### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = C8orf37) # 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}}" "C8orf37" "chromosome 8 open reading frame 37" "8" "q22.1" "unknown" "NG_032804.1" "UD_136085916103" "" "https://www.LOVD.nl/C8orf37" "" "1" "27232" "157657" "614477" "1" "1" "1" "1" "This database is one of the \"Eye disease\" gene variant databases.\r\nEstablishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "http://databases.lovd.nl/shared/refseq/C8orf37_NM_177965.3_codingDNA.html" "1" "" "This database is one of the \"Eye disease\" gene variant databases." "-1" "" "-1" "00001" "2012-06-08 00:00:00" "00006" "2020-08-30 11:06:07" "00006" "2025-04-07 13:47:05" ## 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}}" "00003847" "C8orf37" "chromosome 8 open reading frame 37" "001" "NM_177965.3" "" "NP_808880.1" "" "" "" "-45" "3328" "624" "96281462" "96257141" "" "0000-00-00 00:00:00" "" "" ## 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}}" "00058" "CORD" "dystrophy, cone-rod (CORD)" "" "" "" "" "" "00006" "2012-09-22 11:31:25" "00006" "2020-08-30 09:43:59" "00112" "RP" "retinitis pigmentosa (RP)" "" "268000" "" "" "" "00001" "2013-02-21 17:12:36" "00006" "2021-01-18 09:53:26" "03671" "CORD16;RP64" "dystrophy, cone-rod, type 16 (CORD16), retinitis pigmentosa, type 64 (RP64)" "AR" "614500" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-08-30 11:04:14" "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" "04249" "macular dystrophy" "dystrophy, macular" "" "" "" "" "" "00006" "2015-05-04 22:10:58" "00006" "2024-02-15 21:18:39" "05826" "BBS21" "Bardet-Biedl syndrome, type 21 (BBS21)" "AR" "617406" "" "" "" "00006" "2020-08-30 11:05:30" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{geneid}}" "{{diseaseid}}" "C8orf37" "03671" "C8orf37" "04212" "C8orf37" "04214" "C8orf37" "05826" ## Individuals ## Do not remove or alter this header ## ## Count = 49 "{{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}}" "00033610" "" "" "" "1" "" "00229" "{PMID:Estrada-Cuzcano A:22177090}" "" "M" "yes" "" "" "0" "" "" "" "" "00033611" "" "" "" "1" "" "00229" "" "" "-" "yes" "" "" "0" "" "" "" "" "00033612" "" "" "" "1" "" "00229" "" "" "-" "yes" "" "" "0" "" "" "" "" "00033613" "" "" "" "1" "" "00229" "" "" "F" "yes" "" "" "0" "" "" "" "" "00155399" "" "" "" "3" "" "01243" "{PMID:Sharon 2019:31456290}" "2/2420 IRD families" "F" "yes" "Israel" "" "0" "" "" "Druze" "" "00155400" "" "" "" "2" "" "01243" "{PMID:Sharon 2015:26261414}, {PMID:Sharon 2019:31456290}" "family" "M" "yes" "Israel" "" "0" "" "" "Arab-Muslim" "MOL0858" "00233112" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233113" "" "" "" "18" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233114" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233115" "" "" "" "8" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1203 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233116" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00308999" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" "" "00309628" "" "" "" "3" "" "00006" "{PMID:Chen 2018:29843741}" "6-generation family, affected father/daughter/son, unaffected heterozygous carrier parents" "F" "" "China" "" "0" "" "" "" "FamAPatVI2" "00309629" "" "" "00309628" "1" "" "00006" "{PMID:Chen 2018:29843741}" "son" "M" "yes" "China" "" "0" "" "" "" "FamAPatVI3" "00309632" "" "" "" "1" "" "00006" "{PMID:Khan 2016:26854863}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "Saudi Arabia" "" "0" "" "" "" "patient" "00309633" "" "" "" "3" "" "00006" "{PMID:Ravesh 2015:25802487}" "5-generation family, 3 affected brothers, unaffected heterozygous carrier parents/relatives" "M" "yes" "Pakistan" "" "0" "" "" "" "FamMA48" "00309634" "" "" "" "2" "" "00006" "{PMID:Ravesh 2015:25802487}" "5-generation family, affected sister/brother, unaffected heterozygous carrier parents/relatives" "F;M" "yes" "Pakistan" "" "0" "" "" "" "FamMA13" "00309635" "" "" "" "1" "" "00006" "{PMID:Heon 2016:27008867}" "" "F" "yes" "Canada" "" "0" "" "" "white" "patient" "00309636" "" "" "" "2" "" "00006" "{PMID:Rahner 2016:26865426}" "2-generation family, 2 affected sisters, unaffected heterozygous carrier parents/relatives" "F" "yes" "Morocco" "" "0" "" "" "" "patient" "00309637" "" "" "" "2" "" "00006" "{PMID:Katagiri 2016:25113443}" "2-generation family, affected sister/brother, unaffected heterozygous carrier parents" "F;M" "no" "Japan" "" "0" "" "" "" "family" "00309639" "" "" "" "8" "" "00006" "{PMID:Khan 2016:26854863}" "5-generation family, 8 affected (5F, 3M), unaffected heterozygous carrier parents/relatives" "F" "yes" "Pakistan" "" "0" "" "" "" "FamilyPat501" "00309640" "" "" "00309639" "1" "" "00006" "{PMID:Khan 2016:26854863}" "" "M" "yes" "Pakistan" "" "0" "" "" "" "FamilyPat502" "00309641" "" "" "00309639" "1" "" "00006" "{PMID:Khan 2016:26854863}" "" "M" "yes" "Pakistan" "" "0" "" "" "" "FamilyPat503" "00309643" "" "" "00309639" "1" "" "00006" "{PMID:Khan 2016:26854863}" "" "F" "yes" "Pakistan" "" "0" "" "" "" "FamilyPat507" "00309670" "" "" "" "1" "" "00006" "{PMID:Jinda 2014:24618324}" "" "M" "" "Thailand" "" "0" "" "" "" "RP038" "00309681" "" "" "" "2" "" "00004" "{PMID:Lazar 2015:25515582}" "2-generation family, 3 affected (F, M)" "F;M" "" "Israel" "" "0" "" "" "Arab Muslim" "MOL0858" "00334413" "" "" "" "1" "" "00000" "{PMID:Huang 2017:28512305}" "family" "" "" "China" "" "0" "" "" "" "RP-109" "00334564" "" "" "" "1" "" "00000" "{PMID:Jinda 2017:28453600}" "patient" "" "" "Thailand" "" "0" "" "" "" "RP038" "00363617" "" "" "" "1" "" "00000" "{PMID:Patel 2016:26355662}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "10DG0622" "00363659" "" "" "" "1" "" "00000" "{PMID:Patel 2016:26355662}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "11DG1769" "00363678" "" "" "" "1" "" "00000" "{PMID:Patel 2016:26355662}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "12DG0138" "00368957" "" "" "" "1" "" "01695" "{PMID:Wang 2014:25097241}" "" "F" "?" "United