### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = OTX2) # 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}}" "OTX2" "orthodenticle homeobox 2" "14" "q22.3" "unknown" "NG_008204.1" "UD_134408601921" "" "https://www.LOVD.nl/OTX2" "" "1" "8522" "5015" "600037" "1" "1" "1" "1" "This database is one of the \"Eye disease\" gene variant databases.\r\nEstablishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/OTX2_codingDNA.html" "1" "" "This database is one of the \"Eye disease\" gene variant databases." "-1" "" "-1" "00001" "2013-02-13 00:00:00" "00006" "2020-11-25 19:31:23" "00006" "2025-11-10 17:43:41" ## Transcripts ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00023889" "OTX2" "transcript variant 1" "003" "NM_021728.3" "" "NP_068374.1" "" "" "" "-284" "1922" "894" "57277194" "57267425" "00008" "2013-11-25 18:44:07" "" "" "00025707" "OTX2" "transcript variant 2" "006" "NM_172337.2" "" "NP_758840.1" "" "" "" "-207" "1898" "870" "57272381" "57267425" "00008" "2022-04-28 02:21:21" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 8 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00356" "MCOP" "anoophthalmia/microphthalmia" "" "" "" "" "" "00006" "2014-03-14 18:41:31" "00006" "2025-11-23 21:29:13" "01635" "AGOTC" "agnathia-otocephaly complex" "AD;AR" "202650" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02903" "MCOPS5" "microphthalmia, syndromic, type 5 (dystrophy, retinal, early onset)" "AD" "610125" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2023-12-23 15:02:48" "03507" "CPHD6" "hormone deficiency, pituitary, combined, type 6" "AD" "613986" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2023-12-23 15:03:30" "04210" "LCA" "Leber congenital amaurosis (LCA)" "" "" "" "" "" "00006" "2015-02-27 18:57:11" "" "" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "OTX2" "02903" "OTX2" "03507" ## Individuals ## Do not remove or alter this header ## ## Count = 73 "{{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}}" "00019839" "" "" "" "1" "" "00705" "{PMID:Gilissen 2014:24896178}" "" "?" "?" "" "" "0" "" "" "" "" "00036444" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036445" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037524" "" "" "" "1" "" "01239" "" "" "M" "no" "El Salvador" "" "0" "" "" "Hispanic" "" "00181105" "" "" "" "1" "" "02575" "" "" "M" "no" "" "" "0" "" "" "" "" "00314700" "" "" "" "1" "" "00006" "{PMID:Slavotinek 2015:25457163}" "" "F" "" "United States" "" "0" "" "" "" "" "00331740" "" "" "" "1" "" "00000" "{PMID:Sanchez-Navarro 2018:29588463}" "" "" "" "Spain" "" "0" "" "" "" "RP-1613" "00331741" "" "" "" "1" "" "00000" "{PMID:Sanchez-Navarro 2018:29588463}" "" "" "" "Spain" "" "0" "" "" "" "RP-2140" "00332099" "" "" "" "1" "" "00000" "{PMID:Patel 2017:29450879}" "patient" "" "no" "Saudi Arabia" "" "0" "" "" "" "F27‐M" "00332100" "" "" "" "1" "" "00000" "{PMID:Patel 2017:29450879}" "patient" "" "no" "Saudi Arabia" "" "0" "" "" "" "F28‐M" "00332204" "" "" "" "1" "" "00000" "{PMID:Bryant 2018:29343940}" "" "" "" "United States" "" "0" "" "" "" "JB275" "00333353" "" "" "" "1" "" "00000" "{PMID:Costa 2017:28912962}" "" "F" "" "Brazil" "" "0" "" "" "" "Pat9" "00358920" "" "" "" "1" "" "00000" "{PMID:Wang 2016:27422788}" "family, 1 affected, unaffected non-carrier parents" "" "" "China" "" "0" "" "" "Han" "Fam32" "00359204" "" "" "" "1" "" "00000" "{PMID:Ellingford 2016:27208204}" "familial segregation analysis requested" "" "" "" "" "0" "" "" "" "12010657" "00363368" "" "" "" "1" "" "00000" "{PMID:Sun 2015:26747767}" "proband" "" "" "China" "" "0" "" "" "" "HM307" "00363369" "" "" "" "1" "" "00000" "{PMID:Sun 2015:26747767}" "proband" "" "" "China" "" "0" "" "" "" "HM873" "00372443" "" "" "" "1" "" "00000" "{PMID:Wang 2015:26047050}" "index case" "" "" "China" "" "0" "" "" "" "132" "00377809" "" "" "" "1" "" "00000" "{PMID:Gonzalez Rodriguez 2010:20494911}" "" "" "" "Mexico" "" "0" "" "" "Mexican-mestizo" "" "00380103" "" "" "" "1" "" "00000" "{PMID:Kersten 2018:30215852}" "" "F" "" "" "" "0" "" "" "" "?" "00380995" "" "" "" "1" "" "00000" "{PMID:Schorderet-2013:23484092}" "" "" "" "Switzerland" "" "0" "" "" "Swiss, Algerian or Tunisian" "" "00381213" "" "" "" "1" "" "00008" "{PMID:Wang-2013:23847139}" "novel LOF mutations" "" "no" "" "" "0" "" "" "" "" "00384624" "" "" "" "1" "" "00000" "{PMID:Ehrenberg 2019:31814694}" "" "F" "no" "Israel" "" "0" "" "" "" "Family 2 patient 1" "00385165" "" "" "" "1" "" "00000" "{PMID:Jiman 2020:31836858}" "" "M" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "58" "00386892" "" "" "" "1" "" "00000" "{PMID:Zampaglione 2020:32037395}" "" "?" "" "" "" "0" "" "" "" "OGI2863_004448" "00390330" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "G000992" "00394323" "" "" "" "1" "" "00000" "{PMID:Thorsteinsson 2021:33851411}" "" "?" "" "Iceland" "" "0" "" "" "" "RP5" "00395589" "" "" "" "1" "" "00000" "{PMID:Perea-Romero 2021:34448047}" "" "" "" "Spain" "" "0" "" "" "" "RP-1691" "00408871" "" "" "" "1" "" "00000" "{PMID:Ragge-2005:15846561}" "" "M" "" "" "" "0" "" "" "" "1" "00408872" "" "" "" "1" "" "00000" "{PMID:Ragge-2005:15846561}" "" "M" "" "" "" "0" "" "" "" "2" "00408873" "" "" "" "1" "" "00000" "{PMID:Ragge-2005:15846561}" "" "F" "" "" "" "0" "" "" "" "3A" "00408874" "" "" "" "1" "" "00000" "{PMID:Ragge-2005:15846561}" "" "F" "" "" "" "0" "" "" "" "4A" "00408875" "" "" "" "1" "" "00000" "{PMID:Ragge-2005:15846561}" "" "M" "" "" "" "0" "" "" "" "4B" "00408876" "" "" "" "1" "" "00000" "{PMID:Ragge-2005:15846561}" "" "M" "" "" "" "0" "" "" "" "5" "00408877" "" "" "" "1" "" "00000" "{PMID:Ragge-2005:15846561}" "" "M" "" "" "" "0" "" "" "" "6" "00408878" "" "" "" "1" "" "00000" "{PMID:Ragge-2005:15846561}" "" "F" "" "" "" "0" "" "" "African" "7" "00408879" "" "" "" "1" "" "00000" "{PMID:Ragge-2005:15846561}" "" "M" "" "" "" "0" "" "" "" "8" "00408883" "" "" "" "1" "" "00000" "{PMID:Henderson-2007:17406642}" "" "F" "" "" "" "0" "" "" "" "" "00408884" "" "" "" "1" "" "00000" "{PMID:Dateki-2008:18628516}" "" "F" "no" "" "" "0" "" "" "Japanese" "" "00408886" "" "" "" "1" "" "00000" "{PMID:Wyatt-2008:18781617}" "" "F" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "2" "00408887" "" "" "" "1" "" "00000" "{PMID:Wyatt-2008:18781617}" "" "F" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "3" "00408888" "" "" "" "1" "" "00000" "{PMID:Wyatt-2008:18781617}" "" "M" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "4" "00408889" "" "" "" "1" "" "00000" "{PMID:Wyatt-2008:18781617}" "" "M" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "5" "00408890" "" "" "" "1" "" "00000" "{PMID:Wyatt-2008:18781617}" "" "M" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "6" "00408891" "" "" "" "1" "" "00000" "{PMID:Wyatt-2008:18781617}" "" "F" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "7" "00408892" "" "" "" "1" "" "00000" "{PMID:Wyatt-2008:18781617}" "" "M" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "8" "00408893" "" "" "" "1" "" "00000" "{PMID:Tajima-2009:18854396}" "" "M" "no" "" "" "0" "" "" "Japanese" "?" "00408894" "" "" "" "1" "" "00000" "{PMID:Henderson-2009:19956411}" "" "M" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "NH13424" "00408895" "" "" "" "1" "" "00000" "{PMID:Ashkenazi-Hoffnung-2010:20396904}" "The paternal side has several members with short stature and anophthalmia" "M" "no" "" "" "0" "" "" "Sephardic Jewish" "III-3" "00408896" "" "" "" "1" "" "00000" "{PMID:Schilter-2011:20486942}" "affected father carries mutation" "F" "" "" "" "0" "" "" "Caucasian" "Patient 1A" "00408897" "" "" "" "1" "" "00000" "{PMID:Schilter-2011:20486942}" "father of 1A" "M" "" "" "" "0" "" "" "Caucasian" "Patient 1B" "00408898" "" "" "" "1" "" "00000" "{PMID:Schilter-2011:20486942}" "feeding difficulties parents\' DNA normal" "F" "" "" "" "0" "" "" "Caucasian" "Patient 2" "00408899" "" "" "" "1" "" "00000" "{PMID:Schilter-2011:20486942}" "parents\' DNA normal" "M" "" "" "" "0" "" "" "Caucasian" "Patient 3" "00408900" "" "" "" "1" "" "00000" "{PMID:Schilter-2011:20486942}" "parents\' DNA normal" "F" "" "" "" "0" "" "" "Hispanic" "Patient 4" "00408906" "" "" "" "1" "" "00000" "{PMID:Vincent-2014:25293953}" "" "M" "" "" "" "0" "" "" "" "Fam1:II-9" "00408907" "" "" "" "1" "" "00000" "{PMID:Vincent-2014:25293953}" "" "M" "" "" "" "0" "" "" "" "Fam1:II-10" "00408908" "" "" "" "1" "" "00000" "{PMID:Vincent-2014:25293953}" "" "F" "" "" "" "0" "" "" "" "Fam1:III-1" "00408909" "" "" "" "1" "" "00000" "{PMID:Vincent-2014:25293953}" "" "F" "" "" "" "0" "" "" "" "Fam1:III-2" "00408910" "" "" "" "1" "" "00000" "{PMID:Vincent-2014:25293953}" "" "F" "" "" "" "0" "" "" "" "Fam1:III-3" "00408911" "" "" "" "1" "" "00000" "{PMID:Vincent-2014:25293953}" "" "M" "" "" "" "0" "" "" "" "Fam2:I-1" "00408912" "" "" "" "1" "" "00000" "{PMID:Vincent-2014:25293953}" "" "F" "" "" "" "0" "" "" "" "Fam2:II-1" "00408913" "" "" "" "1" "" "00000" "{PMID:Abdalla-Elsayed-2017:29204067}" "" "M" "" "" "" "0" "" "" "" "" "00415186" "" "" "" "1" "" "00000" "{PMID:Matias-Perez 2018:30181649}" "OTX2 family, proband\'s grandmother" "F" "" "" "" "0" "" "" "Mexican" "1\'s grandmother" "00415187" "" "" "" "1" "" "00000" "{PMID:Matias-Perez 2018:30181649}" "OTX2 family, proband\'s