### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = RNU6-2) # 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}}" "RNU6-2" "RNA, U6 small nuclear 2" "19" "p13.3" "unknown" "NC_000019.9" "NC_000019.9" "" "http://www.LOVD.nl/RNU6-2" "" "1" "34270" "103625684" "" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "" "-1" "" "-1" "00006" "2025-01-13 00:00:00" "00006" "2025-01-14 12:23:03" "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}}" "00025969" "RNU6-2" "small nuclear RNA" "000" "NR_125730.1" "" "" "" "" "" "1" "108" "0" "1" "1" "00006" "2025-01-13 21:20:00" "" "" ## 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}}" "00112" "RP" "retinitis pigmentosa (RP)" "" "268000" "" "" "" "00001" "2013-02-21 17:12:36" "00006" "2021-01-18 09:53:26" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "RNU6-2" "00112" ## Individuals ## Do not remove or alter this header ## ## Count = 38 "{{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}}" "00459807" "" "" "" "1" "" "00006" "{DOI:Quinodoz 2025:10.1101/2025.01.06.24317169}" "1 RP family" "" "" "" "" "0" "" "" "" "" "00459808" "" "" "" "1" "" "00006" "{DOI:Quinodoz 2025:10.1101/2025.01.06.24317169}" "1 RP family" "" "" "" "" "0" "" "" "" "" "00459809" "" "" "" "1" "" "00006" "{DOI:Quinodoz 2025:10.1101/2025.01.06.24317169}" "1 RP family" "" "" "" "" "0" "" "" "" "" "00459918" "" "" "" "1" "" "00006" "{DOI:Quinodoz 2025:10.1101/2025.01.06.24317169}" "1 RP family" "" "" "" "" "0" "" "" "" "" "00459919" "" "" "" "1" "" "00006" "{DOI:Quinodoz 2025:10.1101/2025.01.06.24317169}" "1 RP family" "" "" "" "" "0" "" "" "" "" "00459920" "" "" "" "1" "" "00006" "{DOI:Quinodoz 2025:10.1101/2025.01.06.24317169}" "1 RP family" "" "" "" "" "0" "" "" "" "" "00459921" "" "" "" "6" "" "00006" "{DOI:Quinodoz 2025:10.1101/2025.01.06.24317169}" "6 RP families" "" "" "" "" "0" "" "" "" "" "00459922" "" "" "" "1" "" "00006" "{DOI:Quinodoz 2025:10.1101/2025.01.06.24317169}" "1 RP family" "" "" "" "" "0" "" "" "" "" "00459923" "" "" "" "1" "" "00006" "{DOI:Quinodoz 2025:10.1101/2025.01.06.24317169}" "1 RP family" "" "" "" "" "0" "" "" "" "" "00459924" "" "" "" "4" "" "00006" "{DOI:Quinodoz 2025:10.1101/2025.01.06.24317169}" "4 RP families" "" "" "" "" "0" "" "" "" "" "00459925" "" "" "" "1" "" "00006" "{DOI:Quinodoz 2025:10.1101/2025.01.06.24317169}" "1 RP family" "" "" "" "" "0" "" "" "" "" "00459926" "" "" "" "1" "" "00006" "{DOI:Quinodoz 2025:10.1101/2025.01.06.24317169}" "1 RP family" "" "" "" "" "0" "" "" "" "" "00459927" "" "" "" "1" "" "00006" "{DOI:Quinodoz 2025:10.1101/2025.01.06.24317169}" "1 RP family" "" "" "" "" "0" "" "" "" "" "00459928" "" "" "" "1" "" "00006" "{DOI:Quinodoz 2025:10.1101/2025.01.06.24317169}" "1 RP family" "" "" "" "" "0" "" "" "" "" "00459929" "" "" "" "2" "" "00006" "{DOI:Quinodoz 2025:10.1101/2025.01.06.24317169}" "2 RP families" "" "" "" "" "0" "" "" "" "" "00459930" "" "" "" "6" "" "00006" "{DOI:Quinodoz 2025:10.1101/2025.01.06.24317169}" "6 RP families" "" "" "" "" "0" "" "" "" "" "00459931" "" "" "" "2" "" "00006" "{DOI:Quinodoz 2025:10.1101/2025.01.06.24317169}" "2 RP families" "" "" "" "" "0" "" "" "" "" "00459932" "" "" "" "1" "" "00006" "{DOI:Quinodoz 2025:10.1101/2025.01.06.24317169}" "1 RP family" "" "" "" "" "0" "" "" "" "" "00459933" "" "" "" "1" "" "00006" "{DOI:Quinodoz 2025:10.1101/2025.01.06.24317169}" "1 RP family" "" "" "" "" "0" "" "" "" "" "00459934" "" "" "" "1" "" "00006" "{DOI:Quinodoz 2025:10.1101/2025.01.06.24317169}" "1 