### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = RBPJ)
# 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}}"
"RBPJ"	"recombination signal binding protein for immunoglobulin kappa J region"	"4"	"p15.2"	"unknown"	"NG_030343.1"	"UD_136021965365"	""	"http://www.LOVD.nl/RBPJ"	""	"1"	"5724"	"3516"	"147183"	"1"	"1"	"1"	"1"	""	""	"g"	"http://databases.lovd.nl/shared/refseq/RBPJ_codingDNA.html"	"1"	""	""	"-1"	""	"-1"	"00001"	"2013-05-03 00:00:00"	"00006"	"2015-02-08 20:43:18"	"00000"	"2025-11-01 13:22:20"


## 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}}"
"00024015"	"RBPJ"	"transcript variant 1"	"001"	"NM_005349.3"	""	"NP_005340.2"	""	""	""	"-236"	"5627"	"1503"	"26321332"	"26436753"	"00006"	"2015-02-08 20:41:20"	""	""


## 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"
"00899"	"AOS3"	"Adams-Oliver syndrome, type 3 (AOS-3)"	"AD"	"614814"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-10 21:51:32"
"04179"	"AOS"	"Adams-Oliver syndrome (AOS)"	""	""	""	""	""	"00006"	"2015-02-07 15:59:17"	"00006"	"2015-03-13 12:45:54"


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}"	"{{diseaseid}}"
"RBPJ"	"00899"


## Individuals ## Do not remove or alter this header ##
## Count = 4
"{{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}}"
"00029801"	""	""	""	"2"	""	"00006"	"{PMID:Hassed 2012:22883147}, {DOI:Hassed 2012:10.1016/j.ajhg.2012.07.005}"	"3-generation family, affected father/daugther (III.1)"	"F"	"no"	"United States"	""	"0"	""	""	""	""
"00029802"	""	""	""	"8"	""	"00006"	"{PMID:Hassed 2012:22883147}, {DOI:Hassed 2012:10.1016/j.ajhg.2012.07.005}"	"3-generation family, 8 affecteds (4F, 4M), patient II.3"	"F"	"no"	"United States"	""	"0"	""	""	""	""
"00293612"	""	""	""	"32"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00304994"	""	""	""	"2"	""	"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 = 4
"{{individualid}}"	"{{diseaseid}}"
"00029801"	"04179"
"00029802"	"04179"
"00293612"	"00198"
"00304994"	"00198"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00198, 00899, 04179
## Count = 2
"{{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}}"
"0000025774"	"04179"	"00029801"	"00006"	"Familial, autosomal recessive"	"00y00m00d"	"see paper; syndactyly 2nd/3rd toes, otherwise normal, short palpebral fissures, mildly delayed gross motor milestones, microcephaly, aplasia cutis congenita scalp (HP:0007385)"	""	""	""	""	""	""	""	""	""	""	""
"0000025775"	"04179"	"00029802"	"00006"	"Familial, autosomal dominant"	""	"see paper; shortened distal phalanges left hand, bilateral reduction toes, no intellectual disability"	""	""	""	""	""	""	""	""	""	""	""


## Screenings ## Do not remove or alter this header ##
## Count = 4
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000029844"	"00029801"	"1"	"00006"	"00006"	"2015-02-08 20:55:14"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000029845"	"00029802"	"1"	"00006"	"00006"	"2015-02-08 21:01:19"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000294780"	"00293612"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000306123"	"00304994"	"1"	"03575"	"00006"	"2020-06-24 11:55:42"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 2
"{{screeningid}}"	"{{geneid}}"
"0000029844"	"RBPJ"
"0000029845"	"RBPJ"


