ClinVar for MedGen (Select 98377) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3892217	NM_002834.5(PTPN11):c.1667A>G (p.Asp556Gly)	PTPN11 (D555G +2 more)	Single nucleotide variant (missense variant)	Noonan syndrome 1 +3 more	GUncertain significance
Select item 3892216	NM_002834.5(PTPN11):c.1276C>A (p.His426Asn)	PTPN11 (H430N +2 more)	Single nucleotide variant (missense variant)	Noonan syndrome 1 +3 more	GUncertain significance
Select item 3574269	NM_002834.5(PTPN11):c.1070C>T (p.Thr357Met)	PTPN11 (T356M +1 more)	Single nucleotide variant (missense variant)	LEOPARD syndrome 1 +3 more	GUncertain significance
Select item 3574268	NM_002834.5(PTPN11):c.881A>G (p.Asp294Gly)	PTPN11 (D293G +1 more)	Single nucleotide variant (missense variant)	LEOPARD syndrome 1 +3 more	GUncertain significance
Select item 3574267	NM_002834.5(PTPN11):c.709G>A (p.Ala237Thr)	PTPN11 (A237T +1 more)	Single nucleotide variant (missense variant)	LEOPARD syndrome 1 +3 more	GUncertain significance
Select item 3574264	NM_002834.5(PTPN11):c.643-20C>A	PTPN11	Single nucleotide variant (intron variant)	LEOPARD syndrome 1 +3 more	GUncertain significance
Select item 3574263	NM_002834.5(PTPN11):c.585A>C (p.Glu195Asp)	PTPN11 (E195D +1 more)	Single nucleotide variant (missense variant)	LEOPARD syndrome 1 +3 more	GUncertain significance
Select item 3574262	NM_002834.5(PTPN11):c.570G>T (p.Leu190Phe)	PTPN11 (L189F +1 more)	Single nucleotide variant (missense variant)	LEOPARD syndrome 1 +3 more	GUncertain significance
Select item 3574261	NM_002834.5(PTPN11):c.529C>G (p.Leu177Val)	PTPN11 (L177V +1 more)	Single nucleotide variant (missense variant)	LEOPARD syndrome 1 +3 more	GUncertain significance
Select item 3574260	NM_002834.5(PTPN11):c.513G>C (p.Met171Ile)	PTPN11 (M170I +1 more)	Single nucleotide variant (missense variant)	RASopathy +4 more	GUncertain significance
Select item 3574259	NM_002834.5(PTPN11):c.503C>T (p.Thr168Ile)	PTPN11 (T168I +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 3574258	NM_002834.5(PTPN11):c.467A>G (p.Asp156Gly)	PTPN11 (D155G +1 more)	Single nucleotide variant (missense variant)	LEOPARD syndrome 1 +3 more	GUncertain significance
Select item 3574257	NM_002834.5(PTPN11):c.2T>G (p.Met1Arg)	PTPN11 (M1R)	Single nucleotide variant (missense variant +1 more)	LEOPARD syndrome 1 +3 more	GLikely pathogenic
Select item 3220858	NM_002834.5(PTPN11):c.763C>T (p.Gln255Ter)	PTPN11 (Q254* +1 more)	Single nucleotide variant (nonsense)	Metachondromatosis	GLikely pathogenic
Select item 3024292	NM_002834.5(PTPN11):c.787T>A (p.Tyr263Asn)	PTPN11 (Y262N +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome 1 +3 more	GLikely pathogenic
Select item 2587732	NM_002834.5(PTPN11):c.302C>T (p.Pro101Leu)	PTPN11 (P100L +1 more)	Single nucleotide variant (missense variant)	RASopathy +5 more	GUncertain significance
Select item 2582571	NM_002834.5(PTPN11):c.213T>A (p.Phe71Leu)	PTPN11 (F70L +1 more)	Single nucleotide variant (missense variant)	Metachondromatosis +2 more	GLikely pathogenic
Select item 2435283	NM_002834.5(PTPN11):c.521G>A (p.Cys174Tyr)	PTPN11 (C173Y +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome 1 +4 more	GUncertain significance
Select item 2193847	NM_002834.5(PTPN11):c.853+19C>T	PTPN11	Single nucleotide variant (intron variant)	RASopathy +4 more	GConflicting classifications of pathogenicity
Select item 1804417	NM_002834.5(PTPN11):c.1648G>A (p.Ala550Thr)	PTPN11 (A549T +2 more)	Single nucleotide variant (missense variant)	Noonan syndrome 1 +5 more	GUncertain significance
Select item 1748415	NM_002834.5(PTPN11):c.557G>A (p.Arg186Gln)	PTPN11 (R185Q +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GUncertain significance
Select item 1708482	NM_002834.5(PTPN11):c.1546_1547insCTATCTATA (p.Tyr515_Met516insThrIleTyr)	PTPN11	Insertion (inframe_insertion)	Metachondromatosis	GLikely pathogenic
Select item 1690518	NM_002834.5(PTPN11):c.1742A>C (p.Glu581Ala)	PTPN11 (E580A +2 more)	Single nucleotide variant (missense variant)	RASopathy +5 more	GUncertain significance
