### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = RAX2) # 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}}" "RAX2" "retina and anterior neural fold homeobox 2" "19" "p13.3" "unknown" "NG_011565.1" "UD_132085411104" "" "https://www.LOVD.nl/RAX2" "" "1" "18286" "84839" "610362" "1" "1" "1" "1" "This database is one of the \"Eye disease\" gene variant databases.\r\nEstablishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/RAX2_codingDNA.html" "1" "" "This database is one of the \"Eye disease\" gene variant databases." "-1" "" "-1" "00001" "2012-07-16 00:00:00" "00006" "2020-11-26 19:05:20" "00006" "2026-05-25 15:42:54" ## 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}}" "00017481" "RAX2" "retina and anterior neural fold homeobox 2" "001" "NM_032753.3" "" "NP_116142.1" "" "" "" "-68" "2087" "555" "3772219" "3769087" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 7 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "02937" "CORD11" "dystrophy, cone-rod, type 11 (CORD-11)" "AD" "610381" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03419" "ARMD6" "macular degeneration, age-related, type 6" "" "613757" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2026-03-06 19:16:22" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "04249" "macular dystrophy" "dystrophy, macular" "" "" "" "" "" "00006" "2015-05-04 22:10:58" "00006" "2024-02-15 21:18:39" "04641" "RP95" "retinitis pigmentosa, type 95" "AR" "620102" "" "" "" "00000" "2015-09-23 10:25:23" "00006" "2026-06-27 17:25:10" "05412" "maculopathy" "maculopathy" "" "" "" "" "" "00006" "2018-03-23 12:21:26" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "RAX2" "02937" "RAX2" "03419" "RAX2" "04641" ## Individuals ## Do not remove or alter this header ## ## Count = 22 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00100098" "" "" "" "1" "" "01769" "{PMID:Maranha 2015:26352687}, {DOI:Maranhao 2015:10.1371/journal.pone.0136561}, {PMID:Li 2017:28418496}" "" "M" "yes" "Pakistan" "" "0" "" "" "Pakistani" "PKRD176;61176" "00292098" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00335989" "" "" "" "1" "" "00000" "{PMID:Sergouniotis 2016:27628848}" "analysis 486 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00358982" "" "" "" "1" "" "00000" "{PMID:Tiwari 2016:27353947}" "see paper" "M" "" "Switzerland" "" "0" "" "" "" "Case71780" "00382139" "" "" "" "1" "" "00000" "{PMID:Patel 2019:30653986}" "" "?" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "269" "00390039" "" "" "" "1" "" "00000" "{PMID:Liu 2020:32562694}" "" "?" "" "China" "" "0" "" "" "" "G1507" "00413792" "" "" "" "1" "" "00000" "{PMID:Wang-2004:15028672}" "" "" "" "" "" "0" "" "" "" "" "00413793" "" "" "" "1" "" "00000" "{PMID:Wang-2004:15028672}" "" "" "" "" "" "0" "" "" "" "" "00413794" "" "" "" "1" "" "00000" "{PMID:Wang-2004:15028672}" "" "" "" "" "" "0" "" "" "" "" "00413795" "" "" "" "1" "" "00000" "{PMID:Yang-2015:25789692}" "" "F" "" "United States" "" "0" "" "" "" "PatientIV-4" "00413796" "" "" "" "1" "" "00000" "{PMID:Yang-2015:25789692}" "" "M" "" "United States" "" "0" "" "" "" "PatientIII-12" "00413797" "" "" "" "1" "" "00000" "{PMID:Yang-2015:25789692}" "brother of III-4 and III-12" "M" "" "United States" "" "0" "" "" "" "Patient III-5" "00413798" "" "" "" "1" "" "00000" "{PMID:Van de Sompele-2019:30377383}" "" "F" "" "" "" "0" "" "" "European" "Patient I" "00413799" "" "" "" "1" "" "00000" "{PMID:Van de Sompele-2019:30377383}" "" "M" "" "" "" "0" "" "" "European" "Patient II" "00413800" "" "" "" "1" "" "00000" "{PMID:Van de Sompele-2019:30377383}" "" "F" "" "" "" "0" "" "" "European" "Patient