ClinVar Miner

List of variants in gene TUBA1A reported as likely pathogenic

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 138
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_006009.4(TUBA1A):c.1013A>T (p.Lys338Met)
NM_006009.4(TUBA1A):c.1025A>C (p.Gln342Pro) rs1555162307
NM_006009.4(TUBA1A):c.1049G>T (p.Gly350Val) rs1942166930
NM_006009.4(TUBA1A):c.1055A>T (p.Lys352Met) rs1555162303
NM_006009.4(TUBA1A):c.1057G>A (p.Val353Ile) rs1565627023
NM_006009.4(TUBA1A):c.1063A>G (p.Ile355Val)
NM_006009.4(TUBA1A):c.1076C>T (p.Pro359Leu) rs1085307724
NM_006009.4(TUBA1A):c.1082C>T (p.Thr361Ile) rs1555162301
NM_006009.4(TUBA1A):c.1084G>C (p.Val362Leu) rs1942166073
NM_006009.4(TUBA1A):c.1091C>G (p.Pro364Arg) rs1131691349
NM_006009.4(TUBA1A):c.1096G>A (p.Gly366Arg) rs1555162299
NM_006009.4(TUBA1A):c.1105G>A (p.Ala369Thr) rs797046071
NM_006009.4(TUBA1A):c.110C>T (p.Pro37Leu)
NM_006009.4(TUBA1A):c.1129A>G (p.Met377Val) rs587784481
NM_006009.4(TUBA1A):c.1144A>G (p.Thr382Ala) rs1555162294
NM_006009.4(TUBA1A):c.1148C>A (p.Ala383Asp) rs587784482
NM_006009.4(TUBA1A):c.1148C>T (p.Ala383Val) rs587784482
NM_006009.4(TUBA1A):c.1156G>A (p.Glu386Lys) rs1942164890
NM_006009.4(TUBA1A):c.1168C>G (p.Arg390Gly) rs1064793286
NM_006009.4(TUBA1A):c.1168C>T (p.Arg390Cys) rs1064793286
NM_006009.4(TUBA1A):c.1169G>C (p.Arg390Pro) rs1064796460
NM_006009.4(TUBA1A):c.1177C>T (p.His393Tyr) rs1555162288
NM_006009.4(TUBA1A):c.1193T>G (p.Met398Arg) rs1942164218
NM_006009.4(TUBA1A):c.1204C>A (p.Arg402Ser) rs587784483
NM_006009.4(TUBA1A):c.1204C>T (p.Arg402Cys) rs587784483
NM_006009.4(TUBA1A):c.1205G>A (p.Arg402His) rs137853044
NM_006009.4(TUBA1A):c.1225G>T (p.Val409Phe)
NM_006009.4(TUBA1A):c.1226T>C (p.Val409Ala) rs797045005
NM_006009.4(TUBA1A):c.1239G>A (p.Met413Ile) rs2121241333
NM_006009.4(TUBA1A):c.1246G>A (p.Gly416Ser) rs1057521986
NM_006009.4(TUBA1A):c.1256C>T (p.Ser419Leu) rs137853047
NM_006009.4(TUBA1A):c.1261G>A (p.Ala421Thr) rs1592259391
NM_006009.4(TUBA1A):c.1265G>A (p.Arg422His) rs137853050
NM_006009.4(TUBA1A):c.1268A>G (p.Glu423Gly)
NM_006009.4(TUBA1A):c.1274T>A (p.Met425Lys) rs587784484
NM_006009.4(TUBA1A):c.128G>T (p.Gly43Val)
NM_006009.4(TUBA1A):c.1304T>C (p.Val435Ala) rs1555162242
NM_006009.4(TUBA1A):c.1307G>A (p.Gly436Asp) rs1565626851
NM_006009.4(TUBA1A):c.1341del (p.Gly448fs) rs1565626826
NM_006009.4(TUBA1A):c.137A>T (p.Asp46Val) rs2121248103
NM_006009.4(TUBA1A):c.139G>C (p.Asp47His) rs1555162536
NM_006009.4(TUBA1A):c.13A>C (p.Ile5Leu) rs387906840
NM_006009.4(TUBA1A):c.152C>T (p.Thr51Ile) rs587784485
NM_006009.4(TUBA1A):c.162T>A (p.Ser54Arg) rs587784486
