"3billion"[submitter] AND "PTPN11"[gene] - ClinVar

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Items: 28

	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)	Noonan syndrome +7 more	GPathogenic/Likely pathogenic
Select item 40487	NM_002834.5(PTPN11):c.172A>G (p.Asn58Asp)	PTPN11 (N58D +1 more)	Single nucleotide variant (missense variant)	Metachondromatosis +10 more	GPathogenic
Select item 40493	NM_002834.5(PTPN11):c.179G>C (p.Gly60Ala)	PTPN11 (G60A +1 more)	Single nucleotide variant (missense variant)	RASopathy +5 more	GPathogenic
Select item 40495	NM_002834.5(PTPN11):c.181G>A (p.Asp61Asn)	PTPN11 (D61N +1 more)	Single nucleotide variant (missense variant)	LEOPARD syndrome 1 +9 more	GPathogenic
Select item 1485945	NM_002834.5(PTPN11):c.184T>A (p.Tyr62Asn)	PTPN11 (Y62N +1 more)	Single nucleotide variant (missense variant)	RASopathy +1 more	GLikely pathogenic
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
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 44603	NM_002834.5(PTPN11):c.209A>G (p.Lys70Arg)	PTPN11 (K70R +1 more)	Single nucleotide variant (missense variant)	RASopathy	GPathogenic FDA Recognized database
Select item 40501	NM_002834.5(PTPN11):c.217A>C (p.Thr73Pro)	PTPN11 (T73P +1 more)	Single nucleotide variant (missense variant)	RASopathy +2 more	GPathogenic/Likely pathogenic
Select item 13334	NM_002834.5(PTPN11):c.218C>T (p.Thr73Ile)	PTPN11 (T73I +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +8 more	GPathogenic
Select item 13340	NM_002834.5(PTPN11):c.236A>G (p.Gln79Arg)	PTPN11 (Q79R +1 more)	Single nucleotide variant (missense variant)	LEOPARD syndrome 1 +10 more	GPathogenic
Select item 40513	NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp)	PTPN11 (E139D +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome	GPathogenic FDA Recognized database
Select item 981584	NM_002834.5(PTPN11):c.663A>G (p.Ile221Met)	PTPN11 (I220M +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome 1 +2 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)	LEOPARD syndrome 1 +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)	LEOPARD syndrome 1 +11 more	GPathogenic
Select item 40528	NM_002834.5(PTPN11):c.853T>C (p.Phe285Leu)	PTPN11 (F285L +1 more)	Single nucleotide variant (missense variant)	Metachondromatosis +8 more	GPathogenic
Select item 13335	NM_002834.5(PTPN11):c.854T>C (p.Phe285Ser)	PTPN11 (F285S +1 more)	Single nucleotide variant (missense variant)	Metachondromatosis +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	GPathogenic FDA Recognized database
Select item 13327	NM_002834.5(PTPN11):c.923A>G (p.Asn308Ser)	PTPN11 (N308S +1 more)	Single nucleotide variant (missense variant)	LEOPARD syndrome 1 +9 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 40552	NM_002834.5(PTPN11):c.1472C>T (p.Pro491Leu)	PTPN11 (P491L +2 more)	Single nucleotide variant (missense variant)	Metachondromatosis +8 more	GPathogenic
Select item 40553	NM_002834.5(PTPN11):c.1492C>T (p.Arg498Trp)	PTPN11 (R498W +2 more)	Single nucleotide variant (missense variant)	Metachondromatosis +9 more	GPathogenic
Select item 40559	NM_002834.5(PTPN11):c.1507G>A (p.Gly503Arg)	PTPN11 (G503R +2 more)	Single nucleotide variant (missense variant)	Metachondromatosis +8 more	GPathogenic
Select item 40558	NM_002834.5(PTPN11):c.1507G>C (p.Gly503Arg)	PTPN11 (G503R +2 more)	Single nucleotide variant (missense variant)	Metachondromatosis +8 more	GPathogenic
Select item 40561	NM_002834.5(PTPN11):c.1508G>A (p.Gly503Glu)	PTPN11 (G503E +2 more)	Single nucleotide variant (missense variant)	Metachondromatosis +5 more	GPathogenic/Likely pathogenic
Select item 40562	NM_002834.5(PTPN11):c.1510A>G (p.Met504Val)	PTPN11 (M504V +2 more)	Single nucleotide variant (missense variant)	Noonan syndrome	GPathogenic FDA Recognized database
Select item 13345	NM_002834.5(PTPN11):c.1529A>G (p.Gln510Arg)	PTPN11 (Q510R +2 more)	Single nucleotide variant (missense variant)	RASopathy +4 more	GPathogenic/Likely pathogenic
Select item 13344	NM_002834.5(PTPN11):c.1529A>C (p.Gln510Pro)	PTPN11 (Q510P +2 more)	Single nucleotide variant (missense variant)	Noonan syndrome with multiple lentigines	GPathogenic FDA Recognized database

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Items: 28