### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ZNF408) # 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}}" "ZNF408" "zinc finger protein 408" "11" "p11.2" "unknown" "NG_052967.1" "UD_132464452760" "" "https://www.LOVD.nl/ZNF408" "" "1" "20041" "79797" "616454" "1" "1" "1" "1" "This database is one of the \"Eye disease\" gene variant databases.
Establishment of this gene variant database (LSDB) was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "g" "https://databases.lovd.nl/shared/refseq/ZNF408_codingDNA.html" "1" "" "This database is one of the \"Eye disease\" gene variant databases." "-1" "" "-1" "00001" "2013-02-11 00:00:00" "00006" "2019-09-13 12:37:04" "00000" "2025-07-08 13:22:38" ## 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}}" "00023423" "ZNF408" "transcript variant 1" "001" "NM_024741.2" "" "NP_079017.1" "" "" "" "-281" "2216" "2163" "46722317" "46727466" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "04240" "EVR;FEVR" "vitreoretinopathy, exudative (EVR; familial FVER))" "" "" "" "" "" "00006" "2015-04-10 12:38:11" "00006" "2019-07-31 13:55:30" "04250" "-" "retinal degeneration" "" "" "" "" "" "00006" "2015-05-04 22:12:01" "" "" "05075" "EVR6" "vitreoretinopathy, exudative, type 6 (EVR-6)" "AD" "616468" "" "" "" "00000" "2015-09-23 11:00:40" "00006" "2021-12-10 21:51:32" "05076" "RP72" "retinitis pigmentosa, type 72 (RP72)" "AR" "616469" "" "" "autosomal recessive" "00000" "2015-09-23 11:00:40" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{geneid}}" "{{diseaseid}}" "ZNF408" "04214" "ZNF408" "04240" "ZNF408" "05075" "ZNF408" "05076" ## Individuals ## Do not remove or alter this header ## ## Count = 52 "{{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}}" "00233187" "" "" "" "4" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233188" "" "" "" "565" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1203 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233189" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233190" "" "" "" "6" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233191" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233192" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233193" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233194" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233195" "" "" "" "3" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233196" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233197" "" "" "" "3" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233198" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233199" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233200" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233201" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233772" "" "" "" "467" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1203 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00263908" "" "" "" "2" "" "03383" "{PMID:Avila-Fernandez 2015:25882705}" "2-generation family, 2 affected (siblings)" "F" "?" "Spain" "" "0" "" "" "" "RP-0332 II:1" "00263960" "" "" "00263908" "1" "" "03383" "{PMID:Avila-Fernandez 2015:25882705}" "2 generation family, 2 affected (siblings)" "F" "?" "Spain" "" "0" "" "" "" "RP-0332 II:2" "00263961" "" "" "" "1" "" "03383" "{PMID:Avila-Fernandez 2015:25882705}" "3 generation family, 1 affected" "M" "yes" "Spain" "" "0" "" "" "" "RP-0976 II:2" "00263962" "" "" "" "1" "" "03383" "{PMID:Avila-Fernandez 2015:25882705}" "" "?" "?" "Spain" "" "0" "" "" "" "Individual 3" "00263963" "" "" "" "1" "" "03383" "{PMID:Avila-Fernandez 2015:25882705}" "" "?" "?" "Spain" "" "0" "" "" "" "Individual 4" "00263964" "" "" "" "3" "" "03383" "{PMID:Biswas 2018:29721947}" "3-generation family, 3 affected" "M" "yes" "Pakistan" "" "0" "" "" "" "PKRD320 III:4" "00263965" "" "" "00263964" "1" "" "03383" "{PMID:Biswas 2018:29721947}" "PatIII7" "F" "yes" "Pakistan" "" "0" "" "" "" "PKRD320 III:7" "00263971" "" "" "" "12" "" "03383" "{PMID:Collin 2013:23716654}" "5-generation family, 12 affected" "M" "no" "Netherlands" "" "0" "" "diathermy" "" "W05-215 III:5" "00263981" "" "" "00263971" "1" "" "03383" "{PMID:Collin 2013:23716654}" "PatV2" "F" "no" "Netherlands" "" "0" "" "" "" "W05-215 V:2" "00264047" "" "" "" "2" "" "03383" "{PMID:Collin 2013:23716654}" "5 generation family, 2 affected; related to family W05-215 of same study by common ancestor" "M" "no" "Netherlands" "" "0" "" "" "" "W05-220 IV:3" "00264048" "" "" "00264047" "1" "" "03383" "{PMID:Collin 2013:23716654}" "PatV2" "M" "no" "Netherlands" "" "0" "" "" "" "W05-220 V:2" "00264049" "" "" "" "2" "" "03383" "{PMID:Collin 2013:23716654}" "2 generation family, 2 affected" "M" "no" "Japan" "" "0" "" "laser photocoagulation" "" "F117 II:2" "00264050" "" "" "00264049" "1" "" "03383" "{PMID:Collin 2013:23716654}" "PatI1" "M" "no" "Japan" "" "0" "" "" "" "F117 I:1" "00264051" "" "" "" "3" "" "03383" "{PMID:Habibi 2017:28095122}" "4 generation family, 3 affected" "F" "yes" "Tunisia" "" "0" "" "" "" "Habibi 2017 Patient IV:1" "00264052" "" "" "00264051" "1" "" "03383" "{PMID:Habibi 2017:28095122}" "PatIV2" "F" "yes" "Tunisia" "" "0" "" "" "" "Habibi 2017 Patient IV:2" "00264053" "" "" "00264051" "1" "" "03383" "{PMID:Habibi 2017:28095122}" "PatIV4" "F" "yes" "Tunisia" "" "0" "" "" "" "Habibi 2017 Patient IV:4" "00274322" "" "" "" "1" "" "03383" "{PMID:Weiner 2019:30998249}" "Microcornea, Posterior Megalolenticonus, Persistent Fetal Vasculature, and Coloboma Syndrome (MPPC) ORPHA:231736" "F" "?" "United States" "" "0" "" "" "" "Patient 1" "00309514" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" "" "00309515" "" "" "" "2" "" "00004" "{PMID:Sharon 2019:31456290}" "2 IRD families" "" "" "Israel" "" "0" "" "" "" "" "00331311" "" "" "" "2" "" "00006" "{PMID:Su 2018:29652990}" "2-generation family, affected mother/child" "F" "" "China" "" "0" "" "" "" "Fam" "00333888" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "F" "" "(United States)" "" "0" "" "" "" "108" "00333889" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "F" "" "(United States)" "" "0" "" "" "" "109" "00335297" "" "" "" "1" "" "02485" "{PMID:Bravo-Gil 2017:28157192}" "patient" "" "" "Spain" "" "0" "" "" "" "Pat101" "00358963" "" "" "" "1" "" "00000" "{PMID:Tiwari 2016:27353947}" "see paper" "F" "" "Switzerland" "" "0" "" "" "" "Case71762" "00358988" "" "" "" "1" "" "00000" "{PMID:Musada 2016:27316669}" "see paper" "" "" "India" "" "0" "" "" "" "Fam6" "00358998" "" "" "" "1" "" "00000" "{PMID:Musada 2016:27316669}" "see paper" "" "" "India" "" "0" "" "" "" "Fam16" "00358999" "" "" "" "1" "" "00000" "{PMID:Musada 2016:27316669}" "see paper" "" "yes" "India" "" "0" "" "" "" "Fam17" "00373461" "" "" "" "1" "" "00000" "{PMID:Salvo 2015:25711638}" "family" "" "" "United States" "" "0" "" "" "" "14022004" "00380757" "" "" "" "1" "" "00000" "{PMID:Li 2018:30097784}" "" "M" "" "China" "" "0" "" "" "" "10" "00380758" "" "" "" "1" "" "00000" "{PMID:Li 2018:30097784}" "" "F" "" "China" "" "0" "" "" "" "11" "00380759" "" "" "" "1" "" "00000" "{PMID:Li 2018:30097784}" "" "M" "" "China" "" "0" "" "" "" "12" "00383726" "" "" "" "1" "" "00000" "{PMID:Tian 2019:31169861}" "" "?" "" "China" "" "0" "" "" "" "16" "00383727" "" "" "" "1" "" "00000" "{PMID:Tian 2019:31169861}" "" "?" "" "China" "" "0" "" "" "" "17" "00383954" "" "" "" "1" "" "00000" "{PMID:Martin Merida 2019:30902645}" "" "?" "" "Spain" "" "0" "" "" "" "RP-0976" "00396592" "" "" "" "1" "" "00000" "{PMID:Numa 2020:33247286}" "" "M" "" "Japan" "" "0" "" "" "Japanese" "" "00413038" "" "" "" "1" "" "00000" "{PMID:Tanenbaum 2020:32530348}" "" "M" "" "Dominican Republic" "" "0" "" "" "" "?" