C0265252[trait identifier] AND "Equipe Genetique des Anomalies du Deve - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 212070	NM_004586.3(RPS6KA3):c.2168G>A (p.Arg723His)	RPS6KA3 (R723H)	Single nucleotide variant (missense variant)	not provided +5 more	GBenign/Likely benign
Select item 559935	NM_004586.3(RPS6KA3):c.629C>T (p.Thr210Ile)	RPS6KA3 (T210I)	Single nucleotide variant (missense variant)	Coffin-Lowry syndrome	GLikely pathogenic