## 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 = 18
"{{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}}"
"0000055936"	"0"	"90"	"4"	"26407886"	"26407886"	"subst"	"0"	"00006"	"RBPJ_000001"	"g.26407886A>G"	""	"{PMID:Hassed 2012:22883147}, {DOI:Hassed 2012:10.1016/j.ajhg.2012.07.005}, {OMIM147183:0001}"	""	""	""	"Unknown"	"yes"	"rs387907270"	"0"	""	""	"g.26406264A>G"	""	"pathogenic"	""
"0000055937"	"10"	"90"	"4"	"26422317"	"26422317"	"subst"	"0"	"00006"	"RBPJ_000002"	"g.26422317A>G"	""	"{PMID:Hassed 2012:22883147}, {DOI:Hassed 2012:10.1016/j.ajhg.2012.07.005}, {OMIM147183:0002}"	""	""	""	"Germline"	"yes"	"rs387907271"	"0"	""	""	"g.26420695A>G"	""	"pathogenic"	""
"0000297623"	"0"	"10"	"4"	"26417136"	"26417136"	"subst"	"0.572094"	"02325"	"RBPJ_000003"	"g.26417136T>C"	""	""	""	"RBPJ(NM_203284.3):c.192T>C (p.S64=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.26415514T>C"	""	"benign"	""
"0000609191"	"0"	"30"	"4"	"26321518"	"26321518"	"subst"	"0"	"01943"	"RBPJ_000004"	"g.26321518G>A"	""	""	""	"RBPJ(NM_005349.3):c.-58+8G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.26319896G>A"	""	"likely benign"	""
"0000609192"	"0"	"30"	"4"	"26432497"	"26432497"	"subst"	"0.00121488"	"01943"	"RBPJ_000005"	"g.26432497A>G"	""	""	""	"RBPJ(NM_203284.2):c.1329A>G (p.A443=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.26430875A>G"	""	"likely benign"	""
"0000651469"	"1"	"10"	"4"	"26361568"	"26361568"	"subst"	"0"	"03575"	"RBPJ_000006"	"g.26361568G>A"	"32/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"32 heterozygous; {DB:CLININrs73245775}"	"Germline"	""	"rs73245775"	"0"	""	""	"g.26359946G>A"	""	"benign"	""
"0000655137"	"0"	"50"	"4"	"26322438"	"26322438"	"subst"	"0"	"02327"	"RBPJ_000007"	"g.26322438G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.26320816G>A"	""	"VUS"	""
"0000669811"	"3"	"10"	"4"	"26361568"	"26361568"	"subst"	"0"	"03575"	"RBPJ_000006"	"g.26361568G>A"	"2/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"2 homozygous; {DB:CLININrs73245775}"	"Germline"	""	"rs73245775"	"0"	""	""	"g.26359946G>A"	""	"benign"	""
"0000689287"	"0"	"50"	"4"	"26431640"	"26431640"	"subst"	"0"	"02325"	"RBPJ_000008"	"g.26431640C>A"	""	""	""	"RBPJ(NM_005349.4):c.1048C>A (p.P350T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000719888"	"0"	"30"	"4"	"26322320"	"26322320"	"subst"	"0"	"01943"	"RBPJ_000009"	"g.26322320A>C"	""	""	""	"RBPJ(NM_001374400.1):c.-57-2A>C, RBPJ(NM_005349.3):c.-57-2A>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000801627"	"0"	"30"	"4"	"26364238"	"26364238"	"subst"	"8.12407E-6"	"01804"	"RBPJ_000010"	"g.26364238C>T"	""	""	""	"RBPJ(NM_203284.2):c.5C>T (p.(Ala2Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000886256"	"0"	"50"	"4"	"26430390"	"26430390"	"subst"	"0"	"02325"	"RBPJ_000011"	"g.26430390C>T"	""	""	""	"RBPJ(NM_005349.4):c.835C>T (p.P279S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000912108"	"0"	"30"	"4"	"26431638"	"26431638"	"subst"	"0.000292538"	"01804"	"RBPJ_000012"	"g.26431638C>T"	""	""	""	"RBPJ(NM_005349.3):c.1046C>T (p.