### 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" "2026-07-02 11:11:12" "00006" "2026-07-02 14:35:26" ## 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 = 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" "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" "" "global developmental delay, seizure, hypotonia, intellectual disability, macrocephaly, failure to thrive, abnormality of the eye, delayed gross motor development, dystonia" "" "00006" "2025-09-30 18:00:59" "00006" "2026-07-02 11:38:32" ## 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 = 26 "{{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" "00480530" "" "" "" "1" "" "00006" "{PMID:Nava 2024:40379786}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "Pat152" "00480531" "" "" "" "1" "" "00006" "{PMID:Nava 2024:40379786}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "Pat153" "00480532" "" "" "" "1" "" "00006" "{PMID:Nava 2024:40379786}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "Pat154" "00480533" "" "" "" "1" "" "00006" "{PMID:Nava 2024:40379786}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Pat155" "00480534" "" "" "" "1" "" "00006" "{PMID:Nava 2024:40379786}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "Pat156" "00480535" "" "" "" "1" "" "00006" "{PMID:Nava 2024:40379786}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "Pat157" "00480536" "" "" "" "1" "" "00006" "{PMID:Nava 2024:40379786}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Pat158" "00480537" "" "" "" "1" "" "00006" "{PMID:Nava 2024:40379786}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Pat159" "00480538" "" "" "" "1" "" "00006" "{PMID:Nava 2024:40379786}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "Pat160" "00480539" "" "" "" "1" "" "00006" "{PMID:Nava 2024:40379786}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "France" "" "0" "" "" "" "Pat161" "00480540" "" "" "" "1" "" "00006" "{PMID:Nava 2024:40379786}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "France" "" "0" "" "" "" "Pat162" "00480560" "" "" "" "1" "" "00006" "{PMID:Nava 2024:40379786}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "France" "" "0" "" "" "" "" "00480561" "" "" "" "1" "" "00006" "{PMID:Nava 2024:40379786}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "France" "" "0" "" "" "" "" "00480562" "" "" "" "1" "" "00006" "{PMID:Nava 2024:40379786}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "France" "" "0" "" "" "" "" "00480563" "" "" "" "1" "" "00006" "{PMID:Nava 2024:40379786}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "France" "" "0" "" "" "" "" "00480564" "" "" "" "1" "" "00006" "{PMID:Nava 2024:40379786}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "France" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 26 "{{individualid}}" "{{diseaseid}}" "00467074" "05611" "00467075" "05611" "00467076" "05611" "00467077" "05611" "00467078" "05611" "00467079" "05611" "00467080" "05611" "00467081" "05611" "00467082" "05611" "00467264" "05611" "00480530" "05611" "00480531" "05611" "00480532" "05611" "00480533" "05611" "00480534" "05611" "00480535" "05611" "00480536" "05611" "00480537" "05611" "00480538" "05611" "00480539" "05611" "00480540" "05611" "00480560" "00198" "00480561" "00198" "00480562" "00198" "00480563" "00198" "00480564" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 05611, 07183 ## Count = 26 "{{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/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "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" "" "0000364955" "05611" "00480530" "00006" "Isolated (sporadic)" "" "see paper; ..., no