### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = RNU12) # 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}}" "RNU12" "RNA, U12 small nuclear" "22" "q13.2" "unknown" "NC_000022.10" "UD_136090760570" "" "https://www.LOVD.nl/RNU12" "" "1" "19380" "267010" "620204" "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" "2026-05-25 18:00:26" "00006" "2026-05-25 22:15:13" ## 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}}" "00018024" "RNU12" "RNA, U12 small nuclear" "001" "NR_029422.1" "" "" "" "" "" "1" "149" "149" "43011251" "43011399" "" "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}}" "04167" "SCA" "ataxia, spinocerebellar (SCA)" "" "" "" "" "" "00006" "2014-12-24 11:54:32" "00006" "2015-12-08 23:59:30" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "07260" "CDAGS" "CDAGS syndrome" "AR" "603116" "" "" "" "00006" "2026-05-25 18:02:02" "" "" "07261" "SCAR33" "ataxia, spinocerebellar, autosomal recessive, type 33" "AR" "620208" "" "" "" "00006" "2026-05-25 18:03:39" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "RNU12" "05611" "RNU12" "07260" "RNU12" "07261" ## 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}}" "00479990" "" "" "" "6" "" "00006" "{PMID:Elsaid 2017:27863452}" "3-generation family, 6 affected (5F, M)" "F" "yes" "Qatar" "" "0" "" "" "" "FamPatII2" "00479991" "" "" "00479990" "1" "" "00006" "{PMID:Elsaid 2017:27863452}" "sister" "F" "yes" "Qatar" "" "0" "" "" "" "FamPatII3" "00479992" "" "" "00479990" "1" "" "00006" "{PMID:Elsaid 2017:27863452}" "niece" "F" "yes" "Qatar" "" "0" "" "" "" "FamPatII6" "00479993" "" "" "00479990" "1" "" "00006" "{PMID:Elsaid 2017:27863452}" "cousin" "M" "yes" "Qatar" "" "0" "" "" "" "FamPatII8" "00479994" "" "" "00479990" "1" "" "00006" "{PMID:Elsaid 2017:27863452}" "niece" "F" "yes" "Qatar" "" "0" "" "" "" "FamPatII10" "00479995" "" "" "00479990" "1" "" "00006" "{PMID:Elsaid 2017:27863452}" "niece" "F" "yes" "Qatar" "" "0" "" "" "" "FamPatII13" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 6 "{{individualid}}" "{{diseaseid}}" "00479990" "04167" "00479991" "04167" "00479992" "04167" "00479993" "04167" "00479994" "04167" "00479995" "04167" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 04167, 05611, 07260, 07261 ## Count = 6 "{{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}}" "0000364494" "04167" "00479990" "00006" "Familial, autosomal recessive" "19y" "see paper; ..., hypotonia (infancy); 8y-walk; mild learning difficulties; complex partial seizures; dysarthric speech; no nystagmus; truncal ataxia, intention tremor; wide-based gait, falls on turning; no liver impairment; reduced cerebellum inferior>superior vermis; reduced cerebellum volume vermis>hemisphere; no simplified cortical gyri" "" "" "" "" "" "" "" "SCAR33" "cerebellar ataxia" "0000364495" "04167" "00479991" "00006" "Familial, autosomal recessive" "13y" "see paper; ..., no hypotonia (infancy); 8y-walk; no learning difficulties; febrile seizures; dysarthric speech; no nystagmus; truncal ataxia, intention tremor; wide-based gait, falls on turning; no liver impairment; reduced cerebellum inferior>superior vermis; reduced cerebellum volume vermis>hemisphere; no simplified cortical gyri" "" "" "" "" "" "" "" "SCAR33" "cerebellar ataxia" "0000364496" "04167" "00479992" "00006" "Familial, autosomal recessive" "25y" "see paper; ..., hypotonia (infancy); 2y-walk; no learning difficulties; febrile seizures; dysarthric speech; nystagmus; truncal ataxia, intention tremor; wide-based gait, falls on turning; no liver impairment; reduced cerebellum inferior>superior vermis; reduced cerebellum volume vermis>hemisphere; no simplified cortical gyri" "" "" "" "" "" "" "" "SCAR33" "cerebellar ataxia" "0000364497" "04167" "00479993" "00006" "Familial, autosomal recessive" "22y" "see paper; ..., hypotonia (infancy); 4y-walk; mild learning difficulties; febrile seizures; dysarthric speech; nystagmus; truncal ataxia, intention