Select item 1684677	NM_002834.5(PTPN11):c.28A>C (p.Asn10His)	PTPN11 (N10H)	Single nucleotide variant (missense variant)	Metachondromatosis	GUncertain significance
Select item 1679347	NM_002834.5(PTPN11):c.1070del (p.Thr357fs)	PTPN11 (T356fs +1 more)	Deletion (frameshift variant)	Metachondromatosis	GLikely pathogenic
Select item 1616977	NM_002834.5(PTPN11):c.643-9C>T	PTPN11	Single nucleotide variant (intron variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 1598388	NM_002834.5(PTPN11):c.14+11C>A	PTPN11	Single nucleotide variant (intron variant)	LEOPARD syndrome 1 +4 more	GLikely benign
Select item 1553042	NM_002834.5(PTPN11):c.1233G>A (p.Thr411=)	PTPN11	Single nucleotide variant (synonymous variant)	Noonan syndrome 1 +5 more	GLikely benign
Select item 1502687	NM_002834.5(PTPN11):c.289G>A (p.Glu97Lys)	PTPN11 (E97K +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 1463473	NM_002834.5(PTPN11):c.1498C>G (p.Gln500Glu)	PTPN11 (Q504E +2 more)	Single nucleotide variant (missense variant)	RASopathy +5 more	GUncertain significance
Select item 1446271	NM_002834.5(PTPN11):c.983T>C (p.Ile328Thr)	PTPN11 (I328T +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome 1 +5 more	GUncertain significance
Select item 1428855	NM_002834.5(PTPN11):c.1685C>T (p.Pro562Leu)	PTPN11 (P561L +2 more)	Single nucleotide variant (missense variant)	Juvenile myelomonocytic leukemia +4 more	GUncertain significance
Select item 1425818	NM_002834.5(PTPN11):c.256G>A (p.Gly86Arg)	PTPN11 (G85R +1 more)	Single nucleotide variant (missense variant)	RASopathy +4 more	GUncertain significance
Select item 1422308	NM_002834.5(PTPN11):c.563A>G (p.Asp188Gly)	PTPN11 (D188G +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GUncertain significance
Select item 1422291	NM_002834.5(PTPN11):c.770A>G (p.Gln257Arg)	PTPN11 (Q257R +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GUncertain significance
Select item 1367799	NM_002834.5(PTPN11):c.691C>T (p.Arg231Ter)	PTPN11 (R231* +1 more)	Single nucleotide variant (nonsense)	LEOPARD syndrome 1 +4 more	GPathogenic/Likely pathogenic
Select item 1341338	NM_002834.5(PTPN11):c.127C>G (p.Leu43Val)	PTPN11 (L43V)	Single nucleotide variant (missense variant)	Juvenile myelomonocytic leukemia +4 more	GUncertain significance
Select item 1339747	NM_002834.5(PTPN11):c.329A>G (p.Glu110Gly)	PTPN11 (E109G +1 more)	Single nucleotide variant (missense variant)	Juvenile myelomonocytic leukemia +5 more	GConflicting classifications of pathogenicity
Select item 1337641	NM_002834.5(PTPN11):c.1303G>A (p.Val435Met)	PTPN11 (V434M +2 more)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
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 1311645	NM_002834.5(PTPN11):c.957C>T (p.Asn319=)	PTPN11	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +7 more	GConflicting classifications of pathogenicity
Select item 1194782	NM_002834.5(PTPN11):c.865A>G (p.Arg289Gly)	PTPN11 (R288G +1 more)	Single nucleotide variant (missense variant)	LEOPARD syndrome 1 +6 more	GConflicting classifications of pathogenicity
Select item 1027635	NM_002834.5(PTPN11):c.1131A>C (p.Leu377=)	PTPN11	Single nucleotide variant (synonymous variant)	Juvenile myelomonocytic leukemia +7 more	GLikely benign
Select item 981580	NM_002834.5(PTPN11):c.265_269del (p.Lys89fs)	PTPN11 (K88fs +1 more)	Deletion (frameshift variant)	RASopathy	GPathogenic
Select item 981576	NM_002834.5(PTPN11):c.64A>G (p.Thr22Ala)	PTPN11 (T22A)	Single nucleotide variant (missense variant)	RASopathy +4 more	GUncertain significance
Select item 950704	NM_002834.5(PTPN11):c.222G>A (p.Leu74=)	PTPN11	Single nucleotide variant (synonymous variant)	RASopathy +5 more	GConflicting classifications of pathogenicity
Select item 931758	NM_002834.5(PTPN11):c.1739A>G (p.Tyr580Cys)	PTPN11 (Y584C +2 more)	Single nucleotide variant (missense variant)	LEOPARD syndrome 1 +3 more	GUncertain significance
