### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MKKS) # 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}}" "MKKS" "McKusick-Kaufman syndrome" "20" "p12" "unknown" "NG_009109.1" "UD_134408331156" "" "https://www.LOVD.nl/MKKS" "" "1" "7108" "8195" "604896" "1" "1" "1" "1" "This database is one of the \"Eye disease\" gene variant databases.\r\nEstablishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/MKKS_codingDNA.html" "1" "" "This database is one of the \"Eye disease\" gene variant databases." "-1" "" "-1" "00001" "2012-03-28 00:00:00" "00006" "2018-07-03 15:35:54" "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}}" "00024048" "MKKS" "transcript variant 2" "002" "NM_170784.2" "" "NP_740754.1" "" "" "" "-780" "2180" "1713" "10414887" "10385428" "00008" "2015-08-17 15:04:20" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 7 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00259" "obesity" "obesity, susceptibility to (incl. leanness)" "AD;AR;Mu" "601665" "" "" "" "00006" "2013-10-28 15:05:17" "00006" "2022-01-13 16:46:00" "01028" "MKKS" "McKusick-Kaufman syndrome (MKKS)" "AR" "236700" "" "" "" "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" "04578" "BBS6" "Bardet-Biedl syndrome, type 6 (BBS-6)" "AR" "605231" "" "" "" "00000" "2015-09-23 10:25:23" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "MKKS" "00139" "MKKS" "01028" "MKKS" "04578" ## Individuals ## Do not remove or alter this header ## ## Count = 191 "{{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}}" "00060204" "" "" "" "1" "" "00244" "" "1 familie, 3 patients" "M" "yes" "Spain" "" "0" "" "" "Hispanic" "" "00165229" "" "" "" "1" "" "02526" "" "" "F" "yes" "Spain" "" "0" "" "" "" "" "00276325" "" "" "" "1" "" "03470" "" "" "F" "yes" "Turkey" "00y17m" "0" "" "" "" "" "00292863" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292864" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292865" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00309639" "" "" "" "8" "" "00006" "{PMID:Khan 2016:26854863}" "5-generation family, 8 affected (5F, 3M), unaffected heterozygous carrier parents/relatives" "F" "yes" "Pakistan" "" "0" "" "" "" "FamilyPat501" "00309641" "" "" "00309639" "1" "" "00006" "{PMID:Khan 2016:26854863}" "" "M" "yes" "Pakistan" "" "0" "" "" "" "FamilyPat503" "00309642" "" "" "00309639" "1" "" "00006" "{PMID:Khan 2016:26854863}" "" "F" "yes" "Pakistan" "" "0" "" "" "" "FamilyPat505" "00309643" "" "" "00309639" "1" "" "00006" "{PMID:Khan 2016:26854863}" "" "F" "yes" "Pakistan" "" "0" "" "" "" "FamilyPat507" "00309645" "" "" "00309639" "1" "" "00006" "{PMID:Khan 2016:26854863}" "" "M" "yes" "Pakistan" "" "0" "" "" "" "FamilyPat509" "00318008" "" "" "" "1" "" "00006" "{PMID:Riazuddin 2017:27457812}" "" "" "yes" "Pakistan" "" "0" "" "" "" "PKMR224" "00332190" "" "" "" "1" "" "00000" "{PMID:Bryant 2018:29343940}" "" "" "" "United States" "" "0" "" "" "" "JB9" "00333365" "" "" "" "1" "" "00000" "{PMID:Costa 2017:28912962}" "" "F" "" "Brazil" "" "0" "" "" "" "Pat7" "00334089" "" "" "" "2" "" "00000" "{PMID:Stone 2017:28559085}" "family, 2 affected" "M" "" "(United States)" "" "0" "" "" "" "618" "00334090" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "M" "" "(United States)" "" "0" "" "" "" "619" "00358807" "" "" "" "1" "" "00000" "{PMID:Lindstrand 2016:27486776}" "" "M" "no" "United States" "" "0" "" "" "" "AR800-03" "00358964" "" "" "" "1" "" "00000" "{PMID:Tiwari 2016:27353947}" "see paper" "M" "" "Switzerland" "" "0" "" "" "" "Case72007" "00358972" "" "" "" "1" "" "00000" "{PMID:Tiwari 2016:27353947}" "see paper" "M" "" "Switzerland" "" "0" "" "" "" "Case70559" "00358977" "" "" "" "1" "" "00000" "{PMID:Tiwari 2016:27353947}" "see paper" "M" "" "Switzerland" "" "0" "" "" "" "Case25939" "00358980" "" "" "" "1" "" "00000" "{PMID:Tiwari 2016:27353947}" "see paper" "M" "" "Switzerland" "" "0" "" "" "" "Case71094" "00363647" "" "" "" "1" "" "00000" "{PMID:Patel 2016:26355662}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "11DG1165" "00375422" "" "" "" "1" "" "00000" "{PMID:Katagiri 2014:25268133}" "family" "" "" "Japan" "" "0" "" "" "" "RP#015" "00380358" "" "" "" "1" "" "00000" "{PMID:M\'hamdi_2014:23432027}" "" "F" "yes" "Tunisia" "" "0" "" "" "Tunisian" "" "00380364" "" "" "" "1" "" "00000" "{PMID:M\'hamdi_2014:23432027}" "" "F" "yes" "Tunisia" "" "0" "" "" "Tunisian" "" "00382325" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "154" "00382563" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "425" "00382894" "" "" "" "1" "" "00000" "{PMID:Katsanis-2001:11567139}" "" "" "" "" "" "0" "" "" "" "" "00382895" "" "" "" "1" "" "00000" "{PMID:Katsanis-2001:11567139}" "" "" "" "" "" "0" "" "" "" "" "00382896" "" "" "" "1" "" "00000" "{PMID:Katsanis-2001:11567139}" "" "" "" "" "" "0" "" "" "" "" "00382898" "" "" "" "1" "" "00000" "{PMID:Katsanis-2001:11567139}" "two BBS2 mutations found in unaffected individuals" "" "" "" "" "0" "" "" "" "" "00383058" "" "" "" "1" "" "00000" "{PMID:Anasagasti-2013:24416769}" "" "" "" "Spain" "" "0" "" "" "" "" "00383081" "" "" "" "1" "" "00000" "{PMID:Anasagasti-2013:24416769}" "" "" "" "Spain" "" "0" "" "" "" "" "00383113" "" "" "" "1" "" "00000" "{PMID:Hichri-2005:15770229}" "" "" "" "France" "" "0" "" "" "white" "" "00383114" "" "" "" "1" "" "00000" "{PMID:Hichri-2005:15770229}" "" "" "" "France" "" "0" "" "" "white" "" "00383115" "" "" "" "1" "" "00000" "{PMID:Hichri-2005:15770229}" "" "" "" "France" "" "0" "" "" "white" "" "00383116" "" "" "" "1" "" "00000" "{PMID:Hichri-2005:15770229}" "" "" "" "France" "" "0" "" "" "white" "" "00383133" "" "" "" "1" "" "00000" "{PMID:Sathya Priya-2015:24400638}" "" "" "" "" "" "0" "" "" "" "" "00383149" "" "" "" "1" "" "00000" "{PMID:Sathya Priya-2015:24400638}" "" "" "" "" "" "0" "" "" "" "" "00383154" "" "" "" "1" "" "00000" "{PMID:Sathya Priya-2015:24400638}" "" "" "" "" "" "0" "" "" "" "" "00383213" "" "" "" "1" "" "00000" "{PMID:Muller-2010:20177705}, Katsanis 2000" "" "" "" "" "" "0" "" "" "white" "" "00383238" "" "" "" "1" "" "00000" "{PMID:Muller-2010:20177705}, Stone 2000" "" "" "" "" "" "0" "" "" "white" "" "00383239" "" "" "" "1" "" "00000" "{PMID:Muller-2010:20177705}, Stone 2000" "" "" "" "" "" "0" "" "" "white" "" "00383240" "" "" "" "2" "" "00000" "{PMID:Muller-2010:20177705}" "" "" "" "" "" "0" "" "" "white" "" "00383285" "" "" "" "1" "" "00000" "{PMID:Duelund Hjortshoj-2010:20120035}" "" "F" "" "" "" "0" "" "" "" "" "00383286" "" "" "" "1" "" "00000" "{PMID:Duelund Hjortshoj-2010:20120035}" "" "M" "" "" "" "0" "" "" "" "" "00383287" "" "" "" "1" "" "00000" "{PMID:Duelund Hjortshoj-2010:20120035}" "" "" "" "" "" "0" "" "" "" "" "00383295" "" "" "" "1" "" "00000" "{PMID:Duelund Hjortshoj-2010:20120035}" "" "M" "" "" "" "0" "" "" "" "" "00383296" "" "" "" "1" "" "00000" "{PMID:Duelund Hjortshoj-2010:20120035}" "" "M" "" "" "" "0" "" "" "" "" "00383322" "" "" "" "1" "" "00000" "{PMID:Pereiro-2010:20142850}" "" "F" "" "Spain" "" "0" "" "" "white" "" "00383323" "" "" "" "1" "" "00000" "{PMID:Pereiro-2010:20142850}" "" "F" "" "Spain" "" "0" "" "" "white" "" "00383330" "" "" "" "1" "" "00000" "{PMID:Badano-2003:12837689}" "" "F" "no" "" "" "0" "" "" "white / northern European" "" "00383345" "" "" "" "1" "" "00000" "{PMID:Hoskins-2003:12872256}" "" "" "" "" "" "0" "" "" "" "" "00383346" "" "" "" "1" "" "00000" "{PMID:Hoskins-2003:12872256}" "" "" "" "" "" "0" "" "" "" "" "00383360" "" "" "" "1" "" "00000" "{PMID:Fauser-2003:12920096}" "" "" "no" "" "" "0" "" "" "European" "" "00383361" "" "" "" "1" "" "00000" "{PMID:Fauser-2003:12920096}" "" "" "no" "" "" "0" "" "" "European" "" "00383362" "" "" "" "1" "" "00000" "{PMID:Eichers-2009:15224652}, Beales 2003" "" "" "" "" "" "0" "" "" "" "" "00383363" "" "" "" "1" "" "00000" "{PMID:Eichers-2009:15224652}, Beales 2003" "both affected individuals have inherited two BBS1 mutant alleles (one missesnse and one frameshift) but only one of the two carries a third mutant allele of BBS6 (missense)." "" "" "" "" "0" "" "" "" "" "00383367" "" "" "" "1" "" "00000" "{PMID:Eichers-2009:15224652}, Beales 2003" "" "" "" "" "" "0" "" "" "" "" "00383369" "" "" "" "1" "" "00000" "{PMID:Eichers-2009:15224652}, Beales 2003" "" "" "" "" "" "0" "" "" "" "" "00383370" "" "" "" "1" "" "00000" "{PMID:Eichers-2009:15224652}, Katsanis 2001" "" "" "" "" "" "0" "" "" "" "" "00383371" "" "" "" "1" "" "00000" "{PMID:Eichers-2009:15224652}, Katsanis 2001" "" "" "" "" "" "0" "" "" "" "" "00383374" "" "" "" "1" "" "00000" "{PMID:Eichers-2009:15224652}, Katsanis 2002" "" "" "" "" "" "0" "" "" "" "" "00383466" "" "" "" "1" "" "00000" "{PMID:Castro-Sanchez 2019:31506453}" "" "F" "" "Spain" "" "0" "" "" "white" "RP1573" "00383663" "" "" "" "1" "" "00000" "{PMID:Manara 2019:31196119}" "" "F" "" "" "" "0" "" "" "" "12" "00384678" "" "" "" "1" "" "00000" "{PMID:Feuillan-2011:21209035}" "" "" "" "" "" "0" "" "" "" "" "00384679" "" "" "" "1" "" "00000" "{PMID:Feuillan-2011:21209035}" "" "" "" "" "" "0" "" "" "" "" "00384680" "" "" "" "1" "" "00000" "{PMID:Feuillan-2011:21209035}" "" "" "" "" "" "0" "" "" "" "" "00384704" "" "" "" "1" "" "00000" "{PMID:Billingsley-2010:20472660}" "" "M" "" "" "" "0" "" "" "Portuguese" "" "00384705" "" "" "" "1" "" "00000" "{PMID:Billingsley-2010:20472660}" "" "M" "" "" "" "0" "" "" "Newfoundland" "" "00384706" "" "" "" "1" "" "00000" "{PMID:Billingsley-2010:20472660}" "" "F" "" "" "" "0" "" "" "French-Canadian" "" "00384707" "" "" "" "1" "" "00000" "{PMID:Billingsley-2010:20472660}" "" "M" "" "" "" "0" "" "" "Arabic" "" "00384713" "" "" "" "1" "" "00000" "{PMID:Billingsley-2010:20472660}" "" "F" "" "" "" "0" "" "" "Irish" "" "00384723" "" "" "" "1" "" "00000" "{PMID:Billingsley-2010:20472660}" "" "F" "" "" "" "0" "" "" "British" "" "00384728" "" "" "" "1" "" "00000" "{PMID:Billingsley-2010:20472660}" "" "F" "" "" "" "0" "" "" "West African" "" "00384823" "" "" "" "1" "" "00000" "{PMID:Abu-Safieh-2012:22353939}" "2 unaffected siblings screened" "" "yes" "Saudi Arabia" "" "0" "" "" "Arab" "" "00384824" "" "" "" "1" "" "00000" "{PMID:Abu-Safieh-2012:22353939}" "2 unaffected siblings screened" "" "yes" "Saudi Arabia" "" "0" "" "" "Arab" "" "00384827" "" "" "" "1" "" "00000" "{PMID:Abu-Safieh-2012:22353939}" "2 unaffected siblings screened" "" "yes" "Saudi Arabia" "" "0" "" "" "Arab" "" "00385182" "" "" "" "1" "" "00000" "{PMID:Chen-2011:21642631}" "" "" "" "" "" "0" "" "" "white" "" "00385240" "" "" "" "1" "" "00000" "{PMID:Redin-2012:22773737}" "" "" "" "France" "" "0" "" "" "" "" "00385247" "" "" "" "1" "" "00000" "{PMID:Redin-2012:22773737}" "" "" "" "Tunisia" "" "0" "" "" "" "" "00385257" "" "" "" "1" "" "00000" "{PMID:Schaefer-2011:21044901}" "" "" "" "France" "" "0" "" "" "french" "" "00385285" "" "" "" "1" "" "00000" "{PMID:M\'hamdi-2014:23432027}" "" "F" "yes" "Tunisia" "" "0" "" "" "Tunisian" "" "00385306" "" "" "" "1" "" "00000" "{PMID:Imhoff-2011:20876674}" "additional mutation" "" "" "" "" "0" "" "" "South African Black/European/Asian" "" "00385346" "" "" "" "1" "" "00000" "{PMID:Deveault-2011:21344540}" "novel" "M" "" "" "" "0" "" "" "Mexican/Norwegian/Danish" "" "00385347" "" "" "" "1" "" "00000" "{PMID:Deveault-2011:21344540}" "" "M" "" "" "" "0" "" "" "Ghanian" "" "00385348" "" "" "" "1" "" "00000" "{PMID:Deveault-2011:21344540}" "" "M" "" "" "" "0" "" "" "Spanish" "" "00385349" "" "" "" "1" "" "00000" "{PMID:Deveault-2011:21344540}" "" "F" "" "" "" "0" "" "" "Spanish" "" "00385361" "" "" "" "1" "" "00000" "{PMID:Deveault-2011:21344540}" "" "F" "yes" "" "" "0" "" "" "Croatian" "" "00385370" "" "" "" "1" "" "00000" "{PMID:Deveault-2011:21344540}" "" "F" "yes" "" "" "0" "" "" "Arabic" "" "00385376" "" "" "" "1" "" "00000" "{PMID:Deveault-2011:21344540}" "" "F" "" "" "" "0" "" "" "South African Black" "" "00385583" "" "" "" "1" "" "00000" "{PMID:Janssen-2011:21052717}" "" "" "" "" "" "0" "" "" "Northern-Europe" "AR850(A2878)-4" "00385599" "" "" "" "1" "" "00000" "{PMID:Janssen-2011:21052717}" "" "" "" "Macedonia" "" "0" "" "" "" "A786-II1" "00385600" "" "" "" "1" "" "00000" "{PMID:Janssen-2011:21052717}" "" "" "" "" "" "0" "" "" "Northern-Europe" "AR800(A2870)-03" "00385619" "" "" "" "3" "" "00000" "{PMID:de Castro-Miró-2014:24516651}" "" "M" "" "" "" "0" "" "" "" "20NCE" "00385948" "" "" "" "1" "" "00000" "{PMID:Gonzalez-del Pozo-2013:24689075}" "" "F" "" "Spain" "" "0" "" "" "spanish" "" "00385949" "" "" "" "1" "" "00000" "{PMID:Gonzalez-del Pozo-2013:24689075}" "" "M" "" "Spain" "" "0" "" "" "spanish" "" "00385950" "" "" "" "1" "" "00000" "{PMID:Gonzalez-del Pozo-2013:24689075}" "" "M" "" "Spain" "" "0" "" "" "spanish" "" "00387444" "" "" "" "1" "" "00000" "{PMID:Castro Sanchez 2015:26082521}" "" "M" "" "Spain" "" "0" "" "" "Spanish" "" "00387475" "" "" "" "1" "" "00000" "{PMID:Castro Sanchez 2015:26082521}" "" "F" "yes" "Spain" "" "0" "" "" "Spanish" "" "00387476" "" "" "" "1" "" "00000" "{PMID:Castro Sanchez 2015:26082521}" "" "F" "yes" "Spain" "" "0" "" "" "Spanish" "" "00387588" "" "" "" "1" "" "00000" "{PMID:Scheidecker 2015:25982971}" "cone-rod distrophy" "M" "" "" "" "0" "" "" "" "" "00387589" "" "" "" "1" "" "00000" "{PMID:Scheidecker 2015:25982971}" "cone-rod distrophy" "M" "" "" "" "0" "" "" "" "" "00387593" "" "" "" "1" "" "00000" "{PMID:Yamamura 2018:26968886}" "She and her deceased elder brother had severe renal insufficiency soon after birth." "F" "no" "Japan" "" "0" "" "" "Japanese" "" "00388141" "" "" "" "1" "" "00000" "{PMID:Qi_2017:28624958}" "" "F" "" "China" "" "0" "" "" "Chinese" "" "00388316" "" "" "" "1" "" "00000" "{PMID:Ullah-2017:28761321}" "" "F" "yes" "Pakistan" "" "0" "" "" "" "E:III-7" "00388317" "" "" "" "1" "" "00000" "{PMID:Ullah-2017:28761321}" "" "M" "yes" "Pakistan" "" "0" "" "" "" "E:IV-3" "00388318" "" "" "" "1" "" "00000" "{PMID:Ullah-2017:28761321}" "" "M" "yes" "Pakistan" "" "0" "" "" "" "E:IV-4" "00388498" "" "" "" "1" "" "00000" "{PMID:Ellingsford 2018:29074561}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "13009597" "00391214" "" "" "" "1" "" "00000" "{PMID:Gumus 2021:32686083}" "" "F" "" "Turkey" "" "0" "" "" "" "3" "00391376" "" "" "" "1" "" "00000" "{PMID:Méjécase 2020:3278337" "" "?" "" "United Arab Emirates" "" "0" "" "" "" "44" "00392308" "" "" "" "1" "" "00000" "{PMID:Huang 2021:33520300}" "Family B, proband" "F" "yes" "China" "" "0" "" "" "" "I:1" "00392749" "" "" "" "1" "" "00000" "{PMID:Beigi 2021:33741323}" "" "M" "yes" "Iran" "" "0" "" "" "" "II:1" "00392750" "" "" "" "1" "" "00000" "{PMID:Beigi 2021:33741323}" "" "M" "yes" "Iran" "" "0" "" "" "" "II:3" "00394356" "" "" "" "1" "" "00000" "{PMID:Thorsteinsson 2021:33851411}" "" "?" "" "Iceland" "" "0" "" "" "" "AgS1" "00394476" "" "" "" "1" "" "00000" "{PMID:Jeziorny-2020:33138063}" "Brother of No. 9" "M" "" "" "" "0" "" "" "" "" "00394477" "" "" "" "1" "" "00000" "{PMID:Jeziorny-2020:33138063}" "Brother of No. 8" "M" "" "" "" "0" "" "" "" "" "00395567" "" "" "" "1" "" "00000" "{PMID:Perea-Romero 2021:34448047}" "" "" "" "Spain" "" "0" "" "" "" "RP-0496" "00395574" "" "" "" "1" "" "00000" "{PMID:Perea-Romero 2021:34448047}" "" "" "" "Spain" "" "0" "" "" "" "RP-1007" "00395583" "" "" "" "1" "" "00000" "{PMID:Perea-Romero 2021:34448047}" "" "" "" "Spain" "" "0" "" "" "" "RP-1372" "00396581" "" "" "" "1" "" "00000" "{PMID:Mary 2019:30614526}" "Fetus: term at 25 gestation weeks" "F" "" "France" "" "0" "" "" "" "" "00396583" "" "" "" "1" "" "00000" "{PMID:Mary 2019:30614526}" "Fetus: term at 24 gestation weeks" "F" "" "France" "" "0" "" "" "" "" "00396585" "" "" "" "1" "" "00000" "{PMID:Mary 2019:30614526}" "Fetus" "M" "" "France" "" "0" "" "" "" "" "00396587" "" "" "" "1" "" "00000" "{PMID:Mary 2019:30614526}" "Fetus: term at 23 gestation weeks" "M" "" "France" "" "0" "" "" "" "" "00407656" "" "" "" "1" "" "00000" "{PMID:Kang 2016:27491411}" "" "?" "" "Korea, South (Republic)" "" "0" "" "" "" "J-59" "00412486" "" "" "" "1" "" "00000" "{PMID:Delvallee 2021:33169370}" "" "" "" "France" "" "0" "" "" "" "H.II.1" "00417530" "" "" "" "1" "" "00000" "{PMID:Aldahmesh 2014:24488770}" "family BBS_DG8, individual a" "F" "yes" "Saudi Arabia" "" "0" "" "" "" "BBS_DG8a" "00417531" "" "" "" "1" "" "00000" "{PMID:Aldahmesh 2014:24488770}" "family BBS_DG8, individual b" "M" "yes" "Saudi Arabia" "" "0" "" "" "" "BBS_DG8b" "00417532" "" "" "" "1" "" "00000" "{PMID:Aldahmesh 2014:24488770}" "family BBS_DG8, individual c" "M" "yes" "Saudi Arabia" "" "0" "" "" "" "BBS_DG8c" "00417533" "" "" "" "1" "" "00000" "{PMID:Aldahmesh 2014:24488770}" "family BBS_DG9, individual a" "M" "yes" "Saudi Arabia" "" "0" "" "" "" "BBS_DG9a" "00417534" "" "" "" "1" "" "00000" "{PMID:Aldahmesh 2014:24488770}" "family BBS_DG9, individual b" "M" "yes" "Saudi Arabia" "" "0" "" "" "" "BBS_DG9b" "00417839" "" "" "" "1" "" "00000" "{PMID:Putoux 2010:20805367}" "" "F" "" "" "" "0" "" "" "" "1" "00418583" "" "" "" "1" "" "00000" "{PMID:Stone 2000:10802661}" "whole family described elsewhere (Stone et al.. 1998)" "" "likely" "United States" "" "0" "" "" "Amish" "?" "00418584" "" "" "" "1" "" "00000" "{PMID:Stone 2000:10802661}" "" "F" "" "United States" "" "0" "" "" "Northern European" "?" "00418585" "" "" "" "1" "" "00000" "{PMID:Slavotinek 2000:10973238}" "Family 1" "F" "" "United States" "" "0" "" "" "Hispanic" "" "00418586" "" "" "" "1" "" "00000" "{PMID:Slavotinek 2000:10973238}" "Family 2, proband" "F" "" "United States" "" "0" "" "" "Newfoundlandese" "" "00418587" "" "" "" "1" "" "00000" "{PMID:Slavotinek 2000:10973238}" "Family 2, proband\'s brother" "M" "" "United States" "" "0" "" "" "Newfoundlandese" "" "00418588" "" "" "" "1" "" "00000" "{PMID:Slavotinek 2000:10973238}" "Family 3" "M" "yes" "United States" "" "0" "" "" "Newfoundlandese" "" "00418589" "" "" "" "1" "" "00000" "{PMID:Slavotinek 2000:10973238}" "Family 4, proband" "F" "likely" "United States" "" "0" "" "" "Newfoundlandese" "" "00418590" "" "" "" "1" "" "00000" "{PMID:Slavotinek 2000:10973238}" "Family 4, proband\'s brother" "M" "likely" "United States" "" "0" "" "" "Newfoundlandese" "" "00418606" "" "" "" "1" "" "00000" "{PMID:Katsanis 2000:10973251}" "family NF-B1" "M" "" "" "" "0" "" "" "" "NF-B1_03" "00418607" "" "" "" "1" "" "00000" "{PMID:Katsanis 2000:10973251}" "family NF-B1" "M" "" "" "" "0" "" "" "" "NF-B1_04" "00418608" "" "" "" "1" "" "00000" "{PMID:Katsanis 2000:10973251}" "family NF-B5" "M" "" "" "" "0" "" "" "" "NF-B5_07" "00418609" "" "" "" "1" "" "00000" "{PMID:Katsanis 2000:10973251}" "family NF-B3 - probably family 3 from Slavotinek et al., 2002" "M" "" "" "" "0" "" "" "" "NF-B3_04" "00418610" "" "" "" "1" "" "00000" "{PMID:Katsanis 2000:10973251}" "family NF-B4 - probably family 4 from Slavotinek et al., 2002" "F" "" "" "" "0" "" "" "" "NF-B4_04" "00418611" "" "" "" "1" "" "00000" "{PMID:Katsanis 2000:10973251}" "family NF-B4 - probably family 4 from Slavotinek et al., 2002" "M" "" "" "" "0" "" "" "" "NF-B4_07" "00418612" "" "" "" "1" "" "00000" "{PMID:Katsanis 2000:10973251}" "family AR237" "F" "" "" "" "0" "" "" "" "AR237_04" "00418613" "" "" "" "1" "" "00000" "{PMID:Katsanis 2000:10973251}" "family AR237" "M" "" "" "" "0" "" "" "" "AR237_06" "00418614" "" "" "" "1" "" "00000" "{PMID:Katsanis 2000:10973251}" "single heterozygous" "M" "" "" "" "0" "" "" "" "AR301" "00418615" "" "" "" "1" "" "00000" "{PMID:Katsanis 2000:10973251}" "family NF-B13" "F" "" "" "" "0" "" "" "" "NF-B13_03" "00418616" "" "" "" "1" "" "00000" "{PMID:Katsanis 2000:10973251}" "family NF-B13" "M" "" "" "" "0" "" "" "" "NF-B13_04" "00418617" "" "" "" "1" "" "00000" "{PMID:Slavotinek 2002:12107442}" "" "M" "" "" "" "0" "" "" "" "patient 18" "00418618" "" "" "" "1" "" "00000" "{PMID:Slavotinek 2002:12107442}" "" "M" "" "" "" "0" "" "" "" "patient 6" "00418619" "" "" "" "1" "" "00000" "{PMID:Slavotinek 2002:12107442}" "" "F" "" "" "" "0" "" "" "" "patient 27" "00418620" "" "" "" "1" "" "00000" "{PMID:Slavotinek 2002:12107442}" "" "M" "" "" "" "0" "" "" "" "patient 19" "00418621" "" "" "" "1" "" "00000" "{PMID:Slavotinek 2002:12107442}" "" "F" "" "" "" "0" "" "" "" "patient 25" "00418622" "" "" "" "1" "" "00000" "{PMID:Andersen 2005:15483080}" "" "M;F" "" "" "" "0" "" "" "" "?" "00418623" "" "" "" "1" "" "00000" "{PMID:Andersen 2005:15483080}" "Family F-85, individual 51" "F" "" "" "" "0" "" "" "" "F85-51" "00418624" "" "" "" "1" "" "00000" "{PMID:Andersen 2005:15483080}" "Family F1159, individual 5 (proband)" "M" "" "" "" "0" "" "" "" "F1159-5" "00418625" "" "" "" "1" "" "00000" "{PMID:Andersen 2005:15483080}" "Family F1159, individual 1 (proband\'s father)" "M" "" "" "" "0" "" "" "" "F1159-1" "00418626" "" "" "" "1" "" "00000" "{PMID:Andersen 2005:15483080}" "Family F1159, individual 2 (proband\'s mother)" "F" "" "" "" "0" "" "" "" "F1159-2" "00418631" "" "" "" "1" "" "00000" "{PMID:Rouskas 2008:18813213}" "association study; 220 obese subjects, 330 non-obese controls" "M;F" "" "" "" "0" "" "" "" "?" "00418632" "" "" "" "1" "" "00000" "{PMID:Rouskas 2008:18813213}" "association study; 220 obese subjects, 330 non-obese controls" "M;F" "" "" "" "0" "" "" "" "?" "00418633" "" "" "" "1" "" "00000" "{PMID:Rouskas 2008:18813213}" "association study; 220 obese subjects, 330 non-obese controls" "M;F" "" "" "" "0" "" "" "" "?" "00418634" "" "" "" "1" "" "00000" "{PMID:Rouskas 2008:18813213}" "association study; 220 obese subjects, 330 non-obese controls" "M;F" "" "" "" "0" "" "" "" "?" "00418635" "" "" "" "1" "" "00000" "{PMID:Rouskas 2008:18813213}" "association study; 220 obese subjects, 330 non-obese controls" "M;F" "" "" "" "0" "" "" "" "?" "00418636" "" "" "" "1" "" "00000" "{PMID:Rouskas 2008:18813213}" "association study; 220 obese subjects, 330 non-obese controls" "M;F" "" "" "" "0" "" "" "" "?" "00418638" "" "" "" "1" "" "00000" "{PMID:Chetta 2011:22090721}" "" "F" "no" "" "" "0" "" "" "Italian" "?" "00418641" "" "" "" "1" "" "00000" "{PMID:Hulleman 2016:26900326}" "proband" "M" "yes" "" "" "0" "" "" "Indian" "Case A" "00418642" "" "" "" "1" "" "00000" "{PMID:Hulleman 2016:26900326}" "proband\'s sister" "F" "yes" "" "" "0" "" "" "Indian" "Case B" "00418647" "" "" "" "1" "" "00006" "{PMID:Smaoui 2006:16877420}" "" "" "yes" "Tunisia" "" "0" "" "" "" "Fam57005" "00418667" "" "" "" "1" "" "00006" "{PMID:Smaoui 2006:16877420}" "" "" "yes" "Tunisia" "" "0" "" "" "" "" "00418668" "" "" "" "1" "" "00006" "{PMID:Smaoui 2006:16877420}" "" "" "yes" "Tunisia" "" "0" "" "" "" "" "00418669" "" "" "" "1" "" "00006" "{PMID:Smaoui 2006:16877420}" "" "" "yes" "Tunisia" "" "0" "" "" "" "" "00418670" "" "" "" "1" "" "00006" "{PMID:Smaoui 2006:16877420}" "" "" "yes" "Tunisia" "" "0" "" "" "" "" "00418671" "" "" "" "1" "" "00006" "{PMID:Smaoui 2006:16877420}" "" "" "yes" "Tunisia" "" "0" "" "" "" "" "00418672" "" "" "" "1" "" "00006" "{PMID:Smaoui 2006:16877420}" "" "" "yes" "Tunisia" "" "0" "" "" "" "" "00418673" "" "" "" "1" "" "00006" "{PMID:Smaoui 2006:16877420}" "" "" "yes" "Tunisia" "" "0" "" "" "" "" "00418680" "" "" "" "1" "" "00000" "{PMID:Garcia-Tizon Larroca 2017:28396767}" "" "M" "" "" "" "0" "" "" "" "?" "00418683" "" "" "" "1" "" "00000" "{PMID:Ullah 2018:29232001}" "Family A, individual V-5, brother of V-6" "M" "yes" "Pakistan" "" "0" "" "" "" "A_V-5" "00418684" "" "" "" "1" "" "00000" "{PMID:Ullah 2018:29232001}" "Family A, individual V-6, sister of V-5" "F" "yes" "Pakistan" "" "0" "" "" "" "A_V-6" "00418685" "" "" "" "1" "" "00000" "{PMID:Ullah 2018:29232001}" "Family B, individual V-1, brother of V-4" "M" "yes" "Pakistan" "" "0" "" "" "" "B_V-1" "00418686" "" "" "" "1" "" "00000" "{PMID:Ullah 2018:29232001}" "Family B, individual V-4, sister of V-1" "F" "yes" "Pakistan" "" "0" "" "" "" "B_V-4" "00422676" "" "" "" "1" "" "00000" "{PMID:Aizawa 2020:31944471}" "sibling of Patient 2" "M" "" "Japan" "" "0" "" "" "" "Patient 1" "00422677" "" "" "" "1" "" "00000" "{PMID:Aizawa 2020:31944471}" "sibling of Patient 1" "M" "" "Japan" "" "0" "" "" "" "Patient 2" "00422678" "" "" "" "1" "" "00000" "{PMID:Goya 2020:31989739}" "North Indian family, tested with NGS" "M" "" "India" "" "0" "" "" "North Indian" "IV: 2" "00422679" "" "" "" "1" "" "00000" "{PMID:Goya 2020:31989739}" "North Indian family, sibling of IV:5" "M" "" "India" "" "0" "" "" "North Indian" "IV: 3" "00422680" "" "" "" "1" "" "00000" "{PMID:Goya 2020:31989739}" "North Indian family, proband, sibling of IV:3" "M" "" "India" "" "0" "" "" "North Indian" "IV: 5" "00422681" "" "" "" "1" "" "00000" "{PMID:Mishima 2020:33363891}" "" "F" "no" "Japan" "" "0" "" "" "Japanese" "?" "00447022" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "M" "" "Germany" "" "0" "" "" "" "BBS-33" "00447611" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "F" "" "Germany" "" "0" "" "" "" "SRP-1183" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 191 "{{individualid}}" "{{diseaseid}}" "00060204" "04212" "00165229" "04212" "00276325" "04578" "00292863" "00198" "00292864" "00198" "00292865" "00198" "00309639" "04214" "00309641" "04214" "00309642" "04214" "00309643" "04214" "00309645" "04214" "00318008" "00139" "00332190" "04214" "00333365" "04214" "00334089" "04214" "00334090" "04214" "00358807" "04212" "00358964" "04214" "00358972" "04214" "00358977" "04214" "00358980" "04214" "00363647" "04214" "00375422" "04214" "00380358" "04214" "00380364" "04214" "00382325" "04214" "00382563" "04214" "00382894" "04214" "00382895" "04214" "00382896" "04214" "00382898" "04214" "00383058" "04214" "00383081" "04214" "00383113" "04214" "00383114" "04214" "00383115" "04214" "00383116" "04214" "00383133" "04214" "00383149" "04214" "00383154" "04214" "00383213" "04214" "00383238" "04214" "00383239" "04214" "00383240" "04214" "00383285" "04214" "00383286" "04214" "00383287" "04214" "00383295" "04214" "00383296" "04214" "00383322" "04214" "00383323" "04214" "00383330" "04214" "00383345" "04214" "00383346" "04214" "00383360" "04214" "00383361" "04214" "00383362" "04214" "00383363" "04214" "00383367" "04214" "00383369" "04214" "00383370" "04214" "00383371" "04214" "00383374" "04214" "00383466" "04214" "00383663" "04214" "00384678" "04214" "00384679" "04214" "00384680" "04214" "00384704" "04214" "00384705" "04214" "00384706" "04214" "00384707" "04214" "00384713" "04214" "00384723" "04214" "00384728" "04214" "00384823" "04214" "00384824" "04214" "00384827" "04214" "00385182" "04214" "00385240" "04214" "00385247" "04214" "00385257" "04214" "00385285" "04214" "00385306" "04214" "00385346" "04214" "00385347" "04214" "00385348" "04214" "00385349" "04214" "00385361" "04214" "00385370" "04214" "00385376" "04214" "00385583" "04214" "00385599" "04214" "00385600" "04214" "00385619" "04214" "00385948" "04214" "00385949" "04214" "00385950" "04214" "00387444" "04214" "00387475" "04214" "00387476" "04214" "00387588" "04214" "00387589" "04214" "00387593" "04214" "00388141" "04214" "00388316" "04214" "00388317" "04214" "00388318" "04214" "00388498" "04214" "00391214" "04214" "00391376" "04214" "00392308" "04214" "00392749" "04214" "00392750" "04214" "00394356" "04214" "00394476" "04214" "00394477" "04214" "00395567" "04214" "00395574" "04214" "00395583" "04214" "00396581" "04214" "00396583" "04214" "00396585" "04214" "00396587" "04214" "00407656" "04214" "00412486" "04214" "00417530" "04212" "00417531" "04212" "00417532" "04212" "00417533" "04212" "00417534" "04212" "00417839" "04212" "00418583" "01028" "00418584" "01028" "00418585" "04212" "00418586" "04212" "00418587" "04212" "00418588" "04212" "00418589" "04212" "00418590" "04212" "00418606" "04212" "00418607" "04212" "00418608" "04212" "00418609" "04212" "00418610" "04212" "00418611" "04212" "00418612" "04212" "00418613" "04212" "00418614" "04212" "00418615" "04212" "00418616" "04212" "00418617" "04212" "00418618" "04212" "00418619" "04212" "00418620" "04212" "00418621" "04212" "00418622" "00259" "00418623" "00259" "00418624" "00259" "00418625" "00259" "00418626" "00259" "00418631" "00259" "00418632" "00259" "00418633" "00259" "00418634" "00259" "00418635" "00259" "00418636" "00259" "00418638" "04212" "00418641" "04212" "00418642" "04212" "00418647" "04212" "00418667" "04212" "00418668" "04212" "00418669" "04212" "00418670" "04212" "00418671" "04212" "00418672" "04212" "00418673" "04212" "00418680" "04212" "00418683" "04212" "00418684" "04212" "00418685" "04212" "00418686" "04212" "00422676" "04212" "00422677" "04212" "00422678" "04214" "00422679" "04214" "00422680" "04214" "00422681" "04212" "00447022" "00198" "00447611" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 00259, 01028, 04212, 04214, 04578 ## Count = 179 "{{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}}" "0000046694" "04212" "00060204" "00244" "Familial, autosomal recessive" "" "retinitis pigmentosa, postaxial polydactyly, weight gain anomaly, learning disabilities, kidney cysts, poor coordination" "<10y" "" "" "" "" "" "" "" "" "" "" "0000210916" "04578" "00276325" "03470" "Familial, autosomal recessive" "00y17m" "Polydactyly\r\nRenal abnormalities\r\nGenital abnormalities\r\nDental abnormalities\r\nFacial dysmorphism" "" "00y17m" "" "" "" "" "" "" "BBS6" "" "" "0000234958" "04214" "00309639" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "BBS, variable" "" "0000234960" "04214" "00309641" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "BBS, variable" "" "0000234961" "04214" "00309642" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "BBS, variable" "" "0000234962" "04214" "00309643" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "BBS, variable" "" "0000234964" "04214" "00309645" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "BBS, variable" "" "0000241792" "00139" "00318008" "00006" "Familial, autosomal recessive" "" "Moderate ID, speech delay, strabismus, retinitis pigmentosa, polydactyly, obesity." "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000250377" "04214" "00332190" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinal degeneration (Batten disease)" "" "0000251552" "04214" "00333365" "00000" "Unknown" "59y" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000252274" "04214" "00334089" "00000" "Familial, autosomal recessive" "19y" "clinical category IB2" "" "" "" "" "" "" "" "" "" "Bardet Biedl syndrome" "" "0000252275" "04214" "00334090" "00000" "Familial, autosomal recessive" "26y" "clinical category IB2" "" "" "" "" "" "" "" "" "" "Bardet Biedl syndrome" "" "0000254022" "04212" "00358807" "00000" "Unknown" "5y" "see paper; ..." "" "" "" "" "" "" "" "" "" "Bardet-Biedl Syndrome" "" "0000254262" "04214" "00358964" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000254270" "04214" "00358972" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Best macular dystrophy" "" "0000254275" "04214" "00358977" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000254278" "04214" "00358980" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000258997" "04214" "00363647" "00000" "Isolated (sporadic)" "" "non-syndromic" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, cone-rod dystrophy" "" "0000270636" "04214" "00375422" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000274209" "04214" "00380358" "00000" "Familial, autosomal recessive" "7y" "retinitis pigmentaria" "" "" "" "" "" "" "" "" "" "Bardet–Biedl syndrome" "" "0000274215" "04214" "00380364" "00000" "Familial, autosomal recessive" "11y" "retinitis pigmentaria" "" "" "" "" "" "" "" "" "" "Bardet–Biedl syndrome" "" "0000276174" "04214" "00382325" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "" "0000276412" "04214" "00382563" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Cone dystrophy" "" "0000276750" "04214" "00382894" "00000" "Familial, autosomal recessive" "" "retinitis pigmentosa (RP), obesity (Ob), polydactyly (PD), developmental delay (Dev), gonadal and renal malformations" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "0000276751" "04214" "00382895" "00000" "Familial, autosomal recessive" "" "retinitis pigmentosa (RP), obesity (Ob), polydactyly (PD), developmental delay (Dev), gonadal and renal malformations" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "0000276752" "04214" "00382896" "00000" "Familial, autosomal recessive" "" "retinitis pigmentosa (RP), obesity (Ob), polydactyly (PD), developmental delay (Dev), gonadal and renal malformations" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "0000276754" "04214" "00382898" "00000" "Familial, autosomal recessive" "" "retinitis pigmentosa (RP), obesity (Ob), polydactyly (PD) and renal malformations (Ren)" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "0000276848" "04214" "00383058" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa (RP)" "" "0000276871" "04214" "00383081" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa (RP)" "" "0000276903" "04214" "00383113" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl syndrome (BBS)" "" "0000276904" "04214" "00383114" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl syndrome (BBS)" "" "0000276905" "04214" "00383115" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl syndrome (BBS)" "" "0000276906" "04214" "00383116" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl syndrome (BBS)" "" "0000276923" "04214" "00383133" "00000" "Familial, autosomal recessive" "" "learning disability, polydactyly" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "0000276939" "04214" "00383149" "00000" "Familial, autosomal recessive" "" "obesity, hypogonadism, learning disability" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "0000276944" "04214" "00383154" "00000" "Familial, autosomal recessive" "" "obesity, hypogonadism, learning disability" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "0000277000" "04214" "00383213" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000277025" "04214" "00383238" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000277026" "04214" "00383239" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000277027" "04214" "00383240" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000277070" "04214" "00383285" "00000" "Familial, autosomal recessive" "8y" "RP, retinitis pigmentosa; PAP, postaxial polydactyly; MR, mental retardation; Renal, both structurally and functionally renal anomalies" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000277071" "04214" "00383286" "00000" "Familial, autosomal recessive" "5y" "RP, retinitis pigmentosa; PAP, postaxial polydactyly; MR, mental retardation; Renal, both structurally and functionally renal anomalies" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000277072" "04214" "00383287" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000277080" "04214" "00383295" "00000" "Familial, autosomal recessive" "7y" "RP, retinitis pigmentosa; PAP, postaxial polydactyly; MR, mental retardation; Renal, both structurally and functionally renal anomalies; Hypogenitalism" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000277081" "04214" "00383296" "00000" "Familial, autosomal recessive" "10y" "RP, retinitis pigmentosa; PAP, postaxial polydactyly; MR, mental retardation" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000277107" "04214" "00383322" "00000" "Familial, autosomal recessive" "" "night blindness, obesity, mental delay, polydactyly" "3y" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000277108" "04214" "00383323" "00000" "Familial, autosomal recessive" "" "night blindness, obesity, mental delay, polydactyly (left-hand)" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000277115" "04214" "00383330" "00000" "Familial, autosomal recessive" "7y" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000277130" "04214" "00383345" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000277131" "04214" "00383346" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000277145" "04214" "00383360" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000277146" "04214" "00383361" "00000" "Di-genic" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000277147" "04214" "00383362" "00000" "Complex" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000277148" "04214" "00383363" "00000" "Complex" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000277152" "04214" "00383367" "00000" "Complex" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000277154" "04214" "00383369" "00000" "Complex" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000277155" "04214" "00383370" "00000" "Complex" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000277156" "04214" "00383371" "00000" "Complex" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000277159" "04214" "00383374" "00000" "Complex" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000277251" "04214" "00383466" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "" "0000277448" "04214" "00383663" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl syndro" "" "0000278461" "04214" "00384678" "00000" "Familial, autosomal recessive" "4y1m" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000278462" "04214" "00384679" "00000" "Familial, autosomal recessive" "8y2m" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000278463" "04214" "00384680" "00000" "Familial, autosomal recessive" "18y6m" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000278487" "04214" "00384704" "00000" "Familial, autosomal recessive" "17y11m" "weight anomalies, digit anomaly" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000278488" "04214" "00384705" "00000" "Familial, autosomal recessive" "14y6m" "weight anomalies, digit anomaly, severe cognitive impairment" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000278489" "04214" "00384706" "00000" "Familial, autosomal recessive" "12y10m" "weight anomalies, digit anomaly" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000278490" "04214" "00384707" "00000" "Familial, autosomal recessive" "5y" "weight anomalies, digit anomaly" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000278496" "04214" "00384713" "00000" "Familial, autosomal recessive" "25y4m" "weight anomalies, digit anomaly" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000278506" "04214" "00384723" "00000" "Familial, autosomal recessive" "15y1m" "weight anomalies, digit anomaly" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000278511" "04214" "00384728" "00000" "Familial, autosomal recessive" "4y1m" "polydactyly of two limbs, congenital heart disease, genitourinary sinus anomalies and distal vaginal stenosis with secondary hydrocolpos and hydronephrosis at birth, digit anomaly, combined BBS/MKKS phenotype" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000278606" "04214" "00384823" "00000" "Familial, autosomal recessive" "" "obesity, mental retardation, renal disease, polydactyly, typical facies, ventricular septal defect" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa (RP)" "" "0000278607" "04214" "00384824" "00000" "Familial, autosomal recessive" "" "obesity, mental retardation, renal disease, polydactyly, typical facies, ventricular septal defect" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa (RP)" "" "0000278610" "04214" "00384827" "00000" "Familial, autosomal recessive" "" "obesity, polydactyly" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa (RP)" "" "0000278978" "04214" "00385182" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000279036" "04214" "00385240" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000279043" "04214" "00385247" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000279053" "04214" "00385257" "00000" "Familial, autosomal recessive" "" "Polydactyly, kidney features, retinitis pigmentosa, hydrometrocolpos, urogenital sinus malformation" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000279081" "04214" "00385285" "00000" "Familial, autosomal recessive" "7y" "obesity, retinitis pigmentosa, polydactyly, hypogenitalism,mental retardation" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000279102" "04214" "00385306" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000279142" "04214" "00385346" "00000" "Familial, autosomal recessive" "19y4m" "retinal dystrophy, weight anomaly, digit anomaly, renal structure anomaly, Liver str, Liver fx,Cryptochidism" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000279143" "04214" "00385347" "00000" "Familial, autosomal recessive" "17y8m" "retinal dystrophy, weight anomaly, digit anomaly, cognitive impairement, developmental delay, developmental delay, developmental delay, renal structure anomaly, Liver str, Liver fx, Hearing abn, Heart anomaly, HBP, AsthmaCryptochidismHyperphagia, Teeth crowding, Sleep apnea, RTIs" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000279144" "04214" "00385348" "00000" "Familial, autosomal recessive" "7y6m" "retinal dystrophy, weight anomaly, digit anomaly, Diabetes, Heart anomaly, Asthma" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000279145" "04214" "00385349" "00000" "Familial, autosomal recessive" "12y10m" "retinal dystrophy, weight anomaly, digit anomaly, developmental delay, developmental delay, developmental delay, Abnormal genitaliaHyperphagia, OCD, ADD" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000279157" "04214" "00385361" "00000" "Familial, autosomal recessive" "32y" "retinal dystrophy, weight anomaly, digit anomaly, cognitive impairement, developmental delay, developmental delay, developmental delay, renal structure anomaly, Scoliosis, HBP, DiabetesDepression, Hirsutism" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000279166" "04214" "00385370" "00000" "Familial, autosomal recessive" "15y1m" "retinal dystrophy, weight anomaly, digit anomaly," "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000279172" "04214" "00385376" "00000" "Familial, autosomal recessive" "4y1m" "retinal dystrophy, weight anomaly, digit anomaly, cognitive impairement, developmental delay, developmental delay, developmental delay, Heart anomaly, Dislipidemia, HyperinsulinemiaHydrometrocolpos" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000279378" "04214" "00385583" "00000" "Familial, autosomal recessive" "" "retinitis pigmentosa, postaxial polydactyly, obesity, hypogonadism, renal anomalies, AST,DD,MC,SD,SYN" "" "" "" "" "" "" "" "" "" "Bardet–Biedl syndrome (BBS)" "" "0000279394" "04214" "00385599" "00000" "Familial, autosomal recessive" "" "postaxial polydactyly, obesity, hypogonadism, renal anomalies" "" "" "" "" "" "" "" "" "" "Bardet–Biedl syndrome (BBS)" "" "0000279395" "04214" "00385600" "00000" "Familial, autosomal recessive" "" "Retinitis pigmentosa, postaxial polydactyly, obesity, hypogonadism" "" "" "" "" "" "" "" "" "" "Bardet–Biedl syndrome (BBS)" "" "0000279414" "04214" "00385619" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa (RP)" "" "0000279749" "04214" "00385948" "00000" "Familial, autosomal recessive" "" "Night blindness, retinitis pigmentosa, postaxial polydactyly both feet, normal weight, learning disabilities" "3y" "" "" "" "" "" "" "" "" "Bardet–Biedl syndrome (BBS)" "" "0000279750" "04214" "00385949" "00000" "Familial, autosomal recessive" "" "Night blindness, retinitis pigmentosa, postaxial polydactyly both feet, Obese, learning disabilities, kidney cysts, kidney transplant, poor coordination" "10y" "" "" "" "" "" "" "" "" "Bardet–Biedl syndrome (BBS); polycystic kidney disease (PKD)" "" "0000279751" "04214" "00385950" "00000" "Familial, autosomal recessive" "" "Night blindness, retinitis pigmentosa, postaxial polydactyly one foot, Overweight, learning disabilities" "8y" "" "" "" "" "" "" "" "" "Bardet–Biedl syndrome (BBS)" "" "0000281007" "04214" "00387444" "00000" "Familial, autosomal recessive" "41y" "retinal dystrophy, obesity, polydactyly, brachydactyly/syndactyly, cognitive impairment, urogenital anomalies, renal abnormalities, Asthma" "18y" "" "" "" "" "" "" "" "" "Alstrom syndrome (ALMS)" "" "0000281038" "04214" "00387475" "00000" "Familial, autosomal recessive" "36y" "retinal dystrophy, obesity, polydactyly, cognitive impairment, urogenital anomalies, renal abnormalities," "3y" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "0000281039" "04214" "00387476" "00000" "Familial, autosomal recessive" "43y" "retinal dystrophy, obesity, polydactyly, brachydactyly/syndactyly, cognitive impairment, psychomotor delay, cardiovascular abnormalities," "3y" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "0000281151" "04214" "00387588" "00000" "Familial, autosomal recessive" "36y" "" "7y" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "" "0000281152" "04214" "00387589" "00000" "Familial, autosomal recessive" "36y" "" "7y" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "" "0000281156" "04214" "00387593" "00000" "Familial" "" "Intellectual disability, ocular lesion, polydactyly, obesity, polycystic ovary, pulmonary nodular lesion, bilateral retinitis pigmentosa, living-donor renal transplantation" "37y" "" "" "" "" "" "" "" "" "Nephronophthisis-related ciliopathies (NPHP-RC)" "" "0000281735" "04214" "00388141" "00000" "Familial, autosomal recessive" "10y" "polydipsia, polyuria, kidney malformations (renal cysts), renal dysfunction, retinal degeneration, cognitive impairment, polydactyly, enamel hypoplasia, short stature and myocardial damage." "6y" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "0000281868" "04214" "00388316" "00000" "Familial, autosomal recessive" "38y" "retinitis pigmentosa, polydactyly both hands, obesity, cognitive Impairment, renal Impairment" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "0000281869" "04214" "00388317" "00000" "Familial, autosomal recessive" "17y" "retinitis pigmentosa, polydactyly left hand and both feet, obesity, hypogonadism, cognitive Impairment, renal Impairment" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "0000281870" "04214" "00388318" "00000" "Familial, autosomal recessive" "15y" "retinitis pigmentosa, polydactyly right hand only, obesity, hypogonadism, cognitive Impairment, renal Impairment" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "0000282050" "04214" "00388498" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000284656" "04214" "00391214" "00000" "Familial, autosomal recessive" "17m" "BMI: 21.3, polydactyly, intellectual disability: unknown, renal abnormalities, genital abnormalities, speech disorder: unknown, no developmental delay, diabetes mellitus, Hutchinsonlike upper central incisors MKKS c.775del" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "" "0000284816" "04214" "00391376" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome 6 (605231)" "Bardet-Biedl syndrome 6 (605231)" "" "0000285584" "04214" "00392308" "00000" "Familial, autosomal recessive" "19y" "uncorrected visual acuity right/left eye: counting fingers 5cm/hand movement 20 cm, BMI: 23.9, nystagmus, polydactyly" "" "" "" "" "" "" "" "" "Bardet-Biedl Syndrome" "Bardet-Biedl Syndrome" "" "0000285996" "04214" "00392749" "00000" "Familial, autosomal recessive" "24y" "polydactyly in both hands and feet, night blindness and loss of peripheral vision in childhood, severe nystagmus, obesity and kidney failure;end-stage renal disease and kidney transplantation at 12 years old; late sexual maturity at 17 years old; normal anterior segment findings, progressive peripheral visual loss, dull foveal reflex with pigmentary changes in the macula region, pale optic disc in the proband’s right eye; left eye bone spicule hyperpigmentation, OCT: chorocapillaris layer’s attenuation; electroretinography at 24 years old: reduced and delayed scotopic respo" "0m" "" "polydactyly" "" "" "" "" "" "Bardet-Biedl syndrome" "Bardet-Biedl syndrome" "" "0000285997" "04214" "00392750" "00000" "Familial, autosomal recessive" "5y" "obesity; only left hand and foot polydactyly; fetal ultrasonography: renal abnormalities similar to polycystic kidney at present, she has high levels of plasma urine and creatinine; mild nyctalopia; astigmatism and nystagmus. Fundus: pale optic disc, no bone spicules. OCT of right eye showed a decrease in central fovea thickness" "0m" "" "polydactyly" "" "" "" "" "" "Bardet-Biedl syndrome" "Bardet-Biedl syndrome" "" "0000287560" "04214" "00394356" "00000" "Familial, autosomal dominant" "" "Increased pressure on optic nerve, electroretinogram consistent with Alstrom syndrome" "" "" "" "" "" "" "" "" "Alagille syndrome" "" "" "0000287679" "04214" "00394476" "00000" "Familial, autosomal recessive" "" "hypogonadism" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome" "" "0000287680" "04214" "00394477" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome" "" "0000288765" "04214" "00395567" "00000" "Familial, autosomal recessive" "" "cataract, cone/cone-rod dystrophy, macular degeneration, myopia, obesity, postaxial foot polydactyly, aganglionic megacolon, constipation" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome, Hirschprung disease" "Bardet-Biedl-like syndrome" "" "0000288772" "04214" "00395574" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "" "" "0000288781" "04214" "00395583" "00000" "Familial, autosomal recessive" "" "cataract, exotropia, rod-cone dystrophy, posterior vitreous detachment, obesity, abnormality of the thyroid gland" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "" "" "0000289742" "04214" "00396581" "00000" "Familial, autosomal recessive" "" "Retrognathia, club feet, polydactyly, postaxial, lower limbs, upper limbs, kidney abnormality, enlarged kidneys, hyperechogenic kidneys, renal cysts" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "0000289744" "04214" "00396583" "00000" "Familial, autosomal recessive" "" "polydactyly, postaxial, lower limbs, upper limbs, kidney abnormality, renal cysts, hepatic anomaly, cns anomaly" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "0000289746" "04214" "00396585" "00000" "Familial, autosomal recessive" "" "polydactyly, postaxial, upper limbs" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "0000289748" "04214" "00396587" "00000" "Familial, autosomal recessive" "" "Lung hypoplasia, polydactyly, postaxial, lower limbs, upper limbs, kidney abnormality, enlarged kidneys, renal cysts" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "0000299803" "04214" "00407656" "00000" "Familial, autosomal recessive" "" "end-stage renal disease (years): 11.8, extra-renal manifestations: strabismus, cerebellar vermis aplasia, developmental delay, seizures" "" "" "" "" "" "" "" "" "nephronophthisis-related ciliopathy" "" "" "0000304488" "04214" "00412486" "00000" "Familial, autosomal recessive" "" "sensorineural features: retinal dystrophy; abnormalities of the hands and feet: postaxial polydactyly; obesity; no intellectual disability; no learning difficulty; no speech delay; no slow ideation; no motor development delay; urogenital anomalies" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "" "" "0000309010" "04212" "00417530" "00000" "Familial, autosomal recessive" "" "obesity; intellectual disability; renal symptoms: none; retinitis pigmentosa; polydactyly; no deafness; no anosmia; atopy; BBS facies; congenital heart disease: ventricular septal defect; fatty liver: none; no hypogenitalism" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "" "0000309011" "04212" "00417531" "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: atrial septal defect; fatty liver: none; hypogenitalism" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "" "0000309012" "04212" "00417532" "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: patent ductus arteriosus; fatty liver: none; hypogenitalism" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "" "0000309013" "04212" "00417533" "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; hypogenitalism" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "" "0000309014" "04212" "00417534" "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; hypogenitalism" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "" "0000309207" "04212" "00417839" "00000" "Familial, autosomal recessive" "20y" "kidneys: progressive renal failure; polydactyly: upper limbs, left foot; other: antenatally association of enlarged hyperechogenic kidneys and postaxial polydactyly, described previously (case 7 of Karmous-Benailly et al.); after birth, the size of the kidneys decreased to normal, while progressive renal failure appeared; 3y: obesity, 12y: vision normal, electroretinogram: progressive retinal dystrophy, liver normal" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "" "0000309919" "01028" "00418583" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "McKusick-Kaufman