"Baylor Genetics"[submitter] AND "AKT1"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1031512	NM_001382430.1(AKT1):c.1351C>T (p.Pro451Ser)	AKT1 (P451S)	Single nucleotide variant (missense variant)	Cowden syndrome 6	GUncertain significance
Select item 625744	GRCh37/hg19 14q32.2-32.33(chr14:100575917-107281934)	BAG5, MIR380 +98 more	Copy number gain	not provided	GPathogenic
Select item 625708	GRCh37/hg19 14q32.32-32.33(chr14:103804791-105677579)	KLC1, MARK3 +30 more	Copy number loss	not provided	GLikely pathogenic

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