(Ala349Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000976266"	"0"	"30"	"4"	"26322320"	"26322320"	"subst"	"0"	"01804"	"RBPJ_000009"	"g.26322320A>C"	""	""	""	"RBPJ(NM_001374400.1):c.-57-2A>C, RBPJ(NM_005349.3):c.-57-2A>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000976267"	"0"	"30"	"4"	"26431515"	"26431515"	"subst"	"8.15062E-6"	"01804"	"RBPJ_000014"	"g.26431515A>G"	""	""	""	"RBPJ(NM_015874.6):c.889-5A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000994254"	"0"	"30"	"4"	"26388000"	"26388000"	"subst"	"1.68435E-5"	"01804"	"RBPJ_000015"	"g.26388000A>G"	""	""	""	"RBPJ(NM_015874.4):c.46A>G (p.(Lys16Glu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001034511"	"0"	"30"	"4"	"26211307"	"26211307"	"subst"	"0"	"01804"	"RBPJ_000016"	"g.26211307C>T"	""	""	""	"RBPJ(NM_001374401.1):c.-167+46071C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001051718"	"0"	"50"	"4"	"26407810"	"26407810"	"subst"	"0.000126149"	"01804"	"RBPJ_000017"	"g.26407810A>G"	""	""	""	"RBPJ(NM_015874.6):c.73A>G (p.(Asn25Asp))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"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 RBPJ
## Count = 18
"{{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}}"
"0000055936"	"00024015"	"90"	"188"	"0"	"188"	"0"	"c.188A>G"	"r.(?)"	"p.(Glu63Gly)"	"4"
"0000055937"	"00024015"	"90"	"505"	"0"	"505"	"0"	"c.505A>G"	"r.(?)"	"p.(Lys169Glu)"	"6"
"0000297623"	"00024015"	"10"	"234"	"0"	"234"	"0"	"c.234T>C"	"r.(?)"	"p.(Ser78=)"	""
"0000609191"	"00024015"	"30"	"-58"	"8"	"-58"	"8"	"c.-58+8G>A"	"r.(=)"	"p.(=)"	""
"0000609192"	"00024015"	"30"	"1371"	"0"	"1371"	"0"	"c.1371A>G"	"r.(?)"	"p.(Ala457=)"	""
"0000651469"	"00024015"	"10"	"60"	"-26407"	"60"	"-26407"	"c.60-26407G>A"	"r.(=)"	"p.(=)"	""
"0000655137"	"00024015"	"50"	"59"	"1"	"59"	"1"	"c.59+1G>A"	"r.spl?"	"p.?"	""
"0000669811"	"00024015"	"10"	"60"	"-26407"	"60"	"-26407"	"c.60-26407G>A"	"r.(=)"	"p.(=)"	""
"0000689287"	"00024015"	"50"	"1048"	"0"	"1048"	"0"	"c.1048C>A"	"r.(?)"	"p.(Pro350Thr)"	""
"0000719888"	"00024015"	"30"	"-57"	"-2"	"-57"	"-2"	"c.-57-2A>C"	"r.spl?"	"p.?"	""
"0000801627"	"00024015"	"30"	"60"	"-23737"	"60"	"-23737"	"c.60-23737C>T"	"r.(=)"	"p.(=)"	""
"0000886256"	"00024015"	"50"	"835"	"0"	"835"	"0"	"c.835C>T"	"r.(?)"	"p.(Pro279Ser)"	""
"0000912108"	"00024015"	"30"	"1046"	"0"	"1046"	"0"	"c.1046C>T"	"r.(?)"	"p.(Ala349Val)"	""
"0000976266"	"00024015"	"30"	"-57"	"-2"	"-57"	"-2"	"c.-57-2A>C"	"r.spl?"	"p.?"	""
"0000976267"	"00024015"	"30"	"928"	"-5"	"928"	"-5"	"c.928-5A>G"	"r.spl?"	"p.?"	""
"0000994254"	"00024015"	"30"	"85"	"0"	"85"	"0"	"c.85A>G"	"r.(?)"	"p.(Lys29Glu)"	""
"0001034511"	"00024015"	"30"	"-110261"	"0"	"-110261"	"0"	"c.-110261C>T"	"r.(?)"	"p.(=)"	""
"0001051718"	"00024015"	"50"	"112"	"0"	"112"	"0"	"c.112A>G"	"r.(?)"	"p.(Asn38Asp)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 4
"{{screeningid}}"	"{{variantid}}"
"0000029844"	"0000055936"
"0000029845"	"0000055937"
"0000294780"	"0000651469"
"0000306123"	"0000669811"