQ-NG-I" "DNA" "Buccal swab" "" "0000449093" "00447516" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000449254" "00447677" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 143 "{{screeningid}}" "{{geneid}}" "0000063961" "BBS5" "0000063962" "BBS5" "0000063963" "BBS5" "0000277471" "BBS5" "0000310113" "BBS5" "0000329223" "BBS5" "0000333733" "BBS5" "0000336316" "BBS5" "0000336317" "BBS5" "0000360041" "BBS1" "0000360041" "BBS4" "0000360041" "BBS5" "0000360041" "BBS7" "0000360041" "NPHP1" "0000360042" "BBS1" "0000360042" "BBS5" "0000360046" "BBS10" "0000360046" "BBS5" "0000363455" "BBS5" "0000364151" "BBS5" "0000364929" "BBS5" "0000364944" "BBS5" "0000380558" "ARL6" "0000380558" "BBS1" "0000380558" "BBS10" "0000380558" "BBS12" "0000380558" "BBS2" "0000380558" "BBS4" "0000380558" "BBS5" "0000380558" "BBS7" "0000380558" "BBS9" "0000380558" "MKKS" "0000380558" "TRIM32" "0000380558" "TTC8" "0000380559" "ARL6" "0000380559" "BBS1" "0000380559" "BBS10" "0000380559" "BBS12" "0000380559" "BBS2" "0000380559" "BBS4" "0000380559" "BBS5" "0000380559" "BBS7" "0000380559" "BBS9" "0000380559" "MKKS" "0000380559" "TRIM32" "0000380559" "TTC8" "0000381567" "BBS4" "0000381578" "WDPCP" "0000382946" "BBS5" "0000383432" "BBS5" "0000384024" "BBS5" "0000384360" "BBS5" "0000384459" "BBS5" "0000384460" "BBS5" "0000384461" "BBS5" "0000384691" "BBS5" "0000384692" "BBS5" "0000384924" "BBS5" "0000384925" "BBS5" "0000385832" "BBS12" "0000385901" "BBS5" "0000385902" "BBS5" "0000385903" "BBS5" "0000385935" "BBS10" "0000386029" "BBS1" "0000386064" "BBS5" "0000386383" "BBS5" "0000386384" "BBS5" "0000386446" "BBS5" "0000386447" "BBS5" "0000386466" "BBS5" "0000386479" "BBS5" "0000386482" "BBS4" "0000386483" "BBS5" "0000386512" "BBS4" "0000386513" "BBS5" "0000386531" "BBS5" "0000386532" "BBS5" "0000386533" "BBS5" "0000386534" "BBS5" "0000386573" "BBS5" "0000386574" "BBS5" "0000386586" "BBS5" "0000386616" "BBS5" "0000386787" "BBS5" "0000386826" "BBS5" "0000386827" "BBS5" "0000388803" "BBS5" "0000388821" "BBS5" "0000388822" "BBS5" "0000389748" "BBS5" "0000389770" "BBS5" "0000389771" "BBS5" "0000390083" "BBS5" "0000390084" "BBS5" "0000391014" "BBS5" "0000391415" "BBS5" "0000391981" "BBS5" "0000391982" "BBS5" "0000392047" "BBS5" "0000392073" "BBS5" "0000392454" "BBS5" "0000392455" "BBS5" "0000396824" "BBS1" "0000396826" "BBS5" "0000396841" "BBS1" "0000397820" "BBS5" "0000397822" "BBS5" "0000413818" "BBS5" "0000413819" "BBS5" "0000413820" "BBS5" "0000418815" "BBS5" "0000418816" "BBS5" "0000418817" "BBS5" "0000418818" "BBS5" "0000419786" "BBS5" "0000419787" "BBS5" "0000419788" "BBS5" "0000419789" "BBS5" "0000419790" "BBS5" "0000419791" "BBS5" "0000419792" "BBS5" "0000419793" "BBS5" "0000419794" "BBS5" "0000419795" "BBS5" "0000419796" "BBS5" "0000419797" "BBS5" "0000419798" "BBS5" "0000419820" "BBS5" "0000419821" "BBS5" "0000419822" "BBS5" "0000419827" "BBS5" "0000419828" "BBS5" "0000419939" "BBS5" "0000419955" "BBS5" "0000419956" "BBS5" "0000419957" "BBS5" "0000419958" "BBS5" "0000419959" "BBS5" "0000419960" "BBS5" "0000422223" "BBS5" "0000422224" "BBS5" "0000437990" "BBS5" ## 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 = 202 "{{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}}" "0000019541" "0" "55" "2" "170343584" "170343584" "subst" "4.06514E-6" "00102" "BBS5_000001" "g.170343584C>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.169487074C>A" "" "VUS" "" "0000094917" "3" "90" "2" "170356048" "170356058" "del" "0" "01424" "BBS5_000002" "g.170356048_170356058del" "" "" "" "g.25043_25053del" "" "Germline" "yes" "" "0" "" "" "g.169499538_169499548del" "" "pathogenic" "" "0000094918" "3" "90" "2" "170356048" "170356058" "del" "0" "01424" "BBS5_000002" "g.170356048_170356058del" "" "" "" "g.25043_25053del" "" "Germline" "yes" "" "0" "" "" "g.169499538_169499548del" "" "pathogenic" "" "0000094919" "3" "90" "2" "170356048" "170356058" "del" "0" "01424" "BBS5_000002" "g.170356048_170356058del" "" "" "" "g.25043_25053del" "" "Germline" "yes" "" "0" "" "" "g.169499538_169499548del" "" "pathogenic" "" "0000245743" "0" "30" "2" "170356065" "170356065" "subst" "0.00107646" "02330" "BBS5_000017" "g.170356065A>G" "" "" "" "BBS5(NM_152384.2):c.751A>G (p.N251D), BBS5(NM_152384.3):c.751A>G (p.N251D, p.(Asn251Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169499555A>G" "" "likely benign" "" "0000246005" "0" "90" "2" "170338824" "170338824" "del" "0" "02330" "BBS5_000006" "g.170338824del" "" "" "" "BBS5(NM_152384.3):c.123delA (p.G42Efs*11)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169482314del" "" "pathogenic" "" "0000251756" "0" "30" "2" "170356065" "170356065" "subst" "0.00107646" "02326" "BBS5_000017" "g.170356065A>G" "" "" "" "BBS5(NM_152384.2):c.751A>G (p.N251D), BBS5(NM_152384.3):c.751A>G (p.N251D, p.(Asn251Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169499555A>G" "" "likely benign" "" "0000252612" "0" "90" "2" "170344314" "170344314" "subst" "1.21979E-5" "02326" "BBS5_000007" "g.170344314A>G" "" "" "" "BBS5(NM_152384.2):c.209-2A>G, BBS5(NM_152384.3):c.209-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169487804A>G" "" "pathogenic" "" "0000255194" "0" "30" "2" "170349380" "170349380" "subst" "8.24266E-6" "01943" "BBS5_000013" "g.170349380A>G" "" "" "" "BBS5(NM_152384.2):c.387-4A>G, BBS5(NM_152384.3):c.387-4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169492870A>G" "" "likely benign" "" "0000258606" "0" "10" "2" "170349369" "170349372" "del" "0" "02330" "BBS5_000012" "g.170349369_170349372del" "" "" "" "BBS5(NM_152384.3):c.387-15_387-12delTGTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169492859_169492862del" "" "benign" "" "0000258607" "0" "70" "2" "170354200" "170354200" "subst" "0" "02330" "BBS5_000027" "g.170354200G>T" "" "" "" "BBS5(NM_152384.3):c.681+1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169497690G>T" "" "likely pathogenic" "" "0000260359" "0" "90" "2" "170344321" "170344321" "subst" "0" "02329" "BBS5_000008" "g.170344321G>A" "" "" "" "BBS5(NM_152384.3):c.214G>A (p.G72S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169487811G>A" "" "pathogenic" "" "0000261414" "0" "90" "2" "170344503" "170344503" "subst" "1.21959E-5" "02326" "BBS5_000010" "g.170344503C>T" "" "" "" "BBS5(NM_152384.3):c.265C>T (p.R89*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169487993C>T" "" "pathogenic" "" "0000261415" "0" "10" "2" "170344546" "170344546" "subst" "2.0324E-5" "02326" "BBS5_000011" "g.170344546G>A" "" "" "" "BBS5(NM_152384.3):c.308G>A (p.S103N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169488036G>A" "" "benign" "" "0000261416" "0" "90" "2" "170349422" "170349422" "subst" "0" "02326" "BBS5_000014" "g.170349422T>G" "" "" "" "BBS5(NM_152384.3):c.425T>G (p.L142*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169492912T>G" "" "pathogenic" "" "0000263592" "0" "30" "2" "170344494" "170344494" "subst" "1.21962E-5" "01943" "BBS5_000009" "g.170344494C>T" "" "" "" "BBS5(NM_152384.2):c.259-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169487984C>T" "" "likely benign" "" "0000263593" "0" "30" "2" "170354218" "170354218" "subst" "8.22707E-6" "01943" "BBS5_000016" "g.170354218T>C" "" "" "" "BBS5(NM_152384.2):c.681+19T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169497708T>C" "" "likely benign" "" "0000327502" "0" "50" "2" "170338793" "170338793" "subst" "4.06316E-6" "01804" "BBS5_000005" "g.170338793T>C" "" "" "" "BBS5(NM_152384.3):c.92T>C (p.(Ile31Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169482283T>C" "" "VUS" "" "0000327504" "0" "50" "2" "170366919" "170366920" "del" "0" "01804" "KLHL41_000001" "g.170366919_170366920del" "" "" "" "KLHL41(NM_006063.2):c.631_632del (p.(Arg211GlyfsTer2))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169510409_169510410del" "" "VUS" "" "0000337337" "0" "10" "2" "170336024" "170336024" "subst" "0.91533" "02327" "BBS5_000019" "g.170336024G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169479514G>C" "" "benign" "" "0000337338" "0" "90" "2" "170344314" "170344314" "subst" "1.21979E-5" "02327" "BBS5_000007" "g.170344314A>G" "" "" "" "BBS5(NM_152384.2):c.209-2A>G, BBS5(NM_152384.3):c.209-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169487804A>G" "" "pathogenic" "" "0000337339" "0" "90" "2" "170344367" "170344367" "subst" "0" "02327" "BBS5_000022" "g.170344367T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169487857T>C" "" "pathogenic" "" "0000339082" "0" "70" "2" "170361040" "170361040" "subst" "0" "02327" "BBS5_000026" "g.170361040A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169504530A>G" "" "likely pathogenic" "" "0000342022" "0" "50" "2" "170366769" "170366769" "subst" "8.12737E-6" "02327" "KLHL41_000003" "g.170366769C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169510259C>T" "" "VUS" "" "0000345615" "0" "50" "2" "170336088" "170336088" "subst" "0" "02327" "BBS5_000021" "g.170336088G>A" "" "" "" "BBS5(NM_152384.3):c.25G>A (p.