lll" "00413801" "" "" "" "1" "" "00000" "{PMID:Van de Sompele-2019:30377383}" "" "F" "" "" "" "0" "" "" "European" "Patient lV" "00413802" "" "" "" "1" "" "00000" "{PMID:Van de Sompele-2019:30377383}" "" "F" "" "" "" "0" "" "" "European" "Patient V" "00413803" "" "" "" "1" "" "00000" "{PMID:Van de Sompele-2019:30377383}" "" "M" "" "" "" "0" "" "" "European" "Patient VI" "00447379" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "F" "" "Germany" "" "0" "" "" "" "STGD-430" "00447674" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "M" "" "Germany" "" "0" "" "" "" "MDS-307" "00450970" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "M" "" "" "" "0" "" "" "" "073197" "00479911" "" "" "" "5" "" "00006" "{PMID:Van Vooren 2024:40985799}" "4-generation family, 5 affected (4F, M)" "F" "" "Belgium" "" "0" "" "" "" "Fam3PatII2" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 22 "{{individualid}}" "{{diseaseid}}" "00100098" "04214" "00292098" "00198" "00335989" "04214" "00358982" "04214" "00382139" "02937" "00390039" "04214" "00413792" "04214" "00413793" "04214" "00413794" "04214" "00413795" "04214" "00413796" "04214" "00413797" "04214" "00413798" "04214" "00413799" "04214" "00413800" "04214" "00413801" "04214" "00413802" "04214" "00413803" "04214" "00447379" "00198" "00447674" "00198" "00450970" "04249" "00479911" "05412" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 02937, 03419, 04214, 04249, 04641, 05412 ## Count = 20 "{{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/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000253904" "04214" "00335989" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000254280" "04214" "00358982" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "macular dystrophy" "" "0000275981" "02937" "00382139" "00000" "Familial, autosomal dominant" "" "retinal dystrophy; MIM, 610381" "" "" "" "" "" "" "" "" "MIM, 610381" "" "0000283579" "04214" "00390039" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "early-onset primary angle closure glaucoma" "early-onset primary angle closure glaucoma" "" "0000305757" "04214" "00413792" "00000" "Unknown" "67y" "" "" "" "" "" "" "" "" "" "age-related macular degeneration (AMD)" "" "0000305758" "04214" "00413793" "00000" "Unknown" "78y" "macular degeneration and electroretinographic evidence of peripheral retinal involvement" "" "" "" "" "" "" "" "" "cone-rod dystrophy (CORD)" "" "0000305759" "04214" "00413794" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy (CORD)" "" "0000305760" "04214" "00413795" "00000" "Familial, autosomal dominant" "" "VA: 20/60OD - 20/70OS; attenuated vessels; a few small, yellow, deep macular deposits; and fine granularity of the periphery; development of a waxy discpallor and abull’s eye maculopathy with worsening of vascular attenuation and progressive constriction of the I3e isopter on her kinetic visual field; (more in paper)" "15y" "" "slow progressive decline of her central vision" "" "" "" "" "" "retinal dystrophy" "" "0000305761" "04214" "00413796" "00000" "Familial, autosomal dominant" "" "VA: 20/20 OD and 20/400 OS (his amblyopic eye); waxy disc pallor, attenuated vessels, macular pigment mottling, and granular pigment changes inferiorly below the arcades; (more in paper)" "40y" "" "sensitivity to light, difficulty with night vision, and decreased pericentral and peripheral vision" "" "" "" "" "" "retinal dystrophy" "" "0000305762" "04214" "00413797" "00000" "Familial, autosomal dominant" "" "At 69 VA: 20/200 eccentrically in both eyes; pigment mottling of the macula, which correlated with worse hypoautofluorescent