Related gene-specific medical variations for Gene (Select 7846) - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3237530	NM_006009.4(TUBA1A):c.509C>G (p.Ser170Cys)	TUBA1A (S135C +1 more)	Single nucleotide variant (missense variant)	Lissencephaly due to TUBA1A mutation	GLikely pathogenic
Select item 3067949	NM_006009.4(TUBA1A):c.203T>C (p.Val68Ala)	TUBA1A (V33A +1 more)	Single nucleotide variant (missense variant)	Lissencephaly due to TUBA1A mutation	GUncertain significance
Select item 2664153	NM_006009.4(TUBA1A):c.303T>A (p.Asn101Lys)	TUBA1A (N101K +1 more)	Single nucleotide variant (missense variant)	Congenital bilateral perisylvian syndrome	GPathogenic
Select item 2438431	NM_006009.4(TUBA1A):c.547G>A (p.Glu183Lys)	TUBA1A (E148K +1 more)	Single nucleotide variant (missense variant)	Lissencephaly due to TUBA1A mutation	GUncertain significance
Select item 1803085	NM_006009.4(TUBA1A):c.615C>A (p.Asp205Glu)	TUBA1A (D170E +1 more)	Single nucleotide variant (missense variant)	Tubulinopathy	GLikely pathogenic
Select item 1803083	NM_006009.4(TUBA1A):c.626T>C (p.Ile209Thr)	TUBA1A (I174T +1 more)	Single nucleotide variant (missense variant)	Tubulinopathy	GLikely pathogenic
Select item 1344803	NM_006009.4(TUBA1A):c.1222T>G (p.Tyr408Asp)	TUBA1A (Y373D +1 more)	Single nucleotide variant (missense variant)	Recurrent hand flapping	GUncertain significance
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 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 591001	NM_006009.4(TUBA1A):c.1247G>A (p.Gly416Asp)	TUBA1A (G416D +1 more)	Single nucleotide variant (missense variant)	Lissencephaly due to TUBA1A mutation	GUncertain significance