### 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" "2026-06-27 14:36:26" ## 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}}" "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 = 5 "{{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" "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 = 11 "{{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" "00480175" "" "" "" "1" "" "00006" "{PMID:Xing 2021:34085356}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "United States" "" "0" "" "" "white" "Fam1PatII2" "00480176" "" "" "" "1" "" "00006" "{PMID:Xing 2021:34085356}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "United States" "" "0" "" "" "Hispanic" "Fam2PatII4" "00480177" "" "" "" "2" "" "00006" "{PMID:Xing 2021:34085356}" "2-generation family, 2 affected brothers, unaffected heterozygous carrier parents" "M" "no" "Ireland" "" "0" "" "" "white" "Fam3PatII1" "00480178" "" "" "00480177" "1" "" "00006" "{PMID:Xing 2021:34085356}" "brother" "M" "no" "Ireland" "" "0" "" "" "white" "Fam3PatII" "00480179" "" "" "" "1" "" "00006" "{PMID:Xing 2021:34085356}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "Mexico" "" "0" "" "" "" "Fam4PatII1" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 11 "{{individualid}}" "{{diseaseid}}" "00479990" "04167" "00479991" "04167" "00479992" "04167" "00479993" "04167" "00479994" "04167" "00479995" "04167" "00480175" "00198" "00480176" "00198" "00480177" "00198" "00480178" "00198" "00480179" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 04167, 05611, 07260, 07261 ## Count = 11 "{{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}}" "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" "" "0000364668" "00198" "00480175" "00006" "Familial, autosomal recessive" "2y" "see paper; ..., craniosynostosis (1y-required cranioplasty for bilateral coronal synostosis); 3m-porokeratosis (erythematous cutaneous eruption involving face/ears/arms/hands/legs/feet); 2 urethral openings; hypoplastic medial right clavicle, pseudoarthrosis; broad forehead, metopic depression, mid-face hypoplasia, bilateral epicanthal folds, deep philtrum, flat nasal bridge, short anteverted nose, tented upper lip, short neck; alopecia arms/legs; no eyebrows, no lower eyelashes, scalp hair very thin and sparse" "" "" "" "" "" "" "" "CDAGS" "craniosynostosis" "" "0000364669" "00198" "00480176" "00006" "Familial, autosomal recessive" "2y" "see paper; ..., imperforate anus, small clavicles, erythematous skin eruption involving cheeks/arms/legs" "" "" "" "" "" "" "" "CDAGS" "imperforate anus" "" "0000364670" "00198" "00480177" "00006" "Familial, autosomal recessive" "8y" "see paper; ..., craniosynostosis (brachycephaly, wide-open anterior/posterior fontanels, complete coronal synostosis), anal anomalies, porokeratosis" "" "" "" "" "" "" "" "CDAGS" "craniosynostosis" "" "0000364671" "00198" "00480178" "00006" "Familial, autosomal recessive" "" "see paper; ..., craniosynostosis (brachycephaly, wide-open anterior/posterior fontanels, complete coronal synostosis), anal anomalies, porokeratosis" "" "" "" "" "" "" "" "CDAGS" "craniosynostosis" "" "0000364672" "00198" "00480179" "00006" "Familial, autosomal recessive" "2y" "see paper; ..., brachycephaly, cleft palate, anal malformation with rectovestibular fistula, clinodactyly third toe, 4m-disseminated dermatosis" "" "" "" "" "" "" "" "CDAGS" "brachycephaly, cleft palate" "" ## Screenings ## Do not remove or alter this header ## ## Count = 11 "{{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" "0000481821" "00480175" "1" "00006" "00006" "2026-06-27 14:36:25" "" "" "SEQ;SEQ-NG;SEQ-NG-RNA" "DNA;RNA" "" "WES" "0000481822" "00480176" "1" "00006" "00006" "2026-06-27 14:36:25" "" "" "SEQ;SEQ-NG;SEQ-NG-RNA" "DNA;RNA" "" "WES" "0000481823" "00480177" "1" "00006" "00006" "2026-06-27 14:36:25" "" "" "SEQ;SEQ-NG;SEQ-NG-RNA" "DNA;RNA" "" "WES" "0000481824" "00480178" "1" "00006" "00006" "2026-06-27 14:36:25" "" "" "SEQ;SEQ-NG;SEQ-NG-RNA" "DNA;RNA" "" "WES" "0000481825" "00480179" "1" "00006" "00006" "2026-06-27 14:36:25" "" "" "SEQ;SEQ-NG;SEQ-NG-RNA" "DNA;RNA" "" "WES" ## 