mottling of the macula and hyperautofluorescence of the perimacula; severe dysfunction of both cone and rod-system responses; (more in paper)" "60y" "" "slow progressive loss of vision" "" "" "" "" "" "retinal dystrophy" "" "0000305763" "04214" "00413798" "00000" "Familial, autosomal recessive" "37y" "VA(OD/OS): 7/10–7/10; Pale optic disc, very narrow retinal vessels, peripheral pigmentation; Foveal island with photoreceptorsparing, loss of outer retinal layers outside; ; Mixed red/green blue/yellow color vision deficiency" "30y-39y" "" "" "" "" "" "" "" "nonsyndromic autosomal recessive retinitis pigmentosa (ARRP)" "" "0000305764" "04214" "00413799" "00000" "Familial, autosomal recessive" "22y" "VA(OD/OS): 8/10–7/10; Pale optic disc, narrowed retinal vasculature, limited intraretinal pigmentation; Foveal island with photoreceptor sparing, loss of outer retinal layers outside; Nondetectable rod and cone response, flat ERG ; Moderate red/green color vision deficiency" "" "" "" "" "" "" "" "" "nonsyndromic autosomal recessive retinitis pigmentosa (ARRP)" "" "0000305765" "04214" "00413800" "00000" "Familial, autosomal recessive" "58y" "VA(OD/OS): 4/10–4/10; Rose-colored optic disc, narrowed retinal vessels, rare bone spicule pigmentation; Preserved retinal layers in fovea, small intraretinal cystic changes perifoveal region; Nondetectable rod response, reduced cone response; Perifoveal ring of high density and reduced autofluorescence in the periphery" "30y-39y" "" "" "" "" "" "" "" "nonsyndromic autosomal recessive retinitis pigmentosa (ARRP)" "" "0000305766" "04214" "00413801" "00000" "Familial, autosomal recessive" "61y" "VA(OD/OS): NA–6/10; Pale optic disc, narrowed retinal vasculature, bone spicule pigmentation; Preserved outer retinal layers in macula, disruption of ellipsoid band nasally from foveola; Nondetectable rod response, preservation of cone response; Glaucoma and cataract; enucleation of right eye" "40y-49y" "" "" "" "" "" "" "" "nonsyndromic autosomal recessive retinitis pigmentosa (ARRP)" "" "0000305767" "04214" "00413802" "00000" "Familial, autosomal recessive" "62y" "VA(OD/OS): 1/10–7/10; Pale optic disc, narrow retinal vessels, widespread bone spicule pigmentation; Preserved outer retinal structures in macula, loss of outer nuclear layer in periphery; ; Speckled hypoautofluorescence, central ring of hyperautofluorescence around the macula" "40y-49y" "" "" "" "" "" "" "" "nonsyndromic autosomal recessive retinitis pigmentosa (ARRP)" "" "0000305768" "04214" "00413803" "00000" "Familial, autosomal recessive" "52y" "VA(OD/OS): 10/10–11/10; Pale optic disc, narrow retinal vessels, widespread bone spicule pigmentation; Preserved outer retinal structures in macula, loss of outer nuclear layer in periphery; ; Speckled hypoautofluorescence, central ring of hyperautofluorescence around the macula" "40y-49y" "" "" "" "" "" "" "" "nonsyndromic autosomal recessive retinitis pigmentosa (ARRP)" "" "0000336578" "00198" "00447379" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" "" "0000336873" "00198" "00447674" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "macular dystrophy" "" "0000340025" "04249" "00450970" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" "" "0000364415" "05412" "00479911" "00006" "Familial, autosomal dominant" "75y" "see paper; ..., reduced central vision, (para)central scotoma, photophobia; best-corrected visual acuity 0.52/1.0; ffERG cone-rod dysfunction; pattern dystrophy; bilateral chorioretinal atrophy" "72y" "" "" "" "" "" "" "" "maculopathy" "" ## Screenings ## Do not remove or alter this header ## ## Count = 22 