"Ambry Genetics"[submitter] AND "PTPN11"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1160776	NM_002834.5(PTPN11):c.6A>G (p.Thr2=)	PTPN11	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 2568101	NM_002834.5(PTPN11):c.18G>C (p.Trp6Cys)	PTPN11 (W6C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2587734	NM_002834.5(PTPN11):c.28A>T (p.Asn10Tyr)	PTPN11 (N10Y)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 838860	NM_002834.5(PTPN11):c.28A>G (p.Asn10Asp)	PTPN11 (N10D)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
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 561739	NM_002834.5(PTPN11):c.103A>C (p.Lys35Gln)	PTPN11 (K35Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1789068	NM_002834.5(PTPN11):c.108T>C (p.Ser36=)	PTPN11	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 40482	NM_002834.5(PTPN11):c.124A>G (p.Thr42Ala)	PTPN11 (T42A)	Single nucleotide variant (missense variant)	Noonan syndrome 1 +8 more	GPathogenic
Select item 287230	NM_002834.5(PTPN11):c.132C>T (p.Ser44=)	PTPN11	Single nucleotide variant (synonymous variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 1775476	NM_002834.5(PTPN11):c.156C>T (p.Thr52=)	PTPN11	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 518867	NM_002834.5(PTPN11):c.162C>T (p.Ile54=)	PTPN11	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 40487	NM_002834.5(PTPN11):c.172A>G (p.Asn58Asp)	PTPN11 (N58D +1 more)	Single nucleotide variant (missense variant)	LEOPARD syndrome 1 +11 more	GPathogenic
Select item 372483	NM_002834.5(PTPN11):c.173A>G (p.Asn58Ser)	PTPN11 (N58S +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 288033	NM_002834.5(PTPN11):c.175A>G (p.Thr59Ala)	PTPN11 (T59A +1 more)	Single nucleotide variant (missense variant)	RASopathy +3 more	GConflicting classifications of pathogenicity
Select item 41442	NM_002834.5(PTPN11):c.178G>T (p.Gly60Cys)	PTPN11 (G60C +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 40493	NM_002834.5(PTPN11):c.179G>C (p.Gly60Ala)	PTPN11 (G60A +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic
Select item 40495	NM_002834.5(PTPN11):c.181G>A (p.Asp61Asn)	PTPN11 (D61N +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome 3 +10 more	GPathogenic
Select item 40494	NM_002834.5(PTPN11):c.181G>C (p.Asp61His)	PTPN11 (D61H +1 more)	Single nucleotide variant (missense variant)	not provided +2 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 1781469	NM_002834.5(PTPN11):c.185A>G (p.Tyr62Cys)	PTPN11 (Y62C +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 224414	NM_002834.5(PTPN11):c.205G>A (p.Glu69Lys)	PTPN11 (E69K +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 13325	NM_002834.5(PTPN11):c.215C>G (p.Ala72Gly)	PTPN11 (A72G +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome and Noonan-related syndrome +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)	not provided +8 more	GPathogenic
Select item 40503	NM_002834.5(PTPN11):c.228G>C (p.Glu76Asp)	PTPN11 (E76D +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome +4 more	GPathogenic
Select item 13340	NM_002834.5(PTPN11):c.236A>G (p.Gln79Arg)	PTPN11 (Q79R +1 more)	Single nucleotide variant (missense variant)	not provided +11 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 1796920	NM_002834.5(PTPN11):c.285C>A (p.Val95=)	PTPN11	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 2587732	NM_002834.5(PTPN11):c.302C>T (p.Pro101Leu)	PTPN11 (P100L +1 more)	Single nucleotide variant (missense variant)	RASopathy +1 more	GUncertain significance
Select item 496183	NM_002834.5(PTPN11):c.327T>G (p.Ser109=)	PTPN11	Single nucleotide variant (synonymous variant)	not specified +6 more	GLikely benign
Select item 3222834	NM_002834.5(PTPN11):c.333-3del	PTPN11	Deletion (intron variant)	Cardiovascular phenotype	GUncertain significance
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 1736690	NM_002834.5(PTPN11):c.397G>A (p.Gly133Ser)	PTPN11 (G132S +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
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 40512	NM_002834.5(PTPN11):c.417G>T (p.Glu139Asp)	PTPN11 (E139D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GPathogenic
