### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CSNK2B) # 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}}" "CSNK2B" "casein kinase 2, beta polypeptide" "6" "p21.33" "unknown" "NC_000006.11" "UD_136086403580" "" "https://www.LOVD.nl/CSNK2B" "" "1" "2460" "1460" "115441" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/CSNK2B_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2017-05-16 17:38:57" "00000" "2026-01-20 18:57:21" ## 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}}" "00005769" "CSNK2B" "casein kinase 2, beta polypeptide" "001" "NM_001320.5" "" "NP_001311.3" "" "" "" "-340" "788" "648" "31633657" "31637843" "" "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}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "04270" "epilepsy" "epilepsy" "" "" "" "" "" "00006" "2015-05-14 16:00:06" "00006" "2017-09-07 14:25:59" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "06723" "POBINDS" "Poirier-Bienvenu neurodevelopmental syndrome" "AD" "618732" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "CSNK2B" "06723" ## Individuals ## Do not remove or alter this header ## ## Count = 14 "{{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}}" "00104565" "" "" "" "1" "" "01836" "{PMID:Poirier 2017:28585349}, {DOI:Poirier 2017:10.1002/humu.23270}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "France" "" "0" "" "" "" "28585349-FamPat2" "00104566" "" "" "" "1" "" "01836" "{PMID:Poirier 2017:28585349}, {DOI:Poirier 2017:10.1002/humu.23270}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "France" "" "0" "" "" "" "28585349-FamPat1" "00226156" "" "" "" "1" "" "03104" "" "" "" "" "China" "" "0" "" "" "" "" "00226157" "" "" "" "1" "" "03104" "" "" "" "" "China" "" "0" "" "" "" "" "00226158" "" "" "" "1" "" "03104" "" "" "" "" "China" "" "0" "" "" "" "" "00226159" "" "" "" "1" "" "03104" "" "" "" "" "China" "" "0" "" "" "" "" "00226160" "" "" "" "1" "" "03104" "" "" "" "" "China" "" "0" "" "" "" "" "00226161" "" "" "" "1" "" "03104" "" "" "" "" "China" "" "0" "" "" "" "" "00226162" "" "" "" "1" "" "03104" "" "" "" "" "China" "" "0" "" "" "" "" "00226163" "" "" "" "1" "" "03104" "" "" "" "" "China" "" "0" "" "" "" "" "00408813" "" "" "" "1" "" "01164" "" "" "M" "no" "Germany" "" "0" "" "" "" "196081" "00454826" "" "" "" "3" "" "00006" "{PMID:Dekker 2023:36669495}" "2-generation family, affected sister/brother and father" "F" "no" "Netherlands" "" "0" "" "" "" "FamPat2" "00454827" "" "" "00454826" "1" "" "00006" "{PMID:Dekker 2023:36669495}" "brother" "M" "no" "Netherlands" "" "0" "" "" "" "FamPatB" "00454828" "" "" "00454826" "1" "" "00006" "{PMID:Dekker 2023:36669495}" "father" "M" "no" "Netherlands" "" "0" "" "" "" "FamPatF" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 14 "{{individualid}}" "{{diseaseid}}" "00104565" "00139" "00104566" "00139" "00226156" "04270" "00226157" "04270" "00226158" "04270" "00226159" "04270" "00226160" "04270" "00226161" "04270" "00226162" "04270" "00226163" "04270" "00408813" "06723" "00454826" "05611" "00454827" "05611" "00454828" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 04270, 05611, 06723 ## Count = 14 "{{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}}" "0000082482" "00139" "00104565" "01836" "Isolated (sporadic)" "" "born at term, uneventful