### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = OVOL2) # 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}}" "OVOL2" "ovo-like 2 (Drosophila)" "20" "q11.21-q11.23" "unknown" "NG_046859.1" "UD_133490692074" "" "https://www.LOVD.nl/OVOL2" "" "1" "15804" "58495" "616441" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/OVOL2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2018-03-24 15:25:46" "00000" "2024-04-19 20:27:30" ## 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}}" "00015533" "OVOL2" "ovo-like 2 (Drosophila)" "001" "NM_021220.2" "" "NP_067043.2" "" "" "" "-243" "1312" "828" "18038521" "18004796" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "01030" "PPCD1" "dystrophy, corneal, posterior polymorphous, type 1 (PPCD-1)" "AD" "122000" "" "autosomal dominant" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05413" "PPCD" "dystrophy, corneal, posterior polymorphous (PPCD)" "" "" "" "" "" "00006" "2018-03-24 15:20:11" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "OVOL2" "01030" "OVOL2" "05413" ## Individuals ## Do not remove or alter this header ## ## Count = 0 ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 01030, 05413 ## Count = 0 ## Screenings ## Do not remove or alter this header ## ## Count = 0 ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 0 ## 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 = 6 "{{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}}" "0000250530" "0" "50" "20" "18005570" "18005570" "del" "0" "02329" "OVOL2_000001" "g.18005570del" "" "" "" "OVOL2(NM_021220.4):c.538delT (p.C180Afs*15)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18024926del" "" "VUS" "" "0000298772" "0" "50" "20" "18022242" "18022242" "subst" "0" "02329" "OVOL2_000002" "g.18022242G>T" "" "" "" "OVOL2(NM_021220.4):c.447C>A (p.C149*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18041598G>T" "" "VUS" "" "0000727613" "0" "50" "20" "18005591" "18005591" "subst" "1.23945E-5" "02329" "OVOL2_000003" "g.18005591G>A" "" "" "" "OVOL2(NM_021220.4):c.517C>T (p.R173C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000866387" "0" "70" "20" "18038552" "18038552" "subst" "0" "02327" "OVOL2_000005" "g.18038552A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000866388" "0" "90" "20" "18038585" "18038585" "subst" "0" "02327" "OVOL2_000006" "g.18038585A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000866389" "0" "90" "20" "18038648" "18038648" "subst" "0" "02327" "OVOL2_000007" "g.18038648A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" ## 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 OVOL2 ## Count = 6 "{{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}}" "0000250530" "00015533" "50" "538" "0" "538" "0" "c.538del" "r.(?)" "p.(Cys180AlafsTer15)" "" "0000298772" "00015533" "50" "447" "0" "447" "0" "c.447C>A" "r.(?)" "p.(Cys149Ter)" "" "0000727613" "00015533" "50" "517" "0" "517" "0" "c.517C>T" "r.(?)" "p.(Arg173Cys)" "" "0000866387" "00015533" "70" "-274" "0" "-274" "0" "c.-274T>G" "r.(?)" "p.(=)" "" "0000866388" "00015533" "90" "-307" "0" "-307" "0" "c.-307T>C" "r.(?)" "p.(=)" "" "0000866389" "00015533" "90" "-370" "0" "-370" "0" "c.-370T>C" "r.(?)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0