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000100502" "00100098" "1" "01769" "01769" "2017-01-30 18:48:35" "" "" "SEQ" "DNA" "WBC" "" "0000293266" "00292098" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000337219" "00335989" "1" "00000" "00006" "2021-03-10 17:05:56" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000360219" "00358982" "1" "00000" "00006" "2021-03-18 12:15:00" "" "" "SEQ-NG" "DNA" "" "WES" "0000383355" "00382139" "1" "00000" "03840" "2021-09-07 10:12:12" "" "" "SEQ-NG;SEQ" "DNA" "blood" "" "0000391280" "00390039" "1" "00000" "03840" "2021-11-08 12:45:13" "" "" "SEQ-NG-I" "DNA" "blood" "326 selected genes from whole exome sequencing" "0000415072" "00413792" "1" "00000" "00008" "2022-07-22 03:34:11" "" "" "SSCA" "DNA" "" "" "0000415073" "00413793" "1" "00000" "00008" "2022-07-22 03:34:11" "" "" "SSCA" "DNA" "" "" "0000415074" "00413794" "1" "00000" "00008" "2022-07-22 03:34:11" "" "" "SSCA" "DNA" "" "" "0000415075" "00413795" "1" "00000" "00008" "2022-07-22 03:34:11" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000415076" "00413796" "1" "00000" "00008" "2022-07-22 03:34:11" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000415077" "00413797" "1" "00000" "00008" "2022-07-22 03:34:11" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000415078" "00413798" "1" "00000" "00008" "2022-07-22 03:34:11" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000415079" "00413799" "1" "00000" "00008" "2022-07-22 03:34:11" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000415080" "00413800" "1" "00000" "00008" "2022-07-22 03:34:11" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000415081" "00413801" "1" "00000" "00008" "2022-07-22 03:34:11" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000415082" "00413802" "1" "00000" "00008" "2022-07-22 03:34:11" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000415083" "00413803" "1" "00000" "00008" "2022-07-22 03:34:11" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000448956" "00447379" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000449251" "00447674" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000452568" "00450970" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000481557" "00479911" "1" "00006" "00006" "2026-05-25 15:41:53" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 16 "{{screeningid}}" "{{geneid}}" "0000100502" "FAM161A" "0000337219" "RAX2" "0000383355" "RAX2" "0000391280" "RAX2" "0000415072" "RAX2" "0000415073" "RAX2" "0000415074" "RAX2" "0000415075" "RAX2" "0000415076" "RAX2" "0000415077" "RAX2" "0000415078" "RAX2" "0000415079" "RAX2" "0000415080" "RAX2" "0000415081" "RAX2" "0000415082" "RAX2" "0000415083" "RAX2" ## 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 = 45 "{{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}}" "0000254420" "0" "30" "19" "3771696" "3771696" "subst" "0.00601076" "01943" "RAX2_000001" "g.3771696A>C" "" "" "" "RAX2(NM_001319074.4):c.45T>G (p.G15=), RAX2(NM_032753.3):c.45T>G (p.G15=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3771698A>C" "" "likely benign" "" "0000297575" "0" "10" "19" "3771880" "3771880" "subst" "0.629042" "02325" "RAX2_000002" "g.3771880C>T" "" "" "" "RAX2(NM_032753.4):c.-9-131G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3771882C>T" "" "benign" "" "0000306779" "0" "30" "19" "3772023" "3772024" "del" "0" "01943" "RAX2_000004" "g.3772023_3772024del" "" "" "" "RAX2(NM_001319074.1):c.-130-3_-130-2delCA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3772025_3772026del" "" "likely benign" "" "0000306781" "0" "50" "19" "3772153" "3772153" "subst" "0" "01943" "RAX2_000005" "g.3772153G>A" "" "" "" "RAX2(NM_001319074.1):c.