pregnancy; birth weight/height/head circumference normal; mild developmental delay10m-crawling, 18m walking; 18m myoclonic epilepsy; 4y brain MRI normal, ECG generalized spike/(poly)spike waves discharges; 7y difficulty speech/language/walking, no pyramidal and cerebellar syndromes; 12y never seizure-free (1 every 10d; 19y minor facial dysmorphy, dental anomalies, strabismus, down turned corners mouth" "" "" "" "" "" "" "" "" "intellectual disability" "0000082483" "00139" "00104566" "01836" "Isolated (sporadic)" "" "born at term after, uneventful pregnancy; birth weight/height/head circumference normal; mild developmental delay, hypotonia, lingual protrusion; 11m-crawling, 24m-walking; 6y-intellectual disability, severe attention and learning difficulties, autistic traits preferring to be alone; 7y-started to speak few words; 10y facial dysmorphy with mandibular prognathism, open mouth fixed O position, protruded tongue, bushy eyebrows, flat philtrum; MRI brain and ECG normal; metabolic investigations normal except rISED serum creatine phosphokinase (341IU)" "" "" "" "" "" "" "" "" "intellectual disability" "0000171268" "04270" "00226156" "03104" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "0000171269" "04270" "00226157" "03104" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "0000171270" "04270" "00226158" "03104" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "0000171272" "04270" "00226159" "03104" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "0000171273" "04270" "00226160" "03104" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "0000171274" "04270" "00226161" "03104" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "0000171276" "04270" "00226162" "03104" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "0000171277" "04270" "00226163" "03104" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "0000300932" "06723" "00408813" "01164" "Isolated (sporadic)" "02y" "Seizure, Focal-onset seizure, Neurodevelopmental delay, Delayed speech and language development" "" "" "" "" "" "" "" "" "" "0000343436" "05611" "00454826" "00006" "Familial, autosomal dominant" "1y1m" "see paper; ..., intellectual disability, epilepsy, hypotonia, hypermobile joints; bushy eyebrows, short philtrum, large nose, broad nasal tip, large incisors, clinodactyly digits 1-4-4" "" "" "" "" "" "" "" "POBINDS" "neurodevelopmental delay" "0000343437" "05611" "00454827" "00006" "Familial, autosomal dominant" "" "see paper; ..., similar, more severe phenotype as sister, died of pneumonia in adulthood" "" "" "" "" "" "" "" "POBINDS" "neurodevelopmental delay" "0000343438" "05611" "00454828" "00006" "Familial, autosomal dominant" "" "see paper; ..., behavioral problems, mild intellectual disability premature memory loss" "" "" "" "" "" "" "" "POBINDS" "neurodevelopmental delay" ## Screenings ## Do not remove or alter this header ## ## Count = 14 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000105037" "00104565" "1" "01836" "01836" "2017-05-15 11:35:54" "00006" "2019-03-01 10:54:20" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "blood" "" "0000105038" "00104566" "1" "01836" "01836" "2017-05-15 12:24:57" "00006" "2019-03-01 10:54:57" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "" "0000227232" "00226156" "1" "03104" "03104" "2019-03-01 