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 = 16 "{{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)" "" "0001078719" "11" "90" "22" "43011335" "43011335" "subst" "0" "00006" "chr22_003280" "g.43011335G>A" "" "{PMID:Xing 2021:34085356}" "" "g.9712G>C" "" "Germline" "" "rs548281798" "0" "" "" "g.42615329G>A" "" "pathogenic (recessive)" "" "0001078720" "11" "90" "22" "43011326" "43011326" "subst" "0" "00006" "chr22_003281" "g.43011326T>A" "" "{PMID:Xing 2021:34085356}" "" "g.9712G>C" "" "Germline" "" "rs768684008" "0" "" "" "g.42615320T>A" "" "pathogenic (recessive)" "" "0001078721" "21" "90" "22" "43011326" "43011326" "subst" "0" "00006" "chr22_003282" "g.43011326T>G" "" "{PMID:Xing 2021:34085356}" "" "g.9712G>C" "" "Germline" "yes" "rs768684008" "0" "" "" "g.42615320T>G" "" "pathogenic (recessive)" "" "0001078722" "21" "90" "22" "43011326" "43011326" "subst" "0" "00006" "chr22_003282" "g.43011326T>G" "" "{PMID:Xing 2021:34085356}" "" "g.9712G>C" "" "Germline" "yes" "rs768684008" "0" "" "" "g.42615320T>G" "" "pathogenic (recessive)" "" "0001078723" "11" "90" "22" "43011324" "43011324" "subst" "0" "00006" "chr22_003283" "g.43011324A>G" "" "{PMID:Xing 2021:34085356}" "" "g.9712G>C" "" "Germline" "" "rs552666394" "0" "" "" "g.42615318A>G" "" "pathogenic (recessive)" "" "0001078724" "21" "90" "22" "43011402" "43011402" "subst" "0" "00006" "chr22_003284" "g.43011402C>T" "" "{PMID:Xing 2021:34085356}" "" "g.9712G>C" "n.*3C>T" "Germline" "" "" "0" "" "" "g.42615396C>T" "" "pathogenic (recessive)" "" "0001078725" "21" "90" "22" "43011402" "43011402" "subst" "0" "00006" "chr22_003284" "g.43011402C>T" "" "{PMID:Xing 2021:34085356}" "" "g.9712G>C" "n.*3C>T" "Germline" "" "" "0" "" "" "g.42615396C>T" "" "pathogenic (recessive)" "" "0001078726" "11" "90" "22" "43011402" "43011402" "subst" "0" "00006" "chr22_003284" "g.43011402C>T" "" "{PMID:Xing 2021:34085356}" "" "g.9712G>C" "n.*3C>T" "Germline" "yes" "" "0" "" "" "g.42615396C>T" "" "pathogenic (recessive)" "" "0001078727" "11" "90" "22" "43011402" "43011402" "subst" "0" "00006" "chr22_003284" "g.43011402C>T" "" "{PMID:Xing 2021:34085356}" "" "g.9712G>C" "n.*3C>T" "Germline" "yes" "" "0" "" "" "g.42615396C>T" "" "pathogenic (recessive)" "" "0001078728" "21" "90" "22" "43011402" "43011402" "subst" "0" "00006" "chr22_003284" "g.43011402C>T" "" "{PMID:Xing 2021:34085356}" "" "g.9712G>C" "n.*3C>T" "Germline" "" "" "0" "" "" "g.42615396C>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 = 16 "{{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|irc" "-" "" "0001078271" "00018024" "90" "83" "0" "83" "0" "n.83C>T" "r.83C>T|irc" "-" "" "0001078272" "00018024" "90" "83" "0" "83" "0" "n.83C>T" "r.83C>T|irc" "-" "" "0001078273" "00018024" "90" "83" "0" "83" "0" "n.83C>T" "r.83C>T|irc" "-" "" "0001078274" "00018024" "90" "83" "0" "83" "0" "n.83C>T" "r.83C>T|irc" "-" "" "0001078275" "00018024" "90" "83" "0" "83" "0" "n.83C>T" "r.83C>T|irc" "-" "" "0001078719" "00018024" "90" "86" "0" "86" "0" "n.86G>A" "r.86G>A" "-" "" "0001078720" "00018024" "90" "77" "0" "77" "0" "n.77T>A" "r.77T>A" "-" "" "0001078721" "00018024" "90" "77" "0" "77" "0" "n.77T>G" "r.77T>G" "-" "" "0001078722" "00018024" "90" "77" "0" "77" "0" "n.77T>G" "r.77T>G" "-" "" "0001078723" "00018024" "90" "75" "0" "75" "0" "n.75A>G" "r.75A>G" "-" "" "0001078724" "00018024" "90" "0" "0" "0" "0" "n.*3C>T" "-" "-" "" "0001078725" "00018024" "90" "0" "0" "0" "0" "n.*3C>T" "-" "-" "" "0001078726" "00018024" "90" "0" "0" "0" "0" "n.*3C>T" "-" "-" "" "0001078727" "00018024" "90" "0" "0" "0" "0" "n.*3C>T" "-" "-" "" "0001078728" "00018024" "90" "0" "0" "0" "0" "n.*3C>T" "-" "-" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 16 "{{screeningid}}" "{{variantid}}" "0000481636" "0001078270" "0000481637" "0001078271" "0000481638" "0001078272" "0000481639" "0001078273" "0000481640" "0001078274" "0000481641" "0001078275" "0000481821" "0001078719" "0000481821" "0001078724" "0000481822" "0001078720" "0000481822" "0001078725" "0000481823" "0001078721" "0000481823" "0001078726" "0000481824" "0001078722" "0000481824" "0001078727" "0000481825" "0001078723" "0000481825" "0001078728"