"Institute of Medical Genetics and Applied Genomics, University Hospit - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160146	NM_006009.4(TUBA1A):c.1204C>T (p.Arg402Cys)	TUBA1A (R402C +1 more)	Single nucleotide variant (missense variant)	Tubulinopathy +3 more	GPathogenic/Likely pathogenic
Select item 287392	NM_006009.4(TUBA1A):c.791G>A (p.Arg264His)	TUBA1A (R264H +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1332989	NM_006009.4(TUBA1A):c.609G>A (p.Met203Ile)	TUBA1A (M168I +1 more)	Single nucleotide variant (missense variant)	Lissencephaly due to TUBA1A mutation	GLikely pathogenic
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 1341501	NM_006009.4(TUBA1A):c.137A>T (p.Asp46Val)	TUBA1A (D11V +1 more)	Single nucleotide variant (missense variant)	Lissencephaly due to TUBA1A mutation	GLikely pathogenic
Select item 625491	NM_006009.4(TUBA1A):c.26T>C (p.Val9Ala)	TUBA1A (V9A)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GConflicting classifications of pathogenicity

ClinVar