tremor; wide-based gait, falls on turning; liver impairment; reduced cerebellum inferior>superior vermis; reduced cerebellum volume vermis>hemisphere; no simplified cortical gyri" "" "" "" "" "" "" "" "SCAR33" "cerebellar ataxia" "0000364498" "04167" "00479994" "00006" "Familial, autosomal recessive" "15y" "see paper; ..., hypotonia (infancy); 3y-walk; mild learning difficulties; no seizures; dysarthric speech; nystagmus; truncal ataxia, intention tremor; wide-based gait, falls on turning; no liver impairment; reduced cerebellum inferior>superior vermis; reduced cerebellum volume vermis>hemisphere; no simplified cortical gyri" "" "" "" "" "" "" "" "SCAR33" "cerebellar ataxia" "0000364499" "04167" "00479995" "00006" "Familial, autosomal recessive" "10y" "see paper; ..., hypotonia (infancy); 1.6y-walk; mild learning difficulties; no seizures; no dysarthric speech; no nystagmus; truncal ataxia, intention tremor; no wide-based gait, no falls on turning; no liver impairment" "" "" "" "" "" "" "" "SCAR33" "cerebellar ataxia" ## 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}}" "0000481636" "00479990" "1" "00006" "00006" "2026-05-25 22:11:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000481637" "00479991" "1" "00006" "00006" "2026-05-25 22:11:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000481638" "00479992" "1" "00006" "00006" "2026-05-25 22:11:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000481639" "00479993" "1" "00006" "00006" "2026-05-25 22:11:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000481640" "00479994" "1" "00006" "00006" "2026-05-25 22:11:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000481641" "00479995" "1" "00006" "00006" "2026-05-25 22:11:43" "" "" "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}}" "0001078270" "3" "90" "22" "43011333" "43011333" "subst" "0" "00006" "RNU12_000001" "g.43011333C>T" "" "{PMID:Elsaid 2017:27863452}" "" "" "" "Germline" "yes" "" "0" "" "" "g.42615327C>T" "" "pathogenic (recessive)" "" "0001078271" "3" "90" "22" "43011333" "43011333" "subst" "0" "00006" "RNU12_000001" "g.43011333C>T" "" "{PMID:Elsaid 2017:27863452}" "" "" "" "Germline" "yes" "" "0" "" "" "g.42615327C>T" "" "pathogenic (recessive)" "" "0001078272" "3" "90" "22" "43011333" "43011333" "subst" "0" "00006" "RNU12_000001" "g.43011333C>T" "" "{PMID:Elsaid 2017:27863452}" "" "" "" "Germline" "yes" "" "0" "" "" "g.42615327C>T" "" "pathogenic (recessive)" "" "0001078273" "3" "90" "22" "43011333" "43011333" "subst" "0" "00006" "RNU12_000001" "g.43011333C>T" "" "{PMID:Elsaid 2017:27863452}" "" "" "" "Germline" "yes" "" "0" "" "" "g.42615327C>T" "" "pathogenic (recessive)" "" "0001078274" "3" "90" "22" "43011333" "43011333" "subst" "0" "00006" "RNU12_000001" "g.43011333C>T" "" "{PMID:Elsaid 2017:27863452}" "" "" "" "Germline" "yes" "" "0" "" "" "g.42615327C>T" "" "pathogenic (recessive)" "" "0001078275" "3" "90" "22" "43011333" "43011333" "subst" "0" "00006" "RNU12_000001" "g.43011333C>T" "" "{PMID:Elsaid 2017:27863452}" "" "" "" "Germline" "yes" "" "0" "" "" "g.42615327C>T" "" "pathogenic (recessive)" "" ## 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 RNU12 ## 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}}" "0001078270" "00018024" "90" "83" "0" "83" "0" "n.83C>T" "r.83C>T|inc" "-" "" "0001078271" "00018024" "90" "83" "0" "83" "0" "n.83C>T" "r.83C>T|inc" "-" "" "0001078272" "00018024" "90" "83" "0" "83" "0" "n.83C>T" "r.83C>T|inc" "-" "" "0001078273" "00018024" "90" "83" "0" "83" "0" "n.83C>T" "r.83C>T|inc" "-" "" "0001078274" "00018024" "90" "83" "0" "83" "0" "n.83C>T" "r.83C>T|inc" "-" "" "0001078275" "00018024" "90" "83" "0" "83" "0" "n.83C>T" "r.83C>T|inc" "-" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 6 "{{screeningid}}" "{{variantid}}" "0000481636" "0001078270" "0000481637" "0001078271" "0000481638" "0001078272" "0000481639" "0001078273" "0000481640" "0001078274" "0000481641" "0001078275"