04:14:34" "" "" "SEQ-NG-I" "DNA" "" "" "0000227233" "00226157" "1" "03104" "03104" "2019-03-01 04:20:21" "" "" "SEQ-NG-I" "RNA" "" "" "0000227234" "00226158" "1" "03104" "03104" "2019-03-01 04:25:14" "" "" "SEQ-NG-I" "DNA" "" "" "0000227235" "00226159" "1" "03104" "03104" "2019-03-01 04:30:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000227236" "00226160" "1" "03104" "03104" "2019-03-01 04:34:06" "" "" "SEQ-NG-I" "DNA" "" "" "0000227237" "00226161" "1" "03104" "03104" "2019-03-01 04:38:01" "" "" "SEQ-NG-I" "DNA" "" "" "0000227238" "00226162" "1" "03104" "03104" "2019-03-01 04:40:48" "" "" "SEQ-NG-I" "DNA" "" "" "0000227239" "00226163" "1" "03104" "03104" "2019-03-01 04:43:55" "" "" "SEQ-NG-I" "DNA" "" "" "0000410078" "00408813" "1" "01164" "01164" "2022-04-28 13:55:21" "" "" "SEQ-NG-I" "DNA" "" "" "0000456437" "00454826" "1" "00006" "00006" "2024-09-28 10:13:26" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WES trio" "0000456438" "00454827" "1" "00006" "00006" "2024-09-28 10:13:26" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "" "0000456439" "00454828" "1" "00006" "00006" "2024-09-28 10:13:26" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 17 "{{screeningid}}" "{{geneid}}" "0000105037" "CSNK2B" "0000105037" "EYS" "0000105037" "SLC4A7" "0000105037" "ZNF131" "0000105038" "BMP15" "0000105038" "CSNK2B" "0000105038" "GPR144" "0000105038" "HEPH" "0000105038" "PLXNA3" "0000227232" "CSNK2B" "0000227233" "CSNK2B" "0000227234" "CSNK2B" "0000227235" "CSNK2B" "0000227236" "CSNK2B" "0000227237" "CSNK2B" "0000227239" "CSNK2B" "0000410078" "CSNK2B" ## 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}}" "0000170282" "0" "70" "6" "31635749" "31635749" "subst" "0" "01836" "CSNK2B_000001" "g.31635749T>G" "" "{PMID:Poirier 2017:28585349}, {DOI:Poirier 2017:10.1002/humu.23270}" "" "" "" "De novo" "" "" "0" "" "" "g.31667972T>G" "" "likely pathogenic" "" "0000170287" "0" "70" "6" "31636951" "31636951" "subst" "0" "01836" "CSNK2B_000002" "g.31636951T>C" "" "{PMID:Poirier 2017:28585349}, {DOI:Poirier 2017:10.1002/humu.23270}" "" "" "" "De novo" "" "" "0" "" "" "g.31669174T>C" "" "likely pathogenic" "" "0000330886" "0" "50" "6" "31626904" "31626904" "subst" "0.00186657" "01804" "C6orf47_000001" "g.31626904C>G" "" "" "" "C6orf47(NM_021184.3):c.821G>C (p.(Trp274Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31659127C>G" "" "VUS" "" "0000330887" "0" "50" "6" "31627667" "31627667" "subst" "0.00220986" "01804" "C6orf47_000002" "g.31627667T>C" "" "" "" "C6orf47(NM_021184.3):c.58A>G (p.(Met20Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31659890T>C" "" "VUS" "" "0000461290" "0" "90" "6" "31637137" "31637137" "subst" "0" "03104" "CSNK2B_000006" "g.31637137T>G" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.31669360T>G" "" "pathogenic" "" "0000461291" "0" "90" "6" "31637138" "31637138" "subst" "0" "03104" "CSNK2B_000007" "g.31637138G>T" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.31669361G>T" "" "pathogenic" "" "0000461292" "0" "90" "6" "31636405" "31636405" "del" "0" "03104" "CSNK2B_000005" "g.31636405del" "" "" "" "264delC" "" "De novo" "" "" "0" "" "" "g.31668628del" "" "pathogenic" "" "0000461293" "0" "90" "6" "31637615" "31637615" "subst" "0" "03104" "CSNK2B_000008" "g.31637615T>G" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.31669838T>G" "" "likely