C4551602[trait identifier] AND "Center of Genomic medicine, Geneva, Un - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 40493	NM_002834.5(PTPN11):c.179G>C (p.Gly60Ala)	PTPN11 (G60A +1 more)	Single nucleotide variant (missense variant)	RASopathy +5 more	GPathogenic
Select item 40502	NM_002834.5(PTPN11):c.228G>T (p.Glu76Asp)	PTPN11 (E76D +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome +7 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 40518	NM_002834.5(PTPN11):c.767A>G (p.Gln256Arg)	PTPN11 (Q256R +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome 1 +6 more	GPathogenic
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 13328	NM_002834.5(PTPN11):c.836A>G (p.Tyr279Cys)	PTPN11 (Y279C +1 more)	Single nucleotide variant (missense variant)	Metachondromatosis +12 more	GPathogenic/Likely pathogenic
Select item 13326	NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp)	PTPN11 (N308D +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome	GPathogenic FDA Recognized database
Select item 13327	NM_002834.5(PTPN11):c.923A>G (p.Asn308Ser)	PTPN11 (N308S +1 more)	Single nucleotide variant (missense variant)	Metachondromatosis +9 more	GPathogenic

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