### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = RNU5B-1) # 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}}" "RNU5B-1" "RNA, U5B small nuclear 1" "15" "q22" "unknown" "NC_000015.9" "UD_136090703094" "" "https://www.LOVD.nl/RNU5B-1" "" "1" "10212" "26832" "621090" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2025-09-30 17:54:53" "00006" "2025-10-09 14:50:07" ## 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}}" "00017973" "RNU5B-1" "RNA, U5B small nuclear 1" "001" "NR_002757.3" "" "" "" "" "" "1" "117" "117" "65597015" "65597131" "" "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}}" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "07183" "NEDSJL" "neurodevelopmental disorder with seizures and joint laxity" "AD" "621302" "" "" "" "00006" "2025-09-30 18:00:59" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "RNU5B-1" "05611" "RNU5B-1" "07183" ## Individuals ## Do not remove or alter this header ## ## Count = 10 "{{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}}" "00467074" "" "" "" "1" "" "00006" "{PMID:Jackson 2025:40442284}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "5B-Pat1" "00467075" "" "" "" "1" "" "00006" "{PMID:Jackson 2025:40442284}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "5B-Pat2" "00467076" "" "" "" "1" "" "00006" "{PMID:Jackson 2025:40442284}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "5B-Pat3" "00467077" "" "" "" "1" "" "00006" "{PMID:Jackson 2025:40442284}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "Korea" "" "0" "" "" "" "5B-Pat4" "00467078" "" "" "" "1" "" "00006" "{PMID:Jackson 2025:40442284}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "Korea" "" "0" "" "" "" "5B-Pat5" "00467079" "" "" "" "1" "" "00006" "{PMID:Jackson 2025:40442284}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "5B-Pat6" "00467080" "" "" "" "1" "" "00006" "{PMID:Jackson 2025:40442284}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "5B-Pat7" "00467081" "" "" "" "1" "" "00006" "{PMID:Jackson 2025:40442284}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "5B-Pat8" "00467082" "" "" "" "1" "" "00006" "{PMID:Jackson 2025:40442284}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "Australia" "" "0" "" "" "" "5B-Pat9" "00467264" "" "" "" "1" "" "00006" "{PMID:Fan 2025:40968615}, {DOI:Fan 2025:10.1111/cge.70069}" "2-generation family, affected fetus, unaffected non-carrier parents" "" "" "China" "" "0" "" "" "" "Pat4" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 10 "{{individualid}}" "{{diseaseid}}" "00467074" "05611" "00467075" "05611" "00467076" "05611" "00467077" "05611" "00467078" "05611" "00467079" "05611" "00467080" "05611" "00467081" "05611" "00467082" "05611" "00467264" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 05611, 07183 ## Count = 10 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000352281" "05611" "00467074" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "NEDSJL" "neurodevelopmental disorder" "0000352282" "05611" "00467075" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "NEDSJL" "neurodevelopmental disorder" "0000352283" "05611" "00467076" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "NEDSJL" "neurodevelopmental disorder" "0000352284" "05611" "00467077" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "NEDSJL" "neurodevelopmental disorder" "0000352285" "05611" "00467078" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "NEDSJL" "neurodevelopmental disorder" "0000352286" "05611" "00467079" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "NEDSJL" "neurodevelopmental disorder" "0000352287" "05611" "00467080" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "NEDSJL" "neurodevelopmental disorder" "0000352288" "05611" "00467081" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "NEDSJL" "neurodevelopmental disorder" "0000352289" "05611" "00467082" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "NEDSJL" "neurodevelopmental disorder" "0000352470" "05611" "00467264" "00006" "Isolated (sporadic)" "<0d" "see paper; ..., 24wg-ultrasound nuchal translucency thickening, cervical hygroma with lymphatic cyst, bilateral renal hypoplasia, hepatomegaly, fetal biparietal 6.55cm, OFC 23.84cm, abdominal circumference 21.31cm, estimated fetal weight 796g, femur length 4.36cm, oligohydramnios" "" "" "" "" "" "" "NEDSJL" "neurodevelopmental disorder" ## Screenings ## Do not remove or alter this header ## ## Count = 10 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000468736" "00467074" "1" "00006" "00006" "2025-10-07 21:35:50" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468737" "00467075" "1" "00006" "00006" "2025-10-07 