prenatal findings; no intrauterine growth restriction; neonatal hypotonia; no talipes equinovarus; feeding problems; no microcephaly; no macrocephaly; no short stature; delayed walking; severe developmental delay; autism spectrum disorder; interactive disorders; no epilepsy" "" "" "" "" "" "" "" "NEDSJL" "neurodevelopmental disorder" "" "0000364956" "05611" "00480531" "00006" "Isolated (sporadic)" "" "see paper; ..., no prenatal findings; no intrauterine growth restriction; neonatal hypotonia; no talipes equinovarus; no feeding problems; no microcephaly; no macrocephaly; no short stature; not walking; severe developmental delay; severe intellectual disability; no autism spectrum disorder; head movement; no epilepsy" "" "" "" "" "" "" "" "NEDSJL" "neurodevelopmental disorder" "" "0000364957" "05611" "00480532" "00006" "Isolated (sporadic)" "" "see paper; ..., prenatal findings; no intrauterine growth restriction; bilateral superior vena cava; neonatal hypotonia; feeding problems; hospitalisation for first 4 months of life; no microcephaly; macrocephaly; no short stature; delayed walking; moderate; moderate intellectual disability; no autism spectrum disorder; frequent tantrums, head banging, hitting, pulling hair, inattention; no epilepsy" "" "" "" "" "" "" "" "NEDSJL" "neurodevelopmental disorder" "" "0000364958" "05611" "00480533" "00006" "Isolated (sporadic)" "" "see paper; ..., no prenatal findings; no intrauterine growth restriction; no neonatal hypotonia; no talipes equinovarus; feeding problems; no microcephaly; macrocephaly; no short stature; delayed walking; severe developmental delay; severe intellectual disability; no autism spectrum disorder; stereotypies; no epilepsy" "" "" "" "" "" "" "" "NEDSJL" "neurodevelopmental disorder" "" "0000364959" "05611" "00480534" "00006" "Isolated (sporadic)" "" "see paper; ..., prenatal findings; decreased fetal movement; neonatal hypotonia; severe developmental delay" "" "" "" "" "" "" "" "NEDSJL" "neurodevelopmental disorder" "" "0000364960" "05611" "00480535" "00006" "Isolated (sporadic)" "" "see paper; ..., no intrauterine growth restriction; maternal diet-controlled gestional dibetes mellitus; neonatal hypotonia; respiratory distress, hypoglycemia; no microcephaly; no macrocephaly; no short stature; delayed walking; no autism spectrum disorder; N; epilepsy, clenches both fists, stops breathing, eyes open and stares/glazed over look and sometimes head goes down to right side" "" "" "" "" "" "" "" "NEDSJL" "neurodevelopmental disorder" "" "0000364961" "05611" "00480536" "00006" "Isolated (sporadic)" "" "see paper; ..., prenatal findings; no intrauterine growth restriction; increased nuchal translucency, diffuse subcutaneous edema; no neonatal hypotonia; no talipes equinovarus; feeding problems; microcephaly; no macrocephaly; no short stature; delayed walking; severe developmental delay; severe intellectual disability; autism spectrum disorder; stereotypies, rare eye contact, hyperpnea; no epilepsy" "" "" "" "" "" "" "" "NEDSJL" "neurodevelopmental disorder" "" "0000364962" "05611" "00480537" "00006" "Isolated (sporadic)" "" "see paper; ..., prenatal findings; intrauterine growth restriction; IVF pregnancy; neonatal hypotonia; no talipes equinovarus; feeding problems; asphyxia; microcephaly; no macrocephaly; no short stature; delayed walking; severe developmental delay; severe intellectual disability; autism spectrum disorder; stereotypies,aggressive behavior, autoagressivity; no epilepsy" "" "" "" "" "" "" "" "NEDSJL" "neurodevelopmental disorder" "" "0000364963" "05611" "00480538" "00006" "Isolated (sporadic)" "" "see paper; ..., prenatal