### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TLK2) # 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}}" "TLK2" "tousled-like kinase 2" "17" "q23" "unknown" "NC_000017.10" "UD_132378644114" "" "https://www.LOVD.nl/TLK2" "" "1" "11842" "11011" "608439" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/TLK2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2022-01-23 15:13:52" "00000" "2025-07-08 13:22:38" ## 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}}" "00021179" "TLK2" "transcript variant A" "001" "NM_006852.3" "" "NP_006843.2" "" "" "" "-271" "5169" "2253" "60556386" "60692842" "" "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" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00291" "ADHD" "attention deficit-hyperactivity disorder (ADHD)" "AD" "143465" "" "" "" "00006" "2013-12-20 10:47:26" "00006" "2021-12-10 21:51:32" "06356" "MRD57" "Mental retardation, autosomal dominant 57" "AD" "618050" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "TLK2" "06356" ## 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}}" "00213088" "" "" "" "1" "" "01807" "" "" "M" "" "" "" "0" "" "" "" "" "00273168" "" "" "" "1" "" "02061" "" "" "M" "" "Saudi Arabia" "" "0" "" "" "Arab" "" "00289357" "" "" "" "1" "" "01807" "" "" "F" "" "" "" "0" "" "" "" "" "00399863" "" "" "" "1" "" "00006" "{PMID:Pavinato 2022:33323470}" "2-generation family, 1 affected, unaffected non-carrier parent" "M" "" "" "" "0" "" "" "" "Fam1" "00399864" "" "" "" "4" "" "00006" "{PMID:Pavinato 2022:33323470}" "2-generation family, affected mother/daughter/2 sons" "F;M" "" "" "" "0" "" "" "" "Fam2" "00399865" "" "" "" "1" "" "00006" "{PMID:Pavinato 2022:33323470}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam3" "00401638" "" "" "" "1" "" "02494" "" "" "M" "no" "Spain" "" "" "" "" "" "192P" "00434872" "" "" "" "1" "" "00006" "{PMID:Gostain 2020:32960281}" "" "F" "" "Canada" "" "0" "" "" "" "CMC50" "00449856" "" "" "" "1" "" "03544" "" "" "F" "-" "- (not applicable)" "" "" "" "" "" "" "00451668" "" "" "" "1" "" "01164" "" "" "M" "no" "Germany" "" "0" "" "" "" "296565" "00457749" "" "" "" "1" "" "01164" "" "" "M" "" "Turkey" "" "0" "" "" "" "313033" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 11 "{{individualid}}" "{{diseaseid}}" "00213088" "00198" "00273168" "00291" "00289357" "00198" "00399863" "00139" "00399864" "00139" "00399865" "00139" "00401638" "00139" "00434872" "00198" "00449856" "00139" "00451668" "06356" "00457749" "06356" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 00291, 06356 ## Count = 9 "{{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/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000161568" "00198" "00213088" "01807" "Unknown" "" "Global developmental delay (HP:0001263); Autistic behavior (HP:0000729); Short stature (HP:0004322); Self-injurious behavior (HP:0100716)" "" "" "" "" "" "" "" "" "" "" "" "0000222976" "00198" "00289357" "01807" "Unknown" "" "Intellectual disability (HP:0001249); Behavioral abnormality (HP:0000708); High forehead (HP:0000348); Telecanthus (HP:0000506); Bulbous nose (HP:0000414)" "" "" "" "" "" "" "" "" "" "" "" "0000292903" "00139" "00399863" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "MRD57" "intellectual