"Baylor Genetics"[submitter] AND "GORAB"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1032478	NM_152281.3(GORAB):c.785G>A (p.Arg262Gln)	GORAB (R262Q +1 more)	Single nucleotide variant (missense variant +1 more)	Geroderma osteodysplastica	GUncertain significance
Select item 625771	GRCh37/hg19 1q23.2-25.1(chr1:160369890-175796325)	ADCY10, ALDH9A1 +137 more	Copy number loss	not provided	GPathogenic
Select item 625613	GRCh37/hg19 1q24.2-25.3(chr1:169423492-180367623)	ABL2, ACBD6 +70 more	Copy number gain	not provided	GPathogenic

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