"PreventionGenetics, part of Exact Sciences"[submitter] AND "TUBA1A"[g - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 586915	NM_006009.4(TUBA1A):c.1230G>C (p.Gly410=)	TUBA1A	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 379050	NM_006009.4(TUBA1A):c.1230G>T (p.Gly410=)	TUBA1A	Single nucleotide variant (synonymous variant)	TUBA1A-related disorder +2 more	GLikely benign
Select item 2630903	NM_006009.4(TUBA1A):c.1204C>G (p.Arg402Gly)	TUBA1A (R367G +1 more)	Single nucleotide variant (missense variant)	TUBA1A-related disorder	GUncertain significance
Select item 2636987	NM_006009.4(TUBA1A):c.1013A>T (p.Lys338Met)	TUBA1A (K303M +1 more)	Single nucleotide variant (missense variant)	TUBA1A-related disorder	GLikely pathogenic
Select item 521647	NM_006009.4(TUBA1A):c.959G>A (p.Arg320His)	TUBA1A (R320H +1 more)	Single nucleotide variant (missense variant)	Lissencephaly due to TUBA1A mutation +3 more	GPathogenic/Likely pathogenic
Select item 2507148	NM_006009.4(TUBA1A):c.922C>T (p.Arg308Cys)	TUBA1A (R273C +1 more)	Single nucleotide variant (missense variant)	TUBA1A-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 1187068	NM_006009.4(TUBA1A):c.640C>T (p.Arg214Cys)	TUBA1A (R179C +1 more)	Single nucleotide variant (missense variant)	TUBA1A-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 137849	NM_006009.4(TUBA1A):c.510T>C (p.Ser170=)	TUBA1A	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 2903235	NM_006009.4(TUBA1A):c.453G>A (p.Ser151=)	TUBA1A	Single nucleotide variant (synonymous variant)	TUBA1A-related disorder +1 more	GLikely benign
Select item 160157	NM_006009.4(TUBA1A):c.453G>C (p.Ser151=)	TUBA1A	Single nucleotide variant (synonymous variant)	Lissencephaly due to TUBA1A mutation +3 more	GBenign
Select item 3054429	NM_006009.4(TUBA1A):c.408G>A (p.Leu136=)	TUBA1A	Single nucleotide variant (synonymous variant)	TUBA1A-related disorder	GLikely benign
Select item 3053901	NM_006009.4(TUBA1A):c.376-9_376-8del	TUBA1A	Deletion (intron variant)	TUBA1A-related disorder	GLikely benign
Select item 160154	NM_006009.4(TUBA1A):c.288A>G (p.Lys96=)	TUBA1A	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 3040389	NM_006009.4(TUBA1A):c.282A>G (p.Thr94=)	TUBA1A	Single nucleotide variant (synonymous variant)	TUBA1A-related disorder	GLikely benign
Select item 212492	NM_006009.4(TUBA1A):c.273A>G (p.Gln91=)	TUBA1A	Single nucleotide variant (synonymous variant)	TUBA1A-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 259900	NM_006009.4(TUBA1A):c.227-38C>G	TUBA1A	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 259901	NM_006009.4(TUBA1A):c.227-42T>C	TUBA1A	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 160152	NM_006009.4(TUBA1A):c.226+10C>T	TUBA1A	Single nucleotide variant (intron variant)	TUBA1A-related disorder +2 more	GBenign/Likely benign
Select item 2631575	NM_006009.4(TUBA1A):c.182A>C (p.His61Pro)	TUBA1A (H26P +1 more)	Single nucleotide variant (missense variant)	TUBA1A-related disorder	GLikely pathogenic
Select item 3056540	NM_006009.4(TUBA1A):c.171G>T (p.Gly57=)	TUBA1A	Single nucleotide variant (synonymous variant)	TUBA1A-related disorder	GLikely benign
Select item 3055443	NM_006009.4(TUBA1A):c.165G>A (p.Glu55=)	TUBA1A	Single nucleotide variant (synonymous variant)	TUBA1A-related disorder	GLikely benign
Select item 2635348	NM_006009.4(TUBA1A):c.34G>C (p.Ala12Pro)	TUBA1A (A12P)	Single nucleotide variant (missense variant +1 more)	TUBA1A-related disorder	GUncertain significance
Select item 160161	NM_006009.4(TUBA1A):c.5G>A (p.Arg2His)	TUBA1A (R2H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +6 more	GPathogenic/Likely pathogenic
Select item 160156	NM_006009.4(TUBA1A):c.4-7C>T	TUBA1A	Single nucleotide variant (intron variant)	Lissencephaly due to TUBA1A mutation +2 more	GConflicting classifications of pathogenicity

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Items: 24