States" "" "0" "" "" "" "4" "00372674" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "family" "M" "" "China" "" "0" "" "" "" "RP101" "00372711" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "" "" "" "China" "" "0" "" "" "" "RP229" "00373927" "" "" "" "1" "" "00000" "{PMID:Consugar 2015:25412400}" "" "" "" "United States" "" "0" "" "" "" "OGI-098-246" "00375431" "" "" "" "1" "" "00000" "{PMID:Katagiri 2014:25268133}" "family" "" "" "Japan" "" "0" "" "" "" "RP#025" "00375432" "" "" "" "1" "" "00000" "{PMID:Katagiri 2014:25268133}" "family" "" "" "Japan" "" "0" "" "" "" "RP#027" "00379816" "" "" "" "1" "" "00000" "{PMID:Wang 2018:30029497}" "" "F" "?" "China" "" "0" "" "" "Han Chinese" "2016101725" "00386297" "" "" "" "1" "" "00000" "{PMID:Rodriguez-Munoz 2020:32036094}" "family fRPN-GG, proband" "F" "" "Spain" "" "0" "" "" "" "RP-506" "00390753" "" "" "" "1" "" "00000" "{PMID:Habibi 2020:32641690}" "Family F9, patient IV.4" "M" "" "Tunisia" "" "0" "" "" "" "F9_IV.4" "00390754" "" "" "" "1" "" "00000" "{PMID:Habibi 2020:32641690}" "Family F9, patient IV.6" "F" "" "Tunisia" "" "0" "" "" "" "F9_IV.6" "00390755" "" "" "" "1" "" "00000" "{PMID:Habibi 2020:32641690}" "Family F9, patient IV.2" "M" "" "Tunisia" "" "0" "" "" "" "F9_IV.2" "00393505" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "F" "" "" "" "0" "" "" "" "" "00395608" "" "" "" "1" "" "00000" "{PMID:Perea-Romero 2021:34448047}" "" "" "" "Spain" "" "0" "" "" "" "RP-2966" "00395609" "" "" "" "1" "" "00000" "{PMID:Perea-Romero 2021:34448047}" "" "" "" "Spain" "" "0" "" "" "" "RP-2995" "00419692" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2022:36259723}, {DOI:Hitti-Malin 2022:10.1002/humu.24489}" "" "F" "" "" "" "0" "" "" "" "070527" "00426922" "" "" "" "1" "" "00000" "{PMID:Zhu 2022:35456422}" "family 27, individual 31" "M" "" "" "" "0" "" "" "" "27_31" "00429983" "" "" "" "1" "" "04436" "{PMID:Panneman 2023:36819107}" "" "M" "" "" "" "0" "" "" "" "" "00450721" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "M" "" "" "" "0" "" "" "" "073388" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 49 "{{individualid}}" "{{diseaseid}}" "00033610" "04214" "00033611" "00058" "00033612" "00058" "00033613" "04214" "00155399" "04214" "00155400" "04214" "00233112" "04214" "00233113" "04214" "00233114" "04214" "00233115" "04214" "00233116" "04214" "00308999" "04214" "00309628" "04214" "00309629" "04214" "00309632" "04214" "00309633" "04214" "00309634" "04214" "00309635" "04214" "00309636" "04214" "00309637" "04214" "00309639" "04214" "00309640" "04214" "00309641" "04214" "00309643" "04214" "00309670" "04214" "00309681" "04214" "00334413" "04214" "00334564" "04214" "00363617" "04214" "00363659" "04214" "00363678" "04214" "00368957" "04214" "00372674" "04214" "00372711" "04214" "00373927" "04214" "00375431" "04214" "00375432" "04214" "00379816" "04214" "00386297" "04214" "00390753" "04214" "00390754" "04214" "00390755" "04214" "00393505" "04214" "00395608" "04214" "00395609" "04214" "00419692" "04214" "00426922" "04214" "00429983" "00112" "00450721" "04249" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00058, 00112, 03671, 04212, 04214, 04249, 05826 ## Count = 44 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000027039" "04214" "00033610" "00229" "Familial, autosomal recessive" "" "onset infancy; RP with early macular involvement" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "0000027040" "00058" "00033611" "00229" "Familial, autosomal recessive" "" "cone-rod dystrophy with polydactyly" "" "" "" "" "" "" "" "" "" "0000027041" "00058" "00033612" "00229" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "0000027042" "04214" "00033613" "00229" "Familial, autosomal recessive" "" "RP with macular involvement" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "0000127899" "04214" "00155399" "01243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "0000127900" "04214" "00155400" "01243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "0000234319" "04214" "00308999" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "cone–rod dystrophy" "0000234948" "04214" "00309628" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "0000234949" "04214" "00309629" "00006" "Familial, X-linked recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "retinal dystrophy" "0000234952" "04214" "00309632" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "BBS21" "Bardet-Biedl syndrome" "0000234953" "04214" "00309633" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "retinitis pigmentosa" "0000234954" "04214" "00309634" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "retinitis pigmentosa" "0000234955" "04214" "00309635" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "BBS21" "Bardet-Biedl syndrome" "0000234956" "04214" "00309636" "00006" "Familial, autosomal recessive" "" "see paper; ..., severe cone-rod dystrophy, cataract" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "0000234957" "04214" "00309637" "00006" "Familial, autosomal recessive" "" "see paper; ..., early-onset retinal dystrophy, macular atrophy, cataract, high myopia" "" "" "" "" "" "" "" "" "retinal disease" "0000234958" "04214" "00309639" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "BBS, variable" "0000234959" "04214" "00309640" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "BBS, variable" "0000234960" "04214" "00309641" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "BBS, variable" "0000234962" "04214" "00309643" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "BBS, variable" "0000234989" "04214" "00309670" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "retinitis pigmentosa" "0000235000" "04214" "00309681" "00004" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "cone-rod dystrophy" "0000252502" "04214" "00334413" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "retinitis pigmentosa" "0000252604" "04214" "00334564" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "retinitis pigmentosa" "0000258967" "04214" "00363617" "00000" "Familial" "" "non-syndromic" "" "" "" "" "" "" "" "" "macular