"Undiagnosed Diseases Network, NIH"[submitter] AND "RPS6KA3"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3238824	NM_004586.3(RPS6KA3):c.697G>T (p.Glu233Ter)	RPS6KA3 (E233*)	Single nucleotide variant (nonsense)	Coffin-Lowry syndrome	GPathogenic
Select item 522803	NM_004586.3(RPS6KA3):c.646A>G (p.Lys216Glu)	RPS6KA3 (K216E)	Single nucleotide variant (missense variant)	Coffin-Lowry syndrome	GLikely pathogenic