RP family" "" "" "" "" "0" "" "" "" "" "00459935" "" "" "" "18" "" "00006" "{DOI:Quinodoz 2025:10.1101/2025.01.06.24317169}" "18 RP families" "" "" "" "" "0" "" "" "" "" "00459936" "" "" "" "281" "" "00006" "{DOI:Quinodoz 2025:10.1101/2025.01.06.24317169}" "281 RP families" "" "" "" "" "0" "" "" "" "" "00460087" "" "" "" "1" "" "02230" "{DOI:Quinodoz 2025:10.1101/2025.01.06.24317169}" "2-generation family, 1 affected, unaffected parents" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "RNU6-2-FamA" "00460088" "" "" "" "1" "" "02230" "{DOI:Quinodoz 2025:10.1101/2025.01.06.24317169}" "2-generation family, 1 affected, unaffected parents" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "RNU6-2-FamB" "00460089" "" "" "" "1" "" "02230" "{DOI:Quinodoz 2025:10.1101/2025.01.06.24317169}" "2-generation family, 1 affected, unaffected non carrier parents" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "India;Asia" "RNU6-2-FamC" "00460090" "" "" "" "7" "" "02230" "{DOI:Quinodoz 2025:10.1101/2025.01.06.24317169}" "family, 7 affected" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "RNU6-2-FamD" "00460091" "" "" "" "1" "" "02230" "{DOI:Quinodoz 2025:10.1101/2025.01.06.24317169}" "2-generation family, 1 affected, unaffected non carrier parents" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "RNU6-2-FamE" "00460092" "" "" "" "5" "" "02230" "{DOI:Quinodoz 2025:10.1101/2025.01.06.24317169}" "family, 5 affected" "" "" "Italy" "" "0" "" "" "" "RNU6-2-FamF" "00460093" "" "" "" "2" "" "02230" "{DOI:Quinodoz 2025:10.1101/2025.01.06.24317169}" "family, 2 affected" "" "" "Germany" "" "0" "" "" "" "RNU6-2-FamG" "00460094" "" "" "" "1" "" "02230" "{DOI:Quinodoz 2025:10.1101/2025.01.06.24317169}" "family, 1 affected, unaffected parents" "" "" "England;China;Canada;Russia" "" "0" "" "" "" "RNU6-2-FamH" "00460095" "" "" "" "1" "" "02230" "{DOI:Quinodoz 2025:10.1101/2025.01.06.24317169}" "2-generation family, 1 affected, unaffected non carrier parents" "" "" "Italy" "" "0" "" "" "" "RNU6-2-FamI" "00460096" "" "" "" "11" "" "02230" "{DOI:Quinodoz 2025:10.1101/2025.01.06.24317169}" "family, 11 affected" "" "" "Poland" "" "0" "" "" "" "RNU6-2-FamJ" "00460097" "" "" "" "4" "" "02230" "{DOI:Quinodoz 2025:10.1101/2025.01.06.24317169}" "family, 4 affected" "" "" "Czech Republic" "" "0" "" "" "" "RNU6-2-FamK" "00460098" "" "" "" "7" "" "02230" "{DOI:Quinodoz 2025:10.1101/2025.01.06.24317169}" "family, 7 affected" "" "" "Belgium" "" "0" "" "" "" "RNU6-2-FamL" "00460099" "" "" "" "1" "" "02230" "{DOI:Quinodoz 2025:10.1101/2025.01.06.24317169}" "2-generation family, 1 affected, unaffected parents" "" "" "Belgium" "" "0" "" "" "" "RNU6-2-FamM" "00460100" "" "" "" "3" "" "02230" "{DOI:Quinodoz 2025:10.1101/2025.01.06.24317169}" "family, 3 affected" "" "" "Mexico" "" "0" "" "" "" "RNU6-2-FamN" "00480565" "" "" "" "1" "" "00006" "{PMID:Nava 2024:40379786}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "France" "" "0" "" "" "" "" "00480566" "" "" "" "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 = 38 "{{individualid}}" "{{diseaseid}}" "00459807" "00112" "00459808" "00112" "00459809" "00112" "00459918" "00112" "00459919" "00112" "00459920" "00112" "00459921" "00112" "00459922" "00112" "00459923" "00112" "00459924" "00112" "00459925" "00112" "00459926" "00112" "00459927" "00112" "00459928" "00112" "00459929" "00112" "00459930" "00112" "00459931" "00112" "00459932" "00112" "00459933" "00112" "00459934" "00112" "00459935" "00112" "00459936" "00112" "00460087" "00112" "00460088" "00112" "00460089" "00112" "00460090" "00112" "00460091" "00112" "00460092" "00112" "00460093" "00112" "00460094" "00112" "00460095" "00112" "00460096" "00112" "00460097" "00112" "00460098" "00112" "00460099" "00112" "00460100" "00112" "00480565" "00198" "00480566" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00112, 