"Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic C - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 40482	NM_002834.5(PTPN11):c.124A>G (p.Thr42Ala)	PTPN11 (T42A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +8 more	GPathogenic
Select item 40486	NM_002834.5(PTPN11):c.172A>C (p.Asn58His)	PTPN11 (N58H +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome +3 more	GPathogenic
Select item 40488	NM_002834.5(PTPN11):c.174C>A (p.Asn58Lys)	PTPN11 (N58K +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome and Noonan-related syndrome +5 more	GPathogenic
Select item 40490	NM_002834.5(PTPN11):c.178G>A (p.Gly60Ser)	PTPN11 (G60S +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome +8 more	GPathogenic/Likely pathogenic
Select item 40495	NM_002834.5(PTPN11):c.181G>A (p.Asp61Asn)	PTPN11 (D61N +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome and Noonan-related syndrome +9 more	GPathogenic
Select item 13330	NM_002834.5(PTPN11):c.182A>G (p.Asp61Gly)	PTPN11 (D61G +1 more)	Single nucleotide variant (missense variant)	not provided +11 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
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 13325	NM_002834.5(PTPN11):c.215C>G (p.Ala72Gly)	PTPN11 (A72G +1 more)	Single nucleotide variant (missense variant)	RASopathy +9 more	GPathogenic/Likely pathogenic
Select item 13340	NM_002834.5(PTPN11):c.236A>G (p.Gln79Arg)	PTPN11 (Q79R +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome +10 more	GPathogenic
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 40509	NM_002834.5(PTPN11):c.332+17T>G	PTPN11	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
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 40518	NM_002834.5(PTPN11):c.767A>G (p.Gln256Arg)	PTPN11 (Q256R +1 more)	Single nucleotide variant (missense variant)	not provided +6 more	GPathogenic
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 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 44614	NM_002834.5(PTPN11):c.802G>A (p.Gly268Ser)	PTPN11 (G268S +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome +7 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 and Noonan-related syndrome +11 more	GPathogenic
Select item 40528	NM_002834.5(PTPN11):c.853T>C (p.Phe285Leu)	PTPN11 (F285L +1 more)	Single nucleotide variant (missense variant)	not provided +9 more	GPathogenic
Select item 13335	NM_002834.5(PTPN11):c.854T>C (p.Phe285Ser)	PTPN11 (F285S +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome +6 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)	Noonan syndrome 3 +9 more	GPathogenic
Select item 40542	NM_002834.5(PTPN11):c.1093-9C>A	PTPN11	Single nucleotide variant (intron variant)	Noonan syndrome 1 +7 more	GBenign
Select item 2692574	NM_002834.5(PTPN11):c.1187A>G (p.Tyr396Cys)	PTPN11 (Y395C +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome 1	GLikely pathogenic
Select item 1703113	NM_002834.5(PTPN11):c.1224A>G (p.Gln408=)	PTPN11	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 852241	NM_002834.5(PTPN11):c.1282G>T (p.Val428Leu)	PTPN11 (V432L +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1517126	NM_002834.5(PTPN11):c.1348A>G (p.Met450Val)	PTPN11 (M449V +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 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 40563	NM_002834.5(PTPN11):c.1517A>C (p.Gln506Pro)	PTPN11 (Q506P +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GPathogenic
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: 33