(Glu9Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169479578G>A" "" "VUS" "" "0000345924" "0" "90" "2" "170356104" "170356104" "subst" "0" "02327" "BBS5_000024" "g.170356104G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169499594G>A" "" "pathogenic" "" "0000346687" "0" "50" "2" "170338793" "170338793" "subst" "4.06316E-6" "02327" "BBS5_000005" "g.170338793T>C" "" "" "" "BBS5(NM_152384.3):c.92T>C (p.(Ile31Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169482283T>C" "" "VUS" "" "0000347687" "0" "90" "2" "170336065" "170336065" "subst" "0" "02327" "BBS5_000020" "g.170336065T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169479555T>C" "" "pathogenic" "" "0000350972" "0" "90" "2" "170354136" "170354136" "subst" "1.63003E-5" "02327" "BBS5_000023" "g.170354136G>C" "" "" "" "BBS5(NM_152384.3):c.619-1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169497626G>C" "" "pathogenic" "" "0000370538" "11" "70" "2" "170350271" "170350271" "del" "0" "02526" "BBS5_000029" "g.170350271del" "" "" "" "538delT / g.914delT" "" "Germline" "" "" "0" "" "" "g.169493761del" "" "likely pathogenic" "" "0000370539" "21" "70" "2" "170349409" "170349409" "subst" "4.06851E-6" "02526" "BBS5_000028" "g.170349409C>T" "" "" "" "g.788C>T" "" "Germline" "" "" "0" "" "" "g.169492899C>T" "" "likely pathogenic" "" "0000510221" "0" "10" "2" "170338585" "170338585" "dup" "0" "02326" "BBS5_000030" "g.170338585dup" "" "" "" "BBS5(NM_152384.3):c.60-176dupA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.169482075dup" "" "benign" "" "0000510222" "0" "30" "2" "170338758" "170338758" "subst" "0.000532321" "02330" "BBS5_000031" "g.170338758T>C" "" "" "" "BBS5(NM_152384.2):c.60-3T>C, BBS5(NM_152384.3):c.60-3T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.169482248T>C" "" "likely benign" "" "0000510223" "0" "10" "2" "170338809" "170338809" "subst" "0.00637546" "01943" "BBS5_000032" "g.170338809C>T" "" "" "" "BBS5(NM_152384.2):c.108C>T (p.S36=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.169482299C>T" "" "benign" "" "0000510225" "0" "50" "2" "170343614" "170343614" "subst" "4.06719E-6" "01943" "BBS5_000033" "g.170343614C>T" "" "" "" "BBS5(NM_152384.2):c.178C>T (p.H60Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.169487104C>T" "" "VUS" "" "0000510227" "0" "90" "2" "170349422" "170349422" "subst" "0" "02329" "BBS5_000014" "g.170349422T>G" "" "" "" "BBS5(NM_152384.3):c.425T>G (p.L142*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.169492912T>G" "" "pathogenic" "" "0000510228" "0" "30" "2" "170350279" "170350279" "subst" "0.00422196" "02330" "BBS5_000035" "g.170350279A>G" "" "" "" "BBS5(NM_152384.2):c.551A>G (p.N184S, p.(Asn184Ser)), BBS5(NM_152384.3):c.551A>G (p.N184S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.169493769A>G" "" "likely benign" "" "0000510229" "0" "50" "2" "170350279" "170350279" "subst" "0.00422196" "01943" "BBS5_000035" "g.170350279A>G" "" "" "" "BBS5(NM_152384.2):c.551A>G (p.N184S, p.(Asn184Ser)), BBS5(NM_152384.3):c.551A>G (p.N184S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.169493769A>G" "" "VUS" "" "0000510230" "0" "30" "2" "170350279" "170350279" "subst" "0.00422196" "01804" "BBS5_000035" "g.170350279A>G" "" "" "" "BBS5(NM_152384.2):c.551A>G (p.N184S, p.(Asn184Ser)), BBS5(NM_152384.3):c.551A>G (p.N184S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.169493769A>G" "" "likely benign" "" "0000510231" "0" "30" "2" "170350279" "170350279" "subst" "0.00422196" "02326" "BBS5_000035" "g.170350279A>G" "" "" "" "BBS5(NM_152384.2):c.551A>G (p.N184S, p.(Asn184Ser)), BBS5(NM_152384.3):c.551A>G (p.N184S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.169493769A>G" "" "likely benign" "" "0000510233" "0" "30" "2" "170354138" "170354138" "subst" "0.00664816" "02326" "BBS5_000036" "g.170354138G>A" "" "" "" "BBS5(NM_152384.3):c.620G>A (p.R207H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.169497628G>A" "" "likely benign" "" "0000510235" "0" "50" "2" "170356065" "170356065" "subst" "0.00107646" "01943" "BBS5_000017" "g.170356065A>G" "" "" "" "BBS5(NM_152384.2):c.751A>G (p.N251D), BBS5(NM_152384.3):c.751A>G (p.N251D, p.(Asn251Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.169499555A>G" "" "VUS" "" "0000606347" "0" "50" "2" "170356022" "170356022" "subst" "0" "01943" "BBS5_000037" "g.170356022A>G" "" "" "" "BBS5(NM_152384.2):c.708A>G (p.K236=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.169499512A>G" "" "VUS" "" "0000606348" "0" "10" "2" "170356064" "170356064" "subst" "0.000426524" "02330" "BBS5_000038" "g.170356064C>T" "" "" "" "BBS5(NM_152384.3):c.750C>T (p.I250=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.169499554C>T" "" "benign" "" "0000638715" "3" "90" "2" "170355994" "170355994" "subst" "0" "03470" "BBS5_000039" "g.170355994A>G" "" "" "" "g.20307A>G" "" "Germline" "" "" "0" "" "" "g.169499484A>G" "" "pathogenic (recessive)" "" "0000650221" "1" "50" "2" "170350279" "170350279" "subst" "0.00422196" "03575" "BBS5_000035" "g.170350279A>G" "3/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 3 heterozygous, no homozygous; {DB:CLININrs137853921}" "Germline" "" "rs137853921" "0" "" "" "g.169493769A>G" "" "VUS" "" "0000676112" "0" "70" "2" "170344314" "170344314" "subst" "1.21979E-5" "02325" "BBS5_000007" "g.170344314A>G" "" "" "" "BBS5(NM_152384.2):c.209-2A>G, BBS5(NM_152384.3):c.209-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000685024" "0" "90" "2" "170354136" "170354136" "subst" "1.63003E-5" "00004" "BBS5_000023" "g.170354136G>C" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000688399" "0" "90" "2" "170359604" "170359604" "subst" "0" "01943" "BBS5_000041" "g.170359604G>C" "" "" "" "BBS5(NM_152384.2):c.817-1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000688400" "0" "30" "2" "170366686" "170366686" "subst" "0.00225496" "01804" "BBS5_000042" "g.170366686G>A" "" "" "" "KLHL41(NM_006063.2):c.398G>A (p.(Gly133Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000713346" "0" "70" "2" "170349409" "170349409" "subst" "4.06851E-6" "00000" "BBS5_000028" "g.170349409C>T" "" "{PMID:Carss 2017:28041643}" "" "2:170349409C>T ENST00000295240.3:c.412C>T (Arg138Cys)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000713728" "0" "70" "2" "170350279" "170350279" "subst" "0.00422196" "00000" "BBS5_000035" "g.170350279A>G" "" "{PMID:Carss 2017:28041643}" "" "2:170350279A>G ENST00000295240.3:c.551A>G (Asn184Ser)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000713729" "0" "70" "2" "170359688" "170359688" "subst" "2.44391E-5" "00000" "BBS5_000043" "g.170359688G>C" "" "{PMID:Carss 2017:28041643}" "" "2:170359688G>C ENST00000295240.3:c.900G>C (?))" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000717985" "0" "50" "2" "170338843" "170338843" "subst" "0" "01943" "BBS5_000044" "g.170338843G>A" "" "" "" "BBS5(NM_152384.2):c.142G>A (p.G48S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000717986" "0" "50" "2" "170343621" "170343621" "subst" "4.47329E-5" "01943" "BBS5_000045" "g.170343621T>C" "" "" "" "BBS5(NM_152384.2):c.185T>C (p.L62S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000717987" "0" "10" "2" "170354138" "170354138" "subst" "0.00664816" "02330" "BBS5_000036" "g.170354138G>A" "" "" "" "BBS5(NM_152384.3):c.620G>A (p.R207H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000731496" "1" "50" "2" "170350279" "170350279" "subst" "0.00422196" "00000" "BBS5_000035" "g.170350279A>G" "" "{PMID:Avela 2018:29068140}" "" "" "" "Germline" "" "" "0" "" "" "g.169493769A>G" "" "VUS" "" "0000735591" "0" "90" "2" "170344314" "170344314" "subst" "1.21979E-5" "00000" "BBS5_000007" "g.170344314A>G" "" "{PMID:Haer-Wigman 2017:28224992}" "" "" "" "Germline" "" "" "0" "" "" "g.169487804A>G" "" "pathogenic" "" "0000735592" "0" "90" "2" "170344314" "170344314" "subst" "1.21979E-5" "00000" "BBS5_000007" "g.170344314A>G" "" "{PMID:Haer-Wigman 2017:28224992}" "" "" "" "Germline" "yes" "" "0" "" "" "g.169487804A>G" "" "pathogenic" "" "0000735718" "0" "90" "2" "170344314" "170344314" "subst" "1.21979E-5" "00000" "BBS5_000007" "g.170344314A>G" "" "{PMID:Haer-Wigman 2017:28224992}" "" "" "" "Germline" "" "" "0" "" "" "g.169487804A>G" "" "pathogenic" "" "0000735719" "0" "90" "2" "170344367" "170344367" "subst" "0" "00000" "BBS5_000022" "g.170344367T>C" "" "{PMID:Haer-Wigman 2017:28224992}" "" "" "" "Germline" "yes" "" "0" "" "" "g.169487857T>C" "" "pathogenic" "" "0000759709" "21" "50" "2" "170350312" "170350312" "subst" "0.00631594" "00000" "BBS5_000040" "g.170350312A>G" "" "{PMID:Lindstrand 2016:27486776}" "" "" "" "Germline" "" "" "0" "" "" "g.169493802A>G" "" "VUS" "" "0000759712" "21" "50" "2" "170350279" "170350279" "subst" "0.00422196" "00000" "BBS5_000035" "g.170350279A>G" "" "{PMID:Lindstrand 2016:27486776}" "" "" "" "Germline" "" "" "0" "" "" "g.169493769A>G" "" "VUS" "" "0000759720" "21" "90" "2" "170355195" "170364954" "del" "0" "00000" "BBS5_000046" "g.170355195_170364954del" "" "{PMID:Lindstrand 2016:27486776}" "" "del exon8_12 170355189-170364951del" "9,762 bp deletion, AluYc3 - AluSg" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000760232" "3" "70" "2" "170336065" "170336065" "subst" "1.2265E-5" "00000" "BBS5_000047" "g.170336065T>A" "" "{PMID:Ellingford 