### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ARL6) # 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}}" "ARL6" "ADP-ribosylation factor-like 6" "3" "q11.2" "unknown" "NG_008119.2" "UD_132085234172" "" "https://www.LOVD.nl/ARL6" "" "1" "13210" "84100" "608845" "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/ARL6_NM_001278293.1_codingDNA.html" "1" "" "This database is one of the \"Eye disease\" gene variant databases." "-1" "" "-1" "00001" "2010-04-29 00:00:00" "00006" "2022-02-27 17:13:59" "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}}" "00025698" "ARL6" "transcript variant 3" "004" "NM_001278293.1" "" "NP_001265222.1" "" "" "" "-484" "1047" "561" "97483365" "97517379" "00006" "2022-02-27 16:18:37" "" "" ## 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" "00381" "RD" "dystrophy, retinal (RD)" "" "" "" "" "" "00006" "2014-05-09 11:59:52" "00006" "2015-12-07 07:11:25" "00888" "RP55" "retinitis pigmentosa, type 55 (RP55)" "" "613575" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-04-09 15:05:56" "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" "04364" "BBS3" "Bardet-Biedl syndrome, type 3 (BBS-3)" "AR" "600151" "" "" "" "00000" "2015-09-23 10:25:22" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{geneid}}" "{{diseaseid}}" "ARL6" "00139" "ARL6" "00888" "ARL6" "04212" "ARL6" "04364" ## Individuals ## Do not remove or alter this header ## ## Count = 72 "{{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}}" "00033156" "" "" "" "1" "" "00229" "" "" "F" "" "" "" "0" "" "" "" "" "00063828" "" "" "" "1" "" "01424" "" "" "M" "yes" "Pakistan" "" "0" "" "" "" "" "00063829" "" "" "" "1" "" "01424" "" "" "M" "yes" "Pakistan" "" "0" "" "" "" "" "00095951" "" "" "" "1" "" "01769" "{PMID:Li 2017:28418496}" "" "M" "yes" "Pakistan" "" "0" "" "" "Pakistani" "61049" "00232398" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00240423" "" "" "" "1" "" "03335" "" "" "M" "" "Mexico" "" "0" "" "" "" "" "00293487" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00308951" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" "" "00325424" "" "" "" "1" "" "00006" "{PMID:Zenteno 2020:31736247}" "family" "" "" "Mexico" "" "0" "" "" "" "1521" "00327919" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "B240028" "00335456" "" "" "" "1" "" "00000" "{PMID:Biswas 2017:28130426}" "" "" "" "Iraq" "" "0" "" "" "" "RF.S.0711" "00358804" "" "" "" "1" "" "00000" "{PMID:Lindstrand 2016:27486776}" "" "M" "no" "United States" "" "0" "" "" "" "DM034-004" "00358805" "" "" "" "1" "" "00000" "{PMID:Lindstrand 2016:27486776}" "" "M" "yes" "United States" "" "0" "" "" "" "KK11-04" "00358939" "" "" "" "1" "" "00006" "{PMID:Sundaramurthy 2016:27383656}" "4-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "F" "yes" "India" "" "0" "" "" "" "Fam03" "00358964" "" "" "" "1" "" "00000" "{PMID:Tiwari 2016:27353947}" "see paper" "M" "" "Switzerland" "" "0" "" "" "" "Case72007" "00363665" "" "" "" "1" "" "00000" "{PMID:Patel 2016:26355662}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "11DG2051" "00380362" "" "" "" "1" "" "00000" "{PMID:M\'hamdi_2014:23432027}" "" "F" "yes" "Tunisia" "" "0" "" "" "Tunisian" "" "00380363" "" "" "" "1" "" "00000" "{PMID:M\'hamdi_2014:23432027}" "" "M" "yes" "Tunisia" "" "0" "" "" "Tunisian" "" "00382607" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "470" "00383135" "" "" "" "1" "" "00000" "{PMID:Sathya Priya-2015:24400638}" "" "" "" "" "" "0" "" "" "" "" "00383141" "" "" "" "1" "" "00000" "{PMID:Sathya Priya-2015:24400638}" "" "" "" "" "" "0" "" "" "" "" "00383145" "" "" "" "1" "" "00000" "{PMID:Sathya Priya-2015:24400638}" "" "" "" "" "" "0" "" "" "" "" "00383146" "" "" "" "1" "" "00000" "{PMID:Sathya Priya-2015:24400638}" "" "" "" "" "" "0" "" "" "" "" "00383273" "" "" "" "1" "" "00000" "{PMID:Muller-2010:20177705}, {PMID:Stoetzel 2007:17160889}" "" "" "" "" "" "0" "" "" "North Africa" "" "00383320" "" "" "" "1" "" "00000" "{PMID:Pereiro-2010:20142850}" "" "M" "" "Spain" "" "0" "" "" "white" "" "00383321" "" "" "" "1" "" "00000" "{PMID:Pereiro-2010:20142850}" "" "M" "" "Spain" "" "0" "" "" "white" "" "00384603" "" "" "" "1" "" "00000" "{PMID:Jaffal 2019:31888296}" "" "M" "yes" "Lebanon" "" "0" "" "" "" "FB22: II.1" "00384604" "" "" "" "1" "" "00000" "{PMID:Jaffal 2019:31888296}" "" "F" "yes" "Lebanon" "" "0" "" "" "" "FB22: II.2" "00384789" "" "" "" "1" "" "00000" "{PMID:Abu-Safieh-2012:22353939}, Abu-Safieh 2010" "1 unaffected siblings screened" "" "yes" "Saudi Arabia" "" "0" "" "" "Arab" "" "00384790" "" "" "" "1" "" "00000" "{PMID:Abu-Safieh-2012:22353939}, Abu-Safieh 2010" "1 unaffected siblings screened" "" "yes" "Saudi Arabia" "" "0" "" "" "Arab" "" "00384791" "" "" "" "1" "" "00000" "{PMID:Abu-Safieh-2012:22353939}, Abu-Safieh 2010" "1 unaffected siblings screened" "" "yes" "Saudi Arabia" "" "0" "" "" "Arab" "" "00384792" "" "" "" "1" "" "00000" "{PMID:Abu-Safieh-2012:22353939}, Abu-Safieh 2010" "1 unaffected siblings screened" "" "yes" "Saudi Arabia" "" "0" "" "" "Arab" "" "00384793" "" "" "" "1" "" "00000" "{PMID:Abu-Safieh-2012:22353939}, Abu-Safieh 2010" "1 unaffected siblings screened" "" "yes" "Saudi Arabia" "" "0" "" "" "Arab" "" "00384794" "" "" "" "1" "" "00000" "{PMID:Abu-Safieh-2012:22353939}, Abu-Safieh 2010" "2 unaffected siblings screened" "" "yes" "Saudi Arabia" "" "0" "" "" "Arab" "" "00384795" "" "" "" "1" "" "00000" "{PMID:Abu-Safieh-2012:22353939}, Abu-Safieh 2010" "2 unaffected siblings screened" "" "yes" "Saudi Arabia" "" "0" "" "" "Arab" "" "00384796" "" "" "" "1" "" "00000" "{PMID:Abu-Safieh-2012:22353939}, Abu-Safieh 2010" "2 unaffected siblings screened" "" "yes" "Saudi Arabia" "" "0" "" "" "Arab" "" "00384797" "" "" "" "1" "" "00000" "{PMID:Abu-Safieh-2012:22353939}, Abu-Safieh 2010" "2 unaffected siblings screened" "" "yes" "Saudi Arabia" "" "0" "" "" "Arab" "" "00384798" "" "" "" "1" "" "00000" "{PMID:Abu-Safieh-2012:22353939}, Abu-Safieh 2010" "2 unaffected siblings screened" "" "yes" "Saudi Arabia" "" "0" "" "" "Arab" "" "00384820" "" "" "" "1" "" "00000" "{PMID:Abu-Safieh-2012:22353939}, Abu-Safieh 2010" "3 unaffected siblings screened" "" "yes" "Saudi Arabia" "" "0" "" "" "Arab" "" "00384821" "" "" "" "1" "" "00000" "{PMID:Abu-Safieh-2012:22353939}, Abu-Safieh 2010" "3 unaffected siblings screened" "" "yes" "Saudi Arabia" "" "0" "" "" "Arab" "" "00384822" "" "" "" "1" "" "00000" "{PMID:Abu-Safieh-2012:22353939}, Abu-Safieh 2010" "3 unaffected siblings screened" "" "yes" "Saudi Arabia" "" "0" "" "" "Arab" "" "00384830" "" "" "" "1" "" "00000" "{PMID:Abu-Safieh-2012:22353939}, Abu-Safieh 2010" "" "" "yes" "Saudi Arabia" "" "0" "" "" "Arab" "" "00385184" "" "" "" "1" "" "00000" "{PMID:Chen-2011:21642631}" "" "" "" "" "" "0" "" "" "Arabic" "" "00385223" "" "" "" "1" "" "00000" "{PMID:Chen-2011:21642631}" "" "" "" "" "" "0" "" "" "Pakistani" "" "00385226" "" "" "" "1" "" "00000" "{PMID:Redin-2012:22773737}" "" "" "" "Reunion" "" "0" "" "" "" "" "00385236" "" "" "" "1" "" "00000" "{PMID:Redin-2012:22773737}" "" "" "" "Turkey" "" "0" "" "" "" "" "00385620" "" "" "" "1" "" "00000" "{PMID:Xing-2014:24608809}" "" "" "" "" "" "0" "" "" "" "FJ042-II:6" "00385968" "" "" "" "1" "" "00000" "{PMID:Khan-2013:23219996}" "Retinitis pigmentosa" "F" "yes" "Pakistan" "" "0" "" "" "" "" "00385969" "" "" "" "1" "" "00000" "{PMID:Khan-2013:23219996}" "Retinitis pigmentosa" "F" "yes" "Pakistan" "" "0" "" "" "" "" "00385970" "" "" "" "1" "" "00000" "{PMID:Khan-2013:23219996}" "Retinitis pigmentosa" "M" "yes" "Pakistan" "" "0" "" "" "" "" "00385971" "" "" "" "1" "" "00000" "{PMID:Khan-2013:23219996}" "Retinitis pigmentosa" "M" "yes" "Pakistan" "" "0" "" "" "" "" "00385972" "" "" "" "1" "" "00000" "{PMID:Khan-2013:23219996}" "Retinitis pigmentosa" "M" "yes" "Pakistan" "" "0" "" "" "" "" "00385973" "" "" "" "1" "" "00000" "{PMID:Khan-2013:23219996}" "Retinitis pigmentosa" "F" "yes" "Pakistan" "" "0" "" "" "" "" "00385974" "" "" "" "1" "" "00000" "{PMID:Khan-2013:23219996}" "Retinitis pigmentosa" "M" "yes" "Pakistan" "" "0" "" "" "" "" "00388565" "" "" "" "1" "" "00000" "{PMID:Dineiro 2020:32483926}" "" "?" "" "Spain" "" "0" "" "" "" "OFTALMO.046" "00388803" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 44, Bardet-Biedl syndrome, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "87" "00388804" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 44, Bardet-Biedl syndrome, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "88" "00388856" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 61, Bardet-Biedl