### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ARL2BP) # 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}}" "ARL2BP" "ADP-ribosylation factor-like 2 binding protein" "16" "q13" "unknown" "NG_033905.1" "UD_132378520425" "" "https://www.LOVD.nl/ARL2BP" "" "1" "17146" "23568" "615407" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/ARL2BP_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2020-08-30 09:00:51" "00006" "2024-01-26 09:51:21" ## 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}}" "00002849" "ARL2BP" "ADP-ribosylation factor-like 2 binding protein" "001" "NM_012106.3" "" "NP_036238.1" "" "" "" "-242" "1858" "492" "57279038" "57287545" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "03946" "RP82" "retinitis pigmentosa, with/without situs inversus (RP82)" "AR" "615434" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2019-12-17 16:21:56" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "05086" "HL" "hearing loss (HL)" "" "" "" "" "" "00006" "2015-10-23 11:41:05" "00006" "2015-10-23 11:43:00" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "ARL2BP" "03946" "ARL2BP" "04214" ## Individuals ## Do not remove or alter this header ## ## Count = 20 "{{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}}" "00155381" "" "" "" "3" "" "01243" "{PMID:Davidson 2013:23849777}" "4-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents/relatives" "M" "yes" "Israel" "" "0" "" "" "Arab-Muslim" "FamMOL0807" "00233372" "" "" "" "3" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233373" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233374" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00271385" "" "" "" "1" "" "00006" "{PMID:Davidson 2013:23849777}" "5-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "M" "yes" "Israel" "" "0" "" "" "European" "FamGC19277" "00271386" "" "" "" "2" "" "00006" "{PMID:Audo 2017:27790702}" "2-generation family, 2 affected sisters (2F), unaffected heterozygous carrier parents" "F" "yes" "Morocco" "" "0" "" "" "" "FamPatCIC01154" "00271387" "" "" "00271386" "1" "" "00006" "{PMID:Audo 2017:27790702}" "" "F" "" "Morocco" "" "0" "" "" "" "FamPatCIC01155" "00271388" "" "" "" "1" "" "00006" "{PMID:Fiorentino 2018:30210231}" "3-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "F" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Fam1PatII4" "00271389" "" "" "" "1" "" "00006" "{PMID:Fiorentino 2018:30210231}" "2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "North African" "Fam2PatIII2" "00308949" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" "" "00308950" "" "" "" "5" "" "00004" "{PMID:Sharon 2019:31456290}" "5 IRD families" "" "" "Israel" "" "0" "" "" "" "" "00328097" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "Europe" "G005193" "00372650" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "family" "M" "" "China" "" "0" "" "" "" "RP245" "00372660" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "patient" "F" "" "China" "" "0" "" "" "" "RP275" "00372710" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "" "" "" "China" "" "0" "" "" "" "RP206" "00383776" "" "" "" "1" "" "00000" "{PMID:Gao 2019:31054281}" "" "?" "" "China" "" "0" "" "" "" "RD18073517_A" "00386226" "" "" "" "1" "" "00000" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "?" "" "Spain" "" "0" "" "" "" "RPN-404" "00390166" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "G005193" "00428030" "" "" "" "1" "" "00006" "{PMID:Bournazos 2022:34906502}" "family, 1 affected" "" "" "Australia" "" "0" "" "" "" "A213" "00447298" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "M" "" "Germany" "" "0" "" "" "" "SRP-1199" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 21 "{{individualid}}" "{{diseaseid}}" "00155381" "04214" "00233372" "04214" "00233373" "04214" "00233374" "04214" "00271385" "04214" "00271385" "05086" "00271386" "04214" "00271387" "04214" "00271388" "04214" "00271389" "04214" "00308949" "04214" "00308950" "04214" "00328097" "04214" "00372650" "04214" "00372660" "04214" "00372710" "04214" "00383776" "04214" "00386226" "04214" "00390166" "04214" "00428030" "00198" "00447298" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 