mother" "F" "" "" "" "0" "" "" "Mexican" "1\'s mother" "00415188" "" "" "" "1" "" "00000" "{PMID:Matias-Perez 2018:30181649}" "OTX2 family, proband" "M" "" "" "" "0" "" "" "Mexican" "1" "00429877" "" "" "" "1" "" "04436" "{PMID:Panneman 2023:36819107}" "" "F" "" "" "" "0" "" "" "" "" "00440407" "" "" "" "1" "" "00006" "{PMID:Nambot 2018:29095811}" "" "" "" "France" "" "0" "" "" "" "PED3716.1" "00444364" "" "" "" "1" "" "00006" "{PMID:Riera 2017:29178648}" "2-generation family, 1 affected, unaffected carrier mother" "F" "" "Spain" "" "0" "" "" "Arab" "FamMA_1" "00447323" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "M" "" "Germany" "" "0" "" "" "" "SRP-1277" "00468549" "" "" "" "1" "" "00006" "{PMID:Chassaing 2014:24033328}" "2-generation family, affected fetus, unaffected parents" "M" "" "France" "" "0" "" "" "" "Pat19" "00468550" "" "" "" "8" "" "00006" "{PMID:Chassaing 2007:17219395}, {PMID:Chassaing 2014:24033328}" "family, 8 affected" "" "" "France" "" "0" "" "" "" "FamCPat3;Pat20" "00468551" "" "" "" "1" "" "00006" "{PMID:Chassaing 2014:24033328}" "2-generation family, affected fetus, unaffected parents" "M" "" "France" "" "0" "" "" "" "Pat21" "00468552" "" "" "" "5" "" "00006" "{PMID:Chassaing 2014:24033328}" "4-generation family, affected female (2 affected fetuses), father, paternal grandmother" "F" "" "France" "" "0" "" "" "" "Pat22" "00468553" "" "" "" "17" "" "00006" "{PMID:Chassaing 2012:22577225}, {PMID:Chassaing 2014:24033328}" "5-generation family, 17 affected" "F;M" "" "France" "" "0" "" "" "" "FamAPatIV7;Pat23" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 72 "{{individualid}}" "{{diseaseid}}" "00019839" "00139" "00036445" "00198" "00037524" "02903" "00181105" "01635" "00314700" "00198" "00331740" "04214" "00331741" "04214" "00332099" "00356" "00332100" "00356" "00332204" "04214" "00333353" "04214" "00358920" "04214" "00359204" "04214" "00363368" "04214" "00363369" "04214" "00372443" "04214" "00377809" "04214" "00380103" "04214" "00380995" "04214" "00381213" "04214" "00384624" "00198" "00385165" "04214" "00386892" "04214" "00390330" "04214" "00394323" "04214" "00395589" "04214" "00408871" "04214" "00408872" "04214" "00408873" "04214" "00408874" "04214" "00408875" "04214" "00408876" "04214" "00408877" "04214" "00408878" "04214" "00408879" "04214" "00408883" "04214" "00408884" "04214" "00408886" "04214" "00408887" "04214" "00408888" "04214" "00408889" "04214" "00408890" "04214" "00408891" "04214" "00408892" "04214" "00408893" "04214" "00408894" "04214" "00408895" "04214" "00408896" "04214" "00408897" "04214" "00408898" "04214" "00408899" "04214" "00408900" "04214" "00408906" "04214" "00408907" "04214" "00408908" "04214" "00408909" "04214" "00408910" "04214" "00408911" "04214" "00408912" "04214" "00408913" "04214" "00415186" "04214" "00415187" "04214" "00415188" "04214" "00429877" "04210" "00440407" "00198" "00444364" "00198" "00447323" "00198" "00468549" "00356" "00468550" "00356" "00468551" "00356" "00468552" "00356" "00468553" "00356" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 00356, 01635, 02903, 03507, 04210, 04214 ## Count = 72 "{{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}}" "0000017579" "00139" "00019839" "00705" "Isolated (sporadic)" "?" "developmental delay, no major dysmorphisms, no ocular anomalies, no pituitary deficiency" "" "" "" "" "" "" "" "" "" "" "" "0000028044" "02903" "00037524" "01239" "Isolated (sporadic)" "05y" "Anophthalmia\r\nShort Stature\r\nIntellectual Disability\r\nCerebral Palsy\r\nCryptorchidism" "" "" "" "" "" "" "" "" "" "" "" "0000143351" "01635" "00181105" "02575" "Isolated (sporadic)" "" "Agnathia-otocephaly complex" "" "" "" "" "" "" "" "" "" "" "" "0000156532" "00198" "00036445" "01164" "Unknown" "" "Mikrophthalmie, Balkenmangel," "" "" "" "" "" "" "" "" "" "microphthalmy" "" "0000238502" "00198" "00314700" "00006" "Isolated (sporadic)" "" "bilateral anophthalmia, growth delays, intellectual disability, autism" "" "" "" "" "" "" "" "" "" "developmental eye defects" "" "0000249932" "04214" "00331740" "00000" "Isolated (sporadic)" "" "Leber congenital amaurosis, congenital nystagmus, psychomotor delay, compulsive eating, muscular hypotonia, obesity, hypogonadism" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, neuroendocrine alteration" "" "0000249933" "04214" "00331741" "00000" "Isolated (sporadic)" "" "congenital nystagmus, early-onset cone-rod dystrophy, developmental delay, panhypopituitarism" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, neuroendocrine alteration" "" "0000250290" "00356" "00332099" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "non‐syndromic microphthalmia" "" "0000250291" "00356" "00332100" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "syndromic microphthalmia" "" "0000250391" "04214" "00332204" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis, retinal degeneration" "" "0000251540" "04214" "00333353" "00000" "Familial, autosomal dominant" "27y" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000254180" "04214" "00358920" "00000" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000254501" "04214" "00359204" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa or rod-cone dystrophy" "" "0000258733" "04214" "00363368" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "early onset high myopia" "" "0000258734" "04214" "00363369" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "early onset high myopia" "" "0000267758" "04214" "00372443" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000272955" "04214" "00377809" "00000" "Familial" "" "Bilateral microphthalmia None" "" "" "" "" "" "" "" "" "" "microphthalmia anophthalmia coloboma (MAC)" "" "0000273957" "04214" "00380103" "00000" "Unknown" "84y" "Extensive large soft drusen and calcified drusen throughout the macula and reticular pseudodrusen around the retinal arcades" "" "" "" "" "" "" "" "" "" "age-related macular degeneration" "" "0000274846" "04214" "00380995" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa (RP)" "" "0000275064" "04214" "00381213" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000278414" "00198" "00384624" "00000" "Unknown" "" "Retinitis pigmentosa (AR) and hemifacial microsomia (AD)" "" "" "" "" "" "" "" "" "Mixed" "Syndromic retinitis pigmentosa" "" "0000278961" "04214" "00385165" "00000" "Familial, autosomal dominant" "22y8m" "HP:0001250 Seizures; HP:0000545 Myopia; HP:0000510 Rod-cone dystrophy; HP:0000662 Nyctalopia; HP:0007663 Reduced visual acuity; HP:0000518 Cataract; HP:0000639 Nystagmus" "" "" "" "" "" "" "" "" "" "Syndromic microphthalmia type 5 (AD)" "" "0000280692" "04214" "00386892" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000283868" "04214" "00390330" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000287527" "04214" "00394323" "00000" "Familial, autosomal dominant" "" "Late-onset RP, slowly progressing, ERG consistent with RP" "30y" "" "" "" "" "" "" "" "retinits pigmentosa" "" "" "0000288787" "04214" "00395589" "00000" "Familial, autosomal dominant" "" "congenital blindness, hypermetropia, nystagmus, atresia of the external auditory canal, microtia, third degree, poor motor coordination, unsteady gait, central hypotonia, abnormality of mandibular ramus" "" "" "" "" "" "" "" "" "Leber congenital amaurosis, congenital malformation" "" "" "0000300989" "04214" "00408871" "00000" "Unknown" "4y" "Vision: none, severe learning disability; Delayed speech, few words; left retinal detach- ment" "" "" "" "" "" "" "" "" "" "bilateral anophthalmia" "" "0000300990" "04214" "00408872" "00000" "Unknown" "6y" "Vision: none, cataracts: bilateral tunica vasculosa lentis, clear lenses neonatally ; Mother had pre- vious stillbirth at 38 wk ges- tation" "" "" "" "" "" "" "" "" "" "bilateral optic-nerve aplasia and microphthalmia" "" "0000300991" "04214" "00408873" "00000" "Unknown" "12y11m" "Vision: none; Mother had ter- mination of pregnancy for brain malfor- mation and microphthal- mia; affected fetus (patient 3Bc) carried the c.252delC mutation" "" "" "" "" "" "" "" "" "" "severe bilateral microphthalmia" "" "0000300992" "04214" "00408874" "00000" "Unknown" "33y" "Vision: none, L: cataract, later onset, severe learning disability; Delayed speech, few words, later lost" "" "" "" "" "" "" "" "" "" "microphthalmia and severe developmental delay" "" "0000300993" "04214" "00408875" "00000" "Unknown" "25y" "Vision: 6/60, mild learning disability; Nystagmus , anterior com- missure thin; colliculi pre- sent, delayed speech and motor devel- opment" "" "" "" "" "" "" "" "" "" "leber congenital amaurosis (LCA)" "" "0000300994" "04214" "00408876" "00000" "Complex" "24y" "Vision: none, WAIS: VIQ 91" "" "" "" "" "" "" "" "" "" "bilateral anophthalmia" "" "0000300995" "04214" "00408877" "00000" "Complex" "11y1m" "Vision: none, severe learning disability; Bilateral retinal detachment, posterior vitre- ous opacities; unaffected brother has P133T muta- tion" "" "" "" "" "" "" "" "" "" "bilateral anophthalmia" "" "0000300996" "04214" "00408878" "00000" "Complex" "4y" "Vision: none, R: phthisical after postcataract extraction" "" "" "" "" "" "" "" "" "" "bilateral microphthalmia and left sclerocornea" "" "0000300997" "04214" "00408879" "00000" "Unknown" "9y" "Vision: R: 6/9.5, cataracts, attention-deficit/hyperactivity; Brachycephaly, dysplastic ears" "" "" "" "" "" "" "" "" "" "unilateral anophthalmia" "" "0000301001" "04214" "00408883" "00000" "Unknown" "" "" "0d" "" "microcephalia, microphthalmic right eye and a fixed dilated left pupil" "" "" "" "" "" "" "aniridia, microphthalmia, microcephaly and cafe´ au lait macules" "" "0000301002" "04214" "00408884" "00000" "Unknown" "3y9m" "congenital bilateral anophthalmia and received cosmetic repair with artificial eyes at 15 d of age. She also had cleft palate that was surgically repaired at 1 yr 7 months of age." "" "" "" "" "" "" "" "" "" "anophthalmia, short stature and partial growth hormone deficiency" "" "0000301004" "04214" "00408886" "00000" "Unknown" "3y" "Anophthalmia" "" "" "" "" "" "" "" "" "" "Congenital anophthalmia and microphthalmia (AM)" "" "0000301005" "04214" "00408887" "00000" "Unknown" "13y" "RE: nystagmus LE: microphthalmia" "" "" "" "" "" "" "" "" "" "Congenital anophthalmia and microphthalmia (AM)" "" "0000301006" "04214" "00408888" "00000" "Unknown" "3y3m" "RE: microphthalmia" "" "" "" "" "" "" "" "" "" "Congenital anophthalmia and microphthalmia (AM)" "" "0000301007" "04214" "00408889" "00000" "Unknown" "3m" "RE: Anophthalmia, LE: coloboma" "" "" "" "" "" "" "" "" "" "Congenital anophthalmia and microphthalmia (AM)" "" "0000301008" "04214" "00408890" "00000" "Unknown" "1y11m" "Extreme Microphthalmia" "" "" "" "" "" "" "" "" "" "Congenital anophthalmia and microphthalmia (AM)" "" "0000301009" "04214" "00408891" "00000" "Unknown" "1y11m" "RE: inferior iris coloboma, LE: retinal coloboma" "" "" "" "" "" "" "" "" "" "Congenital anophthalmia and microphthalmia (AM)" "" "0000301010" "04214" "00408892" "00000" "Unknown" "1y6m" "Anophthalmia" "" "" "" "" "" "" "" "" "" "Congenital anophthalmia and microphthalmia (AM)" "" "0000301011" "04214" "00408893" "00000" "Unknown" "4y" "Bilateral anophthalmia; Severe short stature, severe developmental delay; Hypoplastic anterior pituitary, ectopic posterior, absence of optic nerve and chiasm, Chiari malformation" "" "" "" "" "" "" "" "" "" "Anophthalmia and combined pituitary hormone deficiency (CPHD)" "" "0000301012" "04214" "00408894" "00000" "Unknown" "7y" "" "" "" "" "" "" "" "" "" "" "early onset retinal dystrophy and pituitary insufficiency" "" "0000301013" "04214" "00408895" "00000" "Familial, autosomal dominant" "5y9m" "Hypoplastic adenopituitary, interrupted stalk, ectopic neurohypophysis; Learning difficulties" "" "" "" "" "" "" "" "" "" "Unilateral anophthalmia and isolated growth hormone deficiency (IGHD)" "" "0000301014" "04214" "00408896" "00000" "Unknown" "2y1m" "bilateral optic nerve hypoplasia/aplaisa, microcephaly, anteriorly placed anus, sacral dimple" "" "" "" "" "" "" "" "" "" "bilateral microphthalmia" "" "0000301015" "04214" "00408897" "00000" "Unknown" "" "LE: optic nerve hypoplasia/aplaisa, LE: anterior segment dysgenesis, cataract, (iris pseudocoloboma and posterior synechiae), lack of vascularization in the retinal periphery and absent papilla of the left eye" "" "" "" "" "" "" "" "" "" "LE: microphthalmia" "" "0000301016" "04214" "00408898" "00000" "Unknown" "5y6m" "bilateral optic nerve hypoplasia/aplaisa, developmental delay/mental retardation, wolf-parkinson white syndrome" "" "" "" "" "" "" "" "" "" "bilateral clinical anophthalmia" "" "0000301017" "04214" "00408899" "00000" "Unknown" "1y8m" "bilateral optic nerve hypoplasia/aplaisa, abnormal pituitary structure, short stature, developmental delay/mental retardation, microcephaly, feeding difficulties" "" "" "" "" "" "" "" "" "" "right clinical anophthalmia and left microphthalmia" "" "0000301018" "04214" "00408900" "00000" "Unknown" "4y6m" "bilateral optic nerve hypoplasia/aplaisa, abnormal pituitary structure, short stature, developmental delay/mental retardation, microcephaly, hypotonia, hypoplastic labia minora" "" "" "" "" "" "" "" "" "" "bilateral microphthalmia" "" "0000301024" "04214" "00408906" "00000" "Familial, autosomal dominant" "46y" "BCVA: RE:20/40 LE:20/25" "" "" "" "" "" "" "" "" "" "autosomaldominant pattern dystrophy (PD) of the retinal pigment epithelium (RPE)" "" "0000301025" "04214" "00408907" "00000" "Familial, autosomal dominant" "46y" "BCVA: RE:20/30 LE:CFat2m" "" "" "" "" "" "" "" "" "" "autosomaldominant pattern dystrophy (PD) of the retinal pigment epithelium (RPE)" "" "0000301026" "04214" "00408908" "00000" "Familial, autosomal dominant" "13y" "BCVA: RE:20/20 LE:20/30" "" "" "" "" "" "" "" "" "" "autosomaldominant pattern dystrophy (PD) of the retinal pigment epithelium (RPE)" "" "0000301027" "04214" "00408909" "00000" "Familial, autosomal dominant" "10y" "BCVA: RE:20/30 LE:20/30" "" "" "" "" "" "" "" "" "" "autosomaldominant pattern dystrophy (PD) of the retinal pigment epithelium (RPE)" "" "0000301028" "04214" "00408910" "00000" "Familial, autosomal dominant" "13y" "BCVA: RE:20/30 LE:20/40" "" "" "" "" "" "" "" "" "" "autosomaldominant pattern dystrophy (PD) of the retinal pigment epithelium (RPE)" "" "0000301029" "04214" "00408911" "00000" "Familial, autosomal dominant" "39y" "BCVA: RE:20/80 LE:20/200" "" "" "" "" "" "" "" "" "" "autosomaldominant pattern dystrophy (PD)" "" "0000301030" "04214" "00408912" "00000" "Familial, autosomal dominant" "8y" "BCVA: RE:20/60 LE:20/100" "" "" "" "" "" "" "" "" "" "autosomaldominant pattern dystrophy (PD)" "" "0000301031" "04214" "00408913" "00000" "Unknown" "12y" "bilateral microphthalmos and a slim prepubertal appearance" "" "" "progressively poor vision since birth, nyctalopia, and early-onset retinal dystrophy with atypical maculopathy" "" "" "" "" "" "" "early-onset retinal dystrophy with atypical maculopathy" "" "0000306984" "04214" "00415186" "00000" "Familial, autosomal dominant" "" "microphthalmia right eye" "" "" "" "" "" "" "" "" "microphthalmia and anophthalmia" "" "" "0000306985" "04214" "00415187" "00000" "Familial, autosomal dominant" "" "microphthalmia right eye" "" "" "" "" "" "" "" "" "microphthalmia and anophthalmia" "" "" "0000306986" "04214" "00415188" "00000" "Familial, autosomal dominant" "7y" "microphthalmia right eye; anophthalmia left eye" "" "" "" "" "" "" "" "" "microphthalmia and anophthalmia" "" "" "0000320749" "04210" "00429877" "04436" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000330317" "00198" "00440407" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "Microphthalmia syndromic 5 (MIM #610125)" "" "" "0000333617" "00198" "00444364" "00006" "Unknown" "01y" "see paper; ..., bilateral anophthalmia; complete absence ocular globes; MRI absent optic nerve, absent chiasm, extraocular muscles present; no light perception" "" "" "" "" "" "" "" "" "MCOPS5" "anophthalmia" "" "0000336522" "00198" "00447323" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, simplex" "" "0000353702" "00356" "00468549" "00006" "Unknown" "<0d" "33wg-fetus; anophthalmia; MRI brain ventriculomegaly, Vermian heterotopia, cortical dysplasia;" "" "" "" "" "" "" "" "" "MCOPS5" "anophthalmia/microphthalmia" "" "0000353703" "00356" "00468550" "00006" "Familial, autosomal dominant" "24y" "microphthalmia, coloboma; MRI brain normal; intellectual disability;" "" "" "" "" "" "" "" "" "MCOPS5" "anophthalmia/microphthalmia" "" "0000353704" "00356" "00468551" "00006" "Unknown" "<0d" "23wg-fetus; anophthalmia; MRI brain normal;" "" "" "" "" "" "" "" "" "MCOPS5" "anophthalmia/microphthalmia" "" "0000353705" "00356" "00468552" "00006" "Familial, autosomal dominant" "31y" "anophthalmia; MRI brain normal; no intellectual disability; male fetus otocephaly-dysgnathia complex;" "" "" "" "" "" "" "" "" "MCOPS5" "anophthalmia/microphthalmia" "" "0000353706" "00356" "00468553" "00006" "Familial, autosomal dominant" "22y" "anophthalmia; MRI brain normal; intellectual disability; family history includes otocephaly;" "" "" "" "" "" "" "" "" "MCOPS5" "anophthalmia/microphthalmia" "" ## Screenings ## Do not remove or alter this header ## ## Count = 73 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000019831" "00019839" "1" "00705" "00705" "2014-09-02 12:52:00" "00006" "2014-11-07 19:58:20" "SEQ" "DNA" "" "" "0000036514" "00036444" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036515" "00036445" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037618" "00037524" "1" "01239" "01239" "2015-04-08 17:38:12" "" "" "PCR" "DNA" "" "" "0000182062" "00181105" "1" "02575" "02575" "2018-09-28 13:27:38" "" "" "SEQ-NG" "DNA" "" "" "0000315873" "00314700" "1" "00006" "00006" "2020-10-14 10:44:55" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000332959" "00331740" "1" "00000" "00006" "2021-02-13 09:57:26" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000332960" "00331741" "1" "00000" "00006" "2021-02-13 09:57:26" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000333319" "00332099" "1" "00000" "00006" "2021-02-15 09:08:25" "" "" "SEQ-NG" "DNA" "" "" "0000333320" "00332100" "1" "00000" "00006" "2021-02-15 09:08:25" "" "" "SEQ-NG" "DNA" "" "" "0000333424" "00332204" "1" "00000" "00006" "2021-02-15 18:54:26" "" "" "SEQ-NG" "DNA" "" "WES" "0000334578" "00333353" "1" "00000" "00006" "2021-02-25 10:13:46" "" "" "SEQ-NG" "DNA" "" "132-gene