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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Hearing Loss Disease Portal

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Connective Tissue Diseases (D003240)
Parent Node: Craniofacial Abnormalities (D019465)
Parent Node: Heart Defects, Congenital (D006330)
..Starting node ..Noonan Syndrome (D009634)
Child Nodes:
........Kousseff Nichols syndrome (C537504)
........Neurofibromatosis-Noonan syndrome (C537393)
........Noonan like syndrome (C537846) 2
........Noonan Syndrome 2 (C548081)
........Noonan syndrome 3 (C537847)
........Noonan Syndrome 4 (C548082)
........Noonan Syndrome 5 (C548083)
........Noonan Syndrome 6 (C548084)
........NOONAN SYNDROME 7 (OMIM:613706)
........Noonan-Like Syndrome With Loose Anagen Hair (C564342)
Sister Nodes:
..22q11 Deletion Syndrome (D058165) 5
..Aarskog Syndrome (C535331) 1
..Al Gazali Aziz Salem syndrome (C535613)
..Alagille Syndrome (D016738)
..Amastia, Bilateral, With Ureteral Triplication And Dysmorphism (C566295)
..Aortic Coarctation (D001017) 3
..Aortic Valve Disease (C563178) 1
..Aplasia Cutis Congenita, Congenital Heart Defect, And Frontonasal Cysts (C566997)
..Arrhythmogenic Right Ventricular Dysplasia (D019571) 13
..Arterial Occlusive Disease, Progressive, with Hypertension, Heart Defects, Bone Fragility, and Brachysyndactyly (C566529)
..Baetz-Greenwalt syndrome (C537795)
..Barth Syndrome (D056889) 2
..BEAULIEU-BOYCOTT-INNES SYNDROME (OMIM:613680)
..Beemer Ertbruggen syndrome (C537668)
..Bixler Christian Gorlin syndrome (C537632)
..Blepharophimosis syndrome Ohdo type (C536232)
..Bonneau Syndrome (C564875)
..Burn-Mckeown syndrome (C537411)
..Cardiac Malformation, Cleft Lip-Palate, Microcephaly and Digital Anomalies (C563414)
..Cardiac Valvular Defect, Developmental (C565882)
..Cardiac valvular dysplasia, X-linked (C535576)
..Cardioauditory syndrome of Sanchez Cascos (C535577)
..Cardiocranial syndrome (C535578)
..Cardiofaciocutaneous syndrome (C535579)
..Chromosome 1q21.1 Duplication Syndrome (C567290)
..Chromosome 6pter-P24 Deletion Syndrome (C567239)
..Cleft Palate, Cardiac Defect, Genital Anomalies, and Ectrodactyly (C563936)
..Congenital Heart Defects, X-Linked (C567444)
..Conotruncal cardiac defects (C535464) 1
..Cor Triatriatum (D003310)
..Coronary Vessel Anomalies (D003330) 3
..Corpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence (C563127)
..Cranioacrofacial Syndrome (C565147)
..Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation (C564271)
..Craniofaciofrontodigital Syndrome (C567298)
..Crisscross Heart (D003420)
..Deafness, Congenital Heart Defects, and Posterior Embryotoxon (C566604)
..Dextrocardia (D003914) 10
..Distichiasis with Congenital Anomalies of the Heart and Peripheral Vasculature (C565092)
..Ductus Arteriosus, Patent (D004374) 6
..Ebstein Anomaly (D004437)
..Ectopia Cordis (D054083)
..Ectrodactyly cardiopathy dysmorphism (C536187)
..Ectrodactyly of Lower Limbs, Congenital Heart Defect, and Micrognathia (C563344)
..Eisenmenger Complex (D004541)
..Ellis Yale Winter syndrome (C536205)
..Emanuel syndrome (C535733)
..Faciocardiomelic Dysplasia, Lethal (C565578)
..Faciocardiomelic Syndrome (C567176)
..Faciocardiorenal syndrome (C536388)
..Familial anomalous origin of right pulmonary artery (C535681)
..Fragile Site 16p12 (C565001)
..Frontoocular Syndrome (C565340)
..Gay Feinmesser Cohen syndrome (C537676)
..Genito palato cardiac syndrome (C537683)