dystrophy" "0000259009" "04214" "00363659" "00000" "Familial" "" "non-syndromic" "" "" "" "" "" "" "" "" "retinitis pigmentosa, cone-rod dystrophy" "0000259028" "04214" "00363678" "00000" "Isolated (sporadic)" "" "non-syndromic" "" "" "" "" "" "" "" "" "retinitis pigmentosa, cone-rod dystrophy" "0000264295" "04214" "00368957" "01695" "Unknown" "" "" "<14y" "" "unknown" "" "" "" "" "" "cone-rod dystrophy" "0000267953" "04214" "00372674" "00000" "Familial, autosomal recessive" "34y" "see paper; ..." "" "" "" "" "" "" "" "" "retinitis pigmentosa" "0000267990" "04214" "00372711" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "retinitis pigmentosa" "0000269136" "04214" "00373927" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "retinitis pigmentosa" "0000270645" "04214" "00375431" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "retinitis pigmentosa" "0000270646" "04214" "00375432" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "retinitis pigmentosa" "0000273670" "04214" "00379816" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "0000280100" "04214" "00386297" "00000" "Familial, autosomal recessive" "57y" "" "" "10y" "" "" "" "" "" "early onset retinitis pigmentosa" "" "0000284241" "04214" "00390753" "00000" "Familial, autosomal recessive" "30y" "Visual acuity right eye/left eye: 1/10_1/20, beaten-bronze aspect of the macula, peripheral RPE atrophy mild optic atrophy, narrowing of the vessels, macular atrophy, ERG: altered photopic and scotopic responses" "10y" "" "" "" "" "" "" "" "cone-rod dystrophy" "0000284242" "04214" "00390754" "00000" "Familial, autosomal recessive" "32y" "Visual acuity right eye/left eye: hand movement_hand movement, macular atrophy" "8y" "" "" "" "" "" "" "" "cone-rod dystrophy" "0000284243" "04214" "00390755" "00000" "Familial, autosomal recessive" "52y" "Visual acuity right eye/left eye: light perception_light perception, gliosis of the posterior pole, diffuse retinal atrophy, macular atrophy with parafoveolar gliosis" "<1y" "" "" "" "" "" "" "" "cone-rod dystrophy" "0000286711" "04214" "00393505" "00000" "Isolated (sporadic)" "31y" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa (RP)" "0000288806" "04214" "00395608" "00000" "Familial, autosomal recessive" "" "cone/cone-rod dystrophy, myopia, oligomenorrhea, global developmental delay, intellectual disability, polydactyly" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "Bardet-Biedl-like syndrome" "0000288807" "04214" "00395609" "00000" "Familial, autosomal recessive" "" "cataract, keratoconus, macular atrophy, rod-cone dystrophy, hearing impairment, obesity, abnormality of the endocrine system, diabetes mellitus" "" "" "" "" "" "" "" "Atypical Bardet-Biedl syndrome" "Alstrom-like syndrome" "0000310972" "04214" "00419692" "04405" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" "0000318060" "04214" "00426922" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "Leber congenital amaurosis" "0000320855" "00112" "00429983" "04436" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "0000339776" "04249" "00450721" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy (AR)" ## Screenings ## Do not remove or alter this header ## ## Count = 49 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000033678" "00033610" "1" "00229" "00229" "2014-01-17 11:48:55" "" "" "SEQ-NG-R" "DNA" "" "" "0000033679" "00033611" "1" "00229" "00229" "2014-01-17 12:54:55" "00229" "2014-01-17 13:14:01" "SEQ" "DNA" "" "" "0000033680" "00033612" "1" "00229" "00229" "2014-01-17 12:59:57" "" "" "SEQ" "DNA" "" "" "0000033681" "00033613" "1" "00229" "00229" "2014-01-17 13:06:27" "" "" "SEQ" "DNA" "" "" "0000156264" "00155399" "1" "01243" "01243" "2018-03-18 14:37:15" "" "" "SEQ" "DNA" "" "" "0000156265" "00155400" "1" "01243" "01243" "2018-03-18 14:37:15" "" "" "SEQ" "DNA" "" "" "0000234211" "00233112" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234212" "00233113" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234213" "00233114" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234214" "00233115" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234215" "00233116" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000310144" "00308999" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000310773" "00309628" "1" "00006" "00006" "2020-08-30 11:57:49" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000310774" "00309629" "1" "00006" "00006" "2020-08-30 12:00:40" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000310777" "00309632" "1" "00006" "00006" "2020-08-30 12:23:26" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000310778" "00309633" "1" "00006" "00006" "2020-08-30 12:23:26" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000310779" "00309634" "1" "00006" "00006" "2020-08-30 12:23:26" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000310780" "00309635" "1" "00006" "00006" "2020-08-30 12:23:26" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000310781" "00309636" "1" "00006" "00006" "2020-08-30 12:23:26" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000310782" "00309637" "1" "00006" "00006" "2020-08-30 12:23:26" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000310784" "00309639" "1" "00006" "00006" "2020-08-30 12:45:21" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000310785" "00309640" "1" "00006" "00006" "2020-08-30 12:48:12" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000310786" "00309641" "1" "00006" "00006" "2020-08-30 12:49:09" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000310788" "00309643" "1" "00006" "00006" "2020-08-30 12:50:48" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000310815" "00309670" "1" "00006" "00006" "2020-08-31 18:12:02" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000310826" "00309681" "1" "00004" "00006" "2020-08-31 19:33:35" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000335642" "00334413" "1" "00000" "00006" "2021-02-28 