C4551602[trait identifier] AND "Genomics England Pilot Project, Genomi - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 183409	NM_006912.6(RIT1):c.247A>C (p.Thr83Pro)	RIT1 (T83P +2 more)	Single nucleotide variant (missense variant)	RASopathy +4 more	GPathogenic
Select item 40513	NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp)	PTPN11 (E139D +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome	GPathogenic FDA Recognized database
Select item 40525	NM_002834.5(PTPN11):c.844A>G (p.Ile282Val)	PTPN11 (I282V +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome and Noonan-related syndrome +11 more	GPathogenic

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