..Growth and Developmental Retardation, Ocular Ptosis, Cardiac Defect, and Anal Atresia (C565755)
..Heart defects limb shortening (C535850)
..Heart Septal Defects (D006343) 47
..Heart-hand syndrome, Slovenian type (C535852)
..Heart-hand syndrome, Spanish type (C535853)
..Hecht Scott syndrome (C535856)
..Heterotaxy Syndrome (D059446) 7
..Hirschsprung Disease with Heart Defects, Laryngeal Anomalies, and Preaxial Polydactyly (C565817)
..Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction (C563939)
..Hittner Hirsch Kreh syndrome (C538323)
..Ho Kaufman Mcalister syndrome (C538325)
..Holt-Oram syndrome (C535326)
..Holzgreve Wagner Rehder syndrome (C535327)
..Hydrolethalus syndrome (C536079)
..Hypoplastic Left Heart Syndrome (D018636)
..Isolated Noncompaction of the Ventricular Myocardium (D056830) 5
..Jarcho-Levin syndrome (C537565) 1
..Kasznica Carlson Coppedge syndrome (C537011)
..Kleefstra Syndrome (C563043)
..LEOPARD Syndrome (D044542) 2
..Levocardia (D007979)
..Long QT Syndrome (D008133) 20
..Lowry Maclean syndrome (C537037)
..Malpuech facial clefting syndrome (C535704)
..Marcus Gunn phenomenon (C535908)
..Marfan Syndrome (D008382) 9
..McDonough syndrome (C538158)
..McKusick Kaufman syndrome (C538159)
..McPherson Clemens syndrome (C538160)
..Meacham Syndrome (C563821)
..Mehta Lewis Patton syndrome (C536147)
..Mexican Cardiomelic Dysplasia (C563087)
..Microcephaly seizures mental retardation heart disorders (C537544)
..Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, and Hyposegmented Lungs (C563341)
..Noncompaction of Left Ventricular Myocardium with Congenital Heart Defects (C564690)
..Noonan Syndrome (D009634) 12
..Orstavik Lindemann Solberg syndrome (C537137)
..Pancreatic Hypoplasia, Congenital, with Diabetes Mellitus and Congenital Heart Disease (C564011)
..Pilotto syndrome (C537400)
..Powell Chandra Saal syndrome (C538357)
..Pseudodiastrophic dysplasia (C535826)
..Pulmonary Atresia with Intact Ventricular Septum (C562832)
..Right ventricle hypoplasia (C535682)
..Rommen Mueller Sybert syndrome (C535871)
..Saal Bulas syndrome (C537193)
..Sacral meningocele conotruncal heart defects (C537223)
..Scimitar Anomaly, Multiple Cardiac Malformations, and Craniofacial and Central Nervous System Abnormalities (C564262)
..Short QT Syndrome 1 (C566506)
..Short QT Syndrome 2 (C566505)
..Short QT Syndrome 3 (C566504)
..Simpson-Golabi-Behmel syndrome (C537340)
..Sonoda syndrome (C536680)
..Steinfeld Syndrome (C566655)
..Stratton-Parker Syndrome (C566105)
..Subaortic Stenosis, Membranous (C564793)
..Tabatznik syndrome (C536784)
..Tamari Goodman syndrome (C536896)
..TARP syndrome (C536942)
..Ter Haar syndrome (C537274)
..Tetralogy of Fallot (D013771) 4
..Thomas syndrome (C536514)
..Transposition of Great Vessels (D014188) 5
..Tricuspid Atresia (D018785) 1
..Trilogy of Fallot (D014286)
..Turner Syndrome (D014424) 2
..Uhl anomaly (C536932)
..VACTERL association (C536495)
..VACTERL association with hydrocephaly, X-linked (C536520)
..VACTERL hydrocephaly (C536521)
..VATER association (C536534)
..Vater Association With Hydrocephalus (C564752)
..Vater-Like Defects with Pulmonary Hypertension, Laryngeal Webs, and Growth Deficiency (C564244)
..Ventricular extrasystoles perodactyly Robin sequence (C536537)
..Verloove-Vanhorick Brubakk syndrome (C536541)
..Wolff-Parkinson-White Syndrome (D014927)
..Young Simpson syndrome (C536717)
..Zunich neuroectodermal syndrome (C536729)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

