### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TUBB2B) # 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}}" "TUBB2B" "tubulin, beta 2B class IIb" "6" "p25.2" "unknown" "NG_016715.1" "UD_132118132477" "" "https://www.LOVD.nl/TUBB2B" "" "1" "30829" "347733" "612850" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/TUBB2B_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2017-03-02 12:50:52" "00000" "2025-05-05 21:14:00" ## 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}}" "00022131" "TUBB2B" "tubulin, beta 2B" "001" "NM_178012.4" "" "NP_821080.1" "" "" "" "-191" "1828" "1338" "3227968" "3224495" "" "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" "02894" "CDCBM7" "dysplasia, cortical, complex, with other brain malformations, type 7 (CDCBM-7, polymicrogyria, asymmetric)" "AD" "610031" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05228" "CDCBM" "dysplasia, cortical, complex, with other brain malformations (CDCBM)" "" "" "" "" "" "00006" "2017-03-01 17:25:46" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "TUBB2B" "00139" "TUBB2B" "02894" ## Individuals ## Do not remove or alter this header ## ## Count = 12 "{{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}}" "00100447" "" "" "" "1" "" "01469" "" "" "F" "?" "" "" "0" "" "" "" "" "00100448" "" "" "" "1" "" "01469" "" "" "M" "?" "" "" "0" "" "" "" "" "00100449" "" "" "" "1" "" "01469" "" "" "M" "?" "" "" "0" "" "" "" "" "00100450" "" "" "" "1" "" "01469" "" "" "M" "?" "" "" "0" "" "" "" "" "00100451" "" "" "" "1" "" "01469" "" "" "M" "?" "" "" "0" "" "" "" "" "00100452" "" "" "" "1" "" "01469" "" "" "F" "-" "" "" "0" "" "" "" "" "00100453" "" "" "" "1" "" "01469" "" "" "M" "?" "" "" "0" "" "" "" "" "00100454" "" "" "" "1" "" "01469" "" "" "F" "?" "" "" "0" "" "" "" "" "00100455" "" "" "" "1" "" "01469" "" "" "F" "?" "" "" "0" "" "" "" "" "00324742" "" "" "" "1" "" "01164" "" "prenatal screening" "?" "?" "Spain" "" "0" "" "" "" "174338" "00393393" "" "" "" "1" "" "01164" "" "" "?" "no" "Germany" "" "0" "" "" "" "188538" "00449742" "" "" "" "1" "" "03544" "" "" "F" "-" "- (not applicable)" "" "" "" "" "white" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 12 "{{individualid}}" "{{diseaseid}}" "00100447" "02894" "00100448" "02894" "00100449" "02894" "00100450" "02894" "00100451" "02894" "00100452" "02894" "00100453" "02894" "00100454" "02894" "00100455" "00198" "00324742" "05228" "00393393" "02894" "00449742" "00139" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 02894, 05228 ## Count = 12 "{{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}}" "0000078647" "02894" "00100447" "01469" "Isolated (sporadic)" "" "cerebellar dysplasia;Cerebellar vermis hypoplasia;Agenesis of corpus callosum;\r\nAbnormality of the basal ganglia;\r\nPolymicrogyria;\r\nSchizencephaly;\r\nAbnormality of the cranial nerves;neurodevelopmental delay;Spastic tetraparesis;intellectual disability,severe;ptosis;strabismus;Complex focal seizures" "" "" "" "" "" "" "" "" "" "" "" "0000078648" "02894" "00100448" "01469" "Isolated (sporadic)" "" "Dysgenesis of the cerebellar vermis;Hypoplasia of the pons; Partial agenesis of the corpus callosum;Abnormality of the basal