### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TUBB2A) # 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}}" "TUBB2A" "tubulin, beta 2A class IIa" "6" "p25.2" "unknown" "NG_042223.1" "UD_132438015079" "" "https://www.LOVD.nl/TUBB2A" "" "1" "12412" "7280" "615101" "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/TUBB2A_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2017-12-29 10:27:35" "00006" "2025-11-13 13:04:16" ## 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}}" "00022130" "TUBB2A" "tubulin, beta 2A" "001" "NM_001069.2" "" "NP_001060.1" "" "" "" "-86" "1535" "1338" "3157783" "3153900" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "04077" "CDCBM5" "dysplasia ,cortical, complex, with other brain malformations, type 5 (CDCBM-5)" "AD" "615763" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05355" "spastic ataxia" "ataxia, spastic" "" "" "" "" "" "00006" "2017-12-21 19:09:00" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "TUBB2A" "04077" ## Individuals ## Do not remove or alter this header ## ## Count = 6 "{{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}}" "00146422" "" "" "" "1" "" "02119" "Sferra A. et al, 2018" "" "M" "no" "Italy" "" "0" "" "" "" "" "00146562" "" "" "" "1" "" "01807" "" "" "?" "" "(Germany)" "" "0" "" "" "" "" "00206811" "" "" "" "1" "" "01807" "" "" "F" "" "" "" "0" "" "" "" "" "00294055" "" "" "" "24" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00469477" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" "" "00469478" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 6 "{{individualid}}" "{{diseaseid}}" "00146422" "05355" "00146562" "00198" "00206811" "00198" "00294055" "00198" "00469477" "00198" "00469478" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 04077, 05355 ## Count = 5 "{{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}}" "0000119162" "05355" "00146422" "02119" "Isolated (sporadic)" "23y" "progressive spastic ataxia and sensory motor peripheral neuropathy resembling a sacsinopathy" "04y" "" "" "" "" "" "" "" "" "progressive spastic ataxia" "" "0000119303" "00198" "00146562" "01807" "Unknown" "" "HP:0001263 (Global developmental delay)" "" "" "" "" "" "" "" "" "" "" "" "0000154600" "00198" "00206811" "01807" "Unknown" "" "Mild global developmental delay (HP:0011342); Attention deficit hyperactivity disorder (HP:0007018); Abnormal aggressive, impulsive or violent behavior (HP:0006919)" "" "" "" "" "" "" "" "" "" "" "" "0000354630" "00198" "00469477" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "abnormality of the nervous system" "" "0000354631" "00198" "00469478" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "abnormality of the nervous system" "" ## Screenings ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000147277" "00146422" "1" "02119" "02119" "2017-12-28 10:29:12" "" "" "SEQ-NG" "DNA" "blood" "WES" "0000147417" "00146562" "0" "01807" "01807" "2017-12-29 11:40:14" "" "" "SEQ" "DNA" "" "" "0000207845" "00206811" "1" "01807" "01807" "2018-11-14 14:33:18" "" "" "SEQ" "DNA" "" "" "0000295223" "00294055" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000471145" "00469477" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000471146" "00469478" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000147277" "TUBB2A" ## 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 = 23 "{{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}}" "0000239955" "0" "90" "6" "3154186" "3154186" "subst" "0" "02119" "TUBB2A_000001" "g.3154186C>T" "" "Sferra