### LOVD-version 3000-270 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = GJA8) # 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}}" "GJA8" "gap junction protein, alpha 8, 50kDa" "1" "q21.1" "unknown" "NG_016242.1" "UD_132118547277" "" "https://www.LOVD.nl/GJA8" "" "1" "4281" "2703" "600897" "1" "1" "1" "1" "This database is one of the \"Eye disease\" gene variant databases.\r\nEstablishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/GJA8_codingDNA.html" "1" "" "This database is one of the \"Eye disease\" gene variant databases." "-1" "" "-1" "00001" "2010-03-01 00:00:00" "00006" "2020-11-20 17:38:10" "03840" "2021-10-12 17:41:46" ## 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}}" "00008533" "GJA8" "gap junction protein, alpha 8, 50kDa" "001" "NM_005267.4" "" "NP_005258.2" "" "" "" "-53" "1314" "1302" "147374946" "147381396" "" "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}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2016-10-22 17:54:40" "00296" "CTRCT" "cataract (CTRCT)" "" "" "" "" "" "00006" "2014-01-16 08:42:13" "00006" "2015-03-07 14:30:33" "01235" "CTRCT1" "cataract, type 1 (CTRCT1)" "AD" "116200" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-11-20 17:38:33" "02344" "MCOPS-9" "microphthalmia syndromic, type 9 (MCOPS-9)" "" "601186" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2015-12-08 23:59:30" "04214" "retinal disease" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00006" "2020-08-25 10:54:40" "04267" "-" "glaucoma" "" "" "" "" "" "00006" "2015-05-14 15:50:28" "" "" "05165" "CCTRCT" "cataract, congenital (CCTRCT)" "" "" "" "" "" "00006" "2016-05-15 20:37:47" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "GJA8" "01235" ## Individuals ## Do not remove or alter this header ## ## Count = 27 "{{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}}" "00050448" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00050487" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00050570" "" "" "" "2" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, affected father/child" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00060062" "" "" "" "1" "" "00227" "" "1 familie, 3 patients" "M" "" "China" "" "0" "" "" "Han" "" "00060073" "" "" "" "1" "" "00006" "" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00060074" "" "" "" "1" "" "00006" "" "" "" "" "Pakistan" "" "0" "" "" "" "" "00060075" "" "" "" "1" "" "00006" "" "" "" "" "Russian Federation" "" "0" "" "" "" "" "00060076" "" "" "" "1" "" "00006" "" "" "" "" "Iran" "" "0" "" "" "" "" "00060077" "" "" "" "1" "" "00006" "" "" "" "" "India" "" "0" "" "" "" "" "00060078" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00060079" "" "" "" "1" "" "00006" "" "" "" "" "China" "" "0" "" "" "" "" "00060094" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00060205" "" "" "" "1" "" "00245" "" "" "" "" "Australia" "" "0" "" "" "" "" "00060210" "" "" "" "1" "" "00227" "" "" "M" "no" "China" "" "0" "" "" "" "" "00065032" "" "" "" "1" "" "00006" "{PMID:Gillespie 2014:25148791}, {DOI:Gillespie 2014:10.1016/j.ophtha.2014.06.006}" "no family history" "M" "yes" "" "" "0" "" "" "" "" "00065034" "" "" "" "3" "" "00006" "{PMID:Gillespie 2014:25148791}, {DOI:Gillespie 2014:10.1016/j.ophtha.2014.06.006}" "has affected mother and maternal grandfather" "F" "no" "" "" "0" "" "" "" "" "00102742" "" "" "" "1" "" "01954" "" "" "F" "no" "China" "" "0" "" "" "Chinese" "" "00102748" "" "" "" "1" "" "01954" "" "" "F" "no" "China" "" "0" "" "" "" "" "00363787" "" "" "" "1" "" "00000" "{PMID:Huang 2015:26310487}" "family" "M" "" "China" "" "0" "" "" "" "G462" "00380447" "" "" "" "1" "" "00000" "{PMID:Sun 2018:30076350}" "" "M" "" "China" "" "0" "" "" "" "WHP37" "00380457" "" "" "" "1" "" "00000" "{PMID:Sun 2018:30076350}" "" "M" "" "China" "" "0" "" "" "" "WHP52" "00380465" "" "" "" "1" "" "00000" "{PMID:Sun 2018:30076350}" "" "M" "" "China" "" "0" "" "" "" "WHP73" "00380475" "" "" "" "1" "" "00000" "{PMID:Sun 2018:30076350}" "" "F" "" "China" "" "0" "" "" "" "WHP89" "00382149" "" "" "" "1" "" "00000" "{PMID:Patel 2019:30653986}" "" "?" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "288" "00384435" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31106028}" "" "F" "" "China" "" "0" "" "" "" "14525" "00385452" "" "" "" "1" "" "00000" "{PMID:Lenassi 2020:31848469}" "retrospective analysis" "F" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "11012212" "00385477" "" "" "" "1" "" "00000" "{PMID:Lenassi 2020:31848469}" "retrospective analysis" "F" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "15018151" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 27 "{{individualid}}" "{{diseaseid}}" "00050448" "00198" "00050487" "00198" "00050570" "00198" "00060062" "00296" "00060073" "01235" "00060074" "01235" "00060075" "01235" "00060076" "00296" "00060077" "01235" "00060078" "01235" "00060079" "01235" "00060094" "00198" "00060205" "00296" "00060210" "00296" "00065032" "05165" "00065034" "05165" "00102742" "00296" "00102748" "00296" "00363787" "04267" "00380447" "00198" "00380457" "00198" "00380465" "00198" "00380475" "00198" "00382149" "02344" "00384435" "01235" "00385452" "04214" "00385477" "04214" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00296, 01235, 02344, 04214, 04267, 05165 ## Count = 27 "{{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}}" "0000037060" "00198" "00050448" "00006" "Isolated (sporadic)" "" "abnormality of the eye, bilateral microphthalmos, microphthalmos, bilateral microphthalmos, congenital cataract, anterior segment dysgenesis, hypoplasia of the iris, persistent pupillary membrane" "" "" "" "" "" "" "" "" "" "" "" "0000037099" "00198" "00050487" "00006" "Isolated (sporadic)" "" "global developmental delay, microcephaly, seizures" "" "" "" "" "" "" "" "" "" "" "" "0000037182" "00198" "00050570" "00006" "Unknown" "" "brachycephaly, gastroesophageal reflux, delayed speech and language development, global developmental delay" "" "" "" "" "" "" "" "" "" "" "" "0000046552" "00296" "00060062" "00227" "Unknown" "" "cataract, congenital" "" "" "" "" "" "" "" "" "" "" "" "0000046563" "01235" "00060073" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000046564" "01235" "00060074" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000046565" "01235" "00060075" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000046566" "00296" "00060076" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000046567" "01235" "00060077" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000046568" "01235" "00060078" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000046569" "01235" "00060079" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000046584" "00198" "00060094" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000046695" "00296" "00060205" "00245" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000046700" "00296" "00060210" "00227" "Familial, autosomal dominant" "" "cataract, congenital" "" "" "" "" "" "" "" "" "" "" "" "0000051169" "05165" "00065032" "00006" "Familial, autosomal recessive" "" "nuclear, lamellar cataract, posterior capsule opacity" "" "" "" "" "" "" "" "" "" "" "" "0000051171" "05165" "00065034" "00006" "Familial, autosomal dominant" "" "total cataract; amblyopia, convergent squint, all other measurements within normal