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 66 "{{individualid}}" "{{diseaseid}}" "00233187" "04214" "00233188" "04214" "00233189" "04214" "00233190" "04214" "00233191" "04214" "00233192" "04214" "00233193" "04214" "00233194" "04214" "00233195" "04214" "00233196" "04214" "00233197" "04214" "00233198" "04214" "00233199" "04214" "00233200" "04214" "00233201" "04214" "00233772" "04214" "00263908" "04214" "00263908" "05076" "00263960" "04214" "00263960" "05076" "00263961" "04214" "00263961" "05076" "00263962" "04214" "00263962" "05076" "00263963" "04214" "00263963" "05076" "00263964" "04214" "00263964" "04250" "00263965" "04250" "00263971" "04240" "00263971" "05075" "00263981" "04240" "00263981" "05075" "00264047" "04240" "00264047" "05075" "00264048" "04240" "00264048" "05075" "00264049" "04240" "00264049" "05075" "00264050" "04240" "00264050" "05075" "00264051" "04214" "00264051" "05076" "00264052" "04214" "00264052" "05076" "00264053" "04214" "00264053" "05076" "00309514" "04214" "00309515" "04214" "00331311" "04214" "00333888" "04214" "00333889" "04214" "00335297" "04214" "00358963" "04214" "00358988" "04214" "00358998" "04214" "00358999" "04214" "00373461" "04214" "00380757" "04214" "00380758" "04214" "00380759" "04214" "00383726" "04214" "00383727" "04214" "00383954" "04214" "00396592" "04214" "00413038" "04214" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 04214, 04240, 04250, 05075, 05076 ## Count = 35 "{{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}}" "0000201818" "04214" "00263908" "03383" "Familial, autosomal recessive" "69y" "retinitis pigmentosa (HP:0000510), night blindness (HP:0000662), retinal pigment epithelium atrophy (HP:0007791), photophobia (HP:0000613), visual field loss (HP:0007994), posterior subcapsular cataract (HP:0007787)" "30y" "52y" "night blindness (HP:0000662)" "" "" "" "" "RP-72" "retinitis pigmentosa" "0000201819" "04214" "00263960" "03383" "Familial, autosomal recessive" "67y" "retinitis pigmentosa (HP:0000510), night blindness (HP:0000662), progressive loss of visual acuity (HP:0000529), photophobia (HP:0000613), visual field loss (HP:0007994), posterior subcapsular cataract (HP:0007787)" "40y" "50y" "night blindness (HP:0000662)" "" "" "" "" "retinitis pigmentosa type 72 (RP-72)" "retinitis pigmentosa (RP)" "0000201820" "04214" "00263961" "03383" "Familial, autosomal recessive" "50y" "retinitis pigmentosa (HP:0000510), field constriction (HP: 0007994), atrophy of retinal pigment epithelium (HP:0007722), high myopia (HP:0011003)" "17y" "20y" "night blindness (HP:0000662), field constriction (HP:0007994)" "" "" "" "" "retinitis pigmentosa type 72 (RP-72)" "retinitis pigmentosa (RP)" "0000201821" "04214" "00263962" "03383" "Familial, autosomal recessive" "" "retinitis pigmentosa (HP:0000510)" "" "" "" "" "" "" "" "retinitis pigmentosa type 72 (RP-72)" "retinitis pigmentosa (RP)" "0000201822" "04214" "00263963" "03383" "Familial, autosomal recessive" "" "retinitis pigmentosa (HP: 0000510)" "" "" "" "" "" "" "" "retinitis pigmentosa type 72 (RP-72)" "retinitis pigmentosa (RP)" "0000201823" "04250" "00263964" "03383" "Familial, autosomal recessive" "" "inherited retinal degeneration (HP:0000546), retinal dystrophy (HP:0000556)" "" "" "" "" "" "" "" "" "" "0000201824" "04250" "00263965" "03383" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "0000201838" "04240" "00263971" "03383" "Familial, autosomal dominant" "47y" "familial exudative vitreoretinopathy (HP:0030490), left eye retinal detachment (HP:0000541)," "20y" "" "retinal detachment (HP:0000541)" "" "" "" "" "exudative vitreoretinopathy type 6 (EVR-6; familial)" "familial exudative vitreoretinopathy" "0000201839" "04240" "00263981" "03383" "Familial, autosomal dominant" "15y" "familial exudative vitreoretinopathy (HP:0030490), left eye falciform retinal fold (HP:0001493)" "" "03y" "" "" "" "" "" "exudative vitreoretinopathy type 6 (EVR-6; familial)" "familial exudative vitreoretinopathy" "0000201900" "04240" "00264047" "03383" "Familial, autosomal dominant" "44y" "familial exudative vitreoretinopathy (HP:0030490)" "00y" "" "" "" "" "" "" "exudative vitreoretinopathy type 6 (EVR-6; familial)" "familial exudative vitreoretinopathy" "0000201901" "04240" "00264048" "03383" "Familial, autosomal dominant" "08y" "familial exudative vitreoretinopathy (HP:0030490), horizontal nystagmus (HP:0000666)" "00y" "" "visual impairment" "" "" "" "" "exudative vitreoretinopathy type 6 (EVR-6; familial)" "familial exudative vitreoretinopathy" "0000201902" "04240" "00264049" "03383" "Familial, autosomal dominant" "34y" "familial exudative vitreoretinopathy (HP:0030490), retinal hole (HP:0011530)" "" "" "" "" "" "" "" "exudative vitreoretinopathy type 6 (EVR-6; familial)" "familial exudative vitreoretinopathy" "0000201903" "04240" "00264050" "03383" "Familial, autosomal dominant" "72y" "familial exudative vitreoretinopathy (HP:0030490), exudative retinal detachment (HP:0012231)," "40y" "" "" "" "" "" "" "exudative vitreoretinopathy type 6 (EVR-6; familial)" "familial exudative vitreoretinopathy" "0000201904" "04214" "00264051" "03383" "Familial, autosomal recessive" "48y" "retinitis pigmentosa (HP: 0000510), macular oedema (HP:0040049), cataract (HP:0000518), high myopia (HP:0011003)" "30y" "" "" "" "" "" "" "retinitis pigmentosa type 72 (RP-72)" "retinitis pigmentosa (RP)" "0000201905" "04214" "00264052" "03383" "Familial, autosomal recessive" "36y" "retinitis pigmentosa (HP:0000510), cataract (HP:0000518), high myopia (HP:0011003)" "20y" "" "nyctalpia (HP:0000662)" "" "" "" "" "retinitis pigmentosa type 72 (RP-72)" "retinitis pigmentosa (RP)" "0000201906" "04214" "00264053" "03383" "Familial, autosomal recessive" "40y" "retinitis pigmentosa (HP:0000510), high myopia (HP:0011003), cataract (HP:0000518)" "30y" "" "nyctalopia (HP:0000662)" "" "" "" "" "retinitis pigmentosa type 72 (RP-72)" "retinitis pigmentosa (RP)" "0000234834" "04214" "00309514" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "FEVR" "0000234835" "04214" "00309515" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "FEVR" "0000249505" "04214" "00331311" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" "0000252073" "04214" "00333888" "00000" "Familial, autosomal recessive" "29y" "clinical category IA1a" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "0000252074" "04214" "00333889" "00000" "Familial, autosomal recessive" "67y" "clinical category IA1a" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "0000253012" "04214" "00335297" "02485" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "retinitis pigmentosa" "0000254261" "04214" "00358963" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "retinitis pigmentosa" "0000254286" "04214" "00358988" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" "0000254296" "04214" "00358998" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" "0000254297" "04214" "00358999" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" "0000268737" "04214" "00373461" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" "0000274610" "04214" "00380757" "00000" "Familial, autosomal dominant" "9m" "" "" "" "" "" "" "" "" "" "Familial exudative vitreoretinopathy (FEVR)" "0000274611" "04214" "00380758" "00000" "Familial, autosomal dominant" "2y7m" "" "" "" "" "" "" "" "" "" "Familial exudative vitreoretinopathy (FEVR)" "0000274612" "04214" "00380759" "00000" "Familial, autosomal dominant" "4m" "" "" "" "" "" "" "" "" "" "Familial exudative vitreoretinopathy (FEVR)" "0000277511" "04214" "00383726" "00000" "Familial, autosomal dominant" "" "Total RD, unilateral, OS" "4y" "" "" "" "" "" "" "Familial exudative vitreoretinopathy" "persistent fetal vasculature syndrome" "0000277512" "04214" "00383727" "00000" "Familial, autosomal dominant" "" "Temporal, unilateral, OS" "2y" "" "" "" "" "" "" "Familial exudative vitreoretinopathy" "persistent fetal vasculature syndrome" "0000277739" "04214" "00383954" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "0000289753" "04214" "00396592" "00000" "Isolated (sporadic)" "5y" "night blindness" "4y" "" "" "" "" "" "" "" "retinitis pigmentosa (RP)" "0000305019" "04214" "00413038" "00000" "Familial, autosomal recessive" "1y1m" "born at 34 weeks’ gestation after an uncomplicated pregnancy, 10-day NICU stay due to respiratory distress that required intubation on the first day of life and 6 days of oxygen support; 25d: evaluated by a retina specialist and diagnosed with retinopathy of prematurity, in the presence of plus disease; bilateral intravitreal ranibizumab injections at a corrected gestational age of 38 weeks; 10m: both eyes: intraocular pressure was normal and the anterior segment was unremarkable; indirect ophthalmoscopy viewing in 360° with scleral depression: notable for incomplete vascularization without vascular tortuosity bilaterally; fluorescein angiography: peripheral avascularity, irregular sprouts of vascularization, and pruning of vessels without any area of leakage; optical coherence tomography and optical coherence tomography-angiography of the macula: normal findings in both eyes; A and B-scan of both eyes: no abnormality; treated with diode laser in the avascular zone of both eyes as well as intravitreal injions of bevacizumab bilaterally; last follow-up 3 months after examination and treatment, the patient remained stable" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" "retinopathy of prematurity" ## Screenings ## Do not remove or alter this header ## ## Count = 54 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000234286" "00233187" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234287" "00233188" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234288" "00233189" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234289" "00233190" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234290" "00233191" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234291" "00233192" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234292" "00233193" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234293" "00233194" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234294" "00233195" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234295" "00233196" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234296" "00233197" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234297" "00233198" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234298" "00233199" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234299" "00233200" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234300" "00233201" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234871" "00233772" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000265070" "00263908" "1" "03383" "03383" "2019-09-01 16:22:36" "" "" "SEQ-NG-I" "DNA" "" "WES" "0000265071" "00263960" "1" "03383" "03383" "2019-09-01 17:31:56" "" "" "SEQ-NG-I" "DNA" "" "WES" "0000265072" "00263961" "1" "03383" "03383" "2019-09-01 18:08:07" "" "" "SEQ" "DNA" "" "" "0000265073" "00263908" "1" "03383" "03383" "2019-09-01 19:20:02" "" "" "SEQ" "DNA" "" "" "0000265074" "00263962" "1" "03383" "03383" "2019-09-01 19:20:34" "" "" "SEQ" "DNA" "" "" "0000265075" "00263963" "1" "03383" "03383" "2019-09-01 19:33:28" "" "" "SEQ" "DNA" "" "" "0000265076" "00263960" "1" "03383" "03383" "2019-09-01 19:58:12" "" "" "SEQ" "DNA" "" "" "0000265077" "00263964" "1" "03383" "03383" "2019-09-01 21:40:43" "" "" "SEQ-NG-I" "DNA" "" "WES" "0000265078" "00263965" "1" "03383" "03383" "2019-09-01 22:12:15" "" "" "SEQ-NG-I" "DNA" "white blood cells" "WES" "0000265093" "00263971" "1" "03383" "03383" "2019-09-04 11:19:30" "" "" "SEQ-NG-S" "DNA" "peripheral blood lymphocytes" "1.22% of human genome (exome sequencing using SureSelect Human Exome Enrichment Kit V1)" "0000265095" "00263981" "1" "03383" "03383" "2019-09-04 14:30:33" "" "" "SEQ-NG-S" "DNA" "peripheral blood lymphocytes" "exome sequencing" "0000265169" "00264047" "1" "03383" "03383" "2019-09-07 20:00:04" "" "" "SEQ-NG-S" "DNA" "" "" "0000265170" "00264048" "1" "03383" "03383" "2019-09-07 20:31:07" "" "" "SEQ-NG-S" "DNA" "" "exome sequencing" "0000265171" "00264049" "1" "03383" "03383" "2019-09-07 20:57:26" "" "" "SEQ-NG-S" "DNA" "" "" "0000265172" "00264050" "1" "03383" "03383" "2019-09-07 21:10:43" "" "" "SEQ-NG-S" "DNA" "" "" "0000265173" "00264051" "1" "03383" "03383" "2019-09-08 20:44:49" "" "" "SEQ-NG-I" "DNA" "" "WES" "0000265174" "00264052" "1" "03383" "03383" "2019-09-08 21:02:07" "" "" "SEQ-NG-I" "DNA" "" "WES" "0000265175" "00264053" "1" "03383" "03383" "2019-09-08 21:09:17" "" "" "SEQ-NG-I" "DNA" "" "WES" "0000275480" "00274322" "1" "03383" "03383" "2019-12-29 00:05:35" "" "" "?" "DNA" "" "WES" "0000310659" "00309514" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000310660" "00309515" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000332531" "00331311" "1" "00006" "00006" "2021-02-11 12:05:31" "" "" "SEQ-NG" "DNA" "" "" "0000335114" "00333888" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" "" "0000335115" "00333889" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" "" "0000336526" "00335297" "1" "02485" "00006" "2021-03-04 16:18:39" "" "" "SEQ-NG" "DNA" "" "68-gene panel" "0000360200" "00358963" "1" "00000" "00006" "2021-03-18 12:15:00" "" "" "SEQ-NG" "DNA" "" "WES" "0000360225" "00358988" "1" "00000" "00006" "2021-03-18 13:20:30" "" "" "SEQ" "DNA" "" "FZD4, LRP5, TSPAN12" "0000360235" "00358998" "1" "00000" "00006" "2021-03-18 13:20:30" "" "" "SEQ" "DNA" "" "FZD4, LRP5, TSPAN12" "0000360236" "00358999" "1" "00000" "00006" "2021-03-18 13:20:30" "" "" "SEQ" "DNA" "" "FZD4, LRP5, TSPAN12" "0000374696" "00373461" "1" "00000" "00006" "2021-05-14 15:31:46" "" "" "SEQ-NG" "DNA" "" "163-gene panel" "0000381971" "00380757" "1" "00000" "03840" "2021-08-23 12:02:42" "" "" "SEQ-NG" "DNA" "blood" "" "0000381972" "00380758" "1" "00000" "03840" "2021-08-23 12:02:42" "" "" "SEQ-NG" "DNA" "blood" "" "0000381973" "00380759" "1" "00000" "03840" "2021-08-23 12:02:42" "" "" "SEQ-NG" "DNA" "blood" "" "0000384951" "00383726" "1" "00000" "03840" "2021-09-29 12:31:11" "" "" "SEQ-NG;SEQ" "DNA" "blood" "" "0000384952" "00383727" "1" "00000" "03840" "2021-09-29 12:31:11" "" "" "SEQ-NG;SEQ" "DNA" "blood" "" "0000385179" "00383954" "1" "00000" "03840" "2021-09-29 13:11:15" "" "" "arraySNP;SEQ" "DNA" "" "" "0000397835" "00396592" "1" "00000" "00008" "2021-12-16 13:33:12" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000414309" "00413038" "1" "00000" "03840" "2022-07-08 10:02:07" "" "" "?" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 43 "{{screeningid}}" "{{geneid}}" "0000234286" "ZNF408" "0000234287" "ZNF408" "0000234288" "ZNF408" "0000234289" "ZNF408" "0000234290" "ZNF408" "0000234291" "ZNF408" "0000234292" "ZNF408" "0000234293" "ZNF408" "0000234294" "ZNF408" "0000234295" "ZNF408" "0000234296" "ZNF408" "0000234297" "ZNF408" "0000234298" "ZNF408" "0000234299" "ZNF408" "0000234300" "ZNF408" "0000234871" "ZNF408" "0000265072" "ZNF408" "0000265073" "ZNF408" "0000265074" "ZNF408" "0000265075" "ZNF408" "0000265076" "ZNF408" "0000265095" "PASK" "0000265095" "ZNF408" "0000265169" "PASK" "0000265169" "ZNF408" "0000265170" "PASK" "0000265170" "ZNF408" "0000265171" "ZNF408" "0000265172" "ZNF408" "0000310659" "ZNF408" "0000310660" "ZNF408" "0000335114" "ZNF408" "0000335115" "ZNF408" "0000336526" "ZNF408" "0000374696" "ZNF408" "0000381971" "FZD4" "0000381972" "FZD4" "0000381973" "NDP" "0000384951" "ZNF408" "0000384952" "ZNF408" "0000385179" "ZNF408" "0000397835" "RP1" "0000414309" "ZNF408" ## 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 = 117 "{{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}}" "0000247042" "0" "30" "11" "46722632" "46722632" "subst" "0.000204272" "02330" "ZNF408_000001" "g.46722632A>G" "" "" "" "ZNF408(NM_024741.3):c.35A>G (p.K12R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46701082A>G" "" "likely benign" "" "0000253674" "0" "10" "11" "46727221" "46727221" "subst" "0.00180538" "01943" "ZNF408_000016" "g.46727221A>G" "" "" "" "ZNF408(NM_024741.2):c.1971A>G (p.Q657=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46705671A>G" "" "benign" "" "0000311446" "0" "10" "11" "46726260" "46726260" "subst" "0.00227354" "02330" "ZNF408_000010" "g.46726260G>C" "" "" "" "ZNF408(NM_024741.3):c.1010G>C (p.R337P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46704710G>C" "" "benign" "" "0000311447" "0" "10" "11" "46726747" "46726747" "subst" "0.00237806" "02330" "ZNF408_000011" "g.46726747G>A" "" "" "" "ZNF408(NM_024741.2):c.1497G>A (p.P499=), ZNF408(NM_024741.3):c.1497G>A (p.P499=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46705197G>A" "" "benign" "" "0000311448" "0" "50" "11" "46726823" "46726823" "subst" "2.48207E-5" "02330" "ZNF408_000012" "g.46726823C>T" "" "" "" "ZNF408(NM_024741.3):c.1573C>T (p.R525C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46705273C>T" "" "VUS" "" "0000311449" "0" "50" "11" "46727036" "46727036" "subst" "0" "02330" "ZNF408_000013" "g.46727036C>T" "" "" "" "ZNF408(NM_024741.2):c.1786C>T (p.R596C), ZNF408(NM_024741.3):c.1786C>T (p.R596C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46705486C>T" "" "VUS" "" "0000311450" "0" "50" "11" "46727181" "46727181" "subst" "0" "02330" "ZNF408_000015" "g.46727181C>A" "" "" "" "ZNF408(NM_024741.3):c.1931C>A (p.A644D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46705631C>A" "" "VUS" "" "0000311451" "0" "10" "11" "46723095" "46723095" "subst" "0.000793038" "02330" "ZNF408_000004" "g.46723095C>G" "" "" "" "ZNF408(NM_024741.3):c.199C>G (p.L67V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46701545C>G" "" "benign" "" "0000311452" "0" "10" "11" "46722685" "46722685" "subst" "0.00329309" "02330" "ZNF408_000002" "g.46722685G>C" "" "" "" "ZNF408(NM_001184751.1):c.22G>C (p.G8R, p.(Gly8Arg)), ZNF408(NM_001184751.2):c.22G>C (p.G8R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46701135G>C" "" "benign" "" "0000311453" "0" "30" "11" "46723136" "46723136" "subst" "0.000465298" "02330" "ZNF408_000005" "g.46723136C>T" "" "" "" "ZNF408(NM_024741.3):c.240C>T (p.D80=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46701586C>T" "" "likely benign" "" "0000311454" "0" "30" "11" "46725893" "46725893" "subst" "0" "02330" "ZNF408_000008" "g.46725893T>G" "" "" "" "ZNF408(NM_024741.3):c.653-10T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46704343T>G" "" "likely benign" "" "0000311455" "0" "10" "11" "46725887" "46725887" "subst" "0.000315177" "02330" "ZNF408_000007" "g.46725887C>A" "" "" "" "ZNF408(NM_024741.3):c.653-16C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46704337C>A" "" "benign" "" "0000320243" "0" "50" "11" "46726257" "46726257" "subst" "5.83542E-5" "01943" "ZNF408_000009" "g.46726257C>T" "" "" "" "ZNF408(NM_024741.2):c.1007C>T (p.S336L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46704707C>T" "" "VUS" "" "0000320244" "0" "30" "11" "46726747" "46726747" "subst" "0.00237806" "01943" "ZNF408_000011" "g.46726747G>A" "" "" "" "ZNF408(NM_024741.2):c.1497G>A (p.P499=), ZNF408(NM_024741.3):c.1497G>A (p.P499=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46705197G>A" "" "likely benign" "" "0000320245" "0" "50" "11" "46727036" "46727036" "subst" "0" "01943" "ZNF408_000013" "g.46727036C>T" "" "" "" "ZNF408(NM_024741.2):c.1786C>T (p.R596C), ZNF408(NM_024741.3):c.1786C>T (p.R596C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46705486C>T" "" "VUS" "" "0000320246" "0" "50" "11" "46727139" "46727139" "subst" "0.000289333" "01943" "ZNF408_000014" "g.46727139G>C" "" "" "" "ZNF408(NM_024741.2):c.1889G>C (p.R630P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46705589G>C" "" "VUS" "" "0000320247" "0" "50" "11" "46727387" "46727387" "subst" "0.000231834" "01943" "ZNF408_000017" "g.46727387G>A" "" "" "" "ZNF408(NM_024741.2):c.2137G>A (p.V713M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46705837G>A" "" "VUS" "" "0000320248" "0" "30" "11" "46722685" "46722685" "subst" "0.00329309" "01943" "ZNF408_000002" "g.46722685G>C" "" "" "" "ZNF408(NM_001184751.1):c.22G>C (p.G8R, p.(Gly8Arg)), ZNF408(NM_001184751.2):c.22G>C (p.G8R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46701135G>C" "" "likely benign" "" "0000320249" "0" "50" "11" "46724598" "46724598" "subst" "0.000300938" "01943" "ZNF408_000006" "g.46724598C>T" "" "" "" "ZNF408(NM_024741.2):c.457C>T (p.L153F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46703048C>T" "" "VUS" "" "0000320250" "0" "30" "11" "46722945" "46722945" "subst" "4.11692E-6" "01943" "ZNF408_000003" "g.46722945G>A" "" "" "" "ZNF408(NM_024741.2):c.53-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46701395G>A" "" "likely benign" "" "0000343152" "0" "50" "11" "46727036" "46727036" "subst" "0" "02327" "ZNF408_000013" "g.46727036C>T" "" "" "" "ZNF408(NM_024741.2):c.1786C>T (p.R596C), ZNF408(NM_024741.3):c.1786C>T (p.R596C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46705486C>T" "" "VUS" "" "0000476994" "0" "90" "11" "46724300" "46724300" "subst" "4.06075E-5" "02591" "ZNF408_000018" "g.46724300G>A" "4/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs536561101" "0" "" "" "g.46702750G>A" "" "pathogenic" "" "0000476995" "0" "50" "11" "46724722" "46724733" "del" "0" "02591" "ZNF408_000019" "g.46724722_46724733del" "565/1203 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs148055528" "0" "" "" "g.46703172_46703183del" "" "VUS" "" "0000476996" "0" "90" "11" "46724745" "46724745" "subst" "0" "02591" "ZNF408_000020" "g.46724745C>T" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.46703195C>T" "" "pathogenic" "" "0000476997" "0" "50" "11" "46725954" "46725954" "subst" "4.08133E-6" "02591" "ZNF408_000021" "g.46725954C>G" "6/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs764632543" "0" "" "" "g.46704404C>G" "" "VUS" "" "0000476998" "0" "50" "11" "46726142" "46726142" "subst" "0.000244109" "02591" "ZNF408_000022" "g.46726142G>A" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs371633363" "0" "" "" "g.46704592G>A" "" "VUS" "" "0000476999" "0" "50" "11" "46726304" "46726304" "subst" "3.94609E-5" "02591" "ZNF408_000023" "g.46726304C>T" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs534022710" "0" "" "" "g.46704754C>T" "" "VUS" "" "0000477000" "0" "50" "11" "46726305" "46726305" "subst" "0" "02591" "ZNF408_000024" "g.46726305G>A" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.46704755G>A" "" "VUS" "" "0000477001" "0" "50" "11" "46726469" "46726469" "subst" "0" "02591" "ZNF408_000025" "g.46726469C>T" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.46704919C>T" "" "VUS" "" "0000477002" "0" "50" "11" "46726554" "46726554" "subst" "0.000122203" "02591" "ZNF408_000026" "g.46726554G>A" "3/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs185413257" "0" "" "" "g.46705004G>A" "" "VUS" "" "0000477003" "0" "50" "11" "46726796" "46726796" "subst" "2.07096E-5" "02591" "ZNF408_000027" "g.46726796C>T" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs754950117" "0" "" "" "g.46705246C>T" "" "VUS" "" "0000477004" "0" "50" "11" "46726797" "46726797" "subst" "8.27363E-6" "02591" "ZNF408_000028" "g.46726797G>A" "3/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs147829946" "0" "" "" "g.46705247G>A" "" "VUS" "" "0000477005" "0" "90" "11" "46727032" "46727032" "dup" "0" "02591" "ZNF408_000029" "g.46727032dup" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.46705482dup" "" "pathogenic" "" "0000477006" "0" "50" "11" "46727120" "46727120" "subst" "0" "02591" "ZNF408_000030" "g.46727120C>T" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs771261129" "0" "" "" "g.46705570C>T" "" "VUS" "" "0000477007" "0" "50" "11" "46727282" "46727282" "subst" "0" "02591" "ZNF408_000031" "g.46727282A>G" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.46705732A>G" "" "VUS" "" "0000477008" "0" "50" "11" "46727297" "46727299" "del" "0" "02591" "ZNF408_000032" "g.46727297_46727299del" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.46705747_46705749del" "" "VUS" "" "0000477579" "3" "50" "11" "46724722" "46724733" "del" "0" "02591" "ZNF408_000019" "g.46724722_46724733del" "467/1203 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs148055528" "0" "" "" "g.46703172_46703183del" "" "VUS" "" "0000544004" "0" "30" "11" "46722627" "46722627" "subst" "1.22506E-5" "01943" "ARHGAP1_000001" "g.46722627G>C" "" "" "" "ZNF408(NM_024741.2):c.30G>C (p.E10D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46701077G>C" "" "likely benign" "" "0000544005" "0" "30" "11" "46722685" "46722685" "subst" "0.00329309" "01804" "ZNF408_000002" "g.46722685G>C" "" "" "" "ZNF408(NM_001184751.1):c.22G>C (p.G8R, p.