ClinVar for PubMed (Select 12325025) - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2814413	NM_002834.5(PTPN11):c.184_185delinsAT (p.Tyr62Ile)	PTPN11 (Y62I +1 more)	Indel (missense variant)	RASopathy	GUncertain significance
Select item 2756656	NM_002834.5(PTPN11):c.185A>C (p.Tyr62Ser)	PTPN11 (Y61S +1 more)	Single nucleotide variant (missense variant)	RASopathy	GLikely pathogenic
Select item 1781469	NM_002834.5(PTPN11):c.185A>G (p.Tyr62Cys)	PTPN11 (Y62C +1 more)	Single nucleotide variant (missense variant)	RASopathy +1 more	GUncertain significance
Select item 1485945	NM_002834.5(PTPN11):c.184T>A (p.Tyr62Asn)	PTPN11 (Y62N +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome 1 +1 more	GLikely pathogenic
Select item 40557	NM_002834.5(PTPN11):c.1505C>T (p.Ser502Leu)	PTPN11 (S502L +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic
Select item 40556	NM_002834.5(PTPN11):c.1504T>G (p.Ser502Ala)	PTPN11 (S502A +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic
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 13332	NM_002834.5(PTPN11):c.1504T>A (p.Ser502Thr)	PTPN11 (S502T +2 more)	Single nucleotide variant (missense variant)	PTPN11-related condition +7 more	GPathogenic
Select item 13329	NM_002834.5(PTPN11):c.184T>G (p.Tyr62Asp)	PTPN11 (Y62D +1 more)	Single nucleotide variant (missense variant)	RASopathy	GPathogenic FDA Recognized database