disability" "" "0000292904" "00139" "00399864" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "MRD57" "intellectual disability" "" "0000292905" "00139" "00399865" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "MRD57" "intellectual disability" "" "0000325111" "00198" "00434872" "00006" "Unknown" "" "global developmental delay, multiple congenital anomalies" "" "" "" "" "" "" "" "" "" "" "" "0000339003" "00139" "00449856" "03544" "Isolated (sporadic)" "" "HP:0001249, HP:0001263, HP:0000252" "" "" "" "" "" "" "" "" "MRD57" "intellectual disability" "" "0000340329" "06356" "00451668" "01164" "Unknown" "01y" "Neurodevelopmental delay, Hypotonia, Microcephaly, Gait disturbance, Joint hypermobility, Constipation, Hyperactivity, Tip-toe gait" "" "" "" "" "" "" "" "" "" "" "" "0000346198" "06356" "00457749" "01164" "Isolated (sporadic)" "10y" "Microcephaly, Autism, Intellectual disability, Developmental regression, EEG abnormality, Short stature, Decreased body weight, Upslanted palpebral fissure, Long nose, Abnormality of the outer ear" "" "" "" "" "" "" "" "" "" "" "" ## 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}}" "0000214163" "00213088" "1" "01807" "01807" "2019-01-09 13:24:30" "" "" "SEQ" "DNA" "" "" "0000274323" "00273168" "1" "02061" "02061" "2019-12-20 18:08:52" "" "" "SEQ-NG-IT" "DNA" "" "WES" "0000290527" "00289357" "1" "01807" "01807" "2020-03-05 10:32:08" "" "" "SEQ" "DNA" "" "" "0000401106" "00399863" "1" "00006" "00006" "2022-01-23 15:11:26" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000401107" "00399864" "1" "00006" "00006" "2022-01-23 15:16:10" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000401108" "00399865" "1" "00006" "00006" "2022-01-23 15:28:40" "" "" "arrayCGH" "DNA" "" "" "0000402881" "00401638" "1" "02494" "02494" "2022-02-01 10:52:40" "" "" "SEQ-NG" "DNA" "" "WES" "0000436344" "00434872" "1" "00006" "00006" "2023-04-07 18:27:15" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000451452" "00449856" "1" "03544" "03544" "2024-05-20 10:00:00" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "CES" "0000453272" "00451668" "1" "01164" "01164" "2024-06-26 10:46:26" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000459369" "00457749" "1" "01164" "01164" "2024-11-18 12:45:35" "" "" "SEQ-NG-I" "DNA" "Blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000453272" "TLK2" "0000459369" "TLK2" ## 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 = 55 "{{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}}" "0000256156" "0" "50" "17" "60637435" "60637435" "subst" "0" "01943" "TLK2_000003" "g.60637435A>G" "" "" "" "TLK2(NM_006852.3):c.779A>G (p.K260R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.62560074A>G" "" "VUS" "" "0000316643" "0" "50" "17" "60631057" "60631057" "subst" "0" "01943" "TLK2_000001" "g.60631057G>C" "" "" "" "TLK2(NM_001284333.1):c.661G>C (p.E221Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.62553696G>C" "" "VUS" "" "0000325536" "0" "50" "17" "60650662" "60650662" "dup" "0" "01804" "TLK2_000005" "g.60650662dup" "" "" "" "TLK2(NM_006852.3):c.1054_1055insA (p.