Select item 883489	NM_002834.5(PTPN11):c.*2629A>G	PTPN11	Single nucleotide variant (3 prime UTR variant)	Metachondromatosis +2 more	GBenign/Likely benign
Select item 883488	NM_002834.5(PTPN11):c.*2608C>T	PTPN11	Single nucleotide variant (3 prime UTR variant)	Metachondromatosis +2 more	GUncertain significance
Select item 883395	NM_002834.5(PTPN11):c.*1038G>A	PTPN11	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome 1 +2 more	GUncertain significance
Select item 883351	NM_002834.5(PTPN11):c.*684G>A	PTPN11	Single nucleotide variant (3 prime UTR variant)	Metachondromatosis +2 more	GUncertain significance
Select item 883350	NM_002834.5(PTPN11):c.*682T>C	PTPN11	Single nucleotide variant (3 prime UTR variant)	Metachondromatosis +2 more	GUncertain significance
Select item 882713	NM_002834.5(PTPN11):c.*2179C>T	PTPN11	Single nucleotide variant (3 prime UTR variant)	Metachondromatosis +2 more	GUncertain significance
Select item 882664	NM_002834.5(PTPN11):c.*1616C>T	PTPN11	Single nucleotide variant (3 prime UTR variant)	Metachondromatosis +2 more	GUncertain significance
Select item 882617	NM_002834.5(PTPN11):c.*802G>A	PTPN11	Single nucleotide variant (3 prime UTR variant)	Metachondromatosis +2 more	GUncertain significance
Select item 882569	NM_002834.5(PTPN11):c.*673G>A	PTPN11	Single nucleotide variant (3 prime UTR variant)	Metachondromatosis +2 more	GUncertain significance
Select item 882568	NM_002834.5(PTPN11):c.*474A>G	PTPN11	Single nucleotide variant (3 prime UTR variant)	Metachondromatosis +2 more	GUncertain significance
Select item 882403	NM_002834.3(PTPN11):c.-291G>A	PTPN11, RPL6	Single nucleotide variant (5 prime UTR variant)	Noonan syndrome 1 +2 more	GUncertain significance
Select item 882350	NM_002834.5(PTPN11):c.*801C>T	PTPN11	Single nucleotide variant (3 prime UTR variant)	LEOPARD syndrome 1 +2 more	GBenign/Likely benign
Select item 882349	NM_002834.5(PTPN11):c.*799G>A	PTPN11	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome 1 +2 more	GUncertain significance
Select item 882209	NM_002834.5(PTPN11):c.-71C>T	PTPN11	Single nucleotide variant (5 prime UTR variant)	Metachondromatosis +2 more	GUncertain significance
Select item 882208	NM_002834.5(PTPN11):c.-77G>A	PTPN11	Single nucleotide variant (5 prime UTR variant)	Metachondromatosis +2 more	GUncertain significance
Select item 882155	NM_002834.3(PTPN11):c.-317C>G	PTPN11, RPL6	Single nucleotide variant (5 prime UTR variant)	Metachondromatosis +2 more	GUncertain significance
Select item 881551	NM_002834.5(PTPN11):c.*2150G>T	PTPN11	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome 1 +2 more	GUncertain significance
Select item 881550	NM_002834.5(PTPN11):c.*2096T>G	PTPN11	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome 1 +2 more	GUncertain significance
Select item 881504	NM_002834.5(PTPN11):c.*1520C>T	PTPN11	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome 1 +2 more	GUncertain significance
Select item 881174	NM_002834.5(PTPN11):c.*3971A>G	PTPN11	Single nucleotide variant (3 prime UTR variant)	Metachondromatosis +2 more	GUncertain significance
Select item 881125	NM_002834.5(PTPN11):c.*2822A>G	PTPN11	Single nucleotide variant (3 prime UTR variant)	Metachondromatosis +2 more	GUncertain significance
Select item 881086	NM_002834.5(PTPN11):c.*2078G>A	PTPN11	Single nucleotide variant (3 prime UTR variant)	LEOPARD syndrome 1 +2 more	GBenign/Likely benign
Select item 881085	NM_002834.5(PTPN11):c.*1830G>A	PTPN11	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome 1 +2 more	GUncertain significance
Select item 881046	NM_002834.5(PTPN11):c.*1419G>A	PTPN11	Single nucleotide variant (3 prime UTR variant)	LEOPARD syndrome 1 +2 more	GUncertain significance
Select item 880986	NM_002834.5(PTPN11):c.*720C>T	PTPN11	Single nucleotide variant (3 prime UTR variant)	LEOPARD syndrome 1 +2 more	GUncertain significance
Select item 880940	NM_002834.5(PTPN11):c.*64C>G	PTPN11	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome 1 +2 more	GUncertain significance