ganglia, polymicrogyria;neurodevelopmental delay;Congenital microcephaly;\r\nFocal seizures;Facial dysmorphisms" "" "" "" "" "" "" "" "" "" "" "" "0000078649" "02894" "00100449" "01469" "Isolated (sporadic)" "" "Cerebellar dysplasia;Dysgenesis of the cerebellar vermis;Hypoplasia of the pons;Dysgenesis of corpus callosum;Anomaly of the basal ganglia;\r\nPerisylvian polymicrogyria;\r\nCongenital microcephaly" "" "" "" "" "" "" "" "" "" "" "" "0000078650" "02894" "00100450" "01469" "Isolated (sporadic)" "" "Abnormality of the pons;\r\nDysplastic corpus callosum;\r\nAbnormality of the basal ganglia;\r\nPolymicrogyria;Schizencephaly;neurodevelopmental delay;spastic tetraparesis;intellectual disability,severe;frequent vomiting" "" "" "" "" "" "" "" "" "" "" "" "0000078651" "02894" "00100451" "01469" "Isolated (sporadic)" "" "Cerebellar vermis hypoplasia;Hypoplasia of the pons;Agenesis of corpus callosum;\r\nAbnormality of the basal ganglia;\r\nPerisylvian polymicrogyria;Hypoplasia of the optic nerve;Neurodevelopmental delay;Generalized hypotonia;Intellectual disability,severe;Congenital microcephaly;Congenital bilateral ptosis;Strabismus;\r\nOptic atrophy;Blindness;Epilepsy;Facial dysmorphisms" "" "" "" "" "" "" "" "" "" "" "" "0000078655" "00198" "00100455" "01469" "Isolated (sporadic)" "" "Cerebellar dysplasia;Cerebellar vermis hypoplasia;\r\nPartial agenesis of the corpus callosum;Thin corpus callosum; Abnormality of the basal ganglia;Polymicrogyria;Neurodevelopmental delay;Intellectual disability,severe;Congenital microcephaly;Nistagmus;Central visual loss;Focal seizures;Facial dysmorphisms" "" "" "" "" "" "" "" "" "" "" "" "0000078699" "02894" "00100452" "01469" "Isolated (sporadic)" "" "Cerebellar vermis hypoplasia;Hypoplasia of the pons;Agenesis of corpus callosum;Abnormality of the basal ganglia;Simplified gyral pattern; Neurodevelopmental delay;Hypotonia;Congenital microcephaly;Optic nerve hypoplasia;Seizures;Facial dysmorphisms" "" "" "" "" "" "" "" "" "" "" "" "0000078708" "02894" "00100453" "01469" "Isolated (sporadic)" "" "Cerebellar dysplasia;Hypoplasia of the pons;Thin corpus callosum;Abnormality of the basal ganglia;Neurodevelopmental delay;Spastic hemiparesis;Intellectual disability;Congenital microcephaly;Bilateral" "" "" "" "" "" "" "" "" "" "" "" "0000078709" "02894" "00100454" "01469" "Isolated (sporadic)" "" "Cerebellar dysplasia;Hypoplasia of the pons;Abnormality of the basal ganglia;Neurodevelopmental delay;Spastic tetraparesis;Intellectual disability, severe;Congenital microcephaly;Optic nerve hypoplasia;Optic nerve atrophy;West syndrome;Thoracolumbar scoliosis" "" "" "" "" "" "" "" "" "" "" "" "0000243240" "05228" "00324742" "01164" "Unknown" "" "(+) Abnormality of prenatal development or birth,(+) Abnormal corpus callosum morphology seen in ultrasound prenatally" "" "" "" "" "" "" "" "" "" "0y" "" "0000286634" "02894" "00393393" "01164" "Isolated (sporadic)" "" "prenatal ultrasound abnormalities: Abnormality of the septum pellucidum, Dilation of lateral ventricles, Cerebellar hypoplasia, Abnormal cerebral morphology" "" "" "" "" "" "" "" "" "" "0y" "" "0000338903" "00139" "00449742" "03544" "Isolated (sporadic)" "" "HP:0005684, HP:0010864, HP:0001274, HP:0000577, HP:0000646, HP:0000486, HP:0004322, HP:0000252, HP:0000238" "" "" "" "" "" "" "" "" "CDCBM7" "intellectual disability" "" ## Screenings ## Do not remove or alter this header ## ## Count = 12 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000100853" "00100447" "1" "01469" "01469" "2017-02-27 11:15:49" "" "" "SEQ" "DNA" "" "" "0000100854" "00100448" "1" "01469" "01469" "2017-02-27 11:30:13" "" "" "SEQ" "DNA" "" "" "0000100855" "00100449" "1" "01469" "01469" "2017-02-27 11:54:09" "" "" "SEQ" "DNA" "" "" "0000100856" "00100450" "1" "01469" "01469" "2017-02-27 12:37:51" "" "" "SEQ" "DNA" "" "" "0000100857" "00100451" "1" "01469" "01469" "2017-02-27 12:56:00" "" "" "SEQ" "DNA" "" "" "0000100859" "00100453" "1" "01469" "01469" "2017-02-27 16:35:44" "" "" "SEQ" "DNA" "" "" "0000100860" "00100452" "1" "01469" "01469" "2017-02-27 16:51:17" "" "" "SEQ" "DNA" "" "" "0000100861" "00100454" "1" "01469" "01469" "2017-02-27 17:06:15" "" "" "SEQ" "DNA" "" "" "0000100862" "00100455" "1" "01469" "01469" "2017-02-27 17:17:18" "00006" "2017-03-02 12:56:29" "SEQ" "DNA" "" "" "0000325949" "00324742" "1" "01164" "01164" "2020-12-23 16:14:49" "" "" "SEQ-NG-I" "DNA" "" "" "0000394641" "00393393" "1" "01164" "01164" "2021-11-29 13:47:51" "" "" "SEQ-NG-I" "DNA" "" "" "0000451335" "00449742" "1" "03544" "03544" "2024-05-09 11:01:58" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 11 "{{screeningid}}" "{{geneid}}" "0000100853" "TUBB2B" "0000100854" "TUBB2B" "0000100855" "TUBB2B" "0000100856" "TUBB2B" "0000100857" "TUBB2B" "0000100859" "TUBB2B" "0000100860" "TUBB2B" "0000100861" "TUBB2B" "0000100862" "TUBB2B" "0000325949" "TUBB2B" "0000394641" "TUBB2B" ## 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 = 56 "{{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}}" "0000163245" "0" "70" "6" "3225904" "3225904" "subst" "0" "01469" "TUBB2B_000002" "g.3225904C>G" "" "" "" "" "" "De novo" "yes" "" "0" "" "" "g.3225670C>G" "" "likely pathogenic" "" "0000163246" "0" "90" "6" "3225694" "3225694" "subst" "0" "01469" "TUBB2B_000003" "g.3225694A>G" "" "" "" "" "" "De novo" "yes" "" "0" "" "" "g.3225460A>G" "" "pathogenic" "" "0000163247" "0" "70" "6" "3225343" "3225343" "subst" "0" "01469" "TUBB2B_000004" "g.3225343T>C" "" "" "" "" "" "De novo" "yes" "" "0" "" "" "g.3225109T>C" "" "likely pathogenic" "" "0000163248" "0" "70" "6" "3225263" "3225263" "subst" "0" "01469" "TUBB2B_000005" "g.3225263A>G" "" "" "" "" "" "De novo" "yes" "" "0" "" "" "g.3225029A>G" "" "likely pathogenic" "" "0000163249" "0" "70" "6" "3225185" "3225185" "subst" "0" "01469" "TUBB2B_000006" "g.3225185G>A" "" "" "" "" "" "Unknown" "?" "" "0" "" "" "g.3224951G>A" "" "likely pathogenic" "" "0000163251" "0" "90" "6" "3225062" "3225062" "subst" "0" "01469" "TUBB2B_000008" "g.3225062C>T" "" "" "" "" "" "Unknown" "?" "" "0" "" "" "g.3224828C>T" "" "pathogenic" "" "0000163252" "0" "90" "6" "3225640" "3225640" "subst" "0" "01469" "TUBB2B_000001" "g.3225640A>G" "" "" "" "" "" "De novo" "yes" "" "0" "" "" "g.3225406A>G" "" "pathogenic" "" "0000163253" "0" "70" "6" "3225239" "3225243" "delins" "0" "01469" "TUBB2B_000009" "g.3225239_3225243delinsGAAGATGT" "" "" "" "" "" "De novo" "yes" "" "0" "" "" "g.3225005_3225009delinsGAAGATGT" "" "likely