(Ala353GlyfsTer7))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.62573301dup" "" "VUS" "" "0000325537" "0" "50" "17" "60655936" "60655936" "subst" "0" "01804" "TLK2_000006" "g.60655936G>T" "" "" "" "TLK2(NM_006852.3):c.1286+1G>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.62578575G>T" "" "VUS" "" "0000325539" "0" "50" "17" "60678112" "60678112" "subst" "0" "01804" "TLK2_000008" "g.60678112C>T" "" "" "" "TLK2(NM_006852.3):c.1651C>T (p.(Gln551Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.62600751C>T" "" "VUS" "" "0000341544" "0" "50" "17" "60685460" "60685460" "subst" "0" "02327" "TLK2_000013" "g.60685460C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.62608099C>G" "" "VUS" "" "0000343170" "0" "70" "17" "60599592" "60599592" "subst" "0" "02327" "TLK2_000010" "g.60599592C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.62522231C>T" "" "likely pathogenic" "" "0000350762" "0" "70" "17" "60683490" "60683490" "subst" "0" "02327" "TLK2_000012" "g.60683490G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.62606129G>A" "" "likely pathogenic" "" "0000351304" "0" "70" "17" "60678182" "60678182" "subst" "0" "02327" "TLK2_000011" "g.60678182G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.62600821G>T" "" "likely pathogenic" "" "0000351305" "0" "70" "17" "60685510" "60685510" "subst" "0" "02327" "TLK2_000014" "g.60685510G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.62608149G>A" "" "likely pathogenic" "" "0000446095" "0" "90" "17" "60678044" "60678044" "del" "0" "01807" "TLK2_000015" "g.60678044del" "" "" "" "1583delA" "" "Unknown" "" "" "0" "" "" "g.62600683del" "" "pathogenic" "" "0000562592" "0" "90" "17" "60637379" "60637379" "dup" "0" "01943" "TLK2_000016" "g.60637379dup" "" "" "" "TLK2(NM_001330418.1):c.276dupC (p.N93Qfs*3)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.62560018dup" "" "pathogenic" "" "0000562593" "0" "70" "17" "60650622" "60650622" "subst" "0" "02327" "TLK2_000017" "g.60650622C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.62573261C>G" "" "likely pathogenic" "" "0000562594" "0" "50" "17" "60651697" "60651715" "del" "0" "02325" "TLK2_000018" "g.60651697_60651715del" "" "" "" "TLK2(NM_001284333.1):c.1122-10_1130delTTTATGCTAGGCCCTCTTC, TLK2(NM_001284333.3):c.1122-10_1130delTTTATGCTAGGCCCTCTTC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.62574336_62574354del" "" "VUS" "" "0000562595" "0" "70" "17" "60678135" "60678135" "subst" "0" "02327" "TLK2_000019" "g.60678135C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.62600774C>G" "" "likely pathogenic" "" "0000562597" "0" "70" "17" "60685403" "60685403" "subst" "0" "02327" "TLK2_000021" "g.60685403C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.62608042C>G" "" "likely pathogenic" "" "0000562598" "0" "90" "17" "60689765" "60689765" "subst" "0" "02327" "TLK2_000022" "g.60689765C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.62612404C>T" "" "pathogenic" "" "0000616751" "0" "70" "17" "60679535" "60679535" "subst" "0" "01804" "TLK2_000023" "g.60679535C>T" "" "" "" "TLK2(NM_006852.3):c.1853C>T (p.