syndrome" "" "" "0000309920" "01028" "00418584" "00000" "Familial, autosomal recessive" "" "hydrometrocolpos surgically repaired on the first day of life; postaxial polydactyly of one hand and both feet; an atrioventricular septal defect without significant shunting diagnosed originally by fetal echocardiography;other abnormalities noted at birth: hypoplastic clitoris with prominent labia majora, cystic dysplasia of the kidneys with mild hydronephrosis and small ears" "" "" "" "" "" "" "" "" "McKusick-Kaufman syndrome" "" "" "0000309921" "04212" "00418585" "00000" "Familial, autosomal recessive" "13y" "retinitis pigmentosa; mental retardation; obesity (body mass index >40); postaxial polydactyly" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "" "0000309922" "04212" "00418586" "00000" "Familial, autosomal recessive" "" "retinitis pigmentosa; mental retardation; morbid obesity (body mass index > 50); postaxial polydactyly, lobulated kidneys with prominent calyces and diabetes mellitus (diagnosed at 33y)" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "" "0000309923" "04212" "00418587" "00000" "Familial, autosomal recessive" "" "retinitis pigmentosa; mental retardation; morbid obesity (body mass index >37); postaxial polydactyly, lobulated kidneys with prominent calyces and diabetes mellitus (diagnosed at 30y)" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "" "0000309924" "04212" "00418588" "00000" "Familial, autosomal recessive" "4y" "reduced visual acuity, obesity, cystic kidneys, postaxial polydactyly" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "" "0000309925" "04212" "00418589" "00000" "Familial, autosomal recessive" "" "severe retinitis pigmentosa, postaxial polydactyly, morbid obesity and diabetes mellitus" "" "5y" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "" "0000309926" "04212" "00418590" "00000" "Familial, autosomal recessive" "" "retinitis pigmentosa, postaxial polydactyly, obesity, lobulated cystic kidneys and diabetes mellitus" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "" "0000309942" "04212" "00418606" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "" "0000309943" "04212" "00418607" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "" "0000309944" "04212" "00418608" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "" "0000309945" "04212" "00418609" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "" "0000309946" "04212" "00418610" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "" "0000309947" "04212" "00418611" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "" "0000309948" "04212" "00418612" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "" "0000309949" "04212" "00418613" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "" "0000309950" "04212" "00418614" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "" "0000309951" "04212" "00418615" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "" "0000309952" "04212" "00418616" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "" "0000309953" "04212" "00418617" "00000" "Familial, autosomal recessive" "" "ocular findings: retinitis pigmentosa: yes; myopia: no; digital anomalies: postaxial polydactyly hands: yes; postaxial polydactyly feet: no; insertional polydactyly: no; brachydactyly: yes; syndactyly: no; weight: <90th centile: no; neurologic: developmental delay: yes; seizures: no; genitalia: hydrometrocolpos: no; vaginal agenesis/transverse membrane: no; urogenital sinus: no; absent uterus: no; micropenis: no; renal anomalies: hydronephrosis: no; renal cysts: no; renal failure: no; small kidneys: no; other: hypothyroidism: no; nonnoinsulin dependent diabetes mellitus: no; Hirschsprung disease:no" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "" "0000309954" "04212" "00418618" "00000" "Familial, autosomal recessive" "" "ocular findings: retinitis pigmentosa: yes; myopia: yes; digital anomalies: postaxial polydactyly hands: yes; postaxial polydactyly feet: yes; insertional polydactyly: no; brachydactyly: yes; syndactyly: yes; weight: <90th centile: yes; neurologic: developmental delay: yes; seizures: no; genitalia: hydrometrocolpos: no; vaginal agenesis/transverse membrane: no; urogenital sinus: no; absent uterus: no; micropenis: no; renal anomalies: hydronephrosis: no; renal cysts: no; renal failure: no; small kidneys: no; other: hypothyroidism: no; nonnoinsulin dependent diabetes mellitus: no; Hirschsprung disease:yes" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "" "0000309955" "04212" "00418619" "00000" "Familial, autosomal recessive" "" "ocular findings: retinitis pigmentosa: yes; myopia: no; digital anomalies: postaxial polydactyly hands: yes; postaxial polydactyly feet: no; insertional polydactyly: no; brachydactyly: no; syndactyly: no; weight: <90th centile: no; neurologic: developmental delay: yes; seizures: no; genitalia: hydrometrocolpos: no; vaginal agenesis/transverse membrane: no; urogenital sinus: no; absent uterus: no; micropenis: no; renal anomalies: hydronephrosis: no; renal cysts: no; renal failure: no; small kidneys: no; other: hypothyroidism: yes; nonnoinsulin dependent diabetes mellitus: no; Hirschsprung disease:no" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "" "0000309956" "04212" "00418620" "00000" "Familial, autosomal recessive" "" "ocular findings: retinitis pigmentosa: yes; myopia: no; digital anomalies: postaxial polydactyly hands: yes; postaxial polydactyly feet: yes; insertional polydactyly: no; brachydactyly: yes; syndactyly: no; weight: <90th centile: yes; neurologic: developmental delay: yes; seizures: no; genitalia: hydrometrocolpos: no; vaginal agenesis/transverse membrane: no; urogenital sinus: no; absent uterus: no; micropenis: yes; renal anomalies: hydronephrosis: no; renal cysts: no; renal failure: no; small kidneys: no; other: hypothyroidism: no; nonnoinsulin dependent diabetes mellitus: no; Hirschsprung disease:no" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "" "0000309957" "04212" "00418621" "00000" "Familial, autosomal recessive" "" "ocular findings: retinitis pigmentosa: yes; myopia: no; digital anomalies: postaxial polydactyly hands: yes; postaxial polydactyly feet: no; insertional polydactyly: no; brachydactyly: yes; syndactyly: no; weight: <90th centile: yes; neurologic: developmental delay: no; seizures: no; genitalia: hydrometrocolpos: no; vaginal agenesis/transverse membrane: no; urogenital sinus: no; absent uterus: no; micropenis: no; renal anomalies: hydronephrosis: yes; renal cysts: no; renal failure: no; small kidneys: no; other: hypothyroidism: no; nonnoinsulin dependent diabetes mellitus: no; Hirschsprung disease:no" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "" "0000309958" "00259" "00418622" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "obesity" "" "" "0000309959" "00259" "00418623" "00000" "Unknown" "56y" "body mass index: 40.1 (obese)" "" "" "" "" "" "" "" "" "obesity" "" "" "0000309960" "00259" "00418624" "00000" "Unknown" "27y" "body mass index: 29.2 (overweight)" "" "" "" "" "" "" "" "" "obesity" "" "" "0000309961" "00259" "00418625" "00000" "Unknown" "27y" "body mass index: 29.2 (overweight)" "" "" "" "" "" "" "" "" "obesity" "" "" "0000309962" "00259" "00418626" "00000" "Unknown" "27y" "body mass index: 29.2 (overweight)" "" "" "" "" "" "" "" "" "obesity" "" "" "0000309964" "00259" "00418631" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "obesity" "" "" "0000309965" "00259" "00418632" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "obesity" "" "" "0000309966" "00259" "00418633" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "obesity" "" "" "0000309967" "00259" "00418634" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "obesity" "" "" "0000309968" "00259" "00418635" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "obesity" "" "" "0000309969" "00259" "00418636" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "obesity" "" "" "0000309974" "04212" "00418638" "00000" "Familial, autosomal recessive" "0m" "McKusick-Kaufman / Bardet-Biedl syndrome borderline case; birth weight: 2 550 g with, length of 42 cm (< 3rd centile); head circumference of 31.3 cm (< 3rd centile); APGAR score: 1’(7)/5’ (8); postaxial hexadactyly a large abdominal mass displacing the intestine and elevating the diaphragms; abdominal magnetic resonance imaging: large cystic mass originating from the pelvic floor and hydrometrocolpos, fluid-filled that compressed and displaced the urinary bladder anteriorly; bladder catheter about 150 cc of brown fluid accumulated was drai" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "" "" "0000309975" "04212" "00418641" "00000" "Familial, autosomal recessive" "18y" "chief complaint: poor vision and night blindness; best corrected visual acuity right, left eye: 20/40, 20/70; slit-lamp examination anterior segments: trace bilateral subcapsular cataracts; fundus examination: bilateral optic nerve head pallor, retinal vascular attenuation, and retinal pigment epithelium degeneration of the macula and the peripheral retina; height: 175 cm (50th percentile); weight: 47.9 kg (<5th percentile), no evidence of truncal obesity (BMI 16); post-axial polydactyly of the hands and feet; cardiac, abdominal, and genitourinary exams: normal; normal sexual development for his age; no overt cognitive deficits were noted, but he had poor scholastic performance in school; abdomen ultrasonography: a small right renal calculus (stone); no kidney or other organ abnormalities" "10y" "" "poor vision and night blindness" "" "" "" "" "" "Bardet-Biedl syndrome" "" "" "0000309976" "04212" "00418642" "00000" "Familial, autosomal recessive" "13y" "chief complaint: poor vision and night blindness; best corrected visual acuity right, left eye: 20/300, 20/40; slit-lamp examination of the anterior segments: unremarkable; fundus examination: bilateral optic nerve head pallor, retinal vascular attenuation, and retinal pigment epithelium degeneration of the macula and the peripheral retina with mild bone spicule-like formation; bilateral retinal macular thinning; normal growth and development; height: 150 cm (10th percentile), weight: 24 kg (10th percentile) without any truncal obesity (BMI 15); post-axial polydactyly of the hands and feet; cardiac, abdominal, and genitourinary exams: normal; normal sexual development for her age and had attained menarche with a regular cycle; no overt cognitive deficits, poor scholastic performance in school; abdomen ultrasonography: unremarkable" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "" "" "0000309980" "04212" "00418680" "00000" "Familial, autosomal recessive" "" "BBS diagnosed during the second trimester of pregnancy with prenatal suspicion presented by routine ultrasound examination findings of enlarged and hyperechogenic kidneys; unilateral right postaxial foot polydactyly observed on the 20-week scan, no other relevant findings; the bladder size and amniotic fluid appeared normal until late pregnancy; prenatal ultrasound examination and assessment of fetal growth - no other relevant abnormalities during the third trimester of pregnancy. Labor induced at 37 weeks due to oligo-anhydramnios and the suspicion of renal function deterioration; assisted vaginal delivery with forceps; 3480-g male neonate, Apgar 6/8, pH 7.23, was born in our center; no resuscitation was required; the baby was admitted to the neonatal intensive care unit (NICU) due to hypoglycemia and for further study; abdominal distension and vomiting: 24 h after birth; abdominal X-ray: a markedly dilated bowel; nasogastric tube was placed, and serial rectal irrigations were performed; fever and increased abdominal distension evident 4 days after delivery; emergent laparotomy was conducted - during the procedure, a sigmoid perforation closure, ileostomy, and biopsy were performed with no relevant complications. Histologic evaluation of the biopsy demonstrated an absence of ganglion cells in the sigmoid submucosal and myenteric plexuses, which indicates a definitive finding of Hirschsprung disease; discharged from the NICU after one month with spontaneous diuresis of 2.9 cc/kg/h and a creatinine level of 0.69 mg/dL" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "" "" "0000309982" "04212" "00418683" "00000" "Familial, autosomal recessive" "17y" "retinitis pigmentosa; postaxial polydactyly hands and feet; obesity; hypogonadism; cognitive impairment: severe; renal impairment: absent; dental anomaly: present; clinodactyly/brachydactyly: absent" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "" "" "0000309983" "04212" "00418684" "00000" "Familial, autosomal recessive" "11y" "retinitis pigmentosa; postaxial polydactyly in right foot only; obesity; hypogonadism; cognitive impairment: mild; renal impairment: absent; dental anomaly: absent; clinodactyly/brachydactyly: absent" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "" "" "0000309984" "04212" "00418685" "00000" "Familial, autosomal recessive" "18y" "retinitis pigmentosa; postaxial polydactyly hands only; obesity; hypogonadism; cognitive impairment: severe; renal impairment: present; dental anomaly: absent; clinodactyly/brachydactyly: present" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "" "" "0000309985" "04212" "00418686" "00000" "Familial, autosomal recessive" "7y" "no retinitis pigmentosa; postaxial polydactyly feet only; no obesity; hypogonadism; cognitive impairment: mild; renal impairment: present; dental anomaly: absent; clinodactyly/brachydactyly: present" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "" "" "0000313880" "04212" "00422676" "00000" "Familial, autosomal recessive" "" "diagnosed prenatally as having hyperechoic kidneys and left hydronephrosis; postaxial polydactyly in the left hand and his right foot; serum creatinine and urinary b2 microglobulin (b2MG) levels elevated (1.58 mg/dL and 17 550 ug/L) at birth; after birth, serum creatinine levels decreased gradually (0.5 mg/dL at 2 months of age), but urinary b2-MG levels remained high; magnetic resonance imaging: right renal hypoplasia and left mild hydronephrosis; renal function study by means of 99mTc-dimercaptosuccinic acid (DMSA): 89.9% in the left kidney and 10.1% in the right kidney; refractory bilateral clubfoot and motor developmental delays.; retinitis pigmentosa not observed, but there was astigmatism" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "" "" "0000313881" "04212" "00422677" "00000" "Familial, autosomal recessive" "6y" "unexplained linguistic and motor developmental delays; visual impairment due to myopia; obesity (height 127.3 cm, body weight 41.9 kg, and body mass index 25.9 kg/m2); brain magnetic resonance imaging (MRI) normal; blood pressure high (143/ 72 mmHg), serum creatinine and urinary b2MG levels: slightly elevated (0.68 mg/dL and 480 ug/L); renal ultrasonographic examination: only left mild hydronephrosis, the size of both kidneys was normal; no anomalies in his limbs" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "" "" "0000313882" "04214" "00422678" "00000" "Familial, autosomal recessive" "27y" "best corrected visual acuity right, left eye: <6/60, <6/60; refraction right, left eye: +0.50, +0.50; associated anomaly: primary open angle glaucoma (both eyes, diagnosed at the age of 27 y); polydactyly of both hands and feet; fundus findings: bilateral attenuation of retinal vasculature, pale optic disc, bone spicules at the periphery of fundus; optical coherence tomography: fraying of rod and cone photoreceptor layer in the parafoveal area; electroretinogram: rod b waves are extinguished in dark-adapted 0.01 electroretinogram. the dark-adapted 3.0, darkadapted 3.0 oscillatory potential, light-adapted 3.0 and light-adapted 30 hz flicker electroretinograms extinguished rod and cone responses" "2y" "" "" "" "" "" "" "" "retinitis pigmentosa with polydactyly of hands and feet" "" "" "0000313883" "04214" "00422679" "00000" "Familial, autosomal recessive" "27y" "best corrected visual acuity right, left eye: 6/36, 6/60; refraction right, left eye: -1.0D, ���2.0D; associated anomaly: polydactyly of both hands and feet; fundus findings: bilateral attenuation of retinal vasculature, paleness of optic disc, bone spicules at the periphery o" "2y" "" "" "" "" "" "" "" "retinitis pigmentosa with polydactyly of hands and feet" "" "" "0000313884" "04214" "00422680" "00000" "Familial, autosomal recessive" "23y" "best corrected visual acuity right, left eye: 6/36, 6/60; refraction right, left eye: +1.0D, +1.0D; associated anomaly: polydactyly of both hands and feet; fundus findings: bilateral attenuation of retinal vasculature, pale optic disc, bone spicules at the periphery of fundus" "3y" "" "" "" "" "" "" "" "retinitis pigmentosa with polydactyly of hands and feet" "" "" "0000313885" "04212" "00422681" "00000" "Familial, autosomal recessive" "12y" "born by vaginal delivery at forty weeks of gestational age, first child of healthy nonconsanguineous parents family history unremarkable for any genetic conditions; no prenatal abnormalities; no signs of birth asphyxia; weight: 2545 g; length: 49 cm; bilateral postaxial synpolydactyly in the lower limbs; independent walking before the age of one year, but growth retardation was gradually apparent, with her body falling below -2SD of the Japanese standardl; 1y1m: resection of the additional 6th digit in the right foot and the hypoplastic 5th digit in the left foot; speech and cognitive development: normal; 3y: strabismus and amblyopia, diagnosed as early stage of retinitis pigmentosa; athough growth hormone (GH) deficiency had not been confirmed, but she had received GH therapy for being -3SD shorter than the mean since the age of five years; various skeletal malformations at four years of age; facial appearance: dysmorphic with a round face, midface hypoplasia, and micrognathia; malaligned or malformed teand a high-arched palate; physical examination: proportionate short stature with increased lumber lordosis and genu recurvatum in addition to hairiness of the back and hypoplastic digits; full radiographic skeletal survey: mild generalized epiphyseal dysplasia of the long bones and brachydactyly in the hands and feet; 8y: dull pain in the right thigh and limping without a history of trauma; range of motion (ROM) of the right hip: limited in all planes except for flexion.; anteroposterior and frog-leg lateral radiographs of the hip demonstrated sclerosis, loss of height, and subchondral radiolucent zone (ie, crescent sign) in the right proximal femoral epiphysis; magnetic resonance imaging: homogenous hypointensity of the entire capital epiphysis on T1-weighted images and intra-articular joint effusion associated with lateralization of the femoral head on STIR-images, which was compatible with the diagnosis of Legg-Calve-Perthes disease - immediately hospitalized to undergo skin traction of the lower limbs for the purpose of reducing intracapsular synovitis; after the improvement of the ROM of the affected hip, we performed Salter innominate osteotomy with tenotomies of the adductor longus and the iliopsoas, postoperatively, the hip was immobilized in one and one-half hip spica cast for three weeks, followed by aggressive ROM exercises, and partial weight bearing was commenced eight weeks after the surgery; patient gradually became obese during the postoperative rehabilitation period and reached more than 2 SD of the mean value by age of nine years; hip radiographs at the fragmentation period: diminished epiphyseal height of the lateral portion of the femoral head, representing the modified lateral pillar type C hip,7 and metaphyseal cyst formation spanning the growth plate had occurred in the anterolateral portion. 10 months after the surgery, she was allowed full weight bearing following the implant removal; 12y: latest follow-up: ovoid right femoral head with preserved joint congruency, equivalent to Stulberg class 3 intermediate hip; clinically asymptomatic, restoring a full painless ROM of the right hip without apparent gait abnormalities" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "" "" "0000336221" "00198" "00447022" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "" "0000336810" "00198" "00447611" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, simplex" "" ## Screenings ## Do not remove or alter this header ## ## Count = 191 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000060191" "00060204" "1" "00244" "00244" "2013-08-30 14:16:58" "" "" "SEQ-NG-S" "DNA" "" "" "0000166105" "00165229" "1" "02526" "02526" "2018-07-02 20:42:22" "" "" "PCR" "DNA" "" "" "0000277472" "00276325" "1" "03470" "03470" "2020-01-31 08:43:22" "" "" "SEQ-NG-I" "DNA" "Blood" "WES and Sanger" "0000294031" "00292863" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294032" "00292864" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294033" "00292865" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000310784" "00309639" "1" "00006" "00006" "2020-08-30 12:45:21" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000310786" "00309641" "1" "00006" "00006" "2020-08-30 12:49:09" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000310787" "00309642" "1" "00006" "00006" "2020-08-30 12:50:03" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000310788" "00309643" "1" "00006" "00006" "2020-08-30 12:50:48" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000310790" "00309645" "1" "00006" "00006" "2020-08-30 12:53:52" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000319190" "00318008" "1" "00006" "00006" "2020-11-05 17:52:36" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000333410" "00332190" "1" "00000" "00006" "2021-02-15 18:54:26" "" "" "SEQ-NG" "DNA" "" "WES" "0000334590" "00333365" "1" "00000" "00006" "2021-02-25 10:13:46" "" "" "SEQ-NG" "DNA" "" "132-gene panel" "0000335315" "00334089" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" "" "0000335316" "00334090" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" "" "0000360037" "00358807" "1" "00000" "00006" "2021-03-12 18:57:14" "" "" "arrayCGH;PCRlr;SEQ-NG" "DNA" "" "" "0000360201" "00358964" "1" "00000" "00006" "2021-03-18 12:15:00" "" "" "SEQ-NG" "DNA" "" "WES" "0000360209" "00358972" "1" "00000" "00006" "2021-03-18 12:15:00" "" "" "SEQ-NG" "DNA" "" "WES" "0000360214" "00358977" "1" "00000" "00006" "2021-03-18 12:15:00" "" "" "SEQ-NG" "DNA" "" "WES" "0000360217" "00358980" "1" "00000" "00006" "2021-03-18 12:15:00" "" "" "SEQ-NG" "DNA" "" "WES" "0000364875" "00363647" "1" "00000" "00006" "2021-04-29 16:11:05" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000376619" "00375422" "1" "00000" "00006" "2021-06-04 09:36:04" "" "" "SEQ-NG" "DNA" "" "WES" "0000381572" "00380358" "1" "00000" "00008" "2021-08-13 14:56:11" "" "" "SEQ" "DNA" "blood" "" "0000381578" "00380364" "1" "00000" "00008" "2021-08-13 14:56:11" "" "" "SEQ" "DNA" "blood" "" "0000383539" "00382325" "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" "0000383777" "00382563" "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" "0000384110" "00382894" "1" "00000" "00008" "2021-09-13 01:01:20" "" "" "SEQ" "DNA" "" "" "0000384111" "00382895" "1" "00000" "00008" "2021-09-13 01:01:20" "" "" "SEQ" "DNA" "" "" "0000384112" "00382896" "1" "00000" "00008" "2021-09-13 01:01:20" "" "" "SEQ" "DNA" "" "" "0000384114" "00382898" "1" "00000" "00008" "2021-09-13 01:01:20" "" "" "SEQ" "DNA" "" "" "0000384282" "00383058" "1" "00000" "00008" "2021-09-23 02:25:49" "" "" "SEQ" "DNA" "blood" "" "0000384305" "00383081" "1" "00000" "00008" "2021-09-23 02:25:49" "" "" "SEQ" "DNA" "blood" "" "0000384337" "00383113" "1" "00000" "00008" "2021-09-23 02:25:49" "" "" "SEQ" "DNA" "blood" "" "0000384338" "00383114" "1" "00000" "00008" "2021-09-23 02:25:49" "" "" "SEQ" "DNA" "blood" "" "0000384339" "00383115" "1" "00000" "00008" "2021-09-23 02:25:49" "" "" "SEQ" "DNA" "blood" "" "0000384340" "00383116" "1" "00000" "00008" "2021-09-23 02:25:49" "" "" "SEQ" "DNA" "blood" "" "0000384357" "00383133" "1" "00000" "00008" "2021-09-23 02:25:49" "" "" "arraySNP;PCR" "DNA;RNA" "blood" "" "0000384373" "00383149" "1" "00000" "00008" "2021-09-23 02:25:49" "" "" "arraySNP;PCR" "DNA;RNA" "blood" "" "0000384378" "00383154" "1" "00000" "00008" "2021-09-23 02:25:49" "" "" "arraySNP;PCR" "DNA;RNA" "blood" "" "0000384437" "00383213" "1" "00000" "00008" "2021-09-28 01:33:29" "" "" "?" "DNA" "blood" "ASPER microarray" "0000384462" "00383238" "1" "00000" "00008" "2021-09-28 01:33:29" "" "" "SEQ" "DNA" "blood" "ASPER microarray" "0000384463" "00383239" "1" "00000" "00008" "2021-09-28 01:33:29" "" "" "DHPLC;SEQ" "DNA" "blood" "" "0000384464" "00383240" "1" "00000" "00008" "2021-09-28 01:33:29" "" "" "microsat;SEQ" "DNA" "blood" "" "0000384509" "00383285" "1" "00000" "00008" "2021-09-29 07:02:49" "" "" "DHPLC;arraySNP;RT-PCR" "DNA;RNA" "blood" "" "0000384510" "00383286" "1" "00000" "00008" "2021-09-29 07:02:49" "" "" "DHPLC;arraySNP;RT-PCR" "DNA;RNA" "blood" "" "0000384511" "00383287" "1" "00000" "00008" "2021-09-29 07:02:49" "" "" "DHPLC;arraySNP;RT-PCR" "DNA;RNA" "blood" "" "0000384519" "00383295" "1" "00000" "00008" "2021-09-29 07:02:49" "" "" "DHPLC;arraySNP;RT-PCR" "DNA;RNA" "blood" "" "0000384520" "00383296" "1" "00000" "00008" "2021-09-29 07:02:49" "" "" "DHPLC;arraySNP;RT-PCR" "DNA;RNA" "blood" "" "0000384546" "00383322" "1" "00000" "00008" "2021-09-29 07:02:49" "" "" "PE;arraySNP" "DNA" "blood" "" "0000384547" "00383323" "1" "00000" "00008" "2021-09-29 07:02:49" "" "" "PE;arraySNP" "DNA" "blood" "" "0000384554" "00383330" "1" "00000" "00008" "2021-09-29 07:02:49" "" "" "PCR" "DNA" "blood" "" "0000384569" "00383345" "1" "00000" "00008" "2021-09-29 07:02:49" "" "" "PCR;SEQ;HD" "DNA" "blood" "" "0000384570" "00383346" "1" "00000" "00008" "2021-09-29 07:02:49" "" "" "PCR;SEQ;HD" "DNA" "blood" "" "0000384584" "00383360" "1" "00000" "00008" "2021-09-29 07:02:49" "" "" "PCR;SEQ" "DNA" "blood" "" "0000384585" "00383361" "1" "00000" "00008" "2021-09-29 07:02:49" "" "" "PCR;SEQ" "DNA" "blood" "" "0000384586" "00383362" "1" "00000" "00008" "2021-09-29 