"Institute of Human Genetics, University of Leipzig Medical Center"[su - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 976321	NM_004586.3(RPS6KA3):c.958G>T (p.Glu320Ter)	RPS6KA3 (E320*)	Single nucleotide variant (nonsense)	Intellectual disability, X-linked 19	GLikely pathogenic
Select item 1697315	NM_004586.3(RPS6KA3):c.460G>C (p.Asp154His)	RPS6KA3 (D154H)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 19	GLikely pathogenic
Select item 2576591	NM_004586.3(RPS6KA3):c.406+1G>T	RPS6KA3	Single nucleotide variant (splice donor variant)	Coffin-Lowry syndrome	GLikely pathogenic

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