findings; intrauterine growth restriction; no neonatal hypotonia; no talipes equinovarus; feeding problems; microcephaly; no macrocephaly; no short stature; delayed walking; no developmental delay; no intellectual disability; stereotypies, attentional disorders, obsessive-compulsive disorders; no epilepsy" "" "" "" "" "" "" "" "NEDSJL" "neurodevelopmental disorder" "" "0000364964" "05611" "00480539" "00006" "Isolated (sporadic)" "" "see paper; ..., no prenatal findings; no intrauterine growth restriction; no neonatal hypotonia; no talipes equinovarus; no feeding problems; no microcephaly; no macrocephaly; no short stature; no delayed walking; mild developmental delay; mild intellectual disability; autism spectrum disorder; stereotypies; no epilepsy; global developmental delay ; autism; intellectual disability, mild" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "" "0000364965" "05611" "00480540" "00006" "Isolated (sporadic)" "" "see paper; ..., prenatal findings; intrauterine growth restriction; neonatal hypotonia; no feeding problems; no microcephaly; no macrocephaly; no short stature; delayed walking; moderate developmental delay; moderate intellectual disability; no autism spectrum disorder; no epilepsy; abnormal corpus callosum morphology; severe expressive language delay; abnormality of prenatal development or birth; intellectual disability, moderate" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "" "0000364985" "00198" "00480560" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "0000364986" "00198" "00480561" "00006" "Unknown" "" "global developmental delay; abnormality of mouth size; hypertelorism; short neck; small forehead; epicanthus; synophrys; large hands; contracture of the proximal interphalangeal joint of the 3rd toe; hypertrichosis; bilateral cryptorchidism; arnold-chiari malformation; delayed speech and language development; asthma; hypermetropia; astigmatism" "" "" "" "" "" "" "" "" "" "" "0000364987" "00198" "00480562" "00006" "Unknown" "" "moderate sensorineural hearing impairment; mild neurosensory hearing impairment; global developmental delay; absent speech; infantile axial hypotonia; large for gestational age; abnormality of the pulmonary artery; periventricular leukomalacia; high hypermetropia" "" "" "" "" "" "" "" "" "" "" "0000364988" "00198" "00480563" "00006" "Unknown" "" "atrial septal defect / scoliosis / abnormal 5th finger morphology; pes planus; intellectual disability, borderline" "" "" "" "" "" "" "" "" "" "" "0000364989" "00198" "00480564" "00006" "Unknown" "" "autistic behavior; intellectual disability, severe; congenital cystic adenomatoid malformation of the lung; pectus excavatum; high myopia; ecchymosis; thin skin; generalized joint laxity; growth hormone deficiency" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 26 "{{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" "" "" "0000482176" "00480530" "1" "00006" "00006" "2026-07-02 14:20:09" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000482177" "00480531" "1" "00006" "00006" "2026-07-02 14:20:09" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000482178" "00480532" "1" "00006" "00006" "2026-07-02 14:20:09" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000482179" "00480533" "1" "00006" "00006" "2026-07-02 14:20:09" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000482180" "00480534" "1" "00006" "00006" "2026-07-02 14:20:09" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000482181" "00480535" "1" "00006" "00006" "2026-07-02 14:20:09" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000482182" "00480536" "1" "00006" "00006" "2026-07-02 