07:02:49" "" "" "?" "DNA" "" "" "0000384587" "00383363" "1" "00000" "00008" "2021-09-29 07:02:49" "" "" "?" "DNA" "" "" "0000384591" "00383367" "1" "00000" "00008" "2021-09-29 07:02:49" "" "" "?" "DNA" "" "" "0000384593" "00383369" "1" "00000" "00008" "2021-09-29 07:02:49" "" "" "?" "DNA" "" "" "0000384594" "00383370" "1" "00000" "00008" "2021-09-29 07:02:49" "" "" "?" "DNA" "" "" "0000384595" "00383371" "1" "00000" "00008" "2021-09-29 07:02:49" "" "" "?" "DNA" "" "" "0000384598" "00383374" "1" "00000" "00008" "2021-09-29 07:02:49" "" "" "?" "DNA" "" "" "0000384691" "00383466" "1" "00000" "03840" "2021-09-29 11:24:51" "" "" "arraySNP;SEQ" "DNA" "" "" "0000384888" "00383663" "1" "00000" "03840" "2021-09-29 12:18:14" "" "" "SEQ-NG;SEQ" "DNA" "blood;saliva" "panel containing 18 BBS genes" "0000385904" "00384678" "1" "00000" "00008" "2021-10-05 15:28:49" "" "" "SEQ" "DNA" "blood" "" "0000385905" "00384679" "1" "00000" "00008" "2021-10-05 15:28:49" "" "" "SEQ" "DNA" "blood" "" "0000385906" "00384680" "1" "00000" "00008" "2021-10-05 15:28:49" "" "" "SEQ" "DNA" "blood" "" "0000385930" "00384704" "1" "00000" "00008" "2021-10-05 15:28:49" "" "" "SEQ" "DNA" "blood" "" "0000385931" "00384705" "1" "00000" "00008" "2021-10-05 15:28:49" "" "" "SEQ" "DNA" "blood" "" "0000385932" "00384706" "1" "00000" "00008" "2021-10-05 15:28:49" "" "" "SEQ" "DNA" "blood" "" "0000385933" "00384707" "1" "00000" "00008" "2021-10-05 15:28:49" "" "" "SEQ" "DNA" "blood" "" "0000385939" "00384713" "1" "00000" "00008" "2021-10-05 15:28:49" "" "" "SEQ" "DNA" "blood" "" "0000385949" "00384723" "1" "00000" "00008" "2021-10-05 15:28:49" "" "" "SEQ" "DNA" "blood" "" "0000385954" "00384728" "1" "00000" "00008" "2021-10-05 15:28:49" "" "" "SEQ" "DNA" "blood" "" "0000386049" "00384823" "1" "00000" "00008" "2021-10-05 15:28:49" "" "" "arraySNP;SEQ;RT-PCR" "DNA;RNA" "blood" "" "0000386050" "00384824" "1" "00000" "00008" "2021-10-05 15:28:49" "" "" "arraySNP;SEQ;RT-PCR" "DNA;RNA" "blood" "" "0000386053" "00384827" "1" "00000" "00008" "2021-10-05 15:28:49" "" "" "arraySNP;SEQ;RT-PCR" "DNA;RNA" "blood" "" "0000386411" "00385182" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "SEQ" "DNA" "blood" "" "0000386469" "00385240" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "arrayCNV;SEQ" "DNA" "blood" "" "0000386476" "00385247" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "arrayCNV;SEQ" "DNA" "blood" "" "0000386486" "00385257" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "SEQ" "DNA" "" "" "0000386514" "00385285" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "SEQ" "DNA" "" "targeted exon capture strategy" "0000386535" "00385306" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "PCR" "DNA" "" "" "0000386575" "00385346" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "PCR" "DNA" "" "" "0000386576" "00385347" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "PCR" "DNA" "" "" "0000386577" "00385348" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "PCR" "DNA" "" "" "0000386578" "00385349" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "PCR" "DNA" "" "" "0000386590" "00385361" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "PCR" "DNA" "" "" "0000386599" "00385370" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "PCR" "DNA" "" "" "0000386605" "00385376" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "PCR" "DNA" "" "" "0000386812" "00385583" "1" "00000" "00008" "2021-10-13 10:28:12" "" "" "SEQ;HD" "DNA" "" "SEQ or HD" "0000386828" "00385599" "1" "00000" "00008" "2021-10-13 10:28:12" "" "" "SEQ" "DNA" "" "" "0000386829" "00385600" "1" "00000" "00008" "2021-10-13 10:28:12" "" "" "HD" "DNA" "" "" "0000386848" "00385619" "1" "00000" "00008" "2021-10-13 10:28:12" "" "" "arraySNP" "DNA" "" "RD-xip" "0000387176" "00385948" "1" "00000" "00008" "2021-10-19 12:24:34" "" "" "SEQ" "DNA" "blood" "" "0000387177" "00385949" "1" "00000" "00008" "2021-10-19 12:24:34" "" "" "SEQ" "DNA" "blood" "" "0000387178" "00385950" "1" "00000" "00008" "2021-10-19 12:24:34" "" "" "SEQ" "DNA" "blood" "" "0000388670" "00387444" "1" "00000" "00008" "2021-10-29 21:32:58" "" "" "SEQ" "DNA" "blood" "" "0000388701" "00387475" "1" "00000" "00008" "2021-10-29 21:32:58" "" "" "SEQ" "DNA" "blood" "" "0000388702" "00387476" "1" "00000" "00008" "2021-10-29 21:32:58" "" "" "SEQ" "DNA" "blood" "" "0000388814" "00387588" "1" "00000" "00008" "2021-10-29 21:32:58" "" "" "SEQ" "DNA" "blood" "" "0000388815" "00387589" "1" "00000" "00008" "2021-10-29 21:32:58" "" "" "SEQ" "DNA" "blood" "" "0000388819" "00387593" "1" "00000" "00008" "2021-10-29 21:32:58" "" "" "SEQ-NG;PCR" "DNA" "blood" "" "0000389380" "00388141" "1" "00000" "00008" "2021-11-02 00:52:48" "00008" "2021-11-04 08:55:19" "SEQ-NG;SEQ" "DNA" "blood" "whole exome sequencing" "0000389557" "00388316" "1" "00000" "00008" "2021-11-04 08:27:28" "" "" "arraySNP;SEQ" "DNA" "blood" "" "0000389558" "00388317" "1" "00000" "00008" "2021-11-04 08:27:28" "" "" "arraySNP;SEQ" "DNA" "blood" "" "0000389559" "00388318" "1" "00000" "00008" "2021-11-04 08:27:28" "" "" "arraySNP;SEQ" "DNA" "blood" "" "0000392456" "00391214" "1" "00000" "03840" "2021-11-13 19:05:38" "" "" "SEQ-NG-I" "DNA" "blood" "whole exome sequencing" "0000392618" "00391376" "1" "00000" "03840" "2021-11-15 18:02:17" "" "" "SEQ-NG" "DNA" "" "retrospective case note review, targeted gene panel testing" "0000393550" "00392308" "1" "00000" "03840" "2021-11-22 14:12:46" "" "" "SEQ-NG" "DNA" "blood" "whole exome sequencing" "0000393996" "00392749" "1" "00000" "03840" "2021-11-23 18:48:15" "" "" "SEQ-NG-I" "DNA" "blood" "\"\"clinical exome\"\" sequencing" "0000393997" "00392750" "1" "00000" "03840" "2021-11-23 18:48:15" "" "" "SEQ-NG-I" "DNA" "blood" "\"\"clinical exome\"\" sequencing" "0000395603" "00394356" "1" "00000" "03840" "2021-12-01 10:17:04" "" "" "SEQ-NG" "DNA" "" "retrospective analysis" "0000395723" "00394476" "1" "00000" "00008" "2021-12-02 08:42:19" "" "" "SEQ-NG" "DNA" "blood" "" "0000395724" "00394477" "1" "00000" "00008" "2021-12-02 08:42:19" "" "" "SEQ-NG" "DNA" "blood" "" "0000396805" "00395567" "1" "00000" "03840" "2021-12-08 14:12:08" "" "" "?" "DNA" "" "clinical exome sequencing" "0000396812" "00395574" "1" "00000" "03840" "2021-12-08 14:12:08" "" "" "?" "DNA" "" "clinical exome sequencing" "0000396821" "00395583" "1" "00000" "03840" "2021-12-08 14:12:08" "" "" "?" "DNA" "" "clinical exome sequencing" "0000397443" "00388498" "1" "00000" "00008" "2021-11-04 08:27:28" "" "" "SEQ-NG" "DNA" "" "CNV gene panel next-generation sequencing" "0000397824" "00396581" "1" "00000" "00008" "2021-12-16 13:33:12" "" "" "SEQ" "DNA" "" "" "0000397826" "00396583" "1" "00000" "00008" "2021-12-16 13:33:12" "" "" "SEQ" "DNA" "" "" "0000397828" "00396585" "1" "00000" "00008" "2021-12-16 13:33:12" "" "" "SEQ" "DNA" "" "" "0000397830" "00396587" "1" "00000" "00008" "2021-12-16 13:33:12" "" "" "SEQ" "DNA" "" "" "0000408908" "00407656" "1" "00000" "03840" "2022-04-07 15:22:18" "" "" "SEQ-NG-I" "DNA" "" "targeted exome sequencing: 34 genes related to NPHP-RC, Bardet-Biedl syndrome, ARPKD" "0000413756" "00412486" "1" "00000" "03840" "2022-06-29 13:33:34" "" "" "SEQ-NG;SEQ" "DNA" "blood" "whole-exome sequencing" "0000418823" "00417530" "1" "00000" "03840" "2022-09-18 20:43:24" "" "" "arraySNP;SEQ" "DNA" "" "" "0000418824" "00417531" "1" "00000" "03840" "2022-09-18 20:43:24" "" "" "arraySNP;SEQ" "DNA" "" "" "0000418825" "00417532" "1" "00000" "03840" "2022-09-18 20:43:24" "" "" "arraySNP;SEQ" "DNA" "" "" "0000418826" "00417533" "1" "00000" "03840" "2022-09-18 20:43:24" "" "" "arraySNP;SEQ" "DNA" "" "" "0000418827" "00417534" "1" "00000" "03840" "2022-09-18 20:43:24" "" "" "arraySNP;SEQ" "DNA" "" "" "0000419134" "00417839" "1" "00000" "03840" "2022-09-26 12:41:35" "" "" "SEQ" "DNA" "blood" "" "0000419878" "00418583" "1" "00000" "03840" "2022-09-30 13:00:12" "" "" "SEQ" "DNA" "" "" "0000419879" "00418584" "1" "00000" "03840" "2022-09-30 13:00:12" "" "" "SEQ" "DNA" "" "" "0000419880" "00418585" "1" "00000" "03840" "2022-09-30 14:21:01" "" "" "SEQ" "DNA" "" "" "0000419881" "00418586" "1" "00000" "03840" "2022-09-30 14:21:01" "" "" "STR;SEQ" "DNA" "" "" "0000419882" "00418587" "1" "00000" "03840" "2022-09-30 14:21:01" "" "" "SEQ" "DNA" "" "" "0000419883" "00418588" "1" "00000" "03840" "2022-09-30 14:21:01" "" "" "SEQ" "DNA" "" "" "0000419884" "00418589" "1" "00000" "03840" "2022-09-30 14:21:01" "" "" "SEQ" "DNA" "" "" "0000419885" "00418590" "1" "00000" "03840" "2022-09-30 14:21:01" "" "" "SEQ" "DNA" "" "" "0000419901" "00418606" "1" "00000" "03840" "2022-10-01 19:39:36" "" "" "SEQ" "DNA" "" "" "0000419902" "00418607" "1" "00000" "03840" "2022-10-01 19:39:36" "" "" "SEQ" "DNA" "" "" "0000419903" "00418608" "1" "00000" "03840" "2022-10-01 19:39:36" "" "" "SEQ" "DNA" "" "" "0000419904" "00418609" "1" "00000" "03840" "2022-10-01 19:39:36" "" "" "SEQ" "DNA" "" "" "0000419905" "00418610" "1" "00000" "03840" "2022-10-01 19:39:36" "" "" "SEQ" "DNA" "" "" "0000419906" "00418611" "1" "00000" "03840" "2022-10-01 19:39:36" "" "" "SEQ" "DNA" "" "" "0000419907" "00418612" "1" "00000" "03840" "2022-10-01 19:39:36" "" "" "SEQ" "DNA" "" "" "0000419908" "00418613" "1" "00000" "03840" "2022-10-01 19:39:36" "" "" "SEQ" "DNA" "" "" "0000419909" "00418614" "1" "00000" "03840" "2022-10-01 19:39:36" "" "" "SEQ" "DNA" "" "" "0000419910" "00418615" "1" "00000" "03840" "2022-10-01 19:39:36" "" "" "SEQ" "DNA" "" "" "0000419911" "00418616" "1" "00000" "03840" "2022-10-01 19:39:36" "" "" "SEQ" "DNA" "" "" "0000419912" "00418617" "1" "00000" "03840" "2022-10-01 20:41:53" "" "" "SEQ" "DNA" "" "" "0000419913" "00418618" "1" "00000" "03840" "2022-10-01 20:41:53" "" "" "SEQ" "DNA" "" "" "0000419914" "00418619" "1" "00000" "03840" "2022-10-01 20:41:53" "" "" "SEQ" "DNA" "" "" "0000419915" "00418620" "1" "00000" "03840" "2022-10-01 20:41:53" "" "" "SEQ" "DNA" "" "" "0000419916" "00418621" "1" "00000" "03840" "2022-10-01 20:41:53" "" "" "SEQ" "DNA" "" "" "0000419917" "00418622" "1" "00000" "03840" "2022-10-03 10:34:35" "" "" "SSCA;HD" "DNA" "blood" "" "0000419918" "00418623" "1" "00000" "03840" "2022-10-03 10:34:35" "" "" "RFLP" "DNA" "blood" "" "0000419919" "00418624" "1" "00000" "03840" "2022-10-03 10:34:35" "" "" "RFLP" "DNA" "blood" "" "0000419920" "00418625" "1" "00000" "03840" "2022-10-03 10:34:35" "" "" "RFLP" "DNA" "blood" "" "0000419921" "00418626" "1" "00000" "03840" "2022-10-03 10:34:35" "" "" "RFLP" "DNA" "blood" "" "0000419926" "00418631" "1" "00000" "03840" "2022-10-03 11:52:23" "" "" "RFLP" "DNA" "blood" "" "0000419927" "00418632" "1" "00000" "03840" "2022-10-03 11:52:23" "" "" "ASO" "DNA" "blood" "" "0000419928" "00418633" "1" "00000" "03840" "2022-10-03 11:52:23" "" "" "PCR;RFLP" "DNA" "blood" "" "0000419929" "00418634" "1" "00000" "03840" "2022-10-03 11:52:23" "" "" "SEQ" "DNA" "blood" "" "0000419930" "00418635" "1" "00000" "03840" "2022-10-03 11:52:23" "" "" "RFLP" "DNA" "blood" "" "0000419931" "00418636" "1" "00000" "03840" "2022-10-03 11:52:23" "" "" "RFLP" "DNA" "blood" "" "0000419933" "00418638" "1" "00000" "03840" "2022-10-03 13:41:26" "" "" "?" "DNA" "" "" "0000419936" "00418641" "1" "00000" "03840" "2022-10-03 15:19:48" "" "" "SEQ-NG;SEQ" "DNA" "" "targeted gene capture (retinal degeneration genes)" "0000419937" "00418642" "1" "00000" "03840" "2022-10-03 15:19:48" "" "" "SEQ-NG;SEQ" "DNA" "" "targeted gene capture (retinal degeneration genes)" "0000419940" "00418647" "1" "00006" "00006" "2022-10-03 15:31:08" "" "" "SEQ" "DNA" "" "" "0000419961" "00418667" "1" "00006" "00006" "2022-10-03 16:24:08" "" "" "SEQ" "DNA" "" "" "0000419962" "00418668" "1" "00006" "00006" "2022-10-03 16:24:08" "" "" "SEQ" "DNA" "" "" "0000419963" "00418669" "1" "00006" "00006" "2022-10-03 16:24:08" "" "" "SEQ" "DNA" "" "" "0000419964" "00418670" "1" "00006" "00006" "2022-10-03 16:24:08" "" "" "SEQ" "DNA" "" "" "0000419965" "00418671" "1" "00006" "00006" "2022-10-03 16:24:08" "" "" "SEQ" "DNA" "" "" "0000419966" "00418672" "1" "00006" "00006" "2022-10-03 16:24:08" "" "" "SEQ" "DNA" "" "" "0000419967" "00418673" "1" "00006" "00006" "2022-10-03 16:24:08" "" "" "SEQ" "DNA" "" "" "0000419975" "00418680" "1" "00000" "03840" "2022-10-03 17:04:02" "" "" "SEQ-NG;SEQ" "DNA" "" "57 genes associated with Meckel-Gruber syndrome and neuronal migration disorders" "0000419978" "00418683" "1" "00000" "03840" "2022-10-04 12:10:24" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000419979" "00418684" "1" "00000" "03840" "2022-10-04 12:10:24" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000419980" "00418685" "1" "00000" "03840" "2022-10-04 12:10:24" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000419981" "00418686" "1" "00000" "03840" "2022-10-04 12:10:24" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000423987" "00422676" "1" "00000" "03840" "2022-11-10 19:41:57" "" "" "SEQ-NG;SEQ" "DNA" "" "HaloPlex HS Sequencing Panel next-generation sequencing" "0000423988" "00422677" "1" "00000" "03840" "2022-11-10 19:41:57" "" "" "SEQ-NG;SEQ" "DNA" "" "HaloPlex HS Sequencing Panel next-generation sequencing" "0000423989" "00422678" "1" "00000" "03840" "2022-11-10 20:10:52" "" "" "SEQ-NG;SEQ" "DNA" "" "Whole-exome sequencing" "0000423990" "00422679" "1" "00000" "03840" "2022-11-10 20:10:52" "" "" "SEQ-NG;SEQ" "DNA" "" "Whole-exome sequencing" "0000423991" "00422680" "1" "00000" "03840" "2022-11-10 20:10:52" "" "" "SEQ-NG;SEQ" "DNA" "" "Whole-exome sequencing" "0000423992" "00422681" "1" "00000" "03840" "2022-11-10 20:32:26" "" "" "SEQ-NG;SEQ" "DNA" "" "Whole-exome sequencing" "0000448599" "00447022" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS" "0000449188" "00447611" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 220 "{{screeningid}}" "{{geneid}}" "0000060191" "MKKS" "0000166105" "BBIP1" "0000166105" "BBS1" "0000166105" "BBS10" "0000166105" "BBS12" "0000166105" "BBS2" "0000166105" "BBS4" "0000166105" "BBS5" "0000166105" "BBS7" "0000166105" "BBS9" "0000166105" "MKKS" "0000277472" "MKKS" "0000310784" "C8orf37" "0000310784" "CCDC28B" "0000310784" "CEP19" "0000310784" "GLI1" "0000310784" "MKKS" "0000310784" "TMEM67" "0000310786" "C8orf37" "0000310786" "CCDC28B" "0000310786" "CEP19" "0000310786" "GLI1" "0000310786" "MKKS" "0000310786" "TMEM67" "0000310787" "C8orf37" "0000310787" "CCDC28B" "0000310787" "CEP19" "0000310787" "GLI1" "0000310787" "MKKS" "0000310787" "TMEM67" "0000310788" "C8orf37" "0000310788" "CCDC28B" "0000310788" "CEP19" "0000310788" "GLI1" "0000310788" "MKKS" "0000310788" "TMEM67" "0000310790" "C8orf37" "0000310790" "CCDC28B" "0000310790" "CEP19" "0000310790" "GLI1" "0000310790" "MKKS" "0000310790" "TMEM67" "0000319190" "MKKS" "0000335315" "MKKS" "0000335316" "MKKS" "0000360037" "BBS2" "0000360037" "BBS4" "0000360037" "MKKS" "0000364875" "MKKS" "0000381572" "BBS9" "0000381578" "WDPCP" "0000383539" "MKKS" "0000383777" "MKKS" "0000384110" "MKKS" "0000384111" "BBS2" "0000384112" "MKKS" "0000384114" "BBS2" "0000384282" "BBS1" "0000384305" "MKKS" "0000384337" "MKKS" "0000384338" "MKKS" "0000384339" "MKKS" "0000384340" "MKKS" "0000384357" "MKKS" "0000384373" "MKKS" "0000384378" "MKKS" "0000384437" "BBS1" "0000384462" "MKKS" "0000384463" "MKKS" "0000384464" "MKKS" "0000384509" "MKKS" "0000384510" "MKKS" "0000384511" "MKKS" "0000384519" "MKKS" "0000384520" "MKKS" "0000384546" "MKKS" "0000384547" "MKKS" "0000384554" "BBS1" "0000384569" "MKKS" "0000384570" "MKKS" "0000384584" "MKKS" "0000384585" "MKKS" "0000384586" "BBS1" "0000384587" "BBS1" "0000384591" "BBS1" "0000384593" "BBS2" "0000384594" "BBS2" "0000384595" "BBS2" "0000384598" "MKKS" "0000384691" "BBS5" "0000384888" "MKKS" "0000385904" "MKKS" "0000385905" "MKKS" "0000385906" "MKKS" "0000385930" "MKKS" "0000385931" "MKKS" "0000385932" "MKKS" "0000385933" "MKKS" "0000385939" "BBS10" "0000385949" "BBS10" "0000385954" "BBS12" "0000386049" "MKKS" "0000386050" "MKKS" "0000386053" "MKKS" "0000386411" "BBS10" "0000386469" "MKKS" "0000386476" "MKKS" "0000386486" "MKKS" "0000386514" "MKKS" "0000386535" "MKKS" "0000386575" "MKKS" "0000386576" "MKKS" "0000386577" "MKKS" "0000386578" "MKKS" "0000386590" "MKKS" "0000386599" "MKKS" "0000386605" "BBS9" "0000386812" "BBS2" "0000386828" "MKKS" "0000386829" "MKKS" "0000386848" "RP2" "0000387176" "MKKS" "0000387177" "MKKS" "0000387178" "MKKS" "0000388670" "BBS1" "0000388670" "BBS10" "0000388670" "BBS12" "0000388701" "BBS1" "0000388701" "BBS10" "0000388701" "BBS12" "0000388701" "MKKS" "0000388702" "BBS1" "0000388702" "BBS10" "0000388702" "BBS12" "0000388702" "MKKS" "0000388814" "MKKS" "0000388815" "MKKS" "0000388819" "MKKS" "0000389380" "MKKS" "0000389557" "MKKS" "0000389558" "MKKS" "0000389559" "MKKS" "0000392456" "MKKS" "0000392618" "MKKS" "0000393550" "MKKS" "0000393996" "MKKS" "0000393997" "MKKS" "0000395603" "JAG1" "0000395723" "MKKS" "0000395724" "MKKS" "0000396805" "MKKS" "0000396812" "MKKS" "0000396821" "MKKS" "0000397824" "MKKS" "0000397826" "MKKS" "0000397828" "MKKS" "0000397830" "MKKS" "0000408908" "MKKS" "0000413756" "BBS1" "0000418823" "MKKS" "0000418824" "MKKS" "0000418825" "MKKS" "0000418826" "MKKS" "0000418827" "MKKS" "0000419134" "BBS10" "0000419878" "MKKS" "0000419879" "MKKS" "0000419880" "MKKS" "0000419881" "MKKS" "0000419882" "MKKS" "0000419883" "MKKS" "0000419884" "MKKS" "0000419885" "MKKS" "0000419901" "MKKS" "0000419902" "MKKS" "0000419903" "MKKS" "0000419904" "MKKS" "0000419905" "MKKS" "0000419906" "MKKS" "0000419907" "MKKS" "0000419908" "MKKS" "0000419909" "MKKS" "0000419910" "MKKS" "0000419911" "MKKS" "0000419912" "MKKS" "0000419913" "MKKS" "0000419914" "MKKS" "0000419915" "MKKS" "0000419916" "MKKS" "0000419917" "MKKS" "0000419918" "MKKS" "0000419919" "MKKS" "0000419920" "MKKS" "0000419921" "MKKS" "0000419926" "MKKS" "0000419927" "MKKS" "0000419928" "MKKS" "0000419929" "MKKS" "0000419930" "MKKS" "0000419931" "MKKS" "0000419933" "MKKS" "0000419936" "MKKS" "0000419937" "MKKS" "0000419940" "MKKS" "0000419961" "MKKS" "0000419962" "MKKS" "0000419963" "MKKS" "0000419964" "MKKS" "0000419965" "MKKS" "0000419966" "MKKS" "0000419967" "MKKS" "0000419975" "MKKS" "0000419978" "MKKS" "0000419979" "MKKS" "0000419980" "MKKS" "0000419981" "MKKS" "0000423987" "MKKS" "0000423988" "MKKS" "0000423989" "MKKS" "0000423992" "MKKS" ## 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 = 317 "{{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}}" "0000046843" "3" "70" "20" "10393439" "10393439" "subst" "0.00523439" "00705" "MKKS_000016" "g.10393439C>A" "" "{DOI:Lim 2014:10.1016/j.ajhg.2014.09.015}" "" "c.724C>A" "g.10393439G>T" "Germline" "yes" "" "0" "" "" "g.10412791C>A" "" "likely pathogenic" "" "0000046844" "3" "30" "20" "10394096" "10394096" "subst" "0.000606391" "00705" "MKKS_000048" "g.10394096T>C" "" "{DOI:Lim 2014:10.1016/j.ajhg.2014.09.015}" "" "c.67T>C / g.10394096A>G" "" "Germline" "no" "" "0" "" "" "g.10413448T>C" "" "likely benign" "" "0000091162" "11" "70" "20" "10388350" "10388350" "subst" "8.13418E-6" "00244" "MKKS_000047" "g.10388350C>A" "" "{PMID:González-del Pozo 2014:24689075}" "" "" "" "Germline" "yes" "" "0" "" "" "g.10407702C>A" "" "likely pathogenic" "" "0000091163" "21" "70" "20" "10393894" "10393894" "subst" "0" "00244" "MKKS_000046" "g.10393894T>C" "" "{PMID:González-del Pozo 2014:24689075}" "" "" "" "Germline" "yes" "" "0" "" "" "g.10413246T>C" "" "likely pathogenic" "" "0000253941" "0" "10" "20" "10393162" "10393162" "subst" "0.139912" "01943" "MKKS_000059" "g.10393162A>C" "" "" "" "MKKS(NM_018848.3):c.985+16T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10412514A>C" "" "benign" "" "0000255008" "0" "30" "20" "10386252" "10386252" "subst" "6.90838E-5" "01943" "MKKS_000054" "g.10386252A>G" "" "" "" "MKKS(NM_018848.3):c.1356T>C (p.S452=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10405604A>G" "" "likely benign" "" "0000279789" "0" "30" "20" "10389422" "10389422" "subst" "0.0042253" "02330" "MKKS_000015" "g.10389422T>C" "" "" "" "MKKS(NM_018848.3):c.1015A>G (p.I339V), MKKS(NM_170784.2):c.1015A>G (p.(Ile339Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10408774T>C" "" "likely benign" "" "0000279790" "0" "10" "20" "10388360" "10388360" "subst" "4.07222E-6" "02330" "MKKS_000055" "g.10388360C>T" "" "" "" "MKKS(NM_018848.3):c.1176G>A (p.T392=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10407712C>T" "" "benign" "" "0000279791" "0" "10" "20" "10386055" "10386055" "subst" "0.00029245" "02330" "MKKS_000021" "g.10386055C>T" "" "" "" "MKKS(NM_018848.3):c.1553G>A (p.R518H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10405407C>T" "" "benign" "" "0000279792" "0" "10" "20" "10393956" "10393956" "subst" "4.06332E-6" "02330" "MKKS_000065" "g.10393956G>A" "" "" "" "MKKS(NM_018848.3):c.207C>T (p.V69=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10413308G>A" "" "benign" "" "0000279793" "0" "10" "20" "10393439" "10393439" "subst" "0.00523439" "02330" "MKKS_000016" "g.10393439C>A" "" "" "" "MKKS(NM_018848.3):c.724G>T (p.A242S, p.(Ala242Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10412791C>A" "" "benign" "" "0000283683" "0" "70" "20" "10389403" "10389403" "subst" "1.21968E-5" "02329" "MKKS_000013" "g.10389403C>T" "" "" "" "MKKS(NM_018848.3):c.1034G>A (p.G345E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10408755C>T" "" "likely pathogenic" "" "0000286588" "0" "10" "20" "10389422" "10389422" "subst" "0.0042253" "02326" "MKKS_000015" "g.10389422T>C" "" "" "" "MKKS(NM_018848.3):c.1015A>G (p.I339V), MKKS(NM_170784.2):c.1015A>G (p.(Ile339Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10408774T>C" "" "benign" "" "0000286589" "0" "10" "20" "10386146" "10386146" "subst" "0.00266897" "02326" "MKKS_000040" "g.10386146C>T" "" "" "" "MKKS(NM_018848.3):c.1462G>A (p.A488T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10405498C>T" "" "benign" "" "0000286590" "0" "10" "20" "10386059" "10386059" "subst" "0.140368" "02326" "MKKS_000051" "g.10386059G>A" "" "" "" "MKKS(NM_018848.3):c.1549C>T (p.R517C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10405411G>A" "" "benign" "" "0000286591" "0" "30" "20" "10386055" "10386055" "subst" "0.00029245" "02326" "MKKS_000021" "g.10386055C>T" "" "" "" "MKKS(NM_018848.3):c.1553G>A (p.R518H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10405407C>T" "" "likely benign" "" "0000286592" "0" "10" "20" "10386013" "10386013" "subst" "0.139749" "02326" "MKKS_000050" "g.10386013C>A" "" "" "" "MKKS(NM_018848.3):c.1595G>T (p.G532V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10405365C>A" "" "benign" "" "0000286593" "0" "10" "20" "10394147" "10394147" "subst" "0.00100191" "02326" "MKKS_000069" "g.10394147C>T" "" "" "" "MKKS(NM_018848.3):c.16G>A (p.A6T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10413499C>T" "" "benign" "" "0000286594" "0" "30" "20" "10393747" "10393747" "subst" "0.000817671" "02326" "MKKS_000064" "g.10393747C>T" "" "" "" "MKKS(NM_018848.3):c.416G>A (p.R139Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10413099C>T" "" "likely benign" "" "0000286595" "0" "30" "20" "10394096" "10394096" "subst" "0.000606391" "02326" "MKKS_000048" "g.10394096T>C" "" "" "" "MKKS(NM_018848.3):c.67A>G (p.(Arg23Gly), p.R23G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10413448T>C" "" "likely benign" "" "0000286596" "0" "30" "20" "10393439" "10393439" "subst" "0.00523439" "02326" "MKKS_000016" "g.10393439C>A" "" "" "" "MKKS(NM_018848.3):c.724G>T (p.A242S, p.(Ala242Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10412791C>A" "" "likely benign" "" "0000291829" "0" "30" "20" "10394049" "10394049" "subst" "0" "01943" "MKKS_000068" "g.10394049G>A" "" "" "" "MKKS(NM_018848.3):c.114C>T (p.G38=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10413401G>A" "" "likely benign" "" "0000291830" "0" "30" "20" "10389273" "10389273" "subst" "4.87749E-5" "01943" "MKKS_000058" "g.10389273T>C" "" "" "" "MKKS(NM_018848.3):c.1161+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10408625T>C" "" "likely benign" "" "0000291831" "0" "10" "20" "10394046" "10394046" "subst" "0.150563" "01943" "MKKS_000067" "g.10394046G>A" "" "" "" "MKKS(NM_018848.3):c.117C>T (p.P39=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10413398G>A" "" "benign" "" "0000291832" "0" "90" "20" "10386172" "10386172" "subst" "1.2186E-5" "01943" "MKKS_000029" "g.10386172G>C" "" "" "" "MKKS(NM_018848.3):c.1436C>G (p.S479*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10405524G>C" "" "pathogenic" "" "0000291833" "0" "50" "20" "10386163" "10386163" "subst" "8.1244E-6" "01943" "MKKS_000053" "g.10386163G>T" "" "" "" "MKKS(NM_018848.3):c.1445C>A (p.A482E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10405515G>T" "" "VUS" "" "0000291834" "0" "30" "20" "10386082" "10386082" "subst" "8.12381E-6" "01943" "MKKS_000052" "g.10386082T>C" "" "" "" "MKKS(NM_018848.3):c.1526A>G (p.N509S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10405434T>C" "" "likely benign" "" "0000291835" "0" "10" "20" "10386059" "10386059" "subst" "0.140368" "01943" "MKKS_000051" "g.10386059G>A" "" "" "" "MKKS(NM_018848.3):c.1549C>T (p.R517C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10405411G>A" "" "benign" "" "0000291836" "0" "10" "20" "10386013" "10386013" "subst" "0.139749" "01943" "MKKS_000050" "g.10386013C>A" "" "" "" "MKKS(NM_018848.3):c.1595G>T (p.G532V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10405365C>A" "" "benign" "" "0000291837" "0" "50" "20" "10393997" "10393997" "subst" "4.0653E-6" "01943" "MKKS_000066" "g.10393997T>C" "" "" "" "MKKS(NM_018848.3):c.166A>G (p.T56A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10413349T>C" "" "VUS" "" "0000291838" "0" "30" "20" "10385919" "10385919" "subst" "8.1708E-6" "01943" "MKKS_000049" "g.10385919T>C" "" "" "" "MKKS(NM_018848.3):c.1689A>G (p.S563=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10405271T>C" "" "likely benign" "" "0000291839" "0" "50" "20" "10393994" "10393994" "subst" "2.03249E-5" "01943" "MKKS_000006" "g.10393994T>C" "" "" "" "MKKS(NM_018848.3):c.169A>G (p.T57A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10413346T>C" "" "VUS" "" "0000291840" "0" "10" "20" "10393629" "10393629" "subst" "0.139672" "01943" "MKKS_000062" "g.10393629G>A" "" "" "" "MKKS(NM_018848.3):c.534C>T (p.I178=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10412981G>A" "" "benign" "" "0000291841" "0" "50" "20" "10393487" "10393487" "subst" "0" "01943" "MKKS_000061" "g.10393487G>T" "" "" "" "MKKS(NM_018848.3):c.676C>A (p.Q226K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10412839G>T" "" "VUS" "" "0000291842" "0" "30" "20" "10393439" "10393439" "subst" "0.00523439" "01943" "MKKS_000016" "g.10393439C>A" "" "" "" "MKKS(NM_018848.3):c.724G>T (p.A242S, p.