C0175704[trait identifier] AND "Blueprint Genetics"[submitter] - 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 (non-coding transcript variant +1 more)	Noonan syndrome	GPathogenic FDA Recognized database
Select item 29807	NM_004333.6(BRAF):c.721A>C (p.Thr241Pro)	BRAF (T241P +4 more)	Single nucleotide variant (missense variant)	Cardio-facio-cutaneous syndrome +7 more	GPathogenic/Likely pathogenic
Select item 40500	NM_002834.5(PTPN11):c.214G>C (p.Ala72Pro)	PTPN11 (A72P +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 13328	NM_002834.5(PTPN11):c.836A>G (p.Tyr279Cys)	PTPN11 (Y279C +1 more)	Single nucleotide variant (missense variant)	not provided +12 more	GPathogenic/Likely pathogenic
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 40546	NM_002834.5(PTPN11):c.1381G>T (p.Ala461Ser)	PTPN11 (A461S +2 more)	Single nucleotide variant (missense variant)	RASopathy +3 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 40563	NM_002834.5(PTPN11):c.1517A>C (p.Gln506Pro)	PTPN11 (Q506P +2 more)	Single nucleotide variant (missense variant)	not provided +6 more	GPathogenic

ClinVar