### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ARL3) # 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}}" "ARL3" "ADP-ribosylation factor-like 3" "10" "q23.3" "unknown" "NC_000010.10" "UD_132319372378" "" "https://www.LOVD.nl/ARL3" "" "1" "694" "403" "604695" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/ARL3_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2021-01-18 09:53:50" "00006" "2024-01-26 10:26:49" ## 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}}" "00002850" "ARL3" "ADP-ribosylation factor-like 3" "001" "NM_004311.3" "" "NP_004302.1" "" "" "" "-158" "3716" "549" "104474190" "104433484" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 8 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00112" "RP" "retinitis pigmentosa (RP)" "" "268000" "" "" "" "00001" "2013-02-21 17:12:36" "00006" "2021-01-18 09:53:26" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "02387" "RP19" "retinitis pigmentosa, type 19 (RP19)" "AR" "601718" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "04250" "-" "retinal degeneration" "" "" "" "" "" "00006" "2015-05-04 22:12:01" "" "" "05109" "JBTS" "Joubert syndrome (JBTS)" "" "" "" "" "" "00006" "2016-01-09 00:37:44" "" "" "05706" "RP83" "retinitis pigmentosa, type 83 (RP83)" "AD" "618173" "" "" "" "00006" "2020-02-26 12:18:28" "" "" "05707" "JBTS35" "Joubert syndrome, type 35 (JBTS35)" "AR" "618161" "" "" "" "00006" "2020-02-26 12:19:27" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{geneid}}" "{{diseaseid}}" "ARL3" "00112" "ARL3" "05109" "ARL3" "05706" "ARL3" "05707" ## Individuals ## Do not remove or alter this header ## ## Count = 22 "{{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}}" "00179519" "" "" "" "1" "" "02473" "{PMID:Alkanderi 2018:30269812}" "2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "M" "yes" "Saudi Arabia" ">05y" "0" "" "" "" "JBTS_Fam1_II_5" "00179520" "" "" "" "3" "" "02473" "{PMID:Alkanderi 2018:30269812}" "2-generation family, 2 affected sisters, unaffected heterozygous carrier parents/relatives" "F" "" "Pakistan" ">21y" "0" "" "" "" "JBTS_Fam2_II_1" "00179521" "" "" "00179520" "1" "" "02473" "{PMID:Alkanderi 2018:30269812}" "sister" "F" "yes" "Pakistan" ">12y" "0" "" "" "" "JBTS_Fam2_II_4" "00179522" "" "" "00179520" "1" "" "02473" "{PMID:Alkanderi 2018:30269812}" "sister" "F" "yes" "Pakistan" ">09y" "0" "" "" "" "JBTS_Fam2_II_5" "00233183" "" "" "" "6" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233184" "" "" "" "3" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1203 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233185" "" "" "" "2" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233186" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00289071" "" "" "" "3" "" "00006" "{PMID:Strom 2016:26964041}" "3-generation family, 3 affected (2F, M), mother" "F" "" "United States" "" "0" "" "" "" "FamPatII1" "00289072" "" "" "00289071" "1" "" "00006" "{PMID:Strom 2016:26964041}" "son" "M" "" "United States" "" "0" "" "" "" "FamPatIII1" "00289073" "" "" "00289071" "1" "" "00006" "{PMID:Strom 2016:26964041}" "daugther" "F" "" "United States" "" "0" "" "" "" "FamPatIII2" "00326994" "" "" "" "1" "" "03979" "" "" "M" "" "China" "" "" "" "" "" "Hongyang-ARL3" "00375519" "" "" "" "1" "" "04090" "" "four-generation family with five affected one unaffected members" "" "" "" "" "" "" "" "" "" "00392343" "" "" "" "1" "" "00000" "{PMID:Xiao-2021:33598457}" "" "M" "" "China" "" "0" "" "" "" "191484" "00404064" "" "" "" "2" "" "00006" "{PMID:Holtan 2019:30932721}" "2-generation family, affected, affected father/son" "M" "" "Norway" "" "0" "" "" "" "FamPatII1" "00404096" "" "" "00404064" "1" "" "00006" "{PMID:Holtan 2019:30932721}" "son" "M" "" "Norway" "" "0" "" "" "" "FamPatIII1" "00404097" "" "" "" "7" "" "00006" "{PMID:Ratnapriya 2021:34485303}" "5-generation family, 7 affected (4F, 3M)" "F;M" "" "United