(Ala242Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10412791C>A" "" "likely benign" "" "0000339245" "0" "10" "20" "10393629" "10393629" "subst" "0.139672" "02327" "MKKS_000062" "g.10393629G>A" "" "" "" "MKKS(NM_018848.3):c.534C>T (p.I178=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10412981G>A" "" "benign" "" "0000339246" "0" "10" "20" "10394046" "10394046" "subst" "0.150563" "02327" "MKKS_000067" "g.10394046G>A" "" "" "" "MKKS(NM_018848.3):c.117C>T (p.P39=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10413398G>A" "" "benign" "" "0000343043" "0" "10" "20" "10386059" "10386059" "subst" "0.140368" "02327" "MKKS_000051" "g.10386059G>A" "" "" "" "MKKS(NM_018848.3):c.1549C>T (p.R517C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10405411G>A" "" "benign" "" "0000344115" "0" "90" "20" "10386197" "10386200" "del" "0" "02327" "MKKS_000070" "g.10386197_10386200del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10405549_10405552del" "" "pathogenic" "" "0000346147" "0" "10" "20" "10386013" "10386013" "subst" "0.139749" "02327" "MKKS_000050" "g.10386013C>A" "" "" "" "MKKS(NM_018848.3):c.1595G>T (p.G532V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10405365C>A" "" "benign" "" "0000347065" "0" "70" "20" "10393333" "10393333" "subst" "6.09959E-5" "02327" "MKKS_000018" "g.10393333A>G" "" "" "" "MKKS(NM_018848.3):c.830T>C (p.L277P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10412685A>G" "" "likely pathogenic" "" "0000350067" "0" "90" "20" "10394053" "10394053" "subst" "6.50851E-5" "02327" "MKKS_000005" "g.10394053T>C" "" "" "" "MKKS(NM_018848.3):c.110A>G (p.Y37C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10413405T>C" "" "pathogenic" "" "0000370537" "3" "70" "20" "10388304" "10388304" "subst" "0" "02526" "MKKS_000074" "g.10388304C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.10407656C>G" "" "likely pathogenic" "" "0000569007" "0" "70" "20" "10386172" "10386172" "subst" "1.2186E-5" "02327" "MKKS_000029" "g.10386172G>C" "" "" "" "MKKS(NM_018848.3):c.1436C>G (p.S479*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10405524G>C" "" "likely pathogenic" "" "0000569008" "0" "50" "20" "10386314" "10386314" "subst" "4.47369E-5" "02330" "MKKS_000075" "g.10386314T>A" "" "" "" "MKKS(NM_018848.3):c.1294A>T (p.I432F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10405666T>A" "" "VUS" "" "0000569009" "0" "30" "20" "10386314" "10386314" "subst" "4.47369E-5" "02326" "MKKS_000075" "g.10386314T>A" "" "" "" "MKKS(NM_018848.3):c.1294A>T (p.I432F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10405666T>A" "" "likely benign" "" "0000569011" "0" "50" "20" "10389277" "10389277" "subst" "8.12817E-6" "01943" "MKKS_000077" "g.10389277T>C" "" "" "" "MKKS(NM_018848.3):c.1160A>G (p.K387R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10408629T>C" "" "VUS" "" "0000569013" "0" "10" "20" "10389422" "10389422" "subst" "0.0042253" "02327" "MKKS_000015" "g.10389422T>C" "" "" "" "MKKS(NM_018848.3):c.1015A>G (p.I339V), MKKS(NM_170784.2):c.1015A>G (p.(Ile339Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10408774T>C" "" "benign" "" "0000569014" "0" "30" "20" "10393237" "10393237" "subst" "0.000105698" "02330" "MKKS_000078" "g.10393237C>T" "" "" "" "MKKS(NM_018848.3):c.926G>A (p.R309H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10412589C>T" "" "likely benign" "" "0000569015" "0" "30" "20" "10393439" "10393439" "subst" "0.00523439" "01804" "MKKS_000016" "g.10393439C>A" "" "" "" "MKKS(NM_018848.3):c.724G>T (p.A242S, p.(Ala242Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10412791C>A" "" "likely benign" "" "0000569016" "0" "50" "20" "10393439" "10393439" "subst" "0" "02330" "MKKS_000079" "g.10393439C>T" "" "" "" "MKKS(NM_018848.3):c.724G>A (p.A242T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10412791C>T" "" "VUS" "" "0000569017" "0" "30" "20" "10393527" "10393527" "subst" "0" "02330" "MKKS_000080" "g.10393527G>A" "" "" "" "MKKS(NM_018848.3):c.636C>T (p.S212=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10412879G>A" "" "likely benign" "" "0000569018" "0" "50" "20" "10393678" "10393678" "subst" "0" "01943" "MKKS_000081" "g.10393678G>A" "" "" "" "MKKS(NM_018848.3):c.485C>T (p.P162L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10413030G>A" "" "VUS" "" "0000569019" "0" "30" "20" "10393743" "10393743" "subst" "4.06812E-6" "01943" "MKKS_000082" "g.10393743G>A" "" "" "" "MKKS(NM_018848.3):c.420C>T (p.I140=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10413095G>A" "" "likely benign" "" "0000569021" "0" "50" "20" "10393800" "10393800" "subst" "2.03338E-5" "01943" "MKKS_000083" "g.10393800T>G" "" "" "" "MKKS(NM_018848.3):c.363A>C (p.K121N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10413152T>G" "" "VUS" "" "0000569022" "0" "30" "20" "10393827" "10393827" "subst" "4.0659E-6" "01943" "MKKS_000084" "g.10393827T>C" "" "" "" "MKKS(NM_018848.3):c.336A>G (p.T112=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10413179T>C" "" "likely benign" "" "0000569023" "0" "90" "20" "10394053" "10394053" "subst" "6.50851E-5" "02330" "MKKS_000005" "g.10394053T>C" "" "" "" "MKKS(NM_018848.3):c.110A>G (p.Y37C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10413405T>C" "" "pathogenic" "" "0000569024" "0" "90" "20" "10394053" "10394053" "subst" "6.50851E-5" "02326" "MKKS_000005" "g.10394053T>C" "" "" "" "MKKS(NM_018848.3):c.110A>G (p.Y37C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10413405T>C" "" "pathogenic" "" "0000569025" "0" "90" "20" "10394053" "10394053" "subst" "6.50851E-5" "02329" "MKKS_000005" "g.10394053T>C" "" "" "" "MKKS(NM_018848.3):c.110A>G (p.Y37C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10413405T>C" "" "pathogenic" "" "0000617975" "0" "90" "20" "10388294" "10388297" "dup" "0" "01804" "MKKS_000071" "g.10388294_10388297dup" "" "" "" "MKKS(NM_018848.3):c.1239_1242dup (p.(Thr415*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10407646_10407649dup" "" "pathogenic" "" "0000617976" "0" "50" "20" "10388352" "10388352" "subst" "4.06722E-6" "01804" "MKKS_000087" "g.10388352T>C" "" "" "" "MKKS(NM_018848.3):c.1184A>G (p.(His395Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10407704T>C" "" "VUS" "" "0000638714" "3" "90" "20" "10393389" "10393389" "del" "0" "03470" "MKKS_000089" "g.10393389del" "" "" "" "g.21483del" "" "Germline" "" "" "0" "" "" "g.10412741del" "" "pathogenic (recessive)" "" "0000650720" "1" "10" "20" "10393406" "10393406" "subst" "0.000187129" "03575" "MKKS_000060" "g.10393406A>G" "2/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs201785599}" "Germline" "" "rs201785599" "0" "" "" "g.10412758A>G" "" "benign" "" "0000650721" "1" "30" "20" "10393439" "10393439" "subst" "0.00523439" "03575" "MKKS_000016" "g.10393439C>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs74315394}" "Germline" "" "rs74315394" "0" "" "" "g.10412791C>A" "" "likely benign" "" "0000650722" "1" "10" "20" "10393747" "10393747" "subst" "0.000817671" "03575" "MKKS_000064" "g.10393747C>T" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs145045986}" "Germline" "" "rs145045986" "0" "" "" "g.10413099C>T" "" "benign" "" "0000658705" "0" "30" "20" "10386326" "10386326" "subst" "3.66366E-5" "01943" "MKKS_000090" "g.10386326C>T" "" "" "" "MKKS(NM_018848.3):c.1282G>A (p.D428N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10405678C>T" "" "likely benign" "" "0000658706" "0" "30" "20" "10388369" "10388369" "subst" "0.000110208" "02330" "MKKS_000091" "g.10388369C>T" "" "" "" "MKKS(NM_018848.3):c.1167G>A (p.T389=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10407721C>T" "" "likely benign" "" "0000658707" "0" "30" "20" "10389431" "10389431" "subst" "8.13835E-6" "01943" "MKKS_000092" "g.10389431G>C" "" "" "" "MKKS(NM_018848.3):c.1006C>G (p.L336V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10408783G>C" "" "likely benign" "" "0000681553" "0" "70" "20" "10389403" "10389403" "subst" "1.21968E-5" "02327" "MKKS_000013" "g.10389403C>T" "" "" "" "MKKS(NM_018848.3):c.1034G>A (p.G345E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000681554" "0" "30" "20" "10389422" "10389422" "subst" "0.0042253" "01943" "MKKS_000015" "g.10389422T>C" "" "" "" "MKKS(NM_018848.3):c.1015A>G (p.I339V), MKKS(NM_170784.2):c.1015A>G (p.(Ile339Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000685766" "1" "50" "20" "10389422" "10389422" "subst" "0.0042253" "00006" "MKKS_000015" "g.10389422T>C" "" "{PMID:Khan 2016:26854863}" "" "" "" "Germline" "" "rs137853909" "0" "" "" "g.10408774T>C" "" "VUS" "" "0000685778" "1" "50" "20" "10389422" "10389422" "subst" "0.0042253" "00006" "MKKS_000015" "g.10389422T>C" "" "{PMID:Khan 2016:26854863}" "" "" "" "Germline" "" "rs137853909" "0" "" "" "g.10408774T>C" "" "VUS" "" "0000685784" "1" "50" "20" "10389422" "10389422" "subst" "0.0042253" "00006" "MKKS_000015" "g.10389422T>C" "" "{PMID:Khan 2016:26854863}" "" "" "" "Germline" "" "rs137853909" "0" "" "" "g.10408774T>C" "" "VUS" "" "0000685788" "1" "50" "20" "10389422" "10389422" "subst" "0.0042253" "00006" "MKKS_000015" "g.10389422T>C" "" "{PMID:Khan 2016:26854863}" "" "" "" "Germline" "" "rs137853909" "0" "" "" "g.10408774T>C" "" "VUS" "" "0000685795" "1" "50" "20" "10389422" "10389422" "subst" "0.0042253" "00006" "MKKS_000015" "g.10389422T>C" "" "{PMID:Khan 2016:26854863}" "" "" "" "Germline" "" "rs137853909" "0" "" "" "g.10408774T>C" "" "VUS" "" "0000692930" "0" "70" "20" "10393333" "10393333" "subst" "6.09959E-5" "02330" "MKKS_000018" "g.10393333A>G" "" "" "" "MKKS(NM_018848.3):c.830T>C (p.L277P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000692931" "0" "90" "20" "10393432" "10393433" "del" "0" "01943" "MKKS_000073" "g.10393432_10393433del" "" "" "" "MKKS(NM_018848.3):c.732_733delTT (p.F244Lfs*10)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000692932" "0" "30" "20" "10394096" "10394096" "subst" "0.000606391" "01804" "MKKS_000048" "g.10394096T>C" "" "" "" "MKKS(NM_018848.3):c.67A>G (p.(Arg23Gly), p.R23G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000701854" "3" "50" "20" "10393389" "10393389" "del" "0" "00006" "MKKS_000089" "g.10393389del" "" "{PMID:Riazuddin 2017:27457812}" "" "" "" "Germline" "" "" "0" "" "" "g.10412741del" "" "VUS" "" "0000727596" "0" "90" "20" "10393400" "10393400" "dup" "0" "02329" "MKKS_000088" "g.10393400dup" "" "" "" "MKKS(NM_018848.3):c.763dupA (p.T255Nfs*15)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000727597" "0" "50" "20" "10394104" "10394104" "subst" "9.76769E-5" "01943" "MKKS_000093" "g.10394104T>C" "" "" "" "MKKS(NM_018848.3):c.59A>G (p.E20G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000731036" "3" "50" "20" "10389422" "10389422" "subst" "0.0042253" "00000" "MKKS_000015" "g.10389422T>C" "" "{PMID:Bryant 2018:29343940}" "" "" "" "Germline" "" "rs137853909" "0" "" "" "g.10408774T>C" "" "VUS" "" "0000732511" "0" "90" "20" "10393403" "10393403" "subst" "0" "00000" "MKKS_000096" "g.10393403C>A" "" "{PMID:Costa 2017:28912962}" "" "" "" "Germline" "" "" "0" "" "" "g.10412755C>A" "" "pathogenic" "" "0000733324" "1" "70" "20" "10393319" "10393319" "subst" "0" "00000" "MKKS_000095" "g.10393319G>A" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.10412671G>A" "" "likely pathogenic" "" "0000733325" "3" "70" "20" "10394053" "10394053" "subst" "6.50851E-5" "00000" "MKKS_000005" "g.10394053T>C" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.10413405T>C" "" "likely pathogenic" "" "0000733710" "2" "70" "20" "10386176" "10386176" "subst" "0" "00000" "MKKS_000094" "g.10386176A>G" "" "{PMID:Stone 2017:28559085}" "" "c1432T>C" "" "Germline" "" "" "0" "" "" "g.10405528A>G" "" "likely pathogenic" "" "0000759702" "0" "90" "20" "10393439" "10393439" "subst" "0.00523439" "00000" "MKKS_000016" "g.10393439C>A" "" "{PMID:Lindstrand 2016:27486776}" "" "" "dominant-negative" "Germline" "" "" "0" "" "" "g.10412791C>A" "" "pathogenic" "" "0000760031" "0" "50" "20" "10386055" "10386055" "subst" "0.00029245" "00000" "MKKS_000021" "g.10386055C>T" "" "{PMID:Tiwari 2016:27353947}" "" "NM_018848.3:c.1553G>A" "" "Germline" "" "" "0" "" "" "g.10405407C>T" "" "VUS" "" "0000760065" "0" "50" "20" "10389422" "10389422" "subst" "0.0042253" "00000" "MKKS_000015" "g.10389422T>C" "" "{PMID:Tiwari 2016:27353947}" "" "" "" "Germline" "" "" "0" "" "" "g.10408774T>C" "" "VUS" "" "0000760087" "0" "50" "20" "10389422" "10389422" "subst" "0.0042253" "00000" "MKKS_000015" "g.10389422T>C" "" "{PMID:Tiwari 2016:27353947}" "" "NM_018848.3:c.1015A>G" "" "Germline" "" "" "0" "" "" "g.10408774T>C" "" "VUS" "" "0000760099" "0" "50" "20" "10393439" "10393439" "subst" "0.00523439" "00000" "MKKS_000016" "g.10393439C>A" "" "{PMID:Tiwari 2016:27353947}" "" "NM_018848.3:c.724G>T" "" "Germline" "" "" "0" "" "" "g.10412791C>A" "" "VUS" "" "0000765817" "0" "70" "20" "10393868" "10393868" "subst" "4.06448E-6" "00000" "MKKS_000097" "g.10393868A>G" "" "{PMID:Patel 2016:26355662}" "" "" "" "Germline" "" "" "0" "" "" "g.10413220A>G" "" "likely pathogenic" "" "0000788436" "0" "50" "20" "10393406" "10393406" "subst" "0.000187129" "00000" "MKKS_000060" "g.10393406A>G" "" "{PMID:Katagiri 2014:25268133}" "" "T757C" "" "Germline" "" "rs201785599" "0" "" "" "g.10412758A>G" "" "VUS" "" "0000795043" "3" "90" "20" "10388263" "10388263" "subst" "4.06841E-6" "00000" "MKKS_000098" "g.10388263C>T" "" "{PMID:M\'hamdi 2014:23432027}" "" "c.1272 +1G >A" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000795052" "0" "90" "20" "10417543" "10417543" "subst" "0" "00000" "MKKS_000099" "g.10417543G>A" "" "{PMID:M\'hamdi 2014:23432027}" "" "c.-3436C >T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000797694" "0" "70" "20" "10393326" "10393326" "del" "1.62677E-5" "00000" "MKKS_000101" "g.10393326del" "" "{PMID:Jespersgaar 2019:30718709}" "" "MKKS c.890T>C, p.(Ile297Thr), c.837del, p.(Gly280Glufs*4)" "" "Germline" "?" "" "0" "" "" "g.10412678del" "" "likely pathogenic" "ACMG" "0000797695" "0" "50" "20" "10393273" "10393273" "subst" "1.62551E-5" "00000" "MKKS_000100" "g.10393273A>G" "" "{PMID:Jespersgaar 2019:30718709}" "" "MKKS c.890T>C, p.(Ile297Thr), c.837del, p.(Gly280Glufs*4)" "" "Germline" "?" "" "0" "" "" "g.10412625A>G" "" "VUS" "ACMG" "0000798030" "0" "70" "20" "10388294" "10388297" "dup" "0" "00000" "MKKS_000071" "g.10388294_10388297dup" "" "{PMID:Jespersgaar 2019:30718709}" "" "MKKS c.1239_1242dup, p.(Thr415*)" "single heterozygous variant (recessive)" "Germline" "?" "" "0" "" "" "g.10407646_10407649dup" "" "likely pathogenic" "ACMG" "0000798544" "3" "70" "20" "10394053" "10394053" "subst" "6.50851E-5" "00000" "MKKS_000005" "g.10394053T>C" "" "{PMID:Katsanis-2001:11567139}" "" "BBS6:Y37C" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000798547" "0" "70" "20" "0" "0" "" "0" "00000" "DNMT3B_000000" "g.?" "" "{PMID:Katsanis-2001:11567139}" "" "BBS6:C499S" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000798549" "0" "70" "20" "10393439" "10393439" "subst" "0.00523439" "00000" "MKKS_000016" "g.10393439C>A" "" "{PMID:Katsanis-2001:11567139}" "" "BBS6:A242S" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000798554" "0" "70" "20" "0" "0" "" "0" "00000" "DNMT3B_000000" "g.?" "" "{PMID:Katsanis-2001:11567139}" "" "BBS6:Q147X" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000809156" "0" "30" "20" "10386055" "10386055" "subst" "0.00029245" "01943" "MKKS_000021" "g.10386055C>T" "" "" "" "MKKS(NM_018848.3):c.1553G>A (p.R518H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809157" "0" "10" "20" "10394147" "10394147" "subst" "0.00100191" "02330" "MKKS_000069" "g.10394147C>T" "" "" "" "MKKS(NM_018848.3):c.16G>A (p.A6T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000810851" "0" "50" "20" "10386013" "10386013" "subst" "0.139749" "00000" "MKKS_000050" "g.10386013C>A" "0.17" "{PMID:Anasagasti-2013:24416769}" "" "p.Gly532Val" "" "Germline" "yes" "rs1545" "0" "" "" "" "" "VUS" "" "0000810852" "0" "50" "20" "10386059" "10386059" "subst" "0.140368" "00000" "MKKS_000051" "g.10386059G>A" "" "{PMID:Anasagasti-2013:24416769}" "" "p.Arg517Cys" "" "Germline" "yes" "rs1547" "0" "" "" "" "" "VUS" "" "0000810853" "0" "50" "20" "10393205" "10393205" "subst" "0" "00000" "MKKS_000099" "g.10393205T>A" "" "{PMID:Anasagasti-2013:24416769}" "" "g.10393205T>A" "Variant reference (T) does not agree with reference sequence (G)" "Germline" "yes" "" "0" "" "" "" "" "VUS" "" "0000810901" "0" "50" "20" "10386013" "10386013" "subst" "0.139749" "00000" "MKKS_000050" "g.10386013C>A" "0.17" "{PMID:Anasagasti-2013:24416769}" "" "p.Gly532Val" "" "Germline" "yes" "rs1545" "0" "" "" "" "" "VUS" "" "0000810902" "0" "50" "20" "10386059" "10386059" "subst" "0.140368" "00000" "MKKS_000051" "g.10386059G>A" "" "{PMID:Anasagasti-2013:24416769}" "" "p.Arg517Cys" "" "Germline" "yes" "rs1547" "0" "" "" "" "" "VUS" "" "0000810903" "0" "50" "20" "10393205" "10393205" "subst" "0" "00000" "MKKS_000099" "g.10393205T>A" "" "{PMID:Anasagasti-2013:24416769}" "" "g.10393205T>A" "Variant reference (T) does not agree with reference sequence (G)" "Germline" "yes" "" "0" "" "" "" "" "VUS" "" "0000810953" "0" "50" "20" "10393730" "10393734" "delins" "0" "00000" "MKKS_000105" "g.10393730_10393734delinsAA" "" "{PMID:Hichri-2005:15770229}" "" "c.429delCT433delAG" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000810954" "0" "50" "20" "10386172" "10386172" "subst" "1.2186E-5" "00000" "MKKS_000029" "g.10386172G>C" "" "{PMID:Hichri-2005:15770229}" "" "c.1436C>G" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000810955" "0" "50" "20" "10389422" "10389422" "subst" "0.0042253" "00000" "MKKS_000015" "g.10389422T>C" "" "{PMID:Hichri-2005:15770229}" "" "c.1015A>G" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000810956" "0" "90" "20" "10393454" "10393454" "subst" "0" "00000" "MKKS_000103" "g.10393454T>G" "" "{PMID:Hichri-2005:15770229}" "" "c.709A4C" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000810957" "0" "50" "20" "10393454" "10393454" "subst" "4.06669E-6" "00000" "MKKS_000104" "g.10393454T>C" "" "{PMID:Hichri-2005:15770229}" "" "c.709A>G" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000810976" "3" "70" "20" "10393415" "10393415" "subst" "1.62725E-5" "00000" "MKKS_000102" "g.10393415C>T" "" "{PMID:Sathya Priya-2015:24400638}" "" "c.748G>A" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000810992" "3" "70" "20" "10386013" "10386013" "subst" "0.139749" "00000" "MKKS_000050" "g.10386013C>A" "" "{PMID:Sathya Priya-2015:24400638}" "" "c.1595G>T/c.1549C>T" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000810993" "3" "70" "20" "10386059" "10386059" "subst" "0.140368" "00000" "MKKS_000051" "g.10386059G>A" "" "{PMID:Sathya Priya-2015:24400638}" "" "c.1595G>T/c.1549C>T" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000810998" "3" "70" "20" "10386013" "10386013" "subst" "0.139749" "00000" "MKKS_000050" "g.10386013C>A" "" "{PMID:Sathya Priya-2015:24400638}" "" "c.1595G>T/c.1549C>T" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000810999" "3" "70" "20" "10386059" "10386059" "subst" "0.140368" "00000" "MKKS_000051" "g.10386059G>A" "" "{PMID:Sathya Priya-2015:24400638}" "" "c.1595G>T/c.1549C>T" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000811087" "0" "70" "20" "10393994" "10393994" "subst" "2.03249E-5" "00000" "MKKS_000006" "g.10393994T>C" "" "{PMID:Muller-2010:20177705}, Katsanis 2000" "" "BBS6:c.169A>G" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000811122" "0" "70" "20" "10394053" "10394053" "subst" "6.50851E-5" "00000" "MKKS_000005" "g.10394053T>C" "" "{PMID:Muller-2010:20177705}, Stone 2000" "" "BBS6:c.110A>G" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000811123" "1" "70" "20" "10394053" "10394053" "subst" "6.50851E-5" "00000" "MKKS_000005" "g.10394053T>C" "" "{PMID:Muller-2010:20177705}, Stone 2000" "" "BBS6:c.110A>G" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000811124" "2" "90" "20" "10393273" "10393273" "subst" "1.62551E-5" "00000" "MKKS_000100" "g.10393273A>G" "" "{PMID:Muller-2010:20177705}" "" "BBS6:c.890T>C" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000811125" "3" "90" "20" "10385960" "10385960" "subst" "0" "00000" "MKKS_000106" "g.10385960G>A" "" "{PMID:Muller-2010:20177705}" "" "BBS6:c.1648C>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000811206" "3" "30" "20" "10389422" "10389422" "subst" "0.0042253" "00000" "MKKS_000015" "g.10389422T>C" "" "{PMID:Duelund Hjortshoj-2010:20120035}" "" "BBS6: c.1015A>G" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000811208" "0" "30" "20" "10393439" "10393439" "subst" "0.00523439" "00000" "MKKS_000016" "g.10393439C>A" "" "{PMID:Duelund Hjortshoj-2010:20120035}" "" "BBS6: c.72>G>T" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000811211" "0" "90" "20" "10393326" "10393326" "del" "1.62677E-5" "00000" "MKKS_000101" "g.10393326del" "" "{PMID:Duelund Hjortshoj-2010:20120035}" "" "c.837delA (p.Gly280GlufsX4)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000811221" "3" "30" "20" "10393439" "10393439" "subst" "0.00523439" "00000" "MKKS_000016" "g.10393439C>A" "" "{PMID:Duelund Hjortshoj-2010:20120035}" "" "BBS6: c.72>G>T" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000811223" "0" "30" "20" "10393439" "10393439" "subst" "0.00523439" "00000" "MKKS_000016" "g.10393439C>A" "" "{PMID:Duelund Hjortshoj-2010:20120035}" "" "BBS6: c.72>G>T" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000811258" "3" "90" "20" "10393415" "10393415" "subst" "1.62725E-5" "00000" "MKKS_000102" "g.10393415C>T" "0/100 ethnically matched control chromosomes." "{PMID:Pereiro-2010:20142850}" "" "BBS6:p.G250R (c.748G>A)" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000811259" "3" "90" "20" "10386247" "10386247" "subst" "0" "00000" "MKKS_000110" "g.10386247A>G" "0/100 ethnically matched control chromosomes." "{PMID:Pereiro-2010:20142850}" "" "BBS6:p.L454P (c.1361T>C)" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000811269" "10" "70" "20" "10393190" "10393190" "subst" "0" "00000" "MKKS_000113" "g.10393190T>G" "" "{PMID:Badano-2003:12837689}" "" "BBS6:T325P" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000811287" "0" "90" "20" "10394046" "10394046" "subst" "0.150563" "00000" "MKKS_000067" "g.10394046G>A" "" "{PMID:Hoskins-2003:12872256}" "" "BBS6:c.117C>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000811288" "0" "90" "20" "10393145" "10393145" "subst" "0.253171" "00000" "MKKS_000112" "g.10393145C>G" "" "{PMID:Hoskins-2003:12872256}" "" "BBS6:c.985+33G>C" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000811308" "3" "90" "20" "10393622" "10393622" "subst" "0" "00000" "MKKS_000115" "g.10393622C>G" "" "{PMID:Fauser-2003:12920096}" "" "541G>C" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000811309" "3" "90" "20" "10393622" "10393622" "subst" "0" "00000" "MKKS_000115" "g.10393622C>G" "" "{PMID:Fauser-2003:12920096}" "" "541G>C" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000811310" "3" "90" "20" "10386134" "10386134" "subst" "0.000300596" "00000" "MKKS_000108" "g.10386134C>T" "" "{PMID:Fauser-2003:12920096}" "" "147>G>A" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000811313" "0" "70" "20" "10393457" "10393457" "subst" "0" "00000" "MKKS_000114" "g.10393457A>G" "" "{PMID:Eichers-2009:15224652}, Beales 2003" "" "BBS6:S236P" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000811316" "0" "70" "20" "10393190" "10393190" "subst" "0" "00000" "MKKS_000113" "g.10393190T>G" "" "{PMID:Eichers-2009:15224652}, Beales 2003" "" "BBS6:T325P" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000811322" "0" "70" "20" "10386194" "10386194" "subst" "8.1242E-6" "00000" "MKKS_000109" "g.10386194T>C" "" "{PMID:Eichers-2009:15224652}, Beales 2003" "" "BBS6:M472V" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000811328" "0" "70" "20" "0" "0" "" "0" "00000" "DNMT3B_000000" "g.?" "" "{PMID:Eichers-2009:15224652}, Katsanis 2001" "" "BBS6:Q147X" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000811331" "0" "70" "20" "10386112" "10386112" "subst" "0" "00000" "MKKS_000107" "g.10386112C>G" "" "{PMID:Eichers-2009:15224652}, Katsanis 2001" "" "BBS6:C499S" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000811333" "0" "70" "20" "10393439" "10393439" "subst" "0.00523439" "00000" "MKKS_000016" "g.10393439C>A" "" "{PMID:Eichers-2009:15224652}, Katsanis 2001" "" "BBS6:A242S" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000811339" "3" "70" "20" "10394053" "10394053" "subst" "6.50851E-5" "00000" "MKKS_000005" "g.10394053T>C" "" "{PMID:Eichers-2009:15224652}, Katsanis 2002" "" "BBS6:Y37C" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000811456" "3" "70" "20" "10388304" "10388304" "subst" "0" "00000" "MKKS_000074" "g.10388304C>G" "" "{PMID:Castro-Sanchez 2019:31506453}" "" "c.1232G>C/p.(G411A)" "homozygous" "Germline" "yes" "" "0" "" "" "g.10407656C>G" "" "likely pathogenic" "" "0000811707" "3" "70" "20" "10388301" "10388301" "subst" "0" "00000" "MKKS_000111" "g.10388301C>A" "" "{PMID:Manara 2019:31196119}" "" "BBS6 c.1235G>T, p.