8116

Name:

Noonan Syndrome

Definition:

A genetically heterogeneous, multifaceted disorder characterized by short stature, webbed neck, ptosis, skeletal malformations, hypertelorism, hormonal imbalance, CRYPTORCHIDISM, multiple cardiac abnormalities (most commonly including PULMONARY VALVE STENOSIS), and some degree of INTELLECTUAL DISABILITY. The phenotype bears similarities to that of TURNER SYNDROME that occurs only in females and has its basis in a 45, X karyotype abnormality. Noonan syndrome occurs in both males and females with a normal karyotype (46,XX and 46,XY). Mutations in a several genes (PTPN11, KRAS, SOS1, NF1 and RAF1) have been associated the the NS phenotype. Mutations in PTPN11 are the most common. LEOPARD SYNDROME, a disorder that has clinical features overlapping those of Noonan Syndrome, is also due to mutations in PTPN11. In addition, there is overlap with the syndrome called neurofibromatosis-Noonan syndrome due to mutations in NF1.

Alternative IDs:

OMIM:163950

ParentIDs:

MESH:D003240|MESH:D006330|MESH:D019465

TreeNumbers:

C05.660.207.690 |C14.240.400.787 |C14.280.400.787 |C16.131.240.400.784 |C16.131.621.207.690 |C17.300.690

Synonyms:

Slim Mappings:

Cardiovascular disease|Congenital abnormality|Connective tissue disease|Musculoskeletal disease

Reference:

MedGen: D009634
MeSH: D009634
OMIM: 163950;

Genes: PTPN11;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0001892	Abnormal bleeding
3	HP:0000925	Abnormality of the vertebral column
4	HP:0004859	Amegakaryocytic thrombocytopenia
5	HP:0001631	Atrial septal defect
6	HP:0001156	Brachydactyly
7	HP:0030084	Clinodactyly
8	HP:0001680	Coarctation of aorta
9	HP:0000028	Cryptorchidism
10	HP:0002967	Cubitus valgus
11	HP:0000476	Cystic hygroma
12	HP:0000689	Dental malocclusion
13	HP:0000494	Downslanted palpebral fissures
14	HP:0000286	Epicanthus
15	HP:0001531	Failure to thrive in infancy
16	HP:0001425	Heterogeneous
17	HP:0000218	High palate
18	HP:0002705	High, narrow palate
19	HP:0000316	Hypertelorism
20	HP:0001639	Hypertrophic cardiomyopathy
21	HP:0000135	Hypogonadism	HP:0040283
22	HP:0001249	Intellectual disability	HP:0040284
23	HP:0002751	Kyphoscoliosis
24	HP:0002162	Low posterior hairline
25	HP:0000368	Low-set, posteriorly rotated ears
26	HP:0001004	Lymphedema
27	HP:0003251	Male infertility
28	HP:0000347	Micrognathia
29	HP:0000545	Myopia
30	HP:0002664	Neoplasm
31	HP:0100697	Neurofibrosarcoma
32	HP:0001643	Patent ductus arteriosus
33	HP:0000915	Pectus excavatum of inferior sternum
34	HP:0008897	Postnatal growth retardation
35	HP:0000508	Ptosis
36	HP:0001642	Pulmonic stenosis
37	HP:0009466	Radial deviation of finger
38	HP:0004841	Reduced factor XII activity
39	HP:0008357	Reduced factor XIII activity
40	HP:0000407	Sensorineural hearing impairment
41	HP:0000914	Shield chest
42	HP:0000470	Short neck
43	HP:0004322	Short stature
44	HP:0000917	Superior pectus carinatum
45	HP:0100769	Synovitis
46	HP:0000325	Triangular face
47	HP:0001629	Ventricular septal defect
48	HP:0000465	Webbed neck