syndrome, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "140" "00390829" "" "" "" "1" "" "00000" "{PMID:Chandrasekar-2018:29806606}" "These mutations segregated with the disease and the parents were heterozygous for the same" "" "" "India" "" "0" "" "" "Indian" "" "00393826" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "M" "" "" "" "0" "" "" "" "" "00395614" "" "" "" "1" "" "00000" "{PMID:Perea-Romero 2021:34448047}" "" "" "" "Spain" "" "0" "" "" "" "RP-3055" "00404107" "" "" "" "1" "" "00006" "{PMID:Aldahmesh 2009:19956407}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "DGU-F15" "00404115" "" "" "" "1" "" "00006" "{PMID:Chiang 2004:15258860}" "2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "M" "yes" "Israel" "" "0" "" "" "Bedouin" "family" "00404117" "" "" "" "5" "" "00006" "{PMID:Fan 2004:15314642}" "3-generation family, 5 affected (2F, 3M), unaffected heterozygous carrier parents/relatives" "F;M" "yes" "Canada" "" "0" "" "" "Newfoundland" "NF-B2" "00404118" "" "" "" "2" "" "00006" "{PMID:Fan 2004:15314642}" "2-generation family, 2 affected sisters, unaffected heterozygous carrier parents" "F" "yes" "Saudi Arabia" "" "0" "" "" "" "KK29" "00404119" "" "" "" "1" "" "00006" "{PMID:Fan 2004:15314642}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "United States" "" "0" "" "" "" "AR390" "00404120" "" "" "" "3" "" "00006" "{PMID:Fan 2004:15314642}" "3-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents" "F;M" "" "Ireland" "" "0" "" "" "" "PB140" "00412546" "" "" "" "1" "" "00000" "{PMID:Maria 2016:27708425}" "family F01" "M" "yes" "" "35y" "0" "" "" "Pakistani" "F01_IV:2" "00412547" "" "" "" "1" "" "00000" "{PMID:Maria 2016:27708425}" "family F01" "M" "yes" "" "" "0" "" "" "Pakistani" "F01_IV:3" "00418657" "" "" "" "1" "" "00006" "{PMID:Smaoui 2006:16877420}" "" "" "yes" "Tunisia" "" "0" "" "" "" "" "00418658" "" "" "" "1" "" "00006" "{PMID:Smaoui 2006:16877420}" "" "" "yes" "Tunisia" "" "0" "" "" "" "" "00436607" "" "" "" "1" "" "04552" "Villafuerte-de la Cruz RA, et al., 2023. Submitted" "" "F" "yes" "Mexico" "" "" "" "None" "Hispanic" "2694959" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 72 "{{individualid}}" "{{diseaseid}}" "00033156" "04214" "00063828" "04212" "00063829" "04212" "00095951" "04214" "00232398" "04214" "00240423" "00381" "00293487" "00198" "00308951" "04214" "00325424" "04214" "00327919" "04214" "00335456" "04214" "00358804" "04212" "00358805" "04212" "00358939" "04214" "00358964" "04214" "00363665" "04214" "00380362" "04214" "00380363" "04214" "00382607" "04214" "00383135" "04214" "00383141" "04214" "00383145" "04214" "00383146" "04214" "00383273" "04214" "00383320" "04214" "00383321" "04214" "00384603" "04214" "00384604" "04214" "00384789" "04214" "00384790" "04214" "00384791" "04214" "00384792" "04214" "00384793" "04214" "00384794" "04214" "00384795" "04214" "00384796" "04214" "00384797" "04214" "00384798" "04214" "00384820" "04214" "00384821" "04214" "00384822" "04214" "00384830" "04214" "00385184" "04214" "00385223" "04214" "00385226" "04214" "00385236" "04214" "00385620" "04214" "00385968" "04214" "00385969" "04214" "00385970" "04214" "00385971" "04214" "00385972" "04214" "00385973" "04214" "00385974" "04214" "00388565" "04214" "00388803" "04214" "00388804" "04214" "00388856" "04214" "00390829" "04214" "00393826" "04214" "00395614" "04214" "00404107" "04214" "00404115" "04212" "00404117" "04212" "00404118" "04212" "00404119" "04212" "00404120" "04212" "00412546" "04214" "00412547" "04214" "00418657" "04212" "00418658" "04212" "00436607" "04364" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 00381, 00888, 04212, 04214, 04364 ## Count = 67 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000026585" "04214" "00033156" "00229" "Unknown" "09y" "obesity, familial hypercholesterolemia, recurrent cystitis (5y), heart murmur" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000050416" "04212" "00063828" "01424" "Familial, autosomal recessive" "32y" "CRD/RP, Polydactyly, Hypogonadism. Renal parenchymal disease; deceased due to renal failure." "" "" "" "" "" "" "" "" "" "" "" "0000050417" "04212" "00063829" "01424" "Familial, autosomal recessive" "40y" "CRD/RP, Polydactyly, Hypogonadism, no renal disease" "" "" "" "" "" "" "" "" "" "" "" "0000074228" "04214" "00095951" "01769" "Familial, autosomal recessive" "" "progressive RP" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000234271" "04214" "00308951" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "BBS" "" "0000243911" "04214" "00325424" "00006" "Familial, autosomal recessive" "" "retinitis pigmentosa" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000246146" "04214" "00327919" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000253401" "04214" "00335456" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal degeneration" "" "0000254019" "04212" "00358804" "00000" "Unknown" "10y" "see paper; ..." "" "" "" "" "" "" "" "" "" "Bardet-Biedl Syndrome" "" "0000254020" "04212" "00358805" "00000" "Unknown" "17y" "see paper; ..." "" "" "" "" "" "" "" "" "" "Bardet-Biedl Syndrome" "" "0000254238" "04214" "00358939" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000254262" "04214" "00358964" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000259015" "04214" "00363665" "00000" "Familial" "" "non-syndromic" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, cone-rod dystrophy" "" "0000274213" "04214" "00380362" "00000" "Familial, autosomal recessive" "14y" "retinitis pigmentaria" "" "" "" "" "" "" "" "" "" "Bardet–Biedl syndrome" "" "0000274214" "04214" "00380363" "00000" "Familial, autosomal recessive" "4y" "retinitis pigmentaria" "" "" "" "" "" "" "" "" "" "Bardet–Biedl syndrome" "" "0000276456" "04214" "00382607" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000276925" "04214" "00383135" "00000" "Familial, autosomal recessive" "" "obesity, polydactyly" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "0000276931" "04214" "00383141" "00000" "Familial, autosomal recessive" "" "obesity, polydactyly, hypogonadism, learning disability" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "0000276935" "04214" "00383145" "00000" "Familial, autosomal recessive" "" "obesity, polydactyly, learning disability" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "0000276936" "04214" "00383146" "00000" "Familial, autosomal recessive" "" "obesity, polydactyly, hypogonadism, learning disability" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "0000277060" "04214" "00383273" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000277105" "04214" "00383320" "00000" "Familial, autosomal recessive" "" "night blindness, obesity," "5y" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000277106" "04214" "00383321" "00000" "Familial, autosomal recessive" "" "night blindness, obesity, polydactyly (feet)" "5y" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000278393" "04214" "00384603" "00000" "Familial, autosomal recessive" "34y" "Visual acuity: Only hand movement—counting finge" "3y" "5y" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "" "0000278394" "04214" "00384604" "00000" "Familial, autosomal recessive" "28y" "Visual acuity: 20/400–20/4" "3y" "3y" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "" "0000278572" "04214" "00384789" "00000" "Familial, autosomal recessive" "" "obesity, polydactyly, typical facies" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa (RP)" "" "0000278573" "04214" "00384790" "00000" "Familial, autosomal recessive" "" "obesity, polydactyly, typical facies" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa (RP)" "" "0000278574" "04214" "00384791" "00000" "Familial, autosomal recessive" "" "obesity, deafness, typical facies" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa (RP)" "" "0000278575" "04214" "00384792" "00000" "Familial, autosomal recessive" "" "obesity, polydactyly, typical facies" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa (RP)" "" "0000278576" "04214" "00384793" "00000" "Familial, autosomal recessive" "" "obesity, polydactyly, typical facies" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa (RP)" "" "0000278577" "04214" "00384794" "00000" "Familial, autosomal recessive" "" "obesity, learning disabilities, polydactyly, typical facies, hypogenitalism" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa (RP)" "" "0000278578" "04214" "00384795" "00000" "Familial, autosomal recessive" "" "obesity, learning disabilities, typical facies" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa (RP)" "" "0000278579" "04214" "00384796" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa (RP)" "" "0000278580" "04214" "00384797" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa (RP)" "" "0000278581" "04214" "00384798" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa (RP)" "" "0000278603" "04214" "00384820" "00000" "Familial, autosomal recessive" "" "obesity, polydactyly, typical facies, hypogenitalism" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa (RP)" "" "0000278604" "04214" "00384821" "00000" "Familial, autosomal recessive" "" "obesity, polydactyly, typical facies" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa (RP)" "" "0000278605" "04214" "00384822" "00000" "Familial, autosomal recessive" "" "obesity, polydactyly, typical facies" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa (RP)" "" "0000278613" "04214" "00384830" "00000" "Familial, autosomal recessive" "" "obesity, mental retardation, polydactyly, typical facies, hypogenitalism" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa (RP)" "" "0000278980" "04214" "00385184" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000279019" "04214" "00385223" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000279022" "04214" "00385226" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000279032" "04214" "00385236" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000279415" "04214" "00385620" "00000" "Familial, autosomal recessive" "" "retinitis pigmentosa, obesity, polydactyly, typical fundus of bone-spicule hyperpigmentation and attenuated arteries." "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "0000279769" "04214" "00385968" "00000" "Familial, autosomal recessive" "38y" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl syndrome" "" "0000279770" "04214" "00385969" "00000" "Familial, autosomal recessive" "35y" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl syndrome" "" "0000279771" "04214" "00385970" "00000" "Familial, autosomal recessive" "32y" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl syndrome" "" "0000279772" "04214" "00385971" "00000" "Familial, autosomal recessive" "26y" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl syndrome" "" "0000279773" "04214" "00385972" "00000" "Familial, autosomal recessive" "19y" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl syndrome" "" "0000279774" "04214" "00385973" "00000" "Familial, autosomal recessive" "16y" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl syndrome" "" "0000279775" "04214" "00385974" "00000" "Familial, autosomal recessive" "12y" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl syndrome" "" "0000282105" "04214" "00388565" "00000" "Familial, autosomal recessive" "" "Non‐syndrom" "" "18y" "" "" "" "" "" "" "Retinitis pigmentosa type 55" "Retinitis pigmentosa" "" "0000282344" "04214" "00388803" "00000" "Familial, autosomal recessive" "29y" "age at genetic diagnosis mentioned" "" "23y" "" "" "" "" "" "" "Bardet-Biedl syndrome" "" "" "0000282345" "04214" "00388804" "00000" "Familial, autosomal recessive" "20y" "age at genetic diagnosis mentioned" "" "14y" "" "" "" "" "" "" "Bardet-Biedl syndrome" "" "" "0000282397" "04214" "00388856" "00000" "Familial, autosomal recessive" "19y" "age at genetic diagnosis mentioned" "" "17y" "" "" "" "" "" "" "Bardet-Biedl syndrome" "" "" "0000284317" "04214" "00390829" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl syndrome" "" "0000287032" "04214" "00393826" "00000" "Isolated (sporadic)" "10y" "" "" "" "" "" "" "" "" "" "" "Cone-rod Dystrophy (CORD)" "" "0000288812" "04214" "00395614" "00000" "Familial, autosomal dominant" "" "cataract, glaucoma, rod-cone dystrophy, severe myopia, conductive hearing impairment, intellectual disability, renal atrophy, renal insufficiency" "" "" "" "" "" "" "" "" "retinitis pigmentosa, intellectual disability, renal abnormalities" "" "" "0000296696" "04214" "00404107" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000296704" "04212" "00404115" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "BBS3" "Bardet-Biedl syndrome" "" "0000296706" "04212" "00404117" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "BBS3" "Bardet-Biedl syndrome" "" "0000296707" "04212" "00404118" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "BBS3" "Bardet-Biedl syndrome" "" "0000296708" "04212" "00404119" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "BBS3" "Bardet-Biedl syndrome" "" "0000296709" "04212" "00404120" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "BBS3" "Bardet-Biedl syndrome" "" "0000304541" "04214" "00412546" "00000" "Familial, autosomal recessive" "32y" "body mass index: not determined; retinal degeneration; polydactyly; obesity: not determined; no intellectual disability; hypogonadism; renal anomalies: renal parenchymal disease; deceased due to renal failure; additional features: not available" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "" "" "0000304542" "04214" "00412547" "00000" "Familial, autosomal recessive" "40y" "body mass index: not determined; retinal degeneration; polydactyly; obesity: not determined; no intellectual disability; hypogonadism; renal anomalies: none; additional features: elevated liver enzymes, abnormal electrocardiogram, gynaecomastia" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "" "" "0000326754" "04364" "00436607" "04552" "Familial, autosomal recessive" "09y" "Obesity HP:0001513, Postaxial polydactyly HP:0100259, Intellectual disability HP:0001249, Hypogonadism HP:0000135, Acanthosis nigricans HP:0000956, Reduced visual acuity HP:0007663, Nyctalopia HP:0000662, Peripheral visual field loss HP:0007994, Retinitis pigmentosa HP:0000510" "09y" "34y" "" "" "" "" "" "" "# 600151" "Retinitis pigmentosa" "" ## Screenings ## Do not remove or alter this header ## ## Count = 72 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000033224" "00033156" "1" "00229" "00229" "2012-02-04 14:28:42" "00006" "2012-05-18 13:59:33" "SEQ;SEQ-NG-S" "DNA" "" "" "0000063959" "00063828" "1" "01424" "01424" "2016-04-18 14:32:55" "" "" "SEQ" "DNA" "" "" "0000063960" "00063829" "1" "01424" "01424" "2016-04-18 18:20:47" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000096354" "00095951" "1" "01769" "01769" "2017-01-26 22:01:16" "" "" "SEQ" "DNA" "WBC" "" "0000233497" "00232398" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000241533" "00240423" "1" "03335" "00008" "2019-06-20 17:48:49" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000294655" "00293487" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000310096" "00308951" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000326635" "00325424" "1" "00006" "00006" "2021-01-03 11:36:11" "" "" "SEQ;SEQ-NG" "DNA" "" "199 gene panel" "0000329134" "00327919" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WES" "0000336685" "00335456" "1" "00000" "00006" "2021-03-05 19:30:17" "" "" "SEQ-NG" "DNA" "" "WES" "0000360034" "00358804" "1" "00000" "00006" "2021-03-12 18:57:14" "" "" "arrayCGH;PCRlr;SEQ-NG" "DNA" "" "" "0000360035" "00358805" "1" "00000" "00006" "2021-03-12 18:57:14" "" "" "arrayCGH;PCRlr;SEQ-NG" "DNA" "" "" "0000360172" "00358939" "1" "00006" "00006" "2021-03-17 16:44:10" "" "" "SEQ" "DNA" "" "" "0000360201" "00358964" "1" "00000" "00006" "2021-03-18 12:15:00" "" "" "SEQ-NG" "DNA" "" "WES" "0000364893" "00363665" "1" "00000" "00006" "2021-04-29 16:11:05" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000381576" "00380362" "1" "00000" "00008" "2021-08-13 14:56:11" "" "" "SEQ" "DNA" "blood" "" "0000381577" "00380363" "1" "00000" "00008" "2021-08-13 14:56:11" "" "" "SEQ" "DNA" "blood" "" "0000383821" "00382607" "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" "0000384359" "00383135" "1" "00000" "00008" "2021-09-23 02:25:49" "" "" "arraySNP;PCR" "DNA;RNA" "blood" "" "0000384365" "00383141" "1" "00000" "00008" "2021-09-23 02:25:49" "" "" "arraySNP;PCR" "DNA;RNA" "blood" "" "0000384369" "00383145" "1" "00000" "00008" "2021-09-23 02:25:49" "" "" "arraySNP;PCR" "DNA;RNA" "blood" "" "0000384370" "00383146" "1" "00000" "00008" "2021-09-23 02:25:49" "" "" "arraySNP;PCR" "DNA;RNA" "blood" "" "0000384497" "00383273" "1" "00000" "00008" "2021-09-28 01:33:29" "" "" "SEQ" "DNA" "blood" "" "0000384544" "00383320" "1" "00000" "00008" "2021-09-29 07:02:49" "" "" "PE;arraySNP" "DNA" "blood" "" "0000384545" "00383321" "1" "00000" "00008" "2021-09-29 07:02:49" "" "" "PE;arraySNP" "DNA" "blood" "" "0000385830" "00384603" "1" "00000" "03840" "2021-10-01 12:53:59" "" "" "SEQ-NG-I" "DNA" "blood" "WES" "0000385831" "00384604" "1" "00000" "03840" "2021-10-01 12:53:59" "" "" "SEQ-NG-I" "DNA" "blood" "WES" "0000386015" "00384789" "1" "00000" "00008" "2021-10-05 