"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "TUBA1A"[ge - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 623807	NM_006009.4(TUBA1A):c.1291G>A (p.Asp431Asn)	TUBA1A (D431N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 7074	NM_006009.4(TUBA1A):c.1256C>T (p.Ser419Leu)	TUBA1A (S419L +1 more)	Single nucleotide variant (missense variant)	Tubulinopathy +2 more	GPathogenic/Likely pathogenic
Select item 212489	NM_006009.4(TUBA1A):c.1248T>C (p.Gly416=)	TUBA1A	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 7071	NM_006009.4(TUBA1A):c.1205G>A (p.Arg402His)	TUBA1A (R402H +1 more)	Single nucleotide variant (missense variant)	Tubulinopathy +3 more	GPathogenic
Select item 212488	NM_006009.4(TUBA1A):c.1105G>A (p.Ala369Thr)	TUBA1A (A369T +1 more)	Single nucleotide variant (missense variant)	Tubulinopathy +2 more	GPathogenic/Likely pathogenic
Select item 381030	NM_006009.4(TUBA1A):c.1044C>T (p.Pro348=)	TUBA1A	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 160165	NM_006009.4(TUBA1A):c.966C>T (p.Asp322=)	TUBA1A	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 864866	NM_006009.4(TUBA1A):c.958C>T (p.Arg320Cys)	TUBA1A (R285C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 806884	NM_006009.4(TUBA1A):c.817G>A (p.Ala273Thr)	TUBA1A (A238T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 372542	NM_006009.4(TUBA1A):c.641G>A (p.Arg214His)	TUBA1A (R214H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GPathogenic/Likely pathogenic
Select item 1012609	NM_006009.4(TUBA1A):c.631G>A (p.Asp211Asn)	TUBA1A (D176N +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2498557	NM_006009.4(TUBA1A):c.528G>C (p.Gln176His)	TUBA1A (Q141H +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 160159	NM_006009.4(TUBA1A):c.521C>T (p.Ala174Val)	TUBA1A (A174V +1 more)	Single nucleotide variant (missense variant)	Tubulinopathy +5 more	GConflicting classifications of pathogenicity
Select item 2578681	NM_006009.4(TUBA1A):c.489del (p.Lys164fs)	TUBA1A (K129fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 160155	NM_006009.4(TUBA1A):c.396C>T (p.Leu132=)	TUBA1A	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 2578682	NM_006009.4(TUBA1A):c.284G>A (p.Gly95Asp)	TUBA1A (G60D +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1012610	NM_006009.4(TUBA1A):c.236G>A (p.Arg79His)	TUBA1A (R44H +1 more)	Single nucleotide variant (missense variant)	Lissencephaly due to TUBA1A mutation +1 more	GPathogenic/Likely pathogenic
Select item 160152	NM_006009.4(TUBA1A):c.226+10C>T	TUBA1A	Single nucleotide variant (intron variant)	TUBA1A-related condition +2 more	GBenign/Likely benign
Select item 1701199	NM_006009.4(TUBA1A):c.167_168delinsAT (p.Thr56Asn)	TUBA1A (T21N +1 more)	Indel (missense variant)	not provided	GLikely pathogenic
Select item 1335104	NM_006009.4(TUBA1A):c.38G>C (p.Gly13Ala)	TUBA1A (G13A)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic

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Items: 20