-131+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3772155G>A" "" "VUS" "" "0000567079" "0" "50" "19" "3770674" "3770674" "subst" "3.13593E-5" "01943" "MRPL54_000001" "g.3770674C>T" "" "" "" "RAX2(NM_001319074.1):c.638G>A (p.R213Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3770676C>T" "" "VUS" "" "0000567080" "0" "30" "19" "3770742" "3770742" "subst" "0.00123153" "01943" "MRPL54_000002" "g.3770742C>T" "" "" "" "RAX2(NM_001319074.1):c.570G>A (p.A190=), RAX2(NM_001319074.4):c.432G>A (p.A144=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3770744C>T" "" "likely benign" "" "0000567081" "0" "90" "19" "3770844" "3770844" "dup" "0" "01943" "MRPL54_000003" "g.3770844dup" "" "" "" "RAX2(NM_001319074.1):c.473dupC (p.A159Gfs*178)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3770846dup" "" "pathogenic" "" "0000567082" "0" "30" "19" "3772023" "3772024" "dup" "0" "01943" "MRPL54_000004" "g.3772023_3772024dup" "" "" "" "RAX2(NM_001319074.1):c.-130-3_-130-2dupCA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3772025_3772026dup" "" "likely benign" "" "0000617566" "0" "50" "19" "3770881" "3770881" "subst" "3.83924E-5" "01943" "MRPL54_000005" "g.3770881G>A" "" "" "" "RAX2(NM_001319074.1):c.431C>T (p.P144L), RAX2(NM_001319074.4):c.293C>T (p.P98L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3770883G>A" "" "VUS" "" "0000617567" "0" "30" "19" "3771759" "3771759" "subst" "0.000130019" "01943" "MRPL54_000006" "g.3771759C>T" "" "" "" "RAX2(NM_001319074.1):c.120G>A (p.P40=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3771761C>T" "" "likely benign" "" "0000617568" "0" "70" "19" "3771796" "3771796" "dup" "0" "01943" "MRPL54_000007" "g.3771796dup" "" "" "" "RAX2(NM_001319074.1):c.89dupC (p.A31Sfs*74)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3771798dup" "" "likely pathogenic" "" "0000649955" "1" "90" "19" "3770830" "3770830" "subst" "0" "03575" "RAX2_000007" "g.3770830G>T" "1/2765 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs398124431}" "Germline" "" "rs398124431" "0" "" "" "g.3770832G>T" "" "pathogenic" "" "0000692775" "0" "50" "19" "3771688" "3771688" "subst" "0" "01943" "MRPL54_000008" "g.3771688G>A" "" "" "" "RAX2(NM_001319074.1):c.191C>T (p.P64L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000727298" "0" "30" "19" "3770859" "3770859" "subst" "0" "01943" "MRPL54_000009" "g.3770859C>T" "" "" "" "RAX2(NM_001319074.1):c.453G>A (p.A151=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727299" "0" "50" "19" "3770939" "3770939" "subst" "0" "01943" "MRPL54_000010" "g.3770939G>A" "" "" "" "RAX2(NM_001319074.1):c.373C>T (p.R125W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000735191" "3" "70" "19" "3770938" "3770938" "subst" "0" "00000" "RAX2_000008" "g.3770938C>T" "" "{PMID:Maranha 2015:26352687}, {DOI:Maranhao 2015:10.1371/journal.pone.0136561}" "" "" "" "Germline" "" "" "0" "" "" "g.3770940C>T" "" "likely pathogenic" "" "0000736849" "0" "50" "19" "3770761" "3770766" "dup" "0" "00000" "RAX2_000009" "g.3770761_3770766dup" "1/486 individuals" "{PMID:Sergouniotis 2016:27628848}" "" "" "no genotypes reported" "Germline" "" "rs549932754" "0" "" "" "g.3770763_3770768dup" "" "VUS" "" "0000760106" "0" "50" "19" "3771649" "3771649" "subst" "2.0491E-5" "00000" "RAX2_000010" "g.3771649C>T" "" "{PMID:Tiwari 2016:27353947}" "" "" "" "Germline" "" "" "0" "" "" "g.3771651C>T" "" "VUS" "" "0000797416" "0" "70" "19" "3770700" "3770700" "dup" "0" "00000" "RAX2_000011" "g.3770700dup" "" "{PMID:Patel 2019:30653986}" "" "error in annotation, amino acid 114 is not