panel" "0000360153" "00358920" "1" "00000" "00006" "2021-03-17 09:43:06" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000360442" "00359204" "1" "00000" "00006" "2021-03-18 16:44:20" "" "" "SEQ" "DNA" "" "105-gene panel" "0000364596" "00363368" "1" "00000" "00006" "2021-04-26 18:22:04" "" "" "SEQ-NG" "DNA" "" "WES" "0000364597" "00363369" "1" "00000" "00006" "2021-04-26 18:22:04" "" "" "SEQ-NG" "DNA" "" "WES" "0000373676" "00372443" "1" "00000" "00006" "2021-05-08 09:43:10" "" "" "SEQ-NG" "DNA" "" "163-gene panel" "0000379013" "00377809" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "SEQ" "DNA" "Blood" "" "0000381304" "00380103" "1" "00000" "03840" "2021-08-10 09:32:07" "" "" "SEQ-NG" "DNA" "" "Whole-exome sequencing" "0000382209" "00380995" "1" "00000" "00008" "2021-08-25 12:56:54" "" "" "SEQ-NG;SEQp" "DNA" "blood" "targeted exon capture/IROme assay" "0000382428" "00381213" "1" "00009" "00008" "2021-08-27 03:00:16" "" "" "SEQ-NG" "DNA" "blood" "" "0000385852" "00384624" "1" "00000" "03840" "2021-10-04 12:47:36" "" "" "arraySNP;SEQ" "DNA" "blood" "" "0000386394" "00385165" "1" "00000" "03840" "2021-10-08 17:29:22" "" "" "SEQ-NG-I" "DNA" "" "176 genes panel" "0000388120" "00386892" "1" "00000" "03840" "2021-10-26 11:33:19" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "" "0000391571" "00390330" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing" "0000395570" "00394323" "1" "00000" "03840" "2021-12-01 10:17:04" "" "" "SEQ-NG" "DNA" "" "retrospective analysis" "0000396827" "00395589" "1" "00000" "03840" "2021-12-08 14:12:08" "" "" "?" "DNA" "" "clinical exome sequencing" "0000410136" "00408871" "1" "00000" "00008" "2022-04-29 01:04:01" "" "" "SEQ;PCR" "DNA" "blood and buccal cell lysates" "" "0000410137" "00408872" "1" "00000" "00008" "2022-04-29 01:04:01" "" "" "SEQ;PCR" "DNA" "blood and buccal cell lysates" "" "0000410138" "00408873" "1" "00000" "00008" "2022-04-29 01:04:01" "" "" "SEQ;PCR" "DNA" "blood and buccal cell lysates" "" "0000410139" "00408874" "1" "00000" "00008" "2022-04-29 01:04:01" "" "" "SEQ;PCR" "DNA" "blood and buccal cell lysates" "" "0000410140" "00408875" "1" "00000" "00008" "2022-04-29 01:04:01" "" "" "SEQ;PCR" "DNA" "blood and buccal cell lysates" "" "0000410141" "00408876" "1" "00000" "00008" "2022-04-29 01:04:01" "" "" "SEQ;PCR" "DNA" "blood and buccal cell lysates" "" "0000410142" "00408877" "1" "00000" "00008" "2022-04-29 01:04:01" "" "" "SEQ;PCR" "DNA" "blood and buccal cell lysates" "" "0000410143" "00408878" "1" "00000" "00008" "2022-04-29 01:04:01" "" "" "SEQ;PCR" "DNA" "blood and buccal cell lysates" "" "0000410144" "00408879" "1" "00000" "00008" "2022-04-29 01:04:01" "" "" "SEQ;PCR" "DNA" "blood and buccal cell lysates" "" "0000410148" "00408883" "1" "00000" "00008" "2022-04-29 01:04:01" "" "" "DHPLC;SEQ" "DNA" "" "" "0000410149" "00408884" "1" "00000" "00008" "2022-04-29 01:04:01" "" "" "MLPA;FISH;arrayCGH" "DNA" "" "" "0000410151" "00408886" "1" "00000" "00008" "2022-04-29 01:04:01" "" "" "MLPA;FISH;arrayCGH" "DNA" "" "" "0000410152" "00408887" "1" "00000" "00008" "2022-04-29 01:04:01" "" "" "MLPA;FISH;arrayCGH" "DNA" "" "" "0000410153" "00408888" "1" "00000" "00008" "2022-04-29 01:04:01" "" "" "MLPA;FISH;arrayCGH" "DNA" "" "" "0000410154" "00408889" "1" "00000" "00008" "2022-04-29 01:04:01" "" "" "MLPA;FISH;arrayCGH" "DNA" "" "" "0000410155" "00408890" "1" "00000" "00008" "2022-04-29 01:04:01" "" "" "MLPA;FISH;arrayCGH" "DNA" "" "" "0000410156" "00408891" "1" "00000" "00008" "2022-04-29 01:04:01" "" "" "MLPA;FISH;arrayCGH" "DNA" "" "" "0000410157" "00408892" "1" "00000" "00008" "2022-04-29 01:04:01" "" "" "MLPA;FISH;arrayCGH" "DNA" "" "" "0000410158" "00408893" "1" "00000" "00008" "2022-04-29 01:04:01" "" "" "SEQ;PCR" "DNA" "Functional analysis" "" "0000410159" "00408894" "1" "00000" "00008" "2022-04-29 01:04:01" "" "" "SEQ;PCR;arraySNP" "DNA" "LCA chip" "" "0000410160" "00408895" "1" "00000" "00008" "2022-04-29 01:04:01" "" "" "SEQ;PCR;Western" "DNA" "" "" "0000410161" "00408896" "1" "00000" "00008" "2022-04-29 01:04:01" "" "" "SEQ" "DNA" "" "" "0000410162" "00408897" "1" "00000" "00008" "2022-04-29 01:04:01" "" "" "SEQ" "DNA" "" "" "0000410163" "00408898" "1" "00000" "00008" "2022-04-29 01:04:01" "" "" "SEQ" "DNA" "" "" "0000410164" "00408899" "1" "00000" "00008" "2022-04-29 01:04:01" "" "" "SEQ" "DNA" "" "" "0000410165" "00408900" "1" "00000" "00008" "2022-04-29 01:04:01" "" "" "SEQ" "DNA" "" "" "0000410171" "00408906" "1" "00000" "00008" "2022-04-29 01:04:01" "" "" "SEQ;SEQ-NG" "DNA" "blood" "Exome sequencing" "0000410172" "00408907" "1" "00000" "00008" "2022-04-29 01:04:01" "" "" "SEQ;SEQ-NG" "DNA" "blood" "Exome sequencing" "0000410173" "00408908" "1" "00000" "00008" "2022-04-29 01:04:01" "" "" "SEQ;SEQ-NG" "DNA" "blood" "Exome sequencing" "0000410174" "00408909" "1" "00000" "00008" "2022-04-29 01:04:01" "" "" "SEQ;SEQ-NG" "DNA" "blood" "Exome sequencing" "0000410175" "00408910" "1" "00000" "00008" "2022-04-29 01:04:01" "" "" "SEQ;SEQ-NG" "DNA" "blood" "Exome sequencing" "0000410176" "00408911" "1" "00000" "00008" "2022-04-29 01:04:01" "" "" "SEQ;SEQ-NG" "DNA" "blood" "Exome sequencing" "0000410177" "00408912" "1" "00000" "00008" "2022-04-29 01:04:01" "" "" "SEQ;SEQ-NG" "DNA" "blood" "Exome sequencing" "0000410178" "00408913" "1" "00000" "00008" "2022-04-29 01:04:01" "" "" "SEQ;SEQ-NG" "DNA" "EDTA blood" "panel of retinal dystrophy genes" "0000416468" "00415186" "1" "00000" "03840" "2022-08-09 21:02:14" "" "" "SEQ-NG;SEQ" "DNA" "blood" "" "0000416469" "00415187" "1" "00000" "03840" "2022-08-09 21:02:14" "" "" "SEQ-NG;SEQ" "DNA" "blood" "" "0000416470" "00415188" "1" "00000" "03840" "2022-08-09 21:02:14" "" "" "SEQ-NG;SEQ" "DNA" "blood" "" "0000431290" "00429877" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing" "0000441892" "00440407" "1" "00006" "00006" "2023-11-02 14:36:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000445932" "00444364" "1" "00006" "00006" "2023-12-23 15:06:24" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000448900" "00447323" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS" "0000470216" "00468549" "1" "00006" "00006" "2025-11-10 17:03:53" "00006" "2025-11-10 17:35:30" "arrayCGH" "DNA" "" "gene panel" "0000470217" "00468550" "1" "00006" "00006" "2025-11-10 17:03:53" "00006" "2025-11-10 17:40:10" "arrayCGH" "DNA" "" "" "0000470218" "00468551" "1" "00006" "00006" "2025-11-10 17:03:53" "" "" "PCRq;SEQ" "DNA" "" "gene panel" "0000470219" "00468552" "1" "00006" "00006" "2025-11-10 17:03:53" "" "" "PCRq;SEQ" "DNA" "" "gene panel" "0000470220" "00468553" "1" "00006" "00006" "2025-11-10 17:03:53" "" "" "PCRq;SEQ" "DNA" "" "gene panel" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 69 "{{screeningid}}" "{{geneid}}" "0000019831" "OSBPL9" "0000019831" "OTX2" "0000019831" "TBR1" "0000019831" "YTHDC1" "0000036514" "OTX2" "0000036515" "OTX2" "0000037618" "OTX2" "0000182062" "OTX2" "0000315873" "OTX2" "0000332959" "OTX2" "0000332960" "OTX2" "0000333319" "OTX2" "0000333320" "OTX2" "0000334578" "ROM1" "0000360153" "OTX2" "0000364596" "OTX2" "0000364597" "OTX2" "0000373676" "OTX2" "0000379013" "OTX2" "0000382209" "PDE6B" "0000382428" "OTX2" "0000385852" "RDH12" "0000386394" "OTX2" "0000388120" "OTX2" "0000391571" "OTX2" "0000395570" "OTX2" "0000396827" "OTX2" "0000410136" "OTX2" "0000410137" "OTX2" "0000410138" "OTX2" "0000410139" "OTX2" "0000410140" "OTX2" "0000410141" "OTX2" "0000410142" "OTX2" "0000410143" "OTX2" "0000410144" "OTX2" "0000410148" "NF1" "0000410148" "OTX2" "0000410148" "PAX6" "0000410149" "OTX2" "0000410151" "OTX2" "0000410152" "OTX2" "0000410153" "OTX2" "0000410154" "OTX2" "0000410155" "OTX2" "0000410156" "OTX2" "0000410157" "OTX2" "0000410158" "OTX2" "0000410159" "OTX2" "0000410160" "HESX1" "0000410160" "OTX2" "0000410160" "SOX2" "0000410161" "OTX2" "0000410162" "OTX2" "0000410163" "OTX2" "0000410164" "OTX2" "0000410165" "OTX2" "0000410171" "OTX2" "0000410172" "OTX2" "0000410173" "OTX2" "0000410174" "OTX2" "0000410175" "OTX2" "0000410176" "OTX2" "0000410177" "OTX2" "0000410178" "OTX2" "0000416468" "OTX2" "0000416469" "OTX2" "0000416470" "OTX2" "0000431290" "OTX2" ## 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 = 103 "{{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}}" "0000040283" "0" "70" "14" "57268586" "57268586" "subst" "0" "00705" "OTX2_000060" "g.57268586G>T" "" "{PMID:Gilissen 2014:24896178}" "" "" "seems not associated with ID phenotype" "De novo" "no" "" "0" "" "" "g.56801868G>T" "" "likely pathogenic" "" "0000063639" "1" "10" "14" "57271127" "57271127" "subst" "0.347265" "01164" "OTX2_000010" "g.57271127G>T" "" "" "" "" "" "Germline" "" "rs2277499" "0" "" "" "g.56804409G>T" "" "benign" "" "0000063640" "1" "50" "14" "57268113" "57268113" "del" "0" "01164" "OTX2_000063" "g.57268113del" "" "" "" "" "" "Germline" "" "rs3215889" "0" "" "" "g.56801395del" "" "VUS" "" "0000064766" "0" "90" "14" "57268673" "57268673" "del" "0" "01239" "OTX2_000061" "g.57268673del" "" "" "" "NM_001270523.1:c.651del" "" "Unknown" "" "" "0" "" "" "g.56801955del" "" "pathogenic" "" "0000247288" "0" "50" "14" "57268853" "57268853" "subst" "4.0623E-6" "02330" "OTX2_000067" "g.57268853A>T" "" "" "" "OTX2(NM_001270524.1):c.470T>A (p.I157N), OTX2(NM_001270524.2):c.470T>A (p.I157N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56802135A>T" "" "VUS" "" "0000293410" "0" "50" "14" "57271079" "57271079" "subst" "8.16686E-6" "02330" "OTX2_000072" "g.57271079G>A" "" "" "" "OTX2(NM_021728.4):c.100C>T (p.P34S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56804361G>A" "" "VUS" "" "0000293411" "0" "50" "14" "57271054" "57271054" "subst" "1.22043E-5" "02330" "OTX2_000071" "g.57271054G>T" "" "" "" "OTX2(NM_001270524.2):c.101C>A (p.T34N), OTX2(NM_021728.4):c.125C>A (p.