14:20:09" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000482183" "00480537" "1" "00006" "00006" "2026-07-02 14:20:09" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000482184" "00480538" "1" "00006" "00006" "2026-07-02 14:20:09" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000482185" "00480539" "1" "00006" "00006" "2026-07-02 14:20:09" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000482186" "00480540" "1" "00006" "00006" "2026-07-02 14:20:09" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000482206" "00480560" "1" "00006" "00006" "2026-07-02 14:20:09" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000482207" "00480561" "1" "00006" "00006" "2026-07-02 14:20:09" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000482208" "00480562" "1" "00006" "00006" "2026-07-02 14:20:09" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000482209" "00480563" "1" "00006" "00006" "2026-07-02 14:20:09" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000482210" "00480564" "1" "00006" "00006" "2026-07-02 14:20:09" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" ## 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 = 28 "{{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)" "" "0001066247" "0" "50" "15" "65597098" "65597098" "subst" "0" "02325" "RNU5B-1_000007" "g.65597098G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001066248" "0" "30" "15" "65597121" "65597121" "subst" "0" "02325" "RNU5B-1_000008" "g.65597121C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001079228" "0" "70" "15" "65597053" "65597053" "subst" "0" "00006" "RNU5B-1_000003" "g.65597053C>G" "" "{PMID:Nava 2024:40379786}" "" "" "" "De novo" "" "" "0" "" "" "g.65304715C>G" "" "likely pathogenic (dominant)" "" "0001079229" "21" "70" "15" "65597053" "65597053" "subst" "0" "00006" "RNU5B-1_000003" "g.65597053C>G" "" "{PMID:Nava 2024:40379786}" "" "" "" "De novo" "" "" "0" "" "" "g.65304715C>G" "" "likely pathogenic (dominant)" "" "0001079230" "11" "70" "15" "65597053" "65597053" "subst" "0" "00006" "RNU5B-1_000003" "g.65597053C>G" "" "{PMID:Nava 2024:40379786}" "" "" "" "De novo" "" "" "0" "" "" "g.65304715C>G" "" "likely pathogenic (dominant)" "" "0001079231" "0" "70" "15" "65597053" "65597053" "subst" "0" "00006" "RNU5B-1_000003" "g.65597053C>G" "" "{PMID:Nava 2024:40379786}" "" "" "" "De novo" "" "" "0" "" "" "g.65304715C>G" "" "likely pathogenic (dominant)" "" "0001079232" "0" "70" "15" "65597053" "65597053" "subst" "0" "00006" "RNU5B-1_000003" "g.65597053C>G" "" "{PMID:Nava 2024:40379786}" "" "" "" "De novo" "" "" "0" "" "" "g.65304715C>G" "" "likely pathogenic (dominant)" "" "0001079233" "0" "70" "15" "65597056" "65597057" "ins" "0" "00006" "RNU5B-1_000004" "g.65597056_65597057insA" "" "{PMID:Nava 2024:40379786}" "" "" "" "De novo" "" "" "0" "" "" "g.65304718_65304719insA" "" "likely pathogenic (dominant)" "" "0001079234" "0" "70" "15" "65597058" "65597058" "subst" "0" "00006" "RNU5B-1_000006" "g.65597058A>G" "" "{PMID:Nava 2024:40379786}" "" "" "" "De novo" "" "" "0" "" "" "g.65304720A>G" "" "likely pathogenic (dominant)" "" "0001079235" "21" "70" "15" "65597058" "65597058" "subst" "0" "00006" "RNU5B-1_000006" "g.65597058A>G" "" "{PMID:Nava 2024:40379786}" "" "" "" "De novo" "" "" "0" "" "" "g.65304720A>G" "" "likely pathogenic (dominant)" "" "0001079236" "21" "70" "15" "65597058" "65597058" "subst" "0" "00006" "RNU5B-1_000006" "g.65597058A>G" "" "{PMID:Nava 2024:40379786}" "" "" "" "De novo" "" "" "0" "" "" "g.65304720A>G" "" "likely pathogenic (dominant)" "" "0001079237" "11" "50" "15" "65597038" "65597038" "subst" "0" "00006" "chr15_006479" "g.65597038G>C" "" "{PMID:Nava 