C4551602[trait identifier] AND "Biochemical Molecular Genetic Laborato - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 183403	NM_006912.6(RIT1):c.229G>A (p.Ala77Thr)	RIT1 (A77T +2 more)	Single nucleotide variant (missense variant)	Noonan syndrome 8 +3 more	GPathogenic/Likely pathogenic
Select item 40487	NM_002834.5(PTPN11):c.172A>G (p.Asn58Asp)	PTPN11 (N58D +1 more)	Single nucleotide variant (missense variant)	LEOPARD syndrome 1 +11 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 40522	NM_002834.5(PTPN11):c.794G>A (p.Arg265Gln)	PTPN11 (R265Q +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 1 +11 more	GPathogenic
Select item 13331	NM_002834.5(PTPN11):c.1403C>T (p.Thr468Met)	PTPN11 (T468M +2 more)	Single nucleotide variant (missense variant)	Noonan syndrome with multiple lentigines	GPathogenic FDA Recognized database
Select item 40550	NM_002834.5(PTPN11):c.1471C>T (p.Pro491Ser)	PTPN11 (P491S +2 more)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic
Select item 40559	NM_002834.5(PTPN11):c.1507G>A (p.Gly503Arg)	PTPN11 (G503R +2 more)	Single nucleotide variant (missense variant)	PTPN11-related condition +9 more	GPathogenic

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