States" "" "0" "" "" "" "family" "00404104" "" "" "" "1" "" "00006" "{PMID:Sheikh 2019:31743939}" "5-generation family, 4 affected (2F, 2M), unaffected heterozygous carrier parents/relatives" "F;M" "yes" "Pakistan" "" "0" "" "" "" "FamLUSG03" "00404105" "" "" "" "1" "" "00006" "{PMID:Sheikh 2019:31743939}" "4-generation family, 4 affected (F, 3M), unaffected heterozygous carrier parents/relatives" "F;M" "yes" "Pakistan" "" "0" "" "" "" "FamLUSG04" "00404106" "" "" "" "1" "" "00006" "{PMID:Fu 2021:33748123}" "2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "M" "yes" "China" "" "0" "" "" "" "family" "00447530" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "F" "" "Germany" "" "0" "" "" "" "CD-625" "00447545" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "F" "" "Germany" "" "0" "" "" "" "CRD-850" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 22 "{{individualid}}" "{{diseaseid}}" "00179519" "05109" "00179520" "05109" "00179521" "05109" "00179522" "05109" "00233183" "04214" "00233184" "04214" "00233185" "04214" "00233186" "04214" "00289071" "04214" "00289072" "04214" "00289073" "04214" "00326994" "02387" "00375519" "04250" "00392343" "04214" "00404064" "00112" "00404096" "00112" "00404097" "00112" "00404104" "04214" "00404105" "04214" "00404106" "04214" "00447530" "00198" "00447545" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00112, 00198, 02387, 04214, 04250, 05109, 05706, 05707 ## 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}}" "0000141999" "05109" "00179519" "02473" "Familial, autosomal recessive" "05y" "developmental delay, ataxia\r\nptosis, rod cone dystrophy, night blindness, bilateral visual pathway involvement; left multicystic dysplastic kidney, right grade I hydronephrosis\r\nSingle palmar crease, pectus carinatum, normal Auditory Brainstem Response" "00y03m" "05y" "" "" "" "" "" "" "JBTS35" "Joubert Syndrome" "" "0000142000" "05109" "00179520" "02473" "Familial, autosomal recessive" "21y" "Developmental delay, ataxia\r\nRod cone dystrophy, night blindness, progressive visual loss\r\nRecurrent UTI\r\nRenal scarring bilaterally\r\nThermoregulation problems;\r\nepisode of transverse myelitis" "00y06m" "21y" "" "" "" "" "" "" "Joubert syndrome" "Joubert syndrome" "" "0000142001" "05109" "00179521" "02473" "Familial, autosomal recessive" "12y" "Developmental delay, ataxia\r\nRod cone dystrophy, night blindness, progressive visual loss\r\nNormal renal USS\r\nThermoregulation problems;\r\nsleep apnoea" "00y06m" "12y" "" "" "" "" "" "" "Joubert Syndrome" "Joubert syndrome" "" "0000142002" "05109" "00179522" "02473" "Familial, autosomal recessive" "09y" "Developmental delay, ataxia\r\nRod cone dystrophy, night blindness, progressive visual loss, oculomotor apraxia\r\nRecurrent UTI\r\nUnequal kidney size" "00y06m" "09y" "" "" "" "" "" "" "Joubert syndrome" "Joubert syndrome" "" "0000222703" "04214" "00289071" "00006" "Isolated (sporadic)" "" "difficulty reading, mild decreased visual acuity, bilateral visual field concentric constriction; 41y-cataract surgery; visual acuity right eye 20/60, left eye 20/80; intraocular pressures right 12, left 10; visual fields “central islands” bilaterally, retina showed classic pattern of mid-peripheral pattern of pigmentation with attenuated vessels; optical coherence tomography showed no edema; no other relevant medical problems" "" "" "difficulty reading" "" "" "" "" "" "RP83" "retinitis pigmentosa" "" "0000222704" "04214" "00289072" "00006" "Familial, autosomal dominant" "30y" "retinitis pigmentosa, related cystoid macular edema; bothered by light flashes severe enough to be almost disabling; floaters, progressive loss peripheral vision; had different surgical procedures as Lasik OU (2003), cataract removal OD (2008), Yag, 12y and 14y-strabismus for exotropia 15–20del; acuity right 20/20, left 20/25+2; intraocular pressures right 13, left 14; both visual