Select item 880817	NM_002834.5(PTPN11):c.-151C>A	PTPN11	Single nucleotide variant (5 prime UTR variant)	Noonan syndrome 1 +2 more	GUncertain significance
Select item 880816	NM_002834.5(PTPN11):c.-161T>A	PTPN11	Single nucleotide variant (5 prime UTR variant)	Noonan syndrome 1 +2 more	GUncertain significance
Select item 880815	NM_002834.4(PTPN11):c.-176G>T	PTPN11	Single nucleotide variant	Metachondromatosis +2 more	GUncertain significance
Select item 852241	NM_002834.5(PTPN11):c.1282G>T (p.Val428Leu)	PTPN11 (V432L +2 more)	Single nucleotide variant (missense variant)	Noonan syndrome 1 +5 more	GPathogenic/Likely pathogenic
Select item 849717	NM_002834.5(PTPN11):c.1715T>C (p.Met572Thr)	PTPN11 (M576T +2 more)	Single nucleotide variant (missense variant)	RASopathy +5 more	GUncertain significance
Select item 829985	NM_002834.5(PTPN11):c.1339del (p.Glu447fs)	PTPN11 (E451fs +2 more)	Deletion (frameshift variant)	Metachondromatosis	GPathogenic
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 802895	NM_002834.5(PTPN11):c.643-61_643-38del	PTPN11	Deletion (intron variant)	Metachondromatosis	GLikely benign
Select item 699634	NM_002834.5(PTPN11):c.616T>C (p.Leu206=)	PTPN11	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +6 more	GLikely benign
Select item 647494	NM_002834.5(PTPN11):c.1041A>G (p.Gln347=)	PTPN11	Single nucleotide variant (synonymous variant)	Noonan syndrome 1 +4 more	GConflicting classifications of pathogenicity
Select item 597106	NM_002834.5(PTPN11):c.1144G>A (p.Val382Ile)	PTPN11 (V382I +1 more)	Single nucleotide variant (missense variant)	Juvenile myelomonocytic leukemia +6 more	GUncertain significance
Select item 591599	NM_002834.5(PTPN11):c.1361C>T (p.Pro454Leu)	PTPN11 (P454L +2 more)	Single nucleotide variant (missense variant)	LEOPARD syndrome 1 +3 more	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 561500	NM_002834.5(PTPN11):c.127C>T (p.Leu43Phe)	PTPN11 (L43F)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GConflicting classifications of pathogenicity
Select item 546460	NM_002834.5(PTPN11):c.683G>T (p.Ser228Ile)	PTPN11 (S228I +1 more)	Single nucleotide variant (missense variant)	Metachondromatosis +6 more	GUncertain significance
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 517561	NM_002834.5(PTPN11):c.519C>G (p.Arg173=)	PTPN11	Single nucleotide variant (synonymous variant)	not specified +6 more	GLikely benign
Select item 515382	NM_002834.5(PTPN11):c.1047C>T (p.Asn349=)	PTPN11	Single nucleotide variant (synonymous variant)	Noonan syndrome 1 +6 more	GLikely benign
Select item 496183	NM_002834.5(PTPN11):c.327T>G (p.Ser109=)	PTPN11	Single nucleotide variant (synonymous variant)	RASopathy +6 more	GLikely benign
Select item 496182	NM_002834.5(PTPN11):c.1379+6A>G	PTPN11	Single nucleotide variant (3 prime UTR variant +1 more)	Metachondromatosis +3 more	GUncertain significance
Select item 488168	NM_002834.5(PTPN11):c.473G>C (p.Gly158Ala)	PTPN11 (G158A +1 more)	Single nucleotide variant (missense variant)	LEOPARD syndrome 1 +2 more	GUncertain significance
Select item 488167	NM_002834.5(PTPN11):c.1599+4C>A	PTPN11	Single nucleotide variant (intron variant)	LEOPARD syndrome 1 +6 more	GConflicting classifications of pathogenicity
Select item 488166	NM_002834.5(PTPN11):c.1579C>T (p.Arg527Cys)	PTPN11 (R527C +2 more)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
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 pathogenicFDA Recognized database
Select item 449117	NM_002834.5(PTPN11):c.1261C>T (p.Arg421Trp)	PTPN11 (R421W +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GUncertain significance
Select item 448922	NM_002834.5(PTPN11):c.643-6dup	PTPN11	Duplication (intron variant)	RASopathy	GLikely benignFDA Recognized database
Select item 436446	NM_002834.5(PTPN11):c.1221A>G (p.Gly407=)	PTPN11	Single nucleotide variant (synonymous variant)	RASopathy	GBenignFDA Recognized database

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