C4551484[trait identifier] AND "MGZ Medical Genetics Center"[submitter - 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	GPathogenicFDA 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	GPathogenicFDA Recognized database
Select item 40528	NM_002834.5(PTPN11):c.853T>C (p.Phe285Leu)	PTPN11 (F285L +1 more)	Single nucleotide variant (missense variant)	RASopathy +8 more	GPathogenic
Select item 13326	NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp)	PTPN11 (N308D +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome	GPathogenicFDA Recognized database
Select item 13327	NM_002834.5(PTPN11):c.923A>G (p.Asn308Ser)	PTPN11 (N308S +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome 1 +10 more	GPathogenic OLikely oncogenic
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	GPathogenicFDA Recognized database
Select item 40559	NM_002834.5(PTPN11):c.1507G>A (p.Gly503Arg)	PTPN11 (G503R +2 more)	Single nucleotide variant (missense variant)	Noonan syndrome and Noonan-related syndrome +8 more	GPathogenic

ClinVar