"Ambry Genetics"[submitter] AND "RPS6KA2"[gene] - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2405330	NM_021135.6(RPS6KA2):c.2182C>A (p.Leu728Ile)	RPS6KA2 (L639I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523454	NM_021135.6(RPS6KA2):c.2054G>A (p.Arg685Gln)	RPS6KA2 (R596Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459127	NM_021135.6(RPS6KA2):c.1985C>T (p.Thr662Met)	RPS6KA2 (T564M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276384	NM_021135.6(RPS6KA2):c.1976A>G (p.Gln659Arg)	RPS6KA2 (Q561R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403350	NM_021135.6(RPS6KA2):c.1915G>A (p.Asp639Asn)	RPS6KA2 (D541N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296435	NM_021135.6(RPS6KA2):c.1879G>A (p.Gly627Ser)	RPS6KA2 (G635S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403309	NM_021135.6(RPS6KA2):c.1769C>T (p.Ala590Val)	RPS6KA2 (A598V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405000	NM_021135.6(RPS6KA2):c.1499G>A (p.Arg500Gln)	RPS6KA2 (R402Q +4 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2546788	NM_021135.6(RPS6KA2):c.1498C>T (p.Arg500Trp)	RPS6KA2 (R411W +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218278	NM_021135.6(RPS6KA2):c.1469G>A (p.Arg490His)	RPS6KA2 (R401H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465156	NM_021135.6(RPS6KA2):c.1441T>G (p.Phe481Val)	RPS6KA2 (F383V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156204	NM_021135.6(RPS6KA2):c.1271G>T (p.Gly424Val)	RPS6KA2 (G335V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215463	NM_021135.6(RPS6KA2):c.1093C>T (p.Pro365Ser)	RPS6KA2 (P365S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156203	NM_021135.6(RPS6KA2):c.1064G>A (p.Arg355Gln)	RPS6KA2 (R257Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510447	NM_021135.6(RPS6KA2):c.983G>A (p.Arg328Gln)	RPS6KA2 (R230Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209033	NM_021135.6(RPS6KA2):c.979T>C (p.Tyr327His)	RPS6KA2 (Y327H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230132	NM_021135.6(RPS6KA2):c.538A>G (p.Ile180Val)	LOC126859891, RPS6KA2 (I82V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599187	NM_021135.6(RPS6KA2):c.242G>A (p.Gly81Glu)	RPS6KA2 (G81E +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2560301	NM_021135.6(RPS6KA2):c.151T>C (p.Phe51Leu)	RPS6KA2 (F76L +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3156206	NM_021135.6(RPS6KA2):c.121A>G (p.Ile41Val)	RPS6KA2 (I41V +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3156205	NM_021135.6(RPS6KA2):c.109G>A (p.Val37Ile)	RPS6KA2 (V45I +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2233369	NM_001006932.3(RPS6KA2):c.119A>G (p.Glu40Gly)	RPS6KA2 (E40G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 22