(Cys412Phe)" "homozygous" "Germline" "yes" "" "0" "" "" "g.10407653C>A" "" "likely pathogenic" "ACMG" "0000813071" "0" "70" "20" "10394053" "10394053" "subst" "6.50851E-5" "00000" "MKKS_000005" "g.10394053T>C" "" "{PMID:Feuillan-2011:21209035}" "" "BBS6:c.110A>G" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000813072" "0" "70" "20" "10393783" "10393783" "del" "0" "00000" "MKKS_000121" "g.10393783del" "" "{PMID:Feuillan-2011:21209035}" "" "BBS6:c.380delG" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000813073" "0" "70" "20" "10394053" "10394053" "subst" "6.50851E-5" "00000" "MKKS_000005" "g.10394053T>C" "" "{PMID:Feuillan-2011:21209035}" "" "BBS6:c.110A>G" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000813074" "0" "70" "20" "10388310" "10388311" "del" "0" "00000" "MKKS_000116" "g.10388310_10388311del" "" "{PMID:Feuillan-2011:21209035}" "" "BBS6:c.1225_1226delGG" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000813075" "3" "70" "20" "10394053" "10394053" "subst" "6.50851E-5" "00000" "MKKS_000005" "g.10394053T>C" "" "{PMID:Feuillan-2011:21209035}" "" "BBS6:c.110A>G" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000813112" "3" "90" "20" "10393868" "10393868" "subst" "4.06448E-6" "00000" "MKKS_000097" "g.10393868A>G" "" "{PMID:Billingsley-2010:20472660}" "" "[C99R]+[C99R]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000813113" "3" "90" "20" "0" "0" "" "0" "00000" "DNMT3B_000000" "g.?" "" "{PMID:Billingsley-2010:20472660}" "" "[F94SfsX9]+[F94SfsX9]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000813114" "3" "90" "20" "10394042" "10394042" "subst" "3.66092E-5" "00000" "MKKS_000122" "g.10394042C>G" "" "{PMID:Billingsley-2010:20472660}" "" "[G41R]+[G41R]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000813115" "3" "90" "20" "10393267" "10393267" "subst" "4.06428E-6" "00000" "MKKS_000117" "g.10393267G>A" "" "{PMID:Billingsley-2010:20472660}" "" "[P299L]+[P299L]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000813128" "0" "50" "20" "10393439" "10393439" "subst" "0.00523439" "00000" "MKKS_000016" "g.10393439C>A" "" "{PMID:Billingsley-2010:20472660}" "" "[A242S]+[=]" "normal 2nd chromosome" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000813148" "0" "50" "20" "10393439" "10393439" "subst" "0.00523439" "00000" "MKKS_000016" "g.10393439C>A" "" "{PMID:Billingsley-2010:20472660}" "" "[A242S]+[=]" "normal 2nd chromosome" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000813159" "0" "50" "20" "10386146" "10386146" "subst" "0.00266897" "00000" "MKKS_000040" "g.10386146C>T" "" "{PMID:Billingsley-2010:20472660}" "" "[A488T]+[=]" "normal 2nd chromosome" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000813289" "3" "70" "20" "10393292" "10393292" "subst" "0" "00000" "MKKS_000118" "g.10393292C>A" "0/96 ethnically matched controls" "{PMID:Abu-Safieh-2012:22353939}" "" "c.871G>T p.(V291F)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000813292" "3" "70" "20" "10393292" "10393292" "subst" "0" "00000" "MKKS_000118" "g.10393292C>A" "0/96 ethnically matched controls" "{PMID:Abu-Safieh-2012:22353939}" "" "c.871G>T p.(V291F)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000813298" "3" "70" "20" "10394047" "10394047" "subst" "4.06779E-6" "00000" "MKKS_000123" "g.10394047G>A" "0/96 ethnically matched controls" "{PMID:Abu-Safieh-2012:22353939}" "" "c.116C>T p.(P39L)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000813916" "0" "30" "20" "10393237" "10393237" "subst" "0.000105698" "00000" "MKKS_000078" "g.10393237C>T" "" "{PMID:Chen-2011:21642631}" "" "c.926G>A" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000814002" "0" "50" "20" "10393439" "10393439" "subst" "0.00523439" "00000" "MKKS_000016" "g.10393439C>A" "" "{PMID:Redin-2012:22773737}" "" "c.[724G>T];[=]" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000814014" "3" "90" "20" "10388263" "10388263" "subst" "4.06841E-6" "00000" "MKKS_000098" "g.10388263C>T" "" "{PMID:Redin-2012:22773737}" "" "c.[1272+1G>A];[1272+1G>A]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000814030" "0" "70" "20" "10394053" "10394053" "subst" "6.50851E-5" "00000" "MKKS_000005" "g.10394053T>C" "" "{PMID:Schaefer-2011:21044901}" "" "c.110A>G" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000814031" "0" "70" "20" "10393273" "10393273" "subst" "1.62551E-5" "00000" "MKKS_000100" "g.10393273A>G" "" "{PMID:Schaefer-2011:21044901}" "" "c.890T>C" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000814061" "3" "90" "20" "10388263" "10388263" "subst" "4.06841E-6" "00000" "MKKS_000098" "g.10388263C>T" "" "{PMID:M\'hamdi-2014:23432027}" "" "c.1272+1G>A" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000814073" "0" "50" "20" "10417543" "10417543" "subst" "0" "00000" "MKKS_000099" "g.10417543G>A" "" "{PMID:M\'hamdi-2014:23432027}" "" "BBS6: c.-3436C>T" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000814102" "0" "50" "20" "10393734" "10393734" "del" "0" "00000" "MKKS_000120" "g.10393734delAG" "" "{PMID:Imhoff-2011:20876674}" "" "[p.G119S; p.Y263H]" "normal 2nd chromosome" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000814103" "0" "70" "20" "10393730" "10393730" "del" "0" "00000" "MKKS_000119" "g.10393730delCT" "" "{PMID:Imhoff-2011:20876674}" "" "[p.L55P];[p.E274VfsX29]" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000814170" "2" "70" "20" "10393868" "10393868" "subst" "4.06448E-6" "00000" "MKKS_000097" "g.10393868A>G" "" "{PMID:Deveault-2011:21344540}" "" "[c.197+1G>T];[p.L600S]" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000814171" "2" "70" "20" "0" "0" "" "0" "00000" "DNMT3B_000000" "g.?" "" "{PMID:Deveault-2011:21344540}" "" "[p.T501M];[p.R525H]" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000814172" "2" "70" "20" "10394042" "10394042" "subst" "3.66092E-5" "00000" "MKKS_000122" "g.10394042C>G" "" "{PMID:Deveault-2011:21344540}" "" "[p.G539D];[p.P632FfsX7]" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000814173" "2" "70" "20" "10393267" "10393267" "subst" "4.06428E-6" "00000" "MKKS_000117" "g.10393267G>A" "" "{PMID:Deveault-2011:21344540}" "" "[p.L88R];[p.N461KfsX10]" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000814195" "3" "70" "20" "10393439" "10393439" "subst" "0.00523439" "00000" "MKKS_000016" "g.10393439C>A" "" "{PMID:Deveault-2011:21344540}" "" "[p.M1V];[p.M1V]" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000814214" "3" "70" "20" "10393439" "10393439" "subst" "0.00523439" "00000" "MKKS_000016" "g.10393439C>A" "" "{PMID:Deveault-2011:21344540}" "" "[p.G41R];[p.G41R]" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000814229" "3" "70" "20" "10386146" "10386146" "subst" "0.00266897" "00000" "MKKS_000040" "g.10386146C>T" "" "{PMID:Deveault-2011:21344540}" "" "[p.D480MfsX3];[p.D480MfsX3]" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000814564" "0" "50" "20" "10386314" "10386314" "subst" "4.47369E-5" "00000" "MKKS_000075" "g.10386314T>A" "0.017" "{PMID:Janssen-2011:21052717}" "" "c.1294A>T(h)" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000814583" "0" "70" "20" "10393439" "10393439" "subst" "0.00523439" "00000" "MKKS_000016" "g.10393439C>A" "1.7% ; absent in 96 controls" "{PMID:Janssen-2011:21052717}" "" "c.724G>T(h)" "unknown variant 2nd chromosome" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000814584" "0" "70" "20" "10393439" "10393439" "subst" "0.00523439" "00000" "MKKS_000016" "g.10393439C>A" "3.4% ; absent in 96 controls" "{PMID:Janssen-2011:21052717}" "" "c.724G>T(h)" "unknown variant 2nd chromosome" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000814626" "3" "90" "20" "10386112" "10386112" "subst" "0" "00000" "MKKS_000124" "g.10386112C>T" "" "{PMID:Xing-2014:24608809}" "" "c.1496G>A" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000815051" "20" "90" "20" "10393894" "10393894" "subst" "0" "00000" "MKKS_000046" "g.10393894T>C" "" "{PMID:Gonzalez del Pozo 2013:24689075}" "" "c.269A>G; p.D90G" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000815052" "10" "90" "20" "10388350" "10388350" "subst" "8.13418E-6" "00000" "MKKS_000047" "g.10388350C>A" "" "{PMID:Gonzalez del Pozo 2013:24689075}" "" "c.1186G>T; p.V396F" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000815053" "20" "90" "20" "10393894" "10393894" "subst" "0" "00000" "MKKS_000046" "g.10393894T>C" "" "{PMID:Gonzalez del Pozo 2013:24689075}" "" "c.269A>G; p.D90G" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000815054" "10" "90" "20" "10388350" "10388350" "subst" "8.13418E-6" "00000" "MKKS_000047" "g.10388350C>A" "" "{PMID:Gonzalez del Pozo 2013:24689075}" "" "c.1186G>T; p.V396F" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000815056" "20" "90" "20" "10393894" "10393894" "subst" "0" "00000" "MKKS_000046" "g.10393894T>C" "" "{PMID:Gonzalez del Pozo 2013:24689075}" "" "c.269A>G; p.D90G" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000815057" "10" "90" "20" "10388350" "10388350" "subst" "8.13418E-6" "00000" "MKKS_000047" "g.10388350C>A" "" "{PMID:Gonzalez del Pozo 2013:24689075}" "" "c.1186G>T; p.V396F" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000817398" "0" "70" "20" "10393439" "10393439" "subst" "0.00523439" "00000" "MKKS_000016" "g.10393439C>A" "" "{PMID:Castro Sanchez 2015:26082521}" "" "p.(Ala242Ser)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000817443" "3" "70" "20" "10393415" "10393415" "subst" "0" "00000" "MKKS_000126" "g.10393415C>G" "" "{PMID:Castro Sanchez 2015:26082521}" "" "p.(Gly250Arg)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000817444" "3" "70" "20" "10386247" "10386247" "subst" "0" "00000" "MKKS_000110" "g.10386247A>G" "" "{PMID:Castro Sanchez 2015:26082521}" "" "p.(Leu454Pro)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000817572" "0" "50" "20" "10394160" "10394160" "subst" "0" "00000" "MKKS_000127" "g.10394160C>A" "" "{PMID:Scheidecker 2015:25982971}" "" "BBS6:p.[M1I];[Y37C]" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000817573" "0" "50" "20" "10394053" "10394053" "subst" "6.50851E-5" "00000" "MKKS_000005" "g.10394053T>C" "" "{PMID:Scheidecker 2015:25982971}" "" "BBS6:p.[M1I];[Y37C]" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000817577" "3" "70" "20" "10389452" "10389452" "subst" "8.19048E-6" "00000" "MKKS_000125" "g.10389452C>T" "" "{PMID:Yamamura 2018:26968886}" "" "c.986-1G>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000818392" "0" "70" "20" "10388361" "10388361" "subst" "2.03631E-5" "00000" "MKKS_000129" "g.10388361G>A" "" "{PMID:Qi_2017:28624958}" "" "c.1175C>T" "" "Germline" "" "rs201183584" "0" "" "" "" "" "likely pathogenic" "" "0000818393" "0" "90" "20" "10388344" "10388344" "subst" "0" "00000" "MKKS_000128" "g.10388344G>A" "" "{PMID:Qi_2017:28624958}" "" "c.1192C>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000818652" "3" "90" "20" "10394044" "10394044" "subst" "1.2202E-5" "00000" "MKKS_000130" "g.10394044G>C" "" "{PMID:Ullah-2017:28761321}" "" "c.119C>G" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000818653" "3" "90" "20" "10394044" "10394044" "subst" "1.2202E-5" "00000" "MKKS_000130" "g.10394044G>C" "" "{PMID:Ullah-2017:28761321}" "" "c.119C>G" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000818654" "3" "90" "20" "10394044" "10394044" "subst" "1.2202E-5" "00000" "MKKS_000130" "g.10394044G>C" "" "{PMID:Ullah-2017:28761321}" "" "c.119C>G" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000822756" "3" "90" "20" "10393389" "10393389" "del" "0" "00000" "MKKS_000089" "g.10393389del" "" "{PMID:Gumus 2021:32686083}" "" "MKKS (NM_170784) (LOVD #0000638714), c.775del, p.(Thr259Leufs*21), Frameshift" "homozygous" "Germline" "?" "" "0" "" "" "g.10412741del" "" "pathogenic" "" "0000822961" "3" "70" "20" "10393868" "10393868" "subst" "4.06448E-6" "00000" "MKKS_000097" "g.10393868A>G" "" "{PMID:Méjécase 2020:32783370}" "" "MKKS c.29ST >C p.(Cys99Arg)" "homozygous" "Unknown" "?" "" "0" "" "" "g.10413220A>G" "" "likely pathogenic" "" "0000824323" "3" "70" "20" "10393415" "10393415" "subst" "1.62725E-5" "00000" "MKKS_000102" "g.10393415C>T" "" "{PMID:Huang 2021:33520300}" "" "MKKS c.748G>A, p.(G250R)" "homozygous" "Germline" "yes" "" "0" "" "" "g.10412767C>T" "" "likely pathogenic" "" "0000824889" "3" "70" "20" "10388301" "10388301" "subst" "0" "00000" "MKKS_000131" "g.10388301C>G" "" "{PMID:Beigi 2021:33741323}" "" "MKKS c.1235G > C, p.(Cys412Ser)" "homozygous; probably two mutations contribute to more severe phenotype" "Germline" "yes" "" "0" "" "" "g.10407653C>G" "" "likely pathogenic" "" "0000824890" "3" "70" "20" "10388301" "10388301" "subst" "0" "00000" "MKKS_000131" "g.10388301C>G" "" "{PMID:Beigi 2021:33741323}" "" "MKKS c.1235G > C, p.(Cys412Ser)" "homozygous; probably only one mutation contribute to milder phenotype" "Germline" "yes" "" "0" "" "" "g.10407653C>G" "" "likely pathogenic" "" "0000826991" "0" "90" "20" "9200001" "17900000" "del" "0" "00000" "JAG1_000783" "g.9200001_17900000del" "" "{PMID:Thorsteinsson 2021:33851411}" "" "JAG1 del20p12.1-p12.2," "heterozygous" "Unknown" "?" "" "0" "" "" "g.9200001_17900000del" "" "pathogenic" "" "0000827121" "0" "90" "20" "10393567" "10393568" "del" "0" "00000" "MKKS_000132" "g.10393567_10393568del" "" "{PMID:Jeziorny-2020:33138063}" "" "BBS6:c.595_596delAG" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000827122" "0" "90" "20" "10386172" "10386172" "subst" "1.2186E-5" "00000" "MKKS_000029" "g.10386172G>C" "" "{PMID:Jeziorny-2020:33138063}" "" "BBS6:c.1436C>G" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000827123" "0" "90" "20" "10393567" "10393568" "del" "0" "00000" "MKKS_000132" "g.10393567_10393568del" "" "{PMID:Jeziorny-2020:33138063}" "" "BBS6:c.595_596delAG" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000827124" "0" "90" "20" "10386172" "10386172" "subst" "1.2186E-5" "00000" "MKKS_000029" "g.10386172G>C" "" "{PMID:Jeziorny-2020:33138063}" "" "BBS6:c.1436C>G" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000828484" "3" "90" "20" "10393415" "10393415" "subst" "1.62725E-5" "00000" "MKKS_000102" "g.10393415C>T" "" "{PMID:Perea-Romero 2021:34448047}" "" "MKKS, c.748G>A, p.Gly250Arg, homozygous" "" "Germline" "yes" "" "0" "" "" "g.10412767C>T" "" "pathogenic" "ACMG" "0000828494" "3" "70" "20" "10386078" "10386078" "subst" "4.062E-6" "00000" "MKKS_000133" "g.10386078C>T" "" "{PMID:Perea-Romero 2021:34448047}" "" "MKKS, c.1530G>A, p.Trp510*, homozygous" "" "Germline" "yes" "" "0" "" "" "g.10405430C>T" "" "likely pathogenic" "ACMG" "0000828507" "3" "70" "20" "10393729" "10393732" "del" "0" "00000" "MKKS_000134" "g.10393729_10393732del" "" "{PMID:Perea-Romero 2021:34448047}" "" "MKKS, c.432_435delTAGT, p.Phe144Leufs*14, homozygous" "" "Unknown" "?" "" "0" "" "" "g.10413081_10413084del" "" "likely pathogenic" "ACMG" "0000829417" "0" "50" "20" "2639084" "10394167" "del" "0" "00000" "MKKS_000000" "g.(?_2639084)_(10394167_?)del" "" "{PMID:Ellingsford 2018:29074561}" "" "chr20:2639084-10394167" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000830034" "1" "90" "20" "10393371" "10393371" "subst" "0" "00000" "MKKS_000136" "g.10393371A>C" "" "{PMID:Mary-2019:30614526}" "" "BBS6:c.[792T>G];[792T>G]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000830035" "2" "90" "20" "10393371" "10393371" "subst" "0" "00000" "MKKS_000136" "g.10393371A>C" "" "{PMID:Mary-2019:30614526}" "" "BBS6:c.[792T>G];[792T>G]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000830036" "1" "90" "20" "10393868" "10393868" "subst" "4.06448E-6" "00000" "MKKS_000097" "g.10393868A>G" "" "{PMID:Mary-2019:30614526}" "" "BBS6:c.[295T>C];[492T>A]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000830037" "2" "90" "20" "10393671" "10393671" "subst" "0" "00000" "MKKS_000137" "g.10393671A>T" "" "{PMID:Mary-2019:30614526}" "" "BBS6:c.[295T>C];[492T>A]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000830038" "1" "90" "20" "10388294" "10388297" "dup" "0" "00000" "MKKS_000071" "g.10388294_10388297dup" "" "{PMID:Mary-2019:30614526}" "" "BBS6:c.[1239_1242dup];[1478del]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000830039" "2" "90" "20" "10386130" "10386130" "del" "0" "00000" "MKKS_000135" "g.10386130del" "" "{PMID:Mary-2019:30614526}" "" "BBS6:c.[1239_1242dup];[1478del]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000830040" "1" "90" "20" "10388294" "10388297" "dup" "0" "00000" "MKKS_000071" "g.10388294_10388297dup" "" "{PMID:Mary-2019:30614526}" "" "BBS6:c.[1239_1242dup];[1478del]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000830041" "2" "90" "20" "10386130" "10386130" "del" "0" "00000" "MKKS_000135" "g.10386130del" "" "{PMID:Mary-2019:30614526}" "" "BBS6:c.[1239_1242dup];[1478del]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000845917" "0" "70" "20" "10393747" "10393747" "subst" "0.000817671" "00000" "MKKS_000064" "g.10393747C>T" "" "{PMID:Kang 2016:27491411}" "" "MKKS/BBS6 c.416G>A, p.Arg139Gln" "single heterozygous variant in a recessive disease; no second causative allele found" "Unknown" "?" "" "0" "" "" "g.10413099C>T" "" "likely pathogenic" "" "0000855752" "0" "50" "20" "10393200" "10393200" "subst" "0" "01943" "MKKS_000139" "g.10393200C>T" "" "" "" "MKKS(NM_018848.3):c.963G>A (p.M321I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000855753" "0" "30" "20" "10394599" "10394599" "dup" "0" "02326" "MKKS_000140" "g.10394599dup" "" "" "" "MKKS(NM_018848.3):c.-417-13dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866378" "0" "50" "20" "10389271" "10389271" "subst" "0" "01943" "MKKS_000138" "g.10389271C>T" "" "" "" "MKKS(NM_018848.3):c.1161+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000866379" "0" "30" "20" "10412326" "10412326" "subst" "0" "02326" "MKKS_000141" "g.10412326A>C" "" "" "" "MKKS(NM_018848.3):c.-649+6T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000871295" "0" "70" "11" "10393721" "10393721" "subst" "0" "00000" "MKKS_000001" "g.10393721G>A" "" "{PMID:Delvallee 2021:33169370}" "" "MKKS c.442C>T, p.(Gln148*)" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.10413073G>A" "" "pathogenic (recessive)" "" "0000878690" "3" "70" "20" "10385962" "10385962" "subst" "0" "00000" "MKKS_000142" "g.10385962A>G" "" "{PMID:Aldahmesh 2014:24488770}" "" "MKKS c.1646T>C, p.(Leu549Pro)" "homozygous" "Germline" "?" "" "0" "" "" "g.10405314A>G" "" "likely pathogenic" "" "0000878691" "3" "70" "20" "10385962" "10385962" "subst" "0" "00000" "MKKS_000142" "g.10385962A>G" "" "{PMID:Aldahmesh 2014:24488770}" "" "MKKS c.1646T>C, p.(Leu549Pro)" "homozygous" "Germline" "?" "" "0" "" "" "g.10405314A>G" "" "likely pathogenic" "" "0000878692" "3" "70" "20" "10385962" "10385962" "subst" "0" "00000" "MKKS_000142" "g.10385962A>G" "" "{PMID:Aldahmesh 2014:24488770}" "" "MKKS c.1646T>C, p.(Leu549Pro)" "homozygous" "Germline" "?" "" "0" "" "" "g.10405314A>G" "" "likely pathogenic" "" "0000878693" "3" "70" "20" "10394047" "10394047" "subst" "4.06779E-6" "00000" "MKKS_000123" "g.10394047G>A" "" "{PMID:Aldahmesh 2014:24488770}" "" "MKKS c.116C>T, p.(Pro39Leu)" "homozygous" "Germline" "?" "" "0" "" "" "g.10413399G>A" "" "likely pathogenic" "" "0000878694" "3" "70" "20" "10394047" "10394047" "subst" "4.06779E-6" "00000" "MKKS_000123" "g.10394047G>A" "" "{PMID:Aldahmesh 2014:24488770}" "" "MKKS c.116C>T, p.(Pro39Leu)" "homozygous" "Germline" "?" "" "0" "" "" "g.10413399G>A" "" "likely pathogenic" "" "0000879061" "0" "70" "20" "10393748" "10393748" "subst" "1.22046E-5" "00000" "MKKS_000148" "g.10393748G>A" "" "{PMID:Putoux 2010:20805367}" "" "BBS6 c.415C>T, p.Arg139X" "heterozygous" "Germline" "yes" "" "0" "" "" "g.10413100G>A" "" "likely pathogenic" "" "0000880051" "3" "70" "20" "10393913" "10393913" "subst" "0" "00000" "MKKS_000150" "g.10393913G>A" "0/200 chromosomes from the non-Amish control group" "{PMID:Stone 2000:10802661}" "" "MKKS 1137C->T, H84Y" "obsolete nucletotide annotation, it should be c.250C>T and not 1137C->T; predicted to interfere with ATP hydrolysis; linked in this family to a likely benign p.A242S variant; homozygous" "Germline" "yes" "" "0" "" "" "g.10413265G>A" "" "likely pathogenic" "" "0000880052" "11" "70" "20" "10394053" "10394053" "subst" "6.50851E-5" "00000" "MKKS_000005" "g.10394053T>C" "0/200 chromosomes from the non-Amish control group" "{PMID:Stone 2000:10802661}" "" "MKKS 997A->G, Y37C" "obsolete nucletotide annotation, it should be c.110A>G and not 997A->G; heterozygous" "Germline" "yes" "" "0" "" "" "g.10413405T>C" "" "likely pathogenic" "" "0000880053" "3" "70" "20" "10393439" "10393439" "subst" "0.00523439" "00000" "MKKS_000016" "g.10393439C>A" "0/200 chromosomes from the non-Amish control group" "{PMID:Stone 2000:10802661}" "" "MKKS A242S" "no nucleotide annotation, extrapolated from protein and databases; linked in this family to a likely pathogenic p.H84Y variant; homozygous" "Germline" "yes" "" "0" "" "" "g.10412791C>A" "" "likely pathogenic" "" "0000880054" "21" "70" "20" "10388311" "10388312" "del" "0" "00000" "MKKS_000116" "g.10388311_10388312del" "0/200 chromosomes from the non-Amish control group" "{PMID:Stone 2000:10802661}" "" "MKKS 2111-2112delGG" "obsolete nucletotide annotation, it should be c.1225_1226del and not 2111-2112delGG; hete" "Germline" "yes" "" "0" "" "" "g.10407663_10407664del" "" "likely pathogenic" "" "0000880055" "1" "70" "20" "10394008" "10394008" "subst" "8.13319E-6" "00000" "MKKS_000151" "g.10394008C>T" "0/102 chromosomes from Hispanic controls" "{PMID:Slavotinek 2000:10973238}" "" "MKKS 1042G->A, G52D" "obsolete nucletotide annotation, it should be c.155G>A and not 1042G->A; heterozygous" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000880056" "2" "70" "20" "10393371" "10393371" "subst" "0" "00000" "MKKS_000144" "g.10393371A>T" "0/102 chromosomes from Hispanic controls" "{PMID:Slavotinek 2000:10973238}" "" "MKKS 1679T->A, Y264stop" "obsolete nucletotide annotation, it should be c.792T>A and not 1679T->A; heterozygous" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000880057" "3" "70" "20" "10393729" "10393734" "delins" "0" "00000" "MKKS_000147" "g.10393729_10393734delinsAA" "0/102 Northern European control chromosomes" "{PMID:Slavotinek 2000:10973238}" "" "MKKS 1316delC and 1324-1326delGTA" "obsolete nucletotide annotation, it should be c.429_434delinsTT and not 1316delC with 1324-1326delGTA; homozygous" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000880058" "3" "70" "20" "10393729" "10393734" "delins" "0" "00000" "MKKS_000147" "g.10393729_10393734delinsAA" "0/102 Northern European control chromosomes" "{PMID:Slavotinek 2000:10973238}" "" "MKKS 1316delC and 1324-1326delGTA" "obsolete nucletotide annotation, it should be c.429_434delinsTT and not 1316delC with 1324-1326delGTA; homozygous" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000880059" "3" "70" "20" "10393883" "10393883" "del" "0" "00000" "MKKS_000149" "g.10393883del" "0/102 Northern European control chromosomes" "{PMID:Slavotinek 2000:10973238}" "" "MKKS 1167 delT" "obsolete nucletotide annotation, it should be c.281del and not 1167 delT; homozygous" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000880060" "3" "70" "20" "10393883" "10393883" "del" "0" "00000" "MKKS_000149" "g.10393883del" "0/102 Northern European control chromosomes" "{PMID:Slavotinek 2000:10973238}" "" "MKKS 1167 delT" "obsolete nucletotide annotation, it should be c.281del and not 1167 delT; No DNA was available from the father, so might be a deletion on the other allele; homozygous" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000880061" "3" "70" "20" "10393883" "10393883" "del" "0" "00000" "MKKS_000149" "g.10393883del" "0/102 Northern European control chromosomes" "{PMID:Slavotinek 2000:10973238}" "" "MKKS 1167 delT" "obsolete nucletotide annotation, it should be c.281del and not 1167 delT; No DNA was available from the father, so might be a deletion on the other allele; homozygous" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000880084" "21" "70" "20" "10393729" "10393734" "delins" "0" "00000" "MKKS_000147" "g.10393729_10393734delinsAA" "0/172 European or 76 Newfoundland unrelated control chromosomes" "{PMID:Katsanis 2000:10973251}" "" "MKKS fs1=429delCT/433delAG (D143fsX157)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.10413081_10413086delinsAA" "" "likely pathogenic" "" "0000880085" "10" "70" "20" "10393883" "10393883" "del" "0" "00000" "MKKS_000149" "g.10393883del" "0/168 European or 84 Newfoundland unrelated control chromosomes" "{PMID:Katsanis 2000:10973251}" "" "MKKS fs2=280delT (F94fsX103)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.10413235del" "" "likely pathogenic" "" "0000880086" "21" "70" "20" "10393729" "10393734" "delins" "0" "00000" "MKKS_000147" "g.10393729_10393734delinsAA" "0/172 European or 76 Newfoundland unrelated control chromosomes" "{PMID:Katsanis 2000:10973251}" "" "MKKS fs1=429delCT/433delAG (D143fsX157)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.10413081_10413086delinsAA" "" "likely pathogenic" "" "0000880087" "10" "70" "20" "10393883" "10393883" "del" "0" "00000" "MKKS_000149" "g.10393883del" "0/168 European or 84 Newfoundland unrelated control chromosomes" "{PMID:Katsanis 2000:10973251}" "" "MKKS fs2=280delT (F94fsX103)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.10413235del" "" "likely pathogenic" "" "0000880088" "11" "70" "20" "10393333" "10393333" "subst" "6.09959E-5" "00000" "MKKS_000018" "g.10393333A>G" "0/145 European or 80 Newfoundland unrelated control chromosomes" "{PMID:Katsanis 2000:10973251}" "" "MKKS L277P" "heterozygous" "Germline" "yes" "" "0" "" "" "g.10412685A>G" "" "likely pathogenic" "" "0000880089" "21" "70" "20" "10393883" "10393883" "del" "0" "00000" "MKKS_000149" "g.10393883del" "0/168 European or 84 Newfoundland unrelated control chromosomes" "{PMID:Katsanis 2000:10973251}" "" "MKKS fs2=280delT (F94fsX103)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.10413235del" "" "likely pathogenic" "" "0000880090" "3" "70" "20" "10393883" "10393883" "del" "0" "00000" "MKKS_000149" "g.10393883del" "0/168 European or 84 Newfoundland unrelated control chromosomes" "{PMID:Katsanis 2000:10973251}" "" "MKKS fs2=280delT (F94fsX103)" "homozygous" "Germline" "yes" "" "0" "" "" "g.10413235del" "" "likely pathogenic" "" "0000880091" "3" "70" "20" "10393883" "10393883" "del" "0" "00000" "MKKS_000149" "g.10393883del" "0/168 European or 84 Newfoundland unrelated control chromosomes" "{PMID:Katsanis 2000:10973251}" "" "MKKS fs2=280delT (F94fsX103)" "homozygous" "Germline" "yes" "" "0" "" "" "g.10413235del" "" "likely pathogenic" "" "0000880092" "3" "70" "20" "10393883" "10393883" "del" "0" "00000" "MKKS_000149" "g.10393883del" "0/168 European or 84 Newfoundland unrelated control chromosomes" "{PMID:Katsanis 2000:10973251}" "" "MKKS fs2=280delT (F94fsX103)" "homozygous" "Germline" "yes" "" "0" "" "" "g.10413235del" "" "likely pathogenic" "" "0000880093" "3" "70" "20" "10394053" "10394053" "subst" "6.50851E-5" "00000" "MKKS_000005" "g.10394053T>C" "0/188 