### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = PLA2G5)
# 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}}"
"PLA2G5" "phospholipase A2, group V" "1" "p36-p34" "unknown" "NG_032045.1" "UD_132455674039" "" "https://www.LOVD.nl/PLA2G5" "" "1" "9038" "5322" "601192" "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/PLA2G5_codingDNA.html" "1" "" "This database is one of the \"Eye disease\" gene variant databases." "-1" "" "-1" "00001" "2012-07-13 00:00:00" "00006" "2020-11-25 19:49:32" "00000" "2026-01-20 18:57:21"
## 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}}"
"00016271" "PLA2G5" "phospholipase A2, group V" "001" "NM_000929.2" "" "NP_000920.1" "" "" "" "-268" "1626" "417" "20396701" "20418394" "" "0000-00-00 00:00:00" "" ""
## Diseases ## Do not remove or alter this header ##
## Count = 3
"{{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"
"01788" "FRFB" "Fleck retina, familial benign (FRFB)" "AR" "228980" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-11-25 19:50:19"
"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 = 1
"{{geneid}}" "{{diseaseid}}"
"PLA2G5" "01788"
## Individuals ## Do not remove or alter this header ##
## Count = 2
"{{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}}"
"00155524" "" "" "" "1" "" "01243" "{PMID:Beryozkin 2015:26306921}, {PMID:Sharon 2019:31456290}" "family" "M" "yes" "Israel" "" "0" "" "" "Arab-Muslim" "MOL0635"
"00289664" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{individualid}}" "{{diseaseid}}"
"00155524" "04214"
"00289664" "00198"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00198, 01788, 04214
## Count = 1
"{{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}}"
"0000128024" "04214" "00155524" "01243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
## Screenings ## Do not remove or alter this header ##
## Count = 2
"{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}"
"0000156389" "00155524" "1" "01243" "01243" "2018-03-18 14:37:15" "" "" "SEQ" "DNA" "" ""
"0000290832" "00289664" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 1
"{{screeningid}}" "{{geneid}}"
"0000156389" "PLA2G5"
## 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 = 11
"{{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}}"
"0000293865" "0" "10" "1" "20417080" "20417080" "subst" "0.00121601" "02330" "PLA2G5_000002" "g.20417080T>C" "" "" "" "PLA2G5(NM_000929.2):c.312T>C (p.H104=), PLA2G5(NM_000929.3):c.312T>C (p.H104=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20090587T>C" "" "benign" ""
"0000293866" "0" "50" "1" "20417136" "20417136" "subst" "0.00049959" "02330" "PLA2G5_000003" "g.20417136G>A" "" "" "" "PLA2G5(NM_000929.3):c.368G>A (p.R123Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20090643G>A" "" "VUS" ""
"0000297047" "0" "10" "1" "20411332" "20411332" "subst" "0.326348" "02325" "PLA2G5_000001" "g.20411332C>T" "" "" "" "PLA2G5(NM_000929.3):c.9C>T (p.G3=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20084839C>T" "" "benign" ""
"0000305801" "0" "30" "1" "20417080" "20417080" "subst" "0.00121601" "01943" "PLA2G5_000002" "g.20417080T>C" "" "" "" "PLA2G5(NM_000929.2):c.312T>C (p.H104=), PLA2G5(NM_000929.3):c.312T>C (p.H104=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20090587T>C" "" "likely benign" ""
"0000339628" "0" "10" "1" "20411332" "20411332" "subst" "0.326348" "02327" "PLA2G5_000001" "g.20411332C>T" "" "" "" "PLA2G5(NM_000929.3):c.9C>T (p.G3=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20084839C>T" "" "benign" ""
"0000346088" "0" "70" "1" "20412668" "20412668" "subst" "6.90967E-5" "02327" "PLA2G5_000004" "g.20412668G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20086175G>T" "" "likely pathogenic" ""
"0000358311" "3" "90" "1" "20416376" "20416376" "dup" "0" "01243" "PLA2G5_000005" "g.20416376dup" "" "{PMID:Beryozkin 2015:26306921}, {PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "279_280insG" "g.20089883dup" "" "pathogenic (recessive)" ""
"0000504926" "0" "30" "1" "20411347" "20411347" "subst" "0" "02330" "PLA2G5_000006" "g.20411347T>C" "" "" "" "PLA2G5(NM_000929.3):c.24T>C (p.A8=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20084854T>C" "" "likely benign" ""
"0000504928" "0" "10" "1" "20412643" "20412643" "subst" "0.00024372" "02330" "PLA2G5_000007" "g.20412643C>T" "" "" "" "PLA2G5(NM_000929.3):c.108C>T (p.N36=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20086150C>T" "" "benign" ""
"0000647521" "1" "90" "1" "20412668" "20412668" "subst" "6.90967E-5" "03575" "PLA2G5_000004" "g.20412668G>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs387906795.1}" "Germline" "" "rs387906795" "0" "" "" "g.20086175G>T" "" "pathogenic" ""
"0001062989" "0" "30" "1" "20416376" "20416376" "subst" "0" "02325" "PLA2G5_000008" "g.20416376G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
## 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 PLA2G5
## Count = 11
"{{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}}"
"0000293865" "00016271" "10" "312" "0" "312" "0" "c.312T>C" "r.(?)" "p.(His104=)" ""
"0000293866" "00016271" "50" "368" "0" "368" "0" "c.368G>A" "r.(?)" "p.(Arg123Gln)" ""
"0000297047" "00016271" "10" "9" "0" "9" "0" "c.9C>T" "r.(?)" "p.(Gly3=)" ""
"0000305801" "00016271" "30" "312" "0" "312" "0" "c.312T>C" "r.(?)" "p.(His104=)" ""
"0000339628" "00016271" "10" "9" "0" "9" "0" "c.9C>T" "r.(?)" "p.(Gly3=)" ""
"0000346088" "00016271" "70" "133" "0" "133" "0" "c.133G>T" "r.(?)" "p.(Gly45Cys)" ""
"0000358311" "00016271" "90" "280" "0" "280" "0" "c.280dup" "r.(?)" "p.(Val94Glyfs*18)" "10"
"0000504926" "00016271" "30" "24" "0" "24" "0" "c.24T>C" "r.(?)" "p.(Ala8=)" ""
"0000504928" "00016271" "10" "108" "0" "108" "0" "c.108C>T" "r.(?)" "p.(Asn36=)" ""
"0000647521" "00016271" "90" "133" "0" "133" "0" "c.133G>T" "r.(?)" "p.(Gly45Cys)" ""
"0001062989" "00016271" "30" "280" "0" "280" "0" "c.280G>C" "r.(?)" "p.(Val94Leu)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 2
"{{screeningid}}" "{{variantid}}"
"0000156389" "0000358311"
"0000290832" "0000647521"