15:28:49" "" "" "arraySNP;SEQ;RT-PCR" "DNA;RNA" "blood" "" "0000386016" "00384790" "1" "00000" "00008" "2021-10-05 15:28:49" "" "" "arraySNP;SEQ;RT-PCR" "DNA;RNA" "blood" "" "0000386017" "00384791" "1" "00000" "00008" "2021-10-05 15:28:49" "" "" "arraySNP;SEQ;RT-PCR" "DNA;RNA" "blood" "" "0000386018" "00384792" "1" "00000" "00008" "2021-10-05 15:28:49" "" "" "arraySNP;SEQ;RT-PCR" "DNA;RNA" "blood" "" "0000386019" "00384793" "1" "00000" "00008" "2021-10-05 15:28:49" "" "" "arraySNP;SEQ;RT-PCR" "DNA;RNA" "blood" "" "0000386020" "00384794" "1" "00000" "00008" "2021-10-05 15:28:49" "" "" "arraySNP;SEQ;RT-PCR" "DNA;RNA" "blood" "" "0000386021" "00384795" "1" "00000" "00008" "2021-10-05 15:28:49" "" "" "arraySNP;SEQ;RT-PCR" "DNA;RNA" "blood" "" "0000386022" "00384796" "1" "00000" "00008" "2021-10-05 15:28:49" "" "" "arraySNP;SEQ;RT-PCR" "DNA;RNA" "blood" "" "0000386023" "00384797" "1" "00000" "00008" "2021-10-05 15:28:49" "" "" "arraySNP;SEQ;RT-PCR" "DNA;RNA" "blood" "" "0000386024" "00384798" "1" "00000" "00008" "2021-10-05 15:28:49" "" "" "arraySNP;SEQ;RT-PCR" "DNA;RNA" "blood" "" "0000386046" "00384820" "1" "00000" "00008" "2021-10-05 15:28:49" "" "" "arraySNP;SEQ;RT-PCR" "DNA;RNA" "blood" "" "0000386047" "00384821" "1" "00000" "00008" "2021-10-05 15:28:49" "" "" "arraySNP;SEQ;RT-PCR" "DNA;RNA" "blood" "" "0000386048" "00384822" "1" "00000" "00008" "2021-10-05 15:28:49" "" "" "arraySNP;SEQ;RT-PCR" "DNA;RNA" "blood" "" "0000386056" "00384830" "1" "00000" "00008" "2021-10-05 15:28:49" "" "" "arraySNP;SEQ;RT-PCR" "DNA;RNA" "blood" "" "0000386413" "00385184" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "SEQ" "DNA" "blood" "" "0000386452" "00385223" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "SEQ" "DNA" "blood" "" "0000386455" "00385226" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "arrayCNV;SEQ" "DNA" "blood" "" "0000386465" "00385236" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "arrayCNV;SEQ" "DNA" "blood" "" "0000386849" "00385620" "1" "00000" "00008" "2021-10-13 10:28:12" "" "" "SEQ-NG" "DNA" "" "TES" "0000387196" "00385968" "1" "00000" "00008" "2021-10-19 12:24:34" "" "" "PCR" "DNA" "blood" "" "0000387197" "00385969" "1" "00000" "00008" "2021-10-19 12:24:34" "" "" "PCR" "DNA" "blood" "" "0000387198" "00385970" "1" "00000" "00008" "2021-10-19 12:24:34" "" "" "PCR" "DNA" "blood" "" "0000387199" "00385971" "1" "00000" "00008" "2021-10-19 12:24:34" "" "" "PCR" "DNA" "blood" "" "0000387200" "00385972" "1" "00000" "00008" "2021-10-19 12:24:34" "" "" "PCR" "DNA" "blood" "" "0000387201" "00385973" "1" "00000" "00008" "2021-10-19 12:24:34" "" "" "PCR" "DNA" "blood" "" "0000387202" "00385974" "1" "00000" "00008" "2021-10-19 12:24:34" "" "" "PCR" "DNA" "blood" "" "0000389807" "00388565" "1" "00000" "03840" "2021-11-04 19:02:37" "" "" "SEQ-NG-I;SEQ" "DNA" "blood;saliva" "targeted sequencing with 1 of 4 panels of OFTALMOgenics probes" "0000390046" "00388803" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET3 targeted sequencing panel - see paper" "0000390047" "00388804" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ" "DNA" "blood" "Sanger sequencing" "0000390099" "00388856" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET8 targeted sequencing panel - see paper" "0000392070" "00390829" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "PCR;SEQ" "DNA" "blood" "" "0000395074" "00393826" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG" "DNA" "" "hereditary eye disease enrichment panel (HEDEP)" "0000396852" "00395614" "1" "00000" "03840" "2021-12-08 14:12:08" "" "" "?" "DNA" "" "clinical exome sequencing" "0000405345" "00404107" "1" "00006" "00006" "2022-02-27 17:17:27" "" "" "arraySNP;SEQ" "DNA" "" "" "0000405353" "00404115" "1" "00006" "00006" "2022-02-27 20:02:59" "" "" "arraySNP;SEQ" "DNA" "" "" "0000405355" "00404117" "1" "00006" "00006" "2022-02-27 20:43:24" "" "" "arraySNP;SEQ" "DNA" "" "" "0000405356" "00404118" "1" "00006" "00006" "2022-02-27 20:46:37" "" "" "SEQ" "DNA" "" "" "0000405357" "00404119" "1" "00006" "00006" "2022-02-27 20:50:02" "" "" "SEQ" "DNA" "" "" "0000405358" "00404120" "1" "00006" "00006" "2022-02-27 20:54:19" "" "" "SEQ" "DNA" "" "" "0000413816" "00412546" "1" "00000" "03840" "2022-06-30 13:58:35" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "targeted mutation screening, targated exome sequencing of BBS genes; whole exome sequencing" "0000413817" "00412547" "1" "00000" "03840" "2022-06-30 13:58:35" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "targeted mutation screening, targated exome sequencing of BBS genes; whole exome sequencing" "0000419951" "00418657" "1" "00006" "00006" "2022-10-03 16:24:08" "" "" "SEQ" "DNA" "" "" "0000419952" "00418658" "1" "00006" "00006" "2022-10-03 16:24:08" "" "" "SEQ" "DNA" "" "" "0000438091" "00436607" "1" "04552" "04552" "2023-09-23 06:16:00" "" "" "SEQ-NG-I" "RNA" "Buccal swab" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 72 "{{screeningid}}" "{{geneid}}" "0000033224" "ARL6" "0000033224" "IMPDH1" "0000033224" "RPGRIP1" "0000063959" "ARL6" "0000063960" "ARL6" "0000096354" "ARL6" "0000233497" "ARL6" "0000241533" "ARL6" "0000310096" "ARL6" "0000326635" "ARL6" "0000329134" "ARL6" "0000336685" "ARL6" "0000360034" "ARL6" "0000360035" "ARL6" "0000360035" "SDCCAG8" "0000364893" "ARL6" "0000381576" "BBS1" "0000381577" "BBS1" "0000383821" "TTC8" "0000384359" "ARL6" "0000384365" "ARL6" "0000384369" "ARL6" "0000384370" "ARL6" "0000384497" "ARL6" "0000384544" "ARL6" "0000384545" "ARL6" "0000385830" "ARL6" "0000385831" "ARL6" "0000386015" "ARL6" "0000386016" "ARL6" "0000386017" "ARL6" "0000386018" "ARL6" "0000386019" "ARL6" "0000386020" "ARL6" "0000386021" "ARL6" "0000386022" "ARL6" "0000386023" "ARL6" "0000386024" "ARL6" "0000386046" "ARL6" "0000386047" "ARL6" "0000386048" "ARL6" "0000386056" "BBS1" "0000386413" "ARL6" "0000386452" "ARL6" "0000386455" "ARL6" "0000386465" "ARL6" "0000386849" "ARL6" "0000387196" "ARL6" "0000387197" "ARL6" "0000387198" "ARL6" "0000387199" "ARL6" "0000387200" "ARL6" "0000387201" "ARL6" "0000387202" "ARL6" "0000389807" "ARL6" "0000390046" "ARL6" "0000390047" "ARL6" "0000390099" "ARL6" "0000392070" "ARL6" "0000395074" "ARL6" "0000396852" "IMPG2" "0000405345" "ARL6" "0000405353" "ARL6" "0000405355" "ARL6" "0000405356" "ARL6" "0000405357" "ARL6" "0000405358" "ARL6" "0000413816" "ARL6" "0000413817" "ARL6" "0000419951" "ARL6" "0000419952" "ARL6" "0000438091" "ARL6" ## 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 = 103 "{{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}}" "0000059527" "1" "90" "3" "97499065" "97499065" "subst" "0" "00229" "ARL6_000001" "g.97499065G>A" "" "{PMID:Neveling 2012:22334370}" "" "" "" "Germline" "yes" "" "0" "" "" "g.97780221G>A" "" "pathogenic" "" "0000059528" "2" "90" "3" "97499065" "97499065" "subst" "0" "00229" "ARL6_000001" "g.97499065G>A" "" "{PMID:Neveling 2012:22334370}" "" "" "" "Germline" "yes" "" "0" "" "" "g.97780221G>A" "" "pathogenic" "" "0000094915" "3" "70" "3" "97510669" "97510669" "subst" "8.12876E-6" "01424" "ARL6_000026" "g.97510669A>G" "" "" "" "g.38272A>G" "" "Germline" "yes" "" "0" "" "" "g.97791825A>G" "" "likely pathogenic" "" "0000094916" "3" "70" "3" "97510669" "97510669" "subst" "8.12876E-6" "01424" "ARL6_000026" "g.97510669A>G" "" "" "" "g.38272A>G" "" "Germline" "yes" "" "0" "" "" "g.97791825A>G" "" "likely pathogenic" "" "0000158347" "3" "90" "3" "97488192" "97542175" "del" "0" "01769" "ARL6_000027" "g.97488192_97542175del" "" "{PMID:Li 2017:28418496}" "" "c.123+1118del53985" "variant description deduced from that reported" "Germline" "yes" "" "0" "" "" "g.97769348_97823331del" "" "pathogenic" "" "0000246139" "0" "10" "3" "97486975" "97486975" "subst" "8.12618E-6" "02330" "ARL6_000028" "g.97486975A>C" "" "" "" "ARL6(NM_032146.5):c.24A>C (p.S8=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.97768131A>C" "" "benign" "" "0000258344" "0" "10" "3" "97506827" "97506827" "subst" "6.92543E-5" "02330" "ARL6_000033" "g.97506827C>T" "" "" "" "ARL6(NM_032146.5):c.350-7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.97787983C>T" "" "benign" "" "0000258345" "0" "10" "3" "97506849" "97506849" "subst" "5.29566E-5" "02330" "ARL6_000034" "g.97506849G>A" "" "" "" "ARL6(NM_032146.5):c.365G>A (p.R122Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.97788005G>A" "" "benign" "" "0000258346" "0" "50" "3" "97486997" "97486999" "del" "0" "02330" "ARL6_000029" "g.97486997_97486999del" "" "" "" "ARL6(NM_032146.5):c.46_48delAAG (p.K16del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.97768153_97768155del" "" "VUS" "" "0000261065" "0" "10" "3" "97503683" "97503683" "subst" "0" "02326" "ARL6_000032" "g.97503683T>C" "" "" "" "ARL6(NM_032146.5):c.255-116T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.97784839T>C" "" "benign" "" "0000261066" "0" "10" "3" "97510607" "97510607" "subst" "0.00371283" "02326" "ARL6_000035" "g.97510607C>T" "" "" "" "ARL6(NM_032146.5):c.480-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.97791763C>T" "" "benign" "" "0000261067" "0" "90" "3" "97487043" "97487043" "subst" "4.0663E-6" "02326" "ARL6_000030" "g.97487043C>T" "" "" "" "ARL6(NM_032146.5):c.92C>T (p.T31M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.97768199C>T" "" "pathogenic" "" "0000262964" "0" "10" "3" "97499441" "97499441" "subst" "0.0212388" "01943" "ARL6_000031" "g.97499441T>C" "" "" "" "ARL6(NM_032146.5):c.186-18T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.97780597T>C" "" "benign" "" "0000476205" "0" "90" "3" "97503895" "97503895" "subst" "0" "02591" "ARL6_000037" "g.97503895T>C" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.97785051T>C" "" "pathogenic" "" "0000487543" "3" "90" "3" "97506857" "97506857" "dup" "0" "03335" "ARL6_000038" "g.97506857dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.97788013dup" "" "pathogenic (recessive)" "" "0000520819" "0" "50" "3" "97487006" "97487006" "subst" "1.21907E-5" "02330" "ARL6_000039" "g.97487006C>G" "" "" "" "ARL6(NM_032146.5):c.55C>G (p.H19D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.97768162C>G" "" "VUS" "" "0000520820" "0" "90" "3" "97499065" "97499065" "subst" "0" "01943" "ARL6_000001" "g.97499065G>A" "" "" "" "ARL6(NM_032146.5):c.185+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.97780221G>A" "" "pathogenic" "" "0000520821" "0" "90" "3" "97499065" "97499065" "subst" "0" "02327" "ARL6_000001" "g.97499065G>A" "" "" "" "ARL6(NM_032146.5):c.185+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.97780221G>A" "" "pathogenic" "" "0000520823" "0" "70" "3" "97506846" "97506846" "subst" "4.07402E-5" "02327" "ARL6_000041" "g.97506846G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.97788002G>A" "" "likely pathogenic" "" "0000608907" "0" "30" "3" "97499541" "97499541" "subst" "0" "02330" "ARL6_000043" "g.97499541T>A" "" "" "" "ARL6(NM_032146.5):c.254+14T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.97780697T>A" "" "likely benign" "" "0000621319" "0" "30" "3" "97506827" "97506827" "subst" "6.92543E-5" "01943" "ARL6_000033" "g.97506827C>T" "" "" "" "ARL6(NM_032146.5):c.350-7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.97787983C>T" "" "likely benign" "" "0000651344" "1" "70" "3" "97506846" "97506846" "subst" "4.07402E-5" "03575" "ARL6_000041" "g.97506846G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs765715798}" "Germline" "" "rs765715798" "0" "" "" "g.97788002G>A" "" "likely pathogenic" "" "0000655029" "0" "30" "3" "97516864" "97516864" "subst" "6.93878E-5" "02325" "ARL6_000036" "g.97516864T>C" "" "" "" "ARL6(NM_032146.5):c.536-4T>C, ARL6(NM_177976.3):c.536-4T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.97798020T>C" "" "likely benign" "" "0000655030" "0" "50" "3" "97516872" "97516876" "dup" "0" "02325" "ARL6_000044" "g.97516872_97516876dup" "" "" "" "ARL6(NM_001278293.3):c.540_544dup (p.(Gln182Argfs*5)), ARL6(NM_032146.5):c.540_544dupGATCC (p.Q182Rfs*5)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.97798028_97798032dup" "" "VUS" "" "0000685007" "0" "90" "3" "97506848" "97506848" "subst" "8.14697E-6" "00004" "ARL6_000045" "g.97506848C>T" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000689162" "0" "50" "3" "97516872" "97516876" "dup" "0" "01943" "ARL6_000044" "g.97516872_97516876dup" "" "" "" "ARL6(NM_001278293.3):c.540_544dup (p.(Gln182Argfs*5)), ARL6(NM_032146.5):c.540_544dupGATCC (p.Q182Rfs*5)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000710227" "3" "90" "3" "97506857" "97506857" "dup" "0" "00006" "ARL6_000038" "g.97506857dup" "1/143 cases" "{PMID:Zenteno 2020:31736247}" "" "373dupA" "ACMG PVS1, PM2, PP4" "Germline" "" "" "0" "" "" "g.97788013dup" "" "pathogenic" "ACMG" "0000713257" "3" "90" "3" "97503825" "97503825" "subst" "3.25322E-5" "00000" "ARL6_000046" "g.97503825T>C" "" "{PMID:Carss 2017:28041643}" "" "3:97503825T>C ENST00000463745.1:c.281T>C (Ile94Thr)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000719648" "0" "90" "3" "97503806" "97503806" "subst" "0" "01943" "ARL6_000047" "g.97503806C>T" "" "" "" "ARL6(NM_032146.5):c.262C>T (p.Q88*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000736175" "3" "90" "3" "97506846" "97506846" "subst" "4.07402E-5" "00000" "ARL6_000041" "g.97506846G>A" "" "{PMID:Biswas 2017:28130426}" "" "" "" "Germline" "" "rs765715798" "0" "" "" "g.97788002G>A" "" "pathogenic" "" "0000759684" "3" "90" "3" "97498356" "97583288" "del" "0" "00000" "ARL6_000048" "g.97498356_97583288del" "" "{PMID:Lindstrand 2016:27486776}" "" "del 97498355-97583359del" "85,004 bp deletion, 5 bp microhomology" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000759685" "3" "90" "3" "97508936" "97513057" "del" "0" "00000" "ARL6_000049" "g.97508936_97513057del" "" "{PMID:Lindstrand 2016:27486776}" "" "del exon8 97508904-97513012del" "4,108 bp deletion, (TG)n simple repeat 41 bp homology" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000759901" "11" "50" "3" "97510616" "97510616" "subst" "0.000333276" "00006" "ARL6_000050" "g.97510616G>T" "" "{PMID:Sundaramurthy 2016:27383656}" "" "" "" "Germline" "no" "" "0" "" "" "" "" "VUS" "" "0000760026" "0" "50" "3" "97503929" "97503929" "subst" "0.006768" "00000" "ARL6_000051" "g.97503929G>A" "" "{PMID:Tiwari 2016:27353947}" "" "NM_001278293.1:c.349+36G>A" "" "Germline" "" "" "0" "" "" "g.97785085G>A" "" "VUS" "" "0000765835" "0" "70" "3" "97506846" "97506846" "subst" "4.07402E-5" "00000" "ARL6_000041" "g.97506846G>A" "" "{PMID:Patel 2016:26355662}" "" "" "" "Germline" "" "" "0" "" "" "g.97788002G>A" "" "likely pathogenic" "" "0000795048" "0" "90" "3" "97483260" "97483260" "subst" "0" "00000" "ARL6_000052" "g.97483260A>G" "" "{PMID:M\'hamdi 2014:23432027}" "" "c.-688A>G" "" "Unknown" "" "" "0" "" "" "" "" "likely benign" "" "0000795050" "0" "90" "3" "97483260" "97483260" "subst" "0" "00000" "ARL6_000052" "g.97483260A>G" "" "{PMID:M\'hamdi 2014:23432027}" "" "c.-688A>G" "" "Unknown" "" "" "0" "" "" "" "" "likely benign" "" "0000798092" "0" "70" "3" "0" "0" "" "0" "00000" "OPA1_000149" "g.?" "" "{PMID:Jespersgaar 2019:30718709}" "" "TTC8 c.403G>A, p.(Ala135Thr), c.595-5C>T, p.(?), ARL6 c.(?_-1), _(*1_?)dup" "single heterozygous variant (recessive)" "Germline" "?" "" "0" "" "" "g.?" "" "likely pathogenic" "ACMG" "0000801397" "0" "70" "3" "97487066" "97487073" "del" "0" "02330" "ARL6_000053" "g.97487066_97487073del" "" "" "" "ARL6(NM_032146.5):c.115_122delCCTTCAAA (p.P39Cfs*28)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000810978" "3" "70" "3" "97503846" "97503846" "subst" "0" "00000" "ARL6_000055" "g.97503846G>T" "" "{PMID:Sathya Priya-2015:24400638}" "" "c.302G>T" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000810984" "3" "70" "3" "97503816" "97503816" "subst" "1.22023E-5" "00000" "ARL6_000054" "g.97503816T>C" "" "{PMID:Sathya Priya-2015:24400638}" "" "c.272T>C" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000810988" "3" "70" "3" "97503816" "97503816" "subst" "1.22023E-5" "00000" "ARL6_000054" "g.97503816T>C" "" "{PMID:Sathya Priya-2015:24400638}" "" "c.272T>C" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000810989" "3" "50" "3" "97503816" "97503816" "subst" "1.22023E-5" "00000" "ARL6_000054" "g.97503816T>C" "" "{PMID:Sathya Priya-2015:24400638}" "" "c.272T>C" "" "Germline" "no" "" "0" "" "" "" "" "VUS" "" "0000811188" "0" "30" "3" "97506849" "97506849" "subst" "5.29566E-5" "00000" "ARL6_000034" "g.97506849G>A" "" "{PMID:Muller-2010:20177705}, {PMID:Stoetzel 2007:17160889}" "" "BBS3:c.365G>A" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000811256" "3" "90" "3" "97486955" "97486955" "subst" "0" "00000" "ARL6_000057" "g.97486955G>T" "0/100 ethnically matched control chromosomes." "{PMID:Pereiro-2010:20142850}, {PMID:Alvarez-Satta 2017:28502102}" "" "BBS3:p.G2X (c.4G>T)" "expression cloning mini-gene splicing assay shows no effect on splicing" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000811257" "3" "90" "3" "97486955" "97486955" "subst" "0" "00000" "ARL6_000057" "g.97486955G>T" "0/100 ethnically matched control chromosomes." "{PMID:Pereiro-2010:20142850}, {PMID:Alvarez-Satta 2017:28502102}" "" "BBS3:p.G2X (c.4G>T)" "expression cloning mini-gene splicing assay shows no effect on splicing" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000812985" "3" "70" "3" "97487019" "97487019" "subst" "0" "00000" "ARL6_000056" "g.97487019T>C" "" "{PMID:Jaffal 2019:31888296}" "" "c.68T > C, p. (Leu23Pro)" "homozygous" "Germline" "yes" "" "0" "" "" "g.97768175T>C" "" "likely pathogenic" "ACMG" "0000812986" "3" "70" "3" "97487019" "97487019" "subst" "0" "00000" "ARL6_000056" "g.97487019T>C" "" "{PMID:Jaffal 2019:31888296}" "" "c.68T > C, p. (Leu23Pro)" "homozygous" "Germline" "yes" "" "0" "" "" "g.97768175T>C" "" "likely pathogenic" "ACMG" "0000813237" "3" "70" "3" "97506915" "97506915" "subst" "0" "00000" "ARL6_000061" "g.97506915C>T" "0/96 ethnically matched controls" "{PMID:Abu-Safieh-2012:22353939}, Abu-Safieh 2010" "" "BBS3:c.431C>T p.