(Gly8Arg)), ZNF408(NM_001184751.2):c.22G>C (p.G8R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46701135G>C" "" "likely benign" "" "0000544006" "0" "30" "11" "46723022" "46723022" "subst" "0.000607229" "01804" "ARHGAP1_000002" "g.46723022C>G" "" "" "" "ZNF408(NM_001184751.1):c.102C>G (p.(Asp34Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46701472C>G" "" "likely benign" "" "0000544007" "0" "10" "11" "46724722" "46724733" "del" "0" "02327" "ZNF408_000019" "g.46724722_46724733del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46703172_46703183del" "" "benign" "" "0000544008" "0" "10" "11" "46725885" "46725885" "subst" "0.000783789" "02330" "ARHGAP1_000003" "g.46725885C>T" "" "" "" "ZNF408(NM_024741.3):c.653-18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46704335C>T" "" "benign" "" "0000544009" "0" "50" "11" "46725939" "46725939" "subst" "0.00061306" "01943" "ARHGAP1_000004" "g.46725939A>G" "" "" "" "ZNF408(NM_024741.2):c.689A>G (p.E230G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46704389A>G" "" "VUS" "" "0000544010" "0" "30" "11" "46725946" "46725946" "subst" "0" "02330" "ARHGAP1_000005" "g.46725946G>A" "" "" "" "ZNF408(NM_024741.3):c.696G>A (p.M232I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46704396G>A" "" "likely benign" "" "0000544011" "0" "10" "11" "46726153" "46726153" "subst" "0.000179034" "02330" "ARHGAP1_000006" "g.46726153G>T" "" "" "" "ZNF408(NM_024741.2):c.903G>T (p.P301=), ZNF408(NM_024741.3):c.903G>T (p.P301=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46704603G>T" "" "benign" "" "0000544012" "0" "50" "11" "46726311" "46726311" "subst" "1.7271E-5" "02330" "ARHGAP1_000007" "g.46726311G>A" "" "" "" "ZNF408(NM_024741.3):c.1061G>A (p.R354Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46704761G>A" "" "VUS" "" "0000544013" "0" "50" "11" "46726364" "46726364" "subst" "7.66264E-5" "02330" "ARHGAP1_000008" "g.46726364G>A" "" "" "" "ZNF408(NM_024741.3):c.1114G>A (p.A372T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46704814G>A" "" "VUS" "" "0000544014" "0" "50" "11" "46726784" "46726784" "subst" "1.24052E-5" "01943" "ARHGAP1_000009" "g.46726784C>T" "" "" "" "ZNF408(NM_024741.2):c.1534C>T (p.R512C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46705234C>T" "" "VUS" "" "0000544015" "0" "30" "11" "46726894" "46726894" "subst" "0.00039345" "01943" "ARHGAP1_000010" "g.46726894G>A" "" "" "" "ZNF408(NM_001184751.2):c.1620G>A (p.G540=), ZNF408(NM_024741.2):c.1644G>A (p.G548=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46705344G>A" "" "likely benign" "" "0000544016" "0" "10" "11" "46727269" "46727269" "subst" "0" "02330" "ZNF408_000033" "g.46727269T>G" "" "" "" "ZNF408(NM_024741.2):c.2019T>G (p.V673=), ZNF408(NM_024741.3):c.2019T>G (p.V673=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46705719T>G" "" "benign" "" "0000544017" "0" "50" "11" "46727308" "46727308" "subst" "0.000184644" "02330" "ZNF408_000034" "g.46727308T>G" "" "" "" "ZNF408(NM_024741.2):c.2058T>G (p.F686L), ZNF408(NM_024741.3):c.2058T>G (p.F686L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46705758T>G" "" "VUS" "" "0000595653" "3" "90" "11" "46724286" "46724287" "del" "0" "03383" "ZNF408_000035" "g.46724286_46724287del" "" "{PMID:Avila-Fernandez 2015:25882705}" "" "358_359delGT" "not in 374 control chromosomes" "Germline" "?" "" "0" "" "" "g.46702736_46702737del" "" "likely pathogenic (recessive)" "" "0000595654" "3" "90" "11" "46724286" "46724287" "del" "0" "03383" "ZNF408_000035" "g.46724286_46724287del" "" "{PMID:Avila-Fernandez 2015:25882705}" "" "358_359delGT" "not in 384 control alleles tested" "Germline" "yes" "" "0" "" "" "g.46702736_46702737del" "" "likely pathogenic (recessive)" "" "0000595655" "3" "90" "11" "46726871" "46726871" "subst" "2.48513E-5" "03383" "ZNF408_000037" "g.46726871C>T" "0/374 control chromosomes" "{PMID:Avila-Fernandez 2015:25882705}" "" "" "highly conserved (cross-species comparison)" "Germline" "?" "" "0" "" "" "g.46705321C>T" "" "pathogenic (recessive)" "" "0000595656" "3" "90" "11" "46726724" "46726724" "subst" "2.05768E-5" "03383" "ZNF408_000036" "g.46726724G>A" "0/150 control alleles" "{PMID:Avila-Fernandez 2015:25882705}" "" "" "possibly variant is not responsible for disease phenotype (although affects function), highly conserved" "Germline" "?" "" "0" "" "" "g.46705174G>A" "" "likely pathogenic (recessive)" "" "0000595657" "3" "90" "11" "46726997" "46726997" "subst" "0" "03383" "ZNF408_000038" "g.46726997C>A" "0/150 control alleles" "{PMID:Avila-Fernandez 2015:25882705}" "" "" "not known if variant is responsible for phenotype although affects function, highly conserved" "Germline" "?" "" "0" "" "" "g.46705447C>A" "" "likely pathogenic (recessive)" "" "0000595658" "3" "90" "11" "46726554" "46726554" "subst" "0.000122203" "03383" "ZNF408_000026" "g.46726554G>A" "0/100 control alleles" "{PMID:Biswas 2018:29721947}" "" "" "PolyPhen2 (0.983)" "Germline" "yes" "rs185413257" "0" "" "" "g.46705004G>A" "" "likely pathogenic (recessive)" "" "0000595660" "3" "90" "11" "46726554" "46726554" "subst" "0.000122203" "03383" "ZNF408_000026" "g.46726554G>A" "0/100 control alleles" "{PMID:Biswas 2018:29721947}" "" "" "" "Germline" "yes" "rs185413257" "0" "" "" "g.46705004G>A" "" "likely pathogenic (recessive)" "" "0000595676" "10" "90" "11" "46726613" "46726613" "subst" "1.22952E-5" "03383" "ZNF408_000040" "g.46726613C>T" "" "{PMID:Collins 2013:23716654}" "" "" "not in 220 control alleles tested" "Germline" "yes" "" "0" "" "" "g.46705063C>T" "" "pathogenic (dominant)" "" "0000595679" "11" "90" "11" "46726613" "46726613" "subst" "1.22952E-5" "03383" "ZNF408_000040" "g.46726613C>T" "" "{PMID:Collins 2013:23716654}" "" "" "not in 220 control alleles" "Germline" "yes" "" "0" "" "" "g.46705063C>T" "" "pathogenic (dominant)" "" "0000595751" "20" "90" "11" "46726613" "46726613" "subst" "1.22952E-5" "03383" "ZNF408_000040" "g.46726613C>T" "" "{PMID:Collins 2013:23716654}" "" "" "not in 220 control alleles" "Germline" "?" "" "0" "" "" "g.46705063C>T" "" "pathogenic (dominant)" "" "0000595752" "20" "90" "11" "46726613" "46726613" "subst" "1.22952E-5" "03383" "ZNF408_000040" "g.46726613C>T" "" "{PMID:Collins 2013:23716654}" "" "" "mother not studied in enough detail to establish presence of FEVR (although nonpenetrance possible)" "Germline" "?" "" "0" "" "" "g.46705063C>T" "" "pathogenic (dominant)" "" "0000595753" "11" "90" "11" "46724300" "46724300" "subst" "4.06075E-5" "03383" "ZNF408_000018" "g.46724300G>A" "0/382 control alleles" "{PMID:Collins 2013:23716654}" "" "" "" "Germline" "yes" "" "0" "" "" "g.46702750G>A" "" "likely pathogenic (dominant)" "" "0000595754" "1" "90" "11" "46724300" "46724300" "subst" "4.06075E-5" "03383" "ZNF408_000018" "g.46724300G>A" "0/382 control alleles" "{PMID:Collins 2013:23716654}" "" "" "" "Germline" "?" "" "0" "" "" "g.46702750G>A" "" "likely pathogenic (dominant)" "" "0000595755" "3" "90" "11" "46725902" "46725902" "subst" "0" "03383" "ZNF408_000039" "g.46725902G>T" "" "{PMID:Habibi 2017:28095122}" "" "" "" "Germline" "yes" "" "0" "" "" "g.46704352G>T" "" "pathogenic (recessive)" "" "0000595756" "3" "90" "11" "46725902" "46725902" "subst" "0" "03383" "ZNF408_000039" "g.46725902G>T" "" "{PMID:Habibi 