NM_006009.4(TUBA1A):c.167_168delinsAT (p.Thr56Asn) rs2121247899
NM_006009.4(TUBA1A):c.17C>G (p.Ser6Cys) rs1057520574
NM_006009.4(TUBA1A):c.180G>T (p.Lys60Asn) rs1565627707
NM_006009.4(TUBA1A):c.182A>C (p.His61Pro)
NM_006009.4(TUBA1A):c.188C>T (p.Pro63Leu) rs2121247772
NM_006009.4(TUBA1A):c.191G>A (p.Arg64Gln) rs1942184922
NM_006009.4(TUBA1A):c.196_206delinsACGTGTGTCGC (p.Val66_Asp69delinsThrCysValAla)
NM_006009.4(TUBA1A):c.217A>G (p.Thr73Ala) rs1592260393
NM_006009.4(TUBA1A):c.235C>T (p.Arg79Cys) rs1555162507
NM_006009.4(TUBA1A):c.236G>A (p.Arg79His) rs1942181364
NM_006009.4(TUBA1A):c.269A>G (p.Glu90Gly) rs797046072
NM_006009.4(TUBA1A):c.26T>C (p.Val9Ala) rs1565627795
NM_006009.4(TUBA1A):c.284G>A (p.Gly95Asp)
NM_006009.4(TUBA1A):c.3+3del rs2121256921
NM_006009.4(TUBA1A):c.302A>G (p.Asn101Ser) rs1565627526
NM_006009.4(TUBA1A):c.321C>G (p.His107Gln) rs1565627513
NM_006009.4(TUBA1A):c.322T>C (p.Tyr108His) rs2121246535
NM_006009.4(TUBA1A):c.344T>C (p.Ile115Thr) rs1085307716
NM_006009.4(TUBA1A):c.352G>A (p.Val118Met) rs863224938
NM_006009.4(TUBA1A):c.362G>A (p.Arg121Gln) rs2121246284
NM_006009.4(TUBA1A):c.367C>T (p.Arg123Cys) rs886039513
NM_006009.4(TUBA1A):c.368G>A (p.Arg123His) rs1555162456
NM_006009.4(TUBA1A):c.379G>A (p.Asp127Asn) rs1085308005
NM_006009.4(TUBA1A):c.38G>C (p.Gly13Ala) rs2121248621
NM_006009.4(TUBA1A):c.410T>A (p.Val137Asp) rs1565627364
NM_006009.4(TUBA1A):c.413T>C (p.Phe138Ser)
NM_006009.4(TUBA1A):c.424G>A (p.Gly142Ser) rs1555162407
NM_006009.4(TUBA1A):c.424G>T (p.Gly142Cys) rs1555162407
NM_006009.4(TUBA1A):c.427G>A (p.Gly143Arg) rs1131691318
NM_006009.4(TUBA1A):c.449C>T (p.Thr150Ile) rs1565627339
NM_006009.4(TUBA1A):c.455T>A (p.Leu152Gln) rs1057521063
NM_006009.4(TUBA1A):c.467G>A (p.Arg156His) rs1942174390
NM_006009.4(TUBA1A):c.47T>C (p.Ile16Thr) rs1942187200
NM_006009.4(TUBA1A):c.481T>G (p.Tyr161Asp) rs587784488
NM_006009.4(TUBA1A):c.485G>T (p.Gly162Val) rs2121244807
NM_006009.4(TUBA1A):c.518C>T (p.Pro173Leu) rs1565627304
NM_006009.4(TUBA1A):c.520G>C (p.Ala174Pro) rs1555162392
NM_006009.4(TUBA1A):c.521C>T (p.Ala174Val) rs587784489
NM_006009.4(TUBA1A):c.528G>C (p.Gln176His)
NM_006009.4(TUBA1A):c.52A>T (p.Asn18Tyr)
NM_006009.4(TUBA1A):c.539C>T (p.Ala180Val) rs2121244643
NM_006009.4(TUBA1A):c.53A>G (p.Asn18Ser) rs1064795213
NM_006009.4(TUBA1A):c.53A>T (p.Asn18Ile) rs1064795213
NM_006009.4(TUBA1A):c.542T>C (p.Val181Ala)
NM_006009.4(TUBA1A):c.596A>G (p.Asp199Gly) rs786205479
NM_006009.4(TUBA1A):c.598T>C (p.Cys200Arg) rs1942172759
NM_006009.4(TUBA1A):c.5G>A (p.Arg2His) rs587784491
