"Baylor Genetics"[submitter] AND "TUBA8"[gene] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1033914	NM_018943.3(TUBA8):c.5G>A (p.Arg2Gln)	TUBA8 (R2Q)	Single nucleotide variant (5 prime UTR variant +1 more)	Polymicrogyria with optic nerve hypoplasia +1 more	GUncertain significance
Select item 1033915	NM_018943.3(TUBA8):c.727C>T (p.Arg243Cys)	TUBA8 (R177C +1 more)	Single nucleotide variant (missense variant)	Polymicrogyria with optic nerve hypoplasia +1 more	GUncertain significance
Select item 160175	NM_018943.3(TUBA8):c.958C>T (p.Arg320Trp)	TUBA8 (R320W +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 425280	NM_018943.3(TUBA8):c.967G>A (p.Val323Met)	TUBA8 (V323M +1 more)	Single nucleotide variant (missense variant)	Macrothrombocytopenia, isolated, 2, autosomal dominant +3 more	GUncertain significance
Select item 625807	GRCh37/hg19 22q11.1-11.21(chr22:17289827-20311922)	ADA2, ARVCF +43 more	Copy number gain	Chromosome 22q11.2 microduplication syndrome	GPathogenic
Select item 625806	GRCh37/hg19 22q11.1-11.21(chr22:17072086-20130474)	ADA2, ARVCF +42 more	Copy number gain	not provided	GPathogenic
Select item 625583	GRCh37/hg19 22q11.21(chr22:18611223-21408430)	AIFM3, ARVCF +47 more	Copy number gain	Chromosome 22q11.2 microduplication syndrome	GPathogenic
Select item 625582	GRCh37/hg19 22q11.21(chr22:18609712-21408430)	AIFM3, ARVCF +47 more	Copy number gain	Chromosome 22q11.2 microduplication syndrome	GPathogenic