Select item 520352	NM_002834.5(PTPN11):c.426C>T (p.Ser142=)	PTPN11	Single nucleotide variant (synonymous variant)	Noonan syndrome and Noonan-related syndrome +3 more	GConflicting classifications of pathogenicity
Select item 588818	NM_002834.5(PTPN11):c.438T>C (p.Asp146=)	PTPN11	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 40514	NM_002834.5(PTPN11):c.455G>A (p.Arg152His)	PTPN11 (R152H +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GUncertain significance
Select item 2568098	NM_002834.5(PTPN11):c.456C>T (p.Arg152=)	PTPN11	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 451613	NM_002834.5(PTPN11):c.461G>C (p.Gly154Ala)	PTPN11 (G154A +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1024113	NM_002834.5(PTPN11):c.470A>G (p.Lys157Arg)	PTPN11 (K156R +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1486687	NM_002834.5(PTPN11):c.479G>A (p.Ser160Asn)	PTPN11 (S160N +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 40515	NM_002834.5(PTPN11):c.486C>T (p.Asp162=)	PTPN11	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign/Likely benign
Select item 181497	NM_002834.5(PTPN11):c.487G>A (p.Gly163Ser)	PTPN11 (G163S +1 more)	Single nucleotide variant (missense variant)	RASopathy +2 more	GUncertain significance
Select item 1745844	NM_002834.5(PTPN11):c.517C>T (p.Arg173Cys)	PTPN11 (R172C +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 40516	NM_002834.5(PTPN11):c.525+12G>C	PTPN11	Single nucleotide variant (intron variant)	RASopathy	GBenign FDA Recognized database
Select item 1896905	NM_002834.5(PTPN11):c.528A>G (p.Glu176=)	PTPN11	Single nucleotide variant (synonymous variant)	RASopathy +1 more	GLikely benign
Select item 378443	NM_002834.5(PTPN11):c.537C>T (p.Tyr179=)	PTPN11	Single nucleotide variant (synonymous variant)	not specified +3 more	GLikely benign
Select item 258819	NM_002834.5(PTPN11):c.540C>T (p.Asp180=)	PTPN11	Single nucleotide variant (synonymous variant)	not specified +3 more	GLikely benign
Select item 2453879	NM_002834.5(PTPN11):c.555A>G (p.Glu185=)	PTPN11	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 44609	NM_002834.5(PTPN11):c.556C>T (p.Arg186Trp)	PTPN11 (R186W +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1748415	NM_002834.5(PTPN11):c.557G>A (p.Arg186Gln)	PTPN11 (R185Q +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
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 1422308	NM_002834.5(PTPN11):c.563A>G (p.Asp188Gly)	PTPN11 (D188G +1 more)	Single nucleotide variant (missense variant)	RASopathy +5 more	GUncertain significance
Select item 1190424	NM_002834.5(PTPN11):c.575A>G (p.Asp192Gly)	PTPN11 (D191G +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 741983	NM_002834.5(PTPN11):c.615A>G (p.Thr205=)	PTPN11	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 699634	NM_002834.5(PTPN11):c.616T>C (p.Leu206=)	PTPN11	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +7 more	GLikely benign
Select item 220171	NM_002834.5(PTPN11):c.624A>G (p.Thr208=)	PTPN11	Single nucleotide variant (synonymous variant)	RASopathy +2 more	GConflicting classifications of pathogenicity
Select item 235046	NM_002834.5(PTPN11):c.642G>A (p.Gln214=)	PTPN11	Single nucleotide variant (synonymous variant)	RASopathy +6 more	GUncertain significance
Select item 503545	NM_002834.5(PTPN11):c.652A>G (p.Thr218Ala)	PTPN11 (T218A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1757211	NM_002834.5(PTPN11):c.710C>T (p.Ala237Val)	PTPN11 (A236V +1 more)	Single nucleotide variant (missense variant)	RASopathy +1 more	GUncertain significance
Select item 741984	NM_002834.5(PTPN11):c.757-5T>C	PTPN11	Single nucleotide variant (intron variant)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 2453881	NM_002834.5(PTPN11):c.762A>G (p.Leu254=)	PTPN11	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
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 3222835	NM_002834.5(PTPN11):c.772G>C (p.Glu258Gln)	PTPN11 (E257Q +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 561753	NM_002834.5(PTPN11):c.788A>G (p.Tyr263Cys)	PTPN11 (Y263C +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome 1 +6 more	GUncertain significance
