### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = BBS7) # 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}}" "BBS7" "Bardet-Biedl syndrome 7" "4" "q27" "unknown" "NG_009111.1" "UD_132118359839" "" "https://www.LOVD.nl/BBS7" "" "1" "18758" "55212" "607590" "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/BBS7_codingDNA.html" "1" "" "This database is one of the \"Eye disease\" gene variant databases." "-1" "" "-1" "00001" "2012-03-28 00:00:00" "00006" "2020-11-11 19:52:46" "00000" "2025-05-05 21:14:00" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00024045" "BBS7" "transcript variant 1" "001" "NM_176824.2" "" "NP_789794.1" "" "" "" "-184" "3679" "2148" "122791652" "122745484" "00006" "2015-07-10 21:04:23" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 8 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "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" "03242" "MACS" "MACS syndrome (MACS, macrocephaly, alopecia, cutis laxa, and scoliosis)" "AR" "613075" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "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" "04379" "BBS7" "Bardet-Biedl syndrome, type 7 (BBS-7)" "AR" "615984" "" "" "" "00000" "2015-09-23 10:25:22" "00006" "2021-12-10 21:51:32" "05895" "INF" "infertility" "" "" "" "" "" "00006" "2021-02-04 08:41:37" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "BBS7" "00139" "BBS7" "04379" ## Individuals ## Do not remove or alter this header ## ## Count = 114 "{{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}}" "00046459" "" "" "" "1" "" "01356" "" "" "" "" "Russian Federation" "" "0" "" "" "" "" "00050583" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "M" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00154972" "" "" "" "1" "" "01807" "" "" "F" "" "(Germany)" "" "0" "" "" "" "" "00239141" "" "" "" "5" "" "03312" "{PMID:Shaukat 2019:31521835}" "3-generation family, 5 affected (3F, 2M), unaffected heterozygous carrier parents/relatives\r\nheterozygous carriers" "M" "yes" "Pakistan" "" "0" "" "" "Asian" "FamPatIII2" "00265912" "" "" "00239141" "1" "" "03312" "{PMID:Shaukat 2019:31521835}" "" "F" "yes" "Pakistan" "" "0" "" "" "" "FamPatIII1" "00265913" "" "" "00239141" "1" "" "03312" "{PMID:Shaukat 2019:31521835}" "" "M" "yes" "Pakistan" "" "0" "" "" "" "FamPatIII3" "00265914" "" "" "00239141" "1" "" "03312" "{PMID:Shaukat 2019:31521835}" "" "F" "yes" "Pakistan" "" "0" "" "" "" "FamPatIII4" "00265915" "" "" "00239141" "1" "" "03312" "{PMID:Shaukat 2019:31521835}" "" "" "yes" "Pakistan" "" "0" "" "" "" "FamPatIII5" "00276326" "" "" "" "1" "" "03470" "" "" "M" "yes" "Turkey" "05y" "0" "" "" "" "" "00293530" "" "" "" "9" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293531" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293532" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304978" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00308969" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" "" "00308970" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" "" "00328504" "" "" "" "1" "" "00000" "{PMID:Taylor 2017:28341476}" "no family history retinal disease" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "15021050" "00358811" "" "" "" "1" "" "00000" "{PMID:Lindstrand 2016:27486776}" "" "M" "no" "United States" "" "0" "" "" "" "AR888-0311" "00358814" "" "" "" "1" "" "00000" "{PMID:Lindstrand 2016:27486776}" "" "F" "no" "United States" "" "0" "" "" "" "AR634-03" "00358817" "" "" "" "1" "" "00000" "{PMID:Lindstrand 2016:27486776}" "" "M" "no" "United States" "" "0" "" "" "" "44/311" "00358961" "" "" "" "1" "" "00000" "{PMID:Tiwari 2016:27353947}" "see paper" "F" "" "Switzerland" "" "0" "" "" "" "Case24058" "00359023" "" "" "" "1" "" "00000" "{PMID:Ellingford 2016:27208204}" "patient" "" "" "" "" "0" "" "" "" "12014789" "00363433" "" "" "" "1" "" "00000" "{PMID:Ece Solmaz 2015:26518167}" "patient" "" "" "Turkey" "" "0" "" "" "" "Pat9" "00363435" "" "" "" "1" "" "00000" "{PMID:Ece Solmaz 2015:26518167}" "patient" "" "" "Turkey" "" "0" "" "" "" "Pat11" "00363590" "" "" "" "1" "" "00000" "{PMID:Patel 2016:26355662}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "09DG00644" "00363599" "" "" "" "1" "" "00000" "{PMID:Patel 2016:26355662}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "09DG01063" "00373881" "" "" "" "1" "" "00000" "{PMID:Consugar 2015:25412400}" "" "" "" "United States" "" "0" "" "" "" "OGI-454-958" "00379360" "" "" "" "1" "" "00000" "{PMID:Harville-2010:19797195}" "" "" "no" "" "" "0" "" "" "North European" "" "00379361" "" "" "" "1" "" "00000" "{PMID:Harville-2010:19797195}" "" "" "no" "" "" "0" "" "" "North European" "" "00379362" "" "" "" "1" "" "00000" "{PMID:Harville-2010:19797195}" "" "" "yes" "Turkey" "" "0" "" "" "" "" "00379363" "" "" "" "1" "" "00000" "{PMID:Harville-2010:19797195}" "" "" "yes" "Turkey" "" "0" "" "" "" "" "00379364" "" "" "" "1" "" "00000" "{PMID:Harville-2010:19797195}" "" "" "yes" "Israel" "" "0" "" "" "Arab" "" "00379365" "" "" "" "1" "" "00000" "{PMID:Harville-2010:19797195}" "" "" "yes" "Israel" "" "0" "" "" "Arab" "" "00379812" "" "" "" "1" "" "00000" "{PMID:Wang 2018:30029497}" "" "M" "?" "China" "" "0" "" "" "Han Chinese" "2016082404" "00380352" "" "" "" "1" "" "00000" "{PMID:M\'hamdi_2014:23432027}" "" "M" "yes" "Tunisia" "" "0" "" "" "Tunisian" "" "00380355" "" "" "" "1" "" "00000" "{PMID:M\'hamdi_2014:23432027}" "" "M" "yes" "Tunisia" "" "0" "" "" "Tunisian" "" "00381017" "" "" "" "1" "" "00000" "{PMID:Chen-2013:23462753}" "" "F" "" "China" "" "0" "" "" "Chinese" "" "00381239" "" "" "" "1" "" "00008" "{PMID:Wang-2013:23847139}" "patient carry homozygous novel missense mutation in other retinal disease genes. BBS" "" "no" "" "" "0" "" "" "" "" "00382494" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "356" "00383117" "" "" "" "1" "" "00000" "{PMID:Hichri-2005:15770229}" "" "" "" "France" "" "0" "" "" "white" "" "00383194" "" "" "" "1" "" "00000" "{PMID:Bin-2009:19402160}" "" "F" "" "" "" "0" "" "" "Italian" "" "00383195" "" "" "" "1" "" "00000" "{PMID:Bin-2009:19402160}" "" "M" "" "" "" "0" "" "" "Italian" "" "00383196" "" "" "" "1" "" "00000" "{PMID:Bin-2009:19402160}" "" "F" "" "" "" "0" "" "" "Peruvian" "" "00383197" "" "" "" "1" "" "00000" "{PMID:Bin-2009:19402160}" "" "" "" "" "" "0" "" "" "Russian" "" "00383225" "" "" "" "1" "" "00000" "{PMID:Muller-2010:20177705}" "" "" "" "" "" "0" "" "" "white" "" "00383241" "" "" "" "1" "" "00000" "{PMID:Muller-2010:20177705}" "" "" "" "" "" "0" "" "" "white" "" "00383243" "" "" "" "3" "" "00000" "{PMID:Muller-2010:20177705}, {PMID:Stoetzel 2006:16308660}" "" "" "" "" "" "0" "" "" "North Africa" "" "00383375" "" "" "" "1" "" "00000" "{PMID:Eichers-2009:15224652}, Katsanis 2001" "" "" "" "" "" "0" "" "" "" "" "00383654" "" "" "" "1" "" "00000" "{PMID:Manara 2019:31196119}" "" "M" "" "" "" "0" "" "" "" "3" "00384681" "" "" "" "1" "" "00000" "{PMID:Feuillan-2011:21209035}" "" "" "" "" "" "0" "" "" "" "" "00384682" "" "" "" "1" "" "00000" "{PMID:Feuillan-2011:21209035}" "" "" "" "" "" "0" "" "" "" "" "00384683" "" "" "" "1" "" "00000" "{PMID:Feuillan-2011:21209035}" "" "" "" "" "" "0" "" "" "" "" "00384808" "" "" "" "1" "" "00000" "{PMID:Abu-Safieh-2012:22353939}" "2 unaffected siblings screened" "" "yes" "Saudi Arabia" "" "0" "" "" "Arab" "" "00384809" "" "" "" "1" "" "00000" "{PMID:Abu-Safieh-2012:22353939}" "3 unaffected siblings screened" "" "yes" "Saudi Arabia" "" "0" "" "" "Arab" "" "00384810" "" "" "" "1" "" "00000" "{PMID:Abu-Safieh-2012:22353939}" "3 unaffected siblings screened" "" "yes" "Saudi Arabia" "" "0" "" "" "Arab" "" "00384811" "" "" "" "1" "" "00000" "{PMID:Abu-Safieh-2012:22353939}" "3 unaffected siblings screened" "" "yes" "Saudi Arabia" "" "0" "" "" "Arab" "" "00384823" "" "" "" "1" "" "00000" "{PMID:Abu-Safieh-2012:22353939}" "2 unaffected siblings screened" "" "yes" "Saudi Arabia" "" "0" "" "" "Arab" "" "00384826" "" "" "" "1" "" "00000" "{PMID:Abu-Safieh-2012:22353939}, Abu-Safieh 2010" "3 unaffected siblings screened" "" "yes" "Saudi Arabia" "" "0" "" "" "Arab" "" "00384832" "" "" "" "1" "" "00000" "{PMID:Abu-Safieh-2012:22353939}" "2 unaffected siblings screened" "" "yes" "Saudi Arabia" "" "0" "" "" "Arab" "" "00384833" "" "" "" "1" "" "00000" "{PMID:Abu-Safieh-2012:22353939}" "2 unaffected siblings screened" "" "yes" "Saudi Arabia" "" "0" "" "" "Arab" "" "00384839" "" "" "" "1" "" "00000" "{PMID:Abu-Safieh-2012:22353939}" "" "" "yes" "Saudi Arabia" "" "0" "" "" "Arab" "" "00385185" "" "" "" "1" "" "00000" "{PMID:Chen-2011:21642631}" "" "" "" "" "" "0" "" "" "white" "" "00385219" "" "" "" "1" "" "00000" "{PMID:Chen-2011:21642631}" "" "" "" "" "" "0" "" "" "white" "" "00385220" "" "" "" "1" "" "00000" "{PMID:Chen-2011:21642631}" "" "" "" "" "" "0" "" "" "white" "" "00385221" "" "" "" "1" "" "00000" "{PMID:Chen-2011:21642631}" "" "" "" "" "" "0" "" "" "white" "" "00385249" "" "" "" "1" "" "00000" "{PMID:Redin-2012:22773737}" "" "" "" "Tunisia" "" "0" "" "" "" "" "00385282" "" "" "" "1" "" "00000" "{PMID:M\'hamdi-2014:23432027}" "" "M" "yes" "Tunisia" "" "0" "" "" "Tunisian" "" "00385287" "" "" "" "1" "" "00000" "{PMID:M\'hamdi-2014:23432027}" "" "M" "yes" "Tunisia" "" "0" "" "" "Tunisian" "" "00385331" "" "" "" "1" "" "00000" "{PMID:Deveault-2011:21344540}" "" "M" "" "" "" "0" "" "" "Ghanian" "" "00385350" "" "" "" "1" "" "00000" "{PMID:Deveault-2011:21344540}" "" "F" "" "" "" "0" "" "" "white" "" "00385351" "" "" "" "1" "" "00000" "{PMID:Deveault-2011:21344540}" "" "M" "" "" "" "0" "" "" "French" "" "00385352" "" "" "" "1" "" "00000" "{PMID:Deveault-2011:21344540}" "" "F" "" "" "" "0" "" "" "French" "" "00385565" "" "" "" "1" "" "00000" "{PMID:Janssen-2011:21052717}" "" "" "" "" "" "0" "" "" "Northern-Europe" "AR14(A2824)-4" "00385601" "" "" "" "1" "" "00000" "{PMID:Janssen-2011:21052717}" "" "" "" "" "" "0" "" "" "Northern-Europe" "AR634(A2862)-II1" "00385638" "" "" "" "1" "" "00000" "{PMID:Lindstrand-2014:24746959}" "" "M" "" "Israel" "" "0" "" "" "Israeli" "44/3" "00385639" "" "" "" "1" "" "00000" "{PMID:Lindstrand-2014:24746959}" "" "F" "" "Israel" "" "0" "" "" "Israeli" "44/4" "00385945" "" "" "" "1" "" "00000" "{PMID:Fattahi-2014:24849935}" "" "" "" "" "" "0" "" "" "Fars" "" "00387550" "" "" "" "1" "" "00000" "{PMID:Knopp 2015:26003401}" "Father" "M" "yes" "" "" "0" "" "" "" "" "00387551" "" "" "" "1" "" "00000" "{PMID:Knopp 2015:26003401}" "Patient (mother)" "F" "yes" "" "" "0" "" "" "" "" "00387552" "" "" "" "1" "" "00000" "{PMID:Knopp 2015:26003401}" "" "M" "yes" "" "" "0" "" "" "" "" "00387553" "" "" "" "1" "" "00000" "{PMID:Knopp 2015:26003401}" "" "F" "yes" "" "" "0" "" "" "" "" "00387597" "" "" "" "1" "" "00000" "{PMID:Hirano 2015:26325687}" "" "F" "no" "Japan" "" "0" "" "" "Japanese" "" "00388298" "" "" "" "1" "" "00000" "{PMID:Tao 2020:32448990}" "" "M" "" "China" "" "0" "" "" "" "P01" "00388299" "" "" "" "1" "" "00000" "{PMID:Tao 2020:32448990}" "" "M" "" "China" "" "0" "" "" "" "P02" "00388304" "" "" "" "1" "" "00000" "{PMID:Ullah-2017:28761321}" "" "M" "yes" "Pakistan" "" "0" "" "" "" "A:IV-3" "00388305" "" "" "" "1" "" "00000" "{PMID:Ullah-2017:28761321}" "" "M" "yes" "Pakistan" "" "0" "" "" "" "A:IV-4" "00388306" "" "" "" "1" "" "00000" "{PMID:Ullah-2017:28761321}" "" "M" "yes" "Pakistan" "" "0" "" "" "" "A:IV-5" "00388307" "" "" "" "1" "" "00000" "{PMID:Ullah-2017:28761321}" "" "M" "yes" "Pakistan" "" "0" "" "" "" "B:IV-2" "00388308" "" "" "" "1" "" "00000" "{PMID:Ullah-2017:28761321}" "" "M" "yes" "Pakistan" "" "0" "" "" "" "B:IV-4" "00388309" "" "" "" "1" "" "00000" "{PMID:Ullah-2017:28761321}" "" "M" "yes" "Pakistan" "" "0" "" "" "" "B:IV-7" "00388310" "" "" "" "1" "" "00000" "{PMID:Ullah-2017:28761321}" "" "M" "yes" "Pakistan" "" "0" "" "" "" "B:V-1" "00388530" "" "" "" "1" "" "00000" "{PMID:Hirano 2020:32451492}" "" "F" "no" "Japan" "" "0" "" "" "" "5" "00388816" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 47, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "100" "00388862" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 62, Bardet-Biedl syndrome, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "146" "00391215" "" "" "" "1" "" "00000" "{PMID:Gumus 2021:32686083}" "" "M" "" "Turkey" "" "0" "" "" "" "4" "00391377" "" "" "" "1" "" "00000" "{PMID:Méjécase 2020:3278337" "" "?" "" "United Arab Emirates" "" "0" "" "" "" "45" "00392774" "" "" "" "1" "" "00000" "{PMID:Meng 2021:33777945}" "" "M" "no" "China" "" "0" "" "" "" "F7-II:1" "00392775" "" "" "" "1" "" "00000" "{PMID:Meng 2021:33777945}" "" "F" "no" "China" "" "0" "" "" "" "F8-II:1" "00394475" "" "" "" "1" "" "00000" "{PMID:Jeziorny-2020:33138063}" "" "F" "" "" "" "0" "" "" "" "" "00395573" "" "" "" "1" "" "00000" "{PMID:Perea-Romero 2021:34448047}" "" "" "" "Spain" "" "0" "" "" "" "RP-0928" "00396589" "" "" "" "1" "" "00000" "{PMID:Mary 2019:30614526}" "Fetus: term at 29 gestation weeks" "M" "" "France" "" "0" "" "" "" "" "00417526" "" "" "" "1" "" "00000" "{PMID:Aldahmesh 2014:24488770}" "family BBS_DG6, individual a" "F" "yes" "Saudi Arabia" "" "0" "" "" "" "BBS_DG6a" "00417527" "" "" "" "1" "" "00000" "{PMID:Aldahmesh 2014:24488770}" "family BBS_DG6, individual b" "F" "yes" "Saudi Arabia" "" "0" "" "" "" "BBS_DG6b" "00417873" "" "" "" "1" "" "00000" "{PMID:Shen 2019:30839500}" "Family Miao, proband\'s cousin 1 (loop 1)" "M" "likely" "China" "" "0" "" "" "Chinese Miao" "Case 1 (III-3)" "00417874" "" "" "" "1" "" "00000" "{PMID:Shen 2019:30839500}" "Family Miao, proband\'s cousin 2 (sister of cousin 1, loop 1)" "F" "likely" "China" "" "0" "" "" "Chinese Miao" "Case 2 (III-5)" "00417875" "" "" "" "1" "" "00000" "{PMID:Shen 2019:30839500}" "Family Miao, proband (loop 3)" "F" "likely" "China" "" "0" "" "" "Chinese Miao" "Case 3 (III-10)" "00418648" "" "" "" "1" "" "00006" "{PMID:Smaoui 2006:16877420}" "" "" "yes" "Tunisia" "" "0" "" "" "" "Fam57014" "00418674" "" "" "" "1" "" "00006" "{PMID:Smaoui 2006:16877420}" "" "" "yes" "Tunisia" "" "0" "" "" "" "" "00418675" "" "" "" "1" "" "00006" "{PMID:Smaoui 2006:16877420}" "" "" "yes" "Tunisia" "" "0" "" "" "" "" "00418676" "" "" "" "1" "" "00006" "{PMID:Smaoui 2006:16877420}" "" "" "yes" "Tunisia" "" "0" "" "" "" "" "00418677" "" "" "" "1" "" "00006" "{PMID:Smaoui 2006:16877420}" "" "" "yes" "Tunisia" "" "0" "" "" "" "" "00418678" "" "" "" "1" "" "00006" "{PMID:Smaoui 2006:16877420}" "" "" "yes" "Tunisia" "" "0" "" "" "" "" "00418679" "" "" "" "1" "" "00006" "{PMID:Smaoui 2006:16877420}" "" "" "yes" "Tunisia" "" "0" "" "" "" "" "00447024" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "F" "" "Germany" "" "0" "" "" "" "BBS-70" "00464703" "" "" "" "1" "" "00764" "" "Retinitis pigmentosa since mid-childhood, and cataract. His spermogram showes oligo and necrozoospermia." "M" "yes" "Egypt" "" "" "" "" "" "2351_Case7 (BBS7)" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 115 "{{individualid}}" "{{diseaseid}}" "00046459" "04212" "00050583" "00198" "00154972" "00198" "00239141" "00198" "00265912" "04212" "00265913" "04212" "00265914" "03242" "00265915" "03242" "00276326" "04379" "00293530" "00198" "00293531" "00198" "00293532" "00198" "00304978" "00198" "00308969" "04214" "00308970" "04214" "00328504" "04214" "00358811" "04212" "00358814" "04212" "00358817" "04212" "00358961" "04214" "00359023" "04214" "00363433" "04214" "00363435" "04214" "00363590" "04214" "00363599" "04214" "00373881" "04214" "00379360" "04214" "00379361" "04214" "00379362" "04214" "00379363" "04214" "00379364" "04214" "00379365" "04214" "00379812" "04214" "00380352" "04214" "00380355" "04214" "00381017" "04214" "00381239" "04214" "00382494" "04214" "00383117" "04214" "00383194" "04214" "00383195" "04214" "00383196" "04214" "00383197" "04214" "00383225" "04214" "00383241" "04214" "00383243" "04214" "00383375" "04214" "00383654" "04214" "00384681" "04214" "00384682" "04214" "00384683" "04214" "00384808" "04214" "00384809" "04214" "00384810" "04214" "00384811" "04214" "00384823" "04214" "00384826" "04214" "00384832" "04214" "00384833" "04214" "00384839" "04214" "00385185" "04214" "00385219" "04214" "00385220" "04214" "00385221" "04214" "00385249" "04214" "00385282" "04214" "00385287" "04214" "00385331" "04214" "00385350" "04214" "00385351" "04214" "00385352" "04214" "00385565" "04214" "00385601" "04214" "00385638" "04214" "00385639" "04214" "00385945" "04214" "00387550" "04214" "00387551" "04214" "00387552" "04214" "00387553" "04214" "00387597" "04214" "00388298" "04214" "00388299" "04214" "00388304" "04214" "00388305" "04214" "00388306" "04214" "00388307" "04214" "00388308" "04214" "00388309" "04214" "00388310" "04214" "00388530" "04214" "00388816" "04214" "00388862" "04214" "00391215" "04214" "00391377" "04214" "00392774" "04214" "00392775" "04214" "00394475" "04214" "00395573" "04214" "00396589" "04214" "00417526" "04212" "00417527" "04212" "00417873" "04212" "00417874" "04212" "00417875" "04212" "00418648" "04212" "00418674" "04212" "00418675" "04212" "00418676" "04212" "00418677" "04212" "00418678" "04212" "00418679" "04212" "00447024" "00198" "00464703" "00112" "00464703" "05895" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00112, 00139, 00198, 03242, 04212, 04214, 04379, 05895 ## Count = 101 "{{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}}" "0000037195" "00198" "00050583" "00006" "Isolated (sporadic)" "" "global developmental delay, intellectual disability" "" "" "" "" "" "" "" "" "" "" "" "0000127704" "00198" "00154972" "01807" "Unknown" "" "Global developmental delay (HP:0001263); Obesity (HP:0001513); Abnormality of the cardiovascular system (HP:0001626)" "" "" "" "" "" "" "" "" "" "" "" "0000203689" "00198" "00239141" "03312" "Familial, autosomal recessive" "12y" "height 124cm (-3.4 SD), polydactyly, walking difficulties, speech impairment, no blindness, macrocephaly, alopecia, scoliosis, cutis laxa, no umbilical hernia, facial coarsening" "" "" "" "" "" "" "" "" "MACS;BBS-7" "mixed phenotype" "" "0000203690" "04212" "00265912" "03312" "Familial, autosomal recessive" "15y" "height 139cm (-3.5 SD), polydactyly, walking difficulties, speech impairment, blindness, no macrocephaly, no alopecia, no scoliosis, no cutis laxa, no umbilical hernia, no facial coarsening" "" "" "" "" "" "" "" "" "BBS-7" "Bardet-Biedl syndrome" "" "0000203691" "04212" "00265913" "03312" "Familial, autosomal recessive" "08y" "height 126cm (-0.1 SD), no polydactyly, walking difficulties, speech impairment, blindness, no macrocephaly, no alopecia, no scoliosis, no cutis laxa, no umbilical hernia, no facial coarsening" "" "" "" "" "" "" "" "" "BBS-7" "Bardet-Biedl syndrome" "" "0000203692" "03242" "00265914" "03312" "Familial, autosomal recessive" "06y" "height 111cm (-0.6 SD), no polydactyly, no walking difficulties, no speech impairment, no blindness, macrocephaly, no alopecia, no scoliosis, no cutis laxa, umbilical hernia, facial coarsening" "" "" "" "" "" "" "" "" "MACS" "RIN2 syndrome" "" "0000203693" "03242" "00265915" "03312" "Familial, autosomal recessive" "04y" "height 96cm (-1.3 SD), no polydactyly, no walking difficulties, no speech impairment, no blindness, macrocephaly, alopecia, scoliosis, no cutis laxa, umbilical hernia, facial coarsening" "" "" "" "" "" "" "" "" "MACS" "RIN2 syndrome" "" "0000210917" "04379" "00276326" "03470" "Familial, autosomal recessive" "05y" "Obesity\r\nPolydactyly\r\nID\r\nRenal abnormalities\r\nGenital abnormalities\r\nBehavioral problems\r\nFacial dysmorphism\r\nCardiac abnormalities" "" "" "" "" "" "" "" "" "BBS7" "" "" "0000234289" "04214" "00308969" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "BBS" "" "0000234290" "04214" "00308970" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "BBS" "" "0000246730" "04214" "00328504" "00000" "Familial, autosomal recessive" "2y" "cone-rod dystrophy (HP:0000510), polydactyly (HP:0010442), obesity (HP:0001513)" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000254026" "04212" "00358811" "00000" "Unknown" "4y" "see paper; ..." "" "" "" "" "" "" "" "" "" "Bardet-Biedl Syndrome" "" "0000254029" "04212" "00358814" "00000" "Unknown" "17y" "see paper; ..." "" "" "" "" "" "" "" "" "" "Bardet-Biedl Syndrome" "" "0000254032" "04212" "00358817" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Bardet-Biedl Syndrome" "" "0000254259" "04214" "00358961" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000254320" "04214" "00359023" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "" "0000258794" "04214" "00363433" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Bardet Biedl syndrome" "" "0000258796" "04214" "00363435" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Bardet Biedl syndrome" "" "0000258940" "04214" "00363590" "00000" "Isolated (sporadic)" "" "syndromic" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "" "0000258949" "04214" "00363599" "00000" "Familial" "" "syndromic" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "" "0000269090" "04214" "00373881" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ciliopathy" "" "0000273233" "04214" "00379360" "00000" "Familial, autosomal recessive" "" "Retinitis pigmentosa, polydactyly, obesity, hypogonadism, renal anomalies, mental retardation, developmental delay, hypotonia, shortfingers" "" "" "" "" "" "" "" "" "" "Bardete Biedl syndrome" "" "0000273234" "04214" "00379361" "00000" "Familial, autosomal recessive" "" "Retinitis pigmentosa, polydactyly, obesity, mental retardation, hypotonia, shortfingers" "" "" "" "" "" "" "" "" "" "Bardete Biedl syndrome" "" "0000273235" "04214" "00379362" "00000" "Familial, autosomal recessive" "" "polydactyly, obesity, hypogonadism, renal anomalies" "" "" "" "" "" "" "" "" "" "Bardete Biedl syndrome" "" "0000273236" "04214" "00379363" "00000" "Familial, autosomal recessive" "" "Retinitis pigmentosa, polydactyly, obesity, hypogonadism" "" "" "" "" "" "" "" "" "" "Bardete Biedl syndrome" "" "0000273237" "04214" "00379364" "00000" "Familial, autosomal recessive" "" "Retinitis pigmentosa, polydactyly, obesity," "" "" "" "" "" "" "" "" "" "Bardete Biedl syndrome" "" "0000273238" "04214" "00379365" "00000" "Familial, autosomal recessive" "" "Retinitis pigmentosa, polydactyly, obesity, mental retardation, developmental delay, shortfingers" "" "" "" "" "" "" "" "" "" "Bardete Biedl syndrome" "" "0000273666" "04214" "00379812" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "" "0000274203" "04214" "00380352" "00000" "Familial, autosomal recessive" "6y" "Anemia, arterial hypertension. Retinitis pigmentaria" "" "" "" "" "" "" "" "" "" "Bardet–Biedl syndrome" "" "0000274206" "04214" "00380355" "00000" "Familial, autosomal recessive" "15y" "retinitis pigmentaria" "" "" "" "" "" "" "" "" "" "Bardet–Biedl syndrome" "" "0000274868" "04214" "00381017" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl syndrome" "" "0000275090" "04214" "00381239" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "juvenile retinitis pigmentosa" "" "0000276343" "04214" "00382494" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000276907" "04214" "00383117" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl syndrome (BBS)" "" "0000276981" "04214" "00383194" "00000" "Familial, autosomal recessive" "36y2m" "obesity, brachydactyly/clinodactyly/ polydactyly, severe cognitive impairment, developmental delay" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000276982" "04214" "00383195" "00000" "Familial, autosomal recessive" "28y11m" "obesity, brachydactyly, moderate cognitive impairment, developmental delay, hypogonadism" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000276983" "04214" "00383196" "00000" "Isolated (sporadic)" "11y7m" "obesity, polydactyly, mild cognitive impairment, developmental delay" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000276984" "04214" "00383197" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000277012" "04214" "00383225" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000277028" "04214" "00383241" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000277030" "04214" "00383243" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000277160" "04214" "00383375" "00000" "Complex" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000277439" "04214" "00383654" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl syndro" "" "0000278464" "04214" "00384681" "00000" "Familial, autosomal recessive" "5y" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000278465" "04214" "00384682" "00000" "Familial, autosomal recessive" "6y10m" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000278466" "04214" "00384683" "00000" "Familial, autosomal recessive" "34y" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000278591" "04214" "00384808" "00000" "Familial, autosomal recessive" "" "obesity, polydactyly, typical facies" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa (RP)" "" "0000278592" "04214" "00384809" "00000" "Familial, autosomal recessive" "" "obesity, mental retardation, renal disease, polydactyly, aopy, typical facies, hypogenitalism" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa (RP)" "" "0000278593" "04214" "00384810" "00000" "Familial, autosomal recessive" "" "obesity, mental retardation, renal disease, polydactyly, aopy, typical facies" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa (RP)" "" "0000278594" "04214" "00384811" "00000" "Familial, autosomal recessive" "" "obesity, mental retardation, renal disease, polydactyly, aopy, typical facies" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa (RP)" "" "0000278606" "04214" "00384823" "00000" "Familial, autosomal recessive" "" "obesity, mental retardation, renal disease, polydactyly, typical facies, ventricular septal defect" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa (RP)" "" "0000278609" "04214" "00384826" "00000" "Familial, autosomal recessive" "" "obesity, mental retardation, polydactyly, typical facies" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa (RP)" "" "0000278615" "04214" "00384832" "00000" "Familial, autosomal recessive" "" "obesity, polydactyly, hydrometrocolpos" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa (RP)" "" "0000278616" "04214" "00384833" "00000" "Familial, autosomal recessive" "" "obesity, polydactyly, hydrometrocolpos" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa (RP)" "" "0000278622" "04214" "00384839" "00000" "Familial, autosomal recessive" "" "obesity, mental retardation, polydactyly, deafness," "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa (RP)" "" "0000278981" "04214" "00385185" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000279015" "04214" "00385219" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000279016" "04214" "00385220" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000279017" "04214" "00385221" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000279045" "04214" "00385249" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000279078" "04214" "00385282" "00000" "Familial, autosomal recessive" "6y" "obesity, retinitis pigmentosa, polydactyly, hypogenitalism,mental retardation, anemia HTA" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000279083" "04214" "00385287" "00000" "Familial, autosomal recessive" "15y" "obesity, retinitis pigmentosa, polydactyly, hypogenitalism,mental retardation" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000279127" "04214" "00385331" "00000" "Familial, autosomal recessive" "30y1m" "retinal dystrophy, weight anomaly, digit anomaly, renal structure anomaly, Liver fx" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000279146" "04214" "00385350" "00000" "Familial, autosomal recessive" "40y4m" "retinal dystrophy, weight anomaly, digit anomaly, cognitive impairement, developmental delay, developmental delay, developmental delay, Scoliosis, Osteopenia, DislipidemiaCholelithiasis" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000279147" "04214" "00385351" "00000" "Familial, autosomal recessive" "33y" "retinal dystrophy, weight anomaly, digit anomaly, cognitive impairement, developmental delay, developmental delay, developmental delay, renal structure anomaly, Scoliosis, Liver fx, Dislipidemia" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000279148" "04214" "00385352" "00000" "Familial, autosomal recessive" "14y8m" "retinal dystrophy, weight anomaly, digit anomaly, cognitive impairement, developmental delay, developmental delay, developmental delay, renal structure anomaly, Liver str, Dislipidemia, HyperinsulinemiaOvarian cyst, Hyperphagia, Depression, OCD" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000279360" "04214" "00385565" "00000" "Familial, autosomal recessive" "" "retinitis pigmentosa, postaxial polydactyly, obesity, hypogonadism, renal anomalies, MR" "" "" "" "" "" "" "" "" "" "Bardet–Biedl syndrome (BBS)" "" "0000279396" "04214" "00385601" "00000" "Familial, autosomal recessive" "" "Retinitis pigmentosa, obesity, hypogonadism?" "" "" "" "" "" "" "" "" "" "Bardet–Biedl syndrome (BBS)" "" "0000279433" "04214" "00385638" "00000" "Familial, autosomal recessive" "" "retinitis pigmentosa, polydactyly, obesity, hypogonadism, developmental delay, born with one kidney; chronic renal failure; kidney transplantation" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "0000279434" "04214" "00385639" "00000" "Familial, autosomal recessive" "" "retinitis pigmentosa, polydactyly, obesity, developmental delay" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "0000279746" "04214" "00385945" "00000" "Familial, autosomal recessive" "" "obesity, rp, myopia, polydactyly hand, polydactyly feet, renal anomaly, hypogonadisma, speech disorder, Nystagmus, congenital-cardiac-anomaly, behavioral" "" "" "" "" "" "" "" "" "" "Bardet–Biedl syndrome (BBS)" "" "0000281113" "04214" "00387550" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "" "0000281114" "04214" "00387551" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "" "0000281115" "04214" "00387552" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "" "0000281116" "04214" "00387553" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "" "0000281160" "04214" "00387597" "00000" "Familial, autosomal recessive" "" "" "6y" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "" "0000281850" "04214" "00388298" "00000" "Familial, autosomal recessive" "12y" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "Bardet-Biedl syndrome" "" "0000281851" "04214" "00388299" "00000" "Familial, autosomal recessive" "5y" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "Bardet-Biedl syndrome" "" "0000281856" "04214" "00388304" "00000" "Familial, autosomal recessive" "21y" "retinitis pigmentosa, polydactyly right feet, obesity, hypogonadism, cognitive Impairment, syndactyly right foot, 2–3 toes" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "0000281857" "04214" "00388305" "00000" "Familial, autosomal recessive" "15y" "retinitis pigmentosa, polydactyly both hands and feet, obesity, hypogonadism, cognitive Impairment, syndactyly both feet, 5–6 toes" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "0000281858" "04214" "00388306" "00000" "Familial, autosomal recessive" "12y" "retinitis pigmentosa, polydactyly both hands, obesity, hypogonadism, cognitive Impairment, syndactyly both feet, 2–3 toes" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "0000281859" "04214" "00388307" "00000" "Familial, autosomal