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_004333.4(BRAF):c.1789C>G (p.Leu597Val)	673	BRAF	Pathogenic	121913369	RCV000208539; RCV000015003; RCV000030948; RCV000033333;	N	MedGen:C0007131,SNOMED CT:254637007; MedGen:C0041409,OMIM:163950; MedGen:C3150970,OMIM:613706; MedGen:CN166718	7	140453146	140453146	NM_004333.4:c.1789C>G	NP_004324.2:p.Leu597Val	NC_000007.13:g.140453146G>C	OMIM Allelic Variant:164757.0008,OMIM Allelic Variant:164757.0026	C0007131 Non-small cell lung cancer; C0041409 163950 Noonan syndrome 1; C3150970 613706 Noonan syndrome 7; CN166718 Rasopathy
NM_004333.4(BRAF):c.1593G>C (p.Trp531Cys)	673	BRAF	Pathogenic	606231228	RCV000208560; RCV000022682; RCV000191066;	N	MedGen:C0041409,OMIM:163950; MedGen:C3150970,OMIM:613706; MedGen:CN166718	7	140476813	140476813	NM_004333.4:c.1593G>C	NP_004324.2:p.Trp531Cys	NC_000007.13:g.140476813C>G	OMIM Allelic Variant:164757.0025	C0041409 163950 Noonan syndrome 1; C3150970 613706 Noonan syndrome 7; CN166718 Rasopathy
NM_004333.4(BRAF):c.722C>T (p.Thr241Met)	673	BRAF	Pathogenic	387906660	RCV000208540; RCV000022678; RCV000211753; RCV000033281;	N	MedGen:C0028326, Orphanet:ORPHA648,SNOMED CT:205824006; MedGen:C0041409,OMIM:163950; MedGen:C3150970,OMIM:613706; MedGen:CN221809	7	140501350	140501350	NM_004333.4:c.722C>T	NP_004324.2:p.Thr241Met	NC_000007.13:g.140501350G>A,NC_000007.13:g.140501350G>C,NC_000007.13:g.140501350	OMIM Allelic Variant:164757.0022	C0028326 Noonan syndrome; C0041409 163950 Noonan syndrome 1; C3150970 613706 Noonan syndrome 7; CN221809 not provided
NM_004333.4(BRAF):c.722C>G (p.Thr241Arg)	673	BRAF	Pathogenic	387906660	RCV000208548; RCV000022679; RCV000033280;	N	MedGen:C0041409,OMIM:163950; MedGen:C3150970,OMIM:613706; MedGen:CN166718	7	140501350	140501350	NM_004333.4:c.722C>G	NP_004324.2:p.Thr241Arg	NC_000007.13:g.140501350G>A,NC_000007.13:g.140501350G>C,NC_000007.13:g.140501350	OMIM Allelic Variant:164757.0023	C0041409 163950 Noonan syndrome 1; C3150970 613706 Noonan syndrome 7; CN166718 Rasopathy
NM_004985.4(KRAS):c.347A>G (p.Asn116Ser)	3845	KRAS	not provided	202247812	RCV000144422;	N	MedGen:C0041409,OMIM:163950	12	25378651	25378651	NM_004985.4:c.347A>G	NP_004976.2:p.Asn116Ser	NC_000012.11:g.25378651T>C	-	C0041409 163950 Noonan syndrome 1
NM_002524.4(NRAS):c.179G>A (p.Gly60Glu)	4893	NRAS	Pathogenic	267606920	RCV000208552; RCV000014917; RCV000158982;	N	MedGen:C0041409,OMIM:163950; MedGen:C2750732,OMIM:613224; MedGen:CN221809	1	115256532	115256532	NM_002524.4:c.179G>A	NP_002515.1:p.Gly60Glu	NC_000001.10:g.115256532C>T	OMIM Allelic Variant:164790.0005	C0041409 163950 Noonan syndrome 1; C2750732 613224 Noonan syndrome 6; CN221809 not provided
NM_002524.4(NRAS):c.149C>T (p.Thr50Ile)	4893	NRAS	Pathogenic	267606921	RCV000208537; RCV000014916; RCV000211835;	N	MedGen:C0028326, Orphanet:ORPHA648,SNOMED CT:205824006; MedGen:C0041409,OMIM:163950; MedGen:C2750732,OMIM:613224	1	115256562	115256562	NM_002524.4:c.149C>T	NP_002515.1:p.Thr50Ile	NC_000001.10:g.115256562G>A	OMIM Allelic Variant:164790.0004	C0028326 Noonan syndrome; C0041409 163950 Noonan syndrome 1; C2750732 613224 Noonan syndrome 6