Select item 561741	NM_002834.5(PTPN11):c.794G>T (p.Arg265Leu)	PTPN11 (R265L +1 more)	Single nucleotide variant (missense variant)	RASopathy +3 more	GConflicting classifications of pathogenicity
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)	Cardiovascular phenotype +7 more	GPathogenic/Likely pathogenic
Select item 2568100	NM_002834.5(PTPN11):c.813A>G (p.Gln271=)	PTPN11	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 40524	NM_002834.5(PTPN11):c.824A>C (p.Asn275Thr)	PTPN11 (N275T +1 more)	Single nucleotide variant (missense variant)	LEOPARD syndrome 1 +5 more	GConflicting classifications of pathogenicity
Select item 372625	NM_002834.5(PTPN11):c.827A>G (p.Lys276Arg)	PTPN11 (K276R +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 13328	NM_002834.5(PTPN11):c.836A>G (p.Tyr279Cys)	PTPN11 (Y279C +1 more)	Single nucleotide variant (missense variant)	not provided +12 more	GPathogenic/Likely pathogenic
Select item 1763391	NM_002834.5(PTPN11):c.843C>T (p.Asn281=)	PTPN11	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 40525	NM_002834.5(PTPN11):c.844A>G (p.Ile282Val)	PTPN11 (I282V +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome 1 +11 more	GPathogenic
Select item 40526	NM_002834.5(PTPN11):c.846C>G (p.Ile282Met)	PTPN11 (I282M +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome +4 more	GPathogenic/Likely pathogenic
Select item 3149062	NM_002834.5(PTPN11):c.848T>A (p.Leu283Gln)	PTPN11 (L283Q +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2435282	NM_002834.5(PTPN11):c.849G>T (p.Leu283=)	PTPN11	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
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 181499	NM_002834.5(PTPN11):c.854T>A (p.Phe285Tyr)	PTPN11 (F285Y +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1764158	NM_002834.5(PTPN11):c.864C>G (p.Thr288=)	PTPN11	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 520350	NM_002834.5(PTPN11):c.874C>T (p.Leu292=)	PTPN11	Single nucleotide variant (synonymous variant)	Juvenile myelomonocytic leukemia +5 more	GLikely benign
Select item 40534	NM_002834.5(PTPN11):c.879C>T (p.His293=)	PTPN11	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 1764755	NM_002834.5(PTPN11):c.880G>A (p.Asp294Asn)	PTPN11 (D294N +1 more)	Single nucleotide variant (missense variant)	RASopathy +3 more	GUncertain significance
Select item 1765016	NM_002834.5(PTPN11):c.889C>G (p.Pro297Ala)	PTPN11 (P297A +1 more)	Single nucleotide variant (missense variant)	RASopathy +1 more	GUncertain significance
Select item 181500	NM_002834.5(PTPN11):c.893A>G (p.Asn298Ser)	PTPN11 (N298S +1 more)	Single nucleotide variant (missense variant)	RASopathy +8 more	GConflicting classifications of pathogenicity
Select item 1765342	NM_002834.5(PTPN11):c.898C>A (p.Pro300Thr)	PTPN11 (P299T +1 more)	Single nucleotide variant (missense variant)	RASopathy +2 more	GUncertain significance
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)	Noonan syndrome and Noonan-related syndrome +10 more	GPathogenic/Likely pathogenic
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 372668	NM_002834.5(PTPN11):c.931A>G (p.Met311Val)	PTPN11 (M311V +1 more)	Single nucleotide variant (missense variant)	Juvenile myelomonocytic leukemia +7 more	GConflicting classifications of pathogenicity
Select item 2453880	NM_002834.5(PTPN11):c.934C>A (p.Pro312Thr)	PTPN11 (P312T +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1767207	NM_002834.5(PTPN11):c.950A>G (p.Lys317Arg)	PTPN11 (K316R +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
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 1403388	NM_002834.5(PTPN11):c.955A>G (p.Asn319Asp)	PTPN11 (N318D +1 more)	Single nucleotide variant (missense variant)	RASopathy +1 more	GUncertain significance
Select item 1311645	NM_002834.5(PTPN11):c.957C>T (p.Asn319=)	PTPN11	Single nucleotide variant (synonymous variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 1507406	NM_002834.5(PTPN11):c.967C>A (p.Pro323Thr)	PTPN11 (P322T +1 more)	Single nucleotide variant (missense variant)	RASopathy +1 more	GUncertain significance
Select item 2615518	NM_002834.5(PTPN11):c.984T>C (p.Ile328=)	PTPN11	Single nucleotide variant (synonymous variant)	RASopathy +1 more	GLikely benign

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