recessive" "17y" "retinitis pigmentosa, polydactyly both feet, hypogonadism" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "0000281860" "04214" "00388308" "00000" "Familial, autosomal recessive" "16y" "retinitis pigmentosa, polydactyly both hands, obesity, hypogonadism, cognitive Impairment" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "0000281861" "04214" "00388309" "00000" "Familial, autosomal recessive" "10y" "retinitis pigmentosa, polydactyly both feet, obesity, hypogonadism, cognitive Impairment" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "0000281862" "04214" "00388310" "00000" "Familial, autosomal recessive" "6y" "?, polydactyly both hands and feet, obesity, cognitive Impairment" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "0000282071" "04214" "00388530" "00000" "Familial, autosomal recessive" "6y" "intellectual disability, rod-cone dystrophy, obesity, polydactyly, mild pyelectasis, BMI: 24.7, strabismus, dental crowding, cardiac anomaly" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "Bardet-Biedl syndrome" "" "0000282357" "04214" "00388816" "00000" "Isolated (sporadic)" "37y" "age at genetic diagnosis mentioned" "" "30y" "" "" "" "" "" "" "sporadic retinitis pigmentosa" "" "" "0000282403" "04214" "00388862" "00000" "Familial, autosomal recessive" "13y" "age at genetic diagnosis mentioned" "" "12y" "" "" "" "" "" "" "Bardet-Biedl syndrome" "" "" "0000284657" "04214" "00391215" "00000" "Familial, autosomal recessive" "5y" "BMI: 31.9, polydactyly, severe intellectual disability, renal abnormalities, genital abnormalities, no developmental delay, behavioral problems, Persistent left vena cava superior, Legg-Calve-Perthes and accessory nipple BBS7 c.849+1G > T" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "" "0000284817" "04214" "00391377" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome 7 (615984)" "Bardet-Biedl syndrome 7 (615984)" "" "0000286020" "04214" "00392774" "00000" "Familial, autosomal recessive" "8y" "BMI: 26.3no data, no intellectual disabilityno datano datano data, tooth abnormalities, short statureno datano datano datano data–, best corrected visual acuity right/left eye: 0.2/0.2, fundus: macular atrophy, optic disk pallor, osteocyte cell-like pigment deposition, pattern visual evoked potential: –, flash visual evoked potential: moderately reduced amplitude, mild delay, full-field flash electroretinography: unrecordable, multifocal electroretinograph" "0m" "" "" "" "" "" "" "" "Bardet-Biedl Syndrome" "Bardet-Biedl Syndrome" "" "0000286021" "04214" "00392775" "00000" "Familial, autosomal recessive" "8y" "BMI: 41.42, polydactyly, intellectual disability, no gonadal abnormalities, no renal abnormalities, no hearing loss, tooth abnormalities, short stature, no cardiac abnormalities, blood sugar normal, blood pressure normal, lipid levels normal, exotropia, best corrected visual acuity right/left eye: 0.3/0.3, fundus: retinitis pigment disorder, pattern visual evoked potential: –, flash visual evoked potential: moderately reduced amplitude, mild delay, full-field flash electroretinography: unrecordable, multifocal electroretinography:" "8y" "" "" "" "" "" "" "" "Bardet-Biedl Syndrome" "Bardet-Biedl Syndrome" "" "0000287678" "04214" "00394475" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome" "" "0000288771" "04214" "00395573" "00000" "Familial, autosomal recessive" "" "blepharitis, rod-cone dystrophy, obesity, elevated hepatic transaminases, hepatic steatosis, brachydactyly syndrome, postaxial hand polydactyly, brachycephaly, bilateral cryptorchidism, external genital hypoplasia, micrognathia" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "Bardet-Biedl syndrome" "" "0000289750" "04214" "00396589" "00000" "Familial, autosomal recessive" "" "Hydramnios, accessory spleen, absent 12th rib pair, polydactyly, postaxial, lower limbs, upper limbs, kidney abnormality, hyperechogenic kidneys, renal cysts, ovarian cyst, abnormal genital system morphology, hepatic anomaly" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "0000309006" "04212" "00417526" "00000" "Familial, autosomal recessive" "" "obesity; intellectual disability; renal symptoms: chronic kidney disease; retinitis pigmentosa; polydactyly; no deafness; no anosmia; atopy; BBS facies; congenital heart disease: none; fatty liver: none; no hypogenitalism" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "" "0000309007" "04212" "00417527" "00000" "Familial, autosomal recessive" "" "obesity; intellectual disability; renal symptoms: none; retinitis pigmentosa; polydactyly; no deafness; no anosmia; no atopy; BBS facies; congenital heart disease: none; fatty liver: none; no hypogenitalism" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "" "0000309240" "04212" "00417873" "00000" "Familial, autosomal recessive" "37y" "weight, kg/height, m: 72.5/1.49; pressure, mmHg: 140/100; major bbs phenotypes: retinitis pigmentosa: yes; obesity (bmi, kg/m2): yes (33); renal anomalies: right renal cyst; polydactyly: yes; learning/comprehension: delay; hypogonadism: yes; minor features: speech development: delay; motor skill: normal; strabismus: yes; dental architechure: normal; behavior: normal; development delay: mild; brachydactyly: yes; short neck, low nose bridge: yes; diabetes mellitus: no; heart problems: no; hearing loss: no; menstruation in female: na; nystagmus: no; cataract: no; micropenis: yes" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "" "0000309241" "04212" "00417874" "00000" "Familial, autosomal recessive" "35y" "weight, kg/height, m: 60/1.36; pressure, mmHg: 130/90; major bbs phenotypes: retinitis pigmentosa: yes; obesity (bmi, kg/m2): yes (32); renal anomalies: right renal cyst; polydactyly: yes; learning/comprehension: delay; hypogonadism: no; minor features: speech development: delay; motor skill: normal; strabismus: yes; dental architechure: tooth crowded; behavior: normal; development delay: mild; brachydactyly: yes; short neck, low nose bridge: yes; diabetes mellitus: no; heart problems: no; hearing loss: no; menstruation in female: irregular; nystagmus: no; cataract: no; micropenis: not applicable" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "" "0000309242" "04212" "00417875" "00000" "Familial, autosomal recessive" "39y" "weight, kg/height, m: 70/1.36; pressure, mmHg: 140/104; major bbs phenotypes: retinitis pigmentosa: yes; obesity (bmi, kg/m2): yes (38); renal anomalies: right renal cyst; polydactyly: yes; learning/comprehension: delay; hypogonadism: no; minor features: speech development: delay; motor skill: normal; strabismus: yes; dental architechure: tooth crowded; behavior: normal; development delay: mild; brachydactyly: yes; short neck, low nose bridge: yes; diabetes mellitus: no; heart problems: no; hearing loss: no; menstruation in female: irregular; nystagmus: no; cataract: no; micropenis: not applicable" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "" "0000336223" "00198" "00447024" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "" ## Screenings ## Do not remove or alter this header ## ## Count = 114 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000046564" "00046459" "1" "01356" "00006" "2015-07-10 21:07:30" "" "" "SEQ" "DNA" "" "" "0000050528" "00050583" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000155835" "00154972" "0" "01807" "01807" "2018-03-07 04:34:00" "" "" "SEQ" "DNA" "" "" "0000240245" "00239141" "1" "03312" "03312" "2019-06-03 07:16:27" "" "" "SEQ-NG" "DNA" "" "" "0000267032" "00265912" "1" "00006" "00006" "2019-10-11 17:09:44" "" "" "SEQ" "DNA" "" "" "0000267033" "00265913" "1" "03312" "00006" "2019-10-11 17:14:52" "" "" "SEQ" "DNA" "" "" "0000267034" "00265914" "1" "00006" "00006" "2019-10-11 17:22:52" "" "" "SEQ" "DNA" "" "" "0000267035" "00265915" "1" "03312" "00006" "2019-10-11 17:28:41" "" "" "SEQ" "DNA" "" "" "0000277473" "00276326" "1" "03470" "03470" "2020-01-31 08:47:50" "" "" "SEQ-NG-I" "DNA" "Blood" "WES and Sanger" "0000294698" "00293530" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294699" "00293531" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294700" "00293532" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000306107" "00304978" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000310114" "00308969" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000310115" "00308970" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000329719" "00328504" "1" "00000" "00006" "2021-01-28 09:35:56" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000360041" "00358811" "1" "00000" "00006" "2021-03-12 18:57:14" "" "" "arrayCGH;PCRlr;SEQ-NG" "DNA" "" "" "0000360044" "00358814" "1" "00000" "00006" "2021-03-12 18:57:14" "" "" "arrayCGH;PCRlr;SEQ-NG" "DNA" "" "" "0000360047" "00358817" "1" "00000" "00006" "2021-03-12 18:57:14" "" "" "arrayCGH;PCRlr;SEQ-NG" "DNA" "" "" "0000360198" "00358961" "1" "00000" "00006" "2021-03-18 12:15:00" "" "" "SEQ-NG" "DNA" "" "WES" "0000360261" "00359023" "1" "00000" "00006" "2021-03-18 16:44:20" "" "" "SEQ" "DNA" "" "105-gene panel" "0000364661" "00363433" "1" "00000" "00006" "2021-04-27 10:42:53" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000364663" "00363435" "1" "00000" "00006" "2021-04-27 10:42:53" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000364818" "00363590" "1" "00000" "00006" "2021-04-29 16:11:05" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000364827" "00363599" "1" "00000" "00006" "2021-04-29 16:11:05" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000375113" "00373881" "1" "00000" "00006" "2021-05-21 15:01:30" "" "" "SEQ-NG" "DNA" "" "238-gene panel" "0000380560" "00379360" "1" "00000" "00008" "2021-08-05 00:17:46" "" "" "SEQ" "DNA" "blood" "" "0000380561" "00379361" "1" "00000" "00008" "2021-08-05 00:17:46" "" "" "SEQ" "DNA" "blood" "" "0000380562" "00379362" "1" "00000" "00008" "2021-08-05 00:17:46" "" "" "SEQ" "DNA" "blood" "" "0000380563" "00379363" "1" "00000" "00008" "2021-08-05 00:17:46" "" "" "SEQ" "DNA" "blood" "" "0000380564" "00379364" "1" "00000" "00008" "2021-08-05 00:17:46" "" "" "SEQ" "DNA" "blood" "" "0000380565" "00379365" "1" "00000" "00008" "2021-08-05 00:17:46" "" "" "SEQ" "DNA" "blood" "" "0000381014" "00379812" "1" "00000" "03840" "2021-08-10 08:08:19" "" "" "SEQ-NG" "DNA" "" "panel of 441 hereditary eye disease genes including 291 genes related to IRD" "0000381566" "00380352" "1" "00000" "00008" "2021-08-13 14:56:11" "" "" "SEQ" "DNA" "blood" "" "0000381569" "00380355" "1" "00000" "00008" "2021-08-13 14:56:11" "" "" "SEQ" "DNA" "blood" "" "0000382231" "00381017" "1" "00000" "00008" "2021-08-25 12:56:54" "" "" "arraySEQ;SEQ;PCR" "DNA" "blood" "" "0000382454" "00381239" "1" "00009" "00008" "2021-08-27 03:00:16" "" "" "SEQ-NG" "DNA" "blood" "" "0000383708" "00382494" "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" "0000384341" "00383117" "1" "00000" "00008" "2021-09-23 02:25:49" "" "" "SEQ" "DNA" "blood" "" "0000384418" "00383194" "1" "00000" "00008" "2021-09-28 01:33:29" "" "" "SEQ;RT-PCR" "DNA;RNA" "" "" "0000384419" "00383195" "1" "00000" "00008" "2021-09-28 01:33:29" "" "" "SEQ;RT-PCR" "DNA;RNA" "" "" "0000384420" "00383196" "1" "00000" "00008" "2021-09-28 01:33:29" "" "" "SEQ;RT-PCR" "DNA;RNA" "" "" "0000384421" "00383197" "1" "00000" "00008" "2021-09-28 01:33:29" "" "" "SEQ;RT-PCR" "DNA;RNA" "" "" "0000384449" "00383225" "1" "00000" "00008" "2021-09-28 01:33:29" "" "" "DHPLC;SEQ" "DNA" "blood" "" "0000384465" "00383241" "1" "00000" "00008" "2021-09-28 01:33:29" "" "" "DHPLC;SEQ" "DNA" "blood" "" "0000384467" "00383243" "1" "00000" "00008" "2021-09-28 01:33:29" "" "" "DHPLC;SEQ" "DNA" "blood" "" "0000384599" "00383375" "1" "00000" "00008" "2021-09-29 07:02:49" "" "" "?" "DNA" "" "" "0000384879" "00383654" "1" "00000" "03840" "2021-09-29 12:18:14" "" "" "SEQ-NG;SEQ" "DNA" "blood;saliva" "panel containing 18 BBS genes" "0000385907" "00384681" "1" "00000" "00008" "2021-10-05 15:28:49" "" "" "SEQ" "DNA" "blood" "" "0000385908" "00384682" "1" "00000" "00008" "2021-10-05 15:28:49" "" "" "SEQ" "DNA" "blood" "" "0000385909" "00384683" "1" "00000" "00008" "2021-10-05 15:28:49" "" "" "SEQ" "DNA" "blood" "" "0000386034" "00384808" "1" "00000" "00008" "2021-10-05 15:28:49" "" "" "arraySNP;SEQ;RT-PCR" "DNA;RNA" "blood" "" "0000386035" "00384809" "1" "00000" "00008" "2021-10-05 15:28:49" "" "" "arraySNP;SEQ;RT-PCR" "DNA;RNA" "blood" "" "0000386036" "00384810" "1" "00000" "00008" "2021-10-05 15:28:49" "" "" "arraySNP;SEQ;RT-PCR" "DNA;RNA" "blood" "" "0000386037" "00384811" "1" "00000" "00008" "2021-10-05 15:28:49" "" "" "arraySNP;SEQ;RT-PCR" "DNA;RNA" "blood" "" "0000386049" "00384823" "1" "00000" "00008" "2021-10-05 15:28:49" "" "" "arraySNP;SEQ;RT-PCR" "DNA;RNA" "blood" "" "0000386052" "00384826" "1" "00000" "00008" "2021-10-05 15:28:49" "" "" "arraySNP;SEQ;RT-PCR" "DNA;RNA" "blood" "" "0000386058" "00384832" "1" "00000" "00008" "2021-10-05 15:28:49" "" "" "arraySNP;SEQ;RT-PCR" "DNA;RNA" "blood" "" "0000386059" "00384833" "1" "00000" "00008" "2021-10-05 15:28:49" "" "" "arraySNP;SEQ;RT-PCR" "DNA;RNA" "blood" "" "0000386065" "00384839" "1" "00000" "00008" "2021-10-05 15:28:49" "" "" "arraySNP;SEQ;RT-PCR" "DNA;RNA" "blood" "" "0000386414" "00385185" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "SEQ" "DNA" "blood" "" "0000386448" "00385219" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "SEQ" "DNA" "blood" "" "0000386449" "00385220" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "SEQ" "DNA" "blood" "" "0000386450" "00385221" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "SEQ" "DNA" "blood" "" "0000386478" "00385249" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "arrayCNV;SEQ" "DNA" "blood" "" "0000386511" "00385282" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "SEQ" "DNA" "" "targeted exon capture strategy" "0000386516" "00385287" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "SEQ" "DNA" "" "targeted exon capture strategy" "0000386560" "00385331" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "PCR" "DNA" "" "" "0000386579" "00385350" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "PCR" "DNA" "" "" "0000386580" "00385351" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "?" "?" "blood" "" "0000386581" "00385352" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "?" "?" "blood" "" "0000386794" "00385565" "1" "00000" "00008" "2021-10-13 10:28:12" "" "" "SEQ;HD" "DNA" "" "SEQ or HD" "0000386830" "00385601" "1" "00000" "00008" "2021-10-13 10:28:12" "" "" "SEQ" "DNA" "" "" "0000386867" "00385638" "1" "00000" "00008" "2021-10-13 10:28:12" "" "" "arrayCGH;SEQ;TaqMan" "DNA" "" "" "0000386868" "00385639" "1" "00000" "00008" "2021-10-13 10:28:12" "" "" "arrayCGH;SEQ;TaqMan" "DNA" "" "" "0000387173" "00385945" "1" "00000" "00008" "2021-10-19 12:24:34" "" "" "SEQ" "DNA" "blood" "" "0000388776" "00387550" "1" "00000" "00008" "2021-10-29 21:32:58" "" "" "arraySNP;SEQ-NG;PCR" "DNA" "blood" "" "0000388777" "00387551" "1" "00000" "00008" "2021-10-29 21:32:58" "" "" "arraySNP;SEQ-NG;PCR" "DNA" "blood" "" "0000388778" "00387552" "1" "00000" "00008" "2021-10-29 21:32:58" "" "" "arraySNP;SEQ-NG;PCR" "DNA" "blood" "" "0000388779" "00387553" "1" "00000" "00008" "2021-10-29 21:32:58" "" "" "arraySNP;SEQ-NG;PCR" "DNA" "blood" "" "0000388823" "00387597" "1" "00000" "00008" "2021-10-29 21:32:58" "" "" "SEQ;PCR" "DNA;RNA" "blood" "" "0000389539" "00388298" "1" "00000" "03840" "2021-11-03 23:16:48" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "targeted panel-based next-generation sequencing, 441 hereditary eye disease genes" "0000389540" "00388299" "1" "00000" "03840" "2021-11-03 23:16:48" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "targeted