"3billion"[submitter] AND "RPS6KA3"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2444162	NM_004586.3(RPS6KA3):c.2204T>A (p.Ile735Asn)	RPS6KA3 (I735N)	Single nucleotide variant (missense variant)	Coffin-Lowry syndrome	GUncertain significance
Select item 1705400	NM_004586.3(RPS6KA3):c.1960-6_1971del	RPS6KA3	Deletion (splice acceptor variant)	Coffin-Lowry syndrome	GLikely pathogenic
Select item 225519	NM_004586.3(RPS6KA3):c.913C>T (p.Arg305Ter)	RPS6KA3 (R305*)	Single nucleotide variant (nonsense)	Coffin-Lowry syndrome +2 more	GPathogenic

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