"Diagnostic Laboratory, Strasbourg University Hospital"[submitter] AND - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 11658	NM_004586.3(RPS6KA3):c.2186G>A (p.Arg729Gln)	RPS6KA3 (R729Q)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 978887	NM_004586.3(RPS6KA3):c.1009A>G (p.Arg337Gly)	RPS6KA3 (R337G)	Single nucleotide variant (missense variant)	Intellectual disability	GLikely pathogenic
Select item 547761	NM_004586.3(RPS6KA3):c.328C>T (p.Arg110Ter)	RPS6KA3 (R110*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic

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ClinVar