NM_002524.4(NRAS):c.101C>T (p.Pro34Leu)	4893	NRAS	Pathogenic	397514553	RCV000208568; RCV000032848;	N	MedGen:C0041409,OMIM:163950; MedGen:C0334082,OMIM:162900,ORPHA:35125,SNOMED CT:25201003	1	115258681	115258681	NM_002524.4:c.101C>T	NP_002515.1:p.Pro34Leu	NC_000001.10:g.115258681G>A	OMIM Allelic Variant:164790.0006	C0334082 162900 Epidermal nevus; C1838979 252010 Mitochondrial complex I deficiency; C0041409 163950 Noonan syndrome 1
NM_002524.4(NRAS):c.71T>A (p.Ile24Asn)	4893	NRAS	Pathogenic	869025573	RCV000208553;	N	MedGen:C0041409,OMIM:163950	1	115258711	115258711	NM_002524.4:c.71T>A	NP_002515.1:p.Ile24Asn	NC_000001.10:g.115258711A>T	-	C0041409 163950 Noonan syndrome 1
NM_002834.3(PTPN11):c.5C>T (p.Thr2Ile)	5781	PTPN11	Pathogenic	267606990	RCV000014277; RCV000211847; RCV000033445;	N	MedGen:C0028326, Orphanet:ORPHA648,SNOMED CT:205824006; MedGen:C0041409,OMIM:163950; MedGen:CN221809	12	112856920	112856920	NM_002834.3:c.5C>T	NP_002825.3:p.Thr2Ile	NC_000012.11:g.112856920C>T	OMIM Allelic Variant:176876.0027	C0028326 Noonan syndrome; C0041409 163950 Noonan syndrome 1; CN221809 not provided
NM_002834.3(PTPN11):c.174C>G (p.Asn58Lys)	5781	PTPN11	Likely pathogenic;Pathogenic	397507506	RCV000037630; RCV000211846; RCV000033457;	N	MedGen:C0028326, Orphanet:ORPHA648,SNOMED CT:205824006; MedGen:C0041409,OMIM:163950; MedGen:CN166718	12	112888158	112888158	NM_002834.3:c.174C>G	NP_002825.3:p.Asn58Lys	NC_000012.11:g.112888158C>A,NC_000012.11:g.112888158C>G	-	C0028326 Noonan syndrome; C0041409 163950 Noonan syndrome 1; CN166718 Rasopathy
NM_002834.3(PTPN11):c.179_181delGTG (p.Gly60del)	5781	PTPN11	Pathogenic	80338836	RCV000014274;	N	MedGen:C0041409,OMIM:163950	12	112888163	112888165	NM_002834.3:c.179_181delGTG	NP_002825.3:p.Gly60del	NC_000012.11:g.112888163_112888165delGTG	OMIM Allelic Variant:176876.0024	C0041409 163950 Noonan syndrome 1
NM_002834.3(PTPN11):c.181_183delGAT (p.Asp61del)	5781	PTPN11	Pathogenic	869025574	RCV000208567;	N	MedGen:C0041409,OMIM:163950	12	112888165	112888167	NM_002834.3:c.181_183delGAT	NP_002825.3:p.Asp61del	NC_000012.11:g.112888165_112888167delGAT	-	C0041409 163950 Noonan syndrome 1
NM_002834.3(PTPN11):c.182A>G (p.Asp61Gly)	5781	PTPN11	Pathogenic	121918461	RCV000014258; RCV000156984; RCV000033464; RCV000077856;	N	MedGen:C0028326, Orphanet:ORPHA648,SNOMED CT:205824006; MedGen:C0041409,OMIM:163950; MedGen:CN166718; MedGen:CN221809	12	112888166	112888166	NM_002834.3:c.182A>G	NP_002825.3:p.Asp61Gly	NC_000012.11:g.112888166A>C,NC_000012.11:g.112888166A>G,NC_000012.11:g.112888166	HGMD:CM013415,OMIM Allelic Variant:176876.0010	C0028326 Noonan syndrome; C0041409 163950 Noonan syndrome 1; CN221809 not provided; CN166718 Rasopathy
NM_002834.3(PTPN11):c.184T>G (p.Tyr62Asp)	5781	PTPN11	Pathogenic	121918460	RCV000014257; RCV000156993; RCV000033466; RCV000153794;	N	MedGen:C0028326, Orphanet:ORPHA648,SNOMED CT:205824006; MedGen:C0041409,OMIM:163950; MedGen:CN166718; MedGen:CN221809	12	112888168	112888168	NM_002834.3:c.184T>G	NP_002825.3:p.Tyr62Asp	NC_000012.11:g.112888168T>A,NC_000012.11:g.112888168T>G	HGMD:CM021128,OMIM Allelic Variant:176876.0009	C0028326 Noonan syndrome; C0041409 163950 Noonan syndrome 1; CN221809 not provided; CN166718 Rasopathy