pathogenic" "" "0000163254" "0" "70" "6" "3227774" "3227774" "subst" "0" "01469" "TUBB2B_000007" "g.3227774G>T" "" "" "" "" "" "De novo" "yes" "" "0" "" "" "g.3227540G>T" "" "likely pathogenic" "" "0000254321" "0" "30" "6" "3225969" "3225969" "subst" "7.39396E-5" "01943" "TUBB2B_000025" "g.3225969A>G" "" "" "" "TUBB2B(NM_178012.4):c.354T>C (p.D118=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3225735A>G" "" "likely benign" "" "0000256026" "0" "50" "6" "3225694" "3225694" "subst" "0" "01943" "TUBB2B_000003" "g.3225694A>G" "" "" "" "TUBB2B(NM_178012.4):c.629T>C (p.I210T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3225460A>G" "" "VUS" "" "0000319049" "0" "90" "6" "3225136" "3225136" "subst" "0" "01943" "TUBB2B_000011" "g.3225136T>C" "" "" "" "TUBB2B(NM_178012.4):c.1187A>G (p.H396R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3224902T>C" "" "pathogenic" "" "0000319050" "0" "30" "6" "3225021" "3225021" "subst" "0.000629662" "01943" "TUBB2B_000010" "g.3225021C>T" "" "" "" "TUBB2B(NM_178012.4):c.1302G>A (p.G434=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3224787C>T" "" "likely benign" "" "0000319051" "0" "30" "6" "3225993" "3225993" "subst" "0.00747771" "01943" "TUBB2B_000026" "g.3225993G>A" "" "" "" "TUBB2B(NM_178012.4):c.330C>T (p.A110=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3225759G>A" "" "likely benign" "" "0000319052" "0" "30" "6" "3225876" "3225876" "subst" "6.91489E-5" "01943" "TUBB2B_000024" "g.3225876G>T" "" "" "" "TUBB2B(NM_178012.4):c.447C>A (p.T149=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3225642G>T" "" "likely benign" "" "0000319053" "0" "10" "6" "3225827" "3225827" "subst" "0" "01943" "TUBB2B_000023" "g.3225827T>A" "" "" "" "TUBB2B(NM_178012.4):c.496A>T (p.T166S), TUBB2B(NM_178012.5):c.496A>T (p.(Thr166Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3225593T>A" "" "benign" "" "0000319054" "0" "50" "6" "3225788" "3225788" "subst" "0" "01943" "TUBB2B_000022" "g.3225788C>T" "" "" "" "TUBB2B(NM_178012.4):c.535G>A (p.V179M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3225554C>T" "" "VUS" "" "0000319055" "0" "10" "6" "3225770" "3225770" "subst" "0" "01943" "TUBB2B_000021" "g.3225770C>T" "" "" "" "TUBB2B(NM_178012.4):c.553G>A (p.A185T, p.(Ala185Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3225536C>T" "" "benign" "" "0000319056" "0" "30" "6" "3225759" "3225759" "subst" "0" "01943" "TUBB2B_000020" "g.3225759C>A" "" "" "" "TUBB2B(NM_178012.4):c.564G>T (p.S188=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3225525C>A" "" "likely benign" "" "0000319057" "0" "30" "6" "3225721" "3225721" "subst" "7.25755E-5" "01943" "TUBB2B_000019" "g.3225721C>G" "" "" "" "TUBB2B(NM_178012.4):c.602G>C (p.C201S), TUBB2B(NM_178012.5):c.602G>C (p.C201S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3225487C>G" "" "likely benign" "" "0000319058" "0" "30" "6" "3225714" "3225714" "subst" "0.000817763" "01943" "TUBB2B_000018" "g.3225714G>A" "" "" "" "TUBB2B(NM_178012.4):c.609C>T (p.D203=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3225480G>A" "" "likely benign" "" "0000319059" "0" "30" "6" "3225702" "3225702" "subst" "0" "01943" "TUBB2B_000017" "g.3225702C>G" "" "" "" "TUBB2B(NM_178012.4):c.621G>C (p.L207=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3225468C>G" "" "likely benign" "" "0000319060" "0" "10" "6" "3225620" "3225620" "subst" "0" "01943" "TUBB2B_000016" "g.3225620C>T" "" "" "" "TUBB2B(NM_178012.4):c.703G>A (p.G235R, p.