16:11:14" "" "" "SEQ-NG" "DNA" "" "WES" "0000335793" "00334564" "1" "00000" "00006" "2021-03-01 15:50:09" "" "" "SEQ-NG" "DNA" "" "WES" "0000364845" "00363617" "1" "00000" "00006" "2021-04-29 16:11:05" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000364887" "00363659" "1" "00000" "00006" "2021-04-29 16:11:05" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000364906" "00363678" "1" "00000" "00006" "2021-04-29 16:11:05" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000370185" "00368957" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000373906" "00372674" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000373943" "00372711" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000375159" "00373927" "1" "00000" "00006" "2021-05-21 15:01:30" "" "" "SEQ-NG" "DNA" "" "238-gene panel" "0000376628" "00375431" "1" "00000" "00006" "2021-06-04 09:36:04" "" "" "SEQ-NG" "DNA" "" "WES" "0000376629" "00375432" "1" "00000" "00006" "2021-06-04 09:36:04" "" "" "SEQ-NG" "DNA" "" "WES" "0000381018" "00379816" "1" "00000" "03840" "2021-08-10 08:08:19" "" "" "SEQ-NG" "DNA" "" "exome sequencing" "0000387526" "00386297" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000391994" "00390753" "1" "00000" "03840" "2021-11-11 19:27:39" "" "" "SEQ-NG-I" "DNA" "blood" "whole exome sequencing" "0000391995" "00390754" "1" "00000" "03840" "2021-11-11 19:27:39" "" "" "SEQ-NG-I" "DNA" "blood" "whole exome sequencing" "0000391996" "00390755" "1" "00000" "03840" "2021-11-11 19:27:39" "" "" "SEQ-NG-I" "DNA" "blood" "whole exome sequencing" "0000394753" "00393505" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG" "DNA" "" "WES" "0000396846" "00395608" "1" "00000" "03840" "2021-12-08 14:12:08" "" "" "?" "DNA" "" "clinical exome sequencing" "0000396847" "00395609" "1" "00000" "03840" "2021-12-08 14:12:08" "" "" "?" "DNA" "" "clinical exome sequencing" "0000420997" "00419692" "1" "04405" "00006" "2022-10-21 12:50:15" "" "" "MIPsm" "DNA" "" "smMIPs 105 iMD/AMD genes" "0000428242" "00426922" "1" "00000" "03840" "2022-12-03 18:53:15" "" "" "SEQ-NG;SEQ" "DNA" "saliva" "panel-based next generation sequencing" "0000431396" "00429983" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing" "0000452319" "00450721" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 63 "{{screeningid}}" "{{geneid}}" "0000033678" "C8orf37" "0000033679" "C8orf37" "0000033680" "C8orf37" "0000033681" "C8orf37" "0000156264" "C8orf37" "0000156265" "C8orf37" "0000234211" "C8orf37" "0000234212" "C8orf37" "0000234213" "C8orf37" "0000234214" "C8orf37" "0000234215" "C8orf37" "0000310144" "C8orf37" "0000310777" "C8orf37" "0000310778" "C8orf37" "0000310779" "C8orf37" "0000310780" "C8orf37" "0000310781" "C8orf37" "0000310782" "C8orf37" "0000310784" "C8orf37" "0000310784" "CCDC28B" "0000310784" "CEP19" "0000310784" "GLI1" "0000310784" "MKKS" "0000310784" "TMEM67" "0000310785" "C8orf37" "0000310785" "CCDC28B" "0000310785" "CEP19" "0000310785" "GLI1" "0000310785" "MKKS" "0000310785" "TMEM67" "0000310786" "C8orf37" "0000310786" "CCDC28B" "0000310786" "CEP19" "0000310786" "GLI1" "0000310786" "MKKS" "0000310786" "TMEM67" "0000310788" "C8orf37" "0000310788" "CCDC28B" "0000310788" "CEP19" "0000310788" "GLI1" "0000310788" "MKKS" "0000310788" "TMEM67" "0000310815" "ROM1" "0000310826" "C8orf37" "0000335642" "C8orf37" "0000335793" "C8orf37" "0000335793" "ROM1" "0000335793" "TULP1" "0000364845" "C8orf37" "0000364887" "C8orf37" "0000364906" "C8orf37" "0000370185" "ABCA4" "0000375159" "C8orf37" "0000381018" "C8orf37" "0000387526" "C8orf37" "0000391994" "C8orf37" "0000391995" "C8orf37" "0000391996" "C8orf37" "0000394753" "C8orf37" "0000396846" "C8orf37" "0000396847" "C8orf37" "0000428242" "AIPL1" "0000431396" "C8orf37" ## 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 = 77 "{{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}}" "0000059581" "10" "99" "8" "96259972" "96259972" "subst" "4.07874E-6" "00229" "C8orf37_000001" "g.96259972A>T" "" "{PMID:Estrada-Cuzcano 2012:22177090}" "" "" "predicted to be pathogenic" "Germline" "yes" "" "0" "" "" "g.95247744A>T" "" "pathogenic" "" "0000059582" "20" "99" "8" "96259972" "96259972" "subst" "4.07874E-6" "00229" "C8orf37_000001" "g.96259972A>T" "" "{PMID:Estrada-Cuzcano 2012:22177090}" "" "" "predicted to be pathogenic" "Germline" "yes" "" "0" "" "" "g.95247744A>T" "" "pathogenic" "" "0000059583" "10" "99" "8" "96276004" "96276004" "subst" "0" "00229" "C8orf37_000002" "g.96276004T>C" "" "{PMID:Estrada-Cuzcano 2012:22177090}" "" "" "predicted to be pathogenic" "Germline" "yes" "" "0" "" "" "g.95263776T>C" "" "pathogenic" "" "0000059584" "20" "99" "8" "96276004" "96276004" "subst" "0" "00229" "C8orf37_000002" "g.96276004T>C" "" "{PMID:Estrada-Cuzcano 2012:22177090}" "" "" "predicted to be pathogenic" "Germline" "yes" "" "0" "" "" "g.95263776T>C" "" "pathogenic" "" "0000059585" "10" "77" "8" "96259940" "96259940" "subst" "2.03371E-5" "00229" "C8orf37_000003" "g.96259940G>A" "" "{PMID:Estrada-Cuzcano 2012:22177090}" "" "" "probably pathogenic" "Germline" "yes" "" "0" "" "" "g.95247712G>A" "" "likely pathogenic" "" "0000059586" "20" "99" "8" "96259940" "96259940" "subst" "2.03371E-5" "00229" "C8orf37_000003" "g.96259940G>A" "" "{PMID:Estrada-Cuzcano 2012:22177090}" "" "" "probably pathogenic" "Germline" "yes" "" "0" "" "" "g.95247712G>A" "" "pathogenic" "" "0000059587" "10" "77" "8" "96259924" "96259924" "subst" "0" "00229" "C8orf37_000004" "g.96259924T>C" "" "{PMID:Estrada-Cuzcano 2012:22177090}" "" "" "probably pathogenic" "Germline" "yes" "" "0" "" "" "g.95247696T>C" "" "likely pathogenic" "" "0000059588" "20" "77" "8" "96259924" "96259924" "subst" "0" "00229" "C8orf37_000004" "g.96259924T>C" "" "{PMID:Estrada-Cuzcano 2012:22177090}" "" "" "probably pathogenic" "Germline" "yes" "" "0" "" "" "g.95247696T>C" "" "likely pathogenic" "" "0000246744" "0" "30" "8" "96281341" "96281341" "subst" "0" "02330" "C8orf37_000010" "g.96281341A>C" "" "" "" "CFAP418(NM_177965.4):c.77T>G (p.M26R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95269113A>C" "" "likely