NM_006009.4(TUBA1A):c.602C>T (p.Ala201Val) rs2121244360
NM_006009.4(TUBA1A):c.609G>A (p.Met203Ile) rs2121244334
NM_006009.4(TUBA1A):c.615C>A (p.Asp205Glu)
NM_006009.4(TUBA1A):c.626T>C (p.Ile209Thr)
NM_006009.4(TUBA1A):c.631G>A (p.Asp211Asn) rs1942172546
NM_006009.4(TUBA1A):c.635_640del (p.Ile212_Arg214delinsSer) rs2121244201
NM_006009.4(TUBA1A):c.641G>A (p.Arg214His) rs1057517843
NM_006009.4(TUBA1A):c.641G>T (p.Arg214Leu) rs1057517843
NM_006009.4(TUBA1A):c.652G>A (p.Asp218Asn) rs1057517858
NM_006009.4(TUBA1A):c.655A>G (p.Ile219Val) rs1565627220
NM_006009.4(TUBA1A):c.657T>G (p.Ile219Met) rs146680997
NM_006009.4(TUBA1A):c.698A>G (p.Gln233Arg) rs587784492
NM_006009.4(TUBA1A):c.703G>C (p.Val235Leu) rs1565627190
NM_006009.4(TUBA1A):c.712A>G (p.Ile238Val) rs1565627184
NM_006009.4(TUBA1A):c.715A>C (p.Thr239Pro) rs1064795738
NM_006009.4(TUBA1A):c.746A>G (p.Asn249Ser) rs1942171146
NM_006009.4(TUBA1A):c.74G>A (p.Cys25Tyr) rs1565627777
NM_006009.4(TUBA1A):c.758C>A (p.Thr253Lys) rs587784493
NM_006009.4(TUBA1A):c.781C>G (p.Pro261Ala)
NM_006009.4(TUBA1A):c.790C>G (p.Arg264Gly) rs137853043
NM_006009.4(TUBA1A):c.790C>T (p.Arg264Cys) rs137853043
NM_006009.4(TUBA1A):c.791G>A (p.Arg264His) rs886043627
NM_006009.4(TUBA1A):c.806T>C (p.Leu269Pro) rs2121243526
NM_006009.4(TUBA1A):c.808G>A (p.Ala270Thr) rs587784494
NM_006009.4(TUBA1A):c.808G>T (p.Ala270Ser) rs587784494
NM_006009.4(TUBA1A):c.815A>G (p.Tyr272Cys) rs1064795417
NM_006009.4(TUBA1A):c.818C>A (p.Ala273Asp) rs2121243396
NM_006009.4(TUBA1A):c.82C>T (p.His28Tyr) rs1555162549
NM_006009.4(TUBA1A):c.848A>G (p.His283Arg) rs2121243281
NM_006009.4(TUBA1A):c.856C>T (p.Leu286Phe) rs1565627116
NM_006009.4(TUBA1A):c.870G>T (p.Glu290Asp)
NM_006009.4(TUBA1A):c.875C>T (p.Thr292Ile)
NM_006009.4(TUBA1A):c.878A>G (p.Asn293Ser) rs1942169629
NM_006009.4(TUBA1A):c.879_899del (p.Ala294_Asn300del)
NM_006009.4(TUBA1A):c.887T>C (p.Phe296Ser) rs1131691597
NM_006009.4(TUBA1A):c.902A>G (p.Gln301Arg) rs1942169309
NM_006009.4(TUBA1A):c.916G>T (p.Asp306Tyr) rs1555162330
NM_006009.4(TUBA1A):c.919C>T (p.Pro307Ser) rs1555162327
NM_006009.4(TUBA1A):c.920C>T (p.Pro307Leu) rs1555162325
NM_006009.4(TUBA1A):c.922C>T (p.Arg308Cys)
NM_006009.4(TUBA1A):c.956A>G (p.Tyr319Cys) rs2121242769
NM_006009.4(TUBA1A):c.958C>T (p.Arg320Cys) rs1942168488
NM_006009.4(TUBA1A):c.959G>A (p.Arg320His) rs1555162323
NM_006009.4(TUBA1A):c.962G>A (p.Gly321Asp)
NM_006009.4(TUBA1A):c.967G>A (p.Val323Met) rs2121242709
NM_006009.4(TUBA1A):c.970G>C (p.Val324Leu) rs797046073
NM_006009.4(TUBA1A):c.995T>C (p.Ile332Thr) rs587784497

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.