panel-based next-generation sequencing, 441 hereditary eye disease genes" "0000389545" "00388304" "1" "00000" "00008" "2021-11-04 08:27:28" "" "" "arraySNP;SEQ" "DNA" "blood" "" "0000389546" "00388305" "1" "00000" "00008" "2021-11-04 08:27:28" "" "" "arraySNP;SEQ" "DNA" "blood" "" "0000389547" "00388306" "1" "00000" "00008" "2021-11-04 08:27:28" "" "" "arraySNP;SEQ" "DNA" "blood" "" "0000389548" "00388307" "1" "00000" "00008" "2021-11-04 08:27:28" "" "" "arraySNP;SEQ" "DNA" "blood" "" "0000389549" "00388308" "1" "00000" "00008" "2021-11-04 08:27:28" "" "" "arraySNP;SEQ" "DNA" "blood" "" "0000389550" "00388309" "1" "00000" "00008" "2021-11-04 08:27:28" "" "" "arraySNP;SEQ" "DNA" "blood" "" "0000389551" "00388310" "1" "00000" "00008" "2021-11-04 08:27:28" "" "" "arraySNP;SEQ" "DNA" "blood" "" "0000389772" "00388530" "1" "00000" "03840" "2021-11-04 13:39:46" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "whole exome sequencing" "0000390059" "00388816" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET3 targeted sequencing panel - see paper" "0000390105" "00388862" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET8 targeted sequencing panel - see paper" "0000392457" "00391215" "1" "00000" "03840" "2021-11-13 19:05:38" "" "" "SEQ-NG-I" "DNA" "blood" "whole exome sequencing" "0000392619" "00391377" "1" "00000" "03840" "2021-11-15 18:02:17" "" "" "SEQ-NG" "DNA" "" "retrospective case note review, targeted gene panel testing" "0000394021" "00392774" "1" "00000" "03840" "2021-11-24 15:01:28" "" "" "SEQ-NG-I" "DNA" "blood" "131 known inherited retinal disease genes" "0000394022" "00392775" "1" "00000" "03840" "2021-11-24 15:01:28" "" "" "SEQ-NG-I" "DNA" "blood" "131 known inherited retinal disease genes" "0000395722" "00394475" "1" "00000" "00008" "2021-12-02 08:42:19" "" "" "SEQ-NG" "DNA" "blood" "" "0000396811" "00395573" "1" "00000" "03840" "2021-12-08 14:12:08" "" "" "?" "DNA" "" "clinical exome sequencing" "0000397832" "00396589" "1" "00000" "00008" "2021-12-16 13:33:12" "" "" "SEQ" "DNA" "" "" "0000418819" "00417526" "1" "00000" "03840" "2022-09-18 20:43:24" "" "" "arraySNP;SEQ" "DNA" "" "" "0000418820" "00417527" "1" "00000" "03840" "2022-09-18 20:43:24" "" "" "arraySNP;SEQ" "DNA" "" "" "0000419168" "00417873" "1" "00000" "03840" "2022-09-27 14:36:44" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "whole exome enrichment and sequencing" "0000419169" "00417874" "1" "00000" "03840" "2022-09-27 14:36:44" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "whole exome enrichment and sequencing" "0000419170" "00417875" "1" "00000" "03840" "2022-09-27 14:36:44" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "whole exome enrichment and sequencing" "0000419942" "00418648" "1" "00006" "00006" "2022-10-03 15:32:59" "" "" "SEQ" "DNA" "" "" "0000419968" "00418674" "1" "00006" "00006" "2022-10-03 16:24:08" "" "" "SEQ" "DNA" "" "" "0000419969" "00418675" "1" "00006" "00006" "2022-10-03 16:24:08" "" "" "SEQ" "DNA" "" "" "0000419970" "00418676" "1" "00006" "00006" "2022-10-03 16:24:08" "" "" "SEQ" "DNA" "" "" "0000419971" "00418677" "1" "00006" "00006" "2022-10-03 16:24:08" "" "" "SEQ" "DNA" "" "" "0000419972" "00418678" "1" "00006" "00006" "2022-10-03 16:24:08" "" "" "SEQ" "DNA" "" "" "0000419973" "00418679" "1" "00006" "00006" "2022-10-03 16:24:08" "" "" "SEQ" "DNA" "" "" "0000448601" "00447024" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS" "0000466350" "00464703" "1" "00764" "00764" "2025-04-10 20:31:37" "" "" "SEQ;SEQ-NG" "DNA" "Whole blood" "WES (whole exome sequencing)" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 190 "{{screeningid}}" "{{geneid}}" "0000046564" "BBS7" "0000050528" "BBS7" "0000240245" "BBS7" "0000240245" "RIN2" "0000267032" "BBS7" "0000267033" "BBS7" "0000267034" "RIN2" "0000267035" "RIN2" "0000277473" "BBS7" "0000310114" "BBS7" "0000310115" "BBS7" "0000329719" "BBS7" "0000360041" "BBS1" "0000360041" "BBS4" "0000360041" "BBS5" "0000360041" "BBS7" "0000360041" "NPHP1" "0000360044" "BBS4" "0000360044" "BBS7" "0000360044" "IFT74" "0000360047" "BBS7" "0000360047" "CEP290" "0000360047" "NPHP1" "0000364661" "BBS7" "0000364663" "BBS7" "0000364818" "BBS7" "0000364827" "BBS7" "0000375113" "BBS7" "0000380560" "ARL6" "0000380560" "BBS1" "0000380560" "BBS10" "0000380560" "BBS12" "0000380560" "BBS2" "0000380560" "BBS4" "0000380560" "BBS5" "0000380560" "BBS7" "0000380560" "BBS9" "0000380560" "MKKS" "0000380560" "TRIM32" "0000380560" "TTC8" "0000380561" "ARL6" "0000380561" "BBS1" "0000380561" "BBS10" "0000380561" "BBS12" "0000380561" "BBS2" "0000380561" "BBS4" "0000380561" "BBS5" "0000380561" "BBS7" "0000380561" "BBS9" "0000380561" "MKKS" "0000380561" "TRIM32" "0000380561" "TTC8" "0000380562" "ARL6" "0000380562" "BBS1" "0000380562" "BBS10" "0000380562" "BBS12" "0000380562" "BBS2" "0000380562" "BBS4" "0000380562" "BBS5" "0000380562" "BBS7" "0000380562" "BBS9" "0000380562" "MKKS" "0000380562" "TRIM32" "0000380562" "TTC8" "0000380563" "ARL6" "0000380563" "BBS1" "0000380563" "BBS10" "0000380563" "BBS12" "0000380563" "BBS2" "0000380563" "BBS4" "0000380563" "BBS5" "0000380563" "BBS7" "0000380563" "BBS9" "0000380563" "MKKS" "0000380563" "TRIM32" "0000380563" "TTC8" "0000380564" "ARL6" "0000380564" "BBS1" "0000380564" "BBS10" "0000380564" "BBS12" "0000380564" "BBS2" "0000380564" "BBS4" "0000380564" "BBS5" "0000380564" "BBS7" "0000380564" "BBS9" "0000380564" "MKKS" "0000380564" "TRIM32" "0000380564" "TTC8" "0000380565" "ARL6" "0000380565" "BBS1" "0000380565" "BBS10" "0000380565" "BBS12" "0000380565" "BBS2" "0000380565" "BBS4" "0000380565" "BBS5" "0000380565" "BBS7" "0000380565" "BBS9" "0000380565" "MKKS" "0000380565" "TRIM32" "0000380565" "TTC8" "0000381014" "BBS7" "0000381566" "MKS1" "0000381569" "AHI1" "0000382231" "BBS7" "0000382454" "BBS7" "0000383708" "BBS7" "0000384341" "BBS7" "0000384418" "BBS1" "0000384418" "BBS4" "0000384418" "BBS7" "0000384418" "TTC8" "0000384419" "BBS7" "0000384419" "TTC8" "0000384420" "BBS1" "0000384420" "BBS7" "0000384420" "TTC8" "0000384421" "BBS1" "0000384421" "BBS2" "0000384421" "BBS7" "0000384421" "TTC8" "0000384449" "BBS7" "0000384465" "BBS7" "0000384467" "TTC8" "0000384599" "BBS7" "0000384879" "BBS7" "0000385907" "BBS7" "0000385908" "BBS7" "0000385909" "BBS7" "0000386034" "BBS10" "0000386035" "BBS7" "0000386036" "BBS7" "0000386037" "BBS7" "0000386049" "MKKS" "0000386052" "BBS1" "0000386058" "BBS12" "0000386059" "BBS12" "0000386065" "BBS4" "0000386414" "BBS7" "0000386448" "BBS7" "0000386449" "BBS7" "0000386450" "BBS7" "0000386478" "BBS1" "0000386511" "BBS2" "0000386516" "BBS10" "0000386560" "BBS7" "0000386579" "BBS7" "0000386580" "BBS7" "0000386581" "BBS7" "0000386794" "BBS7" "0000386830" "BBS7" "0000386867" "BBS7" "0000386868" "BBS7" "0000387173" "BBS7" "0000388776" "BBS7" "0000388777" "BBS7" "0000388778" "BBS7" "0000388779" "BBS7" "0000388823" "BBS7" "0000389539" "BBS7" "0000389540" "BBS7" "0000389545" "BBS7" "0000389546" "BBS7" "0000389547" "BBS7" "0000389548" "BBS7" "0000389549" "BBS7" "0000389550" "BBS7" "0000389551" "BBS7" "0000389772" "BBS7" "0000390059" "BBS7" "0000390105" "BBS7" "0000392457" "BBS7" "0000392619" "BBS7" "0000394021" "BBS7" "0000394022" "BBS7" "0000395722" "BBS7" "0000396811" "BBS7" "0000397832" "BBS7" "0000418819" "BBS7" "0000418820" "BBS7" "0000419168" "BBS7" "0000419169" "BBS7" "0000419170" "BBS7" "0000419942" "BBS7" "0000419968" "BBS7" "0000419969" "BBS7" "0000419970" "BBS7" "0000419971" "BBS7" "0000419972" "BBS7" "0000419973" "BBS7" "0000466350" "BBS7" ## 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 = 209 "{{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}}" "0000074351" "3" "90" "4" "122749347" "122749348" "delins" "0" "01356" "BBS7_000004" "g.122749347_122749348delinsG" "" "" "" "1967_1968delTAinsC" "" "Germline" "yes" "" "0" "" "" "g.121828192_121828193delinsG" "" "pathogenic" "" "0000079508" "21" "90" "4" "122765152" "122765152" "subst" "0.00150666" "00006" "BBS7_000006" "g.122765152T>C" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "Germline" "" "" "0" "" "" "g.121843997T>C" "" "pathogenic" "" "0000079682" "11" "90" "4" "122791455" "122791455" "subst" "0" "00006" "BBS7_000005" "g.122791455A>T" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "Germline" "" "" "0" "" "" "g.121870300A>T" "" "pathogenic" "" "0000246242" "0" "10" "4" "122747117" "122747117" "subst" "8.1644E-6" "02330" "BBS7_000028" "g.122747117A>G" "" "" "" "BBS7(NM_176824.3):c.2046T>C (p.F682=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121825962A>G" "" "benign" "" "0000251831" "0" "30" "4" "122754409" "122754409" "subst" "0" "02326" "BBS7_000010" "g.122754409A>T" "" "" "" "BBS7(NM_176824.3):c.1653T>A (p.D551E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121833254A>T" "" "likely benign" "" "0000252082" "0" "30" "4" "122782839" "122782839" "subst" "0" "02326" "BBS7_000019" "g.122782839A>G" "" "" "" "BBS7(NM_176824.3):c.166-5T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121861684A>G" "" "likely benign" "" "0000258608" "0" "10" "4" "122766731" "122766731" "subst" "0.000382145" "02330" "BBS7_000033" "g.122766731T>C" "" "" "" "BBS7(NM_176824.3):c.1158A>G (p.T386=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121845576T>C" "" "benign" "" "0000258609" "0" "10" "4" "122756305" "122756305" "subst" "0.00141006" "02330" "BBS7_000011" "g.122756305T>C" "" "" "" "BBS7(NM_176824.3):c.1505A>G (p.H502R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121835150T>C" "" "benign" "" "0000258610" "0" "10" "4" "122782814" "122782814" "subst" "0.00170364" "02330" "BBS7_000017" "g.122782814G>A" "" "" "" "BBS7(NM_176824.2):c.186C>T (p.P62=), BBS7(NM_176824.3):c.186C>T (p.P62=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121861659G>A" "" "benign" "" "0000258611" "0" "50" "4" "122782759" "122782759" "subst" "1.21911E-5" "02330" "BBS7_000035" "g.122782759T>C" "" "" "" "BBS7(NM_176824.3):c.241A>G (p.K81E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121861604T>C" "" "VUS" "" "0000259236" "0" "10" "4" "122749541" "122749541" "subst" "0.3496" "02325" "BBS7_000008" "g.122749541C>T" "" "" "" "BBS7(NM_176824.2):c.1890+16G>A, BBS7(NM_176824.3):c.1890+16G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121828386C>T" "" "benign" "" "0000259237" "0" "10" "4" "122749436" "122749436" "subst" "0.76938" "02325" "BBS7_000007" "g.122749436G>T" "" "" "" "BBS7(NM_176824.2):c.1891-12C>A, BBS7(NM_176824.3):c.1891-12C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121828281G>T" "" "benign" "" "0000259713" "0" "50" "4" "122765150" "122765150" "subst" "0" "02325" "BBS7_000012" "g.122765150C>T" "" "" "" "BBS7(NM_176824.3):c.1237G>A (p.V413I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121843995C>T" "" "VUS" "" "0000259714" "0" "50" "4" "122782719" "122782719" "subst" "0" "02325" "BBS7_000015" "g.122782719G>A" "" "" "" "BBS7(NM_176824.3):c.281C>T (p.T94I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121861564G>A" "" "VUS" "" "0000261418" "0" "10" "4" "122756305" "122756305" "subst" "0.00141006" "02326" "BBS7_000011" "g.122756305T>C" "" "" "" "BBS7(NM_176824.3):c.1505A>G (p.H502R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121835150T>C" "" "benign" "" "0000261419" "0" "10" "4" "122754557" "122754557" "subst" "0.00140806" "02326" "BBS7_000032" "g.122754557T>A" "" "" "" "BBS7(NM_176824.2):c.1512-7A>T, BBS7(NM_176824.3):c.1512-7A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121833402T>A" "" "benign" "" "0000263594" "0" "30" "4" "122754557" "122754557" "subst" "0.00140806" "01943" "BBS7_000032" "g.122754557T>A" "" "" "" "BBS7(NM_176824.2):c.1512-7A>T, BBS7(NM_176824.3):c.1512-7A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121833402T>A" "" "likely benign" "" "0000263595" "0" "30" "4" "122754451" "122754451" "subst" "0" "01943" "BBS7_000031" "g.122754451T>C" "" "" "" "BBS7(NM_176824.2):c.1611A>G (p.A537=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121833296T>C" "" "likely benign" "" "0000263596" "0" "30" "4" "122782829" "122782829" "subst" "0.000947995" "01943" "BBS7_000018" "g.122782829C>T" "" "" "" "BBS7(NM_176824.2):c.171G>A (p.V57=), BBS7(NM_176824.3):c.171G>A (p.V57=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121861674C>T" "" "likely benign" "" "0000263597" "0" "90" "4" "122749661" "122749661" "subst" "4.06504E-6" "01943" "BBS7_000009" "g.122749661C>T" "" "" "" "BBS7(NM_176824.2):c.1787-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121828506C>T" "" "pathogenic" "" "0000263598" "0" "10" "4" "122782814" "122782814" "subst" "0.00170364" "01943" "BBS7_000017" "g.122782814G>A" "" "" "" "BBS7(NM_176824.2):c.186C>T (p.P62=), BBS7(NM_176824.3):c.186C>T (p.P62=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121861659G>A" "" "benign" "" "0000263599" "0" "10" "4" "122749541" "122749541" "subst" "0.3496" "01943" "BBS7_000008" "g.122749541C>T" "" "" "" "BBS7(NM_176824.2):c.1890+16G>A, BBS7(NM_176824.3):c.1890+16G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121828386C>T" "" "benign" "" "0000263600" "0" "10" "4" "122749436" "122749436" "subst" "0.76938" "01943" "BBS7_000007" "g.122749436G>T" "" "" "" "BBS7(NM_176824.2):c.1891-12C>A, BBS7(NM_176824.3):c.1891-12C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121828281G>T" "" "benign" "" "0000263601" "0" "50" "4" "122747146" "122747146" "subst" "4.09964E-6" "01943" "BBS7_000029" "g.122747146T>A" "" "" "" "BBS7(NM_176824.2):c.2017A>T (p.M673L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121825991T>A" "" "VUS" "" "0000263602" "0" "50" "4" "122782782" "122782782" "subst" "0" "01943" "BBS7_000016" "g.122782782C>A" "" "" "" "BBS7(NM_176824.2):c.218G>T (p.G73V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121861627C>A" "" "VUS" "" "0000263603" "0" "90" "4" "122789202" "122789202" "del" "0" "01943" "BBS7_000020" "g.122789202del" "" "" "" "BBS7(NM_176824.2):c.37delG (p.V13Wfs*3)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121868047del" "" "pathogenic" "" "0000263604" "0" "50" "4" "122774161" "122774161" "subst" "0" "01943" "BBS7_000014" "g.122774161C>T" "" "" "" "BBS7(NM_176824.2):c.799G>A (p.E267K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121853006C>T" "" "VUS" "" "0000263605" "0" "90" "4" "122768605" "122768605" "subst" "0" "01943" "BBS7_000034" "g.122768605C>A" "" "" "" "BBS7(NM_176824.2):c.991G>T (p.E331*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121847450C>A" "" "pathogenic" "" "0000266557" "0" "10" "4" "122742217" "122742217" "subst" "0.962451" "02325" "CCNA2_000003" "g.122742217T>C" "" "" "" "CCNA2(NM_001237.5):c.487A>G (p.I163V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121821062T>C" "" "benign" "" "0000272855" "0" "50" "4" "122740711" "122740711" "subst" "0" "01943" "CCNA2_000002" "g.122740711G>A" "" "" "" "CCNA2(NM_001237.4):c.818C>T (p.P273L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121819556G>A" "" "VUS" "" "0000330085" "0" "50" "4" "122744765" "122744765" "subst" "0" "01804" "CCNA2_000004" "g.122744765G>A" "" "" "" "CCNA2(NM_001237.3):c.19C>T (p.(Pro7Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121823610G>A" "" "VUS" "" "0000330086" "0" "50" "4" "122780259" "122780259" "subst" "0" "01804" "BBS7_000046" "g.122780259T>A" "" "" "" "BBS7(NM_018190.3):c.416A>T (p.