2016:27208204}" "" "" "" "Germline" "" "" "0" "" "" "g.169479555T>A" "" "likely pathogenic" "" "0000764110" "0" "30" "2" "170349836" "170349836" "subst" "0" "04043" "BBS5_000048" "g.170349836A>G" "" "{PMID:Fadaie 2021:34795310}" "" "" "" "Germline" "" "" "0" "" "" "g.169493326A>G" "" "likely benign" "" "0000764913" "3" "70" "2" "170356104" "170356104" "subst" "0" "00000" "BBS5_000024" "g.170356104G>A" "" "{PMID:Weisschuh 2016:26766544}" "" "" "" "Germline" "" "" "0" "" "" "g.169499594G>A" "" "likely pathogenic (recessive)" "" "0000765871" "0" "70" "2" "170361032" "170361032" "dup" "0" "00000" "BBS5_000050" "g.170361032dup" "" "{PMID:Patel 2016:26355662}" "" "" "" "Germline" "" "" "0" "" "" "g.169504522dup" "" "likely pathogenic" "" "0000765886" "0" "70" "2" "170361021" "170361023" "del" "0" "00000" "BBS5_000049" "g.170361021_170361023del" "" "{PMID:Patel 2016:26355662}" "" "" "" "Germline" "" "" "0" "" "" "g.169504511_169504513del" "" "likely pathogenic" "" "0000793701" "3" "90" "2" "170336065" "170336065" "subst" "1.2265E-5" "00000" "BBS5_000047" "g.170336065T>A" "0/90 ethnically matched controls" "{PMID:Harville-2010:19797195}" "" "2T/A (M1K)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000793702" "3" "90" "2" "170336065" "170336065" "subst" "1.2265E-5" "00000" "BBS5_000047" "g.170336065T>A" "0/90 ethnically matched controls" "{PMID:Harville-2010:19797195}" "" "2T/A (M1K)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000795032" "0" "90" "2" "170350279" "170350279" "subst" "0.00422196" "00000" "BBS5_000035" "g.170350279A>G" "" "{PMID:M\'hamdi 2014:23432027}" "" "p.N184S" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000795054" "3" "90" "2" "170343585" "170343585" "subst" "0" "00000" "BBS5_000051" "g.170343585T>G" "" "{PMID:M\'hamdi 2014:23432027}" "" "c.149T >G" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000796922" "3" "90" "2" "170343584" "170343584" "subst" "4.06514E-6" "00000" "BBS5_000001" "g.170343584C>A" "" "{PMID:Wang-2014:24154662}" "" "c.148C>A" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000797525" "0" "70" "2" "170344321" "170344321" "subst" "0" "00000" "BBS5_000008" "g.170344321G>A" "" "{PMID:Jespersgaar 2019:30718709}" "" "BBS5 c.214G>A, p.(Gly72Ser), c.214G>A, p.(Gly72Ser), RP1 c.6171_6174del, p.(Thr2058Metfs*14)" "" "Germline" "?" "" "0" "" "" "g.169487811G>A" "" "likely pathogenic" "ACMG" "0000798449" "0" "70" "2" "170350279" "170350279" "subst" "0.00422196" "00000" "BBS5_000035" "g.170350279A>G" "" "{PMID:Song-2011:22025579}" "" "c.551A>G" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000799837" "0" "30" "2" "170338758" "170338758" "subst" "0.000532321" "01943" "BBS5_000031" "g.170338758T>C" "" "" "" "BBS5(NM_152384.2):c.60-3T>C, BBS5(NM_152384.3):c.60-3T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000799838" "0" "50" "2" "170344333" "170344333" "subst" "8.13048E-6" "01943" "BBS5_000052" "g.170344333A>G" "" "" "" "BBS5(NM_152384.2):c.226A>G (p.I76V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000799839" "0" "30" "2" "170349447" "170349447" "subst" "0" "01943" "BBS5_000053" "g.170349447G>A" "" "" "" "BBS5(NM_152384.2):c.450G>A (p.K150=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000810979" "3" "50" "2" "170349410" "170349410" "subst" "1.22036E-5" "00000" "BBS5_000054" "g.170349410G>A" "" "{PMID:Sathya Priya-2015:24400638}" "" "c.471G>A" "" "Germline" "no" "" "0" "" "" "" "" "VUS" "" "0000811119" "3" "90" "2" "170336064" "170336064" "subst" "4.08831E-6" "00000" "BBS5_000055" "g.170336064A>T" "" "{PMID:Muller-2010:20177705}" "" "c.1A>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000811120" "3" "90" "2" "170338824" "170338824" "del" "0" "00000" "BBS5_000006" "g.170338824del" "" "{PMID:Muller-2010:20177705}" "" "c.123delA" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000811121" "3" "90" "2" "170343602" "170343602" "subst" "0" "00000" "BBS5_000056" "g.170343602A>G" "" "{PMID:Muller-2010:20177705}" "" "c.166A>G" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000811453" "11" "70" "2" "170350279" "170350279" "subst" "0.00422196" "00000" "BBS5_000035" "g.170350279A>G" "" "{PMID:Castro-Sanchez 2019:31506453}" "" "c.551A>G/p.(N184S)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.169493769A>G" "" "likely pathogenic" "" "0000811454" "21" "70" "2" "170349409" "170349409" "subst" "4.06851E-6" "00000" "BBS5_000028" "g.170349409C>T" "" "{PMID:Castro-Sanchez 2019:31506453}" "" "c.412C>T/p.(R138C)" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.169492899C>T" "" "likely pathogenic" "" "0000811457" "11" "70" "2" "170350271" "170350271" "del" "0" "00000" "BBS5_000029" "g.170350271del" "" "{PMID:Castro-Sanchez 2019:31506453}" "" "c.538delT/p.(F180Ffs*6)" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.169493761del" "" "likely pathogenic" "" "0000811761" "3" "70" "2" "170343632" "170343632" "del" "0" "00000" "BBS5_000057" "g.170343632del" "" "{PMID:Khan 2019:31173343}" "" "c.196delA;, p.(Arg66Glufs*12)" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.169487122del" "" "likely pathogenic" "" "0000811762" "3" "70" "2" "170343632" "170343632" "del" "0" "00000" "BBS5_000057" "g.170343632del" "" "{PMID:Khan 2019:31173343}" "" "c.196delA;, p.(Arg66Glufs*12)" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.169487122del" "" "likely pathogenic" "" "0000812989" "11" "50" "2" "170350279" "170350279" "subst" "0.00422196" "00000" "BBS5_000035" "g.170350279A>G" "" "{PMID:Jaffal 2019:31888296}" "" "c.551A > G, p. (Asp184Ser)" "error in annotation: c.551A>G causes p.(Asn184Ser) and not p.(Asp184Ser), heterozygous" "Germline" "yes" "" "0" "" "" "g.169493769A>G" "" "VUS" "ACMG" "0000813067" "0" "70" "2" "170359677" "170359677" "subst" "0" "00000" "BBS5_000063" "g.170359677G>A" "" "{PMID:Feuillan-2011:21209035}" "" "c.889G>A" "unknown variant 2nd chromosome" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000813068" "0" "70" "2" "170354136" "170354136" "subst" "1.63003E-5" "00000" "BBS5_000023" "g.170354136G>C" "" "{PMID:Feuillan-2011:21209035}" "" "c.619-1G>C" "unknown variant 2nd chromosome" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000813069" "0" "70" "2" "170336117" "170336117" "dup" "0" "00000" "BBS5_000058" "g.170336117dup" "" "{PMID:Feuillan-2011:21209035}" "" "c.54dupC" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000813070" "0" "70" "2" "170354136" "170354136" "subst" "1.63003E-5" "00000" "BBS5_000023" "g.170354136G>C" "" "{PMID:Feuillan-2011:21209035}" "" "c.619-1G>C" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000813119" "0" "50" "2" "170350279" "170350279" "subst" "0.00422196" "00000" "BBS5_000035" "g.170350279A>G" "" "{PMID:Billingsley-2010:20472660}" "" "[N184S]+[=]" "normal 2nd chromosome" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000813257" "0" "50" "2" "170338833" "170338833" "subst" "0" "00000" "BBS5_000059" "g.170338833T>G" "" "{PMID:Abu-Safieh-2012:22353939}, Abu-Safieh 2010" "" "c.132T>G" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000813326" "3" "70" "2" "170343594" "170343594" "subst" "0" "00000" "BBS5_000060" "g.170343594C>T" "0/96 ethnically matched controls" "{PMID:Abu-Safieh-2012:22353939}" "" "c.158C>T p.(T53I)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000813876" "3" "70" "2" "170336065" "170336065" "subst" "1.2265E-5" "00000" "BBS5_000047" "g.170336065T>A" "" "{PMID:Jiman 2020:31836858}" "" "BBS5;NM_152384.2;;c.[2T>A];[2T>A];p.[(Met1?)];[(Met1?)];" "homozygous" "Germline" "yes" "" "0" "" "" "g.169479555T>A" "" "likely pathogenic" "" "0000813877" "3" "70" "2" "170336065" "170336065" "subst" "1.2265E-5" "00000" "BBS5_000047" "g.170336065T>A" "" "{PMID:Jiman 2020:31836858}" "" "BBS5;NM_152384.2;;c.[2T>A];[2T>A];p.[(Met1?)];[(Met1?)];" "homozygous" "Unknown" "?" "" "0" "" "" "g.169479555T>A" "" "likely pathogenic" "" "0000813966" "3" "90" "2" "0" "0" "" "0" "00000" "SNRNP200_000007" "g.?" "" "{PMID:Chen-2011:21642631}" "" "c.619–1G>C" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000813967" "3" "90" "2" "170343585" "170343585" "subst" "0" "00000" "BBS5_000051" "g.170343585T>G" "" "{PMID:Chen-2011:21642631}" "" "c.149T>G" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000813999" "3" "90" "2" "170349410" "170349410" "subst" "1.22036E-5" "00000" "BBS5_000054" "g.170349410G>A" "" "{PMID:Redin-2012:22773737}" "" "c.[413G>A];[413G>A]" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000814019" "3" "90" "2" "170343585" "170343585" "subst" "0" "00000" "BBS5_000051" "g.170343585T>G" "" "{PMID:Redin-2012:22773737}" "" "c.[149T>G];[149T>G]" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000814024" "0" "50" "2" "0" "0" "" "0" "00000" "SNRNP200_000007" "g.?" "" "{PMID:Redin-2012:22773737}" "" "BBS5:p.[N184S];[=]" "normal 2nd chromosome" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000814025" "3" "90" "2" "170350293" "170350293" "subst" "0" "00000" "BBS5_000062" "g.170350293C>T" "" "{PMID:Redin-2012:22773737}" "" "c.