A. et al, 2018" "" "" "" "De novo" "?" "" "0" "" "" "g.3153952C>T" "" "pathogenic" "" "0000240214" "0" "70" "6" "3154692" "3154692" "subst" "0" "01807" "TUBB2A_000002" "g.3154692G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.3154458G>A" "" "likely pathogenic" "" "0000313586" "0" "70" "6" "3154344" "3154346" "del" "0" "02329" "TUBB2A_000005" "g.3154344_3154346del" "" "" "" "TUBB2A(NM_001069.3):c.1090_1092delTCG (p.S364del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3154110_3154112del" "" "likely pathogenic" "" "0000319046" "0" "10" "6" "3154112" "3154112" "subst" "0.00219289" "01943" "TUBB2A_000004" "g.3154112G>A" "" "" "" "TUBB2A(NM_001069.2):c.1323C>T (p.G441=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3153878G>A" "" "benign" "" "0000319047" "0" "30" "6" "3155144" "3155144" "subst" "0" "01943" "TUBB2A_000007" "g.3155144G>A" "" "" "" "TUBB2A(NM_001310315.1):c.36C>T (p.A12=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3154910G>A" "" "likely benign" "" "0000319048" "0" "10" "6" "3154931" "3154931" "subst" "0" "01943" "TUBB2A_000006" "g.3154931G>A" "" "" "" "TUBB2A(NM_001069.2):c.504C>T (p.S168=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3154697G>A" "" "benign" "" "0000342031" "0" "50" "6" "3154951" "3154951" "subst" "0" "02327" "TUBB2A_000003" "g.3154951G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3154717G>A" "" "VUS" "" "0000437551" "0" "70" "6" "3154207" "3154207" "subst" "0" "01807" "TUBB2A_000008" "g.3154207C>T" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.3153973C>T" "" "likely pathogenic" "" "0000528253" "0" "50" "6" "3156377" "3156377" "subst" "0" "02327" "BPHL_000001" "g.3156377C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3156143C>A" "" "VUS" "" "0000610260" "0" "50" "6" "3154414" "3154414" "subst" "0" "01804" "BPHL_000002" "g.3154414A>G" "" "" "" "TUBB2A(NM_001069.2):c.1021T>C (p.(Phe341Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3154180A>G" "" "VUS" "" "0000651912" "1" "10" "6" "3155988" "3155988" "subst" "0.017259" "03575" "TUBB2A_000009" "g.3155988G>A" "24/2792 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "24 heterozygous, no homozygous; {DB:CLININrs115862064}" "Germline" "" "rs115862064" "0" "" "" "g.3155754G>A" "" "benign" "" "0000655551" "0" "70" "6" "3155143" "3155143" "subst" "0" "01804" "BPHL_000003" "g.3155143C>T" "" "" "" "TUBB2A(NM_001069.2):c.292G>A (p.(Gly98Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3154909C>T" "" "likely pathogenic" "" "0000802475" "0" "30" "6" "3154352" "3154352" "subst" "0" "01943" "BPHL_000004" "g.3154352C>T" "" "" "" "TUBB2A(NM_001310315.1):c.828G>A (p.L276=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802476" "0" "30" "6" "3154476" "3154476" "subst" "0" "01943" "BPHL_000005" "g.3154476C>T" "" "" "" "TUBB2A(NM_001310315.1):c.704G>A (p.R235H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802477" "0" "90" "6" "3154694" "3154694" "subst" "0" "02327" "BPHL_000006" "g.3154694G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000870259" "0" "70" "6" "3154563" "3154563" "subst" "0" "03779" "TUBB2A_000010" "g.3154563T>G" "" "" "" "" "" "CLASSIFICATION record" "" "rs863224939" "0" "" "" "" "" "likely pathogenic" "" "0000887147" "0" "70" "6" "3154537" "3154537" "subst" "0" "02325" "BPHL_000007" "g.3154537T>C" "" "" "" "TUBB2A(NM_001069.3):c.898A>G (p.M300V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000887148" "0" "70" "6" "3154651" "3154651" "subst" "0" "02327" "BPHL_000008" "g.3154651G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000924466" "0" "70" "6" "3157693" "3157693" "subst" "0" "02327" "BPHL_000009" "g.3157693C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000977154" "0" "70" "6" "3155143" "3155143" "subst" "0" "02327" "BPHL_000003" "g.3155143C>T" "" "" "" "TUBB2A(NM_001069.2):c.292G>A (p.