Leu; cDNA annotation also wrong: c.473C-->CG; p.Leu114Alafs*18" "no Sanger sequencing; heterozygous" "Germline" "?" "" "0" "" "" "g.3770702dup" "" "likely pathogenic" "" "0000821016" "0" "70" "19" "3771608" "3771608" "subst" "8.26849E-6" "00000" "RAX2_000012" "g.3771608C>T" "1/64" "{PMID:Liu 2020:32562694}" "" "RAX2 c.133G>A, p.Ala45Thr" "heterozygous" "Germline/De novo (untested)" "?" "rs760640216" "0" "" "" "g.3771610C>T" "" "likely pathogenic" "" "0000855544" "0" "50" "19" "3771533" "3771533" "subst" "0" "01943" "MRPL54_000011" "g.3771533G>A" "" "" "" "RAX2(NM_001319074.1):c.346C>T (p.R116C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000855545" "0" "10" "19" "3771696" "3771696" "subst" "0.00601076" "02330" "RAX2_000001" "g.3771696A>C" "" "" "" "RAX2(NM_001319074.4):c.45T>G (p.G15=), RAX2(NM_032753.3):c.45T>G (p.G15=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000855546" "0" "10" "19" "3771785" "3771785" "subst" "0.00166401" "02330" "MRPL54_000013" "g.3771785C>T" "" "" "" "RAX2(NM_001319074.4):c.-45G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000866050" "0" "50" "19" "3771659" "3771659" "subst" "4.09685E-6" "02330" "MRPL54_000012" "g.3771659G>A" "" "" "" "RAX2(NM_001319074.4):c.82C>T (p.R28W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000872815" "0" "70" "19" "3770914" "3770914" "subst" "0.0001088" "00000" "RAX2_000016" "g.3770914C>T" "" "{PMID:Wang-2004:15028672}" "" "R87Q" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000872816" "0" "70" "19" "3770765" "3770765" "subst" "0" "00000" "RAX2_000015" "g.3770765C>G" "" "{PMID:Wang-2004:15028672}" "" "G137R" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000872817" "0" "70" "19" "3770752" "3770757" "dup" "0" "00000" "RAX2_000009" "g.3770752_3770757dup" "" "{PMID:Wang-2004:15028672}" "" "6 bp (CCCGGG), 140P_141Gdup" "also identified in the proband’s mother and two siblings who are said to have ‘normal’ vision, but were not available for ophthalmologic exam and testing. Hence, the possibility that they have mild CORD cannot be excluded." "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000872818" "0" "70" "19" "3770699" "3770709" "del" "0" "00000" "RAX2_000014" "g.3770699_3770709del" "" "{PMID:Yang-2015:25789692}" "" "c.465_475delCGCAGATGGCT" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000872819" "0" "70" "19" "3770699" "3770709" "del" "0" "00000" "RAX2_000014" "g.3770699_3770709del" "" "{PMID:Yang-2015:25789692}" "" "c.465_475delCGCAGATGGCT" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000872820" "0" "70" "19" "3770699" "3770709" "del" "0" "00000" "RAX2_000014" "g.3770699_3770709del" "" "{PMID:Yang-2015:25789692}" "" "c.465_475delCGCAGATGGCT" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000872821" "3" "90" "19" "3770839" "3770839" "dup" "8.39927E-6" "00000" "MRPL54_000003" "g.3770839dup" "" "{PMID:Van de Sompele-2019:30377383}" "" "c.335dup" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000872822" "3" "90" "19" "3770839" "3770839" "dup" "8.39927E-6" "00000" "MRPL54_000003" "g.3770839dup" "" "{PMID:Van de Sompele-2019:30377383}" "" "c.335dup" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000872823" "3" "90" "19" "3771334" "3774295" "del" "0" "00000" "RAX2_000017" "g.3771334_3774295del" "" "{PMID:Van de Sompele-2019:30377383}" "" "chr19:g.3771337_3774298del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000872824" "3" "70" "19" "3771596" "3771596" "subst" "0" "00000" "RAX2_000019" "g.3771596A>G" "" "{PMID:Van de Sompele-2019:30377383}" "" "c.145T>C" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000872825" "0" "70" "19" "3771586" "3771586" "subst" "0" "00000" "RAX2_000018" "g.3771586G>C" "" "{PMID:Van