[565C>T];[565C>T]" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000814060" "3" "90" "2" "170343585" "170343585" "subst" "0" "00000" "BBS5_000051" "g.170343585T>G" "" "{PMID:M\'hamdi-2014:23432027}" "" "c.149T>G" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000814070" "0" "70" "2" "170350279" "170350279" "subst" "0.00422196" "00000" "BBS5_000035" "g.170350279A>G" "" "{PMID:M\'hamdi-2014:23432027}" "" "BBS5: p.N184S" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000814098" "0" "50" "2" "0" "0" "" "0" "00000" "SNRNP200_000007" "g.?" "" "{PMID:Imhoff-2011:20876674}" "" "[p.N184S]" "normal 2nd chromosome" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000814099" "0" "50" "2" "0" "0" "" "0" "00000" "SNRNP200_000007" "g.?" "" "{PMID:Imhoff-2011:20876674}" "" "[p.A242S]" "normal 2nd chromosome" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000814100" "0" "50" "2" "0" "0" "" "0" "00000" "SNRNP200_000007" "g.?" "" "{PMID:Imhoff-2011:20876674}" "" "[p.I389I]" "normal 2nd chromosome" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000814101" "0" "50" "2" "0" "0" "" "0" "00000" "SNRNP200_000007" "g.?" "" "{PMID:Imhoff-2011:20876674}" "" "[p.T501T]" "normal 2nd chromosome" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000814168" "2" "70" "2" "170344321" "170344321" "subst" "0" "00000" "BBS5_000008" "g.170344321G>A" "" "{PMID:Deveault-2011:21344540}" "" "[p.C91LfsX5];[p.H410Q]" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000814169" "2" "70" "2" "170348766" "170348766" "del" "0" "00000" "BBS5_000061" "g.170348766del232" "" "{PMID:Deveault-2011:21344540}" "" "[p.C91LfsX5];[p.Y469X]" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000814186" "3" "70" "2" "170350279" "170350279" "subst" "0.00422196" "00000" "BBS5_000035" "g.170350279A>G" "" "{PMID:Deveault-2011:21344540}" "" "K41fsX52/K41fsX52" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000814249" "0" "70" "2" "170356065" "170356065" "subst" "0.00107646" "00000" "BBS5_000017" "g.170356065A>G" "" "{PMID:Deveault-2011:21344540}" "" "C91fsX95/L348fsX360" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000814516" "3" "90" "2" "170344321" "170344321" "subst" "0" "00000" "BBS5_000008" "g.170344321G>A" "0.019" "{PMID:Janssen-2011:21052717}" "" "c.214G>A(H)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000814581" "0" "70" "2" "170350279" "170350279" "subst" "0.00422196" "00000" "BBS5_000035" "g.170350279A>G" "3% ; absent in 96 controls" "{PMID:Janssen-2011:21052717}" "" "c.551A>G(h)" "unknown variant 2nd chromosome" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000814582" "0" "70" "2" "170350279" "170350279" "subst" "0.00422196" "00000" "BBS5_000035" "g.170350279A>G" "3% ; absent in 96 controls" "{PMID:Janssen-2011:21052717}" "" "c.551A>G(h)" "unknown variant 2nd chromosome" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000817561" "3" "50" "2" "170336064" "170336064" "subst" "4.08831E-6" "00000" "BBS5_000055" "g.170336064A>T" "" "{PMID:Scheidecker 2015:25982971}" "" "p.M1L" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000817580" "0" "30" "2" "170354110" "170354110" "subst" "0" "00000" "BBS5_000064" "g.170354110T>G" "" "{PMID:Hirano 2015:26325687}" "" "IVS7-27T>G" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000817581" "0" "30" "2" "170344503" "170344503" "subst" "1.21959E-5" "00000" "BBS5_000010" "g.170344503C>T" "" "{PMID:Hirano 2015:26325687}" "" "p.R89X (c.C265T)" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000817582" "0" "90" "2" "170354110" "170354110" "subst" "0" "00000" "BBS5_000064" "g.170354110T>G" "" "{PMID:Hirano 2015:26325687}" "" "IVS7-27T>G" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000817583" "0" "90" "2" "170344503" "170344503" "subst" "1.21959E-5" "00000" "BBS5_000010" "g.170344503C>T" "" "{PMID:Hirano 2015:26325687}" "" "p.R89X (c.C265T)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000818983" "1" "50" "2" "170336059" "170361097" "dup" "0" "00000" "BBS5_000065" "g.(?_170336059)_(170361097_?)dup" "" "{PMID:Ellingsford 2018:29074561}" "" "chr2:170336059–170361097" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000819014" "1" "70" "2" "170344503" "170344503" "subst" "1.21959E-5" "00000" "BBS5_000010" "g.170344503C>T" "" "{PMID:Hirano 2020:32451492}" "" "BBS5 p.R89X, IVS7-27T > G" "no c. position written in publication, probable position given - RCV001548296.2" "Germline" "?" "" "0" "" "" "g.169487993C>T" "" "likely pathogenic" "" "0000819015" "1" "70" "2" "170344503" "170344503" "subst" "1.21959E-5" "00000" "BBS5_000010" "g.170344503C>T" "" "{PMID:Hirano 2020:32451492}" "" "BBS5 p.R89X, IVS7-27T > G" "no c. position written in publication, probable position given - RCV001548296.2" "Germline" "?" "" "0" "" "" "g.169487993C>T" "" "likely pathogenic" "" "0000819027" "2" "70" "2" "170354110" "170354110" "subst" "0" "00000" "BBS5_000064" "g.170354110T>G" "" "{PMID:Hirano 2020:32451492}" "" "BBS5 p.R89X, IVS7-27T > G" "" "Germline" "?" "" "0" "" "" "g.169497600T>G" "" "likely pathogenic" "" "0000819028" "2" "70" "2" "170354110" "170354110" "subst" "0" "00000" "BBS5_000064" "g.170354110T>G" "" "{PMID:Hirano 2020:32451492}" "" "BBS5 p.R89X, IVS7-27T > G" "" "Germline" "?" "" "0" "" "" "g.169497600T>G" "" "likely pathogenic" "" "0000819428" "1" "70" "2" "0" "0" "" "0" "00000" "SNRNP200_000007" "g.?" "" "{PMID:Weisschuh 2020:32531858}" "" "BBS5, variant 1: c.143-4_143-3ins440bp/p.?, variant 2: c.143-4_143-3ins440bp/p.?" "inserted nucleotides not given in the publication, possibly solved, homozygous" "Germline" "yes" "" "0" "" "" "g.?" "" "likely pathogenic" "" "0000819429" "1" "70" "2" "0" "0" "" "0" "00000" "SNRNP200_000007" "g.?" "" "{PMID:Weisschuh 2020:32531858}" "" "BBS5, variant 1: c.143-4_143-3ins440bp/p.?, variant 2: c.143-4_143-3ins440bp/p.?" "inserted nucleotides not given in the publication, possibly solved, homozygous" "Germline" "yes" "" "0" "" "" "g.?" "" "likely pathogenic" "" "0000820359" "1" "70" "2" "170356104" "170356104" "subst" "0" "00000" "BBS5_000024" "g.170356104G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "BBS5, variant 1: c.790G>A/p.G264R, variant 2: c.790G>A/p.G264R" "possibly solved, homozygous" "Germline" "yes" "" "0" "" "" "g.169499594G>A" "" "likely pathogenic" "" "0000821164" "0" "70" "2" "170349409" "170349409" "subst" "4.06851E-6" "00000" "BBS5_000028" "g.170349409C>T" "" "{PMID:Turro 2020:32581362}" "" "BBS5 c.412C>T, p.Arg138Cys" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.169492899C>T" "" "likely pathogenic" "" "0000821527" "0" "70" "2" "170350279" "170350279" "subst" "0.00422196" "00000" "BBS5_000035" "g.170350279A>G" "" "{PMID:Turro 2020:32581362}" "" "BBS5 c.551A>G, p.Asn184Ser" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.169493769A>G" "" "likely pathogenic" "" "0000822054" "3" "70" "2" "170344321" "170344321" "subst" "0" "00000" "BBS5_000008" "g.170344321G>A" "" "{PMID:Habibi 2020:32641690}" "" "BBS5 c.[214G > A];[214G > A], p.[G72S];[G72S]" "homozygous" "Germline" "?" "" "0" "" "" "g.169487811G>A" "" "likely pathogenic" "" "0000822055" "3" "70" "2" "170338824" "170338824" "del" "0" "00000" "BBS5_000006" "g.170338824del" "" "{PMID:Habibi 2020:32641690}" "" "BBS5 c.[123delA];[123delA], p.[G42Efs*11];[ G42Efs*11]" "homozygous" "Germline" "?" "" "0" "" "" "g.169482314del" "" "likely pathogenic" "" "0000822084" "0" "70" "2" "170350279" "170350279" "subst" "0.00422196" "00000" "BBS5_000035" "g.170350279A>G" "" "{PMID:Booij-2011:20801516}" "" "c.551A>G" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000822175" "0" "90" "2" "170349422" "170349422" "subst" "0" "00000" "BBS5_000014" "g.170349422T>G" "" "{PMID:Chandrasekar-2018:29806606}" "" "p.*142Lext*?" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000822754" "3" "70" "2" "170355994" "170355994" "subst" "0" "00000" "BBS5_000039" "g.170355994A>G" "" "{PMID:Gumus 2021:32686083}" "" "BBS5* (NM_152384) (LOVD#0000638715), c.682-2A > G, Splice site," "homozygous" "Germline" "yes" "" "0" "" "" "g.169499484A>G" "" "likely pathogenic" "" "0000822755" "3" "70" "2" "170355994" "170355994" "subst" "0" "00000" "BBS5_000039" "g.170355994A>G" "" "{PMID:Gumus 2021:32686083}" "" "BBS5* (NM_152384) (LOVD#0000638715), c.682-2A > G, Splice site," "homozygous" "Germline" "yes" "" "0" "" "" "g.169499484A>G" "" "likely pathogenic" "" "0000828513" "2" "50" "2" "170350279" "170350279" "subst" "0.00422196" "00000" "BBS5_000035" "g.170350279A>G" "" "{PMID:Perea-Romero 2021:34448047}" "" "BBS5, c.551A>G, p.Asn184Ser, heterozygous | heterozygous" "" "Germline" "yes" "" "0" "" "" "g.169493769A>G" "" "VUS" "ACMG" "0000828516" "3" "70" "2" "170343578" "170343578" "subst" "3.65871E-5" "00000" "BBS5_000066" "g.170343578G>C" "" "{PMID:Perea-Romero 2021:34448047}" "" "BBS5, c.143-1G>C, p.?, homozygous" "" "Germline" "yes" "" "0" "" "" "g.169487068G>C" "" "likely pathogenic" "ACMG" "0000828536" "3" "50" "2" "170354138" "170354138" "subst" "0.00664816" "00000" "BBS5_000036" "g.170354138G>A" "" "{PMID:Perea-Romero 2021:34448047}" "" "BBS5, c.620G>A, p.Arg207His, Triallelism" "" "Germline" "yes" "" "0" "" "" "g.169497628G>A" "" "VUS" "ACMG" "0000830030" "1" "90" "2" "170343602" "170343602" "subst" "0" "00000" "BBS5_000056" "g.170343602A>G" "" "{PMID:Mary-2019:30614526}" "" "c.