(Gly235Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3225386C>T" "" "benign" "" "0000319061" "0" "30" "6" "3225605" "3225605" "subst" "0.0119023" "01943" "TUBB2B_000015" "g.3225605G>A" "" "" "" "TUBB2B(NM_178012.4):c.718C>T (p.L240=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3225371G>A" "" "likely benign" "" "0000319062" "0" "30" "6" "3225581" "3225581" "subst" "0" "01943" "TUBB2B_000014" "g.3225581C>T" "" "" "" "TUBB2B(NM_178012.4):c.742G>A (p.A248T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3225347C>T" "" "likely benign" "" "0000319063" "0" "30" "6" "3225549" "3225549" "subst" "0" "01943" "TUBB2B_000013" "g.3225549C>T" "" "" "" "TUBB2B(NM_178012.4):c.774G>A (p.V258=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3225315C>T" "" "likely benign" "" "0000319064" "0" "50" "6" "3225428" "3225428" "subst" "0" "01943" "TUBB2B_000012" "g.3225428T>C" "" "" "" "TUBB2B(NM_178012.4):c.895A>G (p.M299V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3225194T>C" "" "VUS" "" "0000330800" "0" "50" "6" "3225620" "3225620" "subst" "0" "01804" "TUBB2B_000016" "g.3225620C>T" "" "" "" "TUBB2B(NM_178012.4):c.703G>A (p.G235R, p.(Gly235Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3225386C>T" "" "VUS" "" "0000330802" "0" "50" "6" "3225770" "3225770" "subst" "0" "01804" "TUBB2B_000021" "g.3225770C>T" "" "" "" "TUBB2B(NM_178012.4):c.553G>A (p.A185T, p.(Ala185Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3225536C>T" "" "VUS" "" "0000528482" "0" "50" "6" "3225152" "3225152" "subst" "0" "02327" "TUBB2B_000027" "g.3225152G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3224918G>A" "" "VUS" "" "0000528483" "0" "50" "6" "3225245" "3225245" "subst" "0" "01943" "TUBB2B_000028" "g.3225245C>T" "" "" "" "TUBB2B(NM_178012.4):c.1078G>A (p.G360S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3225011C>T" "" "VUS" "" "0000528484" "0" "50" "6" "3225322" "3225322" "subst" "0" "01804" "TUBB2B_000029" "g.3225322T>G" "" "" "" "TUBB2B(NM_178012.4):c.1001A>C (p.(Gln334Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3225088T>G" "" "VUS" "" "0000528485" "0" "70" "6" "3225489" "3225489" "subst" "0" "02326" "TUBB2B_000030" "g.3225489G>C" "" "" "" "TUBB2B(NM_178012.5):c.834C>G (p.S278R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3225255G>C" "" "likely pathogenic" "" "0000528487" "0" "30" "6" "3225580" "3225580" "subst" "0" "01804" "TUBB2B_000031" "g.3225580G>A" "" "" "" "TUBB2B(NM_178012.4):c.743C>T (p.A248V, p.