de Sompele-2019:30377383}" "" "c.155C>G" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000872826" "0" "90" "19" "3765784" "3772916" "del" "0" "00000" "RAX2_000013" "g.3765784_3772916del" "" "{PMID:Van de Sompele-2019:30377383}" "" "chr19: g.3765788_3772920del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000872827" "0" "70" "19" "3771586" "3771586" "subst" "0" "00000" "RAX2_000018" "g.3771586G>C" "" "{PMID:Van de Sompele-2019:30377383}" "" "c.155C>G" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000872828" "0" "90" "19" "3765784" "3772916" "del" "0" "00000" "RAX2_000013" "g.3765784_3772916del" "" "{PMID:Van de Sompele-2019:30377383}" "" "chr19: g.3765788_3772920del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000894946" "0" "30" "19" "3770742" "3770742" "subst" "0.00123153" "02330" "MRPL54_000002" "g.3770742C>T" "" "" "" "RAX2(NM_001319074.1):c.570G>A (p.A190=), RAX2(NM_001319074.4):c.432G>A (p.A144=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000931048" "0" "30" "19" "3771586" "3771586" "subst" "0.0145828" "02330" "MRPL54_000014" "g.3771586G>A" "" "" "" "RAX2(NM_001319074.4):c.155C>T (p.P52L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000959159" "0" "50" "19" "3771665" "3771665" "subst" "5.32577E-5" "00006" "RAX2_000020" "g.3771665T>G" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, BP6" "Germline" "" "" "0" "" "" "g.3771667T>G" "" "VUS" "ACMG" "0000959455" "0" "50" "19" "3770939" "3770939" "subst" "0" "00006" "MRPL54_000010" "g.3770939G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2; no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.3770941G>A" "" "VUS" "ACMG" "0000986551" "1" "90" "19" "3770700" "3770710" "del" "0" "04405" "RAX2_000014" "g.3770700_3770710del" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "603_613del (Ala156Argfs*131)" "" "Germline" "" "" "0" "" "" "g.3770702_3770712del" "" "pathogenic" "ACMG" "0001015790" "0" "30" "19" "3770881" "3770881" "subst" "3.83924E-5" "02330" "MRPL54_000005" "g.3770881G>A" "" "" "" "RAX2(NM_001319074.1):c.431C>T (p.P144L), RAX2(NM_001319074.4):c.293C>T (p.P98L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001078166" "1" "50" "19" "3770761" "3770761" "subst" "5.06954E-5" "00006" "RAX2_000021" "g.3770761G>A" "" "{PMID:Van Vooren 2024:40985799}" "" "" "" "Germline" "" "" "0" "" "" "g.3770763G>A" "" "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 RAX2 ## Count = 45 "{{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}}" "0000254420" "00017481" "30" "45" "0" "45" "0" "c.45T>G" "r.(?)" "p.(Gly15=)" "" "0000297575" "00017481" "10" "-9" "-131" "-9" "-131" "c.-9-131G>A" "r.(=)" "p.(=)" "" "0000306779" "00017481" "30" "-10" "150" "-10" "151" "c.-10+150_-10+151del" "r.(=)" "p.(=)" "" "0000306781" "00017481" "50" "-10" "8" "-10" "8" "c.-10+8C>T" "r.(=)" "p.(=)" "" "0000567079" "00017481" "50" "500" "0" "500" "0" "c.500G>A" "r.(?)" "p.(Arg167Gln)" "" "0000567080" "00017481" "30" "432" "0" "432" "0" "c.432G>A" "r.(?)" "p.(Ala144=)" "" "0000567081" "00017481" "90" "335" "0" "335" "0" "c.335dup" "r.(?)" "p.(Ala113GlyfsTer178)" "" "0000567082" "00017481" "30" "-10" "150" "-10" "151" "c.-10+150_-10+151dup" "r.(=)" "p.(=)" "" "0000617566" "00017481" "50" "293" "0" "293" "0" "c.293C>T" "r.(?)" "p.(Pro98Leu)" "" "0000617567" "00017481" "30" "-9" "-10" "-9" "-10" "c.-9-10G>A" "r.(=)" "p.(=)" "" "0000617568" "00017481" "70" "-9" "-41" "-9" "-41" "c.-9-41dup" "r.(=)" "p.(=)" "" "0000649955" "00017481" "90" "344" "0" "344" "0" "c.344C>A" "r.(?)" "p.