00198 ## Count = 16 "{{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}}" "0000347808" "00112" "00460087" "02230" "Isolated (sporadic)" "" "retinitis pigmentosa" "" "" "" "" "" "" "" "RP" "retinitis pigmentosa" "" "0000347809" "00112" "00460088" "02230" "Isolated (sporadic)" "" "retinitis pigmentosa" "" "" "" "" "" "" "" "RP" "retinitis pigmentosa" "" "0000347810" "00112" "00460089" "02230" "Isolated (sporadic)" "" "retinitis pigmentosa" "" "" "" "" "" "" "" "RP" "retinitis pigmentosa" "" "0000347811" "00112" "00460090" "02230" "Familial, autosomal dominant" "" "retinitis pigmentosa" "" "" "" "" "" "" "" "RP" "retinitis pigmentosa (AD)" "" "0000347812" "00112" "00460091" "02230" "Isolated (sporadic)" "" "retinitis pigmentosa" "" "" "" "" "" "" "" "RP" "retinitis pigmentosa" "" "0000347813" "00112" "00460092" "02230" "Familial, autosomal dominant" "" "retinitis pigmentosa" "" "" "" "" "" "" "" "RP" "retinitis pigmentosa (AD)" "" "0000347814" "00112" "00460093" "02230" "Familial, autosomal dominant" "" "retinitis pigmentosa" "" "" "" "" "" "" "" "RP" "retinitis pigmentosa (AD)" "" "0000347815" "00112" "00460094" "02230" "Familial, autosomal dominant" "" "retinitis pigmentosa" "" "" "" "" "" "" "" "RP" "retinitis pigmentosa (AD)" "" "0000347816" "00112" "00460095" "02230" "Isolated (sporadic)" "" "retinitis pigmentosa" "" "" "" "" "" "" "" "RP" "retinitis pigmentosa" "" "0000347817" "00112" "00460096" "02230" "Familial, autosomal dominant" "" "retinitis pigmentosa" "" "" "" "" "" "" "" "RP" "retinitis pigmentosa (AD)" "" "0000347818" "00112" "00460097" "02230" "Familial, autosomal dominant" "" "retinitis pigmentosa" "" "" "" "" "" "" "" "RP" "retinitis pigmentosa (AD)" "" "0000347819" "00112" "00460098" "02230" "Familial, autosomal dominant" "" "retinitis pigmentosa" "" "" "" "" "" "" "" "RP" "retinitis pigmentosa (AD)" "" "0000347820" "00112" "00460099" "02230" "Isolated (sporadic)" "" "retinitis pigmentosa" "" "" "" "" "" "" "" "RP" "retinitis pigmentosa" "" "0000347821" "00112" "00460100" "02230" "Familial, autosomal dominant" "" "retinitis pigmentosa" "" "" "" "" "" "" "" "RP" "retinitis pigmentosa (AD)" "" "0000364990" "00198" "00480565" "00006" "Unknown" "" "hemeralopia; visual field defect; slow decrease in visual acuity; perifoveal ring of hyperautofluorescence; decreased light- and dark-adapted electroretinogram amplitude" "" "" "" "" "" "" "" "" "" "" "0000364991" "00198" "00480566" "00006" "Unknown" "" "autism; expressive language delay; stereotypy; recurrent hand flapping; feeding difficulties; sleep disturbance; behavioral abnormality; global developmental delay" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 38 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000461437" "00459807" "1" "00006" "00006" "2025-01-14 11:20:06" "" "" "SEQ" "DNA" "" "" "0000461438" "00459808" "1" "00006" "00006" "2025-01-14 11:20:06" "" "" "SEQ" "DNA" "" "" "0000461439" "00459809" "1" "00006" "00006" "2025-01-14 11:20:06" "" "" "SEQ" "DNA" "" "" "0000461548" "00459918" "1" "00006" "00006" "2025-01-14 11:20:06" "" "" "SEQ" "DNA" "" "" "0000461549" "00459919" "1" "00006" "00006" "2025-01-14 