fields constricted; posterior subcapsular cataract left eye only, intraocular lens right eye only; no other relevant medical problems" "" "" "" "" "" "" "" "" "RP83" "retinitis pigmentosa" "" "0000222705" "04214" "00289073" "00006" "Familial, autosomal dominant" "27y" "late onset nyctalopia, decreased vision, difficulty reading and driving, flashes and floaters for several years, progressive loss of peripheral vision; medical history of difficulties with gait, headaches, difficulties with balance,\r\nincreased urinary frequency, severe ankle swelling (partially responsive to Lasix, possibly familial lymphedema); visual acuity right 20/80-1, left 20/60-2; intraocular pressures right 13, left 14; bilateral visual field constriction; posterior subcapsular cataract left eye; intraocular lens right eye only; fundus vitreous floater right eye; bilateral attenuation retinal vessels, bone-spicules periphery; optical coherence tomography cystoid macular edema" "" "" "" "" "" "" "" "" "RP83" "retinitis pigmentosa" "" "0000245457" "02387" "00326994" "03979" "Familial, autosomal recessive" "18y" "rod-cone dystrophy" "14y" "18y" "nyctalopia, peripheral field loss" "ARL3" "" "" "" "" "rod-cone dystrophy" "rod-cone dystrophy" "" "0000270733" "04250" "00375519" "04090" "Familial, autosomal dominant" "" "Progressive retinal degeneration with maculopathy" "" "" "" "" "" "" "" "" "" "" "" "0000285619" "04214" "00392343" "00000" "Familial, autosomal dominant" "19y" "best corrected visual acuity right/left eye: 0.05/0.07, electroretinograhy responses: extinguished" "9y" "" "" "" "" "" "" "" "Retinitis pigmentosa, autosomal dominant" "Retinitis pigmentosa, autosomal dominant" "" "0000296684" "00112" "00404064" "00006" "Familial, autosomal dominant" "57y" "see paper; ..." "" "" "" "" "" "" "" "" "RP83" "retinitis pigmentos" "" "0000296685" "00112" "00404096" "00006" "Familial, autosomal dominant" "17y" "see paper; ...," "" "" "" "" "" "" "" "" "RP83" "retinitis pigmentos" "" "0000296686" "00112" "00404097" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "RP83" "retinitis pigmentos" "" "0000296693" "04214" "00404104" "00006" "Familial, autosomal recessive" "" "see paper; ..., bilateral vision impairment, no cornea opacity, no color vision, no night blindness" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000296694" "04214" "00404105" "00006" "Familial, autosomal recessive" "" "see paper; ..., bilateral vision impairment, no cornea opacity, no color vision, no night blindness" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000296695" "04214" "00404106" "00006" "Familial, autosomal recessive" "" "see paper; ..., typical cone-rod dystrophy, decrease of vision, nyctalopia" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000336729" "00198" "00447530" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cone dystrophy" "" "0000336744" "00198" "00447545" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" ## Screenings ## Do not remove or alter this header ## ## Count = 23 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000180422" "00179519" "1" "02473" "02473" "2018-08-23 22:32:59" "" "" "SEQ-NG-I" "DNA" "" "WES" "0000180423" "00179520" "1" "02473" "02473" "2018-08-24 08:58:05" "" "" "SEQ-NG-I" "DNA" "" "WES" "0000180424" "00179521" "1" "02473" "02473" "2018-08-24 09:13:01" "" "" "SEQ-NG-I" "DNA" "" "WES" "0000180425" "00179522" "1" "02473" "02473" "2018-08-24 09:16:58" "" "" "SEQ-NG-I" "DNA" "" "WES" "0000234282" "00233183" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234283" "00233184" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234284" "00233185" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234285" "00233186" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000290241" "00289071" "1" "00006" "00006" "2020-02-29 08:28:36" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000290242" "00289072" "1" "00006" "00006" "2020-02-29 