[166A>G];[166A>G]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000830031" "2" "90" "2" "170343602" "170343602" "subst" "0" "00000" "BBS5_000056" "g.170343602A>G" "" "{PMID:Mary-2019:30614526}" "" "c.[166A>G];[166A>G]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000830032" "1" "90" "2" "170338824" "170338824" "del" "0" "00000" "BBS5_000006" "g.170338824del" "" "{PMID:Mary-2019:30614526}" "" "c.[123del];[123del]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000830033" "2" "90" "2" "170338824" "170338824" "del" "0" "00000" "BBS5_000006" "g.170338824del" "" "{PMID:Mary-2019:30614526}" "" "c.[123del];[123del]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000849074" "0" "70" "2" "170344314" "170344314" "subst" "1.21979E-5" "01943" "BBS5_000007" "g.170344314A>G" "" "" "" "BBS5(NM_152384.2):c.209-2A>G, BBS5(NM_152384.3):c.209-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000857865" "0" "30" "2" "170349369" "170349372" "del" "0" "02326" "BBS5_000012" "g.170349369_170349372del" "" "" "" "BBS5(NM_152384.3):c.387-15_387-12delTGTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000871363" "3" "70" "2" "170356048" "170356058" "del" "0" "00000" "BBS5_000002" "g.170356048_170356058del" "" "{PMID:Maria 2016:27708425}" "" "BBS5 c.734_744del , p.(E245Gfs*18)" "homozygous" "Germline" "yes" "" "0" "" "" "g.169499538_169499548del" "" "likely pathogenic (recessive)" "" "0000871364" "3" "70" "2" "170356048" "170356058" "del" "0" "00000" "BBS5_000002" "g.170356048_170356058del" "" "{PMID:Maria 2016:27708425}" "" "BBS5 c.734_744del , p.(E245Gfs*18)" "homozygous" "Germline" "yes" "" "0" "" "" "g.169499538_169499548del" "" "likely pathogenic (recessive)" "" "0000871365" "3" "70" "2" "170356048" "170356058" "del" "0" "00000" "BBS5_000002" "g.170356048_170356058del" "" "{PMID:Maria 2016:27708425}" "" "BBS5 c.734_744del , p.(E245Gfs*18)" "homozygous" "Germline" "yes" "" "0" "" "" "g.169499538_169499548del" "" "likely pathogenic (recessive)" "" "0000878682" "3" "70" "2" "170361032" "170361032" "dup" "0" "00000" "BBS5_000050" "g.170361032dup" "" "{PMID:Aldahmesh 2014:24488770}" "" "BBS5 c.966dup, p.(Ala323Cysfs*57)" "homozygous" "Germline" "?" "" "0" "" "" "g.169504522dup" "" "likely pathogenic" "" "0000878683" "3" "70" "2" "170361032" "170361032" "dup" "0" "00000" "BBS5_000050" "g.170361032dup" "" "{PMID:Aldahmesh 2014:24488770}" "" "BBS5 c.966dup, p.(Ala323Cysfs*57)" "homozygous" "Germline" "?" "" "0" "" "" "g.169504522dup" "" "likely pathogenic" "" "0000878684" "3" "70" "2" "170361032" "170361032" "dup" "0" "00000" "BBS5_000050" "g.170361032dup" "" "{PMID:Aldahmesh 2014:24488770}" "" "BBS5 c.966dup, p.(Ala323Cysfs*57)" "homozygous" "Germline" "?" "" "0" "" "" "g.169504522dup" "" "likely pathogenic" "" "0000878685" "3" "70" "2" "170361032" "170361032" "dup" "0" "00000" "BBS5_000050" "g.170361032dup" "" "{PMID:Aldahmesh 2014:24488770}" "" "BBS5 c.966dup, p.(Ala323Cysfs*57)" "homozygous" "Germline" "?" "" "0" "" "" "g.169504522dup" "" "likely pathogenic" "" "0000879951" "3" "70" "2" "170349522" "170349522" "subst" "0" "00000" "BBS5_000070" "g.170349522A>G" "" "{PMID:Li 2004:15137946}" "" "BBS5 A->G transition at the +3 position of the exon 6 splice donor" "homozygous" "Germline" "yes" "" "0" "" "" "g.169493012A>G" "" "likely pathogenic" "" "0000879952" "3" "70" "2" "170349522" "170349522" "subst" "0" "00000" "BBS5_000070" "g.170349522A>G" "" "{PMID:Li 2004:15137946}" "" "BBS5 A->G transition at the +3 position of the exon 6 splice donor" "homozygous" "Germline" "yes" "" "0" "" "" "g.169493012A>G" "" "likely pathogenic" "" "0000879953" "3" "70" "2" "170349422" "170349422" "subst" "0" "00000" "BBS5_000069" "g.170349422T>A" "" "{PMID:Li 2004:15137946}" "" "BBS5 L142X" "homozygous" "Germline" "yes" "" "0" "" "" "g.169492912T>A" "" "likely pathogenic" "" "0000879954" "3" "70" "2" "170349422" "170349422" "subst" "0" "00000" "BBS5_000069" "g.170349422T>A" "" "{PMID:Li 2004:15137946}" "" "BBS5 L142X" "homozygous" "Germline" "yes" "" "0" "" "" "g.169492912T>A" "" "likely pathogenic" "" "0000879955" "3" "70" "2" "0" "0" "" "0" "00000" "SNRNP200_000007" "g.?" "" "{PMID:Li 2004:15137946}" "" "BBS5 263-271 indelGCTCTTA" "no real nucleotide or protein annotation available, numbering system defining its location was not specified; homozygous" "Germline" "yes" "" "0" "" "" "g.?" "RCV000006534.4" "likely pathogenic" "" "0000879956" "3" "70" "2" "170343613" "170343613" "subst" "1.22027E-5" "00000" "BBS5_000067" "g.170343613G>A" "" "{PMID:Li 2004:15137946}" "" "BBS5 W59X" "homozygous" "Germline" "yes" "" "0" "" "" "g.169487103G>A" "" "likely pathogenic" "" "0000879957" "21" "70" "2" "170350279" "170350279" "subst" "0.00422196" "00000" "BBS5_000035" "g.170350279A>G" "" "{PMID:Li 2004:15137946}" "" "BBS5 N184S (triallelic)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.169493769A>G" "" "likely pathogenic" "" "0000879959" "21" "70" "2" "170350279" "170350279" "subst" "0.00422196" "00000" "BBS5_000035" "g.170350279A>G" "" "{PMID:Li 2004:15137946}" "" "BBS5 N184S (triallelic)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.169493769A>G" "" "likely pathogenic" "" "0000879961" "3" "90" "2" "170344321" "170344321" "subst" "0" "00000" "BBS5_000008" "g.170344321G>A" "0/43 East Africans (Kenya) and 0/58 West Africans (Nigeria)" "{PMID:Hjortshoj 2008:18203199}" "" "BBS5 c.214G>A, p.Gly72Ser" "homozygous" "Germline" "yes" "" "0" "" "" "g.169487811G>A" "" "pathogenic" "" "0000879962" "3" "90" "2" "170344321" "170344321" "subst" "0" "00000" "BBS5_000008" "g.170344321G>A" "0/43 East Africans (Kenya) and 0/58 West Africans (Nigeria)" "{PMID:Hjortshoj 2008:18203199}" "" "BBS5 c.214G>A, p.Gly72Ser" "homozygous" "Germline" "yes" "" "0" "" "" "g.169487811G>A" "" "pathogenic" "" "0000879963" "3" "90" "2" "170344321" "170344321" "subst" "0" "00000" "BBS5_000008" "g.170344321G>A" "0/43 East Africans (Kenya) and 0/58 West Africans (Nigeria)" "{PMID:Hjortshoj 2008:18203199}" "" "BBS5 c.214G>A, p.Gly72Ser" "homozygous" "Germline" "yes" "" "0" "" "" "g.169487811G>A" "" "pathogenic" "" "0000879964" "3" "90" "2" "170344321" "170344321" "subst" "0" "00000" "BBS5_000008" "g.170344321G>A" "0/43 East Africans (Kenya) and 0/58 West Africans (Nigeria)" "{PMID:Hjortshoj 2008:18203199}" "" "BBS5 c.214G>A, p.Gly72Ser" "homozygous" "Germline" "yes" "" "0" "" "" "g.169487811G>A" "" "pathogenic" "" "0000879965" "3" "90" "2" "170350275" "170350275" "subst" "0" "00000" "BBS5_000071" "g.170350275A>G" "0/54 Indian individuals" "{PMID:Hjortshoj 2008:18203199}" "" "BBS5 c.547A> G, p.Thr183Ala" "homozygous" "Germline" "yes" "" "0" "" "" "g.169493765A>G" "" "pathogenic" "" "0000879988" "3" "70" "2" "170361032" "170361032" "dup" "0" "00000" "BBS5_000050" "g.170361032dup" "0/100 normal controls from a Saudi Arabian population" "{PMID:Al-Hamed 2014:24559376}" "" "BBS5 c.966dupT, p.(Ala323CysfsX57)" "homozygous" "Germline" "yes" "" "0" "" "" "g.169504522dup" "" "likely pathogenic" "" "0000879989" "3" "70" "2" "170361032" "170361032" "dup" "0" "00000" "BBS5_000050" "g.170361032dup" "0/100 normal controls from a Saudi Arabian population" "{PMID:Al-Hamed 2014:24559376}" "" "BBS5 c.966dupT, p.(Ala323CysfsX57)" "homozygous" "Germline" "yes" "" "0" "" "" "g.169504522dup" "" "likely pathogenic" "" "0000879990" "3" "70" "2" "170361032" "170361032" "dup" "0" "00000" "BBS5_000050" "g.170361032dup" "0/100 normal controls from a Saudi Arabian population" "{PMID:Al-Hamed 2014:24559376}" "" "BBS5 c.966dupT, p.(Ala323CysfsX57)" "homozygous" "Germline" "yes" "" "0" "" "" "g.169504522dup" "" "likely pathogenic" "" "0000879997" "3" "70" "2" "170343646" "170343646" "subst" "0" "00000" "BBS5_000068" "g.170343646T>C" "" "{PMID:Imani 2019:30850397}" "" "BBS5 c.208+2T>C" "homozygous" "Germline" "yes" "" "0" "" "" "g.169487136T>C" "" "likely pathogenic" "" "0000879998" "3" "70" "2" "170343646" "170343646" "subst" "0" "00000" "BBS5_000068" "g.170343646T>C" "" "{PMID:Imani 2019:30850397}" "" "BBS5 c.208+2T>C" "homozygous" "Germline" "yes" "" "0" "" "" "g.169487136T>C" "" "likely pathogenic" "" "0000880163" "3" "90" "2" "170338824" "170338824" "del" "0" "00006" "BBS5_000006" "g.170338824del" "" "{PMID:Smaoui 2006:16877420}" "" "123delA" "" "Germline" "" "" "0" "" "" "g.169482314del" "" "pathogenic (recessive)" "" "0000880179" "0" "10" "2" "170336024" "170336024" "=" "0" "00006" "BBS5_000072" "g.170336024=" "3/19 families BBS" "{PMID:Smaoui 2006:16877420}" "" "NM_152384:c.1-40C>G" "" "Germline" "" "rs1879466" "0" "" "" "g.169479514=" "" "benign" "" "0000880180" "0" "10" "2" "170339003" "170339003" "subst" "0" "00006" "BBS5_000073" "g.170339003C>A" "2/19 families BBS" "{PMID:Smaoui 2006:16877420}" "" "" "" "Germline" "" "rs2353187" "0" "" "" "g.169482493C>A" "" "benign" "" "0000880181" "0" "10" "2" "170350485" "170350485" "subst" "0" "00006" "BBS5_000074" "g.170350485T>C" "2/19 families BBS" "{PMID:Smaoui 