11:20:06" "" "" "SEQ" "DNA" "" "" "0000461550" "00459920" "1" "00006" "00006" "2025-01-14 11:20:06" "" "" "SEQ" "DNA" "" "" "0000461551" "00459921" "1" "00006" "00006" "2025-01-14 11:20:06" "" "" "SEQ" "DNA" "" "" "0000461552" "00459922" "1" "00006" "00006" "2025-01-14 11:20:06" "" "" "SEQ" "DNA" "" "" "0000461553" "00459923" "1" "00006" "00006" "2025-01-14 11:20:06" "" "" "SEQ" "DNA" "" "" "0000461554" "00459924" "1" "00006" "00006" "2025-01-14 11:20:06" "" "" "SEQ" "DNA" "" "" "0000461555" "00459925" "1" "00006" "00006" "2025-01-14 11:20:06" "" "" "SEQ" "DNA" "" "" "0000461556" "00459926" "1" "00006" "00006" "2025-01-14 11:20:06" "" "" "SEQ" "DNA" "" "" "0000461557" "00459927" "1" "00006" "00006" "2025-01-14 11:20:06" "" "" "SEQ" "DNA" "" "" "0000461558" "00459928" "1" "00006" "00006" "2025-01-14 11:20:06" "" "" "SEQ" "DNA" "" "" "0000461559" "00459929" "1" "00006" "00006" "2025-01-14 11:20:06" "" "" "SEQ" "DNA" "" "" "0000461560" "00459930" "1" "00006" "00006" "2025-01-14 11:20:06" "" "" "SEQ" "DNA" "" "" "0000461561" "00459931" "1" "00006" "00006" "2025-01-14 11:20:06" "" "" "SEQ" "DNA" "" "" "0000461562" "00459932" "1" "00006" "00006" "2025-01-14 11:20:06" "" "" "SEQ" "DNA" "" "" "0000461563" "00459933" "1" "00006" "00006" "2025-01-14 11:20:06" "" "" "SEQ" "DNA" "" "" "0000461564" "00459934" "1" "00006" "00006" "2025-01-14 11:20:06" "" "" "SEQ" "DNA" "" "" "0000461565" "00459935" "1" "00006" "00006" "2025-01-14 11:20:06" "" "" "SEQ" "DNA" "" "" "0000461566" "00459936" "1" "00006" "00006" "2025-01-14 11:20:06" "" "" "SEQ" "DNA" "" "" "0000461717" "00460087" "1" "02230" "00006" "2025-01-18 09:42:42" "" "" "SEQ-NG" "DNA" "" "Genomics England" "0000461718" "00460088" "1" "02230" "00006" "2025-01-18 09:42:42" "" "" "SEQ-NG" "DNA" "" "Genomics England" "0000461719" "00460089" "1" "02230" "00006" "2025-01-18 09:42:42" "" "" "SEQ-NG" "DNA" "" "Genomics England" "0000461720" "00460090" "1" "02230" "00006" "2025-01-18 09:42:42" "" "" "SEQ-NG" "DNA" "" "Genomics England" "0000461721" "00460091" "1" "02230" "00006" "2025-01-18 09:42:42" "" "" "SEQ-NG" "DNA" "" "Genomics England" "0000461722" "00460092" "1" "02230" "00006" "2025-01-18 09:42:42" "" "" "SEQ" "DNA" "" "" "0000461723" "00460093" "1" "02230" "00006" "2025-01-18 09:42:42" "" "" "SEQ" "DNA" "" "" "0000461724" "00460094" "1" "02230" "00006" "2025-01-18 09:42:42" "" "" "SEQ" "DNA" "" "" "0000461725" "00460095" "1" "02230" "00006" "2025-01-18 09:42:42" "" "" "SEQ" "DNA" "" "" "0000461726" "00460096" "1" "02230" "00006" "2025-01-18 09:42:42" "" "" "SEQ" "DNA" "" "" "0000461727" "00460097" "1" "02230" "00006" "2025-01-18 09:42:42" "" "" "SEQ" "DNA" "" "" "0000461728" "00460098" "1" "02230" "00006" "2025-01-18 09:42:42" "" "" "SEQ" "DNA" "" "" "0000461729" "00460099" "1" "02230" "00006" "2025-01-18 09:42:42" "" "" "SEQ-NG" "DNA" "" "WGS" "0000461730" "00460100" "1" "02230" "00006" "2025-01-18 09:42:42" "" "" "SEQ" "DNA" "" "" "0000482211" "00480565" "1" "00006" "00006" "2026-07-02 14:20:09" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000482212" "00480566" "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 = 14 "{{screeningid}}" "{{geneid}}" "0000461717" "RNU6-2" "0000461718" "RNU6-2" "0000461719" "RNU6-2" "0000461720" "RNU6-2" "0000461721" "RNU6-2" "0000461722" "RNU6-2" "0000461723" "RNU6-2" "0000461724" "RNU6-2" "0000461725" "RNU6-2" "0000461726" "RNU6-2" "0000461727" "RNU6-2" "0000461728" "RNU6-2" "0000461729" "RNU6-2" "0000461730" "RNU6-2" ## 