(Gly98Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000995646" "0" "50" "6" "3154144" "3154144" "subst" "0" "01804" "BPHL_000011" "g.3154144C>T" "" "" "" "TUBB2A(NM_001069.2):c.1291G>A (p.(Asp431Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001059267" "0" "90" "6" "3154692" "3154692" "subst" "0" "00006" "TUBB2A_000002" "g.3154692G>A" "" "{PMID:Retterer 2016:26633542}" "" "" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.3154458G>A" "" "pathogenic" "" "0001059268" "0" "70" "6" "3154902" "3154902" "subst" "0" "00006" "TUBB2A_000011" "g.3154902G>A" "" "{PMID:Retterer 2016:26633542}" "" "" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.3154668G>A" "" "likely pathogenic" "" ## 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 TUBB2A ## Count = 23 "{{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}}" "0000239955" "00022130" "90" "1249" "0" "1249" "0" "c.1249G>A" "r.1249g>a" "p.Asp417Asn" "4" "0000240214" "00022130" "70" "743" "0" "743" "0" "c.743C>T" "r.(?)" "p.(Ala248Val)" "" "0000313586" "00022130" "70" "1090" "0" "1092" "0" "c.1090_1092del" "r.(?)" "p.(Ser364del)" "" "0000319046" "00022130" "10" "1323" "0" "1323" "0" "c.1323C>T" "r.(?)" "p.(Gly441=)" "" "0000319047" "00022130" "30" "291" "0" "291" "0" "c.291C>T" "r.(?)" "p.(Ala97=)" "" "0000319048" "00022130" "10" "504" "0" "504" "0" "c.504C>T" "r.(?)" "p.(Ser168=)" "" "0000342031" "00022130" "50" "484" "0" "484" "0" "c.484C>T" "r.(?)" "p.(Arg162Cys)" "" "0000437551" "00022130" "70" "1228" "0" "1228" "0" "c.1228G>A" "r.(?)" "p.(Glu410Lys)" "" "0000528253" "00022130" "50" "67" "0" "67" "0" "c.67G>T" "r.(?)" "p.(Val23Phe)" "" "0000610260" "00022130" "50" "1021" "0" "1021" "0" "c.1021T>C" "r.(?)" "p.(Phe341Leu)" "" "0000651912" "00022130" "10" "167" "-19" "167" "-19" "c.167-19C>T" "r.(=)" "p.(=)" "" "0000655551" "00022130" "70" "292" "0" "292" "0" "c.292G>A" "r.(?)" "p.(Gly98Arg)" "" "0000802475" "00022130" "30" "1083" "0" "1083" "0" "c.1083G>A" "r.(?)" "p.(Leu361=)" "" "0000802476" "00022130" "30" "959" "0" "959" "0" "c.959G>A" "r.(?)" "p.(Arg320His)" "" "0000802477" "00022130" "90" "741" "0" "741" "0" "c.741C>G" "r.(?)" "p.(Asn247Lys)" "" "0000870259" "00022130" "70" "872" "0" "872" "0" "c.872A>C" "r.(?)" "p.(Gln291Pro)" "" "0000887147" "00022130" "70" "898" "0" "898" "0" "c.898A>G" "r.(?)" "p.(Met300Val)" "" "0000887148" "00022130" "70" "784" "0" "784" "0" "c.784C>T" "r.(?)" "p.(Arg262Cys)" "" "0000924466" "00022130" "70" "5" "0" "5" "0" "c.5G>T" "r.(?)" "p.(Arg2Leu)" "" "0000977154" "00022130" "70" "292" "0" "292" "0" "c.292G>A" "r.(?)" "p.(Gly98Arg)" "" "0000995646" "00022130" "50" "1291" "0" "1291" "0" "c.1291G>A" "r.(?)" "p.(Asp431Asn)" "" "0001059267" "00022130" "90" "743" "0" "743" "0" "c.743C>T" "r.(?)" "p.(Ala248Val)" "" "0001059268" "00022130" "70" "533" "0" "533" "0" "c.533C>T" "r.(?)" "p.(Thr178Met)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 6 "{{screeningid}}" "{{variantid}}" "0000147277" "0000239955" "0000147417" "0000240214" "0000207845" "0000437551" "0000295223" "0000651912" "0000471145" "0001059267" "0000471146" "0001059268"