Related gene-specific medical variations for Gene (Select 5163) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3210960	NM_002610.5(PDK1):c.83T>G (p.Phe28Cys)	LOC129935114, PDK1 +1 more (F28C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3210958	NM_002610.5(PDK1):c.50C>A (p.Pro17Gln)	LOC129935114, PDK1 +1 more (P17Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3210953	NM_002610.5(PDK1):c.166C>T (p.Pro56Ser)	LOC129935114, PDK1 +1 more (P56S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2497704	NM_002610.5(PDK1):c.406T>C (p.Tyr136His)	PDK1 (Y136H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2402971	NM_002610.5(PDK1):c.44C>T (p.Pro15Leu)	LOC129935114, PDK1 +1 more (P15L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1341079	GRCh37/hg19 2q31.1(chr2:173427759-173585237)x1	PDK1	Copy number loss	not provided	GUncertain significance

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