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 = 38 "{{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}}" "0001020753" "0" "50" "19" "1021532" "1021532" "subst" "0" "00006" "RNU6-2_000002" "g.1021532G>T" "" "{DOI:Quinodoz 2025:10.1101/2025.01.06.24317169}" "" "" "ACMG PM2" "Germline" "" "" "0" "" "" "g.1021533G>T" "" "VUS" "" "0001020754" "0" "50" "19" "1021574" "1021574" "subst" "0" "00006" "RNU6-2_000008" "g.1021574G>A" "" "{DOI:Quinodoz 2025:10.1101/2025.01.06.24317169}" "" "" "ACMG PM2, PP3" "Germline" "" "" "0" "" "" "g.1021575G>A" "" "VUS" "" "0001020755" "0" "50" "19" "1021615" "1021615" "subst" "0" "00006" "RNU6-2_000016" "g.1021615G>C" "" "{DOI:Quinodoz 2025:10.1101/2025.01.06.24317169}" "" "" "ACMG PM2" "Germline" "" "" "0" "" "" "g.1021616G>C" "" "VUS" "" "0001020864" "0" "30" "19" "1021524" "1021524" "subst" "0" "00006" "RNU6-2_000001" "g.1021524C>T" "" "{DOI:Quinodoz 2025:10.1101/2025.01.06.24317169}" "" "" "ACMG BS2" "Germline" "" "" "0" "" "" "g.1021525C>T" "" "likely benign" "" "0001020865" "0" "30" "19" "1021536" "1021536" "subst" "0" "00006" "RNU6-2_000003" "g.1021536G>A" "" "{DOI:Quinodoz 2025:10.1101/2025.01.06.24317169}" "" "" "ACMG BS2" "Germline" "" "" "0" "" "" "g.1021537G>A" "" "likely benign" "" "0001020866" "0" "30" "19" "1021537" "1021537" "subst" "0" "00006" "RNU6-2_000004" "g.1021537C>T" "" "{DOI:Quinodoz 2025:10.1101/2025.01.06.24317169}" "" "" "ACMG BS2" "Germline" "" "" "0" "" "" "g.1021538C>T" "" "likely benign" "" "0001020867" "0" "30" "19" "1021553" "1021554" "ins" "0" "00006" "RNU6-2_000005" "g.1021553_1021554insT" "" "{DOI:Quinodoz 2025:10.1101/2025.01.06.24317169}" "" "" "ACMG BS2" "Germline" "" "" "0" "" "" "g.1021554_1021555insT" "" "likely benign" "" "0001020868" "0" "30" "19" "1021557" "1021557" "subst" "0" "00006" "RNU6-2_000006" "g.1021557C>T" "" "{DOI:Quinodoz 2025:10.1101/2025.01.06.24317169}" "" "" "ACMG BS2" "Germline" "" "" "0" "" "" "g.1021558C>T" "" "likely benign" "" "0001020869" "0" "30" "19" "1021566" "1021566" "subst" "0" "00006" "RNU6-2_000007" "g.1021566G>A" "" "{DOI:Quinodoz 2025:10.1101/2025.01.06.24317169}" "" "" "ACMG BS2" "Germline" "" "" "0" "" "" "g.1021567G>A" "" "likely benign" "" "0001020870" "0" "30" "19" "1021574" "1021575" "ins" "0" "00006" "RNU6-2_000009" "g.1021574_1021575insT" "" "{DOI:Quinodoz 2025:10.1101/2025.01.06.24317169}" "" "" "ACMG BS2" "Germline" "" "" "0" "" "" "g.1021575_1021576insT" "" "likely benign" "" "0001020871" "0" "30" "19" "1021577" "1021577" "dup" "0" "00006" "RNU6-2_000012" "g.1021577dup" "" "{DOI:Quinodoz 2025:10.1101/2025.01.06.24317169}" "" "" "ACMG BS2" "Germline" "" "" "0" "" "" "g.1021578dup" "" "likely benign" "" "0001020872" "0" "30" "19" "1021580" "1021580" "subst" "0" "00006" "RNU6-2_000013" "g.1021580C>T" "" "{DOI:Quinodoz 2025:10.1101/2025.01.06.24317169}" "" "" "ACMG BS2" "Germline" "" "" "0" "" "" "g.1021581C>T" "" "likely benign" "" "0001020873" "0" "30" "19" "1021591" "1021591" "subst" "0" "00006" "RNU6-2_000014" "g.1021591G>A" "" "{DOI:Quinodoz 2025:10.1101/2025.01.06.24317169}" "" "" "ACMG BS2" "Germline" "" "" "0" "" "" "g.1021592G>A" "" "likely benign" "" "0001020874" "0" "30" "19" "1021597" "1021597" "subst" "0" "00006" "RNU6-2_000015" "g.1021597C>T" "" "{DOI:Quinodoz 2025:10.1101/2025.01.06.24317169}" "" "" "ACMG BS2" "Germline" "" "" "0" "" "" "g.1021598C>T" "" "likely benign" "" "0001020875" "0" "30" "19" "1021617" "1021617" "subst" "0" "00006" "RNU6-2_000017" "g.1021617T>A" "" "{DOI:Quinodoz 