C4551484[trait identifier] AND "Institute of Human Genetics, Universit - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 13349	NM_002834.5(PTPN11):c.5C>T (p.Thr2Ile)	PTPN11 (T2I)	Single nucleotide variant (missense variant)	RASopathy +7 more	GPathogenic/Likely pathogenic
Select item 976032	NM_002834.5(PTPN11):c.92C>G (p.Ala31Gly)	PTPN11 (A31G)	Single nucleotide variant (missense variant)	LEOPARD syndrome 1	GLikely pathogenic
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 40525	NM_002834.5(PTPN11):c.844A>G (p.Ile282Val)	PTPN11 (I282V +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome and Noonan-related syndrome +11 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	GPathogenic FDA Recognized database
Select item 40553	NM_002834.5(PTPN11):c.1492C>T (p.Arg498Trp)	PTPN11 (R498W +2 more)	Single nucleotide variant (missense variant)	Noonan syndrome and Noonan-related syndrome +10 more	GPathogenic
Select item 40554	NM_002834.5(PTPN11):c.1493G>T (p.Arg498Leu)	PTPN11 (R498L +2 more)	Single nucleotide variant (missense variant)	Noonan syndrome and Noonan-related syndrome +11 more	GPathogenic
Select item 40558	NM_002834.5(PTPN11):c.1507G>C (p.Gly503Arg)	PTPN11 (G503R +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder +9 more	GPathogenic

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