C4551484[trait identifier] AND "Genetic Testing Center for Deafness, D - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 13333	NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys)	PTPN11 (Y63C +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome	GPathogenic FDA Recognized database
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 13328	NM_002834.5(PTPN11):c.836A>G (p.Tyr279Cys)	PTPN11 (Y279C +1 more)	Single nucleotide variant (missense variant)	PTPN11-related condition +12 more	GPathogenic/Likely pathogenic
Select item 40552	NM_002834.5(PTPN11):c.1472C>T (p.Pro491Leu)	PTPN11 (P491L +2 more)	Single nucleotide variant (missense variant)	PTPN11-related condition +8 more	GPathogenic/Likely pathogenic
Select item 40562	NM_002834.5(PTPN11):c.1510A>G (p.Met504Val)	PTPN11 (M504V +2 more)	Single nucleotide variant (missense variant)	Noonan syndrome	GPathogenic FDA Recognized database
Select item 13345	NM_002834.5(PTPN11):c.1529A>G (p.Gln510Arg)	PTPN11 (Q510R +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic

ClinVar