NM_002834.3(PTPN11):c.188A>G (p.Tyr63Cys)	5781	PTPN11	Pathogenic	121918459	RCV000014261; RCV000157000; RCV000033468; RCV000077857;	N	MedGen:C0028326, Orphanet:ORPHA648,SNOMED CT:205824006; MedGen:C0041409,OMIM:163950; MedGen:CN166718; MedGen:CN221809	12	112888172	112888172	NM_002834.3:c.188A>G	NP_002825.3:p.Tyr63Cys	NC_000012.11:g.112888172A>G	HGMD:CM013416,OMIM Allelic Variant:176876.0008	C0028326 Noonan syndrome; C0041409 163950 Noonan syndrome 1; CN221809 not provided; CN166718 Rasopathy
NM_002834.3(PTPN11):c.214G>T (p.Ala72Ser)	5781	PTPN11	Pathogenic	121918453	RCV000014252; RCV000157001; RCV000033471; RCV000212890;	N	MedGen:C0028326, Orphanet:ORPHA648,SNOMED CT:205824006; MedGen:C0041409,OMIM:163950; MedGen:CN166718; MedGen:CN221809	12	112888198	112888198	NM_002834.3:c.214G>T	NP_002825.3:p.Ala72Ser	NC_000012.11:g.112888198G>A,NC_000012.11:g.112888198G>C,NC_000012.11:g.112888198	OMIM Allelic Variant:176876.0001	C0028326 Noonan syndrome; C0041409 163950 Noonan syndrome 1; CN221809 not provided; CN166718 Rasopathy
NM_002834.3(PTPN11):c.215C>G (p.Ala72Gly)	5781	PTPN11	Pathogenic	121918454	RCV000014253; RCV000157006; RCV000157679;	N	MedGen:C0028326, Orphanet:ORPHA648,SNOMED CT:205824006; MedGen:C0041409,OMIM:163950; MedGen:CN221809	12	112888199	112888199	NM_002834.3:c.215C>G	NP_002825.3:p.Ala72Gly	NC_000012.11:g.112888199C>G,NC_000012.11:g.112888199C>T	OMIM Allelic Variant:176876.0002	C0028326 Noonan syndrome; C0041409 163950 Noonan syndrome 1; CN221809 not provided
NM_002834.3(PTPN11):c.218C>T (p.Thr73Ile)	5781	PTPN11	Pathogenic	121918462	RCV000014262; RCV000156985; RCV000033475; RCV000212891;	N	MedGen:C0028326, Orphanet:ORPHA648,SNOMED CT:205824006; MedGen:C0041409,OMIM:163950; MedGen:CN166718; MedGen:CN221809	12	112888202	112888202	NM_002834.3:c.218C>T	NP_002825.3:p.Thr73Ile	NC_000012.11:g.112888202C>T	OMIM Allelic Variant:176876.0011,OMIM Allelic Variant:176876.0013	C0028326 Noonan syndrome; C0041409 163950 Noonan syndrome 1; CN221809 not provided; CN166718 Rasopathy
NM_002834.3(PTPN11):c.236A>G (p.Gln79Arg)	5781	PTPN11	Pathogenic	121918466	RCV000014268; RCV000037641; RCV000033480; RCV000157680;	N	MedGen:C0028326, Orphanet:ORPHA648,SNOMED CT:205824006; MedGen:C0041409,OMIM:163950; MedGen:CN166718; MedGen:CN221809	12	112888220	112888220	NM_002834.3:c.236A>G	NP_002825.3:p.Gln79Arg	NC_000012.11:g.112888220A>G	OMIM Allelic Variant:176876.0018	C0028326 Noonan syndrome; C0041409 163950 Noonan syndrome 1; CN221809 not provided; CN166718 Rasopathy
NM_002834.3(PTPN11):c.785T>G (p.Leu262Arg)	5781	PTPN11	Pathogenic	397507526	RCV000106324; RCV000033500;	N	MedGen:C0041409,OMIM:163950; MedGen:CN166718	12	112910776	112910776	NM_002834.3:c.785T>G	NP_002825.3:p.Leu262Arg	NC_000012.11:g.112910776T>G	-	C0041409 163950 Noonan syndrome 1; CN166718 Rasopathy