(Thr618Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.62602174C>T" "" "likely pathogenic" "" "0000628276" "0" "70" "17" "60689762" "60689762" "subst" "0" "02061" "TLK2_000024" "g.60689762C>T" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.62612401C>T" "" "VUS" "" "0000647210" "0" "70" "17" "60629731" "60629732" "del" "0" "01807" "TLK2_000025" "g.60629731_60629732del" "" "" "" "600_601delGA" "" "Unknown" "" "" "0" "" "" "g.62552370_62552371del" "" "likely pathogenic" "" "0000680964" "0" "50" "17" "60651697" "60651715" "del" "0" "01943" "TLK2_000018" "g.60651697_60651715del" "" "" "" "TLK2(NM_001284333.1):c.1122-10_1130delTTTATGCTAGGCCCTCTTC, TLK2(NM_001284333.3):c.1122-10_1130delTTTATGCTAGGCCCTCTTC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000692430" "0" "70" "17" "60598179" "60598179" "subst" "0" "02327" "TLK2_000026" "g.60598179G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000692431" "0" "50" "17" "60655850" "60655850" "subst" "0" "01804" "TLK2_000027" "g.60655850A>T" "" "" "" "TLK2(NM_006852.3):c.1201A>T (p.(Ile401Phe)), TLK2(NM_006852.6):c.1201A>T (p.I401F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000726590" "0" "90" "17" "60642441" "60642441" "del" "0" "01943" "TLK2_000028" "g.60642441del" "" "" "" "TLK2(NM_001284333.1):c.911delA (p.H304Pfs*25)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000726591" "0" "70" "17" "60650622" "60650622" "subst" "0" "02329" "TLK2_000004" "g.60650622C>T" "" "" "" "TLK2(NM_001284333.3):c.1015C>T (p.R339W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000726592" "0" "30" "17" "60673946" "60673946" "subst" "0.000203214" "01943" "TLK2_000029" "g.60673946G>A" "" "" "" "TLK2(NM_001330418.1):c.1014G>A (p.K338=), TLK2(NM_006852.6):c.1461G>A (p.K487=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000726593" "0" "70" "17" "60678167" "60678167" "subst" "0" "02329" "TLK2_000020" "g.60678167A>G" "" "" "" "TLK2(NM_001284333.3):c.1772A>G (p.Y591C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000808183" "0" "30" "17" "60598178" "60598178" "subst" "2.4391E-5" "01943" "TLK2_000030" "g.60598178C>T" "" "" "" "TLK2(NM_001284333.1):c.126C>T (p.V42=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808184" "0" "30" "17" "60651772" "60651772" "subst" "0" "02327" "TLK2_000031" "g.60651772G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000834190" "0" "90" "17" "60678047" "60678047" "subst" "0" "00006" "TLK2_000032" "g.60678047A>G" "" "{PMID:Pavinato 2022:33323470}" "" "1652A>G (Asp551Gly)" "" "De novo" "" "" "0" "" "" "g.62600686A>G" "" "pathogenic (dominant)" "" "0000834191" "21" "90" "17" "60657542" "60657542" "subst" "0" "00006" "TLK2_000033" "g.60657542G>T" "" "{PMID:Pavinato 2022:33323470}" "" "1423G>T (Glu475Ter)" "" "Germline" "yes" "" "0" "" "" "g.62580181G>T" "" "pathogenic (dominant)" "" "0000834192" "0" "90" "17" "60683462" "60722398" "del" "0" "00006" "TLK2_000034" "g.(?_60683462)_(60722398_?)del" "" "{PMID:Pavinato 2022:33323470}" "" "hg19 g.(60683462–60722398)del" "de novo minimal 39kb del(17)(q23.2)" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000837160" "0" "70" "17" "60679466" "60679466" "subst" "0" "02494" "TLK2_000035" "g.60679466C>T" "" "" "" "" "" "De novo" "" "" "" "" "" "" "" "likely pathogenic (dominant)" "" "0000855038" "0" "30" "17" "60673946" "60673946" "subst" "0.000203214" "02325" "TLK2_000029" "g.60673946G>A" "" "" "" "TLK2(NM_001330418.1):c.1014G>A (p.K338=), TLK2(NM_006852.6):c.1461G>A (p.K487=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855039" "0" "50" "17" "60679466" "60679466" "subst" "0" "02325" "TLK2_000035" "g.60679466C>T" "" "" "" "TLK2(NM_006852.6):c.1784C>T (p.S595L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000894135" "0" "50" "17" "60654062" "60654062" "subst" "0" "02326" "TLK2_000036" "g.60654062T>G" "" "" "" "TLK2(NM_006852.6):c.1122-8T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000894136" "0" "50" "17" "60655850" "60655850" "subst" "0" "02327" "TLK2_000027" "g.60655850A>T" "" "" "" "TLK2(NM_006852.3):c.1201A>T (p.(Ile401Phe)), TLK2(NM_006852.6):c.1201A>T (p.I401F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000894137" "0" "70" "17" "60685471" "60685471" "subst" "0" "02327" "TLK2_000037" "g.60685471C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000907881" "0" "90" "17" "60629741" "60629741" "subst" "0" "03779" "TLK2_000038" "g.60629741C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000914941" "0" "50" "17" "60655850" "60655850" "subst" "0" "02325" "TLK2_000027" "g.60655850A>T" "" "" "" "TLK2(NM_006852.3):c.1201A>T (p.(Ile401Phe)), TLK2(NM_006852.6):c.1201A>T (p.I401F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000922706" "0" "70" "17" "60628092" "60637491" "del" "0" "00006" "TLK2_000039" "g.60628092_60637491del" "" "{PMID:Gostain 2020:32960281}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.62550731_62560130del" "" "VUS" "" "0000926614" "0" "50" "17" "60601631" "60601631" "subst" "0" "02329" "TLK2_000040" "g.60601631G>A" "" "" "" "TLK2(NM_006852.6):c.302G>A (p.G101D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000951005" "0" "90" "17" "60637440" "60637440" "subst" "0" "02327" "TLK2_000041" "g.60637440C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000969152" "0" "50" "17" "60631090" "60631090" "subst" "0" "02327" "TLK2_000042" "g.60631090G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000982696" "0" "30" "17" "60585922" "60585922" "subst" "0" "01804" "TLK2_000043" "g.60585922G>A" "" "" "" "TLK2(NM_001330418.3):c.-271+8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000982697" "0" "30" "17" "60601612" "60601612" "subst" "8.13484E-6" "01804" "TLK2_000044" "g.60601612G>A" "" "" "" "TLK2(NM_006852.6):c.283G>A (p.(Ala95Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000985344" "0" "70" "17" "60642499" "60642499" "subst" "0" "03544" "TLK2_000045" "g.60642499G>A" "" "" "" "" "" "De novo" "-" "rs1598620094" "0" "" "" "g.62565138G>A" "{CV:828197}" "pathogenic" "ACMG" "0000987848" "0" "50" "17" "60558569" "60558569" "subst" "0" "01164" "TLK2_000046" "g.60558569T>C" "" "" "" "" "ACMG/AMP: PVS1_STR, PM2_SUP" "Germline" "?" "" "" "" "" "g.62481208T>C" "" "VUS (!)" "ACMG" "0001003533" "0" "50" "17" "60689901" "60689901" "subst" "2.8627E-5" "01804" "TLK2_000047" "g.60689901C>T" "" "" "" "TLK2(NM_006852.3):c.2228C>T (p.(Ala743Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001017384" "0" "90" "17" "60642499" "60642499" "subst" "0" "01164" "TLK2_000045" "g.60642499G>A" "" "" "" "" "ACMG: PVS1, PS2, PS1_SUP, PM2_SUP; detected in at least 3 individuals with TLK2-associated phenotype in confimred de novo cosntellation\r\nSplice-donor variant, predicted out-of-frame exon 8 skipping, other variants affecting the same nucleotide are described as pathogenic" "De novo" "-" "" "0" "" "" "g.62565138G>A" "VCV000828197.6" "pathogenic (dominant)" "ACMG" "0001042058" "0" "50" "17" "60556647" "60556649" "dup" "0" "01804" "TLK2_000048" "g.60556647_60556649dup" "" "" "" "TLK2(NM_006852.6):c.