pathogenic" "" "0000461294" "0" "90" "6" "31637676" "31637676" "dup" "0" "03104" "CSNK2B_000011" "g.31637676dup" "" "" "" "620_621insC" "" "De novo" "" "" "0" "" "" "g.31669899dup" "" "pathogenic" "" "0000461295" "0" "90" "6" "31634621" "31634621" "subst" "0" "03104" "CSNK2B_000010" "g.31634621G>T" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.31666844G>T" "" "pathogenic" "" "0000461296" "0" "90" "6" "31636914" "31636914" "subst" "0" "03104" "CSNK2B_000009" "g.31636914G>C" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.31669137G>C" "" "pathogenic" "" "0000461297" "0" "90" "6" "31637094" "31637094" "subst" "0" "03104" "CSNK2B_000004" "g.31637094A>G" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.31669317A>G" "" "pathogenic" "" "0000528259" "0" "30" "6" "31630170" "31630170" "subst" "3.7399E-5" "01804" "APOM_000002" "g.31630170C>T" "" "" "" "GPANK1(NM_001199237.1):c.944G>A (p.(Arg315Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31662393C>T" "" "likely benign" "" "0000528260" "0" "50" "6" "31630171" "31630171" "subst" "3.74006E-5" "01804" "APOM_000003" "g.31630171G>A" "" "" "" "GPANK1(NM_001199237.1):c.943C>T (p.(Arg315Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31662394G>A" "" "VUS" "" "0000528262" "0" "70" "6" "31635733" "31635733" "subst" "0" "02329" "CSNK2B_000012" "g.31635733T>A" "" "" "" "CSNK2B(NM_001320.7):c.161T>A (p.L54*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31667956T>A" "" "likely pathogenic" "" "0000655552" "0" "70" "6" "31637286" "31637286" "subst" "0" "02327" "CSNK2B_000014" "g.31637286G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31669509G>A" "" "likely pathogenic" "" "0000689694" "0" "70" "6" "31635679" "31635679" "subst" "0" "02327" "CSNK2B_000016" "g.31635679T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000802483" "0" "50" "6" "31637285" "31637285" "subst" "0" "02325" "CSNK2B_000017" "g.31637285G>C" "" "" "" "CSNK2B(NM_001320.7):c.557G>C (p.R186T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000847327" "11" "50" "6" "31637174" "31637174" "subst" "0" "01164" "CSNK2B_000018" "g.31637174C>G" "" "" "LanerMGZ" "" "ACMG: PVS1, PM2_SUP; BS2; conflicting evidence! variant was inherited from the apparently unaffected father, all previously published path variants in CSNK2B were de novo" "Germline" "?" "" "0" "" "" "" "" "VUS (!)" "ACMG" "0000851163" "0" "70" "6" "31636401" "31636401" "subst" "0" "02327" "CSNK2B_000019" "g.31636401C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000851164" "0" "70" "6" "31637611" "31637611" "subst" "0" "02327" "CSNK2B_000020" "g.31637611A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000851165" "0" "90" "6" "31637612" "31637612" "subst" "0" "02325" "CSNK2B_000021" "g.31637612G>C" "" "" "" "CSNK2B(NM_001320.7):c.558-1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000880050" "0" "70" "6" "31637225" "31637225" "subst" "0" "03779" "CSNK2B_000022" "g.31637225T>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000887149" "0" "70" "6" "31636886" "31636886" "subst" "0" "02329" "CSNK2B_000023" "g.31636886C>T" "" "" "" "CSNK2B(NM_001320.7):c.304C>T (p.Q102*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000977155" "0" "70" "6" "31636396" "31636396" "subst" "0" "02329" "CSNK2B_000024" "g.31636396C>T" "" "" "" "CSNK2B(NM_001320.7):c.256C>T (p.