(His139Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121859104T>A" "" "VUS" "" "0000337066" "0" "10" "4" "122749436" "122749436" "subst" "0.76938" "02327" "BBS7_000007" "g.122749436G>T" "" "" "" "BBS7(NM_176824.2):c.1891-12C>A, BBS7(NM_176824.3):c.1891-12C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121828281G>T" "" "benign" "" "0000337067" "0" "10" "4" "122791601" "122791601" "subst" "0" "02327" "BBS7_000027" "g.122791601G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121870446G>C" "" "benign" "" "0000342364" "0" "90" "4" "122775864" "122775867" "del" "0" "02327" "BBS7_000024" "g.122775864_122775867del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121854709_121854712del" "" "pathogenic" "" "0000345836" "0" "70" "4" "122776647" "122776647" "subst" "0" "02327" "BBS7_000025" "g.122776647C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121855492C>A" "" "likely pathogenic" "" "0000349660" "0" "50" "4" "122782720" "122782720" "subst" "0.000499862" "02327" "BBS7_000026" "g.122782720T>A" "" "" "" "BBS7(NM_176824.2):c.280A>T (p.T94S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121861565T>A" "" "VUS" "" "0000356920" "0" "70" "4" "122747139" "122747145" "del" "0" "01807" "BBS7_000024" "g.122747139_122747145del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.121825984_121825990del" "" "likely pathogenic" "" "0000484270" "3" "70" "4" "122749884" "122749884" "subst" "4.43636E-6" "03312" "BBS7_000036" "g.122749884C>T" "" "{PMID:Shaukat 2019:31521835}" "" "" "" "Germline" "yes" "" "0" "" "" "g.121828729C>T" "" "likely pathogenic (recessive)" "" "0000521429" "0" "30" "4" "122749547" "122749548" "del" "9.34488E-5" "02330" "CCNA2_000005" "g.122749547_122749548del" "" "" "" "BBS7(NM_176824.3):c.1890+9_1890+10delAT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121828392_121828393del" "" "likely benign" "" "0000521430" "0" "10" "4" "122750143" "122750143" "dup" "0" "02326" "CCNA2_000006" "g.122750143dup" "" "" "" "BBS7(NM_176824.3):c.1677-258dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121828988dup" "" "benign" "" "0000521431" "0" "50" "4" "122754527" "122754527" "subst" "0" "02330" "BBS7_000037" "g.122754527G>A" "" "" "" "BBS7(NM_176824.3):c.1535C>T (p.T512I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121833372G>A" "" "VUS" "" "0000521432" "0" "30" "4" "122756360" "122756360" "subst" "2.03145E-5" "01804" "BBS7_000038" "g.122756360G>A" "" "" "" "BBS7(NM_018190.3):c.1450C>T (p.(Arg484Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121835205G>A" "" "likely benign" "" "0000521435" "0" "10" "4" "122765070" "122765070" "subst" "2.8001E-5" "02330" "BBS7_000041" "g.122765070A>G" "" "" "" "BBS7(NM_176824.3):c.1305+12T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121843915A>G" "" "benign" "" "0000521436" "0" "30" "4" "122765152" "122765152" "subst" "0.00150666" "02330" "BBS7_000006" "g.122765152T>C" "" "" "" "BBS7(NM_176824.2):c.1235A>G (p.D412G), BBS7(NM_176824.3):c.1235A>G (p.D412G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121843997T>C" "" "likely benign" "" "0000521437" "0" "50" "4" "122765152" "122765152" "subst" "0.00150666" "01943" "BBS7_000006" "g.122765152T>C" "" "" "" "BBS7(NM_176824.2):c.1235A>G (p.D412G), BBS7(NM_176824.3):c.1235A>G (p.D412G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121843997T>C" "" "VUS" "" "0000521438" "0" "30" "4" "122765152" "122765152" "subst" "0.00150666" "02326" "BBS7_000006" "g.122765152T>C" "" "" "" "BBS7(NM_176824.2):c.1235A>G (p.D412G), BBS7(NM_176824.3):c.1235A>G (p.D412G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121843997T>C" "" "likely benign" "" "0000521440" "0" "30" "4" "122766792" "122766792" "subst" "0" "02330" "BBS7_000042" "g.122766792G>T" "" "" "" "BBS7(NM_176824.3):c.1097C>A (p.S366Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121845637G>T" "" "likely benign" "" "0000521442" "0" "50" "4" "122766846" "122766846" "subst" "8.95525E-5" "01943" "BBS7_000044" "g.122766846T>C" "" "" "" "BBS7(NM_176824.2):c.1043A>G (p.E348G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121845691T>C" "" "VUS" "" "0000521443" "0" "50" "4" "122769999" "122769999" "subst" "0" "01804" "BBS7_000045" "g.122769999C>T" "" "" "" "BBS7(NM_018190.3):c.934G>A (p.(Gly312Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121848844C>T" "" "VUS" "" "0000521444" "0" "50" "4" "122782700" "122782700" "subst" "4.06415E-6" "01943" "BBS7_000047" "g.122782700G>C" "" "" "" "BBS7(NM_176824.2):c.300C>G (p.F100L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121861545G>C" "" "VUS" "" "0000597892" "3" "70" "4" "122749884" "122749884" "subst" "4.43636E-6" "03312" "BBS7_000036" "g.122749884C>T" "" "{PMID:Shaukat 2019:31521835}" "" "" "" "Germline" "yes" "" "0" "" "" "g.121828729C>T" "" "likely pathogenic (recessive)" "" "0000597893" "3" "70" "4" "122749884" "122749884" "subst" "4.43636E-6" "03312" "BBS7_000036" "g.122749884C>T" "" "{PMID:Shaukat 2019:31521835}" "" "" "" "Germline" "yes" "" "0" "" "" "g.121828729C>T" "" "likely pathogenic (recessive)" "" "0000597897" "1" "70" "4" "122749884" "122749884" "subst" "4.43636E-6" "03312" "BBS7_000036" "g.122749884C>T" "" "{PMID:Shaukat 2019:31521835}" "" "" "" "Germline" "" "" "0" "" "" "g.121828729C>T" "" "likely pathogenic (recessive)" "" "0000597898" "1" "70" "4" "122749884" "122749884" "subst" "4.43636E-6" "03312" "BBS7_000036" "g.122749884C>T" "" "{PMID:Shaukat 2019:31521835}" "" "" "" "Germline" "yes" "" "0" "" "" "g.121828729C>T" "" "likely pathogenic (recessive)" "" "0000609052" "0" "50" "4" "122749670" "122749670" "subst" "0" "01943" "CCNA2_000008" "g.122749670G>C" "" "" "" "BBS7(NM_176824.2):c.1787-10C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121828515G>C" "" "VUS" "" "0000609053" "0" "90" "4" "122754467" "122754472" "del" "0" "02327" "BBS7_000048" "g.122754467_122754472del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121833312_121833317del" "" "pathogenic" "" "0000638713" "3" "90" "4" "122774110" "122774110" "subst" "0" "03470" "BBS7_000049" "g.122774110C>A" "" "" "" "g.17543G>T" "" "Germline" "" "" "0" "" "" "g.121852955C>A" "" "pathogenic (recessive)" "" "0000651387" "1" "30" "4" "122745813" "122745813" "subst" "0" "03575" "BBS7_000050" "g.122745813C>T" "9/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "9 heterozygous; {DB:CLININrs3217756}" "Germline" "" "rs3217756" "0" "" "" "g.121824658C>T" "" "likely benign" "" "0000651388" "1" "50" "4" "122765152" "122765152" "subst" "0.00150666" "03575" "BBS7_000006" "g.122765152T>C" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; {DB:CLININrs111442398}" "Germline" "" "rs111442398" "0" "" "" "g.121843997T>C" "" "VUS" "" "0000651389" "1" "90" "4" "122780285" "122780286" "del" "0" "03575" "BBS7_000051" "g.122780285_122780286del" "1/2791 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs863224530}" "Germline" "" "rs863224530" "0" "" "" "g.121859130_121859131del" "" "pathogenic" "" "0000655079" "0" "30" "4" "122775938" "122775938" "subst" "0.000377852" "01943" "BBS7_000052" "g.122775938G>A" "" "" "" "BBS7(NM_176824.2):c.639C>T (p.D213=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121854783G>A" "" "likely benign" "" "0000669795" "3" "30" "4" "122745813" "122745813" "subst" "0" "03575" "BBS7_000050" "g.122745813C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs3217756}" "Germline" "" "rs3217756" "0" "" "" "g.121824658C>T" "" "likely benign" "" "0000677177" "0" "50" "4" "122766795" "122766795" "subst" "4.06464E-6" "01943" "BBS7_000053" "g.122766795T>A" "" "" "" "BBS7(NM_176824.2):c.1094A>T (p.Q365L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000677178" "0" "90" "4" "122766828" "122766829" "del" "0" "02330" "BBS7_000043" "g.122766828_122766829del" "" "" "" "BBS7(NM_176824.2):c.1062_1063delTA (p.Y354*), BBS7(NM_176824.3):c.1062_1063delTA (p.Y354*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000685025" "0" "70" "4" "122749774" "122749774" "subst" "8.1485E-6" "00004" "BBS7_000054" "g.122749774C>T" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000685026" "0" "90" "4" "122789150" "122789151" "del" "0" "00004" "BBS7_000055" "g.122789150_122789151del" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "c.87_88delCA" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000689220" "0" "50" "4" "122749303" "122749303" "subst" "1.21915E-5" "01943" "CCNA2_000011" "g.122749303T>C" "" "" "" "BBS7(NM_176824.2):c.2012A>G (p.Y671C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000689221" "0" "50" "4" "122754476" "122754476" "subst" "0" "02325" "BBS7_000056" "g.122754476G>C" "" "" "" "BBS7(NM_176824.3):c.1586C>G (p.P529R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000714076" "3" "70" "4" "122780175" "122780176" "ins" "0" "00000" "BBS7_000057" "g.122780175_122780176insTCATAC" "" "{PMID:Taylor 2017:28341476}" "" "" "" "Germline" "" "" "0" "" "" "g.121859020_121859021insTCATAC" "" "likely pathogenic (recessive)" "" "0000719724" "0" "50" "4" "122756435" "122756435" "subst" "0.00026019" "02330" "BBS7_000039" "g.122756435G>A" "" "" "" "BBS7(NM_176824.3):c.1375C>T (p.R459C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000719725" "0" "90" "4" "122766800" "122766800" "subst" "0" "02330" "BBS7_000013" "g.122766800A>T" "" "" "" "BBS7(NM_176824.3):c.1089T>A (p.Y363*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000759694" "11" "90" "4" "122749645" "122750373" "delins" "0" "00000" "BBS7_000058" "g.122749645_122750373delinsTTAAACA" "" "{PMID:Lindstrand 2016:27486776}" "" "del exon16_17 122749644-122750374del" "730 bp deletion, 7 bp insertion" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000759697" "3" "90" "4" "122789153" "122789154" "del" "0" "00000" "BBS7_000055" "g.122789153_122789154del" "" "{PMID:Lindstrand 2016:27486776}" "" "c.87_88delCA" "" "Germline" "" "" "0" "" "" "g.121867998_121867999del" "" "pathogenic" "" "0000759710" "21" "50" "4" "122780233" "122780233" "subst" "0" "00000" "BBS7_000060" "g.122780233T>G" "" "{PMID:Lindstrand 2016:27486776}" "" "" "" "Germline" "" "" "0" "" "" "g.121859078T>G" "" "VUS" "" "0000759718" "21" "90" "4" "122770055" "122770055" "subst" "4.06507E-6" "00000" "BBS7_000059" "g.122770055T>G" "" "{PMID:Lindstrand 2016:27486776}" "" "" "" "Germline" "" "" "0" "" "" "g.121848900T>G" "" "pathogenic" "" "0000760015" "0" "50" "4" "122791413" "122791413" "subst" "4.08443E-6" "00000" "BBS7_000062" "g.122791413G>A" "" "{PMID:Tiwari 2016:27353947}" "" "" "" "Germline" "" "" "0" "" "" "g.121870258G>A" "" "VUS" "" "0000760153" "3" "50" "4" "122749847" "122749848" "delins" "0" "00000" "BBS7_000061" "g.122749847_122749848delinsTCT" "" "{PMID:Ellingford 2016:27208204}" "" "" "" "Germline" "" "" "0" "" "" "g.121828692_121828693delinsTCT" "" "VUS" "" "0000765536" "3" "90" "4" "122775864" "122775867" "del" "0" "00000" "BBS7_000024" "g.122775864_122775867del" "" "{PMID:Ece Solmaz 2015:26518167}" "" "712_715delAGAG" "" "Germline" "" "" "0" "" "" "g.121854709_121854712del" "" "pathogenic (recessive)" "" "0000765538" "3" "90" "4" "122768647" "122768647" "subst" "0" "00000" "BBS7_000063" "g.122768647G>C" "" "{PMID:Ece Solmaz 2015:26518167}" "" "" "" "Germline" "" "" "0" "" "" "g.121847492G>C" "" "pathogenic (recessive)" "" "0000765760" "0" "70" "4" "122775977" "122775977" "subst" "0" "00000" "BBS7_000064" "g.122775977T>A" "" "{PMID:Patel 2016:26355662}" "" "" "" "Germline" "" "" "0" "" "" "g.121854822T>A" "" "likely pathogenic" "" "0000765769" "0" "70" "4" "122775977" "122775977" "subst" "0" "00000" "BBS7_000064" "g.122775977T>A" "" "{PMID:Patel 2016:26355662}" "" "" "" "Germline" "" "" "0" "" "" "g.121854822T>A" "" "likely pathogenic" "" "0000786408" "1" "90" "4" "122749661" "122749661" "subst" "0" "00000" "BBS7_000065" "g.122749661C>G" "" "{PMID:Consugar 2015:25412400}" "" "" "" "Germline" "yes" "" "0" "" "" "g.121828506C>G" "" "pathogenic (recessive)" "" "0000786475" "2" "90" "4" "122782802" "122782802" "subst" "3.25135E-5" "00000" "BBS7_000066" "g.122782802A>C" "" "{PMID:Consugar 2015:25412400}" "" "" "" "Germline" "yes" "" "0" "" "" "g.121861647A>C" "" "pathogenic (recessive)" "" "0000793703" "3" "90" "4" "122782812" "122782812" "subst" "0" "00000" "BBS7_000068" "g.122782812A>C" "0/90 ethnically matched controls" "{PMID:Harville-2010:19797195}" "" "188T/G (I66M)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000793704" "3" "90" "4" "122782812" "122782812" "subst" "0" "00000" "BBS7_000068" "g.122782812A>C" "0/90 ethnically matched controls" "{PMID:Harville-2010:19797195}" "" "188T/G (I66M)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000793705" "3" "90" "4" "122775889" "122775889" "subst" "0" "00000" "BBS7_000067" "g.122775889A>G" "0/90 ethnically matched controls" "{PMID:Harville-2010:19797195}" "" "688T/C (W320R)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000793706" "3" "90" "4" "122775862" "122775865" "del" "4.88365E-5" "00000" "BBS7_000024" "g.122775862_122775865del" "0/90 ethnically matched controls" "{PMID:Harville-2010:19797195}" "" "711_714delGAGA (R238fsX296)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000793707" "3" "90" "4" "122749774" "122749774" "subst" "8.1485E-6" "00000" "BBS7_000054" "g.122749774C>T" "0/90 ethnically matched controls" "{PMID:Harville-2010:19797195}" "" "1786G/A (E596K)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000793708" "3" "90" "4" "122749774" "122749774" "subst" "8.1485E-6" "00000" "BBS7_000054" "g.122749774C>T" "0/90 ethnically matched controls" "{PMID:Harville-2010:19797195}" "" "1786G/A (E596K)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000794285" "0" "90" "4" "122768595" "122768595" "del" "0" "00000" "BBS7_000069" "g.122768595del" "" "{PMID:Wang 2018:30029497}" "" "NM_176824.2:c.1002del, NP_789794.1:p.(Asn335IlefsTer47), NC_000004.11:g.122768595del" "" "Germline" "?" "" "0" "" "" "g.121847440del" "" "pathogenic" "ACMG" "0000794286" "0" "90" "4" "122782713" "122782714" "del" "0" "00000" "BBS7_000070" "g.122782713_122782714del" "" "{PMID:Wang 2018:30029497}" "" "NM_176824.2:c.288_289del, NP_789794.1:p.(Gly97LysfsTer7), NC_000004.11:g.122782713_122782714del" "" "Germline" "?" "" "0" "" "" "g.121861558_121861559del" "" "pathogenic" "ACMG" "0000795029" "0" "90" "4" "122792971" "122792971" "del" "0" "00000" "BBS7_000068" "g.122792971delG" "" "{PMID:M\'hamdi 2014:23432027}" "" "c.-1503delC" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000795038" "0" "90" "4" "122746286" "122746286" "del" "0" "00000" "BBS7_000068" "g.122746286delG" "" "{PMID:M\'hamdi 2014:23432027}" "" "c.*729del C" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000795947" "3" "90" "4" "122768594" "122768594" "del" "0" "00000" "BBS7_000069" "g.122768594delA" "" "{PMID:Chen-2013:23462753}" "" "c.1002delT(p.Ile334Ilefs*15)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000796279" "0" "90" "4" "122774232" "122774232" "subst" "4.0665E-5" "00000" "BBS7_000071" "g.122774232C>T" "" "{PMID:Wang-2013:23847139}" "" "c.728G>A" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000797945" "0" "70" "4" "122756435" "122756435" "subst" "0.00026019" "00000" "BBS7_000039" "g.122756435G>A" "" "{PMID:Jespersgaar 2019:30718709}" "" "BBS7 c.1375C>T, p.(Arg459Cys)" "single heterozygous variant (recessive)" "Germline" "?" "" "0" "" "" "g.121835280G>A" "" "likely pathogenic" "ACMG" "0000801484" "0" "90" "4" "122766828" "122766829" "del" "0" "01943" "BBS7_000043" "g.122766828_122766829del" "" "" "" "BBS7(NM_176824.2):c.1062_1063delTA (p.Y354*), BBS7(NM_176824.3):c.1062_1063delTA (p.Y354*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000810958" "0" "90" "4" "122782804" "122782804" "subst" "0" "00000" "BBS7_000072" "g.122782804T>A" "" "{PMID:Hichri-2005:15770229}" "" "c.196A>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000811052" "0" "70" "4" "122782813" "122782813" "subst" "1.62616E-5" "00000" "BBS7_000080" "g.122782813C>T" "" "{PMID:Bin-2009:19402160}" "" "p.[G63R]+" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000811053" "0" "70" "4" "122776642" "122776642" "subst" "0" "00000" "BBS7_000077" "g.122776642A>G" "" "{PMID:Bin-2009:19402160}" "" "[G201_D202ins15or16]**" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000811054" "0" "70" "4" "122782813" "122782813" "subst" "1.62616E-5" "00000" "BBS7_000080" "g.122782813C>T" "" "{PMID:Bin-2009:19402160}" "" "p.