2006:16877420}" "" "" "" "Germline" "" "" "0" "" "" "g.169493975T>C" "" "benign" "" "0000880182" "0" "10" "2" "170354128" "170354128" "subst" "8.20459E-6" "00006" "BBS5_000075" "g.170354128T>C" "1/19 families BBS" "{PMID:Smaoui 2006:16877420}" "" "" "" "Germline" "" "" "0" "" "" "g.169497618T>C" "" "benign" "" "0000880183" "0" "10" "2" "170355944" "170355944" "subst" "0" "00006" "BBS5_000076" "g.170355944A>T" "5/19 families BBS" "{PMID:Smaoui 2006:16877420}" "" "" "" "Germline" "" "rs12692909" "0" "" "" "g.169499434A>T" "" "benign" "" "0000880184" "0" "10" "2" "170360764" "170360764" "subst" "0" "00006" "BBS5_000077" "g.170360764C>G" "14/19 families BBS" "{PMID:Smaoui 2006:16877420}" "" "" "" "Germline" "" "" "0" "" "" "g.169504254C>G" "" "benign" "" "0000883913" "0" "90" "2" "170338824" "170338824" "del" "0" "02326" "BBS5_000006" "g.170338824del" "" "" "" "BBS5(NM_152384.3):c.123delA (p.G42Efs*11)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000883914" "0" "10" "2" "170344523" "170344523" "subst" "0.00225533" "02326" "BBS5_000034" "g.170344523C>T" "" "" "" "BBS5(NM_152384.3):c.285C>T (p.L95=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000883915" "0" "10" "2" "170349498" "170349498" "subst" "0.00225871" "02326" "BBS5_000015" "g.170349498T>A" "" "" "" "BBS5(NM_152384.3):c.501T>A (p.V167=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000883916" "0" "30" "2" "170366972" "170366972" "subst" "0.00198812" "02326" "BBS5_000079" "g.170366972A>C" "" "" "" "KLHL41(NM_006063.3):c.684A>C (p.T228=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000897173" "11" "90" "2" "170343578" "170343578" "subst" "0" "00000" "BBS5_000078" "g.170343578G>A" "" "{PMID:Torrefranca 2020:32811249}" "" "BBS5 c.143-1 G > A (splice acceptor)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.169487068G>A" "" "pathogenic" "" "0000897174" "11" "90" "2" "170343578" "170343578" "subst" "0" "00000" "BBS5_000078" "g.170343578G>A" "" "{PMID:Torrefranca 2020:32811249}" "" "BBS5 c.143-1 G > A (splice acceptor)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.169487068G>A" "" "pathogenic" "" "0000897175" "21" "90" "2" "170360991" "170360997" "del" "0" "00000" "BBS5_000025" "g.170360991_170360997del" "" "{PMID:Torrefranca 2020:32811249}" "" "BBS5 c.925_931del, (p.Gln309Ilefs*14)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.169504481_169504487del" "" "pathogenic" "" "0000897176" "21" "90" "2" "170360991" "170360997" "del" "0" "00000" "BBS5_000025" "g.170360991_170360997del" "" "{PMID:Torrefranca 2020:32811249}" "" "BBS5 c.925_931del, (p.Gln309Ilefs*14)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.169504481_169504487del" "" "pathogenic" "" "0000911248" "0" "30" "2" "170366296" "170366296" "subst" "0.00964862" "01804" "KLHL41_000012" "g.170366296C>T" "" "" "" "KLHL41(NM_006063.2):c.8C>T (p.(Ser3Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000923343" "0" "90" "2" "170344326" "170344326" "subst" "0" "02326" "BBS5_000080" "g.170344326C>G" "" "" "" "BBS5(NM_152384.3):c.219C>G (p.Y73*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000933494" "3" "90" "2" "170343578" "170343578" "subst" "3.65871E-5" "04552" "BBS5_000066" "g.170343578G>C" "" "Villafuerte-de la Cruz RA, et al., 2023. Submitted" "" "" "" "Germline" "yes" "rs1054138918" "0" "" "" "g.169487068G>C" "{CV:569727}" "pathogenic (recessive)" "ACMG" "0000958860" "3" "50" "2" "170343574" "170343578" "ins" "0" "00006" "SNRNP200_000007" "g.170343574_170343578insN[(400_500)]" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2" "Germline" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000959021" "0" "90" "2" "170354136" "170354136" "subst" "1.63003E-5" "00006" "BBS5_000023" "g.170354136G>C" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1_STRONG, PP5_STRONG; no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.169497626G>C" "" "pathogenic (recessive)" "ACMG" "0000974466" "0" "30" "2" "170349380" "170349380" "subst" "8.24266E-6" "01804" "BBS5_000013" "g.170349380A>G" "" "" "" "BBS5(NM_152384.2):c.387-4A>G, BBS5(NM_152384.3):c.387-4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000974467" "0" "50" "2" "170356065" "170356065" "subst" "0.00107646" "01804" "BBS5_000017" "g.170356065A>G" "" "" "" "BBS5(NM_152384.2):c.751A>G (p.N251D), BBS5(NM_152384.3):c.751A>G (p.N251D, p.(Asn251Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001032519" "0" "50" "2" "170336088" "170336088" "subst" "0" "01804" "BBS5_000021" "g.170336088G>A" "" "" "" "BBS5(NM_152384.3):c.25G>A (p.(Glu9Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001032520" "0" "70" "2" "170344314" "170344314" "subst" "1.21979E-5" "01804" "BBS5_000007" "g.170344314A>G" "" "" "" "BBS5(NM_152384.2):c.209-2A>G, BBS5(NM_152384.3):c.209-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001032521" "0" "50" "2" "170344603" "170344603" "subst" "4.07415E-6" "01804" "BBS5_000081" "g.170344603C>T" "" "" "" "BBS5(NM_152384.3):c.365C>T (p.(Thr122Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001032522" "0" "90" "2" "170354136" "170354136" "subst" "1.63003E-5" "01804" "BBS5_000023" "g.170354136G>C" "" "" "" "BBS5(NM_152384.3):c.619-1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001050875" "0" "50" "2" "170338811" "170338811" "subst" "3.65696E-5" "01804" "BBS5_000082" "g.170338811T>C" "" "" "" "BBS5(NM_152384.3):c.110T>C (p.(Ile37Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001050876" "0" "50" "2" "170343639" "170343639" "subst" "4.47409E-5" "01804" "BBS5_000083" "g.170343639A>G" "" "" "" "BBS5(NM_152384.3):c.203A>G (p.(Asn68Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001050877" "0" "50" "2" "170350288" "170350288" "subst" "0" "01804" "BBS5_000084" "g.170350288T>C" "" "" "" "BBS5(NM_152384.3):c.560T>C (p.(Ile187Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001050878" "0" "50" "2" "170350338" "170350338" "subst" "4.0703E-6" "01804" "BBS5_000085" "g.170350338C>A" "" "" "" "BBS5(NM_152384.3):c.610C>A (p.(Leu204Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## 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 BBS5 ## Count = 202 "{{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}}" "0000019541" "00003291" "75" "148" "0" "148" "0" "c.148C>A" "r.(?)" "p.(Leu50Ile)" "3" "0000094917" "00003291" "90" "734" "0" "744" "0" "c.734_744del" "r.(?)" "p.(Asp245Glyfs*18)" "9" "0000094918" "00003291" "90" "734" "0" "744" "0" "c.734_744del" "r.(?)" "p.(Asp245Glyfs*18)" "9" "0000094919" "00003291" "90" "734" "0" "744" "0" "c.734_744del" "r.(?)" "p.(Asp245Glyfs*18)" "9" "0000245743" "00003291" "30" "751" "0" "751" "0" "c.751A>G" "r.(?)" "p.(Asn251Asp)" "" "0000246005" "00003291" "90" "123" "0" "123" "0" "c.123del" "r.(?)" "p.(Gly42GlufsTer11)" "" "0000251756" "00003291" "30" "751" "0" "751" "0" "c.751A>G" "r.(?)" "p.(Asn251Asp)" "" "0000252612" "00003291" "90" "209" "-2" "209" "-2" "c.209-2A>G" "r.spl?" "p.?" "" "0000255194" "00003291" "30" "387" "-4" "387" "-4" "c.387-4A>G" "r.spl?" "p.?" "" "0000258606" "00003291" "10" "387" "-15" "387" "-12" "c.387-15_387-12del" "r.(=)" "p.(=)" "" "0000258607" "00003291" "70" "681" "1" "681" "1" "c.681+1G>T" "r.spl?" "p.?" "" "0000260359" "00003291" "90" "214" "0" "214" "0" "c.214G>A" "r.(?)" "p.(Gly72Ser)" "" "0000261414" "00003291" "90" "265" "0" "265" "0" "c.265C>T" "r.(?)" "p.(Arg89Ter)" "" "0000261415" "00003291" "10" "308" "0" "308" "0" "c.308G>A" "r.(?)" "p.(Ser103Asn)" "" "0000261416" "00003291" "90" "425" "0" "425" "0" "c.425T>G" "r.(?)" "p.(Leu142Ter)" "" "0000263592" "00003291" "30" "259" "-3" "259" "-3" "c.259-3C>T" "r.spl?" "p.?" "" "0000263593" "00003291" "30" "681" "19" "681" "19" "c.681+19T>C" "r.(=)" "p.(=)" "" "0000327502" "00003291" "50" "92" "0" "92" "0" "c.92T>C" "r.(?)" "p.(Ile31Thr)" "" "0000327504" "00003291" "50" "6853" "0" "6854" "0" "c.*5827_*5828del" "r.(=)" "p.(=)" "" "0000337337" "00003291" "10" "-40" "0" "-40" "0" "c.-40G>C" "r.(?)" "p.(=)" "" "0000337338" "00003291" "90" "209" "-2" "209" "-2" "c.209-2A>G" "r.spl?" "p.?" "" "0000337339" "00003291" "90" "258" "2" "258" "2" "c.258+2T>C" "r.spl?" "p.?" "" "0000339082" "00003291" "70" "974" "0" "974" "0" "c.974A>G" "r.(?)" "p.(Glu325Gly)" "" "0000342022" "00003291" "50" "6703" "0" "6703" "0" "c.*5677C>T" "r.(=)" "p.(=)" "" "0000345615" "00003291" "50" "25" "0" "25" "0" "c.25G>A" "r.(?)" "p.(Glu9Lys)" "" "0000345924" "00003291" "90" "790" "0" "790" "0" "c.790G>A" "r.(?)" "p.(Gly264Arg)" "" "0000346687" "00003291" "50" "92" "0" "92" "0" "c.92T>C" "r.(?)" "p.(Ile31Thr)" "" "0000347687" "00003291" "90" "2" "0" "2" "0" "c.2T>C" "r.(?)" "p.(Met1?)" "" "0000350972" "00003291" "90" "619" "-1" "619" "-1" "c.619-1G>C" "r.spl?" "p.?" "" "0000370538" "00003291" "70" "543" "0" "543" "0" "c.543del" "r.(?)" "p.(Phe181Leufs*5)" "" "0000370539" "00003291" "70" "412" "0" "412" "0" "c.412C>T" "r.(?)" "p.(Arg138Cys)" "" "0000510221" "00003291" "10" "60" "-176" "60" "-176" "c.60-176dup" "r.(=)" "p.(=)" "" "0000510222" "00003291" "30" "60" "-3" "60" "-3" "c.60-3T>C" "r.spl?" "p.?" "" "0000510223" "00003291" "10" "108" "0" "108" "0" "c.108C>T" "r.