(S144F)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000813239" "3" "70" "3" "97506915" "97506915" "subst" "0" "00000" "ARL6_000061" "g.97506915C>T" "0/96 ethnically matched controls" "{PMID:Abu-Safieh-2012:22353939}, Abu-Safieh 2010" "" "BBS3:c.431C>T p.(S144F)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000813240" "3" "70" "3" "97506915" "97506915" "subst" "0" "00000" "ARL6_000061" "g.97506915C>T" "0/96 ethnically matched controls" "{PMID:Abu-Safieh-2012:22353939}, Abu-Safieh 2010" "" "BBS3:c.431C>T p.(S144F)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000813241" "3" "70" "3" "97506915" "97506915" "subst" "0" "00000" "ARL6_000061" "g.97506915C>T" "0/96 ethnically matched controls" "{PMID:Abu-Safieh-2012:22353939}, Abu-Safieh 2010" "" "BBS3:c.431C>T p.(S144F)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000813243" "3" "70" "3" "97506915" "97506915" "subst" "0" "00000" "ARL6_000061" "g.97506915C>T" "0/96 ethnically matched controls" "{PMID:Abu-Safieh-2012:22353939}, Abu-Safieh 2010" "" "BBS3:c.431C>T p.(S144F)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000813244" "3" "70" "3" "97508915" "97513062" "del" "0" "00000" "ARL6_000062" "g.97508915_97513062del" "0/96 ethnically matched controls" "{PMID:Abu-Safieh-2012:22353939}, Abu-Safieh 2010" "" "BBS3:c.480-1700_535+2392del r.(480_535del) p.(C160*)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000813245" "3" "70" "3" "97508915" "97513062" "del" "0" "00000" "ARL6_000062" "g.97508915_97513062del" "0/96 ethnically matched controls" "{PMID:Abu-Safieh-2012:22353939}, Abu-Safieh 2010" "" "BBS3:c.480-1700_535+2392del r.(480_535del) p.(C160*)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000813246" "3" "70" "3" "97508915" "97513062" "del" "0" "00000" "ARL6_000062" "g.97508915_97513062del" "0/96 ethnically matched controls" "{PMID:Abu-Safieh-2012:22353939}, Abu-Safieh 2010" "" "BBS3:c.480-1700_535+2392del r.(480_535del) p.(C160*)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000813247" "3" "70" "3" "97508915" "97513062" "del" "0" "00000" "ARL6_000062" "g.97508915_97513062del" "0/96 ethnically matched controls" "{PMID:Abu-Safieh-2012:22353939}, Abu-Safieh 2010" "" "BBS3:c.480-1700_535+2392del r.(480_535del) p.(C160*)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000813248" "3" "70" "3" "97508915" "97513062" "del" "0" "00000" "ARL6_000062" "g.97508915_97513062del" "0/96 ethnically matched controls" "{PMID:Abu-Safieh-2012:22353939}, Abu-Safieh 2010" "" "BBS3:c.480-1700_535+2392del r.(480_535del) p.(C160*)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000813284" "3" "70" "3" "97508915" "97513062" "del" "0" "00000" "ARL6_000062" "g.97508915_97513062del" "0/96 ethnically matched controls" "{PMID:Abu-Safieh-2012:22353939}, Abu-Safieh 2010" "" "c.480-1700_535+2392del r.(480_535del) p.(C160*)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000813287" "3" "70" "3" "97508915" "97513062" "del" "0" "00000" "ARL6_000062" "g.97508915_97513062del" "0/96 ethnically matched controls" "{PMID:Abu-Safieh-2012:22353939}, Abu-Safieh 2010" "" "c.480-1700_535+2392del r.(480_535del) p.(C160*)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000813288" "3" "70" "3" "97508915" "97513062" "del" "0" "00000" "ARL6_000062" "g.97508915_97513062del" "0/96 ethnically matched controls" "{PMID:Abu-Safieh-2012:22353939}, Abu-Safieh 2010" "" "c.480-1700_535+2392del r.(480_535del) p.(C160*)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000813303" "0" "50" "3" "97510750" "97510750" "subst" "0" "00000" "ARL6_000064" "g.97510750A>G" "" "{PMID:Abu-Safieh-2012:22353939}, Abu-Safieh 2010" "" "c.535+80A>G" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000813920" "3" "90" "3" "97487043" "97487043" "subst" "4.0663E-6" "00000" "ARL6_000030" "g.97487043C>T" "" "{PMID:Chen-2011:21642631}" "" "c.92C>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000813973" "3" "70" "3" "97488192" "97488192" "del" "0" "00000" "ARL6_000060" "g.97488192del53985" "" "{PMID:Chen-2011:21642631}" "" "c.123+1118del53985" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000813978" "0" "50" "3" "97510670" "97510670" "subst" "0" "00000" "ARL6_000063" "g.97510670G>A" "" "{PMID:Redin-2012:22773737}" "" "c.[535G>A];[=]" "normal 2nd chromosome" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000813998" "3" "90" "3" "97484931" "97487075" "del" "0" "00000" "ARL6_000059" "g.97484931_97487075del" "" "{PMID:Redin-2012:22773737}" "" "c.[(?_-30)_(123+?))del;[(?-30)_(123+?)]del" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000814627" "3" "90" "3" "97506848" "97506848" "subst" "8.14697E-6" "00000" "ARL6_000045" "g.97506848C>T" "" "{PMID:Xing-2014:24608809}" "" "c.364C>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000815075" "3" "90" "3" "97503825" "97503825" "subst" "3.25322E-5" "00000" "ARL6_000046" "g.97503825T>C" "300 ethnically matched control individuals" "{PMID:Khan 2013:23219996}" "" "p.Ile94Thr" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000815076" "3" "90" "3" "97503825" "97503825" "subst" "3.25322E-5" "00000" "ARL6_000046" "g.97503825T>C" "" "{PMID:Khan 2013:23219996}" "" "p.Ile94Thr" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000815077" "3" "90" "3" "97503825" "97503825" "subst" "3.25322E-5" "00000" "ARL6_000046" "g.97503825T>C" "" "{PMID:Khan 2013:23219996}" "" "p.Ile94Thr" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000815078" "3" "90" "3" "97503825" "97503825" "subst" "3.25322E-5" "00000" "ARL6_000046" "g.97503825T>C" "" "{PMID:Khan 2013:23219996}" "" "p.Ile94Thr" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000815079" "3" "90" "3" "97503825" "97503825" "subst" "3.25322E-5" "00000" "ARL6_000046" "g.97503825T>C" "" "{PMID:Khan 2013:23219996}" "" "p.Ile94Thr" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000815080" "3" "90" "3" "97503825" "97503825" "subst" "3.25322E-5" "00000" "ARL6_000046" "g.97503825T>C" "" "{PMID:Khan 2013:23219996}" "" "p.Ile94Thr" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000815081" "3" "90" "3" "97503825" "97503825" "subst" "3.25322E-5" "00000" "ARL6_000046" "g.97503825T>C" "" "{PMID:Khan 2013:23219996}" "" "p.Ile94Thr" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000819066" "0" "90" "3" "97486987" "97486990" "dup" "0" "00000" "ARL6_000065" "g.97486987_97486990dup" "" "{PMID:Dineiro 2020:32483926}" "" "ARL6 c.36_39dupCCTG, p.(Lys14Profs*15)" "heterozygous" "Germline" "?" "" "0" "" "" "g.97768143_97768146dup" "" "pathogenic" "ACMG" "0000819088" "0" "70" "3" "97510634" "97510634" "subst" "1.62524E-5" "00000" "ARL6_000066" "g.97510634G>A" "" "{PMID:Dineiro 2020:32483926}" "" "ARL6 c.499G>A, p.