[G63R]+" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000811055" "0" "70" "4" "122776642" "122776642" "subst" "0" "00000" "BBS7_000077" "g.122776642A>G" "" "{PMID:Bin-2009:19402160}" "" "[G201_D202ins15or16]**" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000811056" "0" "70" "4" "122775862" "122775865" "del" "4.88365E-5" "00000" "BBS7_000024" "g.122775862_122775865del" "" "{PMID:Bin-2009:19402160}" "" "p.[R238EfsX59]+" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000811057" "0" "70" "4" "122766768" "122766768" "subst" "4.06451E-6" "00000" "BBS7_000074" "g.122766768G>C" "" "{PMID:Bin-2009:19402160}" "" "[Ser374X]" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000811060" "3" "50" "4" "122782829" "122782829" "subst" "0.000947995" "00000" "BBS7_000018" "g.122782829C>T" "" "{PMID:Bin-2009:19402160}" "" "*p.[V57V]+[=]" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000811107" "0" "30" "4" "122749839" "122749839" "subst" "8.15581E-6" "00000" "BBS7_000073" "g.122749839G>C" "" "{PMID:Muller-2010:20177705}" "" "c.1721C>G" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000811126" "2" "90" "4" "122749347" "122749348" "delins" "0" "00000" "BBS7_000004" "g.122749347_122749348delinsG" "" "{PMID:Muller-2010:20177705}" "" "c.1967-1968delTAinsC" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000811127" "1" "90" "4" "122780146" "122780146" "subst" "0" "00000" "BBS7_000078" "g.122780146C>T" "" "{PMID:Muller-2010:20177705}" "" "c.528+1G>A" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000811131" "0" "70" "4" "122782660" "122782660" "subst" "3.68629E-5" "00000" "BBS7_000079" "g.122782660T>C" "" "{PMID:Muller-2010:20177705}, {PMID:Stoetzel 2006:16308660}" "" "c.340A>G" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000811341" "3" "70" "4" "122775945" "122775945" "subst" "4.06276E-6" "00000" "BBS7_000076" "g.122775945G>A" "" "{PMID:Eichers-2009:15224652}, Katsanis 2001" "" "T211I" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000811698" "3" "90" "4" "122774197" "122774197" "subst" "0" "00000" "BBS7_000075" "g.122774197T>A" "" "{PMID:Manara 2019:31196119}" "" "BBS7 c.763A>T, p.(Lys255*)" "homozygous" "Germline" "yes" "" "0" "" "" "g.121853042T>A" "" "pathogenic" "ACMG" "0000813076" "0" "70" "4" "122774122" "122774122" "subst" "1.21973E-5" "00000" "BBS7_000084" "g.122774122G>A" "" "{PMID:Feuillan-2011:21209035}" "" "c.838C>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000813077" "0" "70" "4" "122756347" "122756348" "del" "0" "00000" "BBS7_000082" "g.122756347_122756348del" "" "{PMID:Feuillan-2011:21209035}" "" "c.1462_1463delAT" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000813078" "3" "70" "4" "122782802" "122782802" "subst" "3.25135E-5" "00000" "BBS7_000066" "g.122782802A>C" "" "{PMID:Feuillan-2011:21209035}" "" "c.198T>G" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000813079" "0" "70" "4" "122775937" "122775937" "subst" "4.06296E-6" "00000" "BBS7_000086" "g.122775937C>T" "" "{PMID:Feuillan-2011:21209035}" "" "c.640G>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000813080" "0" "70" "4" "122754482" "122754482" "dup" "0" "00000" "BBS7_000081" "g.122754482dupA" "" "{PMID:Feuillan-2011:21209035}" "" "c.1580dupT" "T not found at position 1764, found G instead." "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000813265" "0" "50" "4" "122769967" "122769967" "subst" "0.231993" "00000" "BBS7_000083" "g.122769967T>C" "" "{PMID:Abu-Safieh-2012:22353939}" "" "c.934+32A>G" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000813266" "3" "70" "4" "122775977" "122775977" "subst" "0" "00000" "BBS7_000064" "g.122775977T>A" "0/96 ethnically matched controls" "{PMID:Abu-Safieh-2012:22353939}" "" "c.602-2A>T no RNA available" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000813267" "3" "70" "4" "122775977" "122775977" "subst" "0" "00000" "BBS7_000064" "g.122775977T>A" "0/96 ethnically matched controls" "{PMID:Abu-Safieh-2012:22353939}" "" "c.602-2A>T no RNA available" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000813268" "3" "70" "4" "122775977" "122775977" "subst" "0" "00000" "BBS7_000064" "g.122775977T>A" "0/96 ethnically matched controls" "{PMID:Abu-Safieh-2012:22353939}" "" "c.602-2A>T no RNA available" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000813291" "0" "50" "4" "122769967" "122769967" "subst" "0.231993" "00000" "BBS7_000083" "g.122769967T>C" "" "{PMID:Abu-Safieh-2012:22353939}" "" "c.934+32A>G" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000813297" "0" "50" "4" "122769967" "122769967" "subst" "0.231993" "00000" "BBS7_000083" "g.122769967T>C" "" "{PMID:Abu-Safieh-2012:22353939}, Abu-Safieh 2010" "" "c.934+32A>G" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000813310" "0" "50" "4" "122776815" "122776815" "subst" "0" "00000" "BBS7_000087" "g.122776815A>T" "" "{PMID:Abu-Safieh-2012:22353939}" "" "c.529-99T>A" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000813316" "0" "50" "4" "122776815" "122776815" "subst" "0" "00000" "BBS7_000087" "g.122776815A>T" "" "{PMID:Abu-Safieh-2012:22353939}" "" "c.529-99T>A" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000813332" "0" "50" "4" "122776815" "122776815" "subst" "0" "00000" "BBS7_000087" "g.122776815A>T" "" "{PMID:Abu-Safieh-2012:22353939}" "" "c.529-99T>A" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000813922" "3" "70" "4" "122775945" "122775945" "subst" "4.06276E-6" "00000" "BBS7_000076" "g.122775945G>A" "" "{PMID:Chen-2011:21642631}" "" "c.632C>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000813968" "3" "70" "4" "122775864" "122775867" "del" "0" "00000" "BBS7_000085" "g.122775864_122775867delCTCT" "" "{PMID:Chen-2011:21642631}" "" "c.710_713delAGAG" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000813969" "3" "70" "4" "122775945" "122775945" "subst" "4.06276E-6" "00000" "BBS7_000076" "g.122775945G>A" "" "{PMID:Chen-2011:21642631}" "" "c.632C>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000813970" "3" "70" "4" "122775945" "122775945" "subst" "4.06276E-6" "00000" "BBS7_000076" "g.122775945G>A" "" "{PMID:Chen-2011:21642631}" "" "c.632C>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000814018" "0" "50" "4" "122765152" "122765152" "subst" "0.00150666" "00000" "BBS7_000006" "g.122765152T>C" "" "{PMID:Redin-2012:22773737}" "" "BBS7:p.[D412G];[=]" "normal 2nd chromosome" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000814068" "0" "50" "4" "122792971" "122792971" "del" "0" "00000" "BBS7_000068" "g.122792971delG" "" "{PMID:M\'hamdi-2014:23432027}" "" "BBS7: c.-1503delC" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000814078" "0" "50" "4" "122746286" "122746286" "del" "0" "00000" "BBS7_000068" "g.122746286delG" "" "{PMID:M\'hamdi-2014:23432027}" "" "BBS7: c.*729del C" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000814145" "1" "70" "4" "122782829" "122782829" "subst" "0.000947995" "00000" "BBS7_000018" "g.122782829C>T" "" "{PMID:Deveault-2011:21344540}" "" "[p.T501M];[p.R525H" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000814174" "2" "70" "4" "122776642" "122776642" "subst" "0" "00000" "BBS7_000077" "g.122776642A>G" "" "{PMID:Deveault-2011:21344540}" "" "[p.Q293E];[p.F372XfsX1]" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000814176" "3" "70" "4" "0" "0" "" "0" "00000" "TRAPPC11_000000" "g.?" "" "{PMID:Deveault-2011:21344540}" "" "M390R/M390R" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000814177" "3" "70" "4" "122776642" "122776642" "subst" "0" "00000" "BBS7_000077" "g.122776642A>G" "" "{PMID:Deveault-2011:21344540}" "" "M390R/M390R" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000814178" "3" "70" "4" "0" "0" "" "0" "00000" "TRAPPC11_000000" "g.?" "" "{PMID:Deveault-2011:21344540}" "" "M390R/M390R" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000814179" "3" "70" "4" "0" "0" "" "0" "00000" "TRAPPC11_000000" "g.?" "" "{PMID:Deveault-2011:21344540}" "" "M390R/M390R" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000814180" "3" "70" "4" "0" "0" "" "0" "00000" "TRAPPC11_000000" "g.?" "" "{PMID:Deveault-2011:21344540}" "" "M390R/M390R" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000814526" "3" "90" "4" "122770055" "122770055" "subst" "4.06507E-6" "00000" "BBS7_000059" "g.122770055T>G" "0.046" "{PMID:Janssen-2011:21052717}" "" "c.878A>C(H)" "Family AR14 (A2824) has previously been published for a heterozygous change in BBS12 (p.G540D) present in individual ‘-04’ (but not ‘-08’) by Stoetzel et al. 2007" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000814585" "0" "70" "4" "122770055" "122770055" "subst" "4.06507E-6" "00000" "BBS7_000059" "g.122770055T>G" "4.6% ; absent in 96 controls" "{PMID:Janssen-2011:21052717}" "" "c.878A>C(h)" "unknown variant 2nd chromosome" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000814660" "3" "90" "4" "122789150" "122789151" "del" "0" "00000" "BBS7_000055" "g.122789150_122789151del" "" "{PMID:Lindstrand-2014:24746959}" "" "c.87_88delCA(p.His29Glnfs*12);hom" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000814662" "3" "90" "4" "122789150" "122789151" "del" "0" "00000" "BBS7_000055" "g.122789150_122789151del" "" "{PMID:Lindstrand-2014:24746959}" "" "c.87_88delCA(p.His29Glnfs*12);hom" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000815047" "0" "90" "4" "122760811" "122760815" "del" "0" "00000" "BBS7_000089" "g.122760811_122760815del" "" "{PMID:Fattahi 2014:24849935}" "" "c.1342_1346delCAGGC" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000815048" "0" "90" "4" "122756367" "122756367" "subst" "0" "00000" "BBS7_000088" "g.122756367A>T" "" "{PMID:Fattahi 2014:24849935}" "" "c.1443T>A" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000817534" "3" "70" "4" "122774232" "122774232" "subst" "4.0665E-5" "00000" "BBS7_000071" "g.122774232C>T" "" "{PMID:Knopp 2015:26003401}" "" "p.Cys243Tyr" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000817535" "3" "70" "4" "122774232" "122774232" "subst" "4.0665E-5" "00000" "BBS7_000071" "g.122774232C>T" "" "{PMID:Knopp 2015:26003401}" "" "p.Cys243Tyr" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000817536" "3" "70" "4" "122774232" "122774232" "subst" "4.0665E-5" "00000" "BBS7_000071" "g.122774232C>T" "" "{PMID:Knopp 2015:26003401}" "" "p.Cys243Tyr" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000817537" "3" "70" "4" "122774232" "122774232" "subst" "4.0665E-5" "00000" "BBS7_000071" "g.122774232C>T" "" "{PMID:Knopp 2015:26003401}" "" "p.Cys243Tyr" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000817584" "3" "90" "4" "122774232" "122774232" "subst" "4.0665E-5" "00000" "BBS7_000071" "g.122774232C>T" "" "{PMID:Hirano 2015:26325687}" "" "p.C243Y" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000818631" "11" "90" "4" "122768595" "122768595" "del" "0" "00000" "BBS7_000069" "g.122768595del" "" "{PMID:Tao 2020:32448990}" "" "c.1002delT, p.N335Ifs*47" "Compound heterozygous" "Germline" "yes" "" "0" "" "" "g.121847440del" "" "pathogenic (recessive)" "ACMG" "0000818632" "3" "90" "4" "122768595" "122768595" "del" "0" "00000" "BBS7_000069" "g.122768595del" "" "{PMID:Tao 2020:32448990}" "" "c.1002delT, p.N335Ifs" "Homozygous" "Germline" "yes" "" "0" "" "" "g.121847440del" "" "pathogenic (recessive)" "ACMG" "0000818637" "21" "90" "4" "122782713" "122782714" "del" "0" "00000" "BBS7_000070" "g.122782713_122782714del" "" "{PMID:Tao 2020:32448990}" "" "c.288_289delAG, p.G97Kfs*7" "Compound heterozygous" "Germline" "yes" "" "0" "" "" "g.121861558_121861559del" "" "pathogenic (recessive)" "ACMG" "0000818640" "3" "90" "4" "122776663" "122776665" "del" "0" "00000" "BBS7_000090" "g.122776663_122776665del" "" "{PMID:Ullah-2017:28761321}" "" "c.580_582delGCA" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000818641" "3" "90" "4" "122776663" "122776665" "del" "0" "00000" "BBS7_000090" "g.122776663_122776665del" "" "{PMID:Ullah-2017:28761321}" "" "c.580_582delGCA" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000818642" "3" "90" "4" "122776663" "122776665" "del" "0" "00000" "BBS7_000090" "g.122776663_122776665del" "" "{PMID:Ullah-2017:28761321}" "" "c.580_582delGCA" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000818643" "3" "90" "4" "122754465" "122754470" "del" "1.6253E-5" "00000" "BBS7_000048" "g.122754465_122754470del" "" "{PMID:Ullah-2017:28761321}" "" "c.1592_1597delTTCCAG" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000818644" "3" "90" "4" "122754465" "122754470" "del" "1.6253E-5" "00000" "BBS7_000048" "g.122754465_122754470del" "" "{PMID:Ullah-2017:28761321}" "" "c.1592_1597delTTCCAG" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000818645" "3" "90" "4" "122754465" "122754470" "del" "1.6253E-5" "00000" "BBS7_000048" "g.122754465_122754470del" "" "{PMID:Ullah-2017:28761321}" "" "c.1592_1597delTTCCAG" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000818646" "3" "90" "4" "122754465" "122754470" "del" "1.6253E-5" "00000" "BBS7_000048" "g.122754465_122754470del" "" "{PMID:Ullah-2017:28761321}" "" "c.1592_1597delTTCCAG" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000819016" "3" "70" "4" "122774232" "122774232" "subst" "4.0665E-5" "00000" "BBS7_000071" "g.122774232C>T" "" "{PMID:Hirano 2020:32451492}" "" "BBS7 p.C243Y, homo" "no c. position written in publication, probable position given - RCV001384254.1" "Germline" "?" "" "0" "" "" "g.121853077C>T" "" "likely pathogenic" "" "0000819404" "1" "70" "4" "122775864" "122775867" "del" "0" "00000" "BBS7_000024" "g.122775864_122775867del" "" "{PMID:Weisschuh 2020:32531858}" "" "BBS7, variant 1: c.712_715del/p.R238Efs*59, variant 2: c.790G>A/p.G264R" "possibly solved, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.121854709_121854712del" "" "likely pathogenic" "" "0000819450" "1" "70" "4" "122768628" "122768628" "subst" "2.84477E-5" "00000" "BBS7_000091" "g.122768628T>C" "" "{PMID:Weisschuh 2020:32531858}" "" "BBS7, variant 1: c.968A>G/p.H323R, variant 2: c.968A>G/p.H323R" "solved, homozygous" "Unknown" "?" "" "0" "" "" "g.121847473T>C" "" "likely pathogenic" "" "0000820635" "1" "70" "4" "122774170" "122774170" "subst" "0" "00000" "BBS7_000092" "g.122774170C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "BBS7, variant 1: c.712_715del/p.R238Efs*59, variant 2: c.790G>A/p.G264R" "possibly solved, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.121853015C>T" "" "likely pathogenic" "" "0000822757" "3" "70" "4" "122774110" "122774110" "subst" "0" "00000" "BBS7_000049" "g.122774110C>A" "" "{PMID:Gumus 2021:32686083}" "" "BBS7* (NM_176824) (LOVD#0000638713), c.849+1G > T, Splice site" "homozygous" "Germline" "?" "" "0" "" "" "g.121852955C>A" "" "likely pathogenic" "" "0000822962" "3" "70" "4" "122768628" "122768628" "subst" "2.84477E-5" "00000" "BBS7_000091" "g.122768628T>C" "" "{PMID:Méjécase 2020:32783370}" "" "BBS7 c.968A>G p.