2017:28095122}" "" "" "" "Germline" "yes" "" "0" "" "" "g.46704352G>T" "" "pathogenic (recessive)" "" "0000595757" "3" "90" "11" "46725902" "46725902" "subst" "0" "03383" "ZNF408_000039" "g.46725902G>T" "" "{PMID:Habibi 2017:28095122}" "" "" "" "Germline" "yes" "" "0" "" "" "g.46704352G>T" "" "pathogenic (recessive)" "" "0000613348" "0" "30" "11" "46724643" "46724643" "subst" "7.83835E-5" "02330" "ARHGAP1_000011" "g.46724643C>T" "" "" "" "ZNF408(NM_024741.3):c.502C>T (p.L168=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46703093C>T" "" "likely benign" "" "0000613349" "0" "30" "11" "46727139" "46727139" "subst" "4.13332E-5" "01943" "ARHGAP1_000012" "g.46727139G>A" "" "" "" "ZNF408(NM_024741.2):c.1889G>A (p.R630Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46705589G>A" "" "likely benign" "" "0000613350" "0" "30" "11" "46727269" "46727269" "subst" "0" "01943" "ZNF408_000033" "g.46727269T>G" "" "" "" "ZNF408(NM_024741.2):c.2019T>G (p.V673=), ZNF408(NM_024741.3):c.2019T>G (p.V673=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46705719T>G" "" "likely benign" "" "0000629502" "0" "50" "11" "46726721" "46726721" "subst" "0" "03383" "ZNF408_000041" "g.46726721A>G" "" "{PMID:Weiner 2019:30998249}" "" "" "" "Unknown" "" "" "0" "" "" "g.46705171A>G" "" "VUS" "" "0000656795" "0" "50" "11" "46727274" "46727274" "subst" "0" "01943" "ZNF408_000042" "g.46727274A>G" "" "" "" "ZNF408(NM_024741.2):c.2024A>G (p.E675G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46705724A>G" "" "VUS" "" "0000679193" "0" "50" "11" "46726911" "46726911" "subst" "2.5078E-5" "01943" "ARHGAP1_000013" "g.46726911C>T" "" "" "" "ZNF408(NM_024741.2):c.1661C>T (p.P554L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000685570" "0" "70" "11" "46726424" "46726424" "subst" "0" "00004" "ZNF408_000043" "g.46726424T>C" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000685571" "0" "90" "11" "46726947" "46726947" "subst" "4.17463E-6" "00004" "ZNF408_000044" "g.46726947T>A" "2/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000723455" "0" "30" "11" "46726153" "46726153" "subst" "0.000179034" "01943" "ARHGAP1_000006" "g.46726153G>T" "" "" "" "ZNF408(NM_024741.2):c.903G>T (p.P301=), ZNF408(NM_024741.3):c.903G>T (p.P301=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000723456" "0" "30" "11" "46727140" "46727140" "subst" "0.000991785" "01943" "ARHGAP1_000014" "g.46727140G>A" "" "" "" "ZNF408(NM_024741.2):c.1890G>A (p.R630=), ZNF408(NM_024741.3):c.1890G>A (p.R630=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000729812" "1" "50" "11" "46724694" "46724705" "del" "0" "00006" "ZNF408_000045" "g.46724694_46724705del" "" "{PMID:Su 2018:29652990}" "" "552_563del" "variant found in unaffected members" "Germline" "no" "" "0" "" "" "g.46703144_46703155del" "" "VUS" "" "0000733123" "1" "70" "11" "46726613" "46726613" "subst" "1.22952E-5" "00000" "ZNF408_000040" "g.46726613C>T" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.46705063C>T" "" "likely pathogenic" "" "0000733124" "1" "70" "11" "46726602" "46726602" "subst" "0" "00000" "ZNF408_000046" "g.46726602C>G" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.46705052C>G" "" "likely pathogenic" "" "0000733576" "2" "70" "11" "46726949" "46726949" "subst" "1.67311E-5" "00000" "ZNF408_000047" "g.46726949C>T" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.46705399C>T" "" "likely pathogenic" "" "0000733577" "2" "70" "11" "46727387" "46727387" "subst" "0.000231834" "00000" "ZNF408_000017" "g.46727387G>A" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.46705837G>A" "" "likely pathogenic" "" "0000735922" "1" "70" "11" "46726592" "46726592" "subst" "1.63538E-5" "02485" "ZNF408_000048" "g.46726592C>T" "" "{PMID:Bravo-Gil 2017:28157192}" "" "" "" "Germline" "" "" "0" "" "" "g.46705042C>T" "" "likely pathogenic" "" "0000735978" "2" "70" "11" "46726822" "46726822" "subst" "0" "02485" "ZNF408_000049" "g.46726822C>A" "" "{PMID:Bravo-Gil 2017:28157192}" "" "" "" "Germline" "" "" "0" "" "" "g.46705272C>A" "" "likely pathogenic" "" "0000760022" "0" "50" "11" "46726592" "46726592" "subst" "1.63538E-5" "00000" "ZNF408_000048" "g.46726592C>T" "" "{PMID:Tiwari 2016:27353947}" "" "" "" "Germline" "" "" "0" "" "" "g.46705042C>T" "" "VUS" "" "0000760123" "0" "50" "11" "46723026" "46723026" "subst" "0" "00000" "ZNF408_000050" "g.46723026C>T" "" "{PMID:Musada 2016:27316669}" "" "" "" "Germline" "" "" "0" "" "" "g.46701476C>T" "" "VUS" "" "0000760124" "0" "90" "11" "46727395" "46727395" "subst" "0" "00000" "ZNF408_000052" "g.46727395G>T" "" "{PMID:Musada 2016:27316669}" "" "" "" "Germline" "" "" "0" "" "" "g.46705845G>T" "" "pathogenic" "" "0000760126" "0" "50" "11" "46725944" "46725944" "subst" "0" "00000" "ZNF408_000051" "g.46725944A>G" "" "{PMID:Musada 2016:27316669}" "" "" "" "Germline" "" "" "0" "" "" "g.46704394A>G" "" "VUS" "" "0000785509" "0" "90" "11" "46724584" "46724584" "subst" "8.13233E-6" "00000" "ZNF408_000053" "g.46724584G>A" "" "{PMID:Salvo 2015:25711638}" "" "" "" "Germline" "yes" "" "0" "" "" "g.46703034G>A" "" "pathogenic" "" "0000795602" "21" "50" "11" "46726142" "46726142" "subst" "0.000244109" "00000" "ZNF408_000022" "g.46726142G>A" "" "{PMID:Surl 2020:32165824}" "" "c.868G>A, p.G290S" "different transcript: NM_001184751.1(ZNF408):c.868G>A, p.(Gly290Ser)" "Germline" "yes" "" "0" "" "" "g.46704592G>A" "" "VUS" "ACMG" "0000795604" "11" "50" "11" "46727238" "46727238" "subst" "2.857E-5" "00000" "ZNF408_000054" "g.46727238G>C" "" "{PMID:Surl 2020:32165824}" "" "c.1964G>C, p.r655T" "different transcript: NM_001184751.1(ZNF408):c.1964G>C, p.(Arg655Thr)" "Germline" "yes" "" "0" "" "" "g.46705688G>C" "" "VUS" "ACMG" "0000795605" "11" "70" "11" "46727239" "46727242" "del" "0" "00000" "ZNF408_000055" "g.46727239_46727242del" "" "{PMID:Surl 2020:32165824}" "" "c.1963_, p.R655fs" "different transcript: NM_001184751.1(ZNF408):c.1965_1968del, p.(Glu656Argfs*36)" "Germline" "yes" "" "0" "" "" "g.46705689_46705692del" "" "likely pathogenic" "ACMG" "0000805129" "0" "50" "11" "46724314" "46724314" "subst" "0" "01943" "ARHGAP1_000015" "g.46724314A>C" "" "" "" "ZNF408(NM_024741.2):c.391A>C (p.S131R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000805130" "0" "30" "11" "46724537" "46724537" "subst" "0" "01943" "ARHGAP1_000016" "g.46724537G>A" "" "" "" "ZNF408(NM_024741.2):c.396G>A (p.L132=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805131" "0" "30" "11" "46726343" "46726343" "subst" "0" "02330" "ARHGAP1_000017" "g.46726343C>T" "" "" "" "ZNF408(NM_024741.3):c.1093C>T (p.L365=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805132" "0" "30" "11" "46726911" "46726911" "subst" "2.5078E-5" "02327" "ARHGAP1_000013" "g.46726911C>T" "" "" "" "ZNF408(NM_024741.2):c.1661C>T (p.P554L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805133" "0" "30" "11" "46727005" "46727005" "subst" "0.00267772" "01943" "ARHGAP1_000018" "g.46727005C>T" "" "" "" "ZNF408(NM_024741.2):c.1755C>T (p.G585=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805134" "0" "50" "11" "46727308" "46727308" "subst" "0.000184644" "01943" "ZNF408_000034" "g.46727308T>G" "" "" "" "ZNF408(NM_024741.2):c.2058T>G (p.F686L), ZNF408(NM_024741.3):c.2058T>G (p.F686L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000811789" "0" "70" "11" "46726357" "46726357" "del" "0" "00000" "ZNF408_000056" "g.46726357del" "" "{PMID:Tian 2019:31169861}" "" "c.1083delG;p.K361fsa" "different transcript: NM_001184751.1(ZNF408):c.1083del" "Germline/De novo (untested)" "?" "" "0" "" "" "g.46704807del" "" "likely pathogenic" "" "0000811790" "0" "70" "11" "46727399" "46727399" "subst" "1.24371E-5" "00000" "ZNF408_000057" "g.46727399G>A" "" "{PMID:Tian 2019:31169861}" "" "c.2125G>A;p.E709Ka" "different transcript: NM_001184751.1(ZNF408):c.2125G>A" "Germline/De novo (untested)" "?" "" "0" "" "" "g.46705849G>A" "" "likely pathogenic" "" "0000812080" "0" "70" "11" "46726871" "46726871" "subst" "2.48513E-5" "00000" "ZNF408_000037" "g.46726871C>T" "" "{PMID:Martin Merida 2019:30902645}" "" "ZNF408 Ex.5 c.1621C>T p.