(Thr42Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56804336G>T" "" "VUS" "" "0000293412" "0" "70" "14" "57270920" "57270920" "subst" "0" "02330" "OTX2_000070" "g.57270920C>T" "" "" "" "OTX2(NM_001270524.2):c.235G>A (p.E79K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56804202C>T" "" "likely pathogenic" "" "0000293413" "0" "10" "14" "57268903" "57268903" "subst" "0.000357442" "02330" "OTX2_000069" "g.57268903C>G" "" "" "" "OTX2(NM_001270524.1):c.420G>C (p.P140=), OTX2(NM_001270524.2):c.420G>C (p.P140=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56802185C>G" "" "benign" "" "0000293414" "0" "50" "14" "57268899" "57268899" "subst" "0" "02330" "OTX2_000068" "g.57268899T>C" "" "" "" "OTX2(NM_001270524.2):c.424A>G (p.I142V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56802181T>C" "" "VUS" "" "0000293415" "0" "10" "14" "57268684" "57268684" "subst" "0.000304564" "02330" "OTX2_000066" "g.57268684G>A" "" "" "" "OTX2(NM_001270524.1):c.639C>T (p.P213=), OTX2(NM_001270524.2):c.639C>T (p.P213=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56801966G>A" "" "benign" "" "0000293416" "0" "10" "14" "57272066" "57272066" "subst" "0.010174" "02330" "OTX2_000073" "g.57272066G>A" "" "" "" "OTX2(NM_001270524.2):c.97+12C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56805348G>A" "" "benign" "" "0000304891" "0" "30" "14" "57268684" "57268684" "subst" "0.000304564" "01943" "OTX2_000066" "g.57268684G>A" "" "" "" "OTX2(NM_001270524.1):c.639C>T (p.P213=), OTX2(NM_001270524.2):c.639C>T (p.P213=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56801966G>A" "" "likely benign" "" "0000304892" "0" "50" "14" "57268604" "57268604" "subst" "6.4972E-5" "01943" "OTX2_000065" "g.57268604G>A" "" "" "" "OTX2(NM_001270524.1):c.719C>T (p.T240I), OTX2(NM_021728.4):c.743C>T (p.(Thr248Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56801886G>A" "" "VUS" "" "0000304893" "0" "30" "14" "57268516" "57268516" "subst" "0.000385762" "01943" "OTX2_000064" "g.57268516G>A" "" "" "" "OTX2(NM_001270524.1):c.807C>T (p.N269=), OTX2(NM_001270524.2):c.807C>T (p.N269=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56801798G>A" "" "likely benign" "" "0000349552" "0" "50" "14" "57271024" "57271024" "subst" "0" "02327" "OTX2_000074" "g.57271024G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56804306G>T" "" "VUS" "" "0000405879" "0" "90" "14" "57268600" "57268600" "del" "0" "02575" "OTX2_000076" "g.57268600del" "" "" "" "749delG" "" "De novo" "?" "" "0" "" "" "g.56801882del" "" "pathogenic (dominant)" "" "0000552706" "0" "50" "14" "57268475" "57268475" "subst" "8.12216E-6" "02327" "OTX2_000077" "g.57268475G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56801757G>A" "" "VUS" "" "0000552707" "0" "70" "14" "57268652" "57268662" "del" "0" "01804" "OTX2_000078" "g.57268652_57268662del" "" "" "" "OTX2(NM_021728.3):c.686_696del (p.(Pro229GlnfsTer27))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56801934_56801944del" "" "likely pathogenic" "" "0000552708" "0" "10" "14" "57268888" "57268888" "subst" "0.00216081" "02330" "OTX2_000079" "g.57268888G>A" "" "" "" "OTX2(NM_001270524.2):c.435C>T (p.S145=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56802170G>A" "" "benign" "" "0000552709" "0" "50" "14" "57268922" "57268922" "subst" "0.000203082" "01943" "OTX2_000080" "g.57268922G>C" "" "" "" "OTX2(NM_001270523.1):c.401C>G (p.(Pro134Arg)), OTX2(NM_001270524.1):c.401C>G (p.P134R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56802204G>C" "" "VUS" "" "0000614981" "0" "50" "14" "57268922" "57268922" "subst" "0.000203082" "01804" "OTX2_000080" "g.57268922G>C" "" "" "" "OTX2(NM_001270523.1):c.401C>G (p.(Pro134Arg)), OTX2(NM_001270524.1):c.401C>G (p.P134R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56802204G>C" "" "VUS" "" "0000614982" "0" "50" "14" "57270916" "57270916" "subst" "0" "02327" "OTX2_000081" "g.57270916G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56804198G>A" "" "VUS" "" "0000623142" "0" "50" "14" "57268853" "57268853" "subst" "4.0623E-6" "01943" "OTX2_000067" "g.57268853A>T" "" "" "" "OTX2(NM_001270524.1):c.470T>A (p.I157N), OTX2(NM_001270524.2):c.470T>A (p.I157N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56802135A>T" "" "VUS" "" "0000691678" "0" "30" "14" "57268903" "57268903" "subst" "0.000357442" "01943" "OTX2_000069" "g.57268903C>G" "" "" "" "OTX2(NM_001270524.1):c.420G>C (p.P140=), OTX2(NM_001270524.2):c.420G>C (p.P140=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000697975" "0" "90" "14" "57270906" "57270906" "subst" "0" "00006" "OTX2_000082" "g.57270906C>G" "" "{PMID:Slavotinek 2015:25457163}" "" "" "" "De novo" "" "" "0" "" "" "g.56804188C>G" "" "pathogenic (dominant)" "" "0000724798" "0" "90" "14" "57268756" "57268756" "subst" "0" "02329" "OTX2_000075" "g.57268756A>T" "" "" "" "OTX2(NM_001270524.2):c.567T>A (p.Y189*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000730346" "0" "90" "14" "57269068" "57269068" "subst" "0" "00000" "OTX2_000084" "g.57269068C>T" "" "{PMID:Sanchez-Navarro 2018:29588463}" "" "" "" "De novo" "" "" "0" "" "" "g.56802350C>T" "" "pathogenic (dominant)" "" "0000730347" "0" "90" "14" "57268764" "57268764" "subst" "0" "00000" "OTX2_000083" "g.57268764G>A" "" "{PMID:Sanchez-Navarro 2018:29588463}" "" "" "" "De novo" "" "" "0" "" "" "g.56802046G>A" "" "pathogenic (dominant)" "" "0000730890" "0" "90" "14" "57270907" "57270907" "dup" "0" "00000" "OTX2_000086" "g.57270907dup" "" "{PMID:Patel 2017:29450879}" "" "NM_172337.2:c.248dup" "ACMG PVS1, PM2, PM6" "Germline/De novo (untested)" "" "" "0" "" "" "g.56804189dup" "" "pathogenic" "ACMG" "0000730891" "0" "90" "14" "57269069" "57269069" "subst" "0" "00000" "OTX2_000085" "g.57269069C>T" "" "{PMID:Patel 2017:29450879}" "" "NM_172337.2:c.254G>A" "ACMG PVS1, PS2, PM2" "De novo" "" "" "0" "" "" "g.56802351C>T" "" "pathogenic (dominant)" "ACMG" "0000730999" "1" "70" "14" "0" "0" "" "0" "00000" "SERPINA1_000009" "g.?" "" "{PMID:Bryant 2018:29343940}" "" "527del (Pro177*)" "" "De novo" "" "" "0" "" "" "" "" "likely pathogenic (dominant)" "" "0000732455" "0" "50" "14" "57271053" "57271053" "subst" "0" "00000" "OTX2_000087" "g.57271053G>T" "" "{PMID:Costa 2017:28912962}" "" "" "" "Germline" "" "" "0" "" "" "g.56804335G>T" "" "VUS" "" "0000759851" "1" "70" "14" "0" "0" "" "0" "00000" "SERPINA1_000009" "g.?" "" "{PMID:Wang 2016:27422788}" "" "c.G640T p.G214X" "" "De novo" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000760334" "0" "70" "14" "57268813" "57268813" "subst" "0" "00000" "OTX2_000088" "g.57268813G>T" "" "{PMID:Ellingford 2016:27208204}" "" "" "" "Germline" "" "" "0" "" "" "g.56802095G>T" "" "likely pathogenic" "" "0000765461" "1" "70" "14" "57272122" "57272122" "subst" "0" "00000" "OTX2_000089" "g.57272122G>A" "1/596 chromosomes" "{PMID:Sun 2015:26747767}" "" "" "not in 624 control chromosomes" "Germline" "" "" "0" "" "" "g.56805404G>A" "" "likely pathogenic" "" "0000765462" "1" "70" "14" "57270920" "57270920" "subst" "0" "00000" "OTX2_000070" "g.57270920C>T" "1/596 chromosomes" "{PMID:Sun 2015:26747767}" "" "" "not in 624 control chromosomes" "Germline" "" "" "0" "" "" "g.56804202C>T" "" "likely pathogenic" "" "0000783824" "0" "90" "14" "57272152" "57272152" "subst" "0" "00000" "OTX2_000090" "g.57272152G>T" "" "{PMID:Wang 2015:26047050}" "" "" "" "Germline" "" "" "0" "" "" "g.56805434G>T" "" "pathogenic" "" "0000792033" "0" "90" "14" "57270914" "57270914" "subst" "0" "00000" "OTX2_000091" "g.57270914G>A" "" "{PMID:Gonzalez Rodriguez 2010:20494911}" "" "c.265c>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000794703" "0" "70" "14" "57268503" "57268503" "subst" "1.21819E-5" "00000" "OTX2_000092" "g.57268503A>T" "" "{PMID:Kersten 2018:30215852}" "" "c.844?T>A; p.C282S" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.56801785A>T" "" "likely pathogenic" "" "0000795924" "0" "70" "14" "57268683" "57268683" "subst" "0" "00000" "OTX2_000093" "g.57268683C>K" "" "{PMID:Schorderet-2013:23484092}" "" "p.OTX2-G222R" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic" "" "0000796241" "0" "90" "14" "0" "0" "" "0" "00000" "SERPINA1_000009" "g.?" "" "{PMID:Wang-2013:23847139}" "" "p.Q181Hfs×7" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000806429" "0" "10" "14" "57268516" "57268516" "subst" "0.000385762" "02330" "OTX2_000064" "g.57268516G>A" "" "" "" "OTX2(NM_001270524.1):c.807C>T (p.N269=), OTX2(NM_001270524.2):c.807C>T (p.N269=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000813025" "0" "70" "14" "57269187" "57925545" "dup" "0" "00000" "OTX2_000095" "g.57269187_57925545dup" "" "{PMID:Ehrenberg 2019:31814694}" "" "RDH12 (NM_152443; OMIM: 608830): c.164C>T; p.Thr55Met (het) c.295C>A; p.Leu99Ile (het) (RP), OTX2 (NM_021728.3; OMIM: 600037): duplica tion Arr[hg19]14q22.3 (57269186_57925544)dup (het) (hemifacial microsomia)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.56802469_57458827dup" "" "likely pathogenic" "" "0000813889" "0" "70" "14" "57268538" "57268538" "del" "0" "00000" "OTX2_000094" "g.57268538del" "" "{PMID:Jiman 2020:31836858}" "" "OTX2;NM_021728.2;c.