-10_-8dup" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042059" "0" "30" "17" "60599638" "60599638" "subst" "0" "01804" "TLK2_000049" "g.60599638G>A" "" "" "" "TLK2(NM_006852.6):c.223+4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001042060" "0" "30" "17" "60600487" "60600487" "subst" "0.000258157" "01804" "TLK2_000050" "g.60600487A>G" "" "" "" "TLK2(NM_006852.6):c.224-8A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001042061" "0" "70" "17" "60683532" "60683532" "del" "0" "01804" "TLK2_000051" "g.60683532del" "" "" "" "TLK2(NM_006852.6):c.1901del (p.(Pro634Glnfs*14))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001046660" "0" "50" "17" "60685402" "60685402" "subst" "0" "02325" "TLK2_000052" "g.60685402C>T" "" "" "" "TLK2(NM_006852.6):c.1972C>T (p.P658S)" "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 TLK2 ## Count = 55 "{{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}}" "0000256156" "00021179" "50" "779" "0" "779" "0" "c.779A>G" "r.(?)" "p.(Lys260Arg)" "" "0000316643" "00021179" "50" "661" "0" "661" "0" "c.661G>C" "r.(?)" "p.(Glu221Gln)" "" "0000325536" "00021179" "50" "1055" "0" "1055" "0" "c.1055dup" "r.(?)" "p.(Ala353GlyfsTer7)" "" "0000325537" "00021179" "50" "1286" "1" "1286" "1" "c.1286+1G>T" "r.spl?" "p.?" "" "0000325539" "00021179" "50" "1651" "0" "1651" "0" "c.1651C>T" "r.(?)" "p.(Gln551Ter)" "" "0000341544" "00021179" "50" "2030" "0" "2030" "0" "c.2030C>G" "r.(?)" "p.(Ala677Gly)" "" "0000343170" "00021179" "70" "181" "0" "181" "0" "c.181C>T" "r.(?)" "p.(Arg61Ter)" "" "0000350762" "00021179" "70" "1860" "-1" "1860" "-1" "c.1860-1G>A" "r.spl?" "p.?" "" "0000351304" "00021179" "70" "1720" "1" "1720" "1" "c.1720+1G>T" "r.spl?" "p.?" "" "0000351305" "00021179" "70" "2079" "1" "2079" "1" "c.2079+1G>A" "r.spl?" "p.?" "" "0000446095" "00021179" "90" "1583" "0" "1583" "0" "c.1583del" "r.(?)" "p.(Asn528Metfs*7)" "" "0000562592" "00021179" "90" "723" "0" "723" "0" "c.723dup" "r.(?)" "p.(Asn242GlnfsTer3)" "" "0000562593" "00021179" "70" "1015" "0" "1015" "0" "c.1015C>G" "r.(?)" "p.(Arg339Gly)" "" "0000562594" "00021179" "50" "1121" "969" "1121" "987" "c.1121+969_1121+987del" "r.(=)" "p.(=)" "" "0000562595" "00021179" "70" "1674" "0" "1674" "0" "c.1674C>G" "r.(?)" "p.(Tyr558Ter)" "" "0000562597" "00021179" "70" "1973" "0" "1973" "0" "c.1973C>G" "r.(?)" "p.(Pro658Arg)" "" "0000562598" "00021179" "90" "2092" "0" "2092" "0" "c.2092C>T" "r.(?)" "p.(Arg698Ter)" "" "0000616751" "00021179" "70" "1853" "0" "1853" "0" "c.1853C>T" "r.(?)" "p.(Thr618Ile)" "" "0000628276" "00021179" "70" "2089" "0" "2089" "0" "c.2089C>T" "r.(?)" "p.(Arg697*)" "" "0000647210" "00021179" "70" "600" "0" "601" "0" "c.600_601del" "r.(?)" "p.(Gln200Hisfs*24)" "" "0000680964" "00021179" "50" "1121" "969" "1121" "987" "c.1121+969_1121+987del" "r.(=)" "p.(=)" "" "0000692430" "00021179" "70" "127" "0" "127" "0" "c.127G>A" "r.(?)" "p.(Gly43Arg)" "" "0000692431" "00021179" "50" "1201" "0" "1201" "0" "c.1201A>T" "r.