(Gly167Arg)" "heterozygous" "Germline" "?" "" "0" "" "" "g.97791790G>A" "" "likely pathogenic" "ACMG" "0000819391" "1" "70" "3" "97503835" "97503835" "subst" "0" "00000" "ARL6_000067" "g.97503835T>A" "" "{PMID:Weisschuh 2020:32531858}" "" "ARL6, variant 1: c.291T>A/p.S97R, variant 2: c.528G>T/p.W176C" "possibly solved, compound heterozygous" "Germline" "yes" "" "0" "" "" "g.97784991T>A" "" "likely pathogenic" "" "0000819392" "1" "70" "3" "97503835" "97503835" "subst" "0" "00000" "ARL6_000067" "g.97503835T>A" "" "{PMID:Weisschuh 2020:32531858}" "" "ARL6, variant 1: c.291T>A/p.S97R, variant 2: c.528G>T/p.W176C" "possibly solved, compound heterozygous" "Germline" "yes" "" "0" "" "" "g.97784991T>A" "" "likely pathogenic" "" "0000819444" "1" "70" "3" "0" "0" "" "0" "00000" "OPA1_000149" "g.?" "" "{PMID:Weisschuh 2020:32531858}" "" "ARL6, variant 1 :Deletion exon 4-9, variant 2 :Deletion exon 4-9" "error in annotation, NM_001278293.3 has only 8 exons; positions given for NM_032146.4, solved, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.?" "" "likely pathogenic" "" "0000820632" "1" "70" "3" "97510663" "97510663" "subst" "0" "00000" "ARL6_000068" "g.97510663G>T" "" "{PMID:Weisschuh 2020:32531858}" "" "ARL6, variant 1: c.291T>A/p.S97R, variant 2: c.528G>T/p.W176C" "possibly solved, compound heterozygous" "Germline" "yes" "" "0" "" "" "g.97791819G>T" "" "likely pathogenic" "" "0000820633" "1" "70" "3" "97510663" "97510663" "subst" "0" "00000" "ARL6_000068" "g.97510663G>T" "" "{PMID:Weisschuh 2020:32531858}" "" "ARL6, variant 1: c.291T>A/p.S97R, variant 2: c.528G>T/p.W176C" "possibly solved, compound heterozygous" "Germline" "yes" "" "0" "" "" "g.97791819G>T" "" "likely pathogenic" "" "0000820649" "1" "70" "3" "0" "0" "" "0" "00000" "OPA1_000149" "g.?" "" "{PMID:Weisschuh 2020:32531858}" "" "ARL6, variant 1 :Deletion exon 4-9, variant 2 :Deletion exon 4-9" "error in annotation, NM_001278293.3 has only 8 exons; positions given for NM_032146.4, solved, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.?" "" "likely pathogenic" "" "0000822172" "0" "90" "3" "97503816" "97503816" "subst" "1.22023E-5" "00000" "ARL6_000054" "g.97503816T>C" "" "{PMID:Chandrasekar-2018:29806606}" "" "BBS3:p.I91T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000826255" "3" "70" "3" "97506845" "97506845" "subst" "1.22219E-5" "00000" "ARL6_000069" "g.97506845C>T" "" "{PMID:Liu-2020:33090715}" "" "c.361C>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000828551" "0" "50" "3" "97483365" "113953480" "del" "0" "00000" "IMPG2_000140" "g.97483365_113953480del" "" "{PMID:Perea-Romero 2021:34448047}" "" "chr3, g.97483365_113953480del, arr([GRCh37] 3q11.2q13.31(97483365_113953480)x1), heterozygous" "no gene indicated in publication!" "Unknown" "?" "" "0" "" "" "g.97764521_114234636del" "" "VUS" "ACMG" "0000841432" "3" "90" "3" "97503810" "97503810" "subst" "0" "00006" "ARL6_000070" "g.97503810C>T" "" "{PMID:Aldahmesh 2009:19956407}, {PMID:Pretorius 2011:21282186}" "" "619C>T (A89V)" "functional analysis" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000841441" "3" "90" "3" "97506848" "97506848" "subst" "8.14697E-6" "00006" "ARL6_000045" "g.97506848C>T" "" "{PMID:Chiang 2004:15258860}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000841442" "3" "90" "3" "97510641" "97510641" "subst" "4.06316E-6" "00006" "ARL6_000071" "g.97510641G>C" "" "{PMID:Fan 2004:15314642}" "" "859G>C" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000841443" "3" "90" "3" "97487043" "97487043" "subst" "4.0663E-6" "00006" "ARL6_000030" "g.97487043C>T" "" "{PMID:Fan 2004:15314642}" "" "445C>T" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000841445" "3" "90" "3" "97510644" "97510644" "subst" "0" "00006" "ARL6_000072" "g.97510644T>G" "" "{PMID:Fan 2004:15314642}" "" "862T>G" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000841446" "3" "90" "3" "97487043" "97487043" "subst" "0" "00006" "ARL6_000073" "g.97487043C>G" "" "{PMID:Fan 2004:15314642}" "" "445C>G" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000859156" "0" "30" "3" "97516864" "97516864" "subst" "6.93878E-5" "01943" "ARL6_000036" "g.97516864T>C" "" "" "" "ARL6(NM_032146.5):c.536-4T>C, ARL6(NM_177976.3):c.536-4T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000871361" "3" "70" "3" "97510669" "97510669" "subst" "8.12876E-6" "00000" "ARL6_000026" "g.97510669A>G" "" "{PMID:Maria 2016:27708425}" "" "ARL6 c.534A>G , p=p.(Q178Q)" "homozygous; aberrant splicing confirmed; exon 8 of ARL6 skipped resulting in a frameshift that causes a premature stop codon at position 160 (p.(C160*))" "Germline" "yes" "" "0" "" "" "g.97791825A>G" "" "likely pathogenic (recessive)" "" "0000871362" "3" "70" "3" "97510669" "97510669" "subst" "8.12876E-6" "00000" "ARL6_000026" "g.97510669A>G" "" "{PMID:Maria 2016:27708425}" "" "ARL6 c.534A>G , p=p.(Q178Q)" "homozygous; aberrant splicing confirmed; exon 8 of ARL6 skipped resulting in a frameshift that causes a premature stop codon at position 160 (p.(C160*))" "Germline" "yes" "" "0" "" "" "g.97791825A>G" "" "likely pathogenic (recessive)" "" "0000880175" "0" "10" "3" "97503871" "97503871" "subst" "0" "00006" "ARL6_000075" "g.97503871C>G" "1/19 families BBS" "{PMID:Smaoui 2006:16877420}" "" "" "" "Germline" "" "" "0" "" "" "g.97785027C>G" "" "benign" "" "0000880176" "0" "10" "3" "97499468" "97499468" "subst" "0" "00006" "ARL6_000074" "g.97499468T>C" "1/19 families BBS" "{PMID:Smaoui 2006:16877420}" "" "" "" "Germline" "" "" "0" "" "" "g.97780624T>C" "" "benign" "" "0000886023" "0" "30" "3" "97516864" "97516864" "subst" "6.93878E-5" "02326" "ARL6_000036" "g.97516864T>C" "" "" "" "ARL6(NM_032146.5):c.536-4T>C, ARL6(NM_177976.3):c.536-4T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000933618" "3" "90" "3" "97499501" "97499501" "subst" "0" "04552" "ARL6_000076" "g.97499501C>G" "" "Villafuerte-de la Cruz RA, et al., 2023. Submitted" "" "" "" "Germline" "yes" "rs2037147164" "" "" "" "" "{CV:1028925}" "pathogenic" "ACMG" "0000962936" "0" "10" "3" "97508932" "97508935" "dup" "0" "02326" "ARL6_000077" "g.97508932_97508935dup" "" "" "" "ARL6(NM_177976.3):c.480-1683_480-1680dupTGTG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000962937" "0" "10" "3" "97508934" "97508935" "del" "0" "02326" "ARL6_000078" "g.97508934_97508935del" "" "" "" "ARL6(NM_177976.3):c.480-1681_480-1680delTG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000976013" "0" "30" "3" "97508932" "97508935" "del" "0" "02326" "ARL6_000079" "g.97508932_97508935del" "" "" "" "ARL6(NM_177976.3):c.480-1683_480-1680delTGTG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034209" "0" "50" "3" "97499483" "97499483" "subst" "0" "01804" "ARL6_000080" "g.97499483G>A" "" "" "" "ARL6(NM_001278293.3):c.210G>A (p.(Met70Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034210" "0" "50" "3" "97516872" "97516876" "dup" "0" "01804" "ARL6_000044" "g.97516872_97516876dup" "" "" "" "ARL6(NM_001278293.3):c.540_544dup (p.(Gln182Argfs*5)), ARL6(NM_032146.5):c.540_544dupGATCC (p.Q182Rfs*5)" "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 ARL6 ## Count = 103 "{{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}}" "0000059527" "00025698" "90" "185" "1" "185" "1" "c.185+1G>A" "r.spl" "p.?" "3i" "0000059528" "00025698" "90" "185" "1" "185" "1" "c.185+1G>A" "r.spl" "p.?" "3" "0000094915" "00025698" "70" "534" "0" "534" "0" "c.534A>G" "r.spl?" "p.(Gln178=)" "7" "0000094916" "00025698" "70" "534" "0" "534" "0" "c.534A>G" "r.spl?" "p.(Gln178=)" "7" "0000158347" "00025698" "90" "" "0" "" "0" "c.123+1118_*486{0}" "r.?" "p.?" "2i_8_" "0000246139" "00025698" "10" "24" "0" "24" "0" "c.24A>C" "r.(?)" "p.(Ser8=)" "" "0000258344" "00025698" "10" "350" "-7" "350" "-7" "c.350-7C>T" "r.(=)" "p.(=)" "" "0000258345" "00025698" "10" "365" "0" "365" "0" "c.365G>A" "r.(?)" "p.(Arg122Gln)" "" "0000258346" "00025698" "50" "46" "0" "48" "0" "c.46_48del" "r.(?)" "p.(Lys16del)" "" "0000261065" "00025698" "10" "255" "-116" "255" "-116" "c.255-116T>C" "r.(=)" "p.(=)" "" "0000261066" "00025698" "10" "480" "-8" "480" "-8" "c.480-8C>T" "r.(=)" "p.(=)" "" "0000261067" "00025698" "90" "92" "0" "92" "0" "c.92C>T" "r.(?)" "p.(Thr31Met)" "" "0000262964" "00025698" "10" "186" "-18" "186" "-18" "c.186-18T>C" "r.(=)" "p.(=)" "" "0000476205" "00025698" "90" "349" "2" "349" "2" "c.349+2T>C" "r.spl?" "p.?" "" "0000487543" "00025698" "90" "373" "0" "373" "0" "c.373dup" "r.(?)" "p.(Ile125Asnfs*7)" "0" "0000520819" "00025698" "50" "55" "0" "55" "0" "c.55C>G" "r.(?)" "p.(His19Asp)" "" "0000520820" "00025698" "90" "185" "1" "185" "1" "c.185+1G>A" "r.spl?" "p.?" "" "0000520821" "00025698" "90" "185" "1" "185" "1" "c.185+1G>A" "r.spl?" "p.?" "" "0000520823" "00025698" "70" "362" "0" "362" "0" "c.362G>A" "r.(?)" "p.(Arg121His)" "" "0000608907" "00025698" "30" "254" "14" "254" "14" "c.254+14T>A" "r.(=)" "p.(=)" "" "0000621319" "00025698" "30" "350" "-7" "350" "-7" "c.350-7C>T" "r.(=)" "p.(=)" "" "0000651344" "00025698" "70" "362" "0" "362" "0" "c.362G>A" "r.(?)" "p.(Arg121His)" "" "0000655029" "00025698" "30" "536" "-4" "536" "-4" "c.536-4T>C" "r.spl?" "p.?" "" "0000655030" "00025698" "50" "540" "0" "544" "0" "c.540_544dup" "r.(?)" "p.(Gln182ArgfsTer5)" "" "0000685007" "00025698" "90" "364" "0" "364" "0" "c.364C>T" "r.(?)" "p.(Arg122*)" "" "0000689162" "00025698" "50" "540" "0" "544" "0" "c.540_544dup" "r.(?)" "p.(Gln182ArgfsTer5)" "" "0000710227" "00025698" "90" "373" "0" "373" "0" "c.373dup" "r.(?)" "p.(Ile125Asnfs*7)" "" "0000713257" "00025698" "90" "281" "0" "281" "0" "c.281T>C" "r.(?)" "p.(Ile94Thr)" "" "0000719648" "00025698" "90" "262" "0" "262" "0" "c.262C>T" "r.(?)" "p.(Gln88*)" "" "0000736175" "00025698" "90" "362" "0" "362" "0" "c.362G>A" "r.(?)" "p.(Arg121His)" "" "0000759684" "00025698" "90" "124" "-647" "66956" "0" "c.124-647_*66395del" "r.0?" "p.0?" "" "0000759685" "00025698" "90" "480" "-1679" "535" "2387" "c.480-1679_535+2387del" "r.