[811del];[811=];p.[(Thr271Leufs*31)];[(Thr271=)];" "heterozygous" "Unknown" "?" "" "0" "" "" "g.56801820del" "" "likely pathogenic" "" "0000816278" "0" "50" "14" "57268669" "57268670" "ins" "0" "00000" "OTX2_000096" "g.57268669_57268670insCACA" "" "{PMID:Zampaglione 2020:32037395}" "" "OTX2 c.677_678insTGTG, p.Leu227ValfsTer34" "unsolved" "Unknown" "?" "" "0" "" "" "g.56801951_56801952insCACA" "" "VUS" "" "0000821320" "0" "70" "14" "57270916" "57270916" "subst" "0" "00000" "OTX2_000097" "g.57270916G>C" "" "{PMID:Turro 2020:32581362}" "" "OTX2 c.263C>G, p.Ser88Trp" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.56804198G>C" "" "likely pathogenic" "" "0000826938" "0" "50" "14" "57271073" "57271073" "subst" "0" "00000" "OTX2_000098" "g.57271073C>G" "" "{PMID:Thorsteinsson 2021:33851411}" "" "OTX2 c.106G>C, p.Ala36Pro" "heterozygous" "Unknown" "?" "" "0" "" "" "g.56804355C>G" "" "VUS" "" "0000828517" "0" "70" "14" "57268841" "57268841" "subst" "0" "00000" "OTX2_000099" "g.57268841G>C" "" "{PMID:Perea-Romero 2021:34448047}" "" "OTX2, gene that can display both dominant and recessive patterns of inheritance, c.506C>G, p.Ser169*, heterozygous" "" "Unknown" "?" "" "0" "" "" "g.56802123G>C" "" "likely pathogenic" "ACMG" "0000847398" "0" "70" "14" "57268859" "57268860" "dup" "0" "00000" "OTX2_000104" "g.57268859_57268860dup" "" "" "" "c.635insGC" "" "De novo" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000847399" "0" "70" "14" "57269058" "57269058" "subst" "0" "00000" "OTX2_000115" "g.57269058G>C" "" "" "" "c.436C>G" "" "De novo" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000847400" "21" "70" "14" "57272094" "57272094" "del" "0" "00000" "OTX2_000121" "g.57272094del" "" "" "" "c.252delC" "" "Somatic" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000847401" "21" "70" "14" "57268786" "57268786" "subst" "0" "00000" "OTX2_000103" "g.57268786A>T" "" "" "" "c.708T>A" "" "Somatic" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000847402" "21" "70" "14" "57268786" "57268786" "subst" "0" "00000" "OTX2_000103" "g.57268786A>T" "" "" "" "c.708T>A" "" "Somatic" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000847403" "21" "70" "14" "57271037" "57271038" "del" "0" "00000" "OTX2_000118" "g.57271037_57271038del" "" "" "" "c.288delCC" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000847404" "11" "70" "14" "57269028" "57269028" "subst" "0" "00000" "OTX2_000113" "g.57269028G>A" "" "" "" "c.466C>T" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000847405" "21" "70" "14" "57268926" "57268926" "subst" "1.62463E-5" "00000" "OTX2_000108" "g.57268926G>T" "" "" "" "c.568C>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000847406" "21" "70" "14" "57268923" "57268923" "subst" "4.06144E-6" "00000" "OTX2_000107" "g.57268923G>C" "" "" "" "c.571C>G" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000847410" "11" "70" "14" "57268615" "57268615" "subst" "0" "00000" "OTX2_000100" "g.57268615A>T" "" "" "" "c.708T>A p.Y179X" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000847411" "0" "90" "14" "57268945" "57268945" "dup" "0" "00000" "OTX2_000110" "g.57268945dup" "" "" "" "c.402insC" "" "De novo" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000847413" "0" "70" "14" "56268037" "57541514" "del" "0" "00000" "OTX2_000122" "g.56268037_57541514del" "" "" "" "Whole gene deletion" "" "De novo" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000847414" "0" "70" "14" "57272082" "57272082" "subst" "0" "00000" "OTX2_000120" "g.57272082G>C" "" "" "" "c.93C>G" "" "De novo" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000847415" "0" "70" "14" "57271049" "57271049" "dup" "0" "00000" "OTX2_000119" "g.57271049dup" "" "" "" "c.106dupC" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000847416" "0" "70" "14" "57271049" "57271049" "dup" "0" "00000" "OTX2_000119" "g.57271049dup" "" "" "" "c.106dupC" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000847417" "0" "70" "14" "57269034" "57269034" "subst" "0" "00000" "OTX2_000114" "g.57269034G>A" "" "" "" "c.289C>T" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000847418" "0" "70" "14" "57269034" "57269034" "subst" "0" "00000" "OTX2_000114" "g.57269034G>A" "" "" "" "c.289C>T" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000847419" "0" "70" "14" "57268949" "57268950" "del" "0" "00000" "OTX2_000111" "g.57268949_57268950del" "" "" "" "c.371_372delAG" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000847420" "0" "90" "14" "57268770" "57268771" "ins" "0" "00000" "OTX2_000102" "g.57268770_57268771insAG" "" "" "" "c.576-577insCT p.S136fsX178" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000847421" "0" "90" "14" "57268934" "57268934" "subst" "0" "00000" "OTX2_000109" "g.57268934G>C" "0/181 controls" "" "" "c.413C>G p.S138X" "" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000847422" "11" "70" "14" "57270909" "57270909" "subst" "0" "00000" "OTX2_000116" "g.57270909T>A" "0/96 caucasian controls" "" "" "c.270A>T, p.R90S" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000847423" "11" "70" "14" "57271019" "57271019" "dup" "0" "00000" "OTX2_000117" "g.57271019dup" "0/96 caucasian controls" "" "" "c.136dupA" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000847424" "0" "70" "14" "57271019" "57271019" "dup" "0" "00000" "OTX2_000117" "g.57271019dup" "0/96 caucasian controls; 0/96 hispanic controls" "" "" "c.136dupA" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000847425" "0" "70" "14" "57269010" "57269010" "subst" "0" "00000" "OTX2_000112" "g.57269010G>A" "0/96 caucasian controls; 0/96 hispanic controls" "" "" "c.313C>T" "" "De novo" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000847426" "0" "70" "14" "57268866" "57268867" "delins" "0" "00000" "OTX2_000106" "g.57268866_57268867delinsAT" "0/96 caucasian controls; 0/96 hispanic controls" "" "" "c.456_457delGAinsAT" "" "De novo" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000847427" "0" "70" "14" "57268767" "57268770" "dup" "0" "00000" "OTX2_000101" "g.57268767_57268770dup" "0/96 caucasian controls; 0/96 hispanic controls" "" "" "c.553_556dupTATA" "" "De novo" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000847433" "0" "90" "14" "57270920" "57270920" "subst" "0" "00000" "OTX2_000070" "g.57270920C>T" "" "" "" "c.235G>A (E79K)" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000847434" "0" "90" "14" "57270920" "57270920" "subst" "0" "00000" "OTX2_000070" "g.57270920C>T" "" "" "" "c.235G>A (E79K)" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000847435" "0" "90" "14" "57270920" "57270920" "subst" "0" "00000" "OTX2_000070" "g.57270920C>T" "" "" "" "c.235G>A (E79K)" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000847436" "0" "90" "14" "57270920" "57270920" "subst" "0" "00000" "OTX2_000070" "g.57270920C>T" "" "" "" "c.235G>A (E79K)" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000847437" "0" "90" "14" "57270920" "57270920" "subst" "0" "00000" "OTX2_000070" "g.57270920C>T" "" "" "" "c.235G>A (E79K)" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000847438" "0" "90" "14" "57270920" "57270920" "subst" "0" "00000" "OTX2_000070" "g.57270920C>T" "" "" "" "c.235G>A (E79K)" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000847439" "0" "90" "14" "57270920" "57270920" "subst" "0" "00000" "OTX2_000070" "g.57270920C>T" "" "" "" "c.235G>A (E79K)" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000847440" "0" "90" "14" "57268862" "57268862" "del" "0" "00000" "OTX2_000105" "g.57268862del" "" "" "" "c.485delC (p.Pro162G.Infs*24)" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic" "" "0000853844" "0" "30" "14" "57271037" "57271037" "subst" "0" "01943" "OTX2_000124" "g.57271037G>T" "" "" "" "OTX2(NM_001270524.1):c.118C>A (p.R40=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863582" "0" "50" "14" "57268634" "57268634" "subst" "1.21818E-5" "02325" "OTX2_000123" "g.57268634T>A" "" "" "" "OTX2(NM_172337.3):c.689A>T (p.H230L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000874573" "0" "70" "14" "57270931" "57270931" "subst" "0" "00000" "OTX2_000125" "g.57270931A>T" "absent in 240 in-house exomes alleles from Mexican individuals without ocular malformations" "{PMID:Matias-Perez 2018:30181649}" "" "OTX2 c.249-1G>A, Splicing" "error in annotation, from published sequence the mutation is c.250-1G>A; heterozygous" "Germline" "yes" "" "0" "" "" "g.56804213A>T" "" "likely pathogenic" "" "0000874574" "0" "70" "14" "57270931" "57270931" "subst" "0" "00000" "OTX2_000125" "g.57270931A>T" "absent in 240 in-house exomes alleles from Mexican individuals without ocular malformations" "{PMID:Matias-Perez 2018:30181649}" "" "OTX2 c.249-1G>A, Splicing" "error in annotation, from published sequence the mutation is c.250-1G>A; heterozygous" "Germline" "yes" "" "0" "" "" "g.56804213A>T" "" "likely pathogenic" "" "0000874575" "0" "70" "14" "57270931" "57270931" "subst" "0" "00000" "OTX2_000125" "g.57270931A>T" "absent in 240 in-house exomes alleles from Mexican individuals without ocular malformations" "{PMID:Matias-Perez 2018:30181649}" "" "OTX2 c.249-1G>A, Splicing" "error in annotation, from published sequence the mutation is c.250-1G>A; heterozygous" "Germline" "yes" "" "0" "" "" "g.56804213A>T" "" "likely pathogenic" "" "0000916368" "0" "70" "14" "57268809" "57268809" "subst" "0" "04436" "OTX2_000126" "g.57268809G>A" "" "{PMID:Panneman 2023:36819107}" "" "c.538C>T" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000930313" "0" "30" "14" "57268620" "57268620" "subst" "0" "01804" "OTX2_000127" "g.57268620G>C" "" "" "" "OTX2(NM_001270523.1):c.703C>G (p.