03946, 04214, 05086 ## Count = 18 "{{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}}" "0000127881" "04214" "00155381" "01243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000207991" "04214" "00271385" "00006" "Familial, autosomal recessive" "48y" "retinitis pigmentosa, respiratory failure from early age, required physiotherapy regularly through school years;20s-night-vision problems, ERG confirmed severe rod and /cone dysfunction, progressive loss peripheral vision and later central vision; visual acuities right 0.25/left 0.5, visual fields constricted to 10, fundus examination revealed widespread retinal degeneration with only sparse bone-spicule pigmentation" "" "" "" "" "" "" "" "" "RP82" "retinitis pigmentosa" "" "0000207992" "05086" "00271385" "00006" "Familial, autosomal recessive" "48y" "primary ciliary dyskinesia, recurrent otitis media progressively affecting hearing" "" "" "" "" "" "" "" "" "CILD5" "hearing loss" "" "0000207993" "04214" "00271386" "00006" "Familial, autosomal recessive" "36y" "10s-moderately severe rod-cone dystrophy; 36y-best corrected visual acuity right 20/200 and left counting finger, visual fields <10 degrees; fundus examination typical rod-cone dystrophy signs, atrophic macular changes, X-rays chest no situs inversus" "" "" "" "" "" "" "" "" "RP82" "retinitis pigmentosa" "" "0000207994" "04214" "00271387" "00006" "Familial, autosomal recessive" "27y" "10s-moderately severe rod-cone dystrophy; 2y best corrected visual acuity both eyes 20/25, visual fields reduced 30degrees" "" "" "" "" "" "" "" "" "RP82" "retinitis pigmentosa" "" "0000207995" "04214" "00271388" "00006" "Familial, autosomal recessive" "" "retinitis pigmentosa, no syndromic features" "" "" "" "" "" "" "" "" "RP82" "retinitis pigmentosa" "" "0000207996" "04214" "00271389" "00006" "Familial, autosomal recessive" "36y" "see paper; ..." "" "" "" "" "" "" "" "" "RP82" "retinitis pigmentosa" "" "0000234269" "04214" "00308949" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000234270" "04214" "00308950" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246324" "04214" "00328097" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000267929" "04214" "00372650" "00000" "Familial, autosomal dominant" "60y" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000267939" "04214" "00372660" "00000" "Familial, autosomal recessive" "23y" "see paper; ..." "16y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000267989" "04214" "00372710" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000277561" "04214" "00383776" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000280029" "04214" "00386226" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000283704" "04214" "00390166" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "retinal disease" "retinal disease" "" "0000318976" "00198" "00428030" "00006" "Familial, autosomal recessive" "15y" "" "" "" "" "" "" "" "" "" "" "" "" "0000336497" "00198" "00447298" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, simplex" "" ## Screenings ## Do not remove or alter this header ## ## Count = 20 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000156246" "00155381" "1" "01243" "01243" "2018-03-18 14:37:15" "" "" "SEQ" "DNA" "" "" "0000234471" "00233372" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234472" "00233373" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234473" "00233374" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000272536" "00271385" "1" "00006" "00006" "2019-12-19 09:19:56" "00006" "2019-12-19 09:34:45" "arraySNP;SEQ;SEQ-NG" "DNA" "" "WES" "0000272537" "00271386" "1" "00006" "00006" "2019-12-19 09:58:59" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "" "0000272538" "00271387" "1" "00006" "00006" "2019-12-19 