(?)" "p.(Cys160*)" "" "0000759901" "00025698" "50" "481" "0" "481" "0" "c.481G>T" "r.(?)" "p.(Ala161Ser)" "" "0000760026" "00025698" "50" "349" "36" "349" "36" "c.349+36G>A" "r.(=)" "p.(=)" "" "0000765835" "00025698" "70" "362" "0" "362" "0" "c.362G>A" "r.(?)" "p.(Arg121His)" "" "0000795048" "00025698" "90" "-589" "0" "-589" "0" "c.-589A>G" "r.(?)" "p.(=)" "_1" "0000795050" "00025698" "90" "-589" "0" "-589" "0" "c.-589A>G" "r.(?)" "p.(=)" "_1" "0000798092" "00025698" "70" "" "0" "" "0" "c.-484_*486{2}" "r.(?)" "p.(?)" "_1_8_" "0000801397" "00025698" "70" "115" "0" "122" "0" "c.115_122del" "r.(?)" "p.(Pro39Cysfs*28)" "" "0000810978" "00025698" "70" "302" "0" "302" "0" "c.302G>T" "r.(?)" "p.(Arg101Ile)" "5" "0000810984" "00025698" "70" "272" "0" "272" "0" "c.272T>C" "r.(?)" "p.(Ile91Thr)" "5" "0000810988" "00025698" "70" "272" "0" "272" "0" "c.272T>C" "r.(?)" "p.(Ile91Thr)" "5" "0000810989" "00025698" "50" "272" "0" "272" "0" "c.272T>C" "r.(?)" "p.(Ile91Thr)" "5" "0000811188" "00025698" "30" "365" "0" "365" "0" "c.365G>A" "r.(?)" "p.(Arg122Gln)" "6" "0000811256" "00025698" "90" "4" "0" "4" "0" "c.4G>T" "r.(4g>u)" "p.(Gly2*)" "2" "0000811257" "00025698" "90" "4" "0" "4" "0" "c.4G>T" "r.(4g>u)" "p.(Gly2*)" "2" "0000812985" "00025698" "70" "68" "0" "68" "0" "c.68T>C" "r.(?)" "p.(Leu23Pro)" "" "0000812986" "00025698" "70" "68" "0" "68" "0" "c.68T>C" "r.(?)" "p.(Leu23Pro)" "" "0000813237" "00025698" "70" "431" "0" "431" "0" "c.431C>T" "r.(?)" "p.(Ser144Phe)" "6" "0000813239" "00025698" "70" "431" "0" "431" "0" "c.431C>T" "r.(?)" "p.(Ser144Phe)" "6" "0000813240" "00025698" "70" "431" "0" "431" "0" "c.431C>T" "r.(?)" "p.(Ser144Phe)" "6" "0000813241" "00025698" "70" "431" "0" "431" "0" "c.431C>T" "r.(?)" "p.(Ser144Phe)" "6" "0000813243" "00025698" "70" "431" "0" "431" "0" "c.431C>T" "r.(?)" "p.(Ser144Phe)" "6" "0000813244" "00025698" "70" "480" "-1700" "535" "2392" "c.480-1700_535+2392del" "r.(?)" "p.(Cys160*)" "6i_7i" "0000813245" "00025698" "70" "480" "-1700" "535" "2392" "c.480-1700_535+2392del" "r.(?)" "p.(Cys160*)" "6i_7i" "0000813246" "00025698" "70" "480" "-1700" "535" "2392" "c.480-1700_535+2392del" "r.(?)" "p.(Cys160*)" "6i_7i" "0000813247" "00025698" "70" "480" "-1700" "535" "2392" "c.480-1700_535+2392del" "r.(?)" "p.(Cys160*)" "6i_7i" "0000813248" "00025698" "70" "480" "-1700" "535" "2392" "c.480-1700_535+2392del" "r.(?)" "p.(Cys160*)" "6i_7i" "0000813284" "00025698" "70" "480" "-1700" "535" "2392" "c.480-1700_535+2392del" "r.(?)" "p.(Cys160*)" "6i_7i" "0000813287" "00025698" "70" "480" "-1700" "535" "2392" "c.480-1700_535+2392del" "r.(?)" "p.(Cys160*)" "6i_7i" "0000813288" "00025698" "70" "480" "-1700" "535" "2392" "c.480-1700_535+2392del" "r.(?)" "p.(Cys160*)" "6i_7i" "0000813303" "00025698" "50" "535" "80" "535" "80" "c.535+80A>G" "r.(=)" "p.(=)" "7i" "0000813920" "00025698" "90" "92" "0" "92" "0" "c.92C>T" "r.(?)" "p.(Thr31Met)" "2" "0000813973" "00025698" "70" "123" "1118" "123" "1118" "c.123+1118del53985" "r.(?)" "p.?" "2i" "0000813978" "00025698" "50" "535" "0" "535" "0" "c.535G>A" "r.(?)" "p.(Asp179Asn)" "7" "0000813998" "00025698" "90" "-28" "1110" "123" "1" "c.-28+1110_123+1del" "r.spl?" "p.?" "1i_2i" "0000814627" "00025698" "90" "364" "0" "364" "0" "c.364C>T" "r.(?)" "p.(Arg122*)" "6" "0000815075" "00025698" "90" "281" "0" "281" "0" "c.281T>C" "r.(?)" "p.(Ile94Thr)" "5" "0000815076" "00025698" "90" "281" "0" "281" "0" "c.281T>C" "r.(?)" "p.(Ile94Thr)" "5" "0000815077" "00025698" "90" "281" "0" "281" "0" "c.281T>C" "r.(?)" "p.(Ile94Thr)" "5" "0000815078" "00025698" "90" "281" "0" "281" "0" "c.281T>C" "r.(?)" "p.(Ile94Thr)" "5" "0000815079" "00025698" "90" "281" "0" "281" "0" "c.281T>C" "r.(?)" "p.(Ile94Thr)" "5" "0000815080" "00025698" "90" "281" "0" "281" "0" "c.281T>C" "r.(?)" "p.(Ile94Thr)" "5" "0000815081" "00025698" "90" "281" "0" "281" "0" "c.281T>C" "r.(?)" "p.(Ile94Thr)" "5" "0000819066" "00025698" "90" "36" "0" "39" "0" "c.36_39dup" "r.(?)" "p.(Lys14Profs*15)" "" "0000819088" "00025698" "70" "499" "0" "499" "0" "c.499G>A" "r.(?)" "p.(Gly167Arg)" "" "0000819391" "00025698" "70" "291" "0" "291" "0" "c.291T>A" "r.(?)" "p.(Ser97Arg)" "" "0000819392" "00025698" "70" "291" "0" "291" "0" "c.291T>A" "r.(?)" "p.(Ser97Arg)" "" "0000819444" "00025698" "70" "" "0" "" "0" "c.(123+1_124-1)_(535+1_*3193)" "r.spl" "p.(?)" "" "0000820632" "00025698" "70" "528" "0" "528" "0" "c.528G>T" "r.(?)" "p.(Trp176Cys)" "" "0000820633" "00025698" "70" "528" "0" "528" "0" "c.528G>T" "r.(?)" "p.(Trp176Cys)" "" "0000820649" "00025698" "70" "" "0" "" "0" "c.(123+1_124-1)_(535+1_*3193)" "r.spl" "p.(?)" "" "0000822172" "00025698" "90" "272" "0" "272" "0" "c.272T>C" "r.(?)" "p.(Ile91Thr)" "5" "0000826255" "00025698" "70" "361" "0" "361" "0" "c.361C>T" "r.(?)" "p.(Arg121Cys)" "6" "0000828551" "00025698" "50" "-484" "0" "8388607" "0" "c.-484_*16436587del" "r.0?" "p.0?" "" "0000841432" "00025698" "90" "266" "0" "266" "0" "c.266C>T" "r.(?)" "p.(Ala89Val)" "" "0000841441" "00025698" "90" "364" "0" "364" "0" "c.364C>T" "r.(?)" "p.(Arg122*)" "" "0000841442" "00025698" "90" "506" "0" "506" "0" "c.506G>C" "r.(?)" "p.(Gly169Ala)" "" "0000841443" "00025698" "90" "92" "0" "92" "0" "c.92C>T" "r.(?)" "p.(Thr31Met)" "" "0000841445" "00025698" "90" "509" "0" "509" "0" "c.509T>G" "r.(?)" "p.(Leu170Trp)" "" "0000841446" "00025698" "90" "92" "0" "92" "0" "c.92C>G" "r.(?)" "p.(Thr31Arg)" "" "0000859156" "00025698" "30" "536" "-4" "536" "-4" "c.536-4T>C" "r.spl?" "p.?" "" "0000871361" "00025698" "70" "534" "0" "534" "0" "c.534A>G" "r.spl" "p.(Gln178=)" "" "0000871362" "00025698" "70" "534" "0" "534" "0" "c.534A>G" "r.spl" "p.(Gln178=)" "" "0000880175" "00025698" "10" "327" "0" "327" "0" "c.327C>G" "r.(?)" "p.(=)" "" "0000880176" "00025698" "10" "195" "0" "195" "0" "c.195T>C" "r.(?)" "p.(=)" "" "0000886023" "00025698" "30" "536" "-4" "536" "-4" "c.536-4T>C" "r.spl?" "p.?" "" "0000933618" "00025698" "90" "228" "0" "228" "0" "c.228C>G" "r.(?)" "p.(Tyr76*)" "" "0000962936" "00025698" "10" "480" "-1683" "480" "-1680" "c.480-1683_480-1680dup" "r.(=)" "p.(=)" "" "0000962937" "00025698" "10" "480" "-1681" "480" "-1680" "c.480-1681_480-1680del" "r.(=)" "p.(=)" "" "0000976013" "00025698" "30" "480" "-1683" "480" "-1680" "c.480-1683_480-1680del" "r.(=)" "p.(=)" "" "0001034209" "00025698" "50" "210" "0" "210" "0" "c.210G>A" "r.(?)" "p.(Met70Ile)" "" "0001034210" "00025698" "50" "540" "0" "544" "0" "c.540_544dup" "r.(?)" "p.(Gln182ArgfsTer5)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 77 "{{screeningid}}" "{{variantid}}" "0000033224" "0000059527" "0000033224" "0000059528" "0000063959" "0000094915" "0000063960" "0000094916" "0000096354" "0000158347" "0000233497" "0000476205" "0000241533" "0000487543" "0000294655" "0000651344" "0000310096" "0000685007" "0000326635" "0000710227" "0000329134" "0000713257" "0000336685" "0000736175" "0000360034" "0000759684" "0000360035" "0000759685" "0000360172" "0000759901" "0000360201" "0000760026" "0000364893" "0000765835" "0000381576" "0000795048" "0000381577" "0000795050" "0000383821" "0000798092" "0000384359" "0000810978" "0000384365" "0000810984" "0000384369" "0000810988" "0000384370" "0000810989" "0000384497" "0000811188" "0000384544" "0000811256" "0000384545" "0000811257" "0000385830" "0000812985" "0000385831" "0000812986" "0000386015" "0000813237" "0000386016" "0000813239" "0000386017" "0000813240" "0000386018" "0000813241" "0000386019" "0000813243" "0000386020" "0000813244" "0000386021" "0000813245" "0000386022" "0000813246" "0000386023" "0000813247" "0000386024" "0000813248" "0000386046" "0000813284" "0000386047" "0000813287" "0000386048" "0000813288" "0000386056" "0000813303" "0000386413" "0000813920" "0000386452" "0000813973" "0000386455" "0000813978" "0000386465" "0000813998" "0000386849" "0000814627" "0000387196" "0000815075" "0000387197" "0000815076" "0000387198" "0000815077" "0000387199" "0000815078" "0000387200" "0000815079" "0000387201" "0000815080" "0000387202" "0000815081" "0000389807" "0000819066" "0000389807" "0000819088" "0000390046" "0000819391" "0000390046" "0000820632" "0000390047" "0000819392" "0000390047" "0000820633" "0000390099" "0000819444" "0000390099" "0000820649" "0000392070" "0000822172" "0000395074" "0000826255" "0000396852" "0000828551" "0000405345" "0000841432" "0000405353" "0000841441" "0000405355" "0000841442" "0000405356" "0000841443" "0000405357" "0000841445" "0000405358" "0000841446" "0000413816" "0000871361" "0000413817" "0000871362" "0000419951" "0000880175" "0000419952" "0000880176" "0000438091" "0000933618"