08:28:36" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000290243" "00289073" "1" "00006" "00006" "2020-02-29 08:28:36" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000328206" "00326994" "1" "03979" "03979" "2021-01-18 06:28:10" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000328207" "00326994" "1" "03979" "03979" "2021-01-18 06:42:03" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000376716" "00375519" "1" "04090" "04090" "2021-06-07 18:45:56" "" "" "SEQ-NG-I" "DNA" "" "" "0000393585" "00392343" "1" "00000" "03840" "2021-11-22 16:18:49" "" "" "SEQ-NG" "DNA" "blood" "gene panel testing" "0000405333" "00404064" "1" "00006" "00006" "2022-02-27 09:29:41" "" "" "SEQ" "DNA" "" "WES" "0000405334" "00404096" "1" "00006" "00006" "2022-02-27 09:33:14" "" "" "SEQ" "DNA" "" "" "0000405335" "00404097" "1" "00006" "00006" "2022-02-27 09:42:05" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000405342" "00404104" "1" "00006" "00006" "2022-02-27 15:59:29" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000405343" "00404105" "1" "00006" "00006" "2022-02-27 15:59:29" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000405344" "00404106" "1" "00006" "00006" "2022-02-27 15:59:29" "00006" "2022-02-27 16:07:10" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000449107" "00447530" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000449122" "00447545" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 12 "{{screeningid}}" "{{geneid}}" "0000234282" "ARL3" "0000234283" "ARL3" "0000234284" "ARL3" "0000234285" "ARL3" "0000290241" "ARL3" "0000290242" "ARL3" "0000290243" "ARL3" "0000328206" "ARL3" "0000328207" "ARL3" "0000376716" "ARL3" "0000393585" "ARL3" "0000405334" "ARL3" ## 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 = 30 "{{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}}" "0000262963" "0" "10" "10" "104465136" "104465136" "subst" "0.00235462" "01943" "ARL3_000001" "g.104465136T>C" "" "" "" "ARL3(NM_004311.4):c.114A>G (p.A38=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102705379T>C" "" "benign" "" "0000403905" "3" "90" "10" "104445629" "104445629" "subst" "3.24989E-5" "02473" "ARL3_000002" "g.104445629G>A" "" "{PMID:Alkanderi 2018:30269812}" "" "" "" "Germline" "yes" "" "0" "" "" "g.102685872G>A" "" "pathogenic (recessive)" "" "0000403906" "3" "90" "10" "104445628" "104445628" "subst" "4.06286E-6" "02473" "ARL3_000003" "g.104445628C>T" "" "{PMID:Alkanderi 2018:30269812}" "" "" "" "Germline" "yes" "" "0" "" "" "g.102685871C>T" "" "pathogenic (recessive)" "" "0000403907" "3" "90" "10" "104445628" "104445628" "subst" "4.06286E-6" "02473" "ARL3_000003" "g.104445628C>T" "" "{PMID:Alkanderi 2018:30269812}" "" "" "" "Germline" "yes" "" "0" "" "" "g.102685871C>T" "" "pathogenic (recessive)" "" "0000403908" "3" "90" "10" "104445628" "104445628" "subst" "4.06286E-6" "02473" "ARL3_000003" "g.104445628C>T" "" "{PMID:Alkanderi 2018:30269812}" "" "" "" "Germline" "yes" "" "0" "" "" "g.102685871C>T" "" "pathogenic (recessive)" "" "0000476990" "0" "50" "10" "104445670" "104445670" "subst" "0.00024771" "02591" "ARL3_000004" "g.104445670G>A" "6/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs201771386" "0" "" "" "g.102685913G>A" "" "VUS" "" "0000476991" "0" "50" "10" "104445721" "104445721" "subst" "6.91861E-5" "02591" "ARL3_000005" "g.104445721C>A" "3/1203 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs551366324" "0" "" "" "g.102685964C>A" "" "VUS" "" "0000476992" "0" "50" "10" "104449657" "104449657" "subst" "0" "02591" "ARL3_000006" "g.104449657G>A" "2/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs370505468" "0" "" "" "g.102689900G>A" "" "VUS" "" "0000476993" "0" "50" "10" "104459239" "104459239" "subst" "0" "02591" "ARL3_000007" "g.104459239T>G" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.102699482T>G" "" "VUS" "" "0000538980" "0" "30" "10" "104449656" "104449656" "subst" "1.23634E-5" "02330" "ARL3_000008" "g.104449656C>T" "" "" "" "ARL3(NM_004311.4):c.309G>A (p.T103=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102689899C>T" "" "likely benign" "" "0000538981" "0" "50" "10" "104459228" "104459228" "subst" "0.000111788" "01943" "ARL3_000009" "g.104459228C>T" "" "" "" "ARL3(NM_004311.4):c.166G>A (p.V56I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102699471C>T" "" "VUS" "" "0000538982" "0" "10" "10" "104465136" "104465136" "subst" "0.00235462" "02330" "ARL3_000001" "g.104465136T>C" "" "" "" "ARL3(NM_004311.4):c.114A>G (p.A38=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102705379T>C" "" "benign" "" "0000646891" "0" "90" "10" "104449696" "104449696" "subst" "0" "00006" "ARL3_000010" "g.104449696T>C" "" "{PMID:Strom 2016:26964041}" "" "" "" "De novo" "" "" "0" "" "" "g.102689939T>C" "" "pathogenic (dominant)" "" "0000646892" "21" "90" "10" "104449696" "104449696" "subst" "0" "00006" "ARL3_000010" "g.104449696T>C" "" "{PMID:Strom 2016:26964041}" "" "" "" "Germline" "yes" "" "0" "" "" "g.102689939T>C" "" "pathogenic (dominant)" "" "0000646893" "21" "90" "10" "104449696" "104449696" "subst" "0" "00006" "ARL3_000010" "g.104449696T>C" "" "{PMID:Strom 2016:26964041}" "" "" "" "Germline" "yes" "" "0" "" "" "g.102689939T>C" "" "pathogenic (dominant)" "" "0000712143" "11" "90" "10" "104465159" "104465159" "subst" "0" "03979" "ARL3_000011" "g.104465159T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.102705402T>C" "" "likely pathogenic (recessive)" "ACMG" "0000712144" "21" "90" "10" "104445721" "104445721" "subst" "6.91861E-5" "03979" "ARL3_000005" "g.104445721C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.102685964C>A" "" "likely pathogenic (recessive)" "ACMG" "0000788612" "11" "70" "10" "104459194" "104459194" "subst" "0" "04090" "ARL3_000012" "g.104459194T>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.102699437T>A" "" "pathogenic (dominant)" "" "0000804276" "0" "30" "10" "104459122" "104459122" "subst" "0" "01943" "ARL3_000013" "g.104459122G>A" "" "" "" "ARL3(NM_004311.4):c.264+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000824364" "0" "90" "10" "104459182" "104459182" "subst" "0" "00000" "ARL3_000014" "g.104459182T>G" "" "{PMID:Xiao-2021:33598457}" "" "ARL3 c.212A>C, p.(Q71P)" "" "Unknown" "yes" "" "0" "" "" "g.102699425T>G" "" "pathogenic" "ACMG" "0000841418" "0" "90" "10" "104449696" "104449696" "subst" "0" "00006" "ARL3_000010" "g.104449696T>C" "" "{PMID:Holtan 2019:30932721}" "" "" "" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000841419" "11" "90" "10" "104449696" "104449696" "subst" "0" "00006" "ARL3_000010" "g.104449696T>C" "" "{PMID:Holtan 2019:30932721}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000841420" "1" "90" "10" "104459194" "104459194" "subst" "0" "00006" "ARL3_000012" "g.104459194T>A" "" "{PMID:Ratnapriya 2021:34485303}" "" "A200T" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000841428" "3" "90" "10" "104449669" "104449669" "subst" "0" "00006" "ARL3_000015" "g.104449669C>A" "" "{PMID:Sheikh 2019:31743939}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000841429" "3" "90" "10" "104449669" "104449669" "subst" "0" "00006" "ARL3_000015" "g.104449669C>A" "" "{PMID:Sheikh 2019:31743939}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000841430" "11" "90" "10" "104465159" "104465159" "subst" "0" "00006" "ARL3_000011" "g.104465159T>C" "" "{PMID:Fu 2021:33748123}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "ACMG" "0000841431" "21" "90" "10" "104445721" "104445721" "subst" "6.91861E-5" "00006" "ARL3_000005" "g.104445721C>A" "" "{PMID:Fu 2021:33748123}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "ACMG" "0000861809" "0" "70" "10" "104449702" "104449702" "subst" "0" "01943" "ARL3_000016" "g.104449702T>C" "" "" "" "ARL3(NM_004311.4):c.265-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000958874" "0" "50" "10" "104459186" "104459186" "subst" "0" "00006" "ARL3_000018" "g.104459186C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2" "Germline/De