range" "" "" "" "" "" "" "" "" "" "" "" "0000081598" "00296" "00102742" "01954" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000081599" "00296" "00102748" "01954" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000259134" "04267" "00363787" "00000" "Unknown" "29y" "see paper; ..." "" "" "" "" "" "" "" "" "" "primary open‐angle glaucoma" "" "0000274299" "00198" "00380447" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "Cataract 1" "" "" "0000274309" "00198" "00380457" "00000" "Familial, autosomal dominant" "29y" "" "" "" "" "" "" "" "" "" "Cataract 1" "" "" "0000274317" "00198" "00380465" "00000" "Familial, autosomal dominant" "26y" "" "" "" "" "" "" "" "" "" "Cataract 1" "" "" "0000274327" "00198" "00380475" "00000" "Familial, autosomal dominant" "48y" "" "" "" "" "" "" "" "" "" "Cataract 1" "" "" "0000275991" "02344" "00382149" "00000" "Familial, autosomal dominant" "" "congenital cataract; MIM, 600897" "" "" "" "" "" "" "" "" "" "MIM, 600897" "" "0000278220" "01235" "00384435" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Congenital cataract" "" "0000279247" "04214" "00385452" "00000" "Familial, autosomal dominant" "" "" "<1y" "" "" "" "" "" "" "" "bilateral paediatric cataract" "congenital cataract" "" "0000279272" "04214" "00385477" "00000" "Familial, autosomal dominant" "" "" "<1y" "" "" "" "" "" "" "" "bilateral paediatric cataract" "congenital cataracts" "" ## Screenings ## Do not remove or alter this header ## ## Count = 27 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000050393" "00050448" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000050432" "00050487" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000050515" "00050570" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000060049" "00060062" "1" "00227" "00227" "2011-11-16 03:07:25" "" "" "SEQ" "DNA" "" "" "0000060060" "00060073" "1" "00006" "00006" "2011-11-17 23:11:29" "" "" "SEQ" "DNA" "" "" "0000060061" "00060074" "1" "00006" "00006" "2011-11-17 23:11:29" "" "" "SEQ" "DNA" "" "" "0000060062" "00060075" "1" "00006" "00006" "2011-11-17 23:11:29" "" "" "SEQ" "DNA" "" "" "0000060063" "00060076" "1" "00006" "00006" "2011-11-17 23:11:29" "" "" "SEQ" "DNA" "" "" "0000060064" "00060077" "1" "00006" "00006" "2011-11-17 23:11:29" "" "" "SEQ" "DNA" "" "" "0000060065" "00060078" "1" "00006" "00006" "2011-11-17 23:11:29" "" "" "SEQ" "DNA" "" "" "0000060066" "00060079" "1" "00006" "00006" "2011-11-17 23:11:29" "" "" "SEQ" "DNA" "" "" "0000060081" "00060094" "1" "00006" "00006" "2011-11-17 23:11:29" "" "" "SEQ" "DNA" "" "" "0000060192" "00060205" "1" "00245" "00245" "2013-09-04 09:00:41" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000060197" "00060210" "1" "00227" "00227" "2015-01-14 02:22:30" "" "" "SEQ" "DNA" "" "" "0000065174" "00065032" "1" "00006" "00006" "2016-05-15 22:17:13" "00006" "2016-05-15 22:46:06" "SEQ;SEQ-NG" "DNA" "" "" "0000065176" "00065034" "1" "00006" "00006" "2016-05-15 22:17:13" "00006" "2016-05-15 22:48:41" "SEQ;SEQ-NG" "DNA" "" "" "0000103193" "00102742" "1" "01954" "01954" "2017-04-03 10:34:10" "" "" "SEQ" "DNA" "" "" "0000103583" "00102748" "1" "01954" "01954" "2017-04-05 00:52:28" "" "" "SEQ" "DNA" "" "" "0000365015" "00363787" "1" "00000" "00006" "2021-04-30 09:22:49" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000381660" "00380447" "1" "00000" "03840" "2021-08-18 14:23:07" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000381670" "00380457" "1" "00000" "03840" "2021-08-18 14:23:07" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000381678" "00380465" "1" "00000" "03840" "2021-08-18 14:23:07" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000381688" "00380475" "1" "00000" "03840" "2021-08-18 