2024:40379786}" "" "" "" "De novo" "" "" "0" "" "" "g.65304700G>C" "" "VUS" "" "0001079238" "11" "50" "15" "65597088" "65597088" "subst" "0" "00006" "chr15_006480" "g.65597088T>C" "" "{PMID:Nava 2024:40379786}" "" "" "" "De novo" "" "" "0" "" "" "g.65304750T>C" "" "VUS" "" "0001079258" "0" "50" "15" "65597038" "65597038" "subst" "0" "00006" "chr15_006479" "g.65597038G>C" "" "{PMID:Nava 2024:40379786}" "" "ENST00000363286.1" "" "De novo" "" "" "0" "" "" "g.65304700G>C" "" "VUS" "" "0001079259" "0" "50" "15" "65597053" "65597053" "subst" "0" "00006" "RNU5B-1_000003" "g.65597053C>G" "" "{PMID:Nava 2024:40379786}" "" "ENST00000363286.1" "possible duplicate entry" "De novo" "" "" "0" "" "" "g.65304715C>G" "" "VUS" "" "0001079260" "0" "50" "15" "65597053" "65597053" "subst" "0" "00006" "RNU5B-1_000003" "g.65597053C>G" "" "{PMID:Nava 2024:40379786}" "" "ENST00000363286.1" "possible duplicate entry" "De novo" "" "" "0" "" "" "g.65304715C>G" "" "VUS" "" "0001079261" "0" "50" "15" "65597058" "65597058" "subst" "0" "00006" "RNU5B-1_000006" "g.65597058A>G" "" "{PMID:Nava 2024:40379786}" "" "ENST00000363286.1" "possible duplicate entry" "De novo" "" "" "0" "" "" "g.65304720A>G" "" "VUS" "" "0001079262" "0" "50" "15" "65597058" "65597058" "subst" "0" "00006" "RNU5B-1_000006" "g.65597058A>G" "" "{PMID:Nava 2024:40379786}" "" "ENST00000363286.1" "possible duplicate entry" "De novo" "" "" "0" "" "" "g.65304720A>G" "" "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 RNU5B-1 ## Count = 28 "{{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.(?)" "-" "" "0001066247" "00017973" "50" "84" "0" "84" "0" "n.84G>A" "r.(?)" "-" "" "0001066248" "00017973" "30" "107" "0" "107" "0" "n.107C>T" "r.(?)" "-" "" "0001079228" "00017973" "70" "39" "0" "39" "0" "n.39C>G" "r.(?)" "-" "" "0001079229" "00017973" "70" "39" "0" "39" "0" "n.39C>G" "r.(?)" "-" "" "0001079230" "00017973" "70" "39" "0" "39" "0" "n.39C>G" "r.(?)" "-" "" "0001079231" "00017973" "70" "39" "0" "39" "0" "n.39C>G" "r.(?)" "-" "" "0001079232" "00017973" "70" "39" "0" "39" "0" "n.39C>G" "r.(?)" "-" "" "0001079233" "00017973" "70" "42" "0" "43" "0" "n.42_43insA" "r.(?)" "-" "" "0001079234" "00017973" "70" "44" "0" "44" "0" "n.44A>G" "r.(?)" "-" "" "0001079235" "00017973" "70" "44" "0" "44" "0" "n.44A>G" "r.(?)" "-" "" "0001079236" "00017973" "70" "44" "0" "44" "0" "n.44A>G" "r.(?)" "-" "" "0001079237" "00017973" "50" "24" "0" "24" "0" "n.24G>C" "r.(?)" "-" "" "0001079238" "00017973" "50" "74" "0" "74" "0" "n.74T>C" "r.(?)" "-" "" "0001079258" "00017973" "50" "24" "0" "24" "0" "n.24G>C" "r.(?)" "-" "" "0001079259" "00017973" "50" "39" "0" "39" "0" "n.39C>G" "r.(?)" "-" "" "0001079260" "00017973" "50" "39" "0" "39" "0" "n.39C>G" "r.(?)" "-" "" "0001079261" "00017973" "50" "44" "0" "44" "0" "n.44A>G" "r.(?)" "-" "" "0001079262" "00017973" "50" "44" "0" "44" "0" "n.44A>G" "r.(?)" "-" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 26 "{{screeningid}}" "{{variantid}}" "0000468736" "0001048666" "0000468737" "0001048667" "0000468738" "0001048668" "0000468739" "0001048669" "0000468740" "0001048670" "0000468741" "0001048671" "0000468742" "0001048672" "0000468743" "0001048673" "0000468744" "0001048674" "0000468926" "0001048963" "0000482176" "0001079228" "0000482177" "0001079229" "0000482178" "0001079230" "0000482179" "0001079231" "0000482180" "0001079232" "0000482181" "0001079233" "0000482182" "0001079234" "0000482183" "0001079235" "0000482184" "0001079236" "0000482185" "0001079237" "0000482186" "0001079238" "0000482206" "0001079258" "0000482207" "0001079259" "0000482208" "0001079260" "0000482209" "0001079261" "0000482210" "0001079262"