(Ala248Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3225346G>A" "" "likely benign" "" "0000528489" "0" "30" "6" "3227717" "3227717" "subst" "2.9148E-5" "02327" "TUBB2B_000032" "g.3227717C>T" "" "" "" "TUBB2B(NM_178012.4):c.57+4G>A, TUBB2B(NM_178012.5):c.57+4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3227483C>T" "" "likely benign" "" "0000610294" "0" "70" "6" "3225134" "3225134" "subst" "0" "02327" "TUBB2B_000033" "g.3225134A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3224900A>G" "" "likely pathogenic" "" "0000610295" "0" "30" "6" "3225468" "3225468" "subst" "0" "01943" "TUBB2B_000034" "g.3225468C>T" "" "" "" "TUBB2B(NM_178012.4):c.855G>A (p.T285=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3225234C>T" "" "likely benign" "" "0000610296" "0" "50" "6" "3225475" "3225475" "subst" "0" "01943" "TUBB2B_000035" "g.3225475G>A" "" "" "" "TUBB2B(NM_178012.4):c.848C>T (p.A283V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3225241G>A" "" "VUS" "" "0000610297" "0" "70" "6" "3225505" "3225505" "subst" "0" "02327" "TUBB2B_000036" "g.3225505A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3225271A>C" "" "likely pathogenic" "" "0000610298" "0" "50" "6" "3225595" "3225595" "subst" "0" "02327" "TUBB2B_000037" "g.3225595G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3225361G>C" "" "VUS" "" "0000610299" "0" "90" "6" "3225793" "3225793" "subst" "0" "01943" "TUBB2B_000038" "g.3225793T>A" "" "" "" "TUBB2B(NM_178012.4):c.530A>T (p.D177V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3225559T>A" "" "pathogenic" "" "0000655569" "0" "30" "6" "3227717" "3227717" "subst" "2.9148E-5" "01943" "TUBB2B_000032" "g.3227717C>T" "" "" "" "TUBB2B(NM_178012.4):c.57+4G>A, TUBB2B(NM_178012.5):c.57+4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3227483C>T" "" "likely benign" "" "0000709046" "0" "70" "6" "3225184" "3225184" "subst" "0" "01164" "TUBB2B_000039" "g.3225184C>T" "" "" "" "" "ACMG: Class 4 (PS2_MOD, PM2, PM5, PP2, PP3)" "De novo" "?" "" "" "" "" "" "" "likely pathogenic (dominant)" "ACMG" "0000720859" "0" "70" "6" "3225448" "3225448" "subst" "0" "02329" "TUBB2B_000040" "g.3225448T>C" "" "" "" "TUBB2B(NM_178012.5):c.875A>G (p.Q292R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000802530" "0" "70" "6" "3225135" "3225135" "subst" "0" "01943" "TUBB2B_000041" "g.3225135G>C" "" "" "" "TUBB2B(NM_178012.4):c.1188C>G (p.H396Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000802531" "0" "50" "6" "3225154" "3225154" "subst" "0" "01943" "TUBB2B_000042" "g.3225154C>A" "" "" "" "TUBB2B(NM_178012.4):c.1169G>T (p.R390L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802532" "0" "30" "6" "3225721" "3225721" "subst" "7.25755E-5" "02325" "TUBB2B_000019" "g.3225721C>G" "" "" "" "TUBB2B(NM_178012.4):c.602G>C (p.C201S), TUBB2B(NM_178012.5):c.602G>C (p.C201S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000825593" "0" "70" "6" "3226031" "3226031" "subst" "0" "01164" "TUBB2B_000043" "g.3226031C>T" "" "PMID: 23361065; PMID: 25059107; PMID: 24860126" "" "" "ACMG: PS2, PS4_SUP, PM2_SUP, PP2, PP3" "Germline/De novo (untested)" "?" "rs797046075" "" "" "" "" "VCV000212497.4" "likely pathogenic (dominant)" "ACMG" "0000887193" "0" "70" "6" "3225601" "3225601" "subst" "0" "02327" "TUBB2B_000044" "g.3225601C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000887194" "0" "50" "6" "3226412" "3226412" "subst" "0" "02325" "TUBB2B_000045" "g.3226412T>G" "" "" "" "TUBB2B(NM_178012.5):c.258A>C (p.R86S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000912476" "0" "30" "6" "3227717" "3227717" "subst" "2.9148E-5" "02325" "TUBB2B_000032" "g.3227717C>T" "" "" "" "TUBB2B(NM_178012.4):c.57+4G>A, TUBB2B(NM_178012.5):c.57+4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000985189" "0" "70" "6" "3227774" "3227774" "subst" "0" "03544" "TUBB2B_000046" "g.3227774G>A" "" "" "" "" "" "De novo" "-" "" "" "" "" "g.3227540G>A" "" "likely pathogenic" "ACMG" "0001025220" "0" "50" "6" "3225580" "3225580" "subst" "0" "01943" "TUBB2B_000031" "g.3225580G>A" "" "" "" "TUBB2B(NM_178012.4):c.743C>T (p.A248V, p.