List of variants in gene TUBA1A reported as pathogenic for congenital nervous system disorder

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Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 39

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HGVS	dbSNP	gnomAD frequency
NM_006009.4(TUBA1A):c.1105G>A (p.Ala369Thr)	rs797046071
NM_006009.4(TUBA1A):c.1168C>T (p.Arg390Cys)	rs1064793286
NM_006009.4(TUBA1A):c.1169G>A (p.Arg390His)	rs1064796460
NM_006009.4(TUBA1A):c.1169G>C (p.Arg390Pro)	rs1064796460
NM_006009.4(TUBA1A):c.1190T>C (p.Leu397Pro)	rs137853048
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.1205G>T (p.Arg402Leu)	rs137853044
NM_006009.4(TUBA1A):c.1216C>G (p.His406Asp)	rs1942163977
NM_006009.4(TUBA1A):c.1224C>A (p.Tyr408Ter)	rs753719501
NM_006009.4(TUBA1A):c.1226T>C (p.Val409Ala)	rs797045005
NM_006009.4(TUBA1A):c.1256C>T (p.Ser419Leu)	rs137853047
NM_006009.4(TUBA1A):c.1264C>T (p.Arg422Cys)	rs137853049
NM_006009.4(TUBA1A):c.1265G>A (p.Arg422His)	rs137853050
NM_006009.4(TUBA1A):c.1288_1302del (p.Lys430_Glu434del)	rs2121241118
NM_006009.4(TUBA1A):c.13A>C (p.Ile5Leu)	rs387906840
NM_006009.4(TUBA1A):c.167C>T (p.Thr56Met)	rs1565627727
NM_006009.4(TUBA1A):c.26T>C (p.Val9Ala)	rs1565627795
NM_006009.4(TUBA1A):c.303T>A (p.Asn101Lys)
NM_006009.4(TUBA1A):c.352G>A (p.Val118Met)	rs863224938
NM_006009.4(TUBA1A):c.431G>T (p.Gly144Val)	rs2121245032
NM_006009.4(TUBA1A):c.481T>G (p.Tyr161Asp)	rs587784488
NM_006009.4(TUBA1A):c.518C>T (p.Pro173Leu)	rs1565627304
NM_006009.4(TUBA1A):c.53A>G (p.Asn18Ser)	rs1064795213
NM_006009.4(TUBA1A):c.545T>C (p.Val182Ala)	rs1942173367
NM_006009.4(TUBA1A):c.562A>C (p.Ile188Leu)	rs137853045
NM_006009.4(TUBA1A):c.5G>A (p.Arg2His)	rs587784491
NM_006009.4(TUBA1A):c.637_640del (p.Cys213fs)
NM_006009.4(TUBA1A):c.641G>A (p.Arg214His)	rs1057517843
NM_006009.4(TUBA1A):c.652G>A (p.Asp218Asn)	rs1057517858
NM_006009.4(TUBA1A):c.701T>G (p.Ile234Ser)	rs1942171599
NM_006009.4(TUBA1A):c.787C>A (p.Pro263Thr)	rs137853046
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.878A>G (p.Asn293Ser)	rs1942169629
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.986A>G (p.Asn329Ser)	rs587784495

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