(Pro235Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000939834" "0" "90" "14" "57268565" "57268568" "del" "0" "00006" "OTX2_000128" "g.57268565_57268568del" "" "{PMID:Nambot 2018:29095811}" "" "" "" "De novo" "" "" "0" "" "" "g.56801847_56801850del" "" "pathogenic (dominant)" "" "0000954141" "21" "90" "14" "57269051" "57269051" "subst" "0" "00006" "OTX2_000129" "g.57269051G>T" "" "{PMID:Riera 2017:29178648}" "" "" "mother likely incomplete penetrant carrier" "Germline" "" "" "0" "" "" "g.56802333G>T" "" "pathogenic (!)" "" "0000958668" "0" "50" "14" "57271054" "57271054" "subst" "0" "00006" "OTX2_000130" "g.57271054G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PP2" "Germline" "" "" "0" "" "" "g.56804336G>A" "" "VUS" "ACMG" "0000980938" "0" "50" "14" "57272137" "57272137" "subst" "3.24984E-5" "01804" "OTX2_000131" "g.57272137T>C" "" "" "" "OTX2(NM_021728.4):c.38A>G (p.(Asn13Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001026393" "0" "50" "14" "57272114" "57272114" "subst" "0" "02329" "OTX2_000132" "g.57272114C>G" "" "" "" "OTX2(NM_021728.4):c.61G>C (p.G21R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040012" "0" "50" "14" "57268504" "57268504" "subst" "0" "01804" "OTX2_000133" "g.57268504G>T" "" "" "" "OTX2(NM_021728.4):c.843C>A (p.(Asp281Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040013" "0" "50" "14" "57268604" "57268604" "subst" "6.4972E-5" "01804" "OTX2_000065" "g.57268604G>A" "" "" "" "OTX2(NM_001270524.1):c.719C>T (p.T240I), OTX2(NM_021728.4):c.743C>T (p.(Thr248Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040014" "0" "50" "14" "57271054" "57271054" "subst" "1.22043E-5" "01804" "OTX2_000071" "g.57271054G>T" "" "" "" "OTX2(NM_001270524.2):c.101C>A (p.T34N), OTX2(NM_021728.4):c.125C>A (p.(Thr42Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001058319" "0" "90" "14" "53750780" "61518967" "del" "0" "00006" "OTX2_000135" "g.(?_53750780)_(61518967_?)del" "" "{PMID:Chassaing 2014:24033328}" "" "" "7.7Mb deletion" "Germline/De novo (untested)" "" "" "0" "" "hg18 14q22.2q23.1(52,820,533-60,588,720)x1" "g.(?_53284062)_(61052249_?)del" "" "pathogenic (dominant)" "" "0001058320" "1" "90" "14" "55208167" "57500336" "del" "0" "00006" "OTX2_000136" "g.(?_55208167)_(57500336_?)del" "" "{PMID:Chassaing 2007:17219395}, {PMID:Chassaing 2014:24033328}" "" "" "2.3Mb deletion" "Germline" "" "" "0" "" "hg18 14q22.2q23.1(54,277,920-56,570,089)x1" "g.(?_54741449)_(57033618_?)del" "" "pathogenic (dominant)" "" "0001058321" "0" "90" "14" "57269058" "57269058" "subst" "0" "00006" "OTX2_000137" "g.57269058G>A" "" "{PMID:Chassaing 2014:24033328}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.56802340G>A" "" "pathogenic (dominant)" "" "0001058322" "11" "90" "14" "57269058" "57269058" "subst" "0" "00006" "OTX2_000137" "g.57269058G>A" "" "{PMID:Chassaing 2014:24033328}" "" "" "" "Germline" "" "" "0" "" "" "g.56802340G>A" "" "pathogenic (dominant)" "" "0001058323" "0" "90" "14" "57269031" "57269031" "del" "0" "00006" "OTX2_000134" "g.57269031del" "" "{PMID:Chassaing 2012:22577225}, {PMID:Chassaing 2014:24033328}" "" "316delC" "" "Germline" "" "" "0" "" "" "g.56802313del" "" "pathogenic (dominant)" "" ## 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 OTX2 ## Count = 142 "{{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}}" "0000040283" "00023889" "70" "761" "0" "761" "0" "c.761C>A" "r.(?)" "p.(Ser254*)" "5" "0000063639" "00023889" "10" "98" "-46" "98" "-46" "c.98-46C>A" "r.(=)" "p.(=)" "3i" "0000063640" "00023889" "50" "1234" "0" "1234" "0" "c.*340del" "r.(=)" "p.(=)" "5" "0000064766" "00023889" "90" "675" "0" "675" "0" "c.675del" "r.(?)" "p.(Thr226Hisfs*76)" "5" "0000247288" "00023889" "50" "494" "0" "494" "0" "c.494T>A" "r.(?)" "p.(Ile165Asn)" "" "0000247288" "00025707" "50" "470" "0" "470" "0" "c.470T>A" "r.(?)" "p.(Ile157Asn)" "" "0000293410" "00023889" "50" "100" "0" "100" "0" "c.100C>T" "r.(?)" "p.(Pro34Ser)" "" "0000293410" "00025707" "50" "98" "-22" "98" "-22" "c.98-22C>T" "r.(=)" "p.(=)" "" "0000293411" "00023889" "50" "125" "0" "125" "0" "c.125C>A" "r.(?)" "p.(Thr42Asn)" "" "0000293411" "00025707" "50" "101" "0" "101" "0" "c.101C>A" "r.(?)" "p.(Thr34Asn)" "" "0000293412" "00023889" "70" "259" "0" "259" "0" "c.259G>A" "r.(?)" "p.(Glu87Lys)" "" "0000293412" "00025707" "70" "235" "0" "235" "0" "c.235G>A" "r.(?)" "p.(Glu79Lys)" "" "0000293413" "00023889" "10" "444" "0" "444" "0" "c.444G>C" "r.(?)" "p.(Pro148=)" "" "0000293413" "00025707" "10" "420" "0" "420" "0" "c.420G>C" "r.(?)" "p.(Pro140=)" "" "0000293414" "00023889" "50" "448" "0" "448" "0" "c.448A>G" "r.(?)" "p.(Ile150Val)" "" "0000293414" "00025707" "50" "424" "0" "424" "0" "c.424A>G" "r.(?)" "p.(Ile142Val)" "" "0000293415" "00023889" "10" "663" "0" "663" "0" "c.663C>T" "r.(?)" "p.(Pro221=)" "" "0000293415" "00025707" "10" "639" "0" "639" "0" "c.639C>T" "r.(?)" "p.(Pro213=)" "" "0000293416" "00023889" "10" "97" "12" "97" "12" "c.97+12C>T" "r.(=)" "p.(=)" "" "0000293416" "00025707" "10" "97" "12" "97" "12" "c.97+12C>T" "r.(=)" "p.(=)" "" "0000304891" "00023889" "30" "663" "0" "663" "0" "c.663C>T" "r.(?)" "p.(Pro221=)" "" "0000304891" "00025707" "30" "639" "0" "639" "0" "c.639C>T" "r.(?)" "p.(Pro213=)" "" "0000304892" "00023889" "50" "743" "0" "743" "0" "c.743C>T" "r.(?)" "p.(Thr248Ile)" "" "0000304892" "00025707" "50" "719" "0" "719" "0" "c.719C>T" "r.(?)" "p.(Thr240Ile)" "" "0000304893" "00023889" "30" "831" "0" "831" "0" "c.831C>T" "r.(?)" "p.(Asn277=)" "" "0000304893" "00025707" "30" "807" "0" "807" "0" "c.807C>T" "r.(?)" "p.(Asn269=)" "" "0000349552" "00023889" "50" "155" "0" "155" "0" "c.155C>A" "r.(?)" "p.(Thr52Lys)" "" "0000349552" "00025707" "50" "131" "0" "131" "0" "c.131C>A" "r.(?)" "p.(Thr44Lys)" "" "0000405879" "00023889" "90" "749" "0" "749" "0" "c.749del" "r.(?)" "p.(Gly250Aspfs*52)" "" "0000552706" "00023889" "50" "872" "0" "872" "0" "c.872C>T" "r.(?)" "p.(Ser291Leu)" "" "0000552706" "00025707" "50" "848" "0" "848" "0" "c.848C>T" "r.(?)" "p.(Ser283Leu)" "" "0000552707" "00023889" "70" "686" "0" "696" "0" "c.686_696del" "r.(?)" "p.(Pro229GlnfsTer27)" "" "0000552707" "00025707" "70" "662" "0" "672" "0" "c.662_672del" "r.(?)" "p.(Pro221GlnfsTer27)" "" "0000552708" "00023889" "10" "459" "0" "459" "0" "c.459C>T" "r.(?)" "p.(Ser153=)" "" "0000552708" "00025707" "10" "435" "0" "435" "0" "c.435C>T" "r.(?)" "p.(Ser145=)" "" "0000552709" "00023889" "50" "425" "0" "425" "0" "c.425C>G" "r.(?)" "p.(Pro142Arg)" "" "0000552709" "00025707" "50" "401" "0" "401" "0" "c.401C>G" "r.(?)" "p.(Pro134Arg)" "" "0000614981" "00023889" "50" "425" "0" "425" "0" "c.425C>G" "r.(?)" "p.(Pro142Arg)" "" "0000614981" "00025707" "50" "401" "0" "401" "0" "c.401C>G" "r.(?)" "p.(Pro134Arg)" "" "0000614982" "00023889" "50" "263" "0" "263" "0" "c.263C>T" "r.(?)" "p.(Ser88Leu)" "" "0000614982" "00025707" "50" "239" "0" "239" "0" "c.239C>T" "r.(?)" "p.(Ser80Leu)" "" "0000623142" "00023889" "50" "494" "0" "494" "0" "c.494T>A" "r.(?)" "p.(Ile165Asn)" "" "0000623142" "00025707" "50" "470" "0" "470" "0" "c.470T>A" "r.(?)" "p.(Ile157Asn)" "" "0000691678" "00023889" "30" "444" "0" "444" "0" "c.444G>C" "r.(?)" "p.(Pro148=)" "" "0000691678" "00025707" "30" "420" "0" "420" "0" "c.420G>C" "r.(?)" "p.(Pro140=)" "" "0000697975" "00023889" "90" "273" "0" "273" "0" "c.273G>C" "r.(?)" "p.(Gln91His)" "" "0000724798" "00023889" "90" "591" "0" "591" "0" "c.591T>A" "r.(?)" "p.(Tyr197Ter)" "" "0000724798" "00025707" "90" "567" "0" "567" "0" "c.567T>A" "r.(?)" "p.(Tyr189Ter)" "" "0000730346" "00023889" "90" "255" "0" "255" "0" "c.255G>A" "r.(?)" "p.(Trp85*)" "" "0000730347" "00023889" "90" "559" "0" "559" "0" "c.559C>T" "r.(?)" "p.(Gln187*)" "" "0000730890" "00023889" "90" "272" "0" "272" "0" "c.272dup" "r.(?)" "p.(Val92Glyfs*4)" "" "0000730891" "00023889" "90" "278" "0" "278" "0" "c.278G>A" "r.(?)" "p.(Trp93*)" "" "0000730999" "00023889" "70" "0" "0" "0" "0" "c.?" "r.(?)" "p.(Ser176Phefs*10)" "" "0000732455" "00023889" "50" "126" "0" "126" "0" "c.126C>A" "r.(?)" "p.(Thr42=)" "" "0000759851" "00023889" "70" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000760334" "00023889" "70" "534" "0" "534" "0" "c.534C>A" "r.(?)" "p.(Cys178*)" "" "0000765461" "00023889" "70" "53" "0" "53" "0" "c.53C>T" "r.(?)" "p.(Thr18Ile)" "" "0000765462" "00023889" "70" "259" "0" "259" "0" "c.259G>A" "r.(?)" "p.(Glu87Lys)" "" "0000783824" "00023889" "90" "23" "0" "23" "0" "c.23C>A" "r.(?)" "p.(Pro8Gln)" "" "0000792033" "00023889" "90" "265" "0" "265" "0" "c.265C>T" "r.