C4305153[trait identifier] AND "Victorian Clinical Genetics Services, - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 1805565	NM_006009.4(TUBA1A):c.889G>A (p.Glu297Lys)	TUBA1A (E262K +1 more)	Single nucleotide variant (missense variant)	Lissencephaly due to TUBA1A mutation	GUncertain significance
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 625509	NM_006009.4(TUBA1A):c.449C>T (p.Thr150Ile)	TUBA1A (T150I +1 more)	Single nucleotide variant (missense variant)	Lissencephaly due to TUBA1A mutation +2 more	GConflicting classifications of pathogenicity
Select item 160161	NM_006009.4(TUBA1A):c.5G>A (p.Arg2His)	TUBA1A (R2H)	Single nucleotide variant (missense variant +1 more)	TUBA1A-related condition +6 more	GPathogenic/Likely pathogenic
Select item 1064595	NM_006009.4(TUBA1A):c.3+3del	TUBA1A	Deletion (5 prime UTR variant +1 more)	Lissencephaly due to TUBA1A mutation	GLikely pathogenic

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