benign" "" "0000246760" "0" "90" "8" "96281261" "96281261" "subst" "0" "02330" "C8orf37_000008" "g.96281261A>G" "" "" "" "CFAP418(NM_177965.4):c.155+2T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95269033A>G" "" "pathogenic" "" "0000263897" "0" "10" "8" "96281292" "96281292" "subst" "0.000528631" "02330" "C8orf37_000009" "g.96281292C>G" "" "" "" "C8orf37(NM_177965.3):c.126G>C (p.R42=), CFAP418(NM_177965.4):c.126G>C (p.R42=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95269064C>G" "" "benign" "" "0000263898" "0" "50" "8" "96259948" "96259948" "subst" "0.000827578" "02330" "C8orf37_000006" "g.96259948T>C" "" "" "" "CFAP418(NM_177965.4):c.521A>G (p.K174R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95247720T>C" "" "VUS" "" "0000263899" "0" "10" "8" "96259941" "96259941" "subst" "0.00153737" "02330" "C8orf37_000005" "g.96259941T>C" "" "" "" "C8orf37(NM_177965.3):c.528A>G (p.T176=), C8orf37(NM_177965.4):c.528A>G (p.T176=), CFAP418(NM_177965.4):c.528A>G (p.T176=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95247713T>C" "" "benign" "" "0000272367" "0" "30" "8" "96281255" "96281255" "subst" "0.000208344" "01943" "C8orf37_000007" "g.96281255C>T" "" "" "" "C8orf37(NM_177965.3):c.155+8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95269027C>T" "" "likely benign" "" "0000272368" "0" "30" "8" "96259941" "96259941" "subst" "0.00153737" "01943" "C8orf37_000005" "g.96259941T>C" "" "" "" "C8orf37(NM_177965.3):c.528A>G (p.T176=), C8orf37(NM_177965.4):c.528A>G (p.T176=), CFAP418(NM_177965.4):c.528A>G (p.T176=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95247713T>C" "" "likely benign" "" "0000350780" "0" "90" "8" "96276004" "96276004" "subst" "0" "02327" "C8orf37_000002" "g.96276004T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95263776T>C" "" "pathogenic" "" "0000358186" "3" "70" "8" "96259924" "96259924" "subst" "0" "01243" "C8orf37_000004" "g.96259924T>C" "2/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "g.95247696T>C" "" "likely pathogenic" "" "0000358187" "3" "70" "8" "96259940" "96259940" "subst" "2.03371E-5" "01243" "C8orf37_000003" "g.96259940G>A" "1/2420 IRD families" "{PMID:Sharon 2015:26261414}, {PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "g.95247712G>A" "" "likely pathogenic (recessive)" "" "0000476919" "0" "50" "8" "96272714" "96272714" "subst" "0" "02591" "C8orf37_000011" "g.96272714A>G" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.95260486A>G" "" "VUS" "" "0000476920" "0" "50" "8" "96272735" "96272735" "subst" "0.000641272" "02591" "C8orf37_000012" "g.96272735T>C" "18/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs199731969" "0" "" "" "g.95260507T>C" "" "VUS" "" "0000476921" "0" "50" "8" "96281360" "96281360" "subst" "0" "02591" "C8orf37_000013" "g.96281360C>T" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.95269132C>T" "" "VUS" "" "0000476922" "0" "50" "8" "96281363" "96281363" "subst" "0.0223701" "02591" "C8orf37_000014" "g.96281363G>C" "8/1203 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs36096184" "0" "" "" "g.95269135G>C" "" "VUS" "" "0000476923" "0" "50" "8" "96281381" "96281381" "subst" "8.12255E-6" "02591" "C8orf37_000015" "g.96281381C>T" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs758143646" "0" "" "" "g.95269153C>T" "" "VUS" "" "0000535510" "0" "90" "8" "96259972" "96259972" "subst" "4.07874E-6" "02330" "C8orf37_000001" "g.96259972A>T" "" "" "" "CFAP418(NM_177965.4):c.497T>A (p.L166*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95247744A>T" "" "pathogenic" "" "0000535511" "0" "50" "8" "96272735" "96272735" "subst" "0.000641272" "02330" "C8orf37_000012" "g.96272735T>C" "" "" "" "C8orf37(NM_177965.3):c.269A>G (p.N90S), CFAP418(NM_177965.4):c.269A>G (p.N90S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95260507T>C" "" "VUS" "" "0000535512" "0" "50" "8" "96272735" "96272735" "subst" "0.000641272" "01943" "C8orf37_000012" "g.96272735T>C" "" "" "" "C8orf37(NM_177965.3):c.269A>G (p.N90S), CFAP418(NM_177965.4):c.269A>G (p.N90S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95260507T>C" "" "VUS" "" "0000535513" "0" "30" "8" "96281363" "96281363" "subst" "0.0223701" "01804" "C8orf37_000014" "g.96281363G>C" "" "" "" "C8orf37(NM_177965.3):c.55C>G (p.(Pro19Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95269135G>C" "" "likely benign" "" "0000535514" "0" "30" "8" "96281590" "96281590" "subst" "0" "01804" "C8orf37_000016" "g.96281590G>C" "" "" "" "C8orf37(XM_005250799.1):c.92C>G (p.(Ser31Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95269362G>C" "" "likely benign" "" "0000622098" "0" "30" "8" "96281292" "96281292" "subst" "0.000528631" "01943" "C8orf37_000009" "g.96281292C>G" "" "" "" "C8orf37(NM_177965.3):c.126G>C (p.R42=), CFAP418(NM_177965.4):c.126G>C (p.R42=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95269064C>G" "" "likely benign" "" "0000685055" "0" "90" "8" "96281262" "96281262" "subst" "0" "00004" "C8orf37_000023" "g.96281262T>C" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000685751" "3" "90" "8" "96259914" "96259914" "subst" "8.12519E-6" "00006" "C8orf37_000017" "g.96259914C>T" "" "{PMID:Chen 2018:29843741}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000685752" "10" "90" "8" "96259914" "96259914" "subst" "8.12519E-6" "00006" "C8orf37_000017" "g.96259914C>T" "" "{PMID:Chen 2018:29843741}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000685756" "3" "90" "8" "96259940" "96259940" "subst" "2.03371E-5" "00006" "C8orf37_000003" "g.96259940G>A" "" "{PMID:Khan 2016:26854863}" "" "" "" "Germline" "" "" "0" "" "" "g.95247712G>A" "" "pathogenic (recessive)" "" "0000685757" "3" "90" "8" "96272762" "96272762" "subst" "0" "00006" "C8orf37_000022" "g.96272762T>G" "" "{PMID:Ravesh 2015:25802487}" "" "" "effect on splicing predicted from expression cloning minigene construct" "Germline" "" "" "0" "" "" "g.95260534T>G" "" "pathogenic (recessive)" "" "0000685758" "3" "90" "8" "96259914" "96259914" "subst" "8.12519E-6" "00006" "C8orf37_000017" "g.96259914C>T" "" "{PMID:Ravesh 