novo (untested)" "" "" "0" "" "" "g.102699429C>T" "" "VUS" "ACMG" "0000958889" "0" "50" "10" "104445655" "104445655" "subst" "1.21829E-5" "00006" "ARL3_000017" "g.104445655G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2" "Germline/De novo (untested)" "" "" "0" "" "" "g.102685898G>A" "" "VUS" "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 ARL3 ## Count = 30 "{{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}}" "0000262963" "00002850" "10" "114" "0" "114" "0" "c.114A>G" "r.(?)" "p.(Ala38=)" "" "0000403905" "00002850" "90" "445" "0" "445" "0" "c.445C>T" "r.(445c>u)" "p.(Arg149Cys)" "" "0000403906" "00002850" "90" "446" "0" "446" "0" "c.446G>A" "r.(446g>a)" "p.(Arg149His)" "" "0000403907" "00002850" "90" "446" "0" "446" "0" "c.446G>A" "r.(446g>a)" "p.(Arg149His)" "" "0000403908" "00002850" "90" "446" "0" "446" "0" "c.446G>A" "r.(446g>a)" "p.(Arg149His)" "" "0000476990" "00002850" "50" "404" "0" "404" "0" "c.404C>T" "r.(?)" "p.(Pro135Leu)" "" "0000476991" "00002850" "50" "353" "0" "353" "0" "c.353G>T" "r.(?)" "p.(Cys118Phe)" "" "0000476992" "00002850" "50" "308" "0" "308" "0" "c.308C>T" "r.(?)" "p.(Thr103Met)" "" "0000476993" "00002850" "50" "155" "0" "155" "0" "c.155A>C" "r.(?)" "p.(Asn52Thr)" "" "0000538980" "00002850" "30" "309" "0" "309" "0" "c.309G>A" "r.(?)" "p.(Thr103=)" "" "0000538981" "00002850" "50" "166" "0" "166" "0" "c.166G>A" "r.(?)" "p.(Val56Ile)" "" "0000538982" "00002850" "10" "114" "0" "114" "0" "c.114A>G" "r.(?)" "p.(Ala38=)" "" "0000646891" "00002850" "90" "269" "0" "269" "0" "c.269A>G" "r.(?)" "p.(Tyr90Cys)" "" "0000646892" "00002850" "90" "269" "0" "269" "0" "c.269A>G" "r.(?)" "p.(Tyr90Cys)" "" "0000646893" "00002850" "90" "269" "0" "269" "0" "c.269A>G" "r.(?)" "p.(Tyr90Cys)" "" "0000712143" "00002850" "90" "91" "0" "91" "0" "c.91A>G" "r.(?)" "p.(Thr31Ala)" "2" "0000712144" "00002850" "90" "353" "0" "353" "0" "c.353G>T" "r.(?)" "p.(Cys118Phe)" "5" "0000788612" "00002850" "70" "200" "0" "200" "0" "c.200A>T" "r.(?)" "p.(Asp67Val)" "3" "0000804276" "00002850" "30" "264" "8" "264" "8" "c.264+8C>T" "r.(=)" "p.(=)" "" "0000824364" "00002850" "90" "212" "0" "212" "0" "c.212A>C" "r.(?)" "p.(Gln71Pro)" "3" "0000841418" "00002850" "90" "269" "0" "269" "0" "c.269A>G" "r.(?)" "p.(Tyr90Cys)" "" "0000841419" "00002850" "90" "269" "0" "269" "0" "c.269A>G" "r.(?)" "p.(Tyr90Cys)" "" "0000841420" "00002850" "90" "200" "0" "200" "0" "c.200A>T" "r.(?)" "p.(Asp67Val)" "" "0000841428" "00002850" "90" "296" "0" "296" "0" "c.296G>T" "r.(?)" "p.(Arg99Ile)" "" "0000841429" "00002850" "90" "296" "0" "296" "0" "c.296G>T" "r.(?)" "p.(Arg99Ile)" "" "0000841430" "00002850" "90" "91" "0" "91" "0" "c.91A>G" "r.(?)" "p.(Thr31Ala)" "" "0000841431" "00002850" "90" "353" "0" "353" "0" "c.353G>T" "r.(?)" "p.(Cys118Phe)" "" "0000861809" "00002850" "70" "265" "-2" "265" "-2" "c.265-2A>G" "r.spl?" "p.?" "" "0000958874" "00002850" "50" "208" "0" "208" "0" "c.208G>A" "r.(?)" "p.(Gly70Arg)" "" "0000958889" "00002850" "50" "419" "0" "419" "0" "c.419C>T" "r.(?)" "p.(Ala140Val)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 24 "{{screeningid}}" "{{variantid}}" "0000180422" "0000403905" "0000180423" "0000403906" "0000180424" "0000403907" "0000180425" "0000403908" "0000234282" "0000476990" "0000234283" "0000476991" "0000234284" "0000476992" "0000234285" "0000476993" "0000290241" "0000646891" "0000290242" "0000646892" "0000290243" "0000646893" "0000328206" "0000712144" "0000328207" "0000712143" "0000376716" "0000788612" "0000393585" "0000824364" "0000405333" "0000841418" "0000405334" "0000841419" "0000405335" "0000841420" "0000405342" "0000841428" "0000405343" "0000841429" "0000405344" "0000841430" "0000405344" "0000841431" "0000449107" "0000958874" "0000449122" "0000958889"