(Arg86Cys), p.R86C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000977156" "0" "50" "6" "31639004" "31639004" "subst" "4.12303E-6" "01804" "CSNK2B_000025" "g.31639004T>C" "" "" "" "LY6G5B(NM_021221.2):c.130T>C (p.(Ser44Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995651" "0" "70" "6" "31635663" "31635663" "subst" "0" "01804" "CSNK2B_000026" "g.31635663C>T" "" "" "" "CSNK2B(NM_001282385.1):c.91C>T (p.(Gln31*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000995652" "0" "90" "6" "31637676" "31637676" "dup" "0" "02327" "CSNK2B_000011" "g.31637676dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001010120" "11" "90" "6" "31636886" "31636886" "subst" "0" "00006" "CSNK2B_000023" "g.31636886C>T" "" "{PMID:Dekker 2023:36669495}" "" "" "monoallelic expression" "Germline" "" "" "0" "" "" "g.31669109C>T" "" "pathogenic (dominant)" "" "0001010121" "11" "90" "6" "31636886" "31636886" "subst" "0" "00006" "CSNK2B_000023" "g.31636886C>T" "" "{PMID:Dekker 2023:36669495}" "" "" "" "Germline" "" "" "0" "" "" "g.31669109C>T" "" "pathogenic (dominant)" "" "0001010122" "0" "90" "6" "31636886" "31636886" "subst" "0" "00006" "CSNK2B_000023" "g.31636886C>T" "" "{PMID:Dekker 2023:36669495}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.31669109C>T" "" "pathogenic (dominant)" "" "0001014200" "0" "50" "6" "31635709" "31635709" "subst" "0" "02327" "CSNK2B_000027" "g.31635709A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025201" "0" "50" "6" "31635655" "31635655" "subst" "0" "02325" "CSNK2B_000028" "g.31635655A>G" "" "" "" "CSNK2B(NM_001320.7):c.83A>G (p.D28G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035670" "0" "90" "6" "31636396" "31636396" "subst" "0" "01804" "CSNK2B_000024" "g.31636396C>T" "" "" "" "CSNK2B(NM_001320.7):c.256C>T (p.(Arg86Cys), p.R86C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001035671" "0" "90" "6" "31637144" "31637144" "del" "0" "02326" "CSNK2B_000029" "g.31637144del" "" "" "" "CSNK2B(NM_001320.7):c.416delA (p.K139Sfs*88)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001052296" "0" "50" "6" "31637092" "31637092" "subst" "0" "01804" "CSNK2B_000030" "g.31637092C>A" "" "" "" "CSNK2B(NM_001320.7):c.368-4C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001064521" "0" "90" "6" "31635711" "31635711" "subst" "0" "01804" "CSNK2B_000031" "g.31635711C>T" "" "" "" "CSNK2B(NM_001320.7):c.139C>T (p.(Arg47*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001064522" "0" "50" "6" "31637641" "31637641" "subst" "0" "02325" "CSNK2B_000032" "g.31637641G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "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 CSNK2B ## 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}}" "0000170282" "00005769" "70" "175" "2" "175" "2" "c.175+2T>G" "r.73_175del" "p.Val25Metfs*13" "3i" "0000170287" "00005769" "70" "367" "2" "367" "2" "c.367+2T>C" "r.[292_367del,367_368ins[gc;367+3_368-1]" "p.?" "5i" "0000330886" "00005769" "50" "-7093" "0" "-7093" "0" "c.-7093C>G" "r.(?)" "p.(=)" "" "0000330887" "00005769" "50" "-6330" "0" "-6330" "0" "c.-6330T>C" "r.(?)" "p.(=)" "" "0000461290" "00005769" "90" "409" "0" "409" "0" "c.409T>G" "r.(?)" "p.