C0410530[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar

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Items: 80

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 307220	NM_002834.5(PTPN11):c.-273G>A	PTPN11	Single nucleotide variant	Noonan syndrome 1 +5 more	GBenign
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 1598388	NM_002834.5(PTPN11):c.14+11C>A	PTPN11	Single nucleotide variant (intron variant)	Noonan syndrome 1 +4 more	GLikely benign
Select item 40482	NM_002834.5(PTPN11):c.124A>G (p.Thr42Ala)	PTPN11 (T42A)	Single nucleotide variant (missense variant)	Metachondromatosis +8 more	GConflicting classifications of pathogenicity
Select item 1341338	NM_002834.5(PTPN11):c.127C>G (p.Leu43Val)	PTPN11 (L43V)	Single nucleotide variant (missense variant)	RASopathy +4 more	GUncertain significance
Select item 561500	NM_002834.5(PTPN11):c.127C>T (p.Leu43Phe)	PTPN11 (L43F)	Single nucleotide variant (missense variant)	Juvenile myelomonocytic leukemia +6 more	GUncertain significance
Select item 40489	NM_002834.5(PTPN11):c.174C>G (p.Asn58Lys)	PTPN11 (N58K +1 more)	Single nucleotide variant (missense variant)	Metachondromatosis +6 more	GPathogenic/Likely pathogenic
Select item 40490	NM_002834.5(PTPN11):c.178G>A (p.Gly60Ser)	PTPN11 (G60S +1 more)	Single nucleotide variant (missense variant)	Metachondromatosis +8 more	GPathogenic/Likely pathogenic
Select item 13330	NM_002834.5(PTPN11):c.182A>G (p.Asp61Gly)	PTPN11 (D61G +1 more)	Single nucleotide variant (missense variant)	LEOPARD syndrome 1 +10 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)	LEOPARD 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)	Cardiovascular phenotype +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)	Cardiovascular phenotype +8 more	GPathogenic
Select item 950704	NM_002834.5(PTPN11):c.222G>A (p.Leu74=)	PTPN11	Single nucleotide variant (synonymous variant)	Noonan syndrome 1 +4 more	GConflicting classifications of pathogenicity
Select item 40502	NM_002834.5(PTPN11):c.228G>T (p.Glu76Asp)	PTPN11 (E76D +1 more)	Single nucleotide variant (missense variant)	Noonan 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)	LEOPARD syndrome 1 +10 more	GPathogenic
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 1502687	NM_002834.5(PTPN11):c.289G>A (p.Glu97Lys)	PTPN11 (E97K +1 more)	Single nucleotide variant (missense variant)	LEOPARD syndrome 1 +4 more	GUncertain significance
Select item 40505	NM_002834.5(PTPN11):c.289G>C (p.Glu97Gln)	PTPN11 (E97Q +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 496183	NM_002834.5(PTPN11):c.327T>G (p.Ser109=)	PTPN11	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +6 more	GLikely benign
Select item 1339747	NM_002834.5(PTPN11):c.329A>G (p.Glu110Gly)	PTPN11 (E109G +1 more)	Single nucleotide variant (missense variant)	PTPN11-related disorder +5 more	GConflicting classifications of pathogenicity
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 40514	NM_002834.5(PTPN11):c.455G>A (p.Arg152His)	PTPN11 (R152H +1 more)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 517561	NM_002834.5(PTPN11):c.519C>G (p.Arg173=)	PTPN11	Single nucleotide variant (synonymous variant)	RASopathy +5 more	GLikely benign
Select item 258817	NM_002834.5(PTPN11):c.526-17T>C	PTPN11	Single nucleotide variant (intron variant)	not specified +5 more	GBenign/Likely benign
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 699634	NM_002834.5(PTPN11):c.616T>C (p.Leu206=)	PTPN11	Single nucleotide variant (synonymous variant)	LEOPARD syndrome 1 +6 more	GLikely benign
Select item 235046	NM_002834.5(PTPN11):c.642G>A (p.Gln214=)	PTPN11	Single nucleotide variant (synonymous variant)	LEOPARD syndrome 1 +6 more	GUncertain significance
Select item 448922	NM_002834.5(PTPN11):c.643-6dup	PTPN11	Duplication (intron variant)	RASopathy	GLikely benign FDA Recognized database
Select item 1367799	NM_002834.5(PTPN11):c.691C>T (p.Arg231Ter)	PTPN11 (R231* +1 more)	Single nucleotide variant (nonsense)	RASopathy +4 more	GPathogenic/Likely pathogenic
Select item 804174	NM_002834.5(PTPN11):c.762ACA[2] (p.Gln257del)	PTPN11 (Q257del +1 more)	Microsatellite (inframe_deletion)	RASopathy +5 more	GConflicting classifications of pathogenicity
Select item 1422291	NM_002834.5(PTPN11):c.770A>G (p.Gln257Arg)	PTPN11 (Q257R +1 more)	Single nucleotide variant (missense variant)	RASopathy +5 more	GUncertain significance
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 561753	NM_002834.5(PTPN11):c.788A>G (p.Tyr263Cys)	PTPN11 (Y263C +1 more)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
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)	LEOPARD syndrome 1 +7 more	GPathogenic/Likely pathogenic
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 1194782	NM_002834.5(PTPN11):c.865A>G (p.Arg289Gly)	PTPN11 (R288G +1 more)	Single nucleotide variant (missense variant)	Juvenile myelomonocytic leukemia +6 more	GConflicting classifications of pathogenicity