2015:25802487}" "" "" "" "Germline" "" "" "0" "" "" "g.95247686C>T" "" "pathogenic (recessive)" "" "0000685759" "3" "90" "8" "96272700" "96272700" "subst" "9.00422E-6" "00006" "C8orf37_000021" "g.96272700T>A" "" "{PMID:Heon 2016:27008867}" "" "" "" "Germline" "" "" "0" "" "" "g.95260472T>A" "" "pathogenic (recessive)" "" "0000685760" "3" "90" "8" "96281261" "96281261" "subst" "0" "00006" "C8orf37_000008" "g.96281261A>G" "" "{PMID:Rahner 2016:26865426}" "" "" "" "Germline" "" "" "0" "" "" "g.95269033A>G" "" "pathogenic (recessive)" "" "0000685761" "21" "90" "8" "96272066" "96272066" "subst" "0" "00006" "C8orf37_000020" "g.96272066A>G" "" "{PMID:Katagiri 2016:25113443}" "" "" "" "Germline" "" "" "0" "" "" "g.95259838A>G" "" "pathogenic (recessive)" "" "0000685762" "10" "90" "8" "96259894" "96259894" "del" "0" "00006" "C8orf37_000018" "g.96259894del" "" "{PMID:Katagiri 2016:25113443}" "" "575delC" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000685767" "1" "70" "8" "96259936" "96259936" "subst" "0.000130076" "00006" "C8orf37_000019" "g.96259936G>A" "" "{PMID:Khan 2016:26854863}" "" "" "" "Germline" "" "rs375314973" "0" "" "" "g.95247708G>A" "" "likely pathogenic" "" "0000685772" "1" "70" "8" "96259936" "96259936" "subst" "0.000130076" "00006" "C8orf37_000019" "g.96259936G>A" "" "{PMID:Khan 2016:26854863}" "" "" "" "Germline" "" "rs375314973" "0" "" "" "g.95247708G>A" "" "likely pathogenic" "" "0000685779" "1" "70" "8" "96259936" "96259936" "subst" "0.000130076" "00006" "C8orf37_000019" "g.96259936G>A" "" "{PMID:Khan 2016:26854863}" "" "" "" "Germline" "" "rs375314973" "0" "" "" "g.95247708G>A" "" "likely pathogenic" "" "0000685789" "1" "70" "8" "96259936" "96259936" "subst" "0.000130076" "00006" "C8orf37_000019" "g.96259936G>A" "" "{PMID:Khan 2016:26854863}" "" "" "" "Germline" "" "rs375314973" "0" "" "" "g.95247708G>A" "" "likely pathogenic" "" "0000685837" "3" "70" "8" "96275913" "96275913" "subst" "0" "00006" "C8orf37_000024" "g.96275913A>G" "" "{PMID:Jinda 2014:24618324}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000685850" "3" "90" "8" "96259940" "96259940" "subst" "2.03371E-5" "00004" "C8orf37_000003" "g.96259940G>A" "" "{PMID:Lazar 2015:25515582}" "" "" "" "Germline" "" "" "0" "" "" "g.95247712G>A" "" "pathogenic (recessive)" "" "0000722117" "0" "90" "8" "96281261" "96281261" "subst" "0" "02327" "C8orf37_000008" "g.96281261A>G" "" "" "" "CFAP418(NM_177965.4):c.155+2T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000734336" "3" "70" "8" "96259933" "96259933" "subst" "8.12645E-6" "00000" "C8orf37_000025" "g.96259933T>C" "" "{PMID:Huang 2017:28512305}" "" "" "" "Germline" "" "" "0" "" "" "g.95247705T>C" "" "likely pathogenic" "" "0000734692" "3" "70" "8" "96275913" "96275913" "subst" "0" "00000" "C8orf37_000024" "g.96275913A>G" "" "{PMID:Jinda 2017:28453600}" "" "" "" "Germline" "" "" "0" "" "" "g.95263685A>G" "" "likely pathogenic (recessive)" "" "0000765787" "0" "70" "8" "96259940" "96259940" "subst" "2.03371E-5" "00000" "C8orf37_000003" "g.96259940G>A" "" "{PMID:Patel 2016:26355662}" "" "" "" "Germline" "" "" "0" "" "" "g.95247712G>A" "" "likely pathogenic" "" "0000765829" "0" "70" "8" "96259940" "96259940" "subst" "2.03371E-5" "00000" "C8orf37_000003" "g.96259940G>A" "" "{PMID:Patel 2016:26355662}" "" "" "" "Germline" "" "" "0" "" "" "g.95247712G>A" "" "likely pathogenic" "" "0000765848" "0" "70" "8" "96259940" "96259940" "subst" "2.03371E-5" "00000" "C8orf37_000003" "g.96259940G>A" "" "{PMID:Patel 2016:26355662}" "" "" "" "Germline" "" "" "0" "" "" "g.95247712G>A" "" "likely pathogenic" "" "0000784354" "0" "70" "8" "96281408" "96281408" "subst" "4.0627E-6" "00000" "C8orf37_000026" "g.96281408C>T" "1/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "" "0" "" "" "g.95269180C>T" "" "likely pathogenic (recessive)" "" "0000784455" "0" "50" "8" "96272735" "96272735" "subst" "0.000641272" "00000" "C8orf37_000012" "g.96272735T>C" "1/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "rs199731969" "0" "" "" "g.95260507T>C" "" "VUS" "" "0000786454" "1" "90" "8" "96264450" "96264450" "subst" "0.000191121" "00000" "C8orf37_000027" "g.96264450T>G" "" "{PMID:Consugar 2015:25412400}" "" "" "" "Germline" "yes" "" "0" "" "" "g.95252222T>G" "" "pathogenic (recessive)" "" "0000786496" "2" "90" "8" "96264494" "96264494" "subst" "0.00019939" "00000" "C8orf37_000028" "g.96264494C>T" "" "{PMID:Consugar 2015:25412400}" "" "" "" "Germline" "yes" "" "0" "" "" "g.95252266C>T" "" "pathogenic (recessive)" "" "0000788492" "0" "50" "8" "96272735" "96272735" "subst" "0.000641272" "00000" "C8orf37_000012" "g.96272735T>C" "" "{PMID:Katagiri 2014:25268133}" "" "A269G" "" "Germline" "" "rs199731969" "0" "" "" "g.95260507T>C" "" "VUS" "" "0000788497" "0" "50" "8" "96272735" "96272735" "subst" "0.000641272" "00000" "C8orf37_000012" "g.96272735T>C" "" "{PMID:Katagiri 2014:25268133}" "" "A269G" "" "Germline" "" "rs199731969" "0" "" "" "g.95260507T>C" "" "VUS" "" "0000790395" "3" "50" "8" "96275912" "96275912" "subst" "8.15295E-6" "00000" "C8orf37_000029" "g.96275912T>G" "" "{PMID:Wang 2014:25097241}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000794292" "0" "90" "8" "96259940" "96259940" "subst" "2.03371E-5" "00000" "C8orf37_000003" "g.96259940G>A" "" "{PMID:Wang 2018:30029497}" "" "NM_177965.3:c.529C>T, NP_808880.1:p.(Arg177Trp), NC_000008.10:g.96259940G>A" "" "Germline" "?" "" "0" "" "" "g.95247712G>A" "" "pathogenic" "ACMG" "0000794293" "0" "90" "8" "96275986" "96275986" "subst" "4.08443E-6" "00000" "C8orf37_000030" "g.96275986T>A" "" "{PMID:Wang 2018:30029497}" "" "NM_177965.3:c.172A>T, NP_808880.1:p.(Lys58Ter), NC_000008.10:g.96275986T>A" "" "Germline" "?" "" "0" "" "" "g.95263758T>A" "" "pathogenic" "ACMG" "0000815410" "3" "90" "8" "96264415" "96264415" "subst" "0" "00000" "C8orf37_000031" "g.96264415C>T" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "C8orf37:NM_177965 c.470+1G>A, p.?" "homozygous, individual solved, variant causal" "Germline" "yes" "" "0" "" "" "g.95252187C>T" "" "pathogenic" "ACMG" "0000822067" "3" "70" "8" "96264415" "96264415" "subst" "0" "00000" "C8orf37_000032" "g.96264415C>A" "" "{PMID:Habibi 2020:32641690}" "" "C8ORF37 c.