European or 24 Newfoundland unrelated control chromosomes" "{PMID:Katsanis 2000:10973251}" "" "MKKS Y37C" "homozygous" "Germline" "yes" "" "0" "" "" "g.10413405T>C" "" "likely pathogenic" "" "0000880094" "3" "70" "20" "10394053" "10394053" "subst" "6.50851E-5" "00000" "MKKS_000005" "g.10394053T>C" "0/188 European or 24 Newfoundland unrelated control chromosomes" "{PMID:Katsanis 2000:10973251}" "" "MKKS Y37C" "homozygous" "Germline" "yes" "" "0" "" "" "g.10413405T>C" "" "likely pathogenic" "" "0000880095" "11" "70" "20" "10393994" "10393994" "subst" "2.03249E-5" "00000" "MKKS_000006" "g.10393994T>C" "0/192 European or 24 Newfoundland unrelated control chromosomes" "{PMID:Katsanis 2000:10973251}" "" "MKKS T57A" "single heterozygous, no second allele found" "Germline" "yes" "" "0" "" "" "g.10413346T>C" "" "likely pathogenic" "" "0000880096" "3" "70" "20" "10393729" "10393734" "delins" "0" "00000" "MKKS_000147" "g.10393729_10393734delinsAA" "0/172 European or 76 Newfoundland unrelated control chromosomes" "{PMID:Katsanis 2000:10973251}" "" "MKKS fs1=429delCT/433delAG (D143fsX157)" "homozygous" "Germline" "yes" "" "0" "" "" "g.10413081_10413086delinsAA" "" "likely pathogenic" "" "0000880097" "3" "70" "20" "10393729" "10393734" "delins" "0" "00000" "MKKS_000147" "g.10393729_10393734delinsAA" "0/172 European or 76 Newfoundland unrelated control chromosomes" "{PMID:Katsanis 2000:10973251}" "" "MKKS fs1=429delCT/433delAG (D143fsX157)" "homozygous" "Germline" "yes" "" "0" "" "" "g.10413081_10413086delinsAA" "" "likely pathogenic" "" "0000880098" "3" "70" "20" "10393725" "10393735" "del" "0" "00000" "MKKS_000146" "g.10393725_10393735del" "" "{PMID:Slavotinek 2002:12107442}" "" "MKKS c.431_441delTTAGTAGTACT" "homozygous" "Germline" "yes" "" "0" "" "" "g.10413077_10413087del" "" "likely pathogenic" "" "0000880099" "11" "70" "20" "10393287" "10393290" "dup" "0" "00000" "MKKS_000143" "g.10393287_10393290dup" "" "{PMID:Slavotinek 2002:12107442}" "" "MKKS c.876_877insCCTG" "heterozygous; single heterozygous, no second allele found" "Germline" "yes" "" "0" "" "" "g.10412639_10412642dup" "" "likely pathogenic" "" "0000880100" "3" "70" "20" "10389403" "10389403" "subst" "1.21968E-5" "00000" "MKKS_000013" "g.10389403C>T" "" "{PMID:Slavotinek 2002:12107442}" "" "MKKS c.1034G->A, p.G345E" "homozygous" "Germline" "yes" "" "0" "" "" "g.10408755C>T" "" "likely pathogenic" "" "0000880101" "21" "70" "20" "10393699" "10393699" "subst" "0" "00000" "MKKS_000145" "g.10393699C>A" "0/108 ethnically matched control chromosomes" "{PMID:Slavotinek 2002:12107442}" "" "MKKS c.463G->T, p.R155L" "error in annotation, should be c.464G>T and not c.463G>T; single heterozygous, no second allele found; no alterations in BBS2" "Germline" "yes" "" "0" "" "" "g.10413051C>A" "" "likely pathogenic" "" "0000880102" "0" "70" "20" "10389422" "10389422" "subst" "0.0042253" "00000" "MKKS_000015" "g.10389422T>C" "0/100 ethnically matched control chromosomes" "{PMID:Slavotinek 2002:12107442}" "" "MKKS c.1015G->A, p.I339V" "error in annotation, should be c.1015A>G and not c.1015G>A; single heterozygous, no second allele found; no alterations in BBS2; likely benign, found in several other patients" "Germline" "yes" "" "0" "" "" "g.10408774T>C" "" "likely pathogenic" "" "0000880104" "0" "30" "20" "10386059" "10386059" "subst" "0.140368" "00000" "MKKS_000051" "g.10386059G>A" "" "{PMID:Andersen 2005:15483080}" "" "MKKS Arg517Cys" "no nucleotide annotation, extrapolated from protein and databases; risk of juvenile-onset obesity in 744 obese and 867 control subjects:11.9% obese and 9.5% control (P 0.048; Table 1); genotype quantitative trait analyse: no significant relationships" "Unknown" "?" "" "0" "" "" "g.10405411G>A" "" "likely benign" "" "0000880105" "0" "70" "20" "10393439" "10393439" "subst" "0.00523439" "00000" "MKKS_000016" "g.10393439C>A" "" "{PMID:Stone 2000:10802661}" "" "MKKS Ala242Ser" "no nucleotide annotation, extrapolated from protein and databases; single carrier, all siblings wild type, but some overweight, the patient morbidly obese; heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.10412791C>A" "" "likely pathogenic" "" "0000880106" "3" "70" "20" "10393439" "10393439" "subst" "0.00523439" "00000" "MKKS_000016" "g.10393439C>A" "" "{PMID:Stone 2000:10802661}" "" "MKKS Ala242Ser" "no nucleotide annotation, extrapolated from protein and databases; linked in this family to obesity, both in heterozygous parents and homozygous patient" "Germline" "yes" "" "0" "" "" "g.10412791C>A" "" "likely pathogenic" "" "0000880107" "3" "70" "20" "10393439" "10393439" "subst" "0.00523439" "00000" "MKKS_000016" "g.10393439C>A" "" "{PMID:Stone 2000:10802661}" "" "MKKS Ala242Ser" "no nucleotide annotation, extrapolated from protein and databases; linked in this family to obesity, both in heterozygous parents and homozygous patient" "Germline" "yes" "" "0" "" "" "g.10412791C>A" "" "likely pathogenic" "" "0000880108" "3" "70" "20" "10393439" "10393439" "subst" "0.00523439" "00000" "MKKS_000016" "g.10393439C>A" "" "{PMID:Stone 2000:10802661}" "" "MKKS Ala242Ser" "no nucleotide annotation, extrapolated from protein and databases; linked in this family to obesity, both in heterozygous parents and homozygous patient" "Germline" "yes" "" "0" "" "" "g.10412791C>A" "" "likely pathogenic" "" "0000880120" "0" "10" "20" "10393629" "10393629" "subst" "0.139672" "00000" "MKKS_000062" "g.10393629G>A" "CC 171/220 obese subjects, CC 275/330 non-obese controls" "{PMID:Rouskas 2008:18813213}" "" "MKKS 534C>T" "association study; frequency difference obese/healthy individuals non-significant" "Unknown" "?" "" "0" "" "" "g.10412981G>A" "" "benign" "" "0000880121" "0" "70" "20" "10393162" "10393162" "subst" "0.139912" "00000" "MKKS_000059" "g.10393162A>C" "TT 186/220, TG/GG 32/200 obese subjects, TT 301/330, TG/GG 20/330 non-obese controls" "{PMID:Rouskas 2008:18813213}" "" "MKKS 985+16T>G" "association study; frequency higher among obese individuals than controls (OR = 2.38, P = 0.0019)" "Unknown" "?" "" "0" "" "" "g.10412514A>C" "" "likely pathogenic" "" "0000880122" "0" "10" "20" "10393145" "10393145" "subst" "0.253171" "00000" "MKKS_000112" "g.10393145C>G" "CC 134/220 obese subjects, 218/330 non-obese controls" "{PMID:Rouskas 2008:18813213}" "" "MKKS 985+33C>G" "association study; mutated nucleotide is actually a reference nucleotide now; frequency difference obese/healthy individuals non-significant" "Unknown" "?" "" "0" "" "" "g.10412497C>G" "" "benign" "" "0000880123" "0" "70" "20" "10389480" "10389480" "subst" "0.151601" "00000" "MKKS_000153" "g.10389480T>A" "AA 282/220, AT/TT 47/220 obese subjects, AA 171/330, AT/TT 45/330 non-obese controls" "{PMID:Rouskas 2008:18813213}" "" "MKKS 986-29A>T" "association study; frequency higher among obese individuals than controls (OR = 1.56, P = 0.0 414)" "Unknown" "?" "" "0" "" "" "g.10408832T>A" "" "likely pathogenic" "" "0000880124" "0" "10" "20" "10389218" "10389218" "subst" "0" "00000" "MKKS_000152" "g.10389218T>C" "AA 172/220, AG/GG 46/220 obese subjects, AA 275/330, AG/GG 52/330 non-obese controls" "{PMID:Rouskas 2008:18813213}" "" "MKKS 1161+58A>G" "association study; frequency difference obese/healthy individuals non-significant" "Unknown" "?" "" "0" "" "" "g.10408570T>C" "" "benign" "" "0000880125" "0" "70" "20" "10386013" "10386013" "subst" "0.139749" "00000" "MKKS_000050" "g.10386013C>A" "GG 162/220, GT/TT 58/220 obese subjects, GG 270/330, GT/TT 54/330 non-obese controls" "{PMID:Rouskas 2008:18813213}" "" "MKKS 1595G>T" "association study; frequency higher among obese individuals than controls (OR = 1.63, P = 0.0127)" "Unknown" "?" "" "0" "" "" "g.10405365C>A" "" "likely pathogenic" "" "0000880155" "0" "70" "20" "10389422" "10389422" "subst" "0.0042253" "00000" "MKKS_000015" "g.10389422T>C" "" "{PMID:Chetta 2011:22090721}" "" "MKKS c.1015A>G, p.339 Ile>Val" "heterozygous; also an unknown significance variant 5\'UTR: -417A>C present, which cannot be pinpointed due to the lack of information" "Germline/De novo (untested)" "?" "" "0" "" "" "g.10408774T>C" "" "likely pathogenic" "" "0000880156" "0" "70" "20" "10393439" "10393439" "subst" "0.00523439" "00000" "MKKS_000016" "g.10393439C>A" "" "{PMID:Chetta 2011:22090721}" "" "MKKS c.724G>T, p.242Ala>Ser" "heterozygous; also an unknown significance variant 5\'UTR: -417A>C present, which cannot be pinpointed due to the lack of information" "Germline/De novo (untested)" "?" "" "0" "" "" "g.10412791C>A" "" "likely pathogenic" "" "0000880159" "3" "70" "20" "10388352" "10388352" "subst" "4.06722E-6" "00000" "MKKS_000087" "g.10388352T>C" "" "{PMID:Hulleman 2016:26900326}" "" "MKKS c.1184A>G, p.H395R" "variant reduces the ability of MKKS to bind to BBS12, in HEK-293T cells and to a lesser extent in ARPE-19 cells; homozygous" "Germline" "yes" "" "0" "" "" "g.10407704T>C" "" "likely pathogenic" "" "0000880160" "3" "70" "20" "10388352" "10388352" "subst" "4.06722E-6" "00000" "MKKS_000087" "g.10388352T>C" "" "{PMID:Hulleman 2016:26900326}" "" "MKKS c.1184A>G, p.H395R" "variant reduces the ability of MKKS to bind to BBS12, in HEK-293T cells and to a lesser extent in ARPE-19 cells; homozygous" "Germline" "yes" "" "0" "" "" "g.10407704T>C" "" "likely pathogenic" "" "0000880164" "3" "90" "20" "10386172" "10386172" "subst" "1.2186E-5" "00006" "MKKS_000029" "g.10386172G>C" "" "{PMID:Smaoui 2006:16877420}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000880185" "0" "10" "20" "10394046" "10394046" "subst" "0.150563" "00006" "MKKS_000067" "g.10394046G>A" "4/19 families BBS" "{PMID:Smaoui 2006:16877420}" "" "" "" "Germline" "" "rs17852626" "0" "" "" "g.10413398G>A" "" "benign" "" "0000880186" "0" "10" "20" "10393629" "10393629" "subst" "0.139672" "00006" "MKKS_000062" "g.10393629G>A" "3/19 families BBS" "{PMID:Smaoui 2006:16877420}" "" "" "" "Germline" "" "rs17852625" "0" "" "" "g.10412981G>A" "" "benign" "" "0000880187" "0" "10" "20" "10393145" "10393145" "subst" "0.253171" "00006" "MKKS_000112" "g.10393145C>G" "7/19 families BBS" "{PMID:Smaoui 2006:16877420}" "" "" "" "Germline" "" "rs221667" "0" "" "" "g.10412497C>G" "" "benign" "" "0000880188" "0" "10" "20" "10393162" "10393162" "subst" "0.139912" "00006" "MKKS_000059" "g.10393162A>C" "3/19 families BBS" "{PMID:Smaoui 2006:16877420}" "" "" "" "Germline" "" "rs6133917" "0" "" "" "g.10412514A>C" "" "benign" "" "0000880189" "0" "10" "20" "10389480" "10389480" "subst" "0.151601" "00006" "MKKS_000153" "g.10389480T>A" "2/19 families BBS" "{PMID:Smaoui 2006:16877420}" "" "" "" "Germline" "" "rs764266" "0" "" "" "g.10408832T>A" "" "benign" "" "0000880190" "0" "10" "20" "10386013" "10386013" "subst" "0.139749" "00006" "MKKS_000050" "g.10386013C>A" "2/19 families BBS" "{PMID:Smaoui 2006:16877420}" "" "" "" "Germline" "" "rs1545" "0" "" "" "g.10405365C>A" "" "benign" "" "0000880191" "0" "10" "20" "10386059" "10386059" "subst" "0.140368" "00006" "MKKS_000051" "g.10386059G>A" "5/19 families BBS" "{PMID:Smaoui 2006:16877420}" "" "" "" "Germline" "" "rs1547" "0" "" "" "g.10405411G>A" "" "benign" "" "0000880201" "21" "70" "20" "10393456" "10393456" "subst" "0" "00000" "MKKS_000154" "g.10393456G>T" "" "{PMID:Garcia-Tizon Larroca 2017:28396767}" "" "MKKS p.Ser236*" "no nucleotide annotation, extrapolated from protein and databases; C>G also possible; heterozygous" "Germline" "yes" "" "0" "" "" "g.10412808G>T" "" "likely pathogenic" "" "0000880202" "11" "70" "20" "10393292" "10393292" "subst" "0" "00000" "MKKS_000118" "g.10393292C>A" "" "{PMID:Garcia-Tizon Larroca 2017:28396767}" "" "MKKS p.Val291Phe" "no nucleotide annotation, extrapolated from protein and databases; heterozygous" "Germline" "yes" "" "0" "" "" "g.10412644C>A" "" "likely pathogenic" "" "0000880206" "3" "70" "20" "10393389" "10393389" "del" "0" "00000" "MKKS_000089" "g.10393389del" "" "{PMID:Ullah 2018:29232001}" "" "MKKS c.775-775delA, p.Thr259Leufs*21" "homozygous" "Germline" "yes" "" "0" "" "" "g.10412741del" "" "likely pathogenic" "" "0000880207" "3" "70" "20" "10393389" "10393389" "del" "0" "00000" "MKKS_000089" "g.10393389del" "" "{PMID:Ullah 2018:29232001}" "" "MKKS c.775-775delA, p.Thr259Leufs*21" "homozygous" "Germline" "yes" "" "0" "" "" "g.10412741del" "" "likely pathogenic" "" "0000880208" "3" "70" "20" "10393876" "10393876" "subst" "0" "00000" "MKKS_000155" "g.10393876G>A" "" "{PMID:Ullah 2018:29232001}" "" "MKKS c.287C>T, p.Ala96Val" "homozygous" "Germline" "yes" "" "0" "" "" "g.10413228G>A" "" "likely pathogenic" "" "0000880209" "3" "70" "20" "10393876" "10393876" "subst" "0" "00000" "MKKS_000155" "g.10393876G>A" "" "{PMID:Ullah 2018:29232001}" "" "MKKS c.287C>T, p.Ala96Val" "homozygous" "Germline" "yes" "" "0" "" "" "g.10413228G>A" "" "likely pathogenic" "" "0000895207" "0" "50" "20" "10388352" "10388352" "subst" "4.06722E-6" "02327" "MKKS_000087" "g.10388352T>C" "" "" "" "MKKS(NM_018848.3):c.1184A>G (p.(His395Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895208" "0" "50" "20" "10388361" "10388361" "subst" "2.03631E-5" "02327" "MKKS_000129" "g.10388361G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895209" "0" "30" "20" "10389262" "10389262" "del" "0" "02326" "MKKS_000057" "g.10389262del" "" "" "" "MKKS(NM_018848.3):c.1161+16delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895210" "0" "30" "20" "10393168" "10393168" "subst" "0" "02326" "MKKS_000156" "g.10393168T>G" "" "" "" "MKKS(NM_018848.3):c.985+10A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000900027" "3" "70" "20" "10389452" "10389452" "subst" "8.19048E-6" "00000" "MKKS_000125" "g.10389452C>T" "" "{PMID:Aizawa 2020:31944471}" "" "MKKS c.986-1G>A" "homozygous" "Germline" "yes" "" "0" "" "" "g.10408804C>T" "" "likely pathogenic" "" "0000900028" "3" "70" "20" "10389452" "10389452" "subst" "8.19048E-6" "00000" "MKKS_000125" "g.10389452C>T" "" "{PMID:Aizawa 2020:31944471}" "" "MKKS c.986-1G>A" "homozygous" "Germline" "yes" "" "0" "" "" "g.10408804C>T" "" "likely pathogenic" "" "0000900029" "3" "70" "20" "10393645" "10393645" "subst" "0" "00000" "MKKS_000158" "g.10393645T>G" "0/150 ethnically-matched controls" "{PMID:Goya 2020:31989739}" "" "MKKS c.518A>C (p.His173Pro)" "homozygous" "Germline" "yes" "" "0" "" "" "g.10412997T>G" "" "likely pathogenic" "" "0000900030" "3" "70" "20" "10393645" "10393645" "subst" "0" "00000" "MKKS_000158" "g.10393645T>G" "0/150 ethnically-matched controls" "{PMID:Goya 2020:31989739}" "" "MKKS c.518A>C (p.His173Pro)" "homozygous" "Germline" "yes" "" "0" "" "" "g.10412997T>G" "" "likely pathogenic" "" "0000900031" "3" "70" "20" "10393645" "10393645" "subst" "0" "00000" "MKKS_000158" "g.10393645T>G" "0/150 ethnically-matched controls" "{PMID:Goya 2020:31989739}" "" "MKKS c.518A>C (p.His173Pro)" "homozygous" "Germline" "yes" "" "0" "" "" "g.10412997T>G" "" "likely pathogenic" "" "0000900032" "3" "70" "20" "10393574" "10393574" "subst" "0" "00000" "MKKS_000157" "g.10393574C>A" "" "{PMID:Mishima 2020:33363891}" "" "MKKS c.589G>T, p.Gly197*" "homozygous" "Germline" "yes" "" "0" "" "" "g.10412926C>A" "" "likely pathogenic" "" "0000915338" "0" "30" "20" "10393341" "10393341" "subst" "2.44033E-5" "02326" "MKKS_000159" "g.10393341G>A" "" "" "" "MKKS(NM_018848.3):c.822C>T (p.D274=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000951390" "0" "70" "20" "10393333" "10393333" "subst" "6.09959E-5" "02326" "MKKS_000018" "g.10393333A>G" "" "" "" "MKKS(NM_018848.3):c.830T>C (p.L277P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000958085" "3" "90" "20" "10394053" "10394053" "subst" "6.50851E-5" "00006" "MKKS_000005" "g.10394053T>C" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PP5_STRONG" "Germline" "" "" "0" "" "" "g.10413405T>C" "5309" "pathogenic (recessive)" "ACMG" "0000958955" "1" "90" "20" "10393333" "10393333" "subst" "6.09959E-5" "00006" "MKKS_000018" "g.10393333A>G" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PP5_STRONG" "Germline" "" "" "0" "" "" "g.10412685A>G" "" "pathogenic (recessive)" "ACMG" "0000959394" "2" "50" "20" "10393360" "10393360" "subst" "2.03399E-5" "00006" "MKKS_000160" "g.10393360A>C" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2" "Germline" "" "" "0" "" "" "g.10412712A>C" "" "VUS" "ACMG" "0000983719" "0" "50" "20" "10389277" "10389277" "subst" "8.12817E-6" "02327" "MKKS_000077" "g.10389277T>C" "" "" "" "MKKS(NM_018848.3):c.1160A>G (p.K387R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983720" "0" "90" "20" "10389390" "10389391" "del" "0" "02329" "MKKS_000161" "g.10389390_10389391del" "" "" "" "MKKS(NM_170784.3):c.1046_1047delAT (p.D349Gfs*17)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000983721" "0" "50" "20" "10389398" "10389398" "subst" "0" "01804" "MKKS_000162" "g.10389398C>A" "" "" "" "MKKS(NM_170784.3):c.1039G>T (p.(Val347Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983722" "0" "30" "20" "10389422" "10389422" "subst" "0.0042253" "01804" "MKKS_000015" "g.10389422T>C" "" "" "" "MKKS(NM_018848.3):c.1015A>G (p.I339V), MKKS(NM_170784.2):c.1015A>G (p.(Ile339Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983723" "0" "10" "20" "10393162" "10393162" "subst" "0.139912" "02327" "MKKS_000059" "g.10393162A>C" "" "" "" "MKKS(NM_018848.3):c.985+16T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001005252" "0" "70" "20" "10393702" "10393702" "subst" "4.06736E-6" "01804" "MKKS_000163" "g.10393702A>C" "" "" "" "MKKS(NM_170784.2):c.461T>G (p.(Val154Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001005253" "0" "30" "20" "10401235" "10401235" "subst" "0" "01804" "MKKS_000164" "g.10401235C>A" "" "" "" "MKKS(NM_170784.2):c.-477G>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001027287" "0" "50" "20" "10386198" "10386198" "subst" "0" "01943" "MKKS_000165" "g.10386198A>T" "" "" "" "MKKS(NM_018848.3):c.1410T>A (p.T470=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043247" "0" "50" "20" "10393292" "10393292" "subst" "2.03254E-5" "01804" "MKKS_000166" "g.10393292C>T" "" "" "" "MKKS(NM_170784.3):c.871G>A (p.(Val291Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043248" "0" "50" "20" "10394156" "10394156" "subst" "9.37475E-5" "01804" "MKKS_000086" "g.10394156G>A" "" "" "" "MKKS(NM_170784.3):c.7C>T (p.(Arg3Cys))" "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 MKKS ## Count = 317 "{{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}}" "0000046843" "00024048" "70" "724" "0" "724" "0" "c.724G>T" "r.(?)" "p.(Ala242Ser)" "3" "0000046844" "00024048" "00" "67" "0" "67" "0" "c.67A>G" "r.(?)" "p.(Arg23Gly)" "3" "0000091162" "00024048" "70" "1186" "0" "1186" "0" "c.1186G>T" "r.(?)" "p.(Val396Phe)" "5" "0000091163" "00024048" "70" "269" "0" "269" "0" "c.269A>G" "r.(?)" "p.(Asp90Gly)" "3" "0000253941" "00024048" "10" "985" "16" "985" "16" "c.985+16T>G" "r.(=)" "p.(=)" "3i" "0000255008" "00024048" "30" "1356" "0" "1356" "0" "c.1356T>C" "r.(?)" "p.(Ser452=)" "6" "0000279789" "00024048" "30" "1015" "0" "1015" "0" "c.1015A>G" "r.(?)" "p.(Ile339Val)" "4" "0000279790" "00024048" "10" "1176" "0" "1176" "0" "c.1176G>A" "r.(?)" "p.(Thr392=)" "5" "0000279791" "00024048" "10" "1553" "0" "1553" "0" "c.1553G>A" "r.(?)" "p.(Arg518His)" "6" "0000279792" "00024048" "10" "207" "0" "207" "0" "c.207C>T" "r.(?)" "p.(Val69=)" "3" "0000279793" "00024048" "10" "724" "0" "724" "0" "c.724G>T" "r.(?)" "p.(Ala242Ser)" "3" "0000283683" "00024048" "70" "1034" "0" "1034" "0" "c.1034G>A" "r.(?)" "p.(Gly345Glu)" "4" "0000286588" "00024048" "10" "1015" "0" "1015" "0" "c.1015A>G" "r.(?)" "p.(Ile339Val)" "4" "0000286589" "00024048" "10" "1462" "0" "1462" "0" "c.1462G>A" "r.(?)" "p.(Ala488Thr)" "6" "0000286590" "00024048" "10" "1549" "0" "1549" "0" "c.1549C>T" "r.(?)" "p.(Arg517Cys)" "6" "0000286591" "00024048" "30" "1553" "0" "1553" "0" "c.1553G>A" "r.(?)" "p.(Arg518His)" "6" "0000286592" "00024048" "10" "1595" "0" "1595" "0" "c.1595G>T" "r.(?)" "p.(Gly532Val)" "6" "0000286593" "00024048" "10" "16" "0" "16" "0" "c.16G>A" "r.(?)" "p.(Ala6Thr)" "3" "0000286594" "00024048" "30" "416" "0" "416" "0" "c.416G>A" "r.(?)" "p.(Arg139Gln)" "3" "0000286595" "00024048" "30" "67" "0" "67" "0" "c.67A>G" "r.(?)" "p.(Arg23Gly)" "3" "0000286596" "00024048" "30" "724" "0" "724" "0" "c.724G>T" "r.(?)" "p.(Ala242Ser)" "3" "0000291829" "00024048" "30" "114" "0" "114" "0" "c.114C>T" "r.(?)" "p.(Gly38=)" "3" "0000291830" "00024048" "30" "1161" "3" "1161" "3" "c.1161+3A>G" "r.spl?" "p.?" "4i" "0000291831" "00024048" "10" "117" "0" "117" "0" "c.117C>T" "r.(?)" "p.(Pro39=)" "3" "0000291832" "00024048" "90" "1436" "0" "1436" "0" "c.1436C>G" "r.(?)" "p.(Ser479Ter)" "6" "0000291833" "00024048" "50" "1445" "0" "1445" "0" "c.1445C>A" "r.(?)" "p.(Ala482Glu)" "6" "0000291834" "00024048" "30" "1526" "0" "1526" "0" "c.1526A>G" "r.(?)" "p.(Asn509Ser)" "6" "0000291835" "00024048" "10" "1549" "0" "1549" "0" "c.1549C>T" "r.(?)" "p.(Arg517Cys)" "6" "0000291836" "00024048" "10" "1595" "0" "1595" "0" "c.1595G>T" "r.(?)" "p.(Gly532Val)" "6" "0000291837" "00024048" "50" "166" "0" "166" "0" "c.166A>G" "r.(?)" "p.(Thr56Ala)" "3" "0000291838" "00024048" "30" "1689" "0" "1689" "0" "c.1689A>G" "r.(?)" "p.(Ser563=)" "6" "0000291839" "00024048" "50" "169" "0" "169" "0" "c.169A>G" "r.(?)" "p.(Thr57Ala)" "3" "0000291840" "00024048" "10" "534" "0" "534" "0" "c.534C>T" "r.(?)" "p.(Ile178=)" "3" "0000291841" "00024048" "50" "676" "0" "676" "0" "c.676C>A" "r.(?)" "p.(Gln226Lys)" "3" "0000291842" "00024048" "30" "724" "0" "724" "0" "c.724G>T" "r.(?)" "p.(Ala242Ser)" "3" "0000339245" "00024048" "10" "534" "0" "534" "0" "c.534C>T" "r.(?)" "p.(Ile178=)" "3" "0000339246" "00024048" "10" "117" "0" "117" "0" "c.117C>T" "r.(?)" "p.(Pro39=)" "3" "0000343043" "00024048" "10" "1549" "0" "1549" "0" "c.1549C>T" "r.(?)" "p.(Arg517Cys)" "6" "0000344115" "00024048" "90" "1410" "0" "1413" "0" "c.1410_1413del" "r.(?)" "p.(Asp471Ter)" "6" "0000346147" "00024048" "10" "1595" "0" "1595" "0" "c.1595G>T" "r.(?)" "p.(Gly532Val)" "6" "0000347065" "00024048" "70" "830" "0" "830" "0" "c.830T>C" "r.(?)" "p.(Leu277Pro)" "3" "0000350067" "00024048" "90" "110" "0" "110" "0" "c.110A>G" "r.(?)" "p.(Tyr37Cys)" "3" "0000370537" "00024048" "70" "1232" "0" "1232" "0" "c.1232G>C" "r.(?)" "p.(Gly411Ala)" "5" "0000569007" "00024048" "70" "1436" "0" "1436" "0" "c.1436C>G" "r.(?)" "p.(Ser479Ter)" "" "0000569008" "00024048" "50" "1294" "0" "1294" "0" "c.1294A>T" "r.(?)" "p.(Ile432Phe)" "" "0000569009" "00024048" "30" "1294" "0" "1294" "0" "c.1294A>T" "r.(?)" "p.(Ile432Phe)" "" "0000569011" "00024048" "50" "1160" "0" "1160" "0" "c.1160A>G" "r.(?)" "p.(Lys387Arg)" "" "0000569013" "00024048" "10" "1015" "0" "1015" "0" "c.1015A>G" "r.(?)" "p.(Ile339Val)" "" "0000569014" "00024048" "30" "926" "0" "926" "0" "c.926G>A" "r.(?)" "p.(Arg309His)" "" "0000569015" "00024048" "30" "724" "0" "724" "0" "c.724G>T" "r.(?)" "p.(Ala242Ser)" "" "0000569016" "00024048" "50" "724" "0" "724" "0" "c.724G>A" "r.(?)" "p.(Ala242Thr)" "" "0000569017" "00024048" "30" "636" "0" "636" "0" "c.636C>T" "r.(?)" "p.(Ser212=)" "" "0000569018" "00024048" "50" "485" "0" "485" "0" "c.485C>T" "r.(?)" "p.(Pro162Leu)" "" "0000569019" "00024048" "30" "420" "0" "420" "0" "c.420C>T" "r.(?)" "p.(Ile140=)" "" "0000569021" "00024048" "50" "363" "0" "363" "0" "c.363A>C" "r.(?)" "p.(Lys121Asn)" "" "0000569022" "00024048" "30" "336" "0" "336" "0" "c.336A>G" "r.(?)" "p.(Thr112=)" "" "0000569023" "00024048" "90" "110" "0" "110" "0" "c.110A>G" "r.(?)" "p.(Tyr37Cys)" "" "0000569024" "00024048" "90" "110" "0" "110" "0" "c.110A>G" "r.(?)" "p.(Tyr37Cys)" "" "0000569025" "00024048" "90" "110" "0" "110" "0" "c.110A>G" "r.(?)" "p.(Tyr37Cys)" "" "0000617975" "00024048" "90" "1239" "0" "1242" "0" "c.1239_1242dup" "r.(?)" "p.(Thr415Ter)" "" "0000617976" "00024048" "50" "1184" "0" "1184" "0" "c.1184A>G" "r.(?)" "p.(His395Arg)" "" "0000638714" "00024048" "90" "775" "0" "775" "0" "c.775del" "r.(?)" "p.(Thr259Leufs*21)" "" "0000650720" "00024048" "10" "757" "0" "757" "0" "c.757T>C" "r.(?)" "p.(Ser253Pro)" "" "0000650721" "00024048" "30" "724" "0" "724" "0" "c.724G>T" "r.(?)" "p.(Ala242Ser)" "" "0000650722" "00024048" "10" "416" "0" "416" "0" "c.416G>A" "r.(?)" "p.(Arg139Gln)" "" "0000658705" "00024048" "30" "1282" "0" "1282" "0" "c.1282G>A" "r.(?)" "p.(Asp428Asn)" "" "0000658706" "00024048" "30" "1167" "0" "1167" "0" "c.1167G>A" "r.(?)" "p.(Thr389=)" "" "0000658707" "00024048" "30" "1006" "0" "1006" "0" "c.1006C>G" "r.(?)" "p.(Leu336Val)" "" "0000681553" "00024048" "70" "1034" "0" "1034" "0" "c.1034G>A" "r.(?)" "p.(Gly345Glu)" "" "0000681554" "00024048" "30" "1015" "0" "1015" "0" "c.1015A>G" "r.(?)" "p.(Ile339Val)" "" "0000685766" "00024048" "50" "1015" "0" "1015" "0" "c.1015A>G" "r.(?)" "p.(Ile339Val)" "" "0000685778" "00024048" "50" "1015" "0" "1015" "0" "c.1015A>G" "r.(?)" "p.(Ile339Val)" "" "0000685784" "00024048" "50" "1015" "0" "1015" "0" "c.1015A>G" "r.(?)" "p.(Ile339Val)" "" "0000685788" "00024048" "50" "1015" "0" "1015" "0" "c.1015A>G" "r.(?)" "p.(Ile339Val)" "" "0000685795" "00024048" "50" "1015" "0" "1015" "0" "c.1015A>G" "r.(?)" "p.(Ile339Val)" "" "0000692930" "00024048" "70" "830" "0" "830" "0" "c.830T>C" "r.(?)" "p.(Leu277Pro)" "" "0000692931" "00024048" "90" "732" "0" "733" "0" "c.732_733del" "r.(?)" "p.(Phe244LeufsTer10)" "" "0000692932" "00024048" "30" "67" "0" "67" "0" "c.67A>G" "r.(?)" "p.(Arg23Gly)" "" "0000701854" "00024048" "50" "775" "0" "775" "0" "c.775del" "r.(?)" "p.(Thr259Leufs*21)" "" "0000727596" "00024048" "90" "763" "0" "763" "0" "c.763dup" "r.(?)" "p.(Thr255AsnfsTer15)" "" "0000727597" "00024048" "50" "59" "0" "59" "0" "c.59A>G" "r.(?)" "p.(Glu20Gly)" "" "0000731036" "00024048" "50" "1015" "0" "1015" "0" "c.1015A>G" "r.(?)" "p.(Ile339Val)" "" "0000732511" "00024048" "90" "760" "0" "760" "0" "c.760G>T" "r.(?)" "p.(Asp254Tyr)" "" "0000733324" "00024048" "70" "844" "0" "844" "0" "c.844C>T" "r.(?)" "p.(Gln282*)" "" "0000733325" "00024048" "70" "110" "0" "110" "0" "c.110A>G" "r.(?)" "p.(Tyr37Cys)" "" "0000733710" "00024048" "70" "1432" "0" "1432" "0" "c.1432T>C" "r.(?)" "p.(Trp478Arg)" "" "0000759702" "00024048" "90" "724" "0" "724" "0" "c.724G>T" "r.(?)" "p.(Ala242Ser)" "" "0000760031" "00024048" "50" "1553" "0" "1553" "0" "c.1553G>A" "r.(?)" "p.(Arg518His)" "" "0000760065" "00024048" "50" "1015" "0" "1015" "0" "c.1015A>G" "r.(?)" "p.