Select item 520350	NM_002834.5(PTPN11):c.874C>T (p.Leu292=)	PTPN11	Single nucleotide variant (synonymous variant)	RASopathy +5 more	GLikely benign
Select item 181500	NM_002834.5(PTPN11):c.893A>G (p.Asn298Ser)	PTPN11 (N298S +1 more)	Single nucleotide variant (missense variant)	Cardio-facio-cutaneous syndrome +8 more	GConflicting classifications of pathogenicity
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)	Metachondromatosis +9 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 372668	NM_002834.5(PTPN11):c.931A>G (p.Met311Val)	PTPN11 (M311V +1 more)	Single nucleotide variant (missense variant)	not specified +6 more	GUncertain significance
Select item 1311645	NM_002834.5(PTPN11):c.957C>T (p.Asn319=)	PTPN11	Single nucleotide variant (synonymous variant)	RASopathy +7 more	GConflicting classifications of pathogenicity
Select item 258813	NM_002834.5(PTPN11):c.1011G>A (p.Thr337=)	PTPN11	Single nucleotide variant (synonymous variant)	RASopathy +7 more	GLikely benign
Select item 647494	NM_002834.5(PTPN11):c.1041A>G (p.Gln347=)	PTPN11	Single nucleotide variant (synonymous variant)	RASopathy +4 more	GConflicting classifications of pathogenicity
Select item 515382	NM_002834.5(PTPN11):c.1047C>T (p.Asn349=)	PTPN11	Single nucleotide variant (synonymous variant)	not specified +6 more	GLikely benign
Select item 40540	NM_002834.5(PTPN11):c.1048T>G (p.Ser350Ala)	PTPN11 (S350A +1 more)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 40544	NM_002834.5(PTPN11):c.1124A>G (p.Tyr375Cys)	PTPN11 (Y375C +1 more)	Single nucleotide variant (missense variant)	RASopathy +6 more	GUncertain significance
Select item 1027635	NM_002834.5(PTPN11):c.1131A>C (p.Leu377=)	PTPN11	Single nucleotide variant (synonymous variant)	RASopathy +7 more	GLikely benign
Select item 597106	NM_002834.5(PTPN11):c.1144G>A (p.Val382Ile)	PTPN11 (V382I +1 more)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 227883	NM_002834.5(PTPN11):c.1224+15G>A	PTPN11	Single nucleotide variant (intron variant)	not specified +5 more	GBenign/Likely benign
Select item 44596	NM_002834.5(PTPN11):c.1226G>C (p.Gly409Ala)	PTPN11 (G409A +2 more)	Single nucleotide variant (missense variant)	Juvenile myelomonocytic leukemia +9 more	GUncertain significance
Select item 1553042	NM_002834.5(PTPN11):c.1233G>A (p.Thr411=)	PTPN11	Single nucleotide variant (synonymous variant)	LEOPARD syndrome 1 +4 more	GLikely benign
Select item 449117	NM_002834.5(PTPN11):c.1261C>T (p.Arg421Trp)	PTPN11 (R421W +2 more)	Single nucleotide variant (missense variant)	RASopathy +6 more	GUncertain significance
Select item 289057	NM_002834.5(PTPN11):c.1327C>T (p.His443Tyr)	PTPN11 (H443Y +2 more)	Single nucleotide variant (missense variant)	Noonan syndrome 1 +6 more	GUncertain significance
Select item 138839	NM_002834.5(PTPN11):c.1379+20C>T	PTPN11	Single nucleotide variant (3 prime UTR variant +1 more)	Juvenile myelomonocytic leukemia +7 more	GBenign/Likely benign
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 40549	NM_002834.5(PTPN11):c.1471C>A (p.Pro491Thr)	PTPN11 (P491T +2 more)	Single nucleotide variant (missense variant)	not provided +7 more	GPathogenic/Likely pathogenic
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 40551	NM_002834.5(PTPN11):c.1472C>A (p.Pro491His)	PTPN11 (P491H +2 more)	Single nucleotide variant (missense variant)	Metachondromatosis +10 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)	Metachondromatosis +9 more	GPathogenic
Select item 1463473	NM_002834.5(PTPN11):c.1498C>G (p.Gln500Glu)	PTPN11 (Q504E +2 more)	Single nucleotide variant (missense variant)	Juvenile myelomonocytic leukemia +5 more	GUncertain significance
Select item 13332	NM_002834.5(PTPN11):c.1504T>A (p.Ser502Thr)	PTPN11 (S502T +2 more)	Single nucleotide variant (missense variant)	LEOPARD syndrome 1 +6 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 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 135111	NM_002834.5(PTPN11):c.1594G>A (p.Glu532Lys)	PTPN11 (E532K +2 more)	Single nucleotide variant (missense variant)	LEOPARD syndrome 1 +7 more	GUncertain significance
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
Select item 177887	NM_002834.5(PTPN11):c.1682C>T (p.Pro561Leu)	PTPN11 (P561L +2 more)	Single nucleotide variant (missense variant)	Noonan syndrome 1 +7 more	GConflicting classifications of pathogenicity
Select item 1428855	NM_002834.5(PTPN11):c.1685C>T (p.Pro562Leu)	PTPN11 (P561L +2 more)	Single nucleotide variant (missense variant)	RASopathy +4 more	GUncertain significance
Select item 44602	NM_002834.5(PTPN11):c.1746C>T (p.Asn582=)	PTPN11	Single nucleotide variant (synonymous variant)	RASopathy +7 more	GBenign/Likely benign

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Items: 80