14:23:07" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000383365" "00382149" "1" "00000" "03840" "2021-09-07 10:12:12" "" "" "SEQ-NG" "DNA" "blood" "" "0000385660" "00384435" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes" "0000386681" "00385452" "1" "00000" "03840" "2021-10-12 17:40:23" "" "" "SEQ-NG" "DNA" "blood" "144 genes panel tested" "0000386706" "00385477" "1" "00000" "03840" "2021-10-12 17:40:23" "" "" "SEQ-NG" "DNA" "blood" "114 genes panel tested" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 26 "{{screeningid}}" "{{geneid}}" "0000050393" "GJA8" "0000050432" "CAMTA1" "0000060049" "GJA8" "0000060060" "GJA8" "0000060061" "GJA8" "0000060062" "GJA8" "0000060063" "GJA8" "0000060064" "GJA8" "0000060065" "GJA8" "0000060066" "GJA8" "0000060081" "GJA8" "0000060192" "GJA8" "0000060197" "GJA8" "0000065174" "GJA8" "0000065176" "GJA8" "0000103193" "GJA8" "0000103583" "GJA8" "0000365015" "GJA8" "0000381660" "GJA8" "0000381670" "GJA8" "0000381678" "GJA8" "0000381688" "GJA8" "0000383365" "GJA8" "0000385660" "GJA8" "0000386681" "GJA8" "0000386706" "GJA8" ## 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 = 52 "{{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}}" "0000079373" "0" "90" "1" "147380372" "147380372" "subst" "0" "00006" "GJA8_000026" "g.147380372T>G" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "De novo" "" "" "0" "" "" "g.147908245T>G" "" "pathogenic" "" "0000079495" "11" "90" "1" "145752381" "148936712" "del" "0" "00006" "ACP6_000003" "g.145752381_148936712del" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "decreased gene dosage" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000079664" "11" "90" "1" "145765433" "148250973" "dup" "0" "00006" "ACP6_000002" "g.145765433_148250973dup" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "increased gene dosage" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000090838" "11" "90" "1" "147380227" "147380227" "subst" "0" "00227" "GJA8_000001" "g.147380227C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.147908100C>G" "" "pathogenic" "" "0000090849" "1" "90" "1" "147380344" "147380344" "subst" "0" "00006" "GJA8_000019" "g.147380344C>T" "" "{PMID:Shiels 1998:09497259}, {OMIM600897:0001}" "" "" "LOVD2: GJ8_00002" "Germline" "" "" "0" "" "" "g.147908217C>T" "" "pathogenic" "" "0000090850" "1" "90" "1" "147380224" "147380224" "subst" "0" "00006" "GJA8_000020" "g.147380224G>A" "" "{PMID:Berry 1999:10480374}, {OMIM600897:0002}" "" "" "LOVD2: GJ8_00003" "Germline" "" "" "0" "" "" "g.147908097G>A" "" "pathogenic" "" "0000090851" "1" "90" "1" "147380823" "147380823" "subst" "0.0035618" "00006" "GJA8_000021" "g.147380823T>G" "" "{PMID:Polyakov 2001:11846744}, {OMIM600897:0003}" "" "" "LOVD2: GJ8_00004" "Germline" "" "" "0" "" "" "g.147908696T>G" "" "pathogenic" "" "0000090852" "1" "90" "1" "147380150" "147380150" "subst" "0" "00006" "GJA8_000022" "g.147380150G>C" "" "{PMID:Willoughby 2003:14627691}, {OMIM600897:0004}" "" "" "LOVD2: GJ8_00005" "Germline" "" "" "0" "" "" "g.147908023G>C" "" "pathogenic" "" "0000090853" "1" "90" "1" "147380213" "147380213" "subst" "0" "00006" "GJA8_000023" "g.147380213T>A" "" "{PMID:Devi 2006:16604058}, {OMIM600897:0005}" "" "" "LOVD2: GJ8_00006" "Germline" "" "" "0" "" "" "g.147908086T>A" "" "pathogenic" "" "0000090854" "1" "90" "1" "147380675" "147380675" "subst" "0" "00006" "GJA8_000024" "g.147380675G>A" "" "{PMID:Devi 2006:16604058}, {OMIM600897:0006}" "" "" "LOVD2: GJ8_00007" "Germline" "" "" "0" "" "" "g.147908548G>A" "" "pathogenic" "" "0000090855" "1" "90" "1" "147380221" "147380221" "subst" "0" "00006" "GJA8_000025" "g.147380221G>A" "" "{PMID:He 2011:21174522}, {OMIM600897:0007}" "" "" "LOVD2: GJ8_00008" "Germline" "" "" "0" "" "" "g.147908094G>A" "" "pathogenic" "" "0000090870" "1" "50" "1" "147380909" "147380909" "subst" "0" "00006" "GJA8_000015" "g.147380909C>T" "" "" "" "" "" "Germline" "" "rs45619342" "0" "" "" "g.147908782C>T" "" "VUS" "" "0000091164" "0" "90" "1" "147380675" "147380675" "subst" "0" "00245" "GJA8_000024" "g.147380675G>A" "" "" "" "" "LOVD2: GJ8_00007" "De novo" "" "" "0" "" "" "g.147908548G>A" "" "pathogenic" "" "0000091171" "1" "90" "1" "147380651" "147380651" "subst" "0" "00227" "GJA8_000018" "g.147380651A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.147908524A>G" "" "pathogenic" "" "0000096830" "3" "90" "1" "147381355" "147381355" "subst" "0.0000205738" "00006" "GJA8_000027" "g.147381355C>T" "" "{PMID:Gillespie 2014:25148791}, {DOI:Gillespie 2014:10.1016/j.ophtha.2014.06.006}" "" "" "" "Germline" "" "" "0" "" "" "g.147909228C>T" "" "pathogenic" "" "0000096832" "1" "70" "1" "147380375" "147380375" "subst" "0" "00006" "GJA8_000028" "g.147380375A>G" "" "{PMID:Gillespie 2014:25148791}, {DOI:Gillespie 2014:10.1016/j.ophtha.2014.06.006}" "" "" "" "Germline" "" "" "0" "" "" "g.147908248A>G" "" "likely pathogenic" "" "0000166308" "11" "70" "1" "147380996" "147380996" "subst" "0" "01954" "GJA8_000029" "g.147380996G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.147908869G>A" "" "likely pathogenic" "" "0000167016" "11" "70" "1" "147380091" "147380091" "subst" "0" "01954" "GJA8_000030" "g.147380091C>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.147907964C>G" "" "likely pathogenic" "" "0000254785" "0" "30" "1" "147380740" "147380740" "subst" "0.00228616" "01943" "GJA8_000032" "g.147380740A>G" "" "" "" "GJA8(NM_005267.4):c.658A>G (p.N220D, p.(Asn220Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.147908613A>G" "" "likely benign" "" "0000288346" "0" "30" "1" "147380467" "147380467" "subst" "0.00083265" "01943" "GJA8_000031" "g.147380467G>A" "" "" "" "GJA8(NM_005267.4):c.385G>A (p.V129I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.147908340G>A" "" "likely benign" "" "0000288347" "0" "30" "1" "147380823" "147380823" "subst" "0.0035618" "01943" "GJA8_000021" "g.147380823T>G" "" "" "" "GJA8(NM_005267.4):c.741T>G (p.I247M, p.(Ile247Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.147908696T>G" "" "likely benign" "" "0000348099" "0" "50" "1" "147380332" "147380332" "subst" "0.0000527897" "02327" "GJA8_000034" "g.147380332T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.147908205T>A" "" "VUS" "" "0000349568" "0" "50" "1" "147380249" "147380249" "subst" "0" "02327" "GJA8_000033" "g.147380249C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.147908122C>T" "" "VUS" "" "0000503037" "0" "30" "1" "147380199" "147380199" "subst" "0.000012182" "01943" "GJA8_000037" "g.147380199G>A" "" "" "" "GJA8(NM_005267.4):c.117G>A (p.T39=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.147908072G>A" "" "likely benign" "" "0000503038" "0" "70" "1" "147380222" "147380222" "subst" "0" "02327" "GJA8_000038" "g.147380222A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.147908095A>G" "" "likely pathogenic" "" "0000503039" "0" "30" "1" "147380415" "147380415" "subst" "0.0000446947" "01943" "GJA8_000039" "g.147380415G>A" "" "" "" "GJA8(NM_005267.4):c.333G>A (p.A111=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.147908288G>A" "" "likely benign" "" "0000503040" "0" "30" "1" "147380559" "147380559" "subst" "0.000048742" "01943" "GJA8_000040" "g.147380559C>T" "" "" "" "GJA8(NM_005267.4):c.477C>T (p.T159=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.147908432C>T" "" "likely benign" "" "0000503042" "0" "30" "1" "147380740" "147380740" "subst" "0.00228616" "01804" "GJA8_000032" "g.147380740A>G" "" "" "" "GJA8(NM_005267.4):c.658A>G (p.N220D, p.