(Ala248Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025221" "0" "50" "6" "3225599" "3225599" "subst" "0" "01943" "TUBB2B_000047" "g.3225599A>G" "" "" "" "TUBB2B(NM_178012.4):c.724T>C (p.F242L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035700" "0" "50" "6" "3222399" "3222399" "subst" "0" "01804" "TUBB2B_000048" "g.3222399C>A" "" "" "" "TUBB2B(NM_178012.5):c.*2586G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035701" "0" "50" "6" "3225827" "3225827" "subst" "0" "01804" "TUBB2B_000023" "g.3225827T>A" "" "" "" "TUBB2B(NM_178012.4):c.496A>T (p.T166S), TUBB2B(NM_178012.5):c.496A>T (p.(Thr166Ser))" "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 TUBB2B ## Count = 56 "{{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}}" "0000163245" "00022131" "70" "419" "0" "419" "0" "c.419G>C" "r.(?)" "p.(Gly140Ala)" "4" "0000163246" "00022131" "90" "629" "0" "629" "0" "c.629T>C" "r.(?)" "p.(Ile210Thr)" "4" "0000163247" "00022131" "70" "980" "0" "980" "0" "c.980A>G" "r.(?)" "p.(Asp327Gly)" "4" "0000163248" "00022131" "70" "1060" "0" "1060" "0" "c.1060T>C" "r.(?)" "p.(Cys354Arg)" "4" "0000163249" "00022131" "70" "1138" "0" "1138" "0" "c.1138C>T" "r.(?)" "p.(Arg380Cys)" "4" "0000163251" "00022131" "90" "1261" "0" "1261" "0" "c.1261G>A" "r.(?)" "p.(Glu421Lys)" "4" "0000163252" "00022131" "90" "683" "0" "683" "0" "c.683T>C" "r.(?)" "p.(Leu228Pro)" "4" "0000163253" "00022131" "70" "1080" "0" "1084" "0" "c.1080_1084delinsACATCTTC" "r.(?)" "p.(Leu361_Lys362delinsHisLeuGln)" "4" "0000163254" "00022131" "70" "4" "0" "4" "0" "c.4C>A" "r.(?)" "p.(Arg2Ser)" "2" "0000254321" "00022131" "30" "354" "0" "354" "0" "c.354T>C" "r.(?)" "p.(Asp118=)" "" "0000256026" "00022131" "50" "629" "0" "629" "0" "c.629T>C" "r.(?)" "p.(Ile210Thr)" "" "0000319049" "00022131" "90" "1187" "0" "1187" "0" "c.1187A>G" "r.(?)" "p.(His396Arg)" "" "0000319050" "00022131" "30" "1302" "0" "1302" "0" "c.1302G>A" "r.(?)" "p.(Gly434=)" "" "0000319051" "00022131" "30" "330" "0" "330" "0" "c.330C>T" "r.(?)" "p.(Ala110=)" "" "0000319052" "00022131" "30" "447" "0" "447" "0" "c.447C>A" "r.(?)" "p.(Thr149=)" "" "0000319053" "00022131" "10" "496" "0" "496" "0" "c.496A>T" "r.(?)" "p.(Thr166Ser)" "" "0000319054" "00022131" "50" "535" "0" "535" "0" "c.535G>A" "r.(?)" "p.(Val179Met)" "" "0000319055" "00022131" "10" "553" "0" "553" "0" "c.553G>A" "r.(?)" "p.(Ala185Thr)" "" "0000319056" "00022131" "30" "564" "0" "564" "0" "c.564G>T" "r.(?)" "p.(Ser188=)" "" "0000319057" "00022131" "30" "602" "0" "602" "0" "c.602G>C" "r.(?)" "p.(Cys201Ser)" "" "0000319058" "00022131" "30" "609" "0" "609" "0" "c.609C>T" "r.(?)" "p.(Asp203=)" "" "0000319059" "00022131" "30" "621" "0" "621" "0" "c.621G>C" "r.(?)" "p.(Leu207=)" "" "0000319060" "00022131" "10" "703" "0" "703" "0" "c.703G>A" "r.(?)" "p.