### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = RAD54L)
# 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}}"
"RAD54L"	"RAD54-like (S. cerevisiae)"	"1"	"p32"	"unknown"	"NC_000001.10"	"UD_132085333720"	""	""	""	"1"	"9826"	"8438"	"603615"	"1"	"1"	"1"	"1"	""	""	"g"	"https://databases.lovd.nl/shared/refseq/RAD54L_codingDNA.html"	"1"	""	""	"-1"	""	"-1"	"00001"	"2013-05-03 00:00:00"	"00006"	"2023-11-25 11:33:33"	"00000"	"2025-05-05 21:14:00"


## 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}}"
"00017374"	"RAD54L"	"transcript variant 1"	"001"	"NM_003579.3"	""	"NP_003570.2"	""	""	""	"-711"	"2435"	"2244"	"46713367"	"46744145"	""	"0000-00-00 00:00:00"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 4
"{{id}}"	"{{symbol}}"	"{{name}}"	"{{inheritance}}"	"{{id_omim}}"	"{{tissues}}"	"{{features}}"	"{{remarks}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"00318"	"cancer, breast"	"cancer, breast"	""	""	""	""	""	"00006"	"2014-02-02 14:42:53"	"00006"	"2019-08-28 08:24:47"
"00683"	"cancer, breast"	"cancer, breast, susceptibility"	""	"114480"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-30 17:21:12"
"02530"	"lymphoma"	"lymphoma, non-Hodgkin, familial"	""	"605027"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2023-11-25 11:35:32"
"05793"	"IMD74"	"immunodeficiency, type 74, COVID19-related, X-linked"	"XLR"	"301051"	""	""	""	"00006"	"2020-07-24 22:16:50"	"00006"	"2025-08-26 15:50:59"


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{geneid}}"	"{{diseaseid}}"
"RAD54L"	"00683"
"RAD54L"	"02530"


## Individuals ## Do not remove or alter this header ##
## Count = 3
"{{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}}"
"00334302"	""	""	""	"1"	""	"04011"	"{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}"	"analysis 233 patients"	""	""	"China"	""	""	""	""	""	""
"00334530"	""	""	""	"1"	""	"04011"	"{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}"	"analysis 233 patients"	""	""	"China"	""	""	""	""	""	""
"00443346"	""	""	""	"1"	""	"04339"	""	""	"M"	"no"	"Mexico"	""	""	""	""	""	""


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 3
"{{individualid}}"	"{{diseaseid}}"
"00334302"	"05793"
"00334530"	"05793"
"00443346"	"00318"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00318, 00683, 02530, 05793
## Count = 3
"{{id}}"	"{{diseaseid}}"	"{{individualid}}"	"{{owned_by}}"	"{{Phenotype/Inheritance}}"	"{{Phenotype/Age}}"	"{{Phenotype/Additional}}"	"{{Phenotype/Age/Onset}}"	"{{Phenotype/Age/Diagnosis}}"	"{{Phenotype/Onset}}"	"{{Phenotype/Protein}}"	"{{Phenotype/Enzyme/CPK}}"	"{{Phenotype/Heart/Myocardium}}"	"{{Phenotype/Lung}}"	"{{Phenotype/Diagnosis/Definite}}"	"{{Phenotype/Diagnosis/Initial}}"	"{{Phenotype/Diagnosis/Criteria}}"
"0000253112"	"05793"	"00334302"	"04011"	"Unknown"	""	"hospitalized after COVID-19 infection,"	""	""	""	""	""	""	""	""	"COVID-19"	""
"0000253223"	"05793"	"00334530"	"04011"	"Unknown"	""	"hospitalized after COVID-19 infection,"	""	""	""	""	""	""	""	""	"COVID-19"	""
"0000332693"	"00318"	"00443346"	"04339"	"Unknown"	""	""	""	"62y"	"62y"	"mendezcatalacf"	""	""	""	"Mucinous Breast Carcinoma"	"62y"	""


## Screenings ## Do not remove or alter this header ##
## Count = 3
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000335529"	"00334302"	"1"	"04011"	"04011"	"2021-02-27 06:26:24"	"00006"	"2021-03-05 11:31:40"	"SEQ-NG"	"DNA"	"PBMC"	"WES"
"0000335758"	"00334530"	"1"	"04011"	"04011"	"2021-03-01 11:55:33"	"00006"	"2021-03-05 11:31:40"	"SEQ-NG"	"DNA"	"PBMC"	"WES"
"0000444830"	"00443346"	"1"	"04339"	"04339"	"2023-11-25 02:28:42"	""	""	"SEQ-NG-I"	"DNA"	"peripheral blood"	"WES"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 1
"{{screeningid}}"	"{{geneid}}"
"0000444830"	"RAD54L"


## 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}}"
"0000654059"	"0"	"50"	"1"	"46727058"	"46727058"	"subst"	"4.06227E-6"	"02327"	"RAD54L_000002"	"g.46727058G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.46261386G>A"	""	"VUS"	""
"0000733991"	"0"	"70"	"1"	"46726501"	"46726501"	"subst"	"1.62596E-5"	"04011"	"RAD54L_000003"	"g.46726501A>C"	""	"{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}"	""	""	""	"Germline"	""	""	""	""	""	""	""	"VUS"	""
"0000734596"	"0"	"70"	"1"	"46740268"	"46740268"	"subst"	"0.000430786"	"04011"	"RAD54L_000004"	"g.46740268T>C"	""	"{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}"	""	""	""	"Germline"	""	""	""	""	""	""	""	"VUS"	""
"0000946764"	"0"	"70"	"1"	"46726525"	"46726525"	"subst"	"0.00305634"	"04339"	"RAD54L_000005"	"g.46726525C>T"	""	""	""	""	""	"Germline"	"?"	""	"0"	""	""	"g.46260853C>T"	""	"VUS"	"ACMG"
"0001032107"	"0"	"30"	"1"	"46726525"	"46726525"	"subst"	"0.00305634"	"01804"	"RAD54L_000005"	"g.46726525C>T"	""	""	""	"RAD54L(NM_003579.4):c.604C>T (p.(Arg202Cys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001032108"	"0"	"30"	"1"	"46739327"	"46739327"	"subst"	"0.000816721"	"01804"	"RAD54L_000006"	"g.46739327G>A"	""	""	""	"RAD54L(NM_003579.4):c.1518G>A (p.(Ala506=))"	"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 RAD54L
## 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}}"
"0000654059"	"00017374"	"50"	"891"	"1"	"891"	"1"	"c.891+1G>A"	"r.spl?"	"p.?"	""
"0000733991"	"00017374"	"50"	"580"	"0"	"580"	"0"	"c.580A>C"	"r.(?)"	"p.(Ile194Leu)"	""
"0000734596"	"00017374"	"50"	"1748"	"0"	"1748"	"0"	"c.1748T>C"	"r.(?)"	"p.(Ile583Thr)"	""
"0000946764"	"00017374"	"70"	"604"	"0"	"604"	"0"	"c.604C>T"	"r.(?)"	"p.(Arg202Cys)"	""
"0001032107"	"00017374"	"30"	"604"	"0"	"604"	"0"	"c.604C>T"	"r.(?)"	"p.(Arg202Cys)"	""
"0001032108"	"00017374"	"30"	"1518"	"0"	"1518"	"0"	"c.1518G>A"	"r.(?)"	"p.(=)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 3
"{{screeningid}}"	"{{variantid}}"
"0000335529"	"0000733991"
"0000335758"	"0000734596"
"0000444830"	"0000946764"