(Asn220Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.147908613A>G" "" "likely benign" "" "0000503043" "0" "30" "1" "147380823" "147380823" "subst" "0.0035618" "01804" "GJA8_000021" "g.147380823T>G" "" "" "" "GJA8(NM_005267.4):c.741T>G (p.I247M, p.(Ile247Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.147908696T>G" "" "likely benign" "" "0000503044" "0" "30" "1" "147381243" "147381243" "subst" "0.00010983" "01804" "GJA8_000042" "g.147381243G>T" "" "" "" "GJA8(NM_005267.4):c.1161G>T (p.(Gln387His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.147909116G>T" "" "likely benign" "" "0000503045" "0" "30" "1" "147381244" "147381244" "subst" "0.000109818" "01804" "GJA8_000043" "g.147381244T>G" "" "" "" "GJA8(NM_005267.4):c.1162T>G (p.(Ser388Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.147909117T>G" "" "likely benign" "" "0000653651" "0" "30" "1" "147380133" "147380133" "subst" "0.0000162443" "01943" "GJA8_000044" "g.147380133C>T" "" "" "" "GJA8(NM_005267.4):c.51C>T (p.H17=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.147908006C>T" "" "likely benign" "" "0000653652" "0" "50" "1" "147380635" "147380635" "subst" "0.0000162434" "01943" "GJA8_000041" "g.147380635C>T" "" "" "" "GJA8(NM_005267.4):c.553C>T (p.R185W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.147908508C>T" "" "VUS" "" "0000675459" "0" "50" "1" "147380227" "147380227" "subst" "0" "02327" "GJA8_000001" "g.147380227C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000675460" "0" "50" "1" "147380809" "147380809" "subst" "0" "02327" "GJA8_000045" "g.147380809C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000675461" "0" "50" "1" "147381187" "147381187" "subst" "0.0000132288" "01943" "GJA8_000046" "g.147381187G>T" "" "" "" "GJA8(NM_005267.4):c.1105G>T (p.G369W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000687860" "0" "30" "1" "147380184" "147380184" "subst" "0.0000162426" "01943" "GJA8_000047" "g.147380184C>T" "" "" "" "GJA8(NM_005267.4):c.102C>T (p.I34=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000687861" "0" "90" "1" "147380309" "147380309" "subst" "0" "02327" "GJA8_000048" "g.147380309G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000716777" "0" "50" "1" "147380101" "147380112" "del" "0" "02329" "GJA8_000035" "g.147380101_147380112del" "" "" "" "GJA8(NM_005267.4):c.19_30delCTGGGGAACATC (p.G8_L11del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000716778" "0" "50" "1" "147380104" "147380104" "subst" "0.0000243714" "02329" "GJA8_000036" "g.147380104G>A" "" "" "" "GJA8(NM_005267.4):c.22G>A (p.G8R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000716779" "0" "50" "1" "147380635" "147380635" "subst" "0.0000162434" "02329" "GJA8_000041" "g.147380635C>T" "" "" "" "GJA8(NM_005267.4):c.553C>T (p.R185W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000716780" "0" "30" "1" "147381177" "147381177" "subst" "0.0000226085" "01943" "GJA8_000049" "g.147381177C>T" "" "" "" "GJA8(NM_005267.4):c.1095C>T (p.A365=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000716781" "0" "30" "1" "147381211" "147381211" "subst" "0.0000125375" "01943" "GJA8_000050" "g.147381211G>A" "" "" "" "GJA8(NM_005267.4):c.1129G>A (p.V377M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000765965" "0" "70" "1" "147380651" "147380651" "subst" "0" "00000" "GJA8_000018" "g.147380651A>G" "" "{PMID:Huang 2015:26310487}" "" "" "" "Germline" "" "" "0" "" "" "g.147908524A>G" "" "likely pathogenic" "" "0000795155" "0" "70" "1" "147380236" "147380236" "subst" "0" "00000" "GJA8_000051" "g.147380236T>C" "137" "{PMID:Sun 2018:30076350}" "" "GJA8(NM_005267.4):c.154T>C(p.F52L)" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.147908109T>C" "" "likely