[470 + 1G > T];[470 + 1G > T], -" "homozygous" "Germline" "?" "" "0" "" "" "g.95252187C>A" "" "likely pathogenic" "" "0000822068" "3" "70" "8" "96264415" "96264415" "subst" "0" "00000" "C8orf37_000032" "g.96264415C>A" "" "{PMID:Habibi 2020:32641690}" "" "C8ORF37 c.[470 + 1G > T];[470 + 1G > T], -" "homozygous" "Germline" "?" "" "0" "" "" "g.95252187C>A" "" "likely pathogenic" "" "0000822069" "3" "70" "8" "96264415" "96264415" "subst" "0" "00000" "C8orf37_000032" "g.96264415C>A" "" "{PMID:Habibi 2020:32641690}" "" "C8ORF37 c.[470 + 1G > T];[470 + 1G > T], -" "homozygous" "Germline" "?" "" "0" "" "" "g.95252187C>A" "" "likely pathogenic" "" "0000825767" "0" "70" "8" "96259940" "96259940" "subst" "2.03371E-5" "00000" "C8orf37_000003" "g.96259940G>A" "" "{PMID:Liu-2020:33090715}" "" "c.529C>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000825768" "0" "70" "8" "96275986" "96275986" "subst" "4.08443E-6" "00000" "C8orf37_000030" "g.96275986T>A" "" "{PMID:Liu-2020:33090715}" "" "c.172A>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000828543" "3" "70" "8" "96276003" "96276003" "subst" "0" "00000" "C8orf37_000033" "g.96276003C>A" "" "{PMID:Perea-Romero 2021:34448047}" "" "C8orf37, c.156-1G>T, p.?, Triallelism" "" "Unknown" "?" "" "0" "" "" "g.95263775C>A" "" "likely pathogenic" "ACMG" "0000828545" "3" "70" "8" "96281389" "96281392" "del" "0" "00000" "C8orf37_000034" "g.96281389_96281392del" "" "{PMID:Perea-Romero 2021:34448047}" "" "C8orf37, c.28_31del, p.Asp10Lysfs*12, homozygous" "" "Unknown" "?" "" "0" "" "" "g.95269161_95269164del" "" "likely pathogenic" "ACMG" "0000852023" "0" "30" "8" "96259941" "96259941" "subst" "0.00153737" "02326" "C8orf37_000005" "g.96259941T>C" "" "" "" "C8orf37(NM_177965.3):c.528A>G (p.T176=), C8orf37(NM_177965.4):c.528A>G (p.T176=), CFAP418(NM_177965.4):c.528A>G (p.T176=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861305" "0" "30" "8" "96264527" "96264527" "subst" "1.69799E-5" "02326" "C8orf37_000035" "g.96264527A>T" "" "" "" "C8orf37(NM_177965.4):c.375-16T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000881415" "3" "70" "8" "96272067" "96272067" "subst" "4.19826E-6" "04405" "C8orf37_000036" "g.96272067C>G" "" "{PMID:Hitti-Malin 2022:36259723}, {DOI:Hitti-Malin 2022:10.1002/humu.24489}" "" "" "" "Germline" "" "" "0" "" "" "g.95259839C>G" "" "likely pathogenic" "ACMG" "0000888482" "0" "30" "8" "96281243" "96281243" "subst" "0.000266614" "02330" "C8orf37_000037" "g.96281243A>C" "" "" "" "CFAP418(NM_177965.4):c.155+20T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000905912" "0" "50" "8" "96281258" "96281258" "subst" "8.1592E-6" "00000" "C8orf37_000038" "g.96281258T>A" "" "{PMID:Zhu 2022:35456422}" "" "C8orf37 c.155+5A>T, p.?" "heterozygous, probably non-causal incidental finding" "Germline/De novo (untested)" "?" "" "0" "" "" "g.95269030T>A" "" "VUS" "ACMG" "0000916525" "3" "70" "8" "96259954" "96259954" "dup" "0" "04436" "C8orf37_000039" "g.96259954dup" "" "{PMID:Panneman 2023:36819107}" "" "c.515dup" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000929487" "0" "30" "8" "96275895" "96275895" "subst" "0.00157092" "02326" "C8orf37_000040" "g.96275895A>G" "" "" "" "C8orf37(NM_177965.4):c.243+20T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978301" "0" "50" "8" "96275980" "96275982" "del" "0" "01804" "C8orf37_000041" "g.96275980_96275982del" "" "" "" "C8orf37(NM_177965.4):c.180_182del (p.(Glu60del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000986302" "3" "50" "8" "96276005" "96276005" "subst" "0" "04405" "C8orf37_000042" "g.96276005G>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.95263777G>T" "" "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 C8orf37 ## Count = 77 "{{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}}" "0000059581" "00003847" "99" "497" "0" "497" "0" "c.497T>A" "r.(?)" "p.(Leu166*)" "6" "0000059582" "00003847" "99" "497" "0" "497" "0" "c.497T>A" "r.(?)" "p.(Leu166*)" "6" "0000059583" "00003847" "99" "156" "-2" "156" "-2" "c.156-2A>G" "r.spl" "p.?" "1i" "0000059584" "00003847" "99" "156" "-2" "156" "-2" "c.156-2A>G" "r.spl" "p.?" "1i" "0000059585" "00003847" "77" "529" "0" "529" "0" "c.529C>T" "r.(?)" "p.(Arg177Trp)" "6" "0000059586" "00003847" "99" "529" "0" "529" "0" "c.529C>T" "r.(?)" "p.(Arg177Trp)" "6" "0000059587" "00003847" "77" "545" "0" "545" "0" "c.545A>G" "r.(?)" "p.(Gln182Arg)" "6" "0000059588" "00003847" "77" "545" "0" "545" "0" "c.545A>G" "r.(?)" "p.(Gln182Arg)" "6" "0000246744" "00003847" "30" "77" "0" "77" "0" "c.77T>G" "r.(?)" "p.(Met26Arg)" "" "0000246760" "00003847" "90" "155" "2" "155" "2" "c.155+2T>C" "r.spl?" "p.?" "" "0000263897" "00003847" "10" "126" "0" "126" "0" "c.126G>C" "r.(?)" "p.(Arg42=)" "" "0000263898" "00003847" "50" "521" "0" "521" "0" "c.521A>G" "r.(?)" "p.(Lys174Arg)" "" "0000263899" "00003847" "10" "528" "0" "528" "0" "c.528A>G" "r.(?)" "p.(Thr176=)" "" "0000272367" "00003847" "30" "155" "8" "155" "8" "c.155+8G>A" "r.(=)" "p.(=)" "" "0000272368" "00003847" "30" "528" "0" "528" "0" "c.528A>G" "r.(?)" "p.(Thr176=)" "" "0000350780" "00003847" "90" "156" "-2" "156" "-2" "c.156-2A>G" "r.spl?" "p.?" "" "0000358186" "00003847" "70" "545" "0" "545" "0" "c.545A>G" "r.(?)" "p.(Gln182Arg)" "6" "0000358187" "00003847" "70" "529" "0" "529" "0" "c.529C>T" "r.(?)" "p.(Arg177Trp)" "6" "0000476919" "00003847" "50" "290" "0" "290" "0" "c.290T>C" "r.(?)" "p.(Ile97Thr)" "" "0000476920" "00003847" "50" "269" "0" "269" "0" "c.269A>G" "r.(?)" "p.(Asn90Ser)" "" "0000476921" "00003847" "50" "58" "0" "58" "0" "c.58G>A" "r.(?)" "p.(Asp20Asn)" "" "0000476922" "00003847" "50" "55" "0" "55" "0" "c.55C>G" "r.(?)" "p.(Pro19Ala)" "" "0000476923" "00003847" "50" "37" "0" "37" "0" "c.37G>A" "r.(?)" "p.(Glu13Lys)" "" "0000535510" "00003847" "90" "497" "0" "497" "0" "c.497T>A" "r.(?)" "p.(Leu166Ter)" "" "0000535511" "00003847" "50" "269" "0" "269" "0" "c.269A>G" "r.(?)" "p.