(Ser115*)" "" "0000692775" "00017481" "50" "53" "0" "53" "0" "c.53C>T" "r.(?)" "p.(Pro18Leu)" "" "0000727298" "00017481" "30" "315" "0" "315" "0" "c.315G>A" "r.(?)" "p.(Ala105=)" "" "0000727299" "00017481" "50" "235" "0" "235" "0" "c.235C>T" "r.(?)" "p.(Arg79Trp)" "" "0000735191" "00017481" "70" "236" "0" "236" "0" "c.236G>A" "r.(?)" "p.(Arg79Gln)" "" "0000736849" "00017481" "50" "417" "0" "422" "0" "c.417_422dup" "r.(?)" "p.(Pro140_Gly141dup)" "" "0000760106" "00017481" "50" "92" "0" "92" "0" "c.92G>A" "r.(?)" "p.(Arg31His)" "" "0000797416" "00017481" "70" "474" "0" "474" "0" "c.474dup" "r.(?)" "p.(Phe159Leufs*132)" "" "0000821016" "00017481" "70" "133" "0" "133" "0" "c.133G>A" "r.(?)" "p.(Ala45Thr)" "" "0000855544" "00017481" "50" "208" "0" "208" "0" "c.208C>T" "r.(?)" "p.(Arg70Cys)" "" "0000855545" "00017481" "10" "45" "0" "45" "0" "c.45T>G" "r.(?)" "p.(Gly15=)" "" "0000855546" "00017481" "10" "-9" "-36" "-9" "-36" "c.-9-36G>A" "r.(=)" "p.(=)" "" "0000866050" "00017481" "50" "82" "0" "82" "0" "c.82C>T" "r.(?)" "p.(Arg28Trp)" "" "0000872815" "00017481" "70" "260" "0" "260" "0" "c.260G>A" "r.(?)" "p.(Arg87Gln)" "3" "0000872816" "00017481" "70" "409" "0" "409" "0" "c.409G>C" "r.(?)" "p.(Gly137Arg)" "3" "0000872817" "00017481" "70" "417" "0" "422" "0" "c.417_422dup" "r.(?)" "p.(Pro140_Gly141dup)" "3" "0000872818" "00017481" "70" "465" "0" "475" "0" "c.465_475del" "r.(?)" "p.(Ala156Argfs*131)" "3" "0000872819" "00017481" "70" "465" "0" "475" "0" "c.465_475del" "r.(?)" "p.(Ala156Argfs*131)" "3" "0000872820" "00017481" "70" "465" "0" "475" "0" "c.465_475del" "r.(?)" "p.(Ala156Argfs*131)" "3" "0000872821" "00017481" "90" "335" "0" "335" "0" "c.335dup" "r.(?)" "p.(Ala113Glyfs*178)" "3" "0000872822" "00017481" "90" "335" "0" "335" "0" "c.335dup" "r.(?)" "p.(Ala113Glyfs*178)" "3" "0000872823" "00017481" "90" "-2144" "0" "216" "191" "c.-2144_216+191del" "r.?" "p.?" "1_2i" "0000872824" "00017481" "70" "145" "0" "145" "0" "c.145T>C" "r.(?)" "p.(Ser49Pro)" "2" "0000872825" "00017481" "70" "155" "0" "155" "0" "c.155C>G" "r.(?)" "p.(Pro52Arg)" "2" "0000872826" "00017481" "90" "-765" "0" "5390" "0" "c.-765_*4835del" "r.?" "p.?" "1_3" "0000872827" "00017481" "70" "155" "0" "155" "0" "c.155C>G" "r.(?)" "p.(Pro52Arg)" "2" "0000872828" "00017481" "90" "-765" "0" "5390" "0" "c.-765_*4835del" "r.?" "p.?" "1_3" "0000894946" "00017481" "30" "432" "0" "432" "0" "c.432G>A" "r.(?)" "p.(Ala144=)" "" "0000931048" "00017481" "30" "155" "0" "155" "0" "c.155C>T" "r.(?)" "p.(Pro52Leu)" "" "0000959159" "00017481" "50" "76" "0" "76" "0" "c.76A>C" "r.(?)" "p.(Lys26Gln)" "" "0000959455" "00017481" "50" "235" "0" "235" "0" "c.235C>T" "r.(?)" "p.(Arg79Trp)" "" "0000986551" "00017481" "90" "465" "0" "475" "0" "c.465_475del" "r.(?)" "p.(Ala156ArgfsTer131)" "3" "0001015790" "00017481" "30" "293" "0" "293" "0" "c.293C>T" "r.(?)" "p.(Pro98Leu)" "" "0001078166" "00017481" "50" "413" "0" "413" "0" "c.413C>T" "r.(?)" "p.(Pro138Leu)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 24 "{{screeningid}}" "{{variantid}}" "0000100502" "0000735191" "0000293266" "0000649955" "0000337219" "0000736849" "0000360219" "0000760106" "0000383355" "0000797416" "0000391280" "0000821016" "0000415072" "0000872815" "0000415073" "0000872816" "0000415074" "0000872817" "0000415075" "0000872818" "0000415076" "0000872819" "0000415077" "0000872820" "0000415078" "0000872821" "0000415079" "0000872822" "0000415080" "0000872823" "0000415081" "0000872824" "0000415082" "0000872825" "0000415082" "0000872826" "0000415083" "0000872827" "0000415083" "0000872828" "0000448956" "0000959159" "0000449251" "0000959455" "0000452568" "0000986551" "0000481557" "0001078166"