10:04:45" "" "" "SEQ" "DNA" "" "" "0000272539" "00271388" "1" "00006" "00006" "2019-12-19 10:12:16" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000272540" "00271389" "1" "00006" "00006" "2019-12-19 10:12:16" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000310094" "00308949" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000310095" "00308950" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000329312" "00328097" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000373882" "00372650" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000373892" "00372660" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000373942" "00372710" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000385001" "00383776" "1" "00000" "03840" "2021-09-29 12:39:39" "" "" "SEQ-NG" "DNA" "" "" "0000387455" "00386226" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000391407" "00390166" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing" "0000429443" "00428030" "1" "00006" "00006" "2022-12-19 13:11:26" "" "" "RT-PCR;SEQ;SEQ-NG-RNA" "DNA;RNA" "whole blood" "singleton WES" "0000448875" "00447298" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 16 "{{screeningid}}" "{{geneid}}" "0000156246" "ARL2BP" "0000234471" "ARL2BP" "0000234472" "ARL2BP" "0000234473" "ARL2BP" "0000272536" "ARL2BP" "0000272536" "HYDIN" "0000272537" "ARL2BP" "0000272538" "ARL2BP" "0000272539" "ARL2BP" "0000272540" "ARL2BP" "0000310094" "ARL2BP" "0000310095" "ARL2BP" "0000329312" "ARL2BP" "0000385001" "RP2" "0000387455" "ARL2BP" "0000391407" "ARL2BP" ## 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 = 29 "{{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}}" "0000247416" "0" "50" "16" "57282485" "57282485" "subst" "0" "02330" "ARL2BP_000001" "g.57282485A>G" "" "" "" "ARL2BP(NM_012106.4):c.137A>G (p.D46G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57248573A>G" "" "VUS" "" "0000258342" "0" "30" "16" "57282555" "57282555" "subst" "9.44564E-5" "02330" "ARL2BP_000002" "g.57282555C>T" "" "" "" "ARL2BP(NM_012106.3):c.207C>T (p.Y69=), ARL2BP(NM_012106.4):c.207C>T (p.Y69=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57248643C>T" "" "likely benign" "" "0000258343" "0" "30" "16" "57286172" "57286172" "subst" "0.00124679" "02330" "ARL2BP_000003" "g.57286172G>A" "" "" "" "ARL2BP(NM_012106.3):c.485G>A (p.R162Q), ARL2BP(NM_012106.4):c.485G>A (p.R162Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57252260G>A" "" "likely benign" "" "0000358168" "3" "90" "16" "57282448" "57282448" "subst" "0" "01243" "ARL2BP_000004" "g.57282448G>C" "" "{PMID:Davidson 2013:23849777}" "" "" "" "Germline" "yes" "" "0" "" "" "g.57248536G>C" "" "pathogenic (recessive)" "" "0000477179" "0" "50" "16" "57279311" "57279311" "subst" "0" "02591" "ARL2BP_000005" "g.57279311T>C" "3/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.57245399T>C" "" "VUS" "" "0000477180" "3" "90" "16" "57279316" "57279317" "del" "0" "02591" "ARL2BP_000006" "g.57279316_57279317del" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs754087233" "0" "" "" "g.57245404_57245405del" "" "pathogenic" "" "0000477181" "3" "50" "16" "57280027" "57280027" "subst" "0" "02591" "ARL2BP_000007" "g.57280027T>A" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.57246115T>A" "" "VUS" "" "0000558595" "0" "70" "16" "57280054" "57280054" "subst" "0" "02330" "ARL2BP_000008" "g.57280054G>C" "" "" "" "ARL2BP(NM_012106.4):c.100+1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.57246142G>C" "" "likely pathogenic" "" "0000558596" "0" "30" "16" "57286068" "57286068" "subst" "0.00154355" "01943" "ARL2BP_000009" "g.57286068T>A" "" "" "" "ARL2BP(NM_012106.3):c.391-10T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.57252156T>A" "" "likely benign" "" "0000616054" "0" "30" "16" "57282555" "57282555" "subst" "9.44564E-5" "01943" "ARL2BP_000002" "g.57282555C>T" "" "" "" "ARL2BP(NM_012106.3):c.207C>T (p.Y69=), ARL2BP(NM_012106.4):c.207C>T (p.Y69=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.57248643C>T" "" "likely