(His323Arg)" "homozygous" "Unknown" "?" "" "0" "" "" "g.121847473T>C" "" "likely pathogenic" "" "0000824915" "3" "90" "4" "122768595" "122768595" "del" "0" "00000" "BBS7_000069" "g.122768595del" "" "{PMID:Meng 2021:33777945}" "" "BBS7 c.1002delT, p.N335Ifs*47" "homozygous" "Germline" "yes" "" "0" "" "" "g.121847440del" "" "pathogenic" "ACMG" "0000824916" "11" "90" "4" "122774232" "122774232" "subst" "4.0665E-5" "00000" "BBS7_000071" "g.122774232C>T" "" "{PMID:Meng 2021:33777945}" "" "BBS7 c.728G > A, p.C243Y" "heterozygous" "Germline" "yes" "rs727503821" "0" "" "" "g.121853077C>T" "" "pathogenic" "ACMG" "0000824925" "21" "90" "4" "122756415" "122756415" "subst" "0" "00000" "BBS7_000093" "g.122756415A>T" "" "{PMID:Meng 2021:33777945}" "" "BBS7 c.1395T > A, p.Y465*" "heterozygous" "Germline" "yes" "" "0" "" "" "g.121835260A>T" "" "pathogenic" "ACMG" "0000827120" "3" "90" "4" "122749347" "122749347" "del" "8.53388E-5" "00000" "BBS7_000094" "g.122749347del" "" "{PMID:Jeziorny-2020:33138063}" "" "c.1968delA" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000828492" "1" "70" "4" "122756439" "122756439" "subst" "0" "00000" "BBS7_000095" "g.122756439C>G" "" "{PMID:Perea-Romero 2021:34448047}" "" "BBS7, c.1372-1G>C, p.?, compound heterozygous" "" "Germline" "yes" "" "0" "" "" "g.121835284C>G" "" "likely pathogenic" "ACMG" "0000828493" "2" "70" "4" "122770038" "122770039" "del" "0" "00000" "BBS7_000096" "g.122770038_122770039del" "" "{PMID:Perea-Romero 2021:34448047}" "" "BBS7, c.896_897delAA, p.Lys299Argfs*4, compound heterozygous" "" "Germline" "yes" "" "0" "" "" "g.121848883_121848884del" "" "likely pathogenic" "ACMG" "0000830042" "1" "90" "4" "122780285" "122780286" "del" "0" "00000" "BBS7_000051" "g.122780285_122780286del" "" "{PMID:Mary-2019:30614526}" "" "c.[389_390del];[389_390del]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000830043" "2" "90" "4" "122780285" "122780286" "del" "0" "00000" "BBS7_000051" "g.122780285_122780286del" "" "{PMID:Mary-2019:30614526}" "" "c.[389_390del];[389_390del]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000850516" "0" "50" "4" "122749376" "122749376" "subst" "0" "01943" "CCNA2_000012" "g.122749376G>T" "" "" "" "BBS7(NM_176824.2):c.1939C>A (p.H647N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000859219" "0" "70" "4" "122768628" "122768628" "subst" "2.84477E-5" "02326" "BBS7_000091" "g.122768628T>C" "" "" "" "BBS7(NM_176824.3):c.968A>G (p.H323R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000859220" "0" "30" "4" "122782720" "122782720" "subst" "0.000499862" "01943" "BBS7_000026" "g.122782720T>A" "" "" "" "BBS7(NM_176824.2):c.280A>T (p.T94S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000878686" "3" "70" "4" "122775977" "122775977" "subst" "0" "00000" "BBS7_000064" "g.122775977T>A" "" "{PMID:Aldahmesh 2014:24488770}" "" "BBS7 c.602-2A>T, p.?" "homozygous" "Germline" "?" "" "0" "" "" "g.121854822T>A" "" "likely pathogenic" "" "0000878687" "3" "70" "4" "122775977" "122775977" "subst" "0" "00000" "BBS7_000064" "g.122775977T>A" "" "{PMID:Aldahmesh 2014:24488770}" "" "BBS7 c.602-2A>T, p.?" "homozygous" "Germline" "?" "" "0" "" "" "g.121854822T>A" "" "likely pathogenic" "" "0000879141" "3" "70" "4" "122780285" "122780286" "del" "0" "00000" "BBS7_000051" "g.122780285_122780286del" "" "{PMID:Shen 2019:30839500}" "" "BBS7 c.389_390delAC, p.Asn130ThrfsX3" "homozygous" "Germline" "yes" "" "0" "" "" "g.121859130_121859131del" "" "likely pathogenic" "" "0000879142" "3" "70" "4" "122780285" "122780286" "del" "0" "00000" "BBS7_000051" "g.122780285_122780286del" "" "{PMID:Shen 2019:30839500}" "" "BBS7 c.389_390delAC, p.Asn130ThrfsX3" "homozygous" "Germline" "yes" "" "0" "" "" "g.121859130_121859131del" "" "likely pathogenic" "" "0000879143" "3" "70" "4" "122780285" "122780286" "del" "0" "00000" "BBS7_000051" "g.122780285_122780286del" "" "{PMID:Shen 2019:30839500}" "" "BBS7 c.389_390delAC, p.Asn130ThrfsX3" "homozygous" "Germline" "yes" "" "0" "" "" "g.121859130_121859131del" "" "likely pathogenic" "" "0000880165" "3" "90" "4" "122754385" "122770084" "del" "0" "00006" "BBS7_000097" "g.(122749884_122754385)_(122770084_122774110)del" "" "{PMID:Smaoui 2006:16877420}" "" "del ex9-15 .47247455_47267458del20004insATA" "" "Germline" "" "" "0" "" "" "g.(121828729_121833230)_(121848929_121852955)del" "" "pathogenic (recessive)" "" "0000880192" "0" "10" "4" "122782879" "122782879" "subst" "0.305269" "00006" "BBS7_000102" "g.122782879G>A" "6/19 families BBS" "{PMID:Smaoui 2006:16877420}" "" "" "" "Germline" "" "" "0" "" "" "g.121861724G>A" "" "benign" "" "0000880193" "0" "10" "4" "122779974" "122779974" "=" "0" "00006" "BBS7_000101" "g.122779974=" "6/19 families BBS" "{PMID:Smaoui 2006:16877420}" "" "" "" "Germline" "" "rs2661555" "0" "" "" "g.121858819=" "" "benign" "" "0000880194" "0" "10" "4" "122769969" "122769972" "del" "0" "00006" "BBS7_000100" "g.122769969_122769972del" "5/19 families BBS" "{PMID:Smaoui 2006:16877420}" "" "NM_018190:934+31delAAGA" "" "Germline" "" "" "0" "" "" "g.121848814_121848817del" "" "benign" "" "0000880195" "0" "10" "4" "122769967" "122769967" "subst" "0.231993" "00006" "BBS7_000083" "g.122769967T>C" "4/19 families BBS" "{PMID:Smaoui 2006:16877420}" "" "" "" "Germline" "" "rs6824258" "0" "" "" "g.121848812T>C" "" "benign" "" "0000880196" "0" "10" "4" "122766848" "122766848" "subst" "0" "00006" "BBS7_000099" "g.122766848A>G" "1/19 families BBS" "{PMID:Smaoui 2006:16877420}" "" "" "" "Germline" "" "" "0" "" "" "g.121845693A>G" "" "benign" "" "0000880197" "0" "10" "4" "122756274" "122756274" "subst" "0.0334198" "00006" "BBS7_000098" "g.122756274G>T" "2/19 families BBS" "{PMID:Smaoui 2006:16877420}" "" "" "" "Germline" "" "" "0" "" "" "g.121835119G>T" "" "benign" "" "0000886111" "0" "30" "4" "122782809" "122782809" "subst" "6.09776E-5" "02326" "BBS7_000103" "g.122782809G>A" "" "" "" "BBS7(NM_176824.3):c.191C>T (p.P64L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886112" "0" "10" "4" "122782829" "122782829" "subst" "0.000947995" "02330" "BBS7_000018" "g.122782829C>T" "" "" "" "BBS7(NM_176824.2):c.171G>A (p.V57=), BBS7(NM_176824.3):c.171G>A (p.V57=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000912046" "0" "30" "4" "122782808" "122782808" "subst" "1.21954E-5" "02330" "BBS7_000104" "g.122782808C>T" "" "" "" "BBS7(NM_176824.3):c.192G>A (p.P64=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912047" "0" "10" "4" "122782814" "122782814" "subst" "0.00170364" "02326" "BBS7_000017" "g.122782814G>A" "" "" "" "BBS7(NM_176824.2):c.186C>T (p.P62=), BBS7(NM_176824.3):c.186C>T (p.P62=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000924053" "0" "30" "4" "122765124" "122765124" "subst" "0" "02330" "BBS7_000105" "g.122765124A>G" "" "" "" "BBS7(NM_176824.3):c.1263T>C (p.D421=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000958087" "0" "90" "4" "122775864" "122775867" "del" "0" "00006" "BBS7_000024" "g.122775864_122775867del" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1_MODERATE, PP5_STRONG, PS4_MODERATE" "Germline" "" "" "0" "" "" "g.121854709_121854712del" "281626" "pathogenic (recessive)" "ACMG" "0000958471" "0" "70" "4" "122768628" "122768628" "subst" "2.84477E-5" "00006" "BBS7_000091" "g.122768628T>C" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PP5_STRONG" "Germline" "" "" "0" "" "" "g.121847473T>C" "3015" "likely pathogenic (recessive)" "ACMG" "0000962994" "0" "10" "4" "122782808" "122782808" "subst" "1.21954E-5" "02326" "BBS7_000104" "g.122782808C>T" "" "" "" "BBS7(NM_176824.3):c.192G>A (p.P64=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000962995" "0" "30" "4" "122784445" "122784445" "subst" "8.12863E-6" "02330" "BBS7_000106" "g.122784445T>C" "" "" "" "BBS7(NM_176824.3):c.103-11A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000962996" "0" "30" "4" "122791458" "122791458" "subst" "0.000256164" "02326" "BBS7_000107" "g.122791458A>G" "" "" "" "BBS7(NM_176824.3):c.11T>C (p.I4T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976096" "0" "50" "4" "122789192" "122789192" "subst" "0" "01804" "BBS7_000108" "g.122789192T>C" "" "" "" "BBS7(NM_176824.3):c.46A>G (p.(Thr16Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001030312" "3" "70" "4" "122780302" "122780302" "subst" "0" "00764" "BBS7_000109" "g.122780302C>T" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.121859147C>T" "" "VUS" "ACMG" "0001034302" "0" "30" "4" "122749668" "122749668" "subst" "0" "01804" "CCNA2_000020" "g.122749668G>A" "" "" "" "BBS7(NM_176824.3):c.1787-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034303" "0" "50" "4" "122754438" "122754438" "subst" "0" "01804" "BBS7_000110" "g.122754438T>C" "" "" "" "BBS7(NM_176824.3):c.1624A>G (p.(Thr542Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034304" "0" "50" "4" "122756429" "122756429" "subst" "7.31713E-5" "01804" "BBS7_000111" "g.122756429T>C" "" "" "" "BBS7(NM_176824.3):c.1381A>G (p.(Ile461Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034305" "0" "50" "4" "122760933" "122760933" "dup" "0" "01804" "BBS7_000112" "g.122760933dup" "" "" "" "BBS7(NM_176824.3):c.1306-82dup" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034306" "0" "70" "4" "122774110" "122774110" "subst" "4.06613E-6" "01804" "BBS7_000113" "g.122774110C>T" "" "" "" "BBS7(NM_176824.3):c.849+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001034307" "0" "50" "4" "122775958" "122775958" "subst" "4.06312E-6" "01804" "BBS7_000114" "g.122775958G>A" "" "" "" "BBS7(NM_176824.3):c.619C>T (p.(Leu207Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034308" "0" "50" "4" "122782738" "122782738" "subst" "1.21902E-5" "01804" "BBS7_000115" "g.122782738A>C" "" "" "" "BBS7(NM_176824.3):c.262T>G (p.(Ser88Ala))" "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 BBS7 ## Count = 209 "{{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}}" "0000074351" "00024045" "90" "1967" "0" "1968" "0" "c.1967_1968delinsC" "r.(?)" "p.(Leu656Profs*18)" "18" "0000079508" "00024045" "00" "1235" "0" "1235" "0" "c.1235A>G" "r.(?)" "p.(Asp412Gly)" "" "0000079682" "00024045" "00" "14" "0" "14" "0" "c.14T>A" "r.(?)" "p.(Leu5*)" "" "0000246242" "00024045" "10" "2046" "0" "2046" "0" "c.2046T>C" "r.(?)" "p.(Phe682=)" "" "0000251831" "00024045" "30" "1653" "0" "1653" "0" "c.1653T>A" "r.(?)" "p.(Asp551Glu)" "" "0000252082" "00024045" "30" "166" "-5" "166" "-5" "c.166-5T>C" "r.spl?" "p.?" "" "0000258608" "00024045" "10" "1158" "0" "1158" "0" "c.1158A>G" "r.(?)" "p.(Thr386=)" "" "0000258609" "00024045" "10" "1505" "0" "1505" "0" "c.1505A>G" "r.(?)" "p.(His502Arg)" "" "0000258610" "00024045" "10" "186" "0" "186" "0" "c.186C>T" "r.(?)" "p.(Pro62=)" "" "0000258611" "00024045" "50" "241" "0" "241" "0" "c.241A>G" "r.(?)" "p.(Lys81Glu)" "" "0000259236" "00024045" "10" "1890" "16" "1890" "16" "c.1890+16G>A" "r.(=)" "p.(=)" "" "0000259237" "00024045" "10" "1891" "-12" "1891" "-12" "c.1891-12C>A" "r.(=)" "p.(=)" "" "0000259713" "00024045" "50" "1237" "0" "1237" "0" "c.1237G>A" "r.(?)" "p.(Val413Ile)" "" "0000259714" "00024045" "50" "281" "0" "281" "0" "c.281C>T" "r.(?)" "p.(Thr94Ile)" "" "0000261418" "00024045" "10" "1505" "0" "1505" "0" "c.1505A>G" "r.(?)" "p.(His502Arg)" "" "0000261419" "00024045" "10" "1512" "-7" "1512" "-7" "c.1512-7A>T" "r.(=)" "p.(=)" "" "0000263594" "00024045" "30" "1512" "-7" "1512" "-7" "c.1512-7A>T" "r.(=)" "p.(=)" "" "0000263595" "00024045" "30" "1611" "0" "1611" "0" "c.1611A>G" "r.(?)" "p.(Ala537=)" "" "0000263596" "00024045" "30" "171" "0" "171" "0" "c.171G>A" "r.(?)" "p.(Val57=)" "" "0000263597" "00024045" "90" "1787" "-1" "1787" "-1" "c.1787-1G>A" "r.spl?" "p.?" "" "0000263598" "00024045" "10" "186" "0" "186" "0" "c.186C>T" "r.(?)" "p.(Pro62=)" "" "0000263599" "00024045" "10" "1890" "16" "1890" "16" "c.1890+16G>A" "r.(=)" "p.(=)" "" "0000263600" "00024045" "10" "1891" "-12" "1891" "-12" "c.1891-12C>A" "r.(=)" "p.(=)" "" "0000263601" "00024045" "50" "2017" "0" "2017" "0" "c.2017A>T" "r.(?)" "p.(Met673Leu)" "" "0000263602" "00024045" "50" "218" "0" "218" "0" "c.218G>T" "r.(?)" "p.(Gly73Val)" "" "0000263603" "00024045" "90" "37" "0" "37" "0" "c.37del" "r.(?)" "p.(Val13TrpfsTer3)" "" "0000263604" "00024045" "50" "799" "0" "799" "0" "c.799G>A" "r.(?)" "p.(Glu267Lys)" "" "0000263605" "00024045" "90" "991" "0" "991" "0" "c.991G>T" "r.(?)" "p.(Glu331Ter)" "" "0000266557" "00024045" "10" "6946" "0" "6946" "0" "c.*4798A>G" "r.(=)" "p.(=)" "" "0000272855" "00024045" "50" "8452" "0" "8452" "0" "c.*6304C>T" "r.(=)" "p.(=)" "" "0000330085" "00024045" "50" "4398" "0" "4398" "0" "c.*2250C>T" "r.(=)" "p.(=)" "" "0000330086" "00024045" "50" "416" "0" "416" "0" "c.416A>T" "r.(?)" "p.(His139Leu)" "" "0000337066" "00024045" "10" "1891" "-12" "1891" "-12" "c.1891-12C>A" "r.(=)" "p.(=)" "" "0000337067" "00024045" "10" "-133" "0" "-133" "0" "c.-133C>G" "r.(?)" "p.(=)" "" "0000342364" "00024045" "90" "712" "0" "715" "0" "c.712_715del" "r.(?)" "p.(Arg238GlufsTer59)" "" "0000345836" "00024045" "70" "598" "0" "598" "0" "c.598G>T" "r.(?)" "p.(Gly200Cys)" "" "0000349660" "00024045" "50" "280" "0" "280" "0" "c.280A>T" "r.(?)" "p.(Thr94Ser)" "" "0000356920" "00024045" "70" "2023" "0" "2029" "0" "c.2023_2029del" "r.(?)" "p.(Thr675Phefs*3)" "" "0000484270" "00024045" "70" "1677" "-1" "1677" "-1" "c.1677-1G>A" "r.spl" "p.?" "" "0000521429" "00024045" "30" "1890" "9" "1890" "10" "c.1890+9_1890+10del" "r.(=)" "p.(=)" "" "0000521430" "00024045" "10" "1677" "-258" "1677" "-258" "c.1677-258dup" "r.(=)" "p.(=)" "" "0000521431" "00024045" "50" "1535" "0" "1535" "0" "c.1535C>T" "r.(?)" "p.(Thr512Ile)" "" "0000521432" "00024045" "30" "1450" "0" "1450" "0" "c.1450C>T" "r.(?)" "p.(Arg484Cys)" "" "0000521435" "00024045" "10" "1305" "12" "1305" "12" "c.1305+12T>C" "r.(=)" "p.(=)" "" "0000521436" "00024045" "30" "1235" "0" "1235" "0" "c.1235A>G" "r.(?)" "p.(Asp412Gly)" "" "0000521437" "00024045" "50" "1235" "0" "1235" "0" "c.1235A>G" "r.(?)" "p.(Asp412Gly)" "" "0000521438" "00024045" "30" "1235" "0" "1235" "0" "c.1235A>G" "r.(?)" "p.(Asp412Gly)" "" "0000521440" "00024045" "30" "1097" "0" "1097" "0" "c.1097C>A" "r.(?)" "p.(Ser366Tyr)" "" "0000521442" "00024045" "50" "1043" "0" "1043" "0" "c.1043A>G" "r.(?)" "p.(Glu348Gly)" "" "0000521443" "00024045" "50" "934" "0" "934" "0" "c.934G>A" "r.(?)" "p.(Gly312Ser)" "" "0000521444" "00024045" "50" "300" "0" "300" "0" "c.300C>G" "r.(?)" "p.(Phe100Leu)" "" "0000597892" "00024045" "70" "1677" "-1" "1677" "-1" "c.1677-1G>A" "r.spl" "p.?" "" "0000597893" "00024045" "70" "1677" "-1" "1677" "-1" "c.1677-1G>A" "r.spl" "p.?" "" "0000597897" "00024045" "70" "1677" "-1" "1677" "-1" "c.1677-1G>A" "r.spl?" "p.?" "" "0000597898" "00024045" "70" "1677" "-1" "1677" "-1" "c.1677-1G>A" "r.spl" "p.?" "" "0000609052" "00024045" "50" "1787" "-10" "1787" "-10" "c.1787-10C>G" "r.(=)" "p.(=)" "" "0000609053" "00024045" "90" "1592" "0" "1597" "0" "c.1592_1597del" "r.(?)" "p.(Val531_Pro532del)" "" "0000638713" "00024045" "90" "849" "1" "849" "1" "c.849+1G>T" "r.spl" "p.?" "" "0000651387" "00024045" "30" "3350" "0" "3350" "0" "c.*1202G>A" "r.(=)" "p.(=)" "" "0000651388" "00024045" "50" "1235" "0" "1235" "0" "c.1235A>G" "r.(?)" "p.(Asp412Gly)" "" "0000651389" "00024045" "90" "389" "0" "390" "0" "c.389_390del" "r.(?)" "p.(Asn130Thrfs*4)" "" "0000655079" "00024045" "30" "639" "0" "639" "0" "c.639C>T" "r.(?)" "p.(Asp213=)" "" "0000669795" "00024045" "30" "3350" "0" "3350" "0" "c.*1202G>A" "r.(=)" "p.(=)" "" "0000677177" "00024045" "50" "1094" "0" "1094" "0" "c.1094A>T" "r.(?)" "p.(Gln365Leu)" "" "0000677178" "00024045" "90" "1062" "0" "1063" "0" "c.1062_1063del" "r.(?)" "p.(Tyr354Ter)" "" "0000685025" "00024045" "70" "1786" "0" "1786" "0" "c.1786G>A" "r.(?)" "p.(Glu596Lys)" "" "0000685026" "00024045" "90" "87" "0" "88" "0" "c.87_88del" "r.(?)" "p.(His29Glnfs*12)" "" "0000689220" "00024045" "50" "2012" "0" "2012" "0" "c.2012A>G" "r.(?)" "p.(Tyr671Cys)" "" "0000689221" "00024045" "50" "1586" "0" "1586" "0" "c.1586C>G" "r.(?)" "p.(Pro529Arg)" "" "0000714076" "00024045" "70" "500" "0" "501" "0" "c.500_501insTATGAG" "r.(?)" "p.(Cys167_Gln168insMetSer)" "" "0000719724" "00024045" "50" "1375" "0" "1375" "0" "c.1375C>T" "r.(?)" "p.(Arg459Cys)" "" "0000719725" "00024045" "90" "1089" "0" "1089" "0" "c.1089T>A" "r.(?)" "p.(Tyr363Ter)" "" "0000759694" "00024045" "90" "1677" "-490" "1802" "0" "c.1677-490_1802delinsTGTTTAA" "r.?" "p.?" "" "0000759697" "00024045" "90" "87" "0" "88" "0" "c.87_88del" "r.