(?)" "p.(Ile401Phe)" "" "0000726590" "00021179" "90" "911" "0" "911" "0" "c.911del" "r.(?)" "p.(His304Profs*25)" "" "0000726591" "00021179" "70" "1015" "0" "1015" "0" "c.1015C>T" "r.(?)" "p.(Arg339Trp)" "" "0000726592" "00021179" "30" "1461" "0" "1461" "0" "c.1461G>A" "r.(?)" "p.(Lys487=)" "" "0000726593" "00021179" "70" "1706" "0" "1706" "0" "c.1706A>G" "r.(?)" "p.(Tyr569Cys)" "" "0000808183" "00021179" "30" "126" "0" "126" "0" "c.126C>T" "r.(?)" "p.(Val42=)" "" "0000808184" "00021179" "30" "1121" "1044" "1121" "1044" "c.1121+1044G>A" "r.(=)" "p.(=)" "" "0000834190" "00021179" "90" "1586" "0" "1586" "0" "c.1586A>G" "r.(?)" "p.(Asp529Gly)" "" "0000834191" "00021179" "90" "1357" "0" "1357" "0" "c.1357G>T" "r.(?)" "p.(Glu453*)" "" "0000834192" "00021179" "90" "0" "0" "0" "0" "c.(?_1860-29)_*2916{0}" "r.?" "p.?" "_19i_22_" "0000837160" "00021179" "70" "1784" "0" "1784" "0" "c.1784C>T" "r.(?)" "p.(Ser595Leu)" "" "0000855038" "00021179" "30" "1461" "0" "1461" "0" "c.1461G>A" "r.(?)" "p.(Lys487=)" "" "0000855039" "00021179" "50" "1784" "0" "1784" "0" "c.1784C>T" "r.(?)" "p.(Ser595Leu)" "" "0000894135" "00021179" "50" "1122" "-8" "1122" "-8" "c.1122-8T>G" "r.(=)" "p.(=)" "" "0000894136" "00021179" "50" "1201" "0" "1201" "0" "c.1201A>T" "r.(?)" "p.(Ile401Phe)" "" "0000894137" "00021179" "70" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Gln681*)" "" "0000907881" "00021179" "90" "610" "0" "610" "0" "c.610C>T" "r.(?)" "p.(Gln204Ter)" "" "0000914941" "00021179" "50" "1201" "0" "1201" "0" "c.1201A>T" "r.(?)" "p.(Ile401Phe)" "" "0000922706" "00021179" "70" "532" "-1571" "831" "4" "c.532-1571_831+4del" "r.spl" "p.?" "" "0000926614" "00021179" "50" "302" "0" "302" "0" "c.302G>A" "r.(?)" "p.(Gly101Asp)" "" "0000951005" "00021179" "90" "784" "0" "784" "0" "c.784C>T" "r.(?)" "p.(Arg262*)" "" "0000969152" "00021179" "50" "694" "0" "694" "0" "c.694G>A" "r.(?)" "p.(Glu232Lys)" "" "0000982696" "00021179" "30" "82" "-12212" "82" "-12212" "c.82-12212G>A" "r.(=)" "p.(=)" "" "0000982697" "00021179" "30" "283" "0" "283" "0" "c.283G>A" "r.(?)" "p.(Ala95Thr)" "" "0000985344" "00021179" "70" "968" "1" "968" "1" "c.968+1G>A" "r.spl" "p.?" "" "0000987848" "00021179" "50" "81" "2" "81" "2" "c.81+2T>C" "r.spl?" "p.?" "Ex2" "0001003533" "00021179" "50" "2228" "0" "2228" "0" "c.2228C>T" "r.(?)" "p.(Ala743Val)" "" "0001017384" "00021179" "90" "968" "1" "968" "1" "c.968+1G>A" "r.spl" "p.?" "8i" "0001042058" "00021179" "50" "-10" "0" "-8" "0" "c.-10_-8dup" "r.(?)" "p.(=)" "" "0001042059" "00021179" "30" "223" "4" "223" "4" "c.223+4G>A" "r.spl?" "p.?" "" "0001042060" "00021179" "30" "224" "-8" "224" "-8" "c.224-8A>G" "r.(=)" "p.(=)" "" "0001042061" "00021179" "70" "1901" "0" "1901" "0" "c.1901del" "r.(?)" "p.(Pro634Glnfs*14)" "" "0001046660" "00021179" "50" "1972" "0" "1972" "0" "c.1972C>T" "r.(?)" "p.(Pro658Ser)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 11 "{{screeningid}}" "{{variantid}}" "0000214163" "0000446095" "0000274323" "0000628276" "0000290527" "0000647210" "0000401106" "0000834190" "0000401107" "0000834191" "0000401108" "0000834192" "0000402881" "0000837160" "0000436344" "0000922706" "0000451452" "0000985344" "0000453272" "0000987848" "0000459369" "0001017384"