benign" "" "0000626465" "3" "90" "16" "57282482" "57282482" "subst" "2.09788E-5" "00006" "ARL2BP_000010" "g.57282482T>G" "" "{PMID:Davidson 2013:23849777}" "" "" "" "Germline" "" "" "0" "" "" "g.57248570T>G" "" "pathogenic (recessive)" "" "0000626467" "3" "90" "16" "57282556" "57282556" "subst" "4.72095E-6" "00006" "ARL2BP_000011" "g.57282556G>T" "1/358 cases arRP" "{PMID:Audo 2017:27790702}" "" "" "" "Germline" "yes" "" "0" "" "" "g.57248644G>T" "" "pathogenic (recessive)" "" "0000626468" "3" "90" "16" "57282556" "57282556" "subst" "4.72095E-6" "00006" "ARL2BP_000011" "g.57282556G>T" "" "{PMID:Audo 2017:27790702}" "" "" "" "Germline" "yes" "" "0" "" "" "g.57248644G>T" "" "pathogenic (recessive)" "" "0000626469" "3" "90" "16" "57284424" "57284424" "subst" "0" "00006" "ARL2BP_000012" "g.57284424G>A" "1/1051 cases RD" "{PMID:Fiorentino 2018:30210231}" "" "" "" "Germline" "" "" "0" "" "" "g.57250512G>A" "" "pathogenic (recessive)" "" "0000626470" "3" "90" "16" "57282556" "57282556" "subst" "0.000118024" "00006" "ARL2BP_000013" "g.57282556G>A" "1/1051 cases RD" "{PMID:Fiorentino 2018:30210231}" "" "" "" "Germline" "" "" "0" "" "" "g.57248644G>A" "" "pathogenic (recessive)" "" "0000685005" "0" "90" "16" "57279319" "57279319" "subst" "0" "00004" "ARL2BP_000014" "g.57279319T>G" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000685006" "0" "90" "16" "57282448" "57282448" "subst" "0" "00004" "ARL2BP_000004" "g.57282448G>C" "5/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000713435" "3" "90" "16" "57282556" "57282556" "subst" "0.000118024" "00000" "ARL2BP_000013" "g.57282556G>A" "" "{PMID:Carss 2017:28041643}" "" "16:57282556G>A ENST00000219204.3:c.207+1G>A" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000784448" "0" "50" "16" "57286068" "57286068" "subst" "0.00154355" "00000" "ARL2BP_000009" "g.57286068T>A" "3/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "rs148264536" "0" "" "" "g.57252156T>A" "" "VUS" "" "0000784468" "0" "50" "16" "57286068" "57286068" "subst" "0.00154355" "00000" "ARL2BP_000009" "g.57286068T>A" "3/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "rs148264536" "0" "" "" "g.57252156T>A" "" "VUS" "" "0000784486" "0" "50" "16" "57286068" "57286068" "subst" "0.00154355" "00000" "ARL2BP_000009" "g.57286068T>A" "3/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "rs148264536" "0" "" "" "g.57252156T>A" "" "VUS" "" "0000807479" "0" "90" "16" "57282556" "57282556" "subst" "0.000118024" "02327" "ARL2BP_000013" "g.57282556G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000807480" "0" "30" "16" "57286172" "57286172" "subst" "0.00124679" "01943" "ARL2BP_000003" "g.57286172G>A" "" "" "" "ARL2BP(NM_012106.3):c.485G>A (p.R162Q), ARL2BP(NM_012106.4):c.485G>A (p.R162Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000811884" "0" "70" "6" "57282504" "57282504" "subst" "0" "00000" "ARL2BP_000001" "g.57282504T>G" "" "{PMID:Gao 2019:31054281}" "" "c.156T>G, p.Phe52Leu" "heterozygous" "Germline" "?" "" "0" "" "" "g.57248592T>G" "" "likely pathogenic" "" "0000815339" "0" "50" "16" "57286172" "57286172" "subst" "0.00124679" "00000" "ARL2BP_000003" "g.57286172G>A" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "ARL2BP:NM_012106 c.G485A, p.R162Q" "heterozygous, individual unsolved, causality of variants unknown" "Germline" "?" "" "0" "" "" "g.57252260G>A" "" "VUS" "ACMG" "0000821156" "3" "70" "16" "57282556" "57282556" "subst" "0.000118024" "00000" "ARL2BP_000013" "g.57282556G>A" "" "{PMID:Turro 2020:32581362}" "" "ARL2BP c.207+1G>A," "homozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.57248644G>A" "" "likely pathogenic" "" "0000893097" "0" "50" "16" "57280053" "57280053" "subst" "0" "02330" "ARL2BP_000015" "g.57280053G>C" "" "" "" "ARL2BP(NM_012106.4):c.100G>C (p.D34H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000908916" "3" "70" "16" "57283769" "57283769" "subst" "1.2185E-5" "00006" "ARL2BP_000016" "g.57283769G>A" "" "{PMID:Bournazos 