2025:10.1101/2025.01.06.24317169}" "" "" "ACMG BS2" "Germline" "" "" "0" "" "" "g.1021618T>A" "" "likely benign" "" "0001020876" "0" "30" "19" "1021620" "1021620" "subst" "0" "00006" "RNU6-2_000018" "g.1021620A>G" "" "{DOI:Quinodoz 2025:10.1101/2025.01.06.24317169}" "" "" "ACMG BS2" "Germline" "" "" "0" "" "" "g.1021621A>G" "" "likely benign" "" "0001020877" "0" "30" "19" "1021621" "1021621" "subst" "0" "00006" "RNU6-2_000019" "g.1021621T>C" "" "{DOI:Quinodoz 2025:10.1101/2025.01.06.24317169}" "" "" "ACMG BS2" "Germline" "" "" "0" "" "" "g.1021622T>C" "" "likely benign" "" "0001020878" "0" "30" "19" "1021622" "1021622" "subst" "0" "00006" "RNU6-2_000020" "g.1021622A>G" "" "{DOI:Quinodoz 2025:10.1101/2025.01.06.24317169}" "" "" "ACMG BS2" "Germline" "" "" "0" "" "" "g.1021623A>G" "" "likely benign" "" "0001020879" "0" "30" "19" "1021623" "1021623" "subst" "0" "00006" "RNU6-2_000021" "g.1021623T>C" "" "{DOI:Quinodoz 2025:10.1101/2025.01.06.24317169}" "" "" "ACMG BS2" "Germline" "" "" "0" "" "" "g.1021624T>C" "" "likely benign" "" "0001020880" "0" "30" "19" "1021624" "1021624" "subst" "0" "00006" "RNU6-2_000022" "g.1021624T>C" "" "{DOI:Quinodoz 2025:10.1101/2025.01.06.24317169}" "" "" "ACMG BS2" "Germline" "" "" "0" "" "" "g.1021625T>C" "" "likely benign" "" "0001020881" "0" "30" "19" "1021626" "1021626" "subst" "0" "00006" "RNU6-2_000023" "g.1021626T>C" "" "{DOI:Quinodoz 2025:10.1101/2025.01.06.24317169}" "" "" "ACMG BS2" "Germline" "" "" "0" "" "" "g.1021627T>C" "" "likely benign" "" "0001020882" "0" "30" "19" "1021627" "1021627" "subst" "0" "00006" "RNU6-2_000024" "g.1021627T>C" "" "{DOI:Quinodoz 2025:10.1101/2025.01.06.24317169}" "" "" "ACMG BS2" "Germline" "" "" "0" "" "" "g.1021628T>C" "" "likely benign" "" "0001021063" "0" "90" "19" "1021575" "1021576" "ins" "0" "02230" "RNU6-2_000010" "g.1021575_1021576insG" "" "{DOI:Quinodoz 2025:10.1101/2025.01.06.24317169}" "" "" "ACMG PS3, PS4, PM2, PM6, PP3; suspected de novo" "Germline/De novo (untested)" "" "" "0" "" "" "g.1021576_1021577insG" "" "pathogenic (dominant)" "ACMG" "0001021064" "0" "90" "19" "1021575" "1021576" "ins" "0" "02230" "RNU6-2_000010" "g.1021575_1021576insG" "" "{DOI:Quinodoz 2025:10.1101/2025.01.06.24317169}" "" "" "ACMG PS3, PS4, PM2, PM6, PP3; suspected de novo" "Germline/De novo (untested)" "" "" "0" "" "" "g.1021576_1021577insG" "" "pathogenic (dominant)" "ACMG" "0001021065" "0" "90" "19" "1021575" "1021576" "ins" "0" "02230" "RNU6-2_000010" "g.1021575_1021576insG" "" "{DOI:Quinodoz 2025:10.1101/2025.01.06.24317169}" "" "" "ACMG PS3, PS4, PM2, PM6, PP3" "De novo" "" "" "0" "" "" "g.1021576_1021577insG" "" "pathogenic (dominant)" "ACMG" "0001021066" "1" "90" "19" "1021575" "1021576" "ins" "0" "02230" "RNU6-2_000010" "g.1021575_1021576insG" "" "{DOI:Quinodoz 2025:10.1101/2025.01.06.24317169}" "" "" "ACMG PS3, PS4, PM2, PM6, PP3" "Germline" "" "" "0" "" "" "g.1021576_1021577insG" "" "pathogenic (dominant)" "ACMG" "0001021067" "0" "90" "19" "1021575" "1021576" "ins" "0" "02230" "RNU6-2_000010" "g.1021575_1021576insG" "" "{DOI:Quinodoz 2025:10.1101/2025.01.06.24317169}" "" "" "ACMG PS3, PS4, PM2, PM6, PP3" "De novo" "" "" "0" "" "" "g.1021576_1021577insG" "" "pathogenic (dominant)" "ACMG" "0001021068" "1" "90" "19" "1021575" "1021576" "ins" "0" "02230" "RNU6-2_000010" "g.1021575_1021576insG" "" "{DOI:Quinodoz 2025:10.1101/2025.01.06.24317169}" "" "" "ACMG PS3, PS4, PM2, PM6, PP3" "Germline" "" "" "0" "" "" "g.1021576_1021577insG" "" "pathogenic (dominant)" "ACMG" "0001021069" "1" "90" "19" "1021575" "1021576" "ins" "0" "02230" "RNU6-2_000010" "g.1021575_1021576insG" "" "{DOI:Quinodoz 2025:10.1101/2025.01.06.24317169}" "" "" "ACMG PS3, PS4, PM2, PM6, PP3" "Germline" "" "" "0" "" "" "g.1021576_1021577insG" "" "pathogenic (dominant)" "ACMG" "0001021070" "1" "90" "19" "1021575" "1021576" "ins" "0" "02230" "RNU6-2_000010" "g.1021575_1021576insG" "" "{DOI:Quinodoz 2025:10.1101/2025.01.06.24317169}" "" "" "ACMG PS3, PS4, PM2, PM6, PP3" "Germline" "" "" "0" "" "" "g.1021576_1021577insG" "" "pathogenic (dominant)" "ACMG" "0001021071" "0" "90" "19" "1021575" "1021576" "ins" "0" "02230" "RNU6-2_000010" "g.1021575_1021576insG" "" "{DOI:Quinodoz 2025:10.1101/2025.01.06.24317169}" "" "" "ACMG PS3, PS4, PM2, PM6, PP3" "De novo" "" "" "0" "" "" "g.1021576_1021577insG" "" "pathogenic (dominant)" "ACMG" "0001021072" "1" "90" "19" "1021575" "1021576" "ins" "0" "02230" "RNU6-2_000010" "g.1021575_1021576insG" "" "{DOI:Quinodoz 2025:10.1101/2025.01.06.24317169}" "" "" "ACMG PS3, PS4, PM2, PM6, PP3" "Germline" "" "" "0" "" "" "g.1021576_1021577insG" "" "pathogenic (dominant)" "ACMG" "0001021073" "1" "90" "19" "1021575" "1021576" "ins" "0" "02230" "RNU6-2_000010" "g.1021575_1021576insG" "" "{DOI:Quinodoz 2025:10.1101/2025.01.06.24317169}" "" "" "ACMG PS3, PS4, PM2, PM6, PP3" "Germline" "" "" "0" "" "" "g.1021576_1021577insG" "" "pathogenic (dominant)" "ACMG" "0001021074" "1" "90" "19" "1021575" "1021576" "ins" "0" "02230" "RNU6-2_000010" "g.1021575_1021576insG" "" "{DOI:Quinodoz 2025:10.1101/2025.01.06.24317169}" "" "" "ACMG PS3, PS4, PM2, PM6, PP3" "Germline" "" "" "0" "" "" "g.1021576_1021577insG" "" "pathogenic (dominant)" "ACMG" "0001021075" "0" "90" "19" "1021575" "1021576" "ins" "0" "02230" "RNU6-2_000010" "g.1021575_1021576insG" "" "{DOI:Quinodoz 2025:10.1101/2025.01.06.24317169}" "" "" "ACMG PS3, PS4, PM2, PM6, PP3; suspected de novo" "Germline/De novo (untested)" "" "" "0" "" "" "g.1021576_1021577insG" "" "pathogenic (dominant)" "ACMG" "0001021076" "1" "70" "19" "1021576" "1021577" "ins" "0" "02230" "RNU6-2_000011" "g.1021576_1021577insG" "" "{DOI:Quinodoz 2025:10.1101/2025.01.06.24317169}" "" "" "ACMG PS3, PP1, PP3" "Germline" "" "" "0" "" "" "g.1021577_1021578insG" "" "likely pathogenic (dominant)" "ACMG" "0001079263" "0" "50" "19" "1021575" "1021576" "ins" "0" "00006" "RNU6-2_000010" "g.1021575_1021576insG" "" "{PMID:Nava 2024:40379786}" "" "ENST00000384627.1" "" "De novo" "" "" "0" "" "" "g.1021576_1021577insG" "" "VUS" "" "0001079264" "0" "50" "19" "1021593" "1021593" "subst" "0" "00006" "chr19_008795" "g.1021593A>G" "" "{PMID:Nava 2024:40379786}" "" "ENST00000384627.1" "" "De novo" "" "" "0" "" "" "g.1021594A>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 RNU6-2 ## Count = 38 "{{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}}" "0001020753" "00025969" "50" "12" "0" "12" "0" "n.12G>T" "r.(12G>T)" "-" "" "0001020754" "00025969" "50" "54" "0" "54" "0" "n.54G>A" "r.(54G>A)" "-" "" "0001020755" "00025969" "50" "95" "0" "95" "0" "n.95G>C" "r.(95G>C)" "-" "" "0001020864" "00025969" "30" "4" "0" "4" "0" "n.4C>T" "r.(4C>T)" "-" "" "0001020865" "00025969" "30" "16" "0" "16" "0" "n.16G>A" "r.(16G>A)" "-" "" "0001020866" "00025969" "30" "17" "0" "17" "0" "n.17C>T" "r.(17C>T)" "-" "" "0001020867" "00025969" "30" "33" "0" "34" "0" "n.33_34insT" "r.(33_34insT)" "-" "" "0001020868" "00025969" "30" "37" "0" "37" "0" "n.37C>T" "r.