C4551602[trait identifier] AND "Centogene AG - the Rare Disease Compan - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 13957	NM_002880.4(RAF1):c.770C>T (p.Ser257Leu)	RAF1 (S257L +3 more)	Single nucleotide variant (missense variant +1 more)	Noonan syndrome	GPathogenic FDA Recognized database
Select item 12602	NM_005343.4(HRAS):c.34G>A (p.Gly12Ser)	HRAS, LRRC56 (G12S)	Single nucleotide variant (missense variant +1 more)	Costello syndrome	GPathogenic FDA Recognized database
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 224414	NM_002834.5(PTPN11):c.205G>A (p.Glu69Lys)	PTPN11 (E69K +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 40508	NM_002834.5(PTPN11):c.329A>C (p.Glu110Ala)	PTPN11 (E110A +1 more)	Single nucleotide variant (missense variant)	RASopathy +5 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

ClinVar