### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = RNU5A-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}}" "RNU5A-1" "RNA, U5A small nuclear 1" "15" "q22.31" "unknown" "NC_000015.9" "UD_136090700967" "" "https://www.LOVD.nl/RNU5-2" "" "1" "10211" "26831" "180691" "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 11:10:37" "00006" "2026-07-02 14:20:12" ## 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}}" "00017972" "RNU5A-1" "RNA, U5A small nuclear 1" "001" "NR_002756.2" "" "" "" "" "" "1" "117" "117" "65588389" "65588505" "" "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}}" "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" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "RNU5A-1" "05611" ## Individuals ## Do not remove or alter this header ## ## Count = 6 "{{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}}" "00480527" "" "" "" "1" "" "00006" "{PMID:Nava 2024:40379786}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "France" "" "0" "" "" "" "Pat149" "00480528" "" "" "" "1" "" "00006" "{PMID:Nava 2024:40379786}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "France" "" "0" "" "" "" "Pat150" "00480529" "" "" "" "1" "" "00006" "{PMID:Nava 2024:40379786}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "France" "" "0" "" "" "" "Pat151" "00480557" "" "" "" "1" "" "00006" "{PMID:Nava 2024:40379786}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "France" "" "0" "" "" "" "" "00480558" "" "" "" "1" "" "00006" "{PMID:Nava 2024:40379786}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "France" "" "0" "" "" "" "" "00480559" "" "" "" "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 = 6 "{{individualid}}" "{{diseaseid}}" "00480527" "05611" "00480528" "05611" "00480529" "05611" "00480557" "00198" "00480558" "00198" "00480559" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 05611 ## Count = 6 "{{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}}" "0000364952" "05611" "00480527" "00006" "Isolated (sporadic)" "" "see paper; ..., prenatal findings; intrauterine growth restriction; no neonatal hypotonia; no talipes equinovarus; feeding problems; postaxial polydactyly; no microcephaly; no macrocephaly; no short stature; delayed walking; mild developmental delay; no intellectual disability; no autism spectrum disorder; orality disorder, motor and executive difficulties, attentional disorder; epilepsy, continuous wave sleep spikes; delayed speech and language development; growth delay; neurodevelopmental delay; abnormal number of teeth; abnormality of dental morphology; joint laxity; polydactyly; seizures" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "" "0000364953" "05611" "00480528" "00006" "Isolated (sporadic)" "" "see paper; ..., prenatal findings; no intrauterine growth restriction; oligoamnios; neonatal hypotonia; talipes equinovarus; no feeding problems; pes talipes explained by oligoamnios; no microcephaly; no macrocephaly; short stature; delayed walking; severe developmental delay; severe intellectual disability; no autism spectrum disorder; autoagressivity; epilepsy, hemiconvulsion-hemiplegia-epilepsy syndrome clonic/tonic/generalized tonic-clonic seizure; caudal appendage; sacral dimple; gastroesophageal reflux; short stature; anteriorly placed anus; absent septum pellucidum; focal tonic seizures; hypoplasia of the corpus callosum" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "" "0000364954" "05611" "00480529" "00006" "Isolated (sporadic)" "" "see paper; ..., no prenatal findings; no intrauterine growth restriction; no neonatal hypotonia; no talipes equinovarus; feeding problems; no microcephaly; no macrocephaly; no short stature; no delayed walking; mild developmental delay; mild intellectual disability; no autism spectrum disorder; no epilepsy; disproportionate tall stature; intellectual disability" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "" "0000364982" "00198" "00480557" "00006" "Unknown" "" "hemeralopia; progressive visual field defects; photophobia; undetectable light- and dark-adapted electroretinogram" "" "" "" "" "" "" "" "" "" "" "0000364983" "00198" "00480558" "00006" "Unknown" "" "microcephaly; expressive language delay; unilateral renal agenesis; intellectual disability, borderline" "" "" "" "" "" "" "" "" "" "" "0000364984" "00198" "00480559" "00006" "Unknown" "" "global developmental delay; expressive language delay; low frustration tolerance; obesity; few cafe-au-lait spots; receptive language delay" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000482173" "00480527" "1" "00006" "00006" "2026-07-02 14:20:09" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000482174" "00480528" "1" "00006" "00006" "2026-07-02 14:20:09" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000482175" "00480529" "1" "00006" "00006" "2026-07-02 14:20:09" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000482203" "00480557" "1" "00006" "00006" "2026-07-02 14:20:09" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000482204" "00480558" "1" "00006" "00006" "2026-07-02 14:20:09" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000482205" "00480559" "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 = 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}}" "0001079225" "21" "50" "15" "65588428" "65588429" "ins" "0" "00006" "chr15_006477" "g.65588428_65588429insA" "" "{PMID:Nava 2024:40379786}" "" "" "" "De novo" "" "" "0" "" "" "g.65296090_65296091insA" "" "VUS" "" "0001079226" "21" "50" "15" "65588428" "65588429" "ins" "0" "00006" "chr15_006477" "g.65588428_65588429insA" "" "{PMID:Nava 2024:40379786}" "" "" "" "De novo" "" "" "0" "" "" "g.65296090_65296091insA" "" "VUS" "" "0001079227" "0" "50" "15" "65588427" "65588427" "del" "0" "00006" "chr15_006478" "g.65588427del" "" "{PMID:Nava 2024:40379786}" "" "" "" "De novo" "" "" "0" "" "" "g.65296089del" "" "VUS" "" "0001079255" "0" "50" "15" "65588426" "65588426" "subst" "0" "00006" "chr15_006481" "g.65588426C>T" "" "{PMID:Nava 2024:40379786}" "" "ENST00000362698.1" "" "De novo" "" "" "0" "" "" "g.65296088C>T" "" "VUS" "" "0001079256" "0" "50" "15" "65588450" "65588450" "subst" "0" "00006" "chr15_006482" "g.65588450G>A" "" "{PMID:Nava 2024:40379786}" "" "ENST00000362698.1" "" "De novo" "" "" "0" "" "" "g.65296112G>A" "" "VUS" "" "0001079257" "0" "50" "15" "65588461" "65588461" "subst" "0" "00006" "chr15_006483" "g.65588461C>T" "" "{PMID:Nava 2024:40379786}" "" "ENST00000362698.1" "" "De novo" "" "" "0" "" "" "g.65296123C>T" "" "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 RNU5A-1 ## 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}}" "0001079225" "00017972" "50" "40" "0" "41" "0" "n.40_41insA" "r.(?)" "-" "" "0001079226" "00017972" "50" "40" "0" "41" "0" "n.40_41insA" "r.(?)" "-" "" "0001079227" "00017972" "50" "39" "0" "39" "0" "n.39del" "r.(?)" "-" "" "0001079255" "00017972" "50" "38" "0" "38" "0" "n.38C>T" "r.(?)" "-" "" "0001079256" "00017972" "50" "62" "0" "62" "0" "n.62G>A" "r.(?)" "-" "" "0001079257" "00017972" "50" "73" "0" "73" "0" "n.73C>T" "r.(?)" "-" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 6 "{{screeningid}}" "{{variantid}}" "0000482173" "0001079225" "0000482174" "0001079226" "0000482175" "0001079227" "0000482203" "0001079255" "0000482204" "0001079256" "0000482205" "0001079257"