(Arg541Cys), Ex.5 c.1621C>T p.(Arg541Cys), CRB1: p.(Phe144Val) Ex.2 c.430T>G" "homozygous" "Germline" "yes" "" "0" "" "" "g.46705321C>T" "" "likely pathogenic" "" "0000829989" "3" "50" "11" "46724300" "46724300" "subst" "4.06075E-5" "00000" "ZNF408_000018" "g.46724300G>A" "" "{PMID:Numa-2020:33247286}" "" "c.377G>A:p.S126N" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000852909" "0" "50" "11" "46726554" "46726554" "subst" "0.000122203" "01943" "ZNF408_000026" "g.46726554G>A" "" "" "" "ZNF408(NM_024741.2):c.1304G>A (p.R435Q), ZNF408(NM_024741.3):c.1304G>A (p.(Arg435Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000852910" "0" "50" "11" "46726661" "46726661" "subst" "0" "01943" "ARHGAP1_000020" "g.46726661C>A" "" "" "" "ZNF408(NM_024741.2):c.1411C>A (p.P471T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000862538" "0" "50" "11" "46724256" "46724256" "subst" "1.62439E-5" "01943" "ARHGAP1_000019" "g.46724256C>G" "" "" "" "ZNF408(NM_024741.2):c.333C>G (p.N111K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000871946" "0" "70" "11" "46726557" "46726557" "subst" "4.48062E-5" "00000" "ZNF408_000058" "g.46726557C>T" "" "{PMID:Tanenbaum 2020:32530348}" "" "ZNF408 c.1307 C > T" "heterozygous; no protein annotation" "Unknown" "?" "" "0" "" "" "g.46705007C>T" "" "likely pathogenic (recessive)" "" "0000889836" "0" "50" "11" "46726613" "46726613" "subst" "1.22952E-5" "02327" "ZNF408_000040" "g.46726613C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000889837" "0" "30" "11" "46727140" "46727140" "subst" "0.000991785" "02330" "ARHGAP1_000014" "g.46727140G>A" "" "" "" "ZNF408(NM_024741.2):c.1890G>A (p.R630=), ZNF408(NM_024741.3):c.1890G>A (p.R630=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000913582" "0" "50" "11" "46726389" "46726389" "subst" "0" "02327" "ARHGAP1_000021" "g.46726389C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000949666" "0" "30" "11" "46723172" "46723172" "subst" "9.30217E-5" "02330" "ARHGAP1_000022" "g.46723172A>G" "" "" "" "ZNF408(NM_001184751.2):c.252A>G (p.E84=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949667" "0" "30" "11" "46725976" "46725976" "subst" "2.03184E-5" "02330" "ARHGAP1_000023" "g.46725976G>A" "" "" "" "ZNF408(NM_001184751.2):c.702G>A (p.Q234=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000966373" "0" "50" "11" "46726304" "46726304" "subst" "3.94609E-5" "02327" "ZNF408_000023" "g.46726304C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000966374" "0" "30" "11" "46726894" "46726894" "subst" "0.00039345" "02330" "ARHGAP1_000010" "g.46726894G>A" "" "" "" "ZNF408(NM_001184751.2):c.1620G>A (p.G540=), ZNF408(NM_024741.2):c.1644G>A (p.G548=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999048" "0" "50" "11" "46726595" "46726595" "subst" "2.45318E-5" "01804" "ARHGAP1_000024" "g.46726595C>T" "" "" "" "ZNF408(NM_001184751.1):c.1321C>T (p.(Gln441*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038466" "0" "50" "11" "46726554" "46726554" "subst" "0.000122203" "01804" "ZNF408_000026" "g.46726554G>A" "" "" "" "ZNF408(NM_024741.2):c.1304G>A (p.R435Q), ZNF408(NM_024741.3):c.1304G>A (p.(Arg435Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046311" "0" "50" "11" "46727036" "46727036" "subst" "0" "02325" "ZNF408_000013" "g.46727036C>T" "" "" "" "ZNF408(NM_024741.2):c.1786C>T (p.R596C), ZNF408(NM_024741.3):c.1786C>T (p.R596C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046312" "0" "50" "11" "46727308" "46727308" "subst" "0.000184644" "02325" "ZNF408_000034" "g.46727308T>G" "" "" "" "ZNF408(NM_024741.2):c.2058T>G (p.F686L), ZNF408(NM_024741.3):c.2058T>G (p.F686L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes ZNF408 ## Count = 117 "{{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}}" "0000247042" "00023423" "30" "35" "0" "35" "0" "c.35A>G" "r.(?)" "p.(Lys12Arg)" "" "0000253674" "00023423" "10" "1971" "0" "1971" "0" "c.1971A>G" "r.(?)" "p.(Gln657=)" "" "0000311446" "00023423" "10" "1010" "0" "1010" "0" "c.1010G>C" "r.(?)" "p.(Arg337Pro)" "" "0000311447" "00023423" "10" "1497" "0" "1497" "0" "c.1497G>A" "r.(?)" "p.(Pro499=)" "" "0000311448" "00023423" "50" "1573" "0" "1573" "0" "c.1573C>T" "r.(?)" "p.(Arg525Cys)" "" "0000311449" "00023423" "50" "1786" "0" "1786" "0" "c.1786C>T" "r.(?)" "p.(Arg596Cys)" "" "0000311450" "00023423" "50" "1931" "0" "1931" "0" "c.1931C>A" "r.(?)" "p.(Ala644Asp)" "" "0000311451" "00023423" "10" "199" "0" "199" "0" "c.199C>G" "r.(?)" "p.(Leu67Val)" "" "0000311452" "00023423" "10" "52" "36" "52" "36" "c.52+36G>C" "r.(=)" "p.(=)" "" "0000311453" "00023423" "30" "240" "0" "240" "0" "c.240C>T" "r.(?)" "p.(Asp80=)" "" "0000311454" "00023423" "30" "653" "-10" "653" "-10" "c.653-10T>G" "r.(=)" "p.(=)" "" "0000311455" "00023423" "10" "653" "-16" "653" "-16" "c.653-16C>A" "r.(=)" "p.(=)" "" "0000320243" "00023423" "50" "1007" "0" "1007" "0" "c.1007C>T" "r.(?)" "p.(Ser336Leu)" "" "0000320244" "00023423" "30" "1497" "0" "1497" "0" "c.1497G>A" "r.(?)" "p.(Pro499=)" "" "0000320245" "00023423" "50" "1786" "0" "1786" "0" "c.1786C>T" "r.(?)" "p.(Arg596Cys)" "" "0000320246" "00023423" "50" "1889" "0" "1889" "0" "c.1889G>C" "r.(?)" "p.(Arg630Pro)" "" "0000320247" "00023423" "50" "2137" "0" "2137" "0" "c.2137G>A" "r.(?)" "p.(Val713Met)" "" "0000320248" "00023423" "30" "52" "36" "52" "36" "c.52+36G>C" "r.(=)" "p.(=)" "" "0000320249" "00023423" "50" "457" "0" "457" "0" "c.457C>T" "r.(?)" "p.(Leu153Phe)" "" "0000320250" "00023423" "30" "53" "-4" "53" "-4" "c.53-4G>A" "r.spl?" "p.?" "" "0000343152" "00023423" "50" "1786" "0" "1786" "0" "c.1786C>T" "r.(?)" "p.(Arg596Cys)" "" "0000476994" "00023423" "90" "377" "0" "377" "0" "c.377G>A" "r.(?)" "p.(Ser126Asn)" "" "0000476995" "00023423" "50" "581" "0" "592" "0" "c.581_592del" "r.(?)" "p.(Val194_Val197del)" "" "0000476996" "00023423" "90" "604" "0" "604" "0" "c.604C>T" "r.(?)" "p.(Gln202*)" "" "0000476997" "00023423" "50" "704" "0" "704" "0" "c.704C>G" "r.(?)" "p.(Pro235Arg)" "" "0000476998" "00023423" "50" "892" "0" "892" "0" "c.892G>A" "r.(?)" "p.(Gly298Ser)" "" "0000476999" "00023423" "50" "1054" "0" "1054" "0" "c.1054C>T" "r.(?)" "p.(Arg352Trp)" "" "0000477000" "00023423" "50" "1055" "0" "1055" "0" "c.1055G>A" "r.(?)" "p.(Arg352Gln)" "" "0000477001" "00023423" "50" "1219" "0" "1219" "0" "c.1219C>T" "r.(?)" "p.(Arg407Trp)" "" "0000477002" "00023423" "50" "1304" "0" "1304" "0" "c.1304G>A" "r.(?)" "p.(Arg435Gln)" "" "0000477003" "00023423" "50" "1546" "0" "1546" "0" "c.1546C>T" "r.(?)" "p.(Arg516Trp)" "" "0000477004" "00023423" "50" "1547" "0" "1547" "0" "c.1547G>A" "r.(?)" "p.(Arg516Gln)" "" "0000477005" "00023423" "90" "1782" "0" "1782" "0" "c.1782dup" "r.(?)" "p.(Arg595Alafs*38)" "" "0000477006" "00023423" "50" "1870" "0" "1870" "0" "c.1870C>T" "r.(?)" "p.(Arg624Trp)" "" "0000477007" "00023423" "50" "2032" "0" "2032" "0" "c.2032A>G" "r.(?)" "p.(Ile678Val)" "" "0000477008" "00023423" "50" "2047" "0" "2049" "0" "c.2047_2049del" "r.(?)" "p.(Glu683del)" "" "0000477579" "00023423" "50" "581" "0" "592" "0" "c.581_592del" "r.(?)" "p.(Val194_Val197del)" "" "0000544004" "00023423" "30" "30" "0" "30" "0" "c.30G>C" "r.(?)" "p.(Glu10Asp)" "" "0000544005" "00023423" "30" "52" "36" "52" "36" "c.52+36G>C" "r.(=)" "p.(=)" "" "0000544006" "00023423" "30" "126" "0" "126" "0" "c.126C>G" "r.(?)" "p.(Asp42Glu)" "" "0000544007" "00023423" "10" "581" "0" "592" "0" "c.581_592del" "r.(?)" "p.(Val194_Val197del)" "" "0000544008" "00023423" "10" "653" "-18" "653" "-18" "c.653-18C>T" "r.(=)" "p.(=)" "" "0000544009" "00023423" "50" "689" "0" "689" "0" "c.689A>G" "r.(?)" "p.(Glu230Gly)" "" "0000544010" "00023423" "30" "696" "0" "696" "0" "c.696G>A" "r.(?)" "p.(Met232Ile)" "" "0000544011" "00023423" "10" "903" "0" "903" "0" "c.903G>T" "r.(?)" "p.(Pro301=)" "" "0000544012" "00023423" "50" "1061" "0" "1061" "0" "c.1061G>A" "r.(?)" "p.