(37C>T)" "-" "" "0001020869" "00025969" "30" "46" "0" "46" "0" "n.46G>A" "r.(46G>A)" "-" "" "0001020870" "00025969" "30" "54" "0" "55" "0" "n.54_55insT" "r.(54_55insT)" "-" "" "0001020871" "00025969" "30" "57" "0" "57" "0" "n.57dup" "r.(57dup)" "-" "" "0001020872" "00025969" "30" "60" "0" "60" "0" "n.60C>T" "r.(60C>T)" "-" "" "0001020873" "00025969" "30" "71" "0" "71" "0" "n.71G>A" "r.(71G>A)" "-" "" "0001020874" "00025969" "30" "77" "0" "77" "0" "n.77C>T" "r.(77C>T)" "-" "" "0001020875" "00025969" "30" "97" "0" "97" "0" "n.97T>A" "r.(97T>A)" "-" "" "0001020876" "00025969" "30" "100" "0" "100" "0" "n.100A>G" "r.(100A>G)" "-" "" "0001020877" "00025969" "30" "101" "0" "101" "0" "n.101T>C" "r.(101T>C)" "-" "" "0001020878" "00025969" "30" "102" "0" "102" "0" "n.102A>G" "r.(102A>G)" "-" "" "0001020879" "00025969" "30" "103" "0" "103" "0" "n.103T>C" "r.(103T>C)" "-" "" "0001020880" "00025969" "30" "104" "0" "104" "0" "n.104T>C" "r.(104T>C)" "-" "" "0001020881" "00025969" "30" "106" "0" "106" "0" "n.106T>C" "r.(106T>C)" "-" "" "0001020882" "00025969" "30" "107" "0" "107" "0" "n.107T>C" "r.(107T>C)" "-" "" "0001021063" "00025969" "90" "55" "0" "56" "0" "n.55_56insG" "r.(55_56insG)" "-" "" "0001021064" "00025969" "90" "55" "0" "56" "0" "n.55_56insG" "r.(55_56insG)" "-" "" "0001021065" "00025969" "90" "55" "0" "56" "0" "n.55_56insG" "r.(55_56insG)" "-" "" "0001021066" "00025969" "90" "55" "0" "56" "0" "n.55_56insG" "r.(55_56insG)" "-" "" "0001021067" "00025969" "90" "55" "0" "56" "0" "n.55_56insG" "r.(55_56insG)" "-" "" "0001021068" "00025969" "90" "55" "0" "56" "0" "n.55_56insG" "r.(55_56insG)" "-" "" "0001021069" "00025969" "90" "55" "0" "56" "0" "n.55_56insG" "r.(55_56insG)" "-" "" "0001021070" "00025969" "90" "55" "0" "56" "0" "n.55_56insG" "r.(55_56insG)" "-" "" "0001021071" "00025969" "90" "55" "0" "56" "0" "n.55_56insG" "r.(55_56insG)" "-" "" "0001021072" "00025969" "90" "55" "0" "56" "0" "n.55_56insG" "r.(55_56insG)" "-" "" "0001021073" "00025969" "90" "55" "0" "56" "0" "n.55_56insG" "r.(55_56insG)" "-" "" "0001021074" "00025969" "90" "55" "0" "56" "0" "n.55_56insG" "r.(55_56insG)" "-" "" "0001021075" "00025969" "90" "55" "0" "56" "0" "n.55_56insG" "r.(55_56insG)" "-" "" "0001021076" "00025969" "70" "56" "0" "57" "0" "n.56_57insG" "r.(56_57insG)" "-" "" "0001079263" "00025969" "50" "55" "0" "56" "0" "n.55_56insG" "r.(?)" "-" "" "0001079264" "00025969" "50" "73" "0" "73" "0" "n.73A>G" "r.(?)" "-" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 38 "{{screeningid}}" "{{variantid}}" "0000461437" "0001020753" "0000461438" "0001020754" "0000461439" "0001020755" "0000461548" "0001020864" "0000461549" "0001020865" "0000461550" "0001020866" "0000461551" "0001020867" "0000461552" "0001020868" "0000461553" "0001020869" "0000461554" "0001020870" "0000461555" "0001020871" "0000461556" "0001020872" "0000461557" "0001020873" "0000461558" "0001020874" "0000461559" "0001020875" "0000461560" "0001020876" "0000461561" "0001020877" "0000461562" "0001020878" "0000461563" "0001020879" "0000461564" "0001020880" "0000461565" "0001020881" "0000461566" "0001020882" "0000461717" "0001021063" "0000461718" "0001021064" "0000461719" "0001021065" "0000461720" "0001021066" "0000461721" "0001021067" "0000461722" "0001021068" "0000461723" "0001021069" "0000461724" "0001021070" "0000461725" "0001021071" "0000461726" "0001021072" "0000461727" "0001021073" "0000461728" "0001021074" "0000461729" "0001021075" "0000461730" "0001021076" "0000482211" "0001079263" "0000482212" "0001079264"