pathogenic" "" "0000795165" "0" "70" "1" "147380216" "147380216" "subst" "0" "00000" "GJA8_000009" "g.147380216G>C" "152" "{PMID:Sun 2018:30076350}" "" "GJA8(NM_005267.4):c.134G>C(p.W45S)" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.147908089G>C" "" "likely pathogenic" "" "0000795173" "0" "70" "1" "147380245" "147380245" "subst" "0" "00000" "GJA8_000052" "g.147380245A>G" "173" "{PMID:Sun 2018:30076350}" "" "GJA8(NM_005267.4):c.163A>G(p.N55D)" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.147908118A>G" "" "likely pathogenic" "" "0000795183" "0" "70" "1" "147380855" "147380855" "subst" "0" "00000" "GJA8_000013" "g.147380855C>T" "189" "{PMID:Sun 2018:30076350}" "" "GJA8(NM_005267.4):c.773C>T(p.S258F)" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.147908728C>T" "" "likely pathogenic" "" "0000797426" "0" "70" "1" "147380159" "147380159" "subst" "0" "00000" "GJA8_000053" "g.147380159T>C" "" "{PMID:Patel 2019:30653986}" "" "c.77T-->C; p.Leu26Pro" "no Sanger sequencing; heterozygous" "Germline" "?" "" "0" "" "" "g.147908032T>C" "" "likely pathogenic" "" "0000812761" "0" "70" "1" "147380749" "147380749" "subst" "0" "00000" "GJA8_000054" "g.147380749G>A" "" "{PMID:Wang 2019:31106028}" "" "c.667G>A, p.(Glu223Lys)" "heterozygous" "Germline" "?" "" "0" "" "" "g.147908622G>A" "" "likely pathogenic" "" "0000814361" "0" "50" "1" "147380375" "147380375" "subst" "" "00000" "GJA8_000028" "g.147380375A>G" "" "{PMID:Lenassi 2020:31848469}" "" "GJA8 c.293A>G p.(His98Arg) het" "error in annotation, c.997C>T causes p.(Leu333Phe) and not p.(Leu333Trp) in all transcripts; heterozygous" "Germline" "?" "" "0" "" "" "g.147908248A>G" "" "VUS" "ACMG" "0000814386" "0" "50" "1" "147380345" "147380345" "subst" "" "00000" "chr1_014430" "g.147380345C>T" "" "{PMID:Lenassi 2020:31848469}" "" "GJA8 c.263C>T p.(Pro88Leu) het" "heterozygous" "Germline" "?" "" "0" "" "" "g.147908218C>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 GJA8 ## Count = 52 "{{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}}" "0000079373" "00008533" "00" "290" "0" "290" "0" "c.290T>G" "r.(?)" "p.(Val97Gly)" "" "0000079495" "00008533" "00" "-1622618" "0" "1556630" "0" "c.-1622618_*1555328del" "r.?" "p.?" "" "0000079664" "00008533" "00" "-1609566" "0" "870891" "0" "c.-1609566_*869589dup" "r.?" "p.?" "" "0000090838" "00008533" "90" "145" "0" "145" "0" "c.145C>G" "r.(?)" "p.(Gln49Glu)" "2" "0000090849" "00008533" "90" "262" "0" "262" "0" "c.262C>T" "r.(?)" "p.(Pro88Ser)" "2" "0000090850" "00008533" "90" "142" "0" "142" "0" "c.142G>A" "r.(?)" "p.(Glu48Lys)" "2" "0000090851" "00008533" "90" "741" "0" "741" "0" "c.741T>G" "r.(?)" "p.(Ile247Met)" "2" "0000090852" "00008533" "90" "68" "0" "68" "0" "c.68G>C" "r.(?)" "p.(Arg23Thr)" "2" "0000090853" "00008533" "90" "131" "0" "131" "0" "c.131T>A" "r.(?)" "p.(Val44Glu)" "2" "0000090854" "00008533" "90" "593" "0" "593" "0" "c.593G>A" "r.(?)" "p.(Arg198Gln)" "2" "0000090855" "00008533" "90" "139" "0" "139" "0" "c.139G>A" "r.(?)" "p.(Asp47Asn)" "2" "0000090870" "00008533" "50" "827" "0" "827" "0" "c.827C>T" "r.(?)" "p.(Ser276Phe)" "2" "0000091164" "00008533" "90" "593" "0" "593" "0" "c.593G>A" "r.(?)" "p.(Arg198Gln)" "2" "0000091171" "00008533" "90" "569" "0" "569" "0" "c.569A>G" "r.(?)" "p.(Asn190Ser)" "2" "0000096830" "00008533" "90" "1273" "0" "1273" "0" "c.1273C>T" "r.(?)" "p.(Arg425*)" "2" "0000096832" "00008533" "70" "293" "0" "293" "0" "c.293A>G" "r.(?)" "p.(His98Arg)" "2" "0000166308" "00008533" "70" "914" "0" "914" "0" "c.914G>A" "r.(?)" "p.(Ser305Asn)" "2" "0000167016" "00008533" "70" "9" "0" "9" "0" "c.9C>G" "r.(?)" "p.(Asp3Glu)" "2" "0000254785" "00008533" "30" "658" "0" "658" "0" "c.658A>G" "r.