(Arg354Gln)" "" "0000544013" "00023423" "50" "1114" "0" "1114" "0" "c.1114G>A" "r.(?)" "p.(Ala372Thr)" "" "0000544014" "00023423" "50" "1534" "0" "1534" "0" "c.1534C>T" "r.(?)" "p.(Arg512Cys)" "" "0000544015" "00023423" "30" "1644" "0" "1644" "0" "c.1644G>A" "r.(?)" "p.(Gly548=)" "" "0000544016" "00023423" "10" "2019" "0" "2019" "0" "c.2019T>G" "r.(?)" "p.(Val673=)" "" "0000544017" "00023423" "50" "2058" "0" "2058" "0" "c.2058T>G" "r.(?)" "p.(Phe686Leu)" "" "0000595653" "00023423" "90" "363" "0" "364" "0" "c.363_364del" "r.(?)" "p.(Ala122Leufs*2)" "3" "0000595654" "00023423" "90" "363" "0" "364" "0" "c.363_364del" "r.(?)" "p.(Ala122Leufs*2)" "3" "0000595655" "00023423" "90" "1621" "0" "1621" "0" "c.1621C>T" "r.(?)" "p.(Arg541Cys)" "" "0000595656" "00023423" "90" "1474" "0" "1474" "0" "c.1474G>A" "r.(?)" "p.(Gly492Arg)" "" "0000595657" "00023423" "90" "1747" "0" "1747" "0" "c.1747C>A" "r.(?)" "p.(Gln583Lys)" "" "0000595658" "00023423" "90" "1304" "0" "1304" "0" "c.1304G>A" "r.(?)" "p.(Arg435Gln)" "" "0000595660" "00023423" "90" "1304" "0" "1304" "0" "c.1304G>A" "r.(?)" "p.(Arg435Gln)" "" "0000595676" "00023423" "90" "1363" "0" "1363" "0" "c.1363C>T" "r.(?)" "p.(His455Tyr)" "5" "0000595679" "00023423" "90" "1363" "0" "1363" "0" "c.1363C>T" "r.(?)" "p.(His455Tyr)" "5" "0000595751" "00023423" "90" "1363" "0" "1363" "0" "c.1363C>T" "r.(?)" "p.(His455Tyr)" "5" "0000595752" "00023423" "90" "1363" "0" "1363" "0" "c.1363C>T" "r.(?)" "p.(His455Tyr)" "5" "0000595753" "00023423" "90" "377" "0" "377" "0" "c.377G>A" "r.(?)" "p.(Ser126Asn)" "" "0000595754" "00023423" "90" "377" "0" "377" "0" "c.377G>A" "r.(?)" "p.(Ser126Asn)" "" "0000595755" "00023423" "90" "653" "-1" "653" "-1" "c.653-1G>T" "r.spl" "p.?" "4i" "0000595756" "00023423" "90" "653" "-1" "653" "-1" "c.653-1G>T" "r.spl" "p.?" "4i" "0000595757" "00023423" "90" "653" "-1" "653" "-1" "c.653-1G>T" "r.spl" "p.?" "4i" "0000613348" "00023423" "30" "502" "0" "502" "0" "c.502C>T" "r.(?)" "p.(Leu168=)" "" "0000613349" "00023423" "30" "1889" "0" "1889" "0" "c.1889G>A" "r.(?)" "p.(Arg630Gln)" "" "0000613350" "00023423" "30" "2019" "0" "2019" "0" "c.2019T>G" "r.(?)" "p.(Val673=)" "" "0000629502" "00023423" "50" "1471" "0" "1471" "0" "c.1471A>G" "r.(?)" "p.(Thr491Ala)" "" "0000656795" "00023423" "50" "2024" "0" "2024" "0" "c.2024A>G" "r.(?)" "p.(Glu675Gly)" "" "0000679193" "00023423" "50" "1661" "0" "1661" "0" "c.1661C>T" "r.(?)" "p.(Pro554Leu)" "" "0000685570" "00023423" "70" "1174" "0" "1174" "0" "c.1174T>C" "r.(?)" "p.(Ser392Pro)" "" "0000685571" "00023423" "90" "1697" "0" "1697" "0" "c.1697T>A" "r.(?)" "p.(Leu566His)" "" "0000723455" "00023423" "30" "903" "0" "903" "0" "c.903G>T" "r.(?)" "p.(Pro301=)" "" "0000723456" "00023423" "30" "1890" "0" "1890" "0" "c.1890G>A" "r.(?)" "p.(Arg630=)" "" "0000729812" "00023423" "50" "553" "0" "564" "0" "c.553_564del" "r.(?)" "p.(Leu185_Glu188del)" "" "0000733123" "00023423" "70" "1363" "0" "1363" "0" "c.1363C>T" "r.(?)" "p.(His455Tyr)" "" "0000733124" "00023423" "70" "1352" "0" "1352" "0" "c.1352C>G" "r.(?)" "p.(Ser451Cys)" "" "0000733576" "00023423" "70" "1699" "0" "1699" "0" "c.1699C>T" "r.(?)" "p.(Arg567*)" "" "0000733577" "00023423" "70" "2137" "0" "2137" "0" "c.2137G>A" "r.(?)" "p.(Val713Met)" "" "0000735922" "00023423" "70" "1342" "0" "1342" "0" "c.1342C>T" "r.(?)" "p.(Arg448Cys)" "" "0000735978" "00023423" "70" "1572" "0" "1572" "0" "c.1572C>A" "r.(?)" "p.(Tyr524Ter)" "" "0000760022" "00023423" "50" "1342" "0" "1342" "0" "c.1342C>T" "r.(?)" "p.(Arg448Cys)" "" "0000760123" "00023423" "50" "130" "0" "130" "0" "c.130C>T" "r.(?)" "p.(Pro44Ser)" "2" "0000760124" "00023423" "90" "2145" "0" "2145" "0" "c.2145G>T" "r.(?)" "p.(Glu715Asp)" "5" "0000760126" "00023423" "50" "694" "0" "694" "0" "c.694A>G" "r.(?)" "p.(Met232Val)" "5" "0000785509" "00023423" "90" "443" "0" "443" "0" "c.443G>A" "r.(?)" "p.(Arg148Gln)" "" "0000795602" "00023423" "50" "892" "0" "892" "0" "c.892G>A" "r.(?)" "p.(Gly298Ser)" "5" "0000795604" "00023423" "50" "1988" "0" "1988" "0" "c.1988G>C" "r.(?)" "p.(Arg663Thr)" "5" "0000795605" "00023423" "70" "1989" "0" "1992" "0" "c.1989_1992del" "r.(?)" "p.(Glu664Argfs*36)" "5" "0000805129" "00023423" "50" "391" "0" "391" "0" "c.391A>C" "r.(?)" "p.(Ser131Arg)" "" "0000805130" "00023423" "30" "396" "0" "396" "0" "c.396G>A" "r.(?)" "p.(Leu132=)" "" "0000805131" "00023423" "30" "1093" "0" "1093" "0" "c.1093C>T" "r.(?)" "p.(Leu365=)" "" "0000805132" "00023423" "30" "1661" "0" "1661" "0" "c.1661C>T" "r.(?)" "p.(Pro554Leu)" "" "0000805133" "00023423" "30" "1755" "0" "1755" "0" "c.1755C>T" "r.(?)" "p.(Gly585=)" "" "0000805134" "00023423" "50" "2058" "0" "2058" "0" "c.2058T>G" "r.(?)" "p.(Phe686Leu)" "" "0000811789" "00023423" "70" "1107" "0" "1107" "0" "c.1107del" "r.(?)" "p.(Lys370SerfsTer118)" "" "0000811790" "00023423" "70" "2149" "0" "2149" "0" "c.2149G>A" "r.(?)" "p.(Glu717Lys)" "" "0000812080" "00023423" "70" "1621" "0" "1621" "0" "c.1621C>T" "r.(?)" "p.(Arg541Cys)" "5" "0000829989" "00023423" "50" "377" "0" "377" "0" "c.377G>A" "r.(?)" "p.(Ser126Asn)" "3" "0000852909" "00023423" "50" "1304" "0" "1304" "0" "c.1304G>A" "r.(?)" "p.(Arg435Gln)" "" "0000852910" "00023423" "50" "1411" "0" "1411" "0" "c.1411C>A" "r.(?)" "p.(Pro471Thr)" "" "0000862538" "00023423" "50" "333" "0" "333" "0" "c.333C>G" "r.(?)" "p.(Asn111Lys)" "" "0000871946" "00023423" "70" "1307" "0" "1307" "0" "c.1307C>T" "r.(?)" "p.(Pro436Leu)" "3" "0000889836" "00023423" "50" "1363" "0" "1363" "0" "c.1363C>T" "r.(?)" "p.(His455Tyr)" "" "0000889837" "00023423" "30" "1890" "0" "1890" "0" "c.1890G>A" "r.(?)" "p.(Arg630=)" "" "0000913582" "00023423" "50" "1139" "0" "1139" "0" "c.1139C>T" "r.(?)" "p.(Pro380Leu)" "" "0000949666" "00023423" "30" "276" "0" "276" "0" "c.276A>G" "r.(?)" "p.(=)" "" "0000949667" "00023423" "30" "726" "0" "726" "0" "c.726G>A" "r.(?)" "p.(=)" "" "0000966373" "00023423" "50" "1054" "0" "1054" "0" "c.1054C>T" "r.(?)" "p.(Arg352Trp)" "" "0000966374" "00023423" "30" "1644" "0" "1644" "0" "c.1644G>A" "r.(?)" "p.(Gly548=)" "" "0000999048" "00023423" "50" "1345" "0" "1345" "0" "c.1345C>T" "r.(?)" "p.(Arg449Trp)" "" "0001038466" "00023423" "50" "1304" "0" "1304" "0" "c.1304G>A" "r.(?)" "p.(Arg435Gln)" "" "0001046311" "00023423" "50" "1786" "0" "1786" "0" "c.1786C>T" "r.(?)" "p.(Arg596Cys)" "" "0001046312" "00023423" "50" "2058" "0" "2058" "0" "c.2058T>G" "r.(?)" "p.(Phe686Leu)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 57 "{{screeningid}}" "{{variantid}}" "0000234286" "0000476994" "0000234287" "0000476995" "0000234288" "0000476996" "0000234289" "0000476997" "0000234290" "0000476998" "0000234291" "0000476999" "0000234292" "0000477000" "0000234293" "0000477001" "0000234294" "0000477002" "0000234295" "0000477003" "0000234296" "0000477004" "0000234297" "0000477005" "0000234298" "0000477006" "0000234299" "0000477007" "0000234300" "0000477008" "0000234871" "0000477579" "0000265070" "0000595653" "0000265071" "0000595654" "0000265072" "0000595655" "0000265073" "0000595653" "0000265074" "0000595656" "0000265075" "0000595657" "0000265076" "0000595654" "0000265077" "0000595658" "0000265078" "0000595660" "0000265093" "0000595676" "0000265095" "0000595679" "0000265169" "0000595751" "0000265170" "0000595752" "0000265171" "0000595753" "0000265172" "0000595754" "0000265173" "0000595755" "0000265174" "0000595756" "0000265175" "0000595757" "0000275480" "0000629502" "0000310659" "0000685570" "0000310660" "0000685571" "0000332531" "0000729812" "0000335114" "0000733123" "0000335114" "0000733576" "0000335115" "0000733124" "0000335115" "0000733577" "0000336526" "0000735922" "0000336526" "0000735978" "0000360200" "0000760022" "0000360225" "0000760126" "0000360235" "0000760123" "0000360236" "0000760124" "0000374696" "0000785509" "0000381971" "0000795602" "0000381972" "0000795604" "0000381973" "0000795605" "0000384951" "0000811789" "0000384952" "0000811790" "0000385179" "0000812080" "0000397835" "0000829989" "0000414309" "0000871946"