(Cys137Gly)" "" "0000461291" "00005769" "90" "410" "0" "410" "0" "c.410G>T" "r.(?)" "p.(Cys137Phe)" "" "0000461292" "00005769" "90" "265" "0" "265" "0" "c.265del" "r.(?)" "p.(Thr90Profs*44)" "" "0000461293" "00005769" "90" "560" "0" "560" "0" "c.560T>G" "r.(?)" "p.(Leu187Arg)" "" "0000461294" "00005769" "90" "621" "0" "621" "0" "c.621dup" "r.(?)" "p.(Lys208Glnfs*38)" "" "0000461295" "00005769" "90" "13" "0" "13" "0" "c.13G>T" "r.(?)" "p.(Glu5*)" "" "0000461296" "00005769" "90" "332" "0" "332" "0" "c.332G>C" "r.(?)" "p.(Arg111Pro)" "" "0000461297" "00005769" "90" "368" "-2" "368" "-2" "c.368-2A>G" "r.spl" "p.?" "" "0000528259" "00005769" "30" "-3827" "0" "-3827" "0" "c.-3827C>T" "r.(?)" "p.(=)" "" "0000528260" "00005769" "50" "-3826" "0" "-3826" "0" "c.-3826G>A" "r.(?)" "p.(=)" "" "0000528262" "00005769" "70" "161" "0" "161" "0" "c.161T>A" "r.(?)" "p.(Leu54Ter)" "" "0000655552" "00005769" "70" "557" "1" "557" "1" "c.557+1G>A" "r.spl?" "p.?" "" "0000689694" "00005769" "70" "107" "0" "107" "0" "c.107T>C" "r.(?)" "p.(Leu36Pro)" "" "0000802483" "00005769" "50" "557" "0" "557" "0" "c.557G>C" "r.(?)" "p.(Arg186Thr)" "" "0000847327" "00005769" "50" "446" "0" "446" "0" "c.446C>G" "r.(?)" "p.(Ser149*)" "" "0000851163" "00005769" "70" "261" "0" "261" "0" "c.261C>A" "r.(?)" "p.(Tyr87*)" "" "0000851164" "00005769" "70" "558" "-2" "558" "-2" "c.558-2A>G" "r.spl?" "p.?" "" "0000851165" "00005769" "90" "558" "-1" "558" "-1" "c.558-1G>C" "r.spl?" "p.?" "" "0000880050" "00005769" "70" "497" "0" "497" "0" "c.497T>G" "r.(?)" "p.(Met166Arg)" "" "0000887149" "00005769" "70" "304" "0" "304" "0" "c.304C>T" "r.(?)" "p.(Gln102*)" "" "0000977155" "00005769" "70" "256" "0" "256" "0" "c.256C>T" "r.(?)" "p.(Arg86Cys)" "" "0000977156" "00005769" "50" "1949" "0" "1949" "0" "c.*1301T>C" "r.(=)" "p.(=)" "" "0000995651" "00005769" "70" "91" "0" "91" "0" "c.91C>T" "r.(?)" "p.(Gln31*)" "" "0000995652" "00005769" "90" "621" "0" "621" "0" "c.621dup" "r.(?)" "p.(Lys208Glnfs*38)" "" "0001010120" "00005769" "90" "304" "0" "304" "0" "c.304C>T" "r.304c>u" "p.Gln102Ter" "" "0001010121" "00005769" "90" "304" "0" "304" "0" "c.304C>T" "r.(304c>u)" "p.(Gln102Ter)" "" "0001010122" "00005769" "90" "304" "0" "304" "0" "c.304C>T" "r.(304c>u)" "p.(Gln102Ter)" "" "0001014200" "00005769" "50" "137" "0" "137" "0" "c.137A>G" "r.(?)" "p.(Tyr46Cys)" "" "0001025201" "00005769" "50" "83" "0" "83" "0" "c.83A>G" "r.(?)" "p.(Asp28Gly)" "" "0001035670" "00005769" "90" "256" "0" "256" "0" "c.256C>T" "r.(?)" "p.(Arg86Cys)" "" "0001035671" "00005769" "90" "416" "0" "416" "0" "c.416del" "r.(?)" "p.(Lys139Serfs*88)" "" "0001052296" "00005769" "50" "368" "-4" "368" "-4" "c.368-4C>A" "r.spl?" "p.?" "" "0001064521" "00005769" "90" "139" "0" "139" "0" "c.139C>T" "r.(?)" "p.(Arg47*)" "" "0001064522" "00005769" "50" "586" "0" "586" "0" "c.586G>C" "r.(?)" "p.(Ala196Pro)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 14 "{{screeningid}}" "{{variantid}}" "0000105037" "0000170282" "0000105038" "0000170287" "0000227232" "0000461290" "0000227233" "0000461291" "0000227234" "0000461292" "0000227235" "0000461293" "0000227236" "0000461294" "0000227237" "0000461295" "0000227238" "0000461296" "0000227239" "0000461297" "0000410078" "0000847327" "0000456437" "0001010120" "0000456438" "0001010121" "0000456439" "0001010122"