(?)" "p.(Asn220Asp)" "" "0000288346" "00008533" "30" "385" "0" "385" "0" "c.385G>A" "r.(?)" "p.(Val129Ile)" "" "0000288347" "00008533" "30" "741" "0" "741" "0" "c.741T>G" "r.(?)" "p.(Ile247Met)" "" "0000348099" "00008533" "50" "250" "0" "250" "0" "c.250T>A" "r.(?)" "p.(Phe84Ile)" "" "0000349568" "00008533" "50" "167" "0" "167" "0" "c.167C>T" "r.(?)" "p.(Thr56Ile)" "" "0000503037" "00008533" "30" "117" "0" "117" "0" "c.117G>A" "r.(?)" "p.(Thr39=)" "" "0000503038" "00008533" "70" "140" "0" "140" "0" "c.140A>G" "r.(?)" "p.(Asp47Gly)" "" "0000503039" "00008533" "30" "333" "0" "333" "0" "c.333G>A" "r.(?)" "p.(Ala111=)" "" "0000503040" "00008533" "30" "477" "0" "477" "0" "c.477C>T" "r.(?)" "p.(Thr159=)" "" "0000503042" "00008533" "30" "658" "0" "658" "0" "c.658A>G" "r.(?)" "p.(Asn220Asp)" "" "0000503043" "00008533" "30" "741" "0" "741" "0" "c.741T>G" "r.(?)" "p.(Ile247Met)" "" "0000503044" "00008533" "30" "1161" "0" "1161" "0" "c.1161G>T" "r.(?)" "p.(Gln387His)" "" "0000503045" "00008533" "30" "1162" "0" "1162" "0" "c.1162T>G" "r.(?)" "p.(Ser388Ala)" "" "0000653651" "00008533" "30" "51" "0" "51" "0" "c.51C>T" "r.(?)" "p.(His17=)" "" "0000653652" "00008533" "50" "553" "0" "553" "0" "c.553C>T" "r.(?)" "p.(Arg185Trp)" "" "0000675459" "00008533" "50" "145" "0" "145" "0" "c.145C>G" "r.(?)" "p.(Gln49Glu)" "" "0000675460" "00008533" "50" "727" "0" "727" "0" "c.727C>T" "r.(?)" "p.(Pro243Ser)" "" "0000675461" "00008533" "50" "1105" "0" "1105" "0" "c.1105G>T" "r.(?)" "p.(Gly369Trp)" "" "0000687860" "00008533" "30" "102" "0" "102" "0" "c.102C>T" "r.(?)" "p.(Ile34=)" "" "0000687861" "00008533" "90" "227" "0" "227" "0" "c.227G>A" "r.(?)" "p.(Arg76His)" "" "0000716777" "00008533" "50" "19" "0" "30" "0" "c.19_30del" "r.(?)" "p.(Gly8_Leu11del)" "" "0000716778" "00008533" "50" "22" "0" "22" "0" "c.22G>A" "r.(?)" "p.(Gly8Arg)" "" "0000716779" "00008533" "50" "553" "0" "553" "0" "c.553C>T" "r.(?)" "p.(Arg185Trp)" "" "0000716780" "00008533" "30" "1095" "0" "1095" "0" "c.1095C>T" "r.(?)" "p.(Ala365=)" "" "0000716781" "00008533" "30" "1129" "0" "1129" "0" "c.1129G>A" "r.(?)" "p.(Val377Met)" "" "0000765965" "00008533" "70" "569" "0" "569" "0" "c.569A>G" "r.(?)" "p.(Asn190Ser)" "" "0000795155" "00008533" "70" "154" "0" "154" "0" "c.154T>C" "r.(?)" "p.(Phe52Leu)" "" "0000795165" "00008533" "70" "134" "0" "134" "0" "c.134G>C" "r.(?)" "p.(Trp45Ser)" "" "0000795173" "00008533" "70" "163" "0" "163" "0" "c.163A>G" "r.(?)" "p.(Asn55Asp)" "" "0000795183" "00008533" "70" "773" "0" "773" "0" "c.773C>T" "r.(?)" "p.(Ser258Phe)" "" "0000797426" "00008533" "70" "77" "0" "77" "0" "c.77T>C" "r.(?)" "p.(Leu26Pro)" "" "0000812761" "00008533" "70" "667" "0" "667" "0" "c.667G>A" "r.(?)" "p.(Glu223Lys)" "" "0000814361" "00008533" "50" "293" "0" "293" "0" "c.293A>G" "r.(?)" "p.(His98Arg)" "" "0000814386" "00008533" "50" "263" "0" "263" "0" "c.263C>T" "r.(?)" "p.(Pro88Leu)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 27 "{{screeningid}}" "{{variantid}}" "0000050393" "0000079373" "0000050432" "0000079664" "0000050515" "0000079495" "0000060049" "0000090838" "0000060060" "0000090849" "0000060061" "0000090850" "0000060062" "0000090851" "0000060063" "0000090852" "0000060064" "0000090853" "0000060065" "0000090854" "0000060066" "0000090855" "0000060081" "0000090870" "0000060192" "0000091164" "0000060197" "0000091171" "0000065174" "0000096830" "0000065176" "0000096832" "0000103193" "0000166308" "0000103583" "0000167016" "0000365015" "0000765965" "0000381660" "0000795155" "0000381670" "0000795165" "0000381678" "0000795173" "0000381688" "0000795183" "0000383365" "0000797426" "0000385660" "0000812761" "0000386681" "0000814361" "0000386706" "0000814386"