21:35:50" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468738" "00467076" "1" "00006" "00006" "2025-10-07 21:35:50" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468739" "00467077" "1" "00006" "00006" "2025-10-07 21:35:50" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468740" "00467078" "1" "00006" "00006" "2025-10-07 21:35:50" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468741" "00467079" "1" "00006" "00006" "2025-10-07 21:35:50" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468742" "00467080" "1" "00006" "00006" "2025-10-07 21:35:50" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468743" "00467081" "1" "00006" "00006" "2025-10-07 21:35:50" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468744" "00467082" "1" "00006" "00006" "2025-10-07 21:35:50" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468926" "00467264" "1" "00006" "00006" "2025-10-09 14:50:05" "" "" "SEQ;SEQ-NG" "DNA" "" "" ## 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 = 10 "{{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}}" "0001048666" "0" "90" "15" "65597056" "65597057" "ins" "0" "00006" "RNU5B-1_000004" "g.65597056_65597057insA" "" "{PMID:Jackson 2025:40442284}" "" "" "" "De novo" "" "" "0" "" "" "g.65304718_65304719insA" "" "pathogenic (dominant)" "" "0001048667" "0" "90" "15" "65597058" "65597058" "subst" "0" "00006" "RNU5B-1_000006" "g.65597058A>G" "" "{PMID:Jackson 2025:40442284}" "" "" "" "De novo" "" "" "0" "" "" "0g.65304720A>G" "" "pathogenic (dominant)" "" "0001048668" "0" "90" "15" "65597057" "65597057" "dup" "0" "00006" "RNU5B-1_000005" "g.65597057dup" "" "{PMID:Jackson 2025:40442284}" "" "39_40insT" "" "De novo" "" "" "0" "" "" "g.65304719dup" "" "pathogenic (dominant)" "" "0001048669" "0" "90" "15" "65597056" "65597057" "ins" "0" "00006" "RNU5B-1_000004" "g.65597056_65597057insA" "" "{PMID:Jackson 2025:40442284}" "" "" "" "De novo" "" "" "0" "" "" "g.65304718_65304719insA" "" "pathogenic (dominant)" "" "0001048670" "0" "90" "15" "65597056" "65597057" "ins" "0" "00006" "RNU5B-1_000004" "g.65597056_65597057insA" "" "{PMID:Jackson 2025:40442284}" "" "" "" "De novo" "" "" "0" "" "" "g.65304718_65304719insA" "" "pathogenic (dominant)" "" "0001048671" "0" "90" "15" "65597056" "65597057" "ins" "0" "00006" "RNU5B-1_000004" "g.65597056_65597057insA" "" "{PMID:Jackson 2025:40442284}" "" "" "" "De novo" "" "" "0" "" "" "g.65304718_65304719insA" "" "pathogenic (dominant)" "" "0001048672" "0" "90" "15" "65597051" "65597051" "subst" "0" "00006" "RNU5B-1_000001" "g.65597051G>C" "" "{PMID:Jackson 2025:40442284}" "" "" "" "De novo" "" "" "0" "" "" "g.65304713G>C" "" "pathogenic (dominant)" "" "0001048673" "0" "90" "15" "65597053" "65597053" "subst" "0" "00006" "RNU5B-1_000003" "g.65597053C>G" "" "{PMID:Jackson 2025:40442284}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.65304715C>G" "" "pathogenic (dominant)" "" "0001048674" "0" "90" "15" "65597053" "65597053" "subst" "0" "00006" "RNU5B-1_000003" "g.65597053C>G" "" "{PMID:Jackson 2025:40442284}" "" "" "" "De novo" "" "" "0" "" "" "g.65304715C>G" "" "pathogenic (dominant)" "" "0001048963" "0" "90" "15" "65597052" "65597052" "subst" "0" "00006" "RNU5B-1_000002" "g.65597052C>T" "" "{PMID:Fan 2025:40968615}, {DOI:Fan 2025:10.1111/cge.70069}" "" "" "" "De novo" "" "" "0" "" "" "g.65304714C>T" "" "pathogenic (dominant)" "" ## 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 RNU5B-1 ## Count = 10 "{{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}}" "0001048666" "00017973" "90" "42" "0" "43" "0" "n.42_43insA" "r.(?)" "-" "" "0001048667" "00017973" "90" "44" "0" "44" "0" "n.44A>G" "r.(?)" "-" "" "0001048668" "00017973" "90" "43" "0" "43" "0" "n.43dup" "r.(?)" "-" "" "0001048669" "00017973" "90" "42" "0" "43" "0" "n.42_43insA" "r.(?)" "-" "" "0001048670" "00017973" "90" "42" "0" "43" "0" "n.42_43insA" "r.(?)" "-" "" "0001048671" "00017973" "90" "42" "0" "43" "0" "n.42_43insA" "r.(?)" "-" "" "0001048672" "00017973" "90" "37" "0" "37" "0" "n.37G>C" "r.(?)" "-" "" "0001048673" "00017973" "90" "39" "0" "39" "0" "n.39C>G" "r.(?)" "-" "" "0001048674" "00017973" "90" "39" "0" "39" "0" "n.39C>G" "r.(?)" "-" "" "0001048963" "00017973" "90" "38" "0" "38" "0" "n.38C>T" "r.(?)" "-" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 10 "{{screeningid}}" "{{variantid}}" "0000468736" "0001048666" "0000468737" "0001048667" "0000468738" "0001048668" "0000468739" "0001048669" "0000468740" "0001048670" "0000468741" "0001048671" "0000468742" "0001048672" "0000468743" "0001048673" "0000468744" "0001048674" "0000468926" "0001048963"