"ClinGen RASopathy Variant Curation Expert Panel"[submitter] AND "PTPN - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 44608	NM_002834.5(PTPN11):c.48A>G (p.Ala16=)	PTPN11	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign FDA Recognized database
Select item 135112	NM_002834.5(PTPN11):c.53A>G (p.Asn18Ser)	PTPN11 (N18S)	Single nucleotide variant (missense variant)	RASopathy	GBenign FDA Recognized database
Select item 40484	NM_002834.5(PTPN11):c.155C>T (p.Thr52Ile)	PTPN11 (T52I +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome	GLikely pathogenic FDA Recognized database
Select item 40485	NM_002834.5(PTPN11):c.166A>G (p.Ile56Val)	PTPN11 (I56V +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome and Noonan-related syndrome	GPathogenic FDA Recognized database
Select item 477669	NM_002834.5(PTPN11):c.167T>C (p.Ile56Thr)	PTPN11 (I56T +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome and Noonan-related syndrome	GLikely pathogenic FDA Recognized database
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 40498	NM_002834.5(PTPN11):c.205G>C (p.Glu69Gln)	PTPN11 (E69Q +1 more)	Single nucleotide variant (missense variant)	RASopathy	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 40504	NM_002834.5(PTPN11):c.244A>G (p.Met82Val)	PTPN11 (M82V +1 more)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance FDA Recognized database
Select item 36708	NM_002834.5(PTPN11):c.255C>T (p.His85=)	PTPN11	Single nucleotide variant (synonymous variant)	RASopathy	GBenign FDA Recognized database
Select item 40511	NM_002834.5(PTPN11):c.333-3T>C	PTPN11	Single nucleotide variant (intron variant)	RASopathy	GLikely benign FDA Recognized database
Select item 44607	NM_002834.5(PTPN11):c.392A>G (p.Lys131Arg)	PTPN11 (K131R +1 more)	Single nucleotide variant (missense variant)	RASopathy	GLikely benign FDA Recognized database
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 40516	NM_002834.5(PTPN11):c.525+12G>C	PTPN11	Single nucleotide variant (intron variant)	RASopathy	GBenign FDA Recognized database
Select item 36709	NM_002834.5(PTPN11):c.526-8C>A	PTPN11	Single nucleotide variant (intron variant)	RASopathy	GBenign FDA Recognized database
Select item 178109	NM_002834.5(PTPN11):c.558G>T (p.Arg186=)	PTPN11	Single nucleotide variant (synonymous variant)	RASopathy	GBenign FDA Recognized database
Select item 448922	NM_002834.5(PTPN11):c.643-6dup	PTPN11	Duplication (intron variant)	RASopathy	GLikely benign FDA Recognized database
Select item 40520	NM_002834.5(PTPN11):c.781C>T (p.Leu261Phe)	PTPN11 (L261F +1 more)	Single nucleotide variant (missense variant)	RASopathy	GPathogenic FDA Recognized database
Select item 575203	NM_002834.5(PTPN11):c.782T>A (p.Leu261His)	PTPN11 (L261H +1 more)	Single nucleotide variant (missense variant)	RASopathy	GLikely pathogenic FDA Recognized database
Select item 280939	NM_002834.5(PTPN11):c.782T>G (p.Leu261Arg)	PTPN11 (L261R +1 more)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance FDA Recognized database
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 40530	NM_002834.5(PTPN11):c.854-32A>C	PTPN11	Single nucleotide variant (intron variant)	RASopathy	GBenign FDA Recognized database
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 40536	NM_002834.5(PTPN11):c.925A>G (p.Ile309Val)	PTPN11 (I309V +1 more)	Single nucleotide variant (missense variant)	RASopathy	GBenign FDA Recognized database
Select item 307226	NM_002834.5(PTPN11):c.951G>A (p.Lys317=)	PTPN11	Single nucleotide variant (synonymous variant)	RASopathy	GBenign FDA Recognized database
Select item 181766	NM_002834.5(PTPN11):c.1028G>A (p.Arg343Gln)	PTPN11 (R343Q +1 more)	Single nucleotide variant (missense variant)	RASopathy	GBenign FDA Recognized database
Select item 40541	NM_002834.5(PTPN11):c.1052G>A (p.Arg351Gln)	PTPN11 (R351Q +1 more)	Single nucleotide variant (missense variant)	RASopathy	GBenign FDA Recognized database
Select item 436446	NM_002834.5(PTPN11):c.1221A>G (p.Gly407=)	PTPN11	Single nucleotide variant (synonymous variant)	RASopathy	GBenign FDA Recognized database
Select item 13341	NM_002834.5(PTPN11):c.1232C>T (p.Thr411Met)	PTPN11 (T411M +2 more)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance FDA Recognized database
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 44598	NM_002834.5(PTPN11):c.1449T>G (p.Gly483=)	PTPN11	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign FDA Recognized database
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 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
Select item 40567	NM_002834.5(PTPN11):c.1530G>C (p.Gln510His)	PTPN11 (Q510H +2 more)	Single nucleotide variant (missense variant)	RASopathy	GPathogenic FDA Recognized database
Select item 138843	NM_002834.5(PTPN11):c.1650G>A (p.Ala550=)	PTPN11	Single nucleotide variant (synonymous variant)	RASopathy	GBenign FDA Recognized database
Select item 40570	NM_002834.5(PTPN11):c.1658C>T (p.Thr553Met)	PTPN11 (T553M +2 more)	Single nucleotide variant (missense variant)	RASopathy	GBenign FDA Recognized database
Select item 44599	NM_002834.5(PTPN11):c.1678C>T (p.Leu560Phe)	PTPN11 (L560F +2 more)	Single nucleotide variant (missense variant)	RASopathy	GLikely benign FDA Recognized database

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Items: 38