(Ile339Val)" "" "0000760087" "00024048" "50" "1015" "0" "1015" "0" "c.1015A>G" "r.(?)" "p.(Ile339Val)" "" "0000760099" "00024048" "50" "724" "0" "724" "0" "c.724G>T" "r.(?)" "p.(Ala242Ser)" "" "0000765817" "00024048" "70" "295" "0" "295" "0" "c.295T>C" "r.(?)" "p.(Cys99Arg)" "" "0000788436" "00024048" "50" "757" "0" "757" "0" "c.757T>C" "r.(?)" "p.(Ser253Pro)" "3" "0000795043" "00024048" "90" "1272" "1" "1272" "1" "c.1272+1G>A" "r.spl?" "p.?" "5i" "0000795052" "00024048" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "1" "0000797694" "00024048" "70" "837" "0" "837" "0" "c.837del" "r.(?)" "p.(Gly280Glufs*4)" "" "0000797695" "00024048" "50" "890" "0" "890" "0" "c.890T>C" "r.(?)" "p.(Ile297Thr)" "" "0000798030" "00024048" "70" "1239" "0" "1242" "0" "c.1239_1242dup" "r.(?)" "p.(Thr415*)" "" "0000798544" "00024048" "70" "110" "0" "110" "0" "c.110A>G" "r.(?)" "p.(Tyr37Cys)" "3" "0000798547" "00024048" "70" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "" "0000798549" "00024048" "70" "724" "0" "724" "0" "c.724G>T" "r.(?)" "p.(Ala242Ser)" "3" "0000798554" "00024048" "70" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "" "0000809156" "00024048" "30" "1553" "0" "1553" "0" "c.1553G>A" "r.(?)" "p.(Arg518His)" "" "0000809157" "00024048" "10" "16" "0" "16" "0" "c.16G>A" "r.(?)" "p.(Ala6Thr)" "" "0000810851" "00024048" "50" "1595" "0" "1595" "0" "c.1595G>T" "r.(?)" "p.(Gly532Val)" "6" "0000810852" "00024048" "50" "1549" "0" "1549" "0" "c.1549C>T" "r.(?)" "p.(Arg517Cys)" "6" "0000810853" "00024048" "50" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "" "0000810901" "00024048" "50" "1595" "0" "1595" "0" "c.1595G>T" "r.(?)" "p.(Gly532Val)" "6" "0000810902" "00024048" "50" "1549" "0" "1549" "0" "c.1549C>T" "r.(?)" "p.(Arg517Cys)" "6" "0000810903" "00024048" "50" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "" "0000810953" "00024048" "50" "429" "0" "433" "0" "c.429_433delinsTT" "r.(?)" "p.(Phe144_Ser145delinsCys)" "3" "0000810954" "00024048" "50" "1436" "0" "1436" "0" "c.1436C>G" "r.(?)" "p.(Ser479*)" "6" "0000810955" "00024048" "50" "1015" "0" "1015" "0" "c.1015A>G" "r.(?)" "p.(Ile339Val)" "4" "0000810956" "00024048" "90" "709" "0" "709" "0" "c.709A>C" "r.(?)" "p.(Thr237Pro)" "3" "0000810957" "00024048" "50" "709" "0" "709" "0" "c.709A>G" "r.(?)" "p.(Thr237Ala)" "3" "0000810976" "00024048" "70" "748" "0" "748" "0" "c.748G>A" "r.(?)" "p.(Gly250Arg)" "3" "0000810992" "00024048" "70" "1595" "0" "1595" "0" "c.1595G>T" "r.(?)" "p.(Gly532Val)" "6" "0000810993" "00024048" "70" "1549" "0" "1549" "0" "c.1549C>T" "r.(?)" "p.(Arg517Cys)" "6" "0000810998" "00024048" "70" "1595" "0" "1595" "0" "c.1595G>T" "r.(?)" "p.(Gly532Val)" "6" "0000810999" "00024048" "70" "1549" "0" "1549" "0" "c.1549C>T" "r.(?)" "p.(Arg517Cys)" "6" "0000811087" "00024048" "70" "169" "0" "169" "0" "c.169A>G" "r.(?)" "p.(Thr57Ala)" "3" "0000811122" "00024048" "70" "110" "0" "110" "0" "c.110A>G" "r.(?)" "p.(Tyr37Cys)" "3" "0000811123" "00024048" "70" "110" "0" "110" "0" "c.110A>G" "r.(?)" "p.(Tyr37Cys)" "3" "0000811124" "00024048" "90" "890" "0" "890" "0" "c.890T>C" "r.(?)" "p.(Ile297Thr)" "3" "0000811125" "00024048" "90" "1648" "0" "1648" "0" "c.1648C>T" "r.(?)" "p.(Gln550*)" "6" "0000811206" "00024048" "30" "1015" "0" "1015" "0" "c.1015A>G" "r.(?)" "p.(Ile339Val)" "4" "0000811208" "00024048" "30" "724" "0" "724" "0" "c.724G>T" "r.(?)" "p.(Ala242Ser)" "3" "0000811211" "00024048" "90" "837" "0" "837" "0" "c.837del" "r.(?)" "p.(Gly280Glufs*4)" "3" "0000811221" "00024048" "30" "724" "0" "724" "0" "c.724G>T" "r.(?)" "p.(Ala242Ser)" "3" "0000811223" "00024048" "30" "724" "0" "724" "0" "c.724G>T" "r.(?)" "p.(Ala242Ser)" "3" "0000811258" "00024048" "90" "748" "0" "748" "0" "c.748G>A" "r.(?)" "p.(Gly250Arg)" "3" "0000811259" "00024048" "90" "1361" "0" "1361" "0" "c.1361T>C" "r.(?)" "p.(Leu454Pro)" "6" "0000811269" "00024048" "70" "973" "0" "973" "0" "c.973A>C" "r.(?)" "p.(Thr325Pro)" "3" "0000811287" "00024048" "90" "117" "0" "117" "0" "c.117C>T" "r.(=)" "p.(=)" "3" "0000811288" "00024048" "90" "985" "33" "985" "33" "c.985+33G>C" "r.(=)" "p.(=)" "3i" "0000811308" "00024048" "90" "541" "0" "541" "0" "c.541G>C" "r.(?)" "p.(Ala181Pro)" "3" "0000811309" "00024048" "90" "541" "0" "541" "0" "c.541G>C" "r.(?)" "p.(Ala181Pro)" "3" "0000811310" "00024048" "90" "1474" "0" "1474" "0" "c.1474G>A" "r.(?)" "p.(Asp492Asn)" "6" "0000811313" "00024048" "70" "706" "0" "706" "0" "c.706T>C" "r.(?)" "p.(Ser236Pro)" "3" "0000811316" "00024048" "70" "973" "0" "973" "0" "c.973A>C" "r.(?)" "p.(Thr325Pro)" "3" "0000811322" "00024048" "70" "1414" "0" "1414" "0" "c.1414A>G" "r.(?)" "p.(Met472Val)" "6" "0000811328" "00024048" "70" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "" "0000811331" "00024048" "70" "1496" "0" "1496" "0" "c.1496G>C" "r.(?)" "p.(Cys499Ser)" "6" "0000811333" "00024048" "70" "724" "0" "724" "0" "c.724G>T" "r.(?)" "p.(Ala242Ser)" "3" "0000811339" "00024048" "70" "110" "0" "110" "0" "c.110A>G" "r.(?)" "p.(Tyr37Cys)" "3" "0000811456" "00024048" "70" "1232" "0" "1232" "0" "c.1232G>C" "r.(?)" "p.(Gly411Ala)" "" "0000811707" "00024048" "70" "1235" "0" "1235" "0" "c.1235G>T" "c.1235G>T" "p.(Cys412Phe)" "5" "0000813071" "00024048" "70" "110" "0" "110" "0" "c.110A>G" "r.(?)" "p.(Tyr37Cys)" "3" "0000813072" "00024048" "70" "380" "0" "380" "0" "c.380del" "r.(?)" "p.(Cys127Serfs*32)" "3" "0000813073" "00024048" "70" "110" "0" "110" "0" "c.110A>G" "r.(?)" "p.(Tyr37Cys)" "3" "0000813074" "00024048" "70" "1225" "0" "1226" "0" "c.1225_1226del" "r.(?)" "p.(Gly409Argfs*5)" "5" "0000813075" "00024048" "70" "110" "0" "110" "0" "c.110A>G" "r.(?)" "p.(Tyr37Cys)" "3" "0000813112" "00024048" "90" "295" "0" "295" "0" "c.295T>C" "r.(?)" "p.(Cys99Arg)" "3" "0000813113" "00024048" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.F94SfsX9" "" "0000813114" "00024048" "90" "121" "0" "121" "0" "c.121G>C" "r.(?)" "p.(Gly41Arg)" "3" "0000813115" "00024048" "90" "896" "0" "896" "0" "c.896C>T" "r.(?)" "p.(Pro299Leu)" "3" "0000813128" "00024048" "50" "724" "0" "724" "0" "c.724G>T" "r.(?)" "p.(Ala242Ser)" "3" "0000813148" "00024048" "50" "724" "0" "724" "0" "c.724G>T" "r.(?)" "p.(Ala242Ser)" "3" "0000813159" "00024048" "50" "1462" "0" "1462" "0" "c.1462G>A" "r.(?)" "p.(Ala488Thr)" "6" "0000813289" "00024048" "70" "871" "0" "871" "0" "c.871G>T" "r.(?)" "p.(Val291Phe)" "3" "0000813292" "00024048" "70" "871" "0" "871" "0" "c.871G>T" "r.(?)" "p.(Val291Phe)" "3" "0000813298" "00024048" "70" "116" "0" "116" "0" "c.116C>T" "r.(?)" "p.(Pro39Leu)" "3" "0000813916" "00024048" "30" "926" "0" "926" "0" "c.926G>A" "r.(?)" "p.(Arg309His)" "3" "0000814002" "00024048" "50" "724" "0" "724" "0" "c.724G>T" "r.(?)" "p.(Ala242Ser)" "3" "0000814014" "00024048" "90" "1272" "1" "1272" "1" "c.1272+1G>A" "r.spl?" "p.?" "5i" "0000814030" "00024048" "70" "110" "0" "110" "0" "c.110A>G" "r.(?)" "p.(Tyr37Cys)" "3" "0000814031" "00024048" "70" "890" "0" "890" "0" "c.890T>C" "r.(?)" "p.(Ile297Thr)" "3" "0000814061" "00024048" "90" "1272" "1" "1272" "1" "c.1272+1G>A" "r.spl?" "p.?" "5i" "0000814073" "00024048" "50" "-3436" "0" "-3436" "0" "c.-3436C>T" "r.(?)" "p.?" "1" "0000814102" "00024048" "50" "429" "0" "429" "0" "c.429delCT" "r.(?)" "p.?" "3" "0000814103" "00024048" "70" "433" "0" "433" "0" "c.433delAG" "r.(?)" "p.?" "3" "0000814170" "00024048" "70" "295" "0" "295" "0" "c.295T>C" "r.(?)" "p.(Cys99Arg)" "3" "0000814171" "00024048" "70" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "" "0000814172" "00024048" "70" "121" "0" "121" "0" "c.121G>C" "r.(?)" "p.(Gly41Arg)" "3" "0000814173" "00024048" "70" "896" "0" "896" "0" "c.896C>T" "r.(?)" "p.(Pro299Leu)" "3" "0000814195" "00024048" "70" "724" "0" "724" "0" "c.724G>T" "r.(?)" "p.(Ala242Ser)" "3" "0000814214" "00024048" "70" "724" "0" "724" "0" "c.724G>T" "r.(?)" "p.(Ala242Ser)" "3" "0000814229" "00024048" "70" "1462" "0" "1462" "0" "c.1462G>A" "r.(?)" "p.(Ala488Thr)" "6" "0000814564" "00024048" "50" "1294" "0" "1294" "0" "c.1294A>T" "r.(?)" "p.(Ile432Phe)" "6" "0000814583" "00024048" "70" "724" "0" "724" "0" "c.724G>T" "r.(?)" "p.(Ala242Ser)" "3" "0000814584" "00024048" "70" "724" "0" "724" "0" "c.724G>T" "r.(?)" "p.(Ala242Ser)" "3" "0000814626" "00024048" "90" "1496" "0" "1496" "0" "c.1496G>A" "r.(?)" "p.(Cys499Tyr)" "6" "0000815051" "00024048" "90" "269" "0" "269" "0" "c.269A>G" "r.(?)" "p.(Asp90Gly)" "3" "0000815052" "00024048" "90" "1186" "0" "1186" "0" "c.1186G>T" "r.(?)" "p.(Val396Phe)" "5" "0000815053" "00024048" "90" "269" "0" "269" "0" "c.269A>G" "r.(?)" "p.(Asp90Gly)" "3" "0000815054" "00024048" "90" "1186" "0" "1186" "0" "c.1186G>T" "r.(?)" "p.(Val396Phe)" "5" "0000815056" "00024048" "90" "269" "0" "269" "0" "c.269A>G" "r.(?)" "p.(Asp90Gly)" "3" "0000815057" "00024048" "90" "1186" "0" "1186" "0" "c.1186G>T" "r.(?)" "p.(Val396Phe)" "5" "0000817398" "00024048" "70" "724" "0" "724" "0" "c.724G>T" "r.(?)" "p.(Ala242Ser)" "3" "0000817443" "00024048" "70" "748" "0" "748" "0" "c.748G>M" "r.(?)" "p.(Gly250Arg)" "3" "0000817444" "00024048" "70" "1361" "0" "1361" "0" "c.1361T>C" "r.(?)" "p.(Leu454Pro)" "6" "0000817572" "00024048" "50" "3" "0" "3" "0" "c.3G>H" "r.?" "p.?" "3" "0000817573" "00024048" "50" "110" "0" "110" "0" "c.110A>G" "r.(?)" "p.(Tyr37Cys)" "3" "0000817577" "00024048" "70" "986" "-1" "986" "-1" "c.986-1G>A" "r.spl?" "p.?" "3i" "0000818392" "00024048" "70" "1175" "0" "1175" "0" "c.1175C>T" "r.(?)" "p.(Thr392Met)" "5" "0000818393" "00024048" "90" "1192" "0" "1192" "0" "c.1192C>T" "r.(?)" "p.(Gln398*)" "5" "0000818652" "00024048" "90" "119" "0" "119" "0" "c.119C>G" "r.(?)" "p.(Ser40*)" "3" "0000818653" "00024048" "90" "119" "0" "119" "0" "c.119C>G" "r.(?)" "p.(Ser40*)" "3" "0000818654" "00024048" "90" "119" "0" "119" "0" "c.119C>G" "r.(?)" "p.(Ser40*)" "3" "0000822756" "00024048" "90" "775" "0" "775" "0" "c.775del" "r.(?)" "p.(Thr259Leufs*21)" "" "0000822961" "00024048" "70" "295" "0" "295" "0" "c.295T>C" "r.(?)" "p.(Cys99Arg)" "" "0000824323" "00024048" "70" "748" "0" "748" "0" "c.748G>A" "r.(?)" "p.(Gly250Arg)" "" "0000824889" "00024048" "70" "1235" "0" "1235" "0" "c.1235G>C" "r.(?)" "p.(Cys412Ser)" "" "0000824890" "00024048" "70" "1235" "0" "1235" "0" "c.1235G>C" "r.(?)" "p.(Cys412Ser)" "" "0000826991" "00024048" "90" "-7485893" "0" "1187607" "0" "c.-7485893_*1185894del" "r.0?" "p.0?" "" "0000827121" "00024048" "90" "595" "0" "596" "0" "c.595_596del" "r.(?)" "p.(Ser199Phefs*22)" "3" "0000827122" "00024048" "90" "1436" "0" "1436" "0" "c.1436C>G" "r.(?)" "p.(Ser479*)" "6" "0000827123" "00024048" "90" "595" "0" "596" "0" "c.595_596del" "r.(?)" "p.(Ser199Phefs*22)" "3" "0000827124" "00024048" "90" "1436" "0" "1436" "0" "c.1436C>G" "r.(?)" "p.(Ser479*)" "6" "0000828484" "00024048" "90" "748" "0" "748" "0" "c.748G>A" "r.(?)" "p.(Gly250Arg)" "" "0000828494" "00024048" "70" "1530" "0" "1530" "0" "c.1530G>A" "r.(?)" "p.(Trp510*)" "" "0000828507" "00024048" "70" "432" "0" "435" "0" "c.432_435del" "r.(?)" "p.(Phe144Leufs*14)" "" "0000829417" "00024048" "50" "0" "0" "0" "0" "c.(?_-417-1)_*467{0}" "r.0" "p.0" "_3_6_" "0000830034" "00024048" "90" "792" "0" "792" "0" "c.792T>G" "r.(?)" "p.(Tyr264*)" "3" "0000830035" "00024048" "90" "792" "0" "792" "0" "c.792T>G" "r.(?)" "p.(Tyr264*)" "3" "0000830036" "00024048" "90" "295" "0" "295" "0" "c.295T>C" "r.(?)" "p.(Cys99Arg)" "3" "0000830037" "00024048" "90" "492" "0" "492" "0" "c.492T>A" "r.(?)" "p.(Cys164*)" "3" "0000830038" "00024048" "90" "1239" "0" "1242" "0" "c.1239_1242dup" "r.(?)" "p.(Thr415*)" "5" "0000830039" "00024048" "90" "1478" "0" "1478" "0" "c.1478del" "r.(?)" "p.(Leu493Cysfs*21)" "6" "0000830040" "00024048" "90" "1239" "0" "1242" "0" "c.1239_1242dup" "r.(?)" "p.(Thr415*)" "5" "0000830041" "00024048" "90" "1478" "0" "1478" "0" "c.1478del" "r.(?)" "p.(Leu493Cysfs*21)" "6" "0000845917" "00024048" "70" "416" "0" "416" "0" "c.416G>A" "r.(?)" "p.(Arg139Gln)" "" "0000855752" "00024048" "50" "963" "0" "963" "0" "c.963G>A" "r.(?)" "p.(Met321Ile)" "" "0000855753" "00024048" "30" "-417" "-13" "-417" "-13" "c.-417-13dup" "r.(=)" "p.(=)" "" "0000866378" "00024048" "50" "1161" "5" "1161" "5" "c.1161+5G>A" "r.spl?" "p.?" "" "0000866379" "00024048" "30" "-649" "2430" "-649" "2430" "c.-649+2430T>G" "r.(=)" "p.(=)" "" "0000871295" "00024048" "70" "442" "0" "442" "0" "c.442C>T" "r.(?)" "p.(Gln148*)" "" "0000878690" "00024048" "70" "1646" "0" "1646" "0" "c.1646T>C" "r.(?)" "p.(Leu549Pro)" "" "0000878691" "00024048" "70" "1646" "0" "1646" "0" "c.1646T>C" "r.(?)" "p.(Leu549Pro)" "" "0000878692" "00024048" "70" "1646" "0" "1646" "0" "c.1646T>C" "r.(?)" "p.(Leu549Pro)" "" "0000878693" "00024048" "70" "116" "0" "116" "0" "c.116C>T" "r.(?)" "p.(Pro39Leu)" "" "0000878694" "00024048" "70" "116" "0" "116" "0" "c.116C>T" "r.(?)" "p.(Pro39Leu)" "" "0000879061" "00024048" "70" "415" "0" "415" "0" "c.415C>T" "r.(?)" "p.(Arg139*)" "" "0000880051" "00024048" "70" "250" "0" "250" "0" "c.250C>T" "r.(?)" "p.(His84Tyr)" "" "0000880052" "00024048" "70" "110" "0" "110" "0" "c.110A>G" "r.(?)" "p.(Tyr37Cys)" "" "0000880053" "00024048" "70" "724" "0" "724" "0" "c.724G>T" "r.(?)" "p.(Ala242Ser)" "" "0000880054" "00024048" "70" "1225" "0" "1226" "0" "c.1225_1226del" "r.(?)" "p.(Gly409Argfs*5)" "" "0000880055" "00024048" "70" "155" "0" "155" "0" "c.155G>A" "r.(?)" "p.(Gly52Asp)" "" "0000880056" "00024048" "70" "792" "0" "792" "0" "c.792T>A" "r.(?)" "p.(Tyr264*)" "" "0000880057" "00024048" "70" "429" "0" "434" "0" "c.429_434delinsTT" "r.(?)" "p.(Phe144Leufs*14)" "" "0000880058" "00024048" "70" "429" "0" "434" "0" "c.429_434delinsTT" "r.(?)" "p.(Phe144Leufs*14)" "" "0000880059" "00024048" "70" "281" "0" "281" "0" "c.281del" "r.(?)" "p.(Phe94Serfs*9)" "" "0000880060" "00024048" "70" "281" "0" "281" "0" "c.281del" "r.(?)" "p.(Phe94Serfs*9)" "" "0000880061" "00024048" "70" "281" "0" "281" "0" "c.281del" "r.(?)" "p.(Phe94Serfs*9)" "" "0000880084" "00024048" "70" "429" "0" "434" "0" "c.429_434delinsTT" "r.(?)" "p.(Phe144Leufs*14)" "" "0000880085" "00024048" "70" "281" "0" "281" "0" "c.281del" "r.(?)" "p.(Phe94Serfs*9)" "" "0000880086" "00024048" "70" "429" "0" "434" "0" "c.429_434delinsTT" "r.(?)" "p.(Phe144Leufs*14)" "" "0000880087" "00024048" "70" "281" "0" "281" "0" "c.281del" "r.(?)" "p.(Phe94Serfs*9)" "" "0000880088" "00024048" "70" "830" "0" "830" "0" "c.830T>C" "r.(?)" "p.(Leu277Pro)" "" "0000880089" "00024048" "70" "281" "0" "281" "0" "c.281del" "r.(?)" "p.(Phe94Serfs*9)" "" "0000880090" "00024048" "70" "281" "0" "281" "0" "c.281del" "r.(?)" "p.(Phe94Serfs*9)" "" "0000880091" "00024048" "70" "281" "0" "281" "0" "c.281del" "r.(?)" "p.(Phe94Serfs*9)" "" "0000880092" "00024048" "70" "281" "0" "281" "0" "c.281del" "r.(?)" "p.(Phe94Serfs*9)" "" "0000880093" "00024048" "70" "110" "0" "110" "0" "c.110A>G" "r.(?)" "p.(Tyr37Cys)" "" "0000880094" "00024048" "70" "110" "0" "110" "0" "c.110A>G" "r.(?)" "p.(Tyr37Cys)" "" "0000880095" "00024048" "70" "169" "0" "169" "0" "c.169A>G" "r.(?)" "p.(Thr57Ala)" "" "0000880096" "00024048" "70" "429" "0" "434" "0" "c.429_434delinsTT" "r.(?)" "p.(Phe144Leufs*14)" "" "0000880097" "00024048" "70" "429" "0" "434" "0" "c.429_434delinsTT" "r.(?)" "p.(Phe144Leufs*14)" "" "0000880098" "00024048" "70" "431" "0" "441" "0" "c.431_441delTTAGTAGTACT" "r.(?)" "p.(Phe144Serfs*9)" "" "0000880099" "00024048" "70" "876" "0" "877" "0" "c.876_877insCCTG" "r.(?)" "p.(Cys293Profs*35)" "" "0000880100" "00024048" "70" "1034" "0" "1034" "0" "c.1034G>A" "r.(?)" "p.(Gly345Glu)" "" "0000880101" "00024048" "70" "464" "0" "464" "0" "c.464G>T" "r.(?)" "p.(Arg155Leu)" "" "0000880102" "00024048" "70" "1015" "0" "1015" "0" "c.1015A>G" "r.(?)" "p.(Ile339Val)" "" "0000880104" "00024048" "30" "1549" "0" "1549" "0" "c.1549C>T" "r.(?)" "p.(Arg517Cys)" "" "0000880105" "00024048" "70" "724" "0" "724" "0" "c.724G>T" "r.(?)" "p.(Ala242Ser)" "" "0000880106" "00024048" "70" "724" "0" "724" "0" "c.724G>T" "r.(?)" "p.(Ala242Ser)" "" "0000880107" "00024048" "70" "724" "0" "724" "0" "c.724G>T" "r.(?)" "p.(Ala242Ser)" "" "0000880108" "00024048" "70" "724" "0" "724" "0" "c.724G>T" "r.(?)" "p.(Ala242Ser)" "" "0000880120" "00024048" "10" "" "0" "" "0" "c.53>C>T" "r.(?)" "p.(Ile178=)" "" "0000880121" "00024048" "70" "985" "16" "985" "16" "c.985+16T>G" "r.(?)" "p.?" "" "0000880122" "00024048" "10" "985" "33" "985" "33" "c.985+33G>C" "r.(?)" "p.?" "" "0000880123" "00024048" "70" "986" "-29" "986" "-29" "c.986-29A>T" "r.(?)" "p.?" "" "0000880124" "00024048" "10" "1161" "58" "1161" "58" "c.1161+58A>G" "r.(?)" "p.?" "" "0000880125" "00024048" "70" "1595" "0" "1595" "0" "c.1595G>T" "r.(?)" "p.(Gly532Val)" "" "0000880155" "00024048" "70" "1015" "0" "1015" "0" "c.1015A>G" "r.(?)" "p.(Ile339Val)" "" "0000880156" "00024048" "70" "724" "0" "724" "0" "c.724G>T" "r.(?)" "p.(Ala242Ser)" "" "0000880159" "00024048" "70" "1184" "0" "1184" "0" "c.1184A>G" "r.(?)" "p.(His395Arg)" "" "0000880160" "00024048" "70" "1184" "0" "1184" "0" "c.1184A>G" "r.(?)" "p.(His395Arg)" "" "0000880164" "00024048" "90" "1436" "0" "1436" "0" "c.1436C>G" "r.(?)" "p.(Ser479*)" "" "0000880185" "00024048" "10" "117" "0" "117" "0" "c.117C>T" "r.(?)" "p.(=)" "" "0000880186" "00024048" "10" "534" "0" "534" "0" "c.534C>T" "r.(?)" "p.(=)" "" "0000880187" "00024048" "10" "985" "33" "985" "33" "c.985+33G>C" "r.(?)" "p.(=)" "" "0000880188" "00024048" "10" "985" "16" "985" "16" "c.985+16T>G" "r.(?)" "p.(=)" "" "0000880189" "00024048" "10" "986" "-29" "986" "-29" "c.986-29A>T" "r.(?)" "p.(=)" "" "0000880190" "00024048" "10" "1595" "0" "1595" "0" "c.1595G>T" "r.(?)" "p.(Gly532Val)" "" "0000880191" "00024048" "10" "1549" "0" "1549" "0" "c.1549C>T" "r.(?)" "p.(Arg517Cys)" "" "0000880201" "00024048" "70" "707" "0" "707" "0" "c.707C>A" "r.(?)" "p.(Ser236*)" "" "0000880202" "00024048" "70" "871" "0" "871" "0" "c.871G>T" "r.(?)" "p.(Val291Phe)" "" "0000880206" "00024048" "70" "775" "0" "775" "0" "c.775del" "r.(?)" "p.(Thr259Leufs*21)" "" "0000880207" "00024048" "70" "775" "0" "775" "0" "c.775del" "r.(?)" "p.(Thr259Leufs*21)" "" "0000880208" "00024048" "70" "287" "0" "287" "0" "c.287C>T" "r.(?)" "p.(Ala96Val)" "" "0000880209" "00024048" "70" "287" "0" "287" "0" "c.287C>T" "r.(?)" "p.(Ala96Val)" "" "0000895207" "00024048" "50" "1184" "0" "1184" "0" "c.1184A>G" "r.(?)" "p.(His395Arg)" "" "0000895208" "00024048" "50" "1175" "0" "1175" "0" "c.1175C>T" "r.(?)" "p.(Thr392Met)" "" "0000895209" "00024048" "30" "1161" "16" "1161" "16" "c.1161+16del" "r.(=)" "p.(=)" "" "0000895210" "00024048" "30" "985" "10" "985" "10" "c.985+10A>C" "r.(=)" "p.(=)" "" "0000900027" "00024048" "70" "986" "-1" "986" "-1" "c.986-1G>A" "r.spl" "p.?" "" "0000900028" "00024048" "70" "986" "-1" "986" "-1" "c.986-1G>A" "r.spl" "p.?" "" "0000900029" "00024048" "70" "518" "0" "518" "0" "c.518A>C" "r.(?)" "p.(His173Pro)" "" "0000900030" "00024048" "70" "518" "0" "518" "0" "c.518A>C" "r.(?)" "p.(His173Pro)" "" "0000900031" "00024048" "70" "518" "0" "518" "0" "c.518A>C" "r.(?)" "p.(His173Pro)" "" "0000900032" "00024048" "70" "589" "0" "589" "0" "c.589G>T" "r.(?)" "p.(Gly197*)" "" "0000915338" "00024048" "30" "822" "0" "822" "0" "c.822C>T" "r.(?)" "p.(Asp274=)" "" "0000951390" "00024048" "70" "830" "0" "830" "0" "c.830T>C" "r.(?)" "p.(Leu277Pro)" "" "0000958085" "00024048" "90" "110" "0" "110" "0" "c.110A>G" "r.(?)" "p.(Tyr37Cys)" "" "0000958955" "00024048" "90" "830" "0" "830" "0" "c.830T>C" "r.(?)" "p.(Leu277Pro)" "" "0000959394" "00024048" "50" "803" "0" "803" "0" "c.803T>G" "r.(?)" "p.(Leu268Arg)" "" "0000983719" "00024048" "50" "1160" "0" "1160" "0" "c.1160A>G" "r.(?)" "p.(Lys387Arg)" "" "0000983720" "00024048" "90" "1046" "0" "1047" "0" "c.1046_1047del" "r.(?)" "p.(Asp349Glyfs*17)" "" "0000983721" "00024048" "50" "1039" "0" "1039" "0" "c.1039G>T" "r.(?)" "p.(Val347Leu)" "" "0000983722" "00024048" "30" "1015" "0" "1015" "0" "c.1015A>G" "r.(?)" "p.(Ile339Val)" "" "0000983723" "00024048" "10" "985" "16" "985" "16" "c.985+16T>G" "r.(=)" "p.(=)" "" "0001005252" "00024048" "70" "461" "0" "461" "0" "c.461T>G" "r.(?)" "p.(Val154Gly)" "" "0001005253" "00024048" "30" "-477" "0" "-477" "0" "c.-477G>T" "r.(?)" "p.(=)" "" "0001027287" "00024048" "50" "1410" "0" "1410" "0" "c.1410T>A" "r.(?)" "p.(=)" "" "0001043247" "00024048" "50" "871" "0" "871" "0" "c.871G>A" "r.(?)" "p.(Val291Ile)" "" "0001043248" "00024048" "50" "7" "0" "7" "0" "c.7C>T" "r.(?)" "p.(Arg3Cys)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 227 "{{screeningid}}" "{{variantid}}" "0000060191" "0000091162" "0000060191" "0000091163" "0000166105" "0000370537" "0000277472" "0000638714" "0000294031" "0000650720" "0000294032" "0000650721" "0000294033" "0000650722" "0000310784" "0000685766" "0000310786" "0000685778" "0000310787" "0000685784" "0000310788" "0000685788" "0000310790" "0000685795" "0000319190" "0000701854" "0000333410" "0000731036" "0000334590" "0000732511" "0000335315" "0000733324" "0000335315" "0000733710" "0000335316" "0000733325" "0000360037" "0000759702" "0000360201" "0000760031" "0000360209" "0000760065" "0000360214" "0000760087" "0000360217" "0000760099" "0000364875" "0000765817" "0000376619" "0000788436" "0000381572" "0000795043" "0000381578" "0000795052" "0000383539" "0000797694" "0000383539" "0000797695" "0000383777" "0000798030" "0000384110" "0000798544" "0000384111" "0000798547" "0000384112" "0000798549" "0000384114" "0000798554" "0000384282" "0000810851" "0000384282" "0000810852" "0000384282" "0000810853" "0000384305" "0000810901" "0000384305" "0000810902" "0000384305" "0000810903" "0000384337" "0000810953" "0000384337" "0000810954" "0000384338" "0000810955" "0000384339" "0000810956" "0000384340" "0000810957" "0000384357" "0000810976" "0000384373" "0000810992" "0000384373" "0000810993" "0000384378" "0000810998" "0000384378" "0000810999" "0000384437" "0000811087" "0000384462" "0000811122" "0000384463" "0000811123" "0000384463" "0000811124" "0000384464" "0000811125" "0000384509" "0000811206" "0000384510" "0000811208" "0000384511" "0000811211" "0000384519" "0000811221" "0000384520" "0000811223" "0000384546" "0000811258" "0000384547" "0000811259" "0000384554" "0000811269" "0000384569" "0000811287" "0000384570" "0000811288" "0000384584" "0000811308" "0000384584" "0000811309" "0000384585" "0000811310" "0000384586" "0000811313" "0000384587" "0000811316" "0000384591" "0000811322" "0000384593" "0000811328" "0000384594" "0000811331" "0000384595" "0000811333" "0000384598" "0000811339" "0000384691" "0000811456" "0000384888" "0000811707" "0000385904" "0000813071" "0000385904" "0000813072" "0000385905" "0000813073" "0000385905" "0000813074" "0000385906" "0000813075" "0000385930" "0000813112" "0000385931" "0000813113" "0000385932" "0000813114" "0000385933" "0000813115" "0000385939" "0000813128" "0000385949" "0000813148" "0000385954" "0000813159" "0000386049" "0000813289" "0000386050" "0000813292" "0000386053" "0000813298" "0000386411" "0000813916" "0000386469" "0000814002" "0000386476" "0000814014" "0000386486" "0000814030" "0000386486" "0000814031" "0000386514" "0000814061" "0000386514" "0000814073" "0000386535" "0000814102" "0000386535" "0000814103" "0000386575" "0000814170" "0000386576" "0000814171" "0000386577" "0000814172" "0000386578" "0000814173" "0000386590" "0000814195" "0000386599" "0000814214" "0000386605" "0000814229" "0000386812" "0000814564" "0000386828" "0000814583" "0000386829" "0000814584" "0000386848" "0000814626" "0000387176" "0000815051" "0000387176" "0000815052" "0000387177" "0000815053" "0000387177" "0000815054" "0000387178" "0000815056" "0000387178" "0000815057" "0000388670" "0000817398" "0000388701" "0000817443" "0000388702" "0000817444" "0000388814" "0000817572" "0000388815" "0000817573" "0000388819" "0000817577" "0000389380" "0000818392" "0000389380" "0000818393" "0000389557" "0000818652" "0000389558" "0000818653" "0000389559" "0000818654" "0000392456" "0000822756" "0000392618" "0000822961" "0000393550" "0000824323" "0000393996" "0000824889" "0000393997" "0000824890" "0000395603" "0000826991" "0000395723" "0000827121" "0000395723" "0000827122" "0000395724" "0000827123" "0000395724" "0000827124" "0000396805" "0000828484" "0000396812" "0000828494" "0000396821" "0000828507" "0000397443" "0000829417" "0000397824" "0000830034" "0000397824" "0000830035" "0000397826" "0000830036" "0000397826" "0000830037" "0000397828" "0000830038" "0000397828" "0000830039" "0000397830" "0000830040" "0000397830" "0000830041" "0000408908" "0000845917" "0000413756" "0000871295" "0000418823" "0000878690" "0000418824" "0000878691" "0000418825" "0000878692" "0000418826" "0000878693" "0000418827" "0000878694" "0000419134" "0000879061" "0000419878" "0000880051" "0000419878" "0000880053" "0000419879" "0000880052" "0000419879" "0000880054" "0000419880" "0000880055" "0000419880" "0000880056" "0000419881" "0000880057" "0000419882" "0000880058" "0000419883" "0000880059" "0000419884" "0000880060" "0000419885" "0000880061" "0000419901" "0000880084" "0000419901" "0000880085" "0000419902" "0000880086" "0000419902" "0000880087" "0000419903" "0000880088" "0000419903" "0000880089" "0000419904" "0000880090" "0000419905" "0000880091" "0000419906" "0000880092" "0000419907" "0000880093" "0000419908" "0000880094" "0000419909" "0000880095" "0000419910" "0000880096" "0000419911" "0000880097" "0000419912" "0000880098" "0000419913" "0000880099" "0000419914" "0000880100" "0000419915" "0000880101" "0000419916" "0000880102" "0000419917" "0000880104" "0000419918" "0000880105" "0000419919" "0000880106" "0000419920" "0000880107" "0000419921" "0000880108" "0000419926" "0000880120" "0000419927" "0000880121" "0000419928" "0000880122" "0000419929" "0000880123" "0000419930" "0000880124" "0000419931" "0000880125" "0000419933" "0000880155" "0000419933" "0000880156" "0000419936" "0000880159" "0000419937" "0000880160" "0000419940" "0000880164" "0000419961" "0000880185" "0000419962" "0000880186" "0000419963" "0000880187" "0000419964" "0000880188" "0000419965" "0000880189" "0000419966" "0000880190" "0000419967" "0000880191" "0000419975" "0000880201" "0000419975" "0000880202" "0000419978" "0000880206" "0000419979" "0000880207" "0000419980" "0000880208" "0000419981" "0000880209" "0000423987" "0000900027" "0000423988" "0000900028" "0000423989" "0000900029" "0000423990" "0000900030" "0000423991" "0000900031" "0000423992" "0000900032" "0000448599" "0000958085" "0000449188" "0000958955" "0000449188" "0000959394"