(?)" "p.(Ser36=)" "" "0000510225" "00003291" "50" "178" "0" "178" "0" "c.178C>T" "r.(?)" "p.(His60Tyr)" "" "0000510227" "00003291" "90" "425" "0" "425" "0" "c.425T>G" "r.(?)" "p.(Leu142Ter)" "" "0000510228" "00003291" "30" "551" "0" "551" "0" "c.551A>G" "r.(?)" "p.(Asn184Ser)" "" "0000510229" "00003291" "50" "551" "0" "551" "0" "c.551A>G" "r.(?)" "p.(Asn184Ser)" "" "0000510230" "00003291" "30" "551" "0" "551" "0" "c.551A>G" "r.(?)" "p.(Asn184Ser)" "" "0000510231" "00003291" "30" "551" "0" "551" "0" "c.551A>G" "r.(?)" "p.(Asn184Ser)" "" "0000510233" "00003291" "30" "620" "0" "620" "0" "c.620G>A" "r.(?)" "p.(Arg207His)" "" "0000510235" "00003291" "50" "751" "0" "751" "0" "c.751A>G" "r.(?)" "p.(Asn251Asp)" "" "0000606347" "00003291" "50" "708" "0" "708" "0" "c.708A>G" "r.(?)" "p.(Lys236=)" "" "0000606348" "00003291" "10" "750" "0" "750" "0" "c.750C>T" "r.(?)" "p.(Ile250=)" "" "0000638715" "00003291" "90" "682" "-2" "682" "-2" "c.682-2A>G" "r.spl" "p.?" "" "0000650221" "00003291" "50" "551" "0" "551" "0" "c.551A>G" "r.(?)" "p.(Asn184Ser)" "" "0000676112" "00003291" "70" "209" "-2" "209" "-2" "c.209-2A>G" "r.spl?" "p.?" "" "0000685024" "00003291" "90" "619" "-1" "619" "-1" "c.619-1G>C" "r.spl" "p.?" "" "0000688399" "00003291" "90" "817" "-1" "817" "-1" "c.817-1G>C" "r.spl?" "p.?" "" "0000688400" "00003291" "30" "6620" "0" "6620" "0" "c.*5594G>A" "r.(=)" "p.(=)" "" "0000713346" "00003291" "70" "412" "0" "412" "0" "c.412C>T" "r.(?)" "p.(Arg138Cys)" "" "0000713728" "00003291" "70" "551" "0" "551" "0" "c.551A>G" "r.(?)" "p.(Asn184Ser)" "" "0000713729" "00003291" "70" "900" "0" "900" "0" "c.900G>C" "r.(=)" "p.(=)" "" "0000717985" "00003291" "50" "142" "0" "142" "0" "c.142G>A" "r.(?)" "p.(Gly48Ser)" "" "0000717986" "00003291" "50" "185" "0" "185" "0" "c.185T>C" "r.(?)" "p.(Leu62Ser)" "" "0000717987" "00003291" "10" "620" "0" "620" "0" "c.620G>A" "r.(?)" "p.(Arg207His)" "" "0000731496" "00003291" "50" "551" "0" "551" "0" "c.551A>G" "r.(?)" "p.(Asn184Ser)" "" "0000735591" "00003291" "90" "209" "-2" "209" "-2" "c.209-2A>G" "r.spl" "p.?" "" "0000735592" "00003291" "90" "209" "-2" "209" "-2" "c.209-2A>G" "r.spl" "p.?" "" "0000735718" "00003291" "90" "209" "-2" "209" "-2" "c.209-2A>G" "r.spl" "p.?" "" "0000735719" "00003291" "90" "258" "2" "258" "2" "c.258+2T>C" "r.spl" "p.?" "" "0000759709" "00003291" "50" "584" "0" "584" "0" "c.584A>G" "r.(?)" "p.(Asp195Gly)" "" "0000759712" "00003291" "50" "551" "0" "551" "0" "c.551A>G" "r.(?)" "p.(Asn184Ser)" "" "0000759720" "00003291" "90" "682" "-801" "4888" "0" "c.682-801_*3862del" "r.?" "p.?" "" "0000760232" "00003291" "70" "2" "0" "2" "0" "c.2T>A" "r.(?)" "p.(Met1?)" "" "0000764110" "00003291" "30" "522" "317" "522" "317" "c.522+317A>G" "r.?" "p.?" "6i" "0000764913" "00003291" "70" "790" "0" "790" "0" "c.790G>A" "r.(?)" "p.(Gly264Arg)" "" "0000765871" "00003291" "70" "966" "0" "966" "0" "c.966dup" "r.(?)" "p.(Ala323CysfsTer57)" "" "0000765886" "00003291" "70" "955" "0" "957" "0" "c.955_957del" "r.(?)" "p.(Glu319del)" "" "0000793701" "00003291" "90" "2" "0" "2" "0" "c.2T>A" "r.?" "p.?" "1" "0000793702" "00003291" "90" "2" "0" "2" "0" "c.2T>A" "r.?" "p.?" "1" "0000795032" "00003291" "90" "551" "0" "551" "0" "c.551A>G" "r.(?)" "p.(Asn184Ser)" "7" "0000795054" "00003291" "90" "149" "0" "149" "0" "c.149T>G" "r.(?)" "p.(Leu50Arg)" "3" "0000796922" "00003291" "90" "148" "0" "148" "0" "c.148C>A" "r.(?)" "p.(Leu50Ile)" "3" "0000797525" "00003291" "70" "214" "0" "214" "0" "c.214G>A" "r.(?)" "p.(Gly72Ser)" "" "0000798449" "00003291" "70" "551" "0" "551" "0" "c.551A>G" "r.(?)" "p.(Asn184Ser)" "7" "0000799837" "00003291" "30" "60" "-3" "60" "-3" "c.60-3T>C" "r.spl?" "p.?" "" "0000799838" "00003291" "50" "226" "0" "226" "0" "c.226A>G" "r.(?)" "p.(Ile76Val)" "" "0000799839" "00003291" "30" "450" "0" "450" "0" "c.450G>A" "r.(?)" "p.(Lys150=)" "" "0000810979" "00003291" "50" "413" "0" "413" "0" "c.413G>A" "r.(?)" "p.(Arg138His)" "6" "0000811119" "00003291" "90" "1" "0" "1" "0" "c.1A>T" "r.?" "p.?" "1" "0000811120" "00003291" "90" "123" "0" "123" "0" "c.123del" "r.(?)" "p.(Gly42Glufs*11)" "2" "0000811121" "00003291" "90" "166" "0" "166" "0" "c.166A>G" "r.(?)" "p.(Arg56Gly)" "3" "0000811453" "00003291" "70" "551" "0" "551" "0" "c.551A>G" "r.(?)" "p.(Asn184Ser)" "" "0000811454" "00003291" "70" "412" "0" "412" "0" "c.412C>T" "r.(?)" "p.(Arg138Cys)" "" "0000811457" "00003291" "70" "543" "0" "543" "0" "c.543del" "r.(?)" "p.(Phe181Leufs*5)" "" "0000811761" "00003291" "70" "196" "0" "196" "0" "c.196del" "r.(?)" "p.(Arg66Glufs*12)" "" "0000811762" "00003291" "70" "196" "0" "196" "0" "c.196del" "r.(?)" "p.(Arg66Glufs*12)" "" "0000812989" "00003291" "50" "551" "0" "551" "0" "c.551A>G" "r.(?)" "p.(Asn184Ser)" "" "0000813067" "00003291" "70" "889" "0" "889" "0" "c.889G>A" "r.(?)" "p.(Glu297Lys)" "11" "0000813068" "00003291" "70" "619" "-1" "619" "-1" "c.619-1G>C" "r.spl?" "p.?" "7i" "0000813069" "00003291" "70" "54" "0" "54" "0" "c.54dup" "r.(?)" "p.(Ala19Argfs*14)" "1" "0000813070" "00003291" "70" "619" "-1" "619" "-1" "c.619-1G>C" "r.spl?" "p.?" "7i" "0000813119" "00003291" "50" "551" "0" "551" "0" "c.551A>G" "r.(?)" "p.(Asn184Ser)" "7" "0000813257" "00003291" "50" "132" "0" "132" "0" "c.132T>G" "r.(?)" "p.(Asn44Lys)" "2" "0000813326" "00003291" "70" "158" "0" "158" "0" "c.158C>T" "r.(?)" "p.(Thr53Ile)" "3" "0000813876" "00003291" "70" "2" "0" "2" "0" "c.2T>A" "r.(?)" "p.(Met1?)" "" "0000813877" "00003291" "70" "2" "0" "2" "0" "c.2T>A" "r.(?)" "p.(Met1?)" "" "0000813966" "00003291" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "" "0000813967" "00003291" "90" "149" "0" "149" "0" "c.149T>G" "r.(?)" "p.(Leu50Arg)" "3" "0000813999" "00003291" "90" "413" "0" "413" "0" "c.413G>A" "r.(?)" "p.(Arg138His)" "6" "0000814019" "00003291" "90" "149" "0" "149" "0" "c.149T>G" "r.(?)" "p.(Leu50Arg)" "3" "0000814024" "00003291" "50" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "" "0000814025" "00003291" "90" "565" "0" "565" "0" "c.565C>T" "r.(?)" "p.?" "7" "0000814060" "00003291" "90" "149" "0" "149" "0" "c.149T>G" "r.(?)" "p.(Leu50Arg)" "3" "0000814070" "00003291" "70" "551" "0" "551" "0" "c.551A>G" "r.(?)" "p.(Asn184Ser)" "7" "0000814098" "00003291" "50" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "" "0000814099" "00003291" "50" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "" "0000814100" "00003291" "50" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "" "0000814101" "00003291" "50" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "" "0000814168" "00003291" "70" "214" "0" "214" "0" "c.214G>A" "r.(?)" "p.(Gly72Ser)" "4" "0000814169" "00003291" "70" "387" "-618" "387" "-618" "c.387-618del232" "r.(?)" "p.?" "5i" "0000814186" "00003291" "70" "551" "0" "551" "0" "c.551A>G" "r.(?)" "p.(Asn184Ser)" "7" "0000814249" "00003291" "70" "751" "0" "751" "0" "c.751A>G" "r.(?)" "p.(Lys251Glu)" "8" "0000814516" "00003291" "90" "214" "0" "214" "0" "c.214G>A" "r.(?)" "p.(Gly72Ser)" "4" "0000814581" "00003291" "70" "551" "0" "551" "0" "c.551A>G" "r.(?)" "p.(Asn184Ser)" "7" "0000814582" "00003291" "70" "551" "0" "551" "0" "c.551A>G" "r.(?)" "p.(Asn184Ser)" "7" "0000817561" "00003291" "50" "1" "0" "1" "0" "c.1A>Y" "r.?" "p.?" "1" "0000817580" "00003291" "30" "619" "-27" "619" "-27" "c.619-27T>G" "r.(=)" "p.(=)" "7i" "0000817581" "00003291" "30" "265" "0" "265" "0" "c.265C>T" "r.(?)" "p.(Arg89*)" "5" "0000817582" "00003291" "90" "619" "-27" "619" "-27" "c.619-27T>G" "r.(=)" "p.(=)" "7i" "0000817583" "00003291" "90" "265" "0" "265" "0" "c.265C>T" "r.(?)" "p.(Arg89*)" "5" "0000818983" "00003291" "50" "0" "0" "0" "0" "c.-118_*2073{2}" "r.?" "p.?" "_1_12_" "0000819014" "00003291" "70" "265" "0" "265" "0" "c.265C>T" "r.(?)" "p.(Arg89*)" "" "0000819015" "00003291" "70" "265" "0" "265" "0" "c.265C>T" "r.(?)" "p.(Arg89*)" "" "0000819027" "00003291" "70" "619" "-27" "619" "-27" "c.619-27T>G" "r.spl?" "p.(?)" "" "0000819028" "00003291" "70" "619" "-27" "619" "-27" "c.619-27T>G" "r.spl?" "p.(?)" "" "0000819428" "00003291" "70" "143" "-4" "143" "-3" "c.143-4_143-3ins440bp" "r.spl?" "p.(?)" "" "0000819429" "00003291" "70" "143" "-4" "143" "-3" "c.143-4_143-3ins440bp" "r.spl?" "p.(?)" "" "0000820359" "00003291" "70" "790" "0" "790" "0" "c.790G>A" "r.(?)" "p.(Gly264Arg)" "" "0000821164" "00003291" "70" "412" "0" "412" "0" "c.412C>T" "r.(?)" "p.(Arg138Cys)" "" "0000821527" "00003291" "70" "551" "0" "551" "0" "c.551A>G" "r.(?)" "p.(Asn184Ser)" "" "0000822054" "00003291" "70" "214" "0" "214" "0" "c.214G>A" "r.(?)" "p.(Gly72Ser)" "" "0000822055" "00003291" "70" "123" "0" "123" "0" "c.123del" "r.(?)" "p.(Gly42Glufs*11)" "" "0000822084" "00003291" "70" "551" "0" "551" "0" "c.551A>G" "r.(?)" "p.(Asn184Ser)" "7" "0000822175" "00003291" "90" "425" "0" "425" "0" "c.425T>G" "r.(?)" "p.(Leu142*)" "6" "0000822754" "00003291" "70" "682" "-2" "682" "-2" "c.682-2A>G" "r.spl" "p.(?)" "" "0000822755" "00003291" "70" "682" "-2" "682" "-2" "c.682-2A>G" "r.spl" "p.(?)" "" "0000828513" "00003291" "50" "551" "0" "551" "0" "c.551A>G" "r.(?)" "p.(Asn184Ser)" "" "0000828516" "00003291" "70" "143" "-1" "143" "-1" "c.143-1G>C" "r.spl" "p.