(?)" "p.?" "4" "0000794703" "00023889" "70" "844" "0" "844" "0" "c.844T>A" "r.(?)" "p.(Cys282Ser)" "" "0000795924" "00023889" "70" "664" "0" "664" "0" "c.664G>M" "r.(?)" "p.(His337Arg)" "5" "0000796241" "00023889" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "" "0000806429" "00023889" "10" "831" "0" "831" "0" "c.831C>T" "r.(?)" "p.(Asn277=)" "" "0000806429" "00025707" "10" "807" "0" "807" "0" "c.807C>T" "r.(?)" "p.(Asn269=)" "" "0000813025" "00023889" "70" "" "0" "" "0" "r.0?" "r.(?)" "p.(?)" "" "0000813889" "00023889" "70" "811" "0" "811" "0" "c.811del" "r.(?)" "p.(Thr271Leufs*31)" "" "0000813889" "00025707" "70" "785" "0" "785" "0" "c.785del" "r.(?)" "p.(Thr263Leufs*31)" "" "0000816278" "00023889" "50" "677" "0" "678" "0" "c.677_678insTGTG" "r.(?)" "p.(Leu227Valfs*34)" "" "0000821320" "00023889" "70" "263" "0" "263" "0" "c.263C>G" "r.(?)" "p.(Ser88Trp)" "" "0000821320" "00025707" "70" "239" "0" "239" "0" "c.239C>G" "r.(?)" "p.(Ser80Trp)" "" "0000826938" "00023889" "50" "106" "0" "106" "0" "c.106G>C" "r.(?)" "p.(Ala36Pro)" "" "0000826938" "00025707" "50" "98" "-16" "98" "-16" "c.98-16G>C" "r.(=)" "p.(=)" "" "0000828517" "00023889" "70" "506" "0" "506" "0" "c.506C>G" "r.(?)" "p.(Ser169*)" "" "0000828517" "00025707" "70" "482" "0" "482" "0" "c.482C>G" "r.(?)" "p.(Ser161*)" "" "0000847398" "00025707" "70" "463" "0" "464" "0" "c.463_464dup" "r.(?)" "p.(Ser156Leufs*23)" "3" "0000847399" "00025707" "70" "265" "0" "265" "0" "c.265C>G" "r.(?)" "p.(Arg89Gly)" "3" "0000847400" "00025707" "70" "81" "0" "81" "0" "c.81del" "r.(?)" "p.(Ser28Profs*23)" "1" "0000847401" "00025707" "70" "537" "0" "537" "0" "c.537T>A" "r.(?)" "p.(Tyr179*)" "3" "0000847402" "00025707" "70" "537" "0" "537" "0" "c.537T>A" "r.(?)" "p.(Tyr179*)" "3" "0000847403" "00025707" "70" "117" "0" "118" "0" "c.117_118del" "r.(?)" "p.(Arg40Glyfs*47)" "2" "0000847404" "00025707" "70" "295" "0" "295" "0" "c.295C>T" "r.(?)" "p.(Gln99*)" "3" "0000847405" "00025707" "70" "397" "0" "397" "0" "c.397C>A" "r.(?)" "p.(Pro133Thr)" "3" "0000847406" "00025707" "70" "400" "0" "400" "0" "c.400C>G" "r.(?)" "p.(Pro134Ala)" "3" "0000847410" "00025707" "70" "708" "0" "708" "0" "c.708T>A" "r.(=)" "p.(=)" "3" "0000847411" "00023889" "90" "402" "0" "402" "0" "c.402dup" "r.(?)" "p.(Thr135Asnfs*10)" "5" "0000847413" "00023889" "70" "-264604" "0" "1001310" "0" "c.-264604_*1000416del" "r.0?" "p.0?" "" "0000847413" "00025707" "70" "-269340" "0" "1001286" "0" "c.-269340_*1000416del" "r.0?" "p.0?" "" "0000847414" "00025707" "70" "93" "0" "93" "0" "c.93C>G" "r.(?)" "p.(Tyr31*)" "1" "0000847415" "00025707" "70" "106" "0" "106" "0" "c.106dup" "r.(?)" "p.(Arg36Profs*52)" "2" "0000847416" "00025707" "70" "106" "0" "106" "0" "c.106dup" "r.(?)" "p.(Arg36Profs*52)" "2" "0000847417" "00025707" "70" "289" "0" "289" "0" "c.289C>T" "r.(?)" "p.(Gln97*)" "3" "0000847418" "00025707" "70" "289" "0" "289" "0" "c.289C>T" "r.(?)" "p.(Gln97*)" "3" "0000847419" "00025707" "70" "373" "0" "374" "0" "c.373_374del" "r.(?)" "p.(Ser125Trpfs*11)" "3" "0000847420" "00023889" "90" "576" "0" "577" "0" "c.576_577insCT" "r.(?)" "p.(Tyr193Leufs*22)" "5" "0000847421" "00023889" "90" "413" "0" "413" "0" "c.413C>G" "r.(?)" "p.(Ser138*)" "5" "0000847422" "00023889" "70" "270" "0" "270" "0" "c.270A>T" "r.(?)" "p.(Arg90Ser)" "4" "0000847423" "00025707" "70" "136" "0" "136" "0" "c.136dup" "r.(?)" "p.(Thr46Asnfs*42)" "2" "0000847424" "00025707" "70" "136" "0" "136" "0" "c.136dup" "r.(?)" "p.(Thr46Asnfs*42)" "2" "0000847425" "00025707" "70" "313" "0" "313" "0" "c.313C>T" "r.(?)" "p.(Gln105*)" "3" "0000847426" "00025707" "70" "456" "0" "457" "0" "c.456_457delinsAT" "r.(?)" "p.(Trp152*)" "3" "0000847427" "00025707" "70" "553" "0" "556" "0" "c.553_556dup" "r.(?)" "p.(Ser186Ilefs*2)" "3" "0000847433" "00025707" "90" "235" "0" "235" "0" "c.235G>A" "r.(?)" "p.(Glu79Lys)" "2" "0000847434" "00025707" "90" "235" "0" "235" "0" "c.235G>A" "r.(?)" "p.(Glu79Lys)" "2" "0000847435" "00025707" "90" "235" "0" "235" "0" "c.235G>A" "r.(?)" "p.(Glu79Lys)" "2" "0000847436" "00025707" "90" "235" "0" "235" "0" "c.235G>A" "r.(?)" "p.(Glu79Lys)" "2" "0000847437" "00025707" "90" "235" "0" "235" "0" "c.235G>A" "r.(?)" "p.(Glu79Lys)" "2" "0000847438" "00025707" "90" "235" "0" "235" "0" "c.235G>A" "r.(?)" "p.(Glu79Lys)" "2" "0000847439" "00025707" "90" "235" "0" "235" "0" "c.235G>A" "r.(?)" "p.(Glu79Lys)" "2" "0000847440" "00023889" "90" "485" "0" "485" "0" "c.485del" "r.(?)" "p.(Pro162Glnfs*24)" "5" "0000853844" "00023889" "30" "142" "0" "142" "0" "c.142C>A" "r.(?)" "p.(Arg48=)" "" "0000853844" "00025707" "30" "118" "0" "118" "0" "c.118C>A" "r.(?)" "p.(Arg40=)" "" "0000863582" "00023889" "50" "713" "0" "713" "0" "c.713A>T" "r.(?)" "p.(His238Leu)" "" "0000863582" "00025707" "50" "689" "0" "689" "0" "c.689A>T" "r.(?)" "p.(His230Leu)" "" "0000874573" "00023889" "70" "250" "-1" "250" "-1" "c.250-1G>A" "r.spl" "p.?" "0" "0000874573" "00025707" "70" "224" "0" "224" "0" "c.224T>A" "r.(?)" "p.(Ile75Asn)" "" "0000874574" "00023889" "70" "250" "-1" "250" "-1" "c.250-1G>A" "r.spl" "p.?" "21" "0000874574" "00025707" "70" "224" "0" "224" "0" "c.224T>A" "r.(?)" "p.(Ile75Asn)" "" "0000874575" "00023889" "70" "250" "-1" "250" "-1" "c.250-1G>A" "r.spl" "p.?" "21" "0000874575" "00025707" "70" "224" "0" "224" "0" "c.224T>A" "r.(?)" "p.(Ile75Asn)" "" "0000916368" "00023889" "70" "538" "0" "538" "0" "c.538C>T" "r.(?)" "p.(Gln180*)" "5" "0000930313" "00023889" "30" "727" "0" "727" "0" "c.727C>G" "r.(?)" "p.(Pro243Ala)" "" "0000930313" "00025707" "30" "703" "0" "703" "0" "c.703C>G" "r.(?)" "p.(Pro235Ala)" "" "0000939834" "00023889" "90" "781" "0" "784" "0" "c.781_784del" "r.(?)" "p.(Thr261LeufsTer40)" "5" "0000954141" "00023889" "90" "296" "0" "296" "0" "c.296C>A" "r.(?)" "p.(Ala99Asp)" "" "0000954141" "00025707" "90" "272" "0" "272" "0" "c.272C>A" "r.(?)" "p.(Ala91Asp)" "" "0000958668" "00023889" "50" "125" "0" "125" "0" "c.125C>T" "r.(?)" "p.(Thr42Ile)" "" "0000980938" "00023889" "50" "38" "0" "38" "0" "c.38A>G" "r.(?)" "p.(Asn13Ser)" "" "0000980938" "00025707" "50" "38" "0" "38" "0" "c.38A>G" "r.(?)" "p.(Asn13Ser)" "" "0001026393" "00023889" "50" "61" "0" "61" "0" "c.61G>C" "r.(?)" "p.(Gly21Arg)" "" "0001026393" "00025707" "50" "61" "0" "61" "0" "c.61G>C" "r.(?)" "p.(Gly21Arg)" "" "0001040012" "00023889" "50" "843" "0" "843" "0" "c.843C>A" "r.(?)" "p.(Asp281Glu)" "" "0001040012" "00025707" "50" "819" "0" "819" "0" "c.819C>A" "r.(?)" "p.(Asp273Glu)" "" "0001040013" "00023889" "50" "743" "0" "743" "0" "c.743C>T" "r.(?)" "p.(Thr248Ile)" "" "0001040013" "00025707" "50" "719" "0" "719" "0" "c.719C>T" "r.(?)" "p.(Thr240Ile)" "" "0001040014" "00023889" "50" "125" "0" "125" "0" "c.125C>A" "r.(?)" "p.(Thr42Asn)" "" "0001040014" "00025707" "50" "101" "0" "101" "0" "c.101C>A" "r.(?)" "p.(Thr34Asn)" "" "0001058319" "00023889" "90" "-4242057" "0" "3518567" "0" "c.(?_-4242057)_(*3517673_?)del" "r.0" "p.0" "_1_5_" "0001058320" "00023889" "90" "-223426" "0" "2061180" "0" "c.(?_-223426)_(*2060286_?)del" "r.0" "p.0" "_1_5_" "0001058321" "00023889" "90" "289" "0" "289" "0" "c.289C>T" "r.(?)" "p.(Arg97Ter)" "" "0001058322" "00023889" "90" "289" "0" "289" "0" "c.289C>T" "r.(?)" "p.(Arg97Ter)" "" "0001058323" "00023889" "90" "316" "0" "316" "0" "c.316del" "r.(?)" "p.(Gln106AsnfsTer11)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 73 "{{screeningid}}" "{{variantid}}" "0000019831" "0000040283" "0000036514" "0000063639" "0000036515" "0000063640" "0000037618" "0000064766" "0000182062" "0000405879" "0000315873" "0000697975" "0000332959" "0000730346" "0000332960" "0000730347" "0000333319" "0000730890" "0000333320" "0000730891" "0000333424" "0000730999" "0000334578" "0000732455" "0000360153" "0000759851" "0000360442" "0000760334" "0000364596" "0000765461" "0000364597" "0000765462" "0000373676" "0000783824" "0000379013" "0000792033" "0000381304" "0000794703" "0000382209" "0000795924" "0000382428" "0000796241" "0000385852" "0000813025" "0000386394" "0000813889" "0000388120" "0000816278" "0000391571" "0000821320" "0000395570" "0000826938" "0000396827" "0000828517" "0000410136" "0000847398" "0000410137" "0000847399" "0000410138" "0000847400" "0000410139" "0000847401" "0000410140" "0000847402" "0000410141" "0000847403" "0000410142" "0000847404" "0000410143" "0000847405" "0000410144" "0000847406" "0000410148" "0000847410" "0000410149" "0000847411" "0000410151" "0000847413" "0000410152" "0000847414" "0000410153" "0000847415" "0000410154" "0000847416" "0000410155" "0000847417" "0000410156" "0000847418" "0000410157" "0000847419" "0000410158" "0000847420" "0000410159" "0000847421" "0000410160" "0000847422" "0000410161" "0000847423" "0000410162" "0000847424" "0000410163" "0000847425" "0000410164" "0000847426" "0000410165" "0000847427" "0000410171" "0000847433" "0000410172" "0000847434" "0000410173" "0000847435" "0000410174" "0000847436" "0000410175" "0000847437" "0000410176" "0000847438" "0000410177" "0000847439" "0000410178" "0000847440" "0000416468" "0000874573" "0000416469" "0000874574" "0000416470" "0000874575" "0000431290" "0000916368" "0000441892" "0000939834" "0000445932" "0000954141" "0000448900" "0000958668" "0000470216" "0001058319" "0000470217" "0001058320" "0000470218" "0001058321" "0000470219" "0001058322" "0000470220" "0001058323"