(?)" "p.(His29GlnfsTer12)" "" "0000759710" "00024045" "50" "442" "0" "442" "0" "c.442A>C" "r.(?)" "p.(Asn148His)" "" "0000759718" "00024045" "90" "878" "0" "878" "0" "c.878A>C" "r.(?)" "p.(Gln293Pro)" "" "0000760015" "00024045" "50" "36" "20" "36" "20" "c.36+20C>T" "r.spl" "p.?" "" "0000760153" "00024045" "50" "1712" "0" "1713" "0" "c.1712_1713delinsAGA" "r.(?)" "p.(Ser571*)" "" "0000765536" "00024045" "90" "712" "0" "715" "0" "c.712_715del" "r.(?)" "p.(Arg238GlufsTer59)" "" "0000765538" "00024045" "90" "949" "0" "949" "0" "c.949C>G" "r.(?)" "p.(Leu317Val)" "" "0000765760" "00024045" "70" "602" "-2" "602" "-2" "c.602-2A>T" "r.spl" "p.?" "" "0000765769" "00024045" "70" "602" "-2" "602" "-2" "c.602-2A>T" "r.spl" "p.?" "" "0000786408" "00024045" "90" "1787" "-1" "1787" "-1" "c.1787-1G>C" "r.spl" "p.?" "" "0000786475" "00024045" "90" "198" "0" "198" "0" "c.198T>G" "r.(?)" "p.(Ile66Met)" "" "0000793703" "00024045" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "4" "0000793704" "00024045" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "4" "0000793705" "00024045" "90" "688" "0" "688" "0" "c.688T>C" "r.(?)" "p.(Trp230Arg)" "7" "0000793706" "00024045" "90" "712" "0" "715" "0" "c.712_715del" "r.(?)" "p.(Arg238Glufs*59)" "7" "0000793707" "00024045" "90" "1786" "0" "1786" "0" "c.1786G>A" "r.(?)" "p.(Glu596Lys)" "16" "0000793708" "00024045" "90" "1786" "0" "1786" "0" "c.1786G>A" "r.(?)" "p.(Glu596Lys)" "16" "0000794285" "00024045" "90" "1002" "0" "1002" "0" "c.1002del" "r.(?)" "p.(Asn335Ilefs*47)" "10" "0000794286" "00024045" "90" "288" "0" "289" "0" "c.288_289del" "r.(?)" "p.(Gly97Lysfs*7)" "4" "0000795029" "00024045" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "1" "0000795038" "00024045" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "19" "0000795947" "00024045" "90" "1002" "0" "1002" "0" "c.1002del" "r.(?)" "p.(Asn335Ilefs*47)" "10" "0000796279" "00024045" "90" "728" "0" "728" "0" "c.728G>A" "r.(?)" "p.(Cys243Tyr)" "8" "0000797945" "00024045" "70" "1375" "0" "1375" "0" "c.1375C>T" "r.(?)" "p.(Arg459Cys)" "" "0000801484" "00024045" "90" "1062" "0" "1063" "0" "c.1062_1063del" "r.(?)" "p.(Tyr354Ter)" "" "0000810958" "00024045" "90" "196" "0" "196" "0" "c.196A>T" "r.(?)" "p.(Ile66Phe)" "4" "0000811052" "00024045" "70" "187" "0" "187" "0" "c.187G>A" "r.(?)" "p.(Gly63Arg)" "4" "0000811053" "00024045" "70" "601" "2" "601" "2" "c.601+2 T>C" "r.spl?" "p.?" "6i" "0000811054" "00024045" "70" "187" "0" "187" "0" "c.187G>A" "r.(?)" "p.(Gly63Arg)" "4" "0000811055" "00024045" "70" "601" "2" "601" "2" "c.601+2 T>C" "r.spl?" "p.?" "6i" "0000811056" "00024045" "70" "712" "0" "715" "0" "c.712_715del" "r.(?)" "p.(Arg238Glufs*59)" "7" "0000811057" "00024045" "70" "1121" "0" "1121" "0" "c.1121C>G" "r.(?)" "p.(Ser374*)" "11" "0000811060" "00024045" "50" "171" "0" "171" "0" "c.171G>A" "r.(=)" "p.(=)" "4" "0000811107" "00024045" "30" "1721" "0" "1721" "0" "c.1721C>G" "r.(?)" "p.(Ser574Cys)" "16" "0000811126" "00024045" "90" "1967" "0" "1968" "0" "c.1967_1968delinsC" "r.(?)" "p.(Leu656Profs*18)" "18" "0000811127" "00024045" "90" "528" "1" "528" "1" "c.528+1G>A" "r.spl?" "p.?" "5i" "0000811131" "00024045" "70" "340" "0" "340" "0" "c.340A>G" "r.(?)" "p.(Met114Val)" "4" "0000811341" "00024045" "70" "632" "0" "632" "0" "c.632C>T" "r.(?)" "p.(Thr211Ile)" "7" "0000811698" "00024045" "90" "763" "0" "763" "0" "c.763A>T" "c.763A>T" "p.(Lys255*)" "8" "0000813076" "00024045" "70" "838" "0" "838" "0" "c.838C>T" "r.(?)" "p.(Arg280*)" "8" "0000813077" "00024045" "70" "1462" "0" "1463" "0" "c.1462_1463del" "r.(?)" "p.(Ile488Glnfs*13)" "14" "0000813078" "00024045" "70" "198" "0" "198" "0" "c.198T>G" "r.(?)" "p.(Ile66Met)" "4" "0000813079" "00024045" "70" "640" "0" "640" "0" "c.640G>A" "r.(?)" "p.(Gly214Arg)" "7" "0000813080" "00024045" "70" "1580" "0" "1580" "0" "c.1580dupT" "r.(?)" "p.Cys527TrpfsX4" "15" "0000813265" "00024045" "50" "934" "32" "934" "32" "c.934+32A>G" "r.(=)" "p.(=)" "9i" "0000813266" "00024045" "70" "602" "-2" "602" "-2" "c.602-2A>T" "r.spl?" "p.?" "6i" "0000813267" "00024045" "70" "602" "-2" "602" "-2" "c.602-2A>T" "r.spl?" "p.?" "6i" "0000813268" "00024045" "70" "602" "-2" "602" "-2" "c.602-2A>T" "r.spl?" "p.?" "6i" "0000813291" "00024045" "50" "934" "32" "934" "32" "c.934+32A>G" "r.(=)" "p.(=)" "9i" "0000813297" "00024045" "50" "934" "32" "934" "32" "c.934+32A>G" "r.(=)" "p.(=)" "9i" "0000813310" "00024045" "50" "529" "-99" "529" "-99" "c.529-99T>A" "r.(=)" "p.(=)" "5i" "0000813316" "00024045" "50" "529" "-99" "529" "-99" "c.529-99T>A" "r.(=)" "p.(=)" "5i" "0000813332" "00024045" "50" "529" "-99" "529" "-99" "c.529-99T>A" "r.(=)" "p.(=)" "5i" "0000813922" "00024045" "70" "632" "0" "632" "0" "c.632C>T" "r.(?)" "p.(Thr211Ile)" "7" "0000813968" "00024045" "70" "710" "0" "713" "0" "c.710_713delAGAG" "r.(?)" "p.(Arg238Glufs*59)" "7" "0000813969" "00024045" "70" "632" "0" "632" "0" "c.632C>T" "r.(?)" "p.(Thr211Ile)" "7" "0000813970" "00024045" "70" "632" "0" "632" "0" "c.632C>T" "r.(?)" "p.(Thr211Ile)" "7" "0000814018" "00024045" "50" "1235" "0" "1235" "0" "c.1235A>G" "r.(?)" "p.(Asp412Gly)" "12" "0000814068" "00024045" "50" "-1503" "0" "-1503" "0" "c.-1503delC" "r.(?)" "p.?" "1" "0000814078" "00024045" "50" "2877" "0" "2877" "0" "c.*729delC" "r.(?)" "p.?" "19" "0000814145" "00024045" "70" "171" "0" "171" "0" "c.171G>A" "r.(=)" "p.(=)" "4" "0000814174" "00024045" "70" "601" "2" "601" "2" "c.IVS6+2T>C" "r.spl?" "p.?" "6i" "0000814176" "00024045" "70" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "" "0000814177" "00024045" "70" "601" "2" "601" "2" "c.IVS6+2T>C" "r.spl?" "p.?" "6i" "0000814178" "00024045" "70" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "" "0000814179" "00024045" "70" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "" "0000814180" "00024045" "70" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "" "0000814526" "00024045" "90" "878" "0" "878" "0" "c.878A>C" "r.(?)" "p.(Gln293Pro)" "9" "0000814585" "00024045" "70" "878" "0" "878" "0" "c.878A>C" "r.(?)" "p.(Gln293Pro)" "9" "0000814660" "00024045" "90" "87" "0" "88" "0" "c.87_88del" "r.(?)" "p.(His29Glnfs*12)" "2" "0000814662" "00024045" "90" "87" "0" "88" "0" "c.87_88del" "r.(?)" "p.(His29Glnfs*12)" "2" "0000815047" "00024045" "90" "1342" "0" "1346" "0" "c.1342_1346del" "r.(?)" "p.(Gln448Argfs*13)" "13" "0000815048" "00024045" "90" "1443" "0" "1443" "0" "c.1443T>A" "r.(?)" "p.(Cys481*)" "14" "0000817534" "00024045" "70" "728" "0" "728" "0" "c.728G>A" "r.(?)" "p.(Cys243Tyr)" "8" "0000817535" "00024045" "70" "728" "0" "728" "0" "c.728G>A" "r.(?)" "p.(Cys243Tyr)" "8" "0000817536" "00024045" "70" "728" "0" "728" "0" "c.728G>A" "r.(?)" "p.(Cys243Tyr)" "8" "0000817537" "00024045" "70" "728" "0" "728" "0" "c.728G>A" "r.(?)" "p.(Cys243Tyr)" "8" "0000817584" "00024045" "90" "728" "0" "728" "0" "c.728G>A" "r.(?)" "p.Cys243Tyr" "8" "0000818631" "00024045" "90" "1002" "0" "1002" "0" "c.1002delT" "r.(?)" "p.(Asn335Ilefs*47)" "" "0000818632" "00024045" "90" "1002" "0" "1002" "0" "c.1002delT" "r.(?)" "p.(Asn335Ilefs*47)" "" "0000818637" "00024045" "90" "288" "0" "289" "0" "c.288_289delAG" "r.(?)" "p.(Gly97Lysfs*7)" "" "0000818640" "00024045" "90" "580" "0" "582" "0" "c.580_582del" "r.(?)" "p.(Ala194del)" "6" "0000818641" "00024045" "90" "580" "0" "582" "0" "c.580_582del" "r.(?)" "p.(Ala194del)" "6" "0000818642" "00024045" "90" "580" "0" "582" "0" "c.580_582del" "r.(?)" "p.(Ala194del)" "6" "0000818643" "00024045" "90" "1592" "0" "1597" "0" "c.1592_1597del" "r.(?)" "p.(Val531_Pro532del)" "15" "0000818644" "00024045" "90" "1592" "0" "1597" "0" "c.1592_1597del" "r.(?)" "p.(Val531_Pro532del)" "15" "0000818645" "00024045" "90" "1592" "0" "1597" "0" "c.1592_1597del" "r.(?)" "p.(Val531_Pro532del)" "15" "0000818646" "00024045" "90" "1592" "0" "1597" "0" "c.1592_1597del" "r.(?)" "p.(Val531_Pro532del)" "15" "0000819016" "00024045" "70" "728" "0" "728" "0" "c.728G>A" "r.(?)" "p.(Cys243Tyr)" "" "0000819404" "00024045" "70" "712" "0" "715" "0" "c.712_715del" "r.(?)" "p.(Arg238Glufs*59)" "" "0000819450" "00024045" "70" "968" "0" "968" "0" "c.968A>G" "r.(?)" "p.(His323Arg)" "" "0000820635" "00024045" "70" "790" "0" "790" "0" "c.790G>A" "r.(?)" "p.(Gly264Arg)" "" "0000822757" "00024045" "70" "849" "1" "849" "1" "c.849+1G>T" "r.spl" "p.(?)" "" "0000822962" "00024045" "70" "968" "0" "968" "0" "c.968A>G" "r.(?)" "p.(His323Arg)" "" "0000824915" "00024045" "90" "1002" "0" "1002" "0" "c.1002del" "r.(?)" "p.(Asn335Ilefs*47)" "10" "0000824916" "00024045" "90" "728" "0" "728" "0" "c.728G>A" "r.(?)" "p.(Cys243Tyr)" "8" "0000824925" "00024045" "90" "1395" "0" "1395" "0" "c.1395T>A" "r.(?)" "p.(Tyr465*)" "14" "0000827120" "00024045" "90" "1968" "0" "1968" "0" "c.1968del" "r.(?)" "p.(Gln657Argfs*17)" "18" "0000828492" "00024045" "70" "1372" "-1" "1372" "-1" "c.1372-1G>C" "r.spl" "p.(?)" "" "0000828493" "00024045" "70" "896" "0" "897" "0" "c.896_897del" "r.(?)" "p.(Lys299Argfs*4)" "" "0000830042" "00024045" "90" "389" "0" "390" "0" "c.389_390del" "r.(?)" "p.(Asn130Thrfs*4)" "5" "0000830043" "00024045" "90" "389" "0" "390" "0" "c.389_390del" "r.(?)" "p.(Asn130Thrfs*4)" "5" "0000850516" "00024045" "50" "1939" "0" "1939" "0" "c.1939C>A" "r.(?)" "p.(His647Asn)" "" "0000859219" "00024045" "70" "968" "0" "968" "0" "c.968A>G" "r.(?)" "p.(His323Arg)" "" "0000859220" "00024045" "30" "280" "0" "280" "0" "c.280A>T" "r.(?)" "p.(Thr94Ser)" "" "0000878686" "00024045" "70" "602" "-2" "602" "-2" "c.602-2A>T" "r.spl" "p.?" "" "0000878687" "00024045" "70" "602" "-2" "602" "-2" "c.602-2A>T" "r.spl" "p.?" "" "0000879141" "00024045" "70" "389" "0" "390" "0" "c.389_390delAC" "r.(?)" "p.(Asn130Thrfs*4)" "" "0000879142" "00024045" "70" "389" "0" "390" "0" "c.389_390delAC" "r.(?)" "p.(Asn130Thrfs*4)" "" "0000879143" "00024045" "70" "389" "0" "390" "0" "c.389_390delAC" "r.(?)" "p.(Asn130Thrfs*4)" "" "0000880165" "00024045" "90" "850" "-1" "1676" "1" "c.(849+1_850-1)_(1676+1_1677-1)del" "r.?" "p.(Met284Lysfs*7)" "5i_15i" "0000880192" "00024045" "10" "166" "-45" "166" "-45" "c.166-45C>T" "r.(?)" "p.(=)" "" "0000880193" "00024045" "10" "528" "173" "528" "173" "c.528+173C>G" "r.(?)" "p.(=)" "" "0000880194" "00024045" "10" "934" "31" "934" "34" "c.934+31_934+34del" "r.(?)" "p.(=)" "" "0000880195" "00024045" "10" "934" "32" "934" "32" "c.934+32A>G" "r.(?)" "p.(=)" "" "0000880196" "00024045" "10" "1041" "0" "1041" "0" "c.1041T>C" "r.(?)" "p.(=)" "" "0000880197" "00024045" "10" "1511" "25" "1511" "25" "c.1511+25C>A" "r.(?)" "p.(=)" "" "0000886111" "00024045" "30" "191" "0" "191" "0" "c.191C>T" "r.(?)" "p.(Pro64Leu)" "" "0000886112" "00024045" "10" "171" "0" "171" "0" "c.171G>A" "r.(?)" "p.(Val57=)" "" "0000912046" "00024045" "30" "192" "0" "192" "0" "c.192G>A" "r.(?)" "p.(Pro64=)" "" "0000912047" "00024045" "10" "186" "0" "186" "0" "c.186C>T" "r.(?)" "p.(Pro62=)" "" "0000924053" "00024045" "30" "1263" "0" "1263" "0" "c.1263T>C" "r.(?)" "p.(Asp421=)" "" "0000958087" "00024045" "90" "712" "0" "715" "0" "c.712_715del" "r.(?)" "p.(Arg238GlufsTer59)" "" "0000958471" "00024045" "70" "968" "0" "968" "0" "c.968A>G" "r.(?)" "p.(His323Arg)" "" "0000962994" "00024045" "10" "192" "0" "192" "0" "c.192G>A" "r.(?)" "p.(Pro64=)" "" "0000962995" "00024045" "30" "103" "-11" "103" "-11" "c.103-11A>G" "r.(=)" "p.(=)" "" "0000962996" "00024045" "30" "11" "0" "11" "0" "c.11T>C" "r.(?)" "p.(Ile4Thr)" "" "0000976096" "00024045" "50" "46" "0" "46" "0" "c.46A>G" "r.(?)" "p.(Thr16Ala)" "" "0001030312" "00024045" "70" "373" "0" "373" "0" "c.373G>A" "r.(373G>A)" "p.(Ala125Thr)" "" "0001034302" "00024045" "30" "1787" "-8" "1787" "-8" "c.1787-8C>T" "r.(=)" "p.(=)" "" "0001034303" "00024045" "50" "1624" "0" "1624" "0" "c.1624A>G" "r.(?)" "p.(Thr542Ala)" "" "0001034304" "00024045" "50" "1381" "0" "1381" "0" "c.1381A>G" "r.(?)" "p.(Ile461Val)" "" "0001034305" "00024045" "50" "1306" "-82" "1306" "-82" "c.1306-82dup" "r.(=)" "p.(=)" "" "0001034306" "00024045" "70" "849" "1" "849" "1" "c.849+1G>A" "r.spl?" "p.?" "" "0001034307" "00024045" "50" "619" "0" "619" "0" "c.619C>T" "r.(?)" "p.(Leu207Phe)" "" "0001034308" "00024045" "50" "262" "0" "262" "0" "c.262T>G" "r.(?)" "p.(Ser88Ala)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 134 "{{screeningid}}" "{{variantid}}" "0000046564" "0000074351" "0000050528" "0000079508" "0000050528" "0000079682" "0000155835" "0000356920" "0000240245" "0000484270" "0000267032" "0000597892" "0000267033" "0000597893" "0000267034" "0000597897" "0000267035" "0000597898" "0000277473" "0000638713" "0000294698" "0000651387" "0000294699" "0000651388" "0000294700" "0000651389" "0000306107" "0000669795" "0000310114" "0000685025" "0000310115" "0000685026" "0000329719" "0000714076" "0000360041" "0000759710" "0000360044" "0000759694" "0000360044" "0000759718" "0000360047" "0000759697" "0000360198" "0000760015" "0000360261" "0000760153" "0000364661" "0000765536" "0000364663" "0000765538" "0000364818" "0000765760" "0000364827" "0000765769" "0000375113" "0000786408" "0000375113" "0000786475" "0000380560" "0000793703" "0000380561" "0000793704" "0000380562" "0000793705" "0000380563" "0000793706" "0000380564" "0000793707" "0000380565" "0000793708" "0000381014" "0000794285" "0000381014" "0000794286" "0000381566" "0000795029" "0000381569" "0000795038" "0000382231" "0000795947" "0000382454" "0000796279" "0000383708" "0000797945" "0000384341" "0000810958" "0000384418" "0000811052" "0000384418" "0000811053" "0000384419" "0000811054" "0000384419" "0000811055" "0000384420" "0000811056" "0000384420" "0000811057" "0000384421" "0000811060" "0000384449" "0000811107" "0000384465" "0000811126" "0000384465" "0000811127" "0000384467" "0000811131" "0000384599" "0000811341" "0000384879" "0000811698" "0000385907" "0000813076" "0000385907" "0000813077" "0000385908" "0000813078" "0000385909" "0000813079" "0000385909" "0000813080" "0000386034" "0000813265" "0000386035" "0000813266" "0000386036" "0000813267" "0000386037" "0000813268" "0000386049" "0000813291" "0000386052" "0000813297" "0000386058" "0000813310" "0000386059" "0000813316" "0000386065" "0000813332" "0000386414" "0000813922" "0000386448" "0000813968" "0000386449" "0000813969" "0000386450" "0000813970" "0000386478" "0000814018" "0000386511" "0000814068" "0000386516" "0000814078" "0000386560" "0000814145" "0000386579" "0000814174" "0000386579" "0000814176" "0000386580" "0000814177" "0000386580" "0000814178" "0000386581" "0000814179" "0000386581" "0000814180" "0000386794" "0000814526" "0000386830" "0000814585" "0000386867" "0000814660" "0000386868" "0000814662" "0000387173" "0000815047" "0000387173" "0000815048" "0000388776" "0000817534" "0000388777" "0000817535" "0000388778" "0000817536" "0000388779" "0000817537" "0000388823" "0000817584" "0000389539" "0000818631" "0000389539" "0000818637" "0000389540" "0000818632" "0000389545" "0000818640" "0000389546" "0000818641" "0000389547" "0000818642" "0000389548" "0000818643" "0000389549" "0000818644" "0000389550" "0000818645" "0000389551" "0000818646" "0000389772" "0000819016" "0000390059" "0000819404" "0000390059" "0000820635" "0000390105" "0000819450" "0000392457" "0000822757" "0000392619" "0000822962" "0000394021" "0000824915" "0000394022" "0000824916" "0000394022" "0000824925" "0000395722" "0000827120" "0000396811" "0000828492" "0000396811" "0000828493" "0000397832" "0000830042" "0000397832" "0000830043" "0000418819" "0000878686" "0000418820" "0000878687" "0000419168" "0000879141" "0000419169" "0000879142" "0000419170" "0000879143" "0000419942" "0000880165" "0000419968" "0000880192" "0000419969" "0000880193" "0000419970" "0000880194" "0000419971" "0000880195" "0000419972" "0000880196" "0000419973" "0000880197" "0000448601" "0000958087" "0000448601" "0000958471" "0000466350" "0001030312"