C0410530[trait identifier] AND "Genome Diagnostics Laboratory, The Hos - ClinVar

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Items: 36

	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 40482	NM_002834.5(PTPN11):c.124A>G (p.Thr42Ala)	PTPN11 (T42A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +8 more	GPathogenic
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 40495	NM_002834.5(PTPN11):c.181G>A (p.Asp61Asn)	PTPN11 (D61N +1 more)	Single nucleotide variant (missense variant)	Metachondromatosis +9 more	GPathogenic
Select item 13330	NM_002834.5(PTPN11):c.182A>G (p.Asp61Gly)	PTPN11 (D61G +1 more)	Single nucleotide variant (missense variant)	LEOPARD syndrome 1 +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 13324	NM_002834.5(PTPN11):c.214G>T (p.Ala72Ser)	PTPN11 (A72S +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome 1 +7 more	GPathogenic
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 13334	NM_002834.5(PTPN11):c.218C>T (p.Thr73Ile)	PTPN11 (T73I +1 more)	Single nucleotide variant (missense variant)	Metachondromatosis +8 more	GPathogenic
Select item 40502	NM_002834.5(PTPN11):c.228G>T (p.Glu76Asp)	PTPN11 (E76D +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome and Noonan-related syndrome +7 more	GPathogenic
Select item 13340	NM_002834.5(PTPN11):c.236A>G (p.Gln79Arg)	PTPN11 (Q79R +1 more)	Single nucleotide variant (missense variant)	PTPN11-related disorder +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 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 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 13328	NM_002834.5(PTPN11):c.836A>G (p.Tyr279Cys)	PTPN11 (Y279C +1 more)	Single nucleotide variant (missense variant)	PTPN11-related disorder +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)	RASopathy +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 40535	NM_002834.5(PTPN11):c.923A>C (p.Asn308Thr)	PTPN11 (N308T +1 more)	Single nucleotide variant (missense variant)	RASopathy +10 more	GPathogenic/Likely pathogenic
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 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 1334199	NM_002834.5(PTPN11):c.991C>T (p.Gln331Ter)	PTPN11 (Q330* +1 more)	Single nucleotide variant (nonsense)	Metachondromatosis	GLikely pathogenic
Select item 40542	NM_002834.5(PTPN11):c.1093-9C>A	PTPN11	Single nucleotide variant (intron variant)	Metachondromatosis +7 more	GBenign
Select item 44596	NM_002834.5(PTPN11):c.1226G>C (p.Gly409Ala)	PTPN11 (G409A +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +8 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 40552	NM_002834.5(PTPN11):c.1472C>T (p.Pro491Leu)	PTPN11 (P491L +2 more)	Single nucleotide variant (missense variant)	Noonan syndrome 1 +8 more	GPathogenic/Likely pathogenic
Select item 40553	NM_002834.5(PTPN11):c.1492C>T (p.Arg498Trp)	PTPN11 (R498W +2 more)	Single nucleotide variant (missense variant)	LEOPARD syndrome 1 +10 more	GPathogenic
Select item 40559	NM_002834.5(PTPN11):c.1507G>A (p.Gly503Arg)	PTPN11 (G503R +2 more)	Single nucleotide variant (missense variant)	Metachondromatosis +9 more	GPathogenic
Select item 135111	NM_002834.5(PTPN11):c.1594G>A (p.Glu532Lys)	PTPN11 (E532K +2 more)	Single nucleotide variant (missense variant)	not provided +7 more	GUncertain significance
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
Select item 307236	NM_002834.5(PTPN11):c.*1006del	PTPN11	Deletion (3 prime UTR variant)	Noonan syndrome and Noonan-related syndrome +3 more	GLikely benign

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Items: 36