(?)" "" "0000828536" "00003291" "50" "620" "0" "620" "0" "c.620G>A" "r.(?)" "p.(Arg207His)" "" "0000830030" "00003291" "90" "166" "0" "166" "0" "c.166A>G" "r.(?)" "p.(Arg56Gly)" "3" "0000830031" "00003291" "90" "166" "0" "166" "0" "c.166A>G" "r.(?)" "p.(Arg56Gly)" "3" "0000830032" "00003291" "90" "123" "0" "123" "0" "c.123del" "r.(?)" "p.(Gly42Glufs*11)" "2" "0000830033" "00003291" "90" "123" "0" "123" "0" "c.123del" "r.(?)" "p.(Gly42Glufs*11)" "2" "0000849074" "00003291" "70" "209" "-2" "209" "-2" "c.209-2A>G" "r.spl?" "p.?" "" "0000857865" "00003291" "30" "387" "-15" "387" "-12" "c.387-15_387-12del" "r.(=)" "p.(=)" "" "0000871363" "00003291" "70" "734" "0" "744" "0" "c.734_744del" "r.(?)" "p.(Glu245Glyfs*18)" "" "0000871364" "00003291" "70" "734" "0" "744" "0" "c.734_744del" "r.(?)" "p.(Glu245Glyfs*18)" "" "0000871365" "00003291" "70" "734" "0" "744" "0" "c.734_744del" "r.(?)" "p.(Glu245Glyfs*18)" "" "0000878682" "00003291" "70" "966" "0" "966" "0" "c.966dup" "r.(?)" "p.(Ala323Cysfs*57)" "" "0000878683" "00003291" "70" "966" "0" "966" "0" "c.966dup" "r.(?)" "p.(Ala323Cysfs*57)" "" "0000878684" "00003291" "70" "966" "0" "966" "0" "c.966dup" "r.(?)" "p.(Ala323Cysfs*57)" "" "0000878685" "00003291" "70" "966" "0" "966" "0" "c.966dup" "r.(?)" "p.(Ala323Cysfs*57)" "" "0000879951" "00003291" "70" "522" "3" "522" "3" "c.522+3A>G" "r.(?)" "p.?" "" "0000879952" "00003291" "70" "522" "3" "522" "3" "c.522+3A>G" "r.(?)" "p.?" "" "0000879953" "00003291" "70" "425" "0" "425" "0" "c.425T>A" "r.(?)" "p.(Leu142Ter)" "" "0000879954" "00003291" "70" "425" "0" "425" "0" "c.425T>A" "r.(?)" "p.(Leu142Ter)" "" "0000879955" "00003291" "70" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "" "0000879956" "00003291" "70" "177" "0" "177" "0" "c.177G>A" "r.(?)" "p.(Trp59Ter)" "" "0000879957" "00003291" "70" "551" "0" "551" "0" "c.551A>G" "r.(?)" "p.(Asn184Ser)" "" "0000879959" "00003291" "70" "551" "0" "551" "0" "c.551A>G" "r.(?)" "p.(Asn184Ser)" "" "0000879961" "00003291" "90" "214" "0" "214" "0" "c.214G>A" "r.(?)" "p.(Gly72Ser)" "4" "0000879962" "00003291" "90" "214" "0" "214" "0" "c.214G>A" "r.(?)" "p.(Gly72Ser)" "4" "0000879963" "00003291" "90" "214" "0" "214" "0" "c.214G>A" "r.(?)" "p.(Gly72Ser)" "4" "0000879964" "00003291" "90" "214" "0" "214" "0" "c.214G>A" "r.(?)" "p.(Gly72Ser)" "4" "0000879965" "00003291" "90" "547" "0" "547" "0" "c.547A> G" "r.(?)" "p.(Thr183Ala)" "7" "0000879988" "00003291" "70" "966" "0" "966" "0" "c.966dup" "r.(?)" "p.(Ala323Cysfs*57)" "12" "0000879989" "00003291" "70" "966" "0" "966" "0" "c.966dup" "r.(?)" "p.(Ala323CysfsX57)" "12" "0000879990" "00003291" "70" "966" "0" "966" "0" "c.966dup" "r.(?)" "p.(Ala323CysfsX57)" "12" "0000879997" "00003291" "70" "208" "2" "208" "2" "c.208+2T>C" "r.(?)" "p.?" "12" "0000879998" "00003291" "70" "208" "2" "208" "2" "c.208+2T>C" "r.(?)" "p.?" "12" "0000880163" "00003291" "90" "123" "0" "123" "0" "c.123del" "r.(?)" "p.(Gly42Glufs*11)" "" "0000880179" "00003291" "10" "-40" "0" "-40" "0" "c.-40=" "r.(?)" "p.(=)" "" "0000880180" "00003291" "10" "142" "160" "142" "160" "c.142+160C>A" "r.(?)" "p.(=)" "" "0000880181" "00003291" "10" "618" "139" "618" "139" "c.618+139T>C" "r.(?)" "p.(=)" "" "0000880182" "00003291" "10" "619" "-9" "619" "-9" "c.619-9T>C" "r.(?)" "p.(=)" "" "0000880183" "00003291" "10" "682" "-52" "682" "-52" "c.682-52A>T" "r.(?)" "p.(=)" "" "0000880184" "00003291" "10" "901" "-49" "901" "-49" "c.901-49C>G" "r.(?)" "p.(=)" "" "0000883913" "00003291" "90" "123" "0" "123" "0" "c.123del" "r.(?)" "p.(Gly42GlufsTer11)" "" "0000883914" "00003291" "10" "285" "0" "285" "0" "c.285C>T" "r.(?)" "p.(Leu95=)" "" "0000883915" "00003291" "10" "501" "0" "501" "0" "c.501T>A" "r.(?)" "p.(Val167=)" "" "0000883916" "00003291" "30" "6906" "0" "6906" "0" "c.*5880A>C" "r.(=)" "p.(=)" "" "0000897173" "00003291" "90" "143" "-1" "143" "-1" "c.143-1G>A" "r.(?)" "p.?" "" "0000897174" "00003291" "90" "143" "-1" "143" "-1" "c.143-1G>A" "r.(?)" "p.?" "" "0000897175" "00003291" "90" "925" "0" "931" "0" "c.925_931del" "r.(?)" "p.(Gln309Ilefs*14)" "" "0000897176" "00003291" "90" "925" "0" "931" "0" "c.925_931del" "r.(?)" "p.(Gln309Ilefs*14)" "" "0000911248" "00003291" "30" "6230" "0" "6230" "0" "c.*5204C>T" "r.(=)" "p.(=)" "" "0000923343" "00003291" "90" "219" "0" "219" "0" "c.219C>G" "r.(?)" "p.(Tyr73*)" "" "0000933494" "00003291" "90" "143" "-1" "143" "-1" "c.143-1G>C" "r.spl" "p.?" "" "0000958860" "00003291" "50" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000959021" "00003291" "90" "619" "-1" "619" "-1" "c.619-1G>C" "r.spl" "p.?" "" "0000974466" "00003291" "30" "387" "-4" "387" "-4" "c.387-4A>G" "r.spl?" "p.?" "" "0000974467" "00003291" "50" "751" "0" "751" "0" "c.751A>G" "r.(?)" "p.(Asn251Asp)" "" "0001032519" "00003291" "50" "25" "0" "25" "0" "c.25G>A" "r.(?)" "p.(Glu9Lys)" "" "0001032520" "00003291" "70" "209" "-2" "209" "-2" "c.209-2A>G" "r.spl?" "p.?" "" "0001032521" "00003291" "50" "365" "0" "365" "0" "c.365C>T" "r.(?)" "p.(Thr122Ile)" "" "0001032522" "00003291" "90" "619" "-1" "619" "-1" "c.619-1G>C" "r.spl?" "p.?" "" "0001050875" "00003291" "50" "110" "0" "110" "0" "c.110T>C" "r.(?)" "p.(Ile37Thr)" "" "0001050876" "00003291" "50" "203" "0" "203" "0" "c.203A>G" "r.(?)" "p.(Asn68Ser)" "" "0001050877" "00003291" "50" "560" "0" "560" "0" "c.560T>C" "r.(?)" "p.(Ile187Thr)" "" "0001050878" "00003291" "50" "610" "0" "610" "0" "c.610C>A" "r.(?)" "p.(Leu204Met)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 137 "{{screeningid}}" "{{variantid}}" "0000001626" "0000019541" "0000063961" "0000094917" "0000063962" "0000094918" "0000063963" "0000094919" "0000166106" "0000370538" "0000166106" "0000370539" "0000277471" "0000638715" "0000293532" "0000650221" "0000310113" "0000685024" "0000329223" "0000713346" "0000329223" "0000713728" "0000329223" "0000713729" "0000333733" "0000731496" "0000336316" "0000735591" "0000336316" "0000735718" "0000336317" "0000735592" "0000336317" "0000735719" "0000360041" "0000759709" "0000360042" "0000759712" "0000360046" "0000759720" "0000360340" "0000760232" "0000363455" "0000764110" "0000364151" "0000764913" "0000364929" "0000765871" "0000364944" "0000765886" "0000380558" "0000793701" "0000380559" "0000793702" "0000381567" "0000795032" "0000381578" "0000795054" "0000382946" "0000796922" "0000383432" "0000797525" "0000384024" "0000798449" "0000384360" "0000810979" "0000384459" "0000811119" "0000384460" "0000811120" "0000384461" "0000811121" "0000384691" "0000811453" "0000384692" "0000811454" "0000384692" "0000811457" "0000384924" "0000811761" "0000384925" "0000811762" "0000385832" "0000812989" "0000385901" "0000813067" "0000385902" "0000813068" "0000385903" "0000813069" "0000385903" "0000813070" "0000385935" "0000813119" "0000386029" "0000813257" "0000386064" "0000813326" "0000386383" "0000813876" "0000386384" "0000813877" "0000386446" "0000813966" "0000386447" "0000813967" "0000386466" "0000813999" "0000386479" "0000814019" "0000386482" "0000814024" "0000386483" "0000814025" "0000386512" "0000814070" "0000386513" "0000814060" "0000386531" "0000814098" "0000386532" "0000814099" "0000386533" "0000814100" "0000386534" "0000814101" "0000386573" "0000814168" "0000386574" "0000814169" "0000386586" "0000814186" "0000386616" "0000814249" "0000386787" "0000814516" "0000386826" "0000814581" "0000386827" "0000814582" "0000388803" "0000817561" "0000388821" "0000817580" "0000388821" "0000817581" "0000388822" "0000817582" "0000388822" "0000817583" "0000389748" "0000818983" "0000389770" "0000819014" "0000389770" "0000819027" "0000389771" "0000819015" "0000389771" "0000819028" "0000390083" "0000819428" "0000390084" "0000819429" "0000391014" "0000820359" "0000391415" "0000821164" "0000391415" "0000821527" "0000391981" "0000822054" "0000391982" "0000822055" "0000392047" "0000822084" "0000392073" "0000822175" "0000392454" "0000822754" "0000392455" "0000822755" "0000396824" "0000828513" "0000396826" "0000828516" "0000396841" "0000828536" "0000397820" "0000830030" "0000397820" "0000830031" "0000397822" "0000830032" "0000397822" "0000830033" "0000413818" "0000871363" "0000413819" "0000871364" "0000413820" "0000871365" "0000418815" "0000878682" "0000418816" "0000878683" "0000418817" "0000878684" "0000418818" "0000878685" "0000419786" "0000879951" "0000419787" "0000879952" "0000419788" "0000879953" "0000419789" "0000879954" "0000419790" "0000879955" "0000419791" "0000879956" "0000419792" "0000879957" "0000419793" "0000879959" "0000419794" "0000879961" "0000419795" "0000879962" "0000419796" "0000879963" "0000419797" "0000879964" "0000419798" "0000879965" "0000419820" "0000879988" "0000419821" "0000879989" "0000419822" "0000879990" "0000419827" "0000879997" "0000419828" "0000879998" "0000419939" "0000880163" "0000419955" "0000880179" "0000419956" "0000880180" "0000419957" "0000880181" "0000419958" "0000880182" "0000419959" "0000880183" "0000419960" "0000880184" "0000422223" "0000897173" "0000422223" "0000897175" "0000422224" "0000897174" "0000422224" "0000897176" "0000437990" "0000933494" "0000449093" "0000958860" "0000449254" "0000959021"