(Asn90Ser)" "" "0000535512" "00003847" "50" "269" "0" "269" "0" "c.269A>G" "r.(?)" "p.(Asn90Ser)" "" "0000535513" "00003847" "30" "55" "0" "55" "0" "c.55C>G" "r.(?)" "p.(Pro19Ala)" "" "0000535514" "00003847" "30" "-173" "0" "-173" "0" "c.-173C>G" "r.(?)" "p.(=)" "" "0000622098" "00003847" "30" "126" "0" "126" "0" "c.126G>C" "r.(?)" "p.(Arg42=)" "" "0000685055" "00003847" "90" "155" "1" "155" "1" "c.155+1A>G" "r.spl" "p.?" "" "0000685751" "00003847" "90" "555" "0" "555" "0" "c.555G>A" "r.(?)" "p.(Trp185*)" "" "0000685752" "00003847" "90" "555" "0" "555" "0" "c.555G>A" "r.(?)" "p.(Trp185*)" "" "0000685756" "00003847" "90" "529" "0" "529" "0" "c.529C>T" "r.(?)" "p.(Arg177Trp)" "" "0000685757" "00003847" "90" "244" "-2" "244" "-2" "c.244-2A>C" "r.(244_265del)" "p.(Lys82Valfs*45)" "" "0000685758" "00003847" "90" "555" "0" "555" "0" "c.555G>A" "r.(?)" "P.(Trp185*)" "" "0000685759" "00003847" "90" "304" "0" "304" "0" "c.304A>T" "r.(?)" "p.(Lys102*)" "" "0000685760" "00003847" "90" "155" "2" "155" "2" "c.155+2T>C" "r.74_155del" "p.Gly25Aspfs*32)" "" "0000685761" "00003847" "90" "374" "2" "374" "2" "c.374+2T>C" "r.spl" "p.?" "" "0000685762" "00003847" "90" "575" "0" "575" "0" "c.575del" "r.(?)" "p.(Thr192Metfs*29)" "" "0000685767" "00003847" "70" "533" "0" "533" "0" "c.533C>T" "r.(?)" "p.(Ala178Val)" "" "0000685772" "00003847" "70" "533" "0" "533" "0" "c.533C>T" "r.(?)" "p.(Ala178Val)" "" "0000685779" "00003847" "70" "533" "0" "533" "0" "c.533C>T" "r.(?)" "p.(Ala178Val)" "" "0000685789" "00003847" "70" "533" "0" "533" "0" "c.533C>T" "r.(?)" "p.(Ala178Val)" "" "0000685837" "00003847" "70" "243" "2" "243" "2" "c.243+2T>C" "r.spl" "p.?" "" "0000685850" "00003847" "90" "529" "0" "529" "0" "c.529C>T" "r.(?)" "p.(Arg177Trp)" "" "0000722117" "00003847" "90" "155" "2" "155" "2" "c.155+2T>C" "r.spl?" "p.?" "" "0000734336" "00003847" "70" "536" "0" "536" "0" "c.536A>G" "r.(?)" "p.(Tyr179Cys)" "" "0000734692" "00003847" "70" "243" "2" "243" "2" "c.243+2T>C" "r.spl" "p.?" "" "0000765787" "00003847" "70" "529" "0" "529" "0" "c.529C>T" "r.(?)" "p.(Arg177Trp)" "" "0000765829" "00003847" "70" "529" "0" "529" "0" "c.529C>T" "r.(?)" "p.(Arg177Trp)" "" "0000765848" "00003847" "70" "529" "0" "529" "0" "c.529C>T" "r.(?)" "p.(Arg177Trp)" "" "0000784354" "00003847" "70" "10" "0" "10" "0" "c.10G>A" "r.(?)" "p.(Asp4Asn)" "" "0000784455" "00003847" "50" "269" "0" "269" "0" "c.269A>G" "r.(?)" "p.(Asn90Ser)" "" "0000786454" "00003847" "90" "436" "0" "436" "0" "c.436A>C" "r.(?)" "p.(Met146Leu)" "" "0000786496" "00003847" "90" "392" "0" "392" "0" "c.392G>A" "r.(?)" "p.(Arg131His)" "" "0000788492" "00003847" "50" "269" "0" "269" "0" "c.269A>G" "r.(?)" "p.(Asn90Ser)" "3" "0000788497" "00003847" "50" "269" "0" "269" "0" "c.269A>G" "r.(?)" "p.(Asn90Ser)" "3" "0000790395" "00003847" "50" "243" "3" "243" "3" "c.243+3A>C" "r.spl?" "p.?" "" "0000794292" "00003847" "90" "529" "0" "529" "0" "c.529C>T" "r.(?)" "p.(Arg177Trp)" "6" "0000794293" "00003847" "90" "172" "0" "172" "0" "c.172A>T" "r.(?)" "p.(Lys58*)" "2" "0000815410" "00003847" "90" "470" "1" "470" "1" "c.470+1G>A" "r.spl" "p.(?)" "" "0000822067" "00003847" "70" "470" "1" "470" "1" "c.470+1G>T" "r.(?)" "p.(?)" "" "0000822068" "00003847" "70" "470" "1" "470" "1" "c.470+1G>T" "r.(?)" "p.(?)" "" "0000822069" "00003847" "70" "470" "1" "470" "1" "c.470+1G>T" "r.(?)" "p.(?)" "" "0000825767" "00003847" "70" "529" "0" "529" "0" "c.529C>T" "r.(?)" "p.(Arg177Trp)" "6" "0000825768" "00003847" "70" "172" "0" "172" "0" "c.172A>T" "r.(?)" "p.(Lys58*)" "2" "0000828543" "00003847" "70" "156" "-1" "156" "-1" "c.156-1G>T" "r.spl" "p.(?)" "" "0000828545" "00003847" "70" "28" "0" "31" "0" "c.28_31del" "r.(?)" "p.(Asp10Lysfs*12)" "" "0000852023" "00003847" "30" "528" "0" "528" "0" "c.528A>G" "r.(?)" "p.(Thr176=)" "" "0000861305" "00003847" "30" "375" "-16" "375" "-16" "c.375-16T>A" "r.(=)" "p.(=)" "" "0000881415" "00003847" "70" "374" "1" "374" "1" "c.374+1G>C" "r.spl" "p.(?)" "" "0000888482" "00003847" "30" "155" "20" "155" "20" "c.155+20T>G" "r.(=)" "p.(=)" "" "0000905912" "00003847" "50" "155" "5" "155" "5" "c.155+5A>T" "r.spl" "p.?" "" "0000916525" "00003847" "70" "515" "0" "515" "0" "c.515dup" "r.(?)" "p.(Lys173Glufs*12)" "0" "0000929487" "00003847" "30" "243" "20" "243" "20" "c.243+20T>C" "r.(=)" "p.(=)" "" "0000978301" "00003847" "50" "180" "0" "182" "0" "c.180_182del" "r.(?)" "p.(Glu60del)" "" "0000986302" "00003847" "50" "156" "-3" "156" "-3" "c.156-3C>A" "r.spl" "p.?" "1i" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 57 "{{screeningid}}" "{{variantid}}" "0000033678" "0000059581" "0000033678" "0000059582" "0000033679" "0000059583" "0000033679" "0000059584" "0000033680" "0000059585" "0000033680" "0000059586" "0000033681" "0000059587" "0000033681" "0000059588" "0000156264" "0000358186" "0000156265" "0000358187" "0000234211" "0000476919" "0000234212" "0000476920" "0000234213" "0000476921" "0000234214" "0000476922" "0000234215" "0000476923" "0000310144" "0000685055" "0000310773" "0000685751" "0000310774" "0000685752" "0000310777" "0000685756" "0000310778" "0000685757" "0000310779" "0000685758" "0000310780" "0000685759" "0000310781" "0000685760" "0000310782" "0000685761" "0000310782" "0000685762" "0000310784" "0000685767" "0000310785" "0000685772" "0000310786" "0000685779" "0000310788" "0000685789" "0000310815" "0000685837" "0000310826" "0000685850" "0000335642" "0000734336" "0000335793" "0000734692" "0000364845" "0000765787" "0000364887" "0000765829" "0000364906" "0000765848" "0000370185" "0000790395" "0000373906" "0000784354" "0000373943" "0000784455" "0000375159" "0000786454" "0000375159" "0000786496" "0000376628" "0000788492" "0000376629" "0000788497" "0000381018" "0000794292" "0000381018" "0000794293" "0000387526" "0000815410" "0000391994" "0000822067" "0000391995" "0000822068" "0000391996" "0000822069" "0000394753" "0000825767" "0000394753" "0000825768" "0000396846" "0000828543" "0000396847" "0000828545" "0000420997" "0000881415" "0000428242" "0000905912" "0000431396" "0000916525" "0000452319" "0000986302"