2022:34906502}" "" "" "exon skipping, pseudo-exon insertion, intron retention" "Germline/De novo (untested)" "" "" "0" "" "" "g.57249857G>A" "" "likely pathogenic (recessive)" "" "0000958647" "0" "70" "16" "57284322" "57284322" "subst" "0" "00006" "ARL2BP_000017" "g.57284322G>C" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1" "Germline" "" "" "0" "" "" "g.57250410G>C" "" "likely pathogenic (recessive)" "ACMG" ## 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 ARL2BP ## Count = 29 "{{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}}" "0000247416" "00002849" "50" "137" "0" "137" "0" "c.137A>G" "r.(?)" "p.(Asp46Gly)" "" "0000258342" "00002849" "30" "207" "0" "207" "0" "c.207C>T" "r.(?)" "p.(Tyr69=)" "" "0000258343" "00002849" "30" "485" "0" "485" "0" "c.485G>A" "r.(?)" "p.(Arg162Gln)" "" "0000358168" "00002849" "90" "101" "-1" "101" "-1" "c.101-1G>C" "r.[100_101ins[101-110_101-2;c],100_101ins[101-122_101-2;c],101-114del,101-108del,101_207del]" "p.[Asp34Alafs*9,Asp34Glufs*5]" "2i" "0000477179" "00002849" "50" "32" "0" "32" "0" "c.32T>C" "r.(?)" "p.(Leu11Pro)" "" "0000477180" "00002849" "90" "37" "0" "38" "0" "c.37_38del" "r.(?)" "p.(Phe13Leufs*5)" "" "0000477181" "00002849" "50" "74" "0" "74" "0" "c.74T>A" "r.(?)" "p.(Val25Asp)" "" "0000558595" "00002849" "70" "100" "1" "100" "1" "c.100+1G>C" "r.spl?" "p.?" "" "0000558596" "00002849" "30" "391" "-10" "391" "-10" "c.391-10T>A" "r.(=)" "p.(=)" "" "0000616054" "00002849" "30" "207" "0" "207" "0" "c.207C>T" "r.(?)" "p.(Tyr69=)" "" "0000626465" "00002849" "90" "134" "0" "134" "0" "c.134T>G" "r.(?)" "p.(Met45Arg)" "" "0000626467" "00002849" "90" "207" "1" "207" "1" "c.207+1G>T" "r.101_207del" "p.Asp35Phefs*8" "" "0000626468" "00002849" "90" "207" "1" "207" "1" "c.207+1G>T" "r.101_207del" "p.Asp35Phefs*8" "" "0000626469" "00002849" "90" "390" "5" "390" "5" "c.390+5G>A" "r.[294_390del,390_391ins[gtaaa;390+6_390+55],390_391ins[gtaaa;390+6_390+189],390_391ins[gtaaa;390+6_390+509]]" "p.[His99Lysfs*9,Glu131Glyfs*9]" "" "0000626470" "00002849" "90" "207" "1" "207" "1" "c.207+1G>A" "r.101_207del" "p.Asp35Phefs*8" "" "0000685005" "00002849" "90" "38" "2" "38" "2" "c.38+2T>G" "r.spl" "p.?" "" "0000685006" "00002849" "90" "101" "-1" "101" "-1" "c.101-1G>C" "r.spl" "p.?" "" "0000713435" "00002849" "90" "207" "1" "207" "1" "c.207+1G>A" "r.spl?" "p.?" "" "0000784448" "00002849" "50" "391" "-10" "391" "-10" "c.391-10T>A" "r.(=)" "p.(=)" "" "0000784468" "00002849" "50" "391" "-10" "391" "-10" "c.391-10T>A" "r.(=)" "p.(=)" "" "0000784486" "00002849" "50" "391" "-10" "391" "-10" "c.391-10T>A" "r.(=)" "p.(=)" "" "0000807479" "00002849" "90" "207" "1" "207" "1" "c.207+1G>A" "r.spl?" "p.?" "" "0000807480" "00002849" "30" "485" "0" "485" "0" "c.485G>A" "r.(?)" "p.(Arg162Gln)" "" "0000811884" "00002849" "70" "156" "0" "156" "0" "c.156T>G" "r.(?)" "p.(Phe52Leu)" "" "0000815339" "00002849" "50" "485" "0" "485" "0" "c.485G>A" "r.(?)" "p.(Arg162Gln)" "" "0000821156" "00002849" "70" "207" "1" "207" "1" "c.207+1G>A" "r.spl" "p.(?)" "" "0000893097" "00002849" "50" "100" "0" "100" "0" "c.100G>C" "r.(?)" "p.(Asp34His)" "" "0000908916" "00002849" "70" "293" "5" "293" "5" "c.293+5G>A" "r.[208_293del,208_293delins[293+63_293+260],293_294ins[gugaa;293+6_294-1]]" "p.[Ile70Alafs*3,Ile70Alafs*18,His99*]" "" "0000958647" "00002849" "70" "294" "-1" "294" "-1" "c.294-1G>C" "r.spl" "p.?" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 20 "{{screeningid}}" "{{variantid}}" "0000156246" "0000358168" "0000234471" "0000477179" "0000234472" "0000477180" "0000234473" "0000477181" "0000272536" "0000626465" "0000272537" "0000626467" "0000272538" "0000626468" "0000272539" "0000626469" "0000272540" "0000626470" "0000310094" "0000685005" "0000310095" "0000685006" "0000329312" "0000713435" "0000373882" "0000784468" "0000373892" "0000784486" "0000373942" "0000784448" "0000385001" "0000811884" "0000387455" "0000815339" "0000391407" "0000821156" "0000429443" "0000908916" "0000448875" "0000958647"