Related gene-specific medical variations for Gene (Select 80017) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2600829	NM_004755.4(RPS6KA5):c.52G>C (p.Gly18Arg)	DGLUCY, RPS6KA5 (G18R)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2540711	NM_004755.4(RPS6KA5):c.56G>T (p.Gly19Val)	DGLUCY, RPS6KA5 (G19V)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2467303	NM_004755.4(RPS6KA5):c.62G>T (p.Gly21Val)	DGLUCY, RPS6KA5 (G21V)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2356001	NM_004755.4(RPS6KA5):c.22A>C (p.Ser8Arg)	DGLUCY, RPS6KA5 (S8R)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2262186	NM_004755.4(RPS6KA5):c.92A>T (p.Glu31Val)	DGLUCY, LOC130056290 +1 more (E31V)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2251395	NM_004755.4(RPS6KA5):c.50A>G (p.Asp17Gly)	DGLUCY, RPS6KA5 (D17G)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance

ClinVar