(Gly235Arg)" "" "0000319061" "00022131" "30" "718" "0" "718" "0" "c.718C>T" "r.(?)" "p.(Leu240=)" "" "0000319062" "00022131" "30" "742" "0" "742" "0" "c.742G>A" "r.(?)" "p.(Ala248Thr)" "" "0000319063" "00022131" "30" "774" "0" "774" "0" "c.774G>A" "r.(?)" "p.(Val258=)" "" "0000319064" "00022131" "50" "895" "0" "895" "0" "c.895A>G" "r.(?)" "p.(Met299Val)" "" "0000330800" "00022131" "50" "703" "0" "703" "0" "c.703G>A" "r.(?)" "p.(Gly235Arg)" "" "0000330802" "00022131" "50" "553" "0" "553" "0" "c.553G>A" "r.(?)" "p.(Ala185Thr)" "" "0000528482" "00022131" "50" "1171" "0" "1171" "0" "c.1171C>T" "r.(?)" "p.(Arg391Cys)" "" "0000528483" "00022131" "50" "1078" "0" "1078" "0" "c.1078G>A" "r.(?)" "p.(Gly360Ser)" "" "0000528484" "00022131" "50" "1001" "0" "1001" "0" "c.1001A>C" "r.(?)" "p.(Gln334Pro)" "" "0000528485" "00022131" "70" "834" "0" "834" "0" "c.834C>G" "r.(?)" "p.(Ser278Arg)" "" "0000528487" "00022131" "30" "743" "0" "743" "0" "c.743C>T" "r.(?)" "p.(Ala248Val)" "" "0000528489" "00022131" "30" "57" "4" "57" "4" "c.57+4G>A" "r.spl?" "p.?" "" "0000610294" "00022131" "70" "1189" "0" "1189" "0" "c.1189T>C" "r.(?)" "p.(Trp397Arg)" "" "0000610295" "00022131" "30" "855" "0" "855" "0" "c.855G>A" "r.(?)" "p.(Thr285=)" "" "0000610296" "00022131" "50" "848" "0" "848" "0" "c.848C>T" "r.(?)" "p.(Ala283Val)" "" "0000610297" "00022131" "70" "818" "0" "818" "0" "c.818T>G" "r.(?)" "p.(Leu273Arg)" "" "0000610298" "00022131" "50" "728" "0" "728" "0" "c.728C>G" "r.(?)" "p.(Pro243Arg)" "" "0000610299" "00022131" "90" "530" "0" "530" "0" "c.530A>T" "r.(?)" "p.(Asp177Val)" "" "0000655569" "00022131" "30" "57" "4" "57" "4" "c.57+4G>A" "r.spl?" "p.?" "" "0000709046" "00022131" "70" "1139" "0" "1139" "0" "c.1139G>A" "r.(?)" "p.(Arg380His)" "" "0000720859" "00022131" "70" "875" "0" "875" "0" "c.875A>G" "r.(?)" "p.(Gln292Arg)" "" "0000802530" "00022131" "70" "1188" "0" "1188" "0" "c.1188C>G" "r.(?)" "p.(His396Gln)" "" "0000802531" "00022131" "50" "1169" "0" "1169" "0" "c.1169G>T" "r.(?)" "p.(Arg390Leu)" "" "0000802532" "00022131" "30" "602" "0" "602" "0" "c.602G>C" "r.(?)" "p.(Cys201Ser)" "" "0000825593" "00022131" "70" "292" "0" "292" "0" "c.292G>A" "r.(?)" "p.(Gly98Arg)" "" "0000887193" "00022131" "70" "722" "0" "722" "0" "c.722G>A" "r.(?)" "p.(Arg241His)" "" "0000887194" "00022131" "50" "258" "0" "258" "0" "c.258A>C" "r.(?)" "p.(Arg86Ser)" "" "0000912476" "00022131" "30" "57" "4" "57" "4" "c.57+4G>A" "r.spl?" "p.?" "" "0000985189" "00022131" "70" "4" "0" "4" "0" "c.4C>T" "r.(?)" "p.(Arg2Cys)" "1" "0001025220" "00022131" "50" "743" "0" "743" "0" "c.743C>T" "r.(?)" "p.(Ala248Val)" "" "0001025221" "00022131" "50" "724" "0" "724" "0" "c.724T>C" "r.(?)" "p.(Phe242Leu)" "" "0001035700" "00022131" "50" "3924" "0" "3924" "0" "c.*2586G>T" "r.(=)" "p.(=)" "" "0001035701" "00022131" "50" "496" "0" "496" "0" "c.496A>T" "r.(?)" "p.(Thr166Ser)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 12 "{{screeningid}}" "{{variantid}}" "0000100853" "0000163245" "0000100854" "0000163246" "0000100855" "0000163247" "0000100856" "0000163248" "0000100857" "0000163249" "0000100859" "0000163251" "0000100860" "0000163252" "0000100861" "0000163253" "0000100862" "0000163254" "0000325949" "0000709046" "0000394641" "0000825593" "0000451335" "0000985189"