NM_002834.3(PTPN11):c.844A>G (p.Ile282Val)	5781	PTPN11	Pathogenic	397507529	RCV000154403; RCV000033505; RCV000077860;	N	MedGen:C0041409,OMIM:163950; MedGen:CN166718; MedGen:CN221809	12	112910835	112910835	NM_002834.3:c.844A>G	NP_002825.3:p.Ile282Val	NC_000012.11:g.112910835A>G	HGMD:CM013421	C0041409 163950 Noonan syndrome 1; CN221809 not provided; CN166718 Rasopathy
NM_002834.3(PTPN11):c.854T>C (p.Phe285Ser)	5781	PTPN11	Pathogenic	121918463	RCV000014263; RCV000037663; RCV000077862; RCV000190417;	N	MedGen:C0028326, Orphanet:ORPHA648,SNOMED CT:205824006; MedGen:C0041409,OMIM:163950; MedGen:CN221809; MedGen:CN232350	12	112915455	112915455	NM_002834.3:c.854T>C	NP_002825.3:p.Phe285Ser	NC_000012.11:g.112915455T>A,NC_000012.11:g.112915455T>C,NC_000012.11:g.112915455	HGMD:CM021134,OMIM Allelic Variant:176876.0012	CN232350 Early T cell progenitor acute lymphoblastic leukemia; C0028326 Noonan syndrome; C0041409 163950 Noonan syndrome 1; CN221809 not provided
NM_002834.3(PTPN11):c.922A>G (p.Asn308Asp)	5781	PTPN11	Pathogenic	28933386	RCV000014254; RCV000156977; RCV000033516; RCV000077863;	N	MedGen:C0028326, Orphanet:ORPHA648,SNOMED CT:205824006; MedGen:C0041409,OMIM:163950; MedGen:CN166718; MedGen:CN221809	12	112915523	112915523	NM_002834.3:c.922A>G	NP_002825.3:p.Asn308Asp	NC_000012.11:g.112915523A>G	HGMD:CM013422,OMIM Allelic Variant:176876.0003	C0028326 Noonan syndrome; C0041409 163950 Noonan syndrome 1; CN221809 not provided; CN166718 Rasopathy
NM_002834.3(PTPN11):c.923A>G (p.Asn308Ser)	5781	PTPN11	Pathogenic	121918455	RCV000014255; RCV000037669; RCV000033518; RCV000157682;	N	MedGen:C0028326, Orphanet:ORPHA648,SNOMED CT:205824006; MedGen:C0041409,OMIM:163950; MedGen:CN166718; MedGen:CN221809	12	112915524	112915524	NM_002834.3:c.923A>G	NP_002825.3:p.Asn308Ser	NC_000012.11:g.112915524A>C,NC_000012.11:g.112915524A>G	OMIM Allelic Variant:176876.0004	C0028326 Noonan syndrome; C0041409 163950 Noonan syndrome 1; CN221809 not provided; CN166718 Rasopathy
NM_002834.3(PTPN11):c.1174G>A (p.Ala392Thr)	5781	PTPN11	Likely pathogenic	774356443	RCV000209886;	N	MedGen:C0041409,OMIM:163950	12	112919959	112919959	NM_002834.3:c.1174G>A	NP_002825.3:p.Ala392Thr	NC_000012.11:g.112919959G>A	-	C0041409 163950 Noonan syndrome 1
NM_002834.3(PTPN11):c.1232C>T (p.Thr411Met)	5781	PTPN11	Pathogenic	121918467	RCV000014269;	N	MedGen:C0041409,OMIM:163950	12	112924286	112924286	NM_002834.3:c.1232C>T	NP_002825.3:p.Thr411Met	NC_000012.11:g.112924286C>T	OMIM Allelic Variant:176876.0019	C0041409 163950 Noonan syndrome 1
NM_002834.3(PTPN11):c.1403C>T (p.Thr468Met)	5781	PTPN11	Likely pathogenic;Pathogenic	121918457	RCV000106323; RCV000208002; RCV000055884; RCV000157014; RCV000033533; RCV000077851;	N	MedGen:C0028326, Orphanet:ORPHA648,SNOMED CT:205824006; MedGen:C0041409,OMIM:163950; MedGen:C0175704, Orphanet:ORPHA500; MedGen:CN074218,OMIM:151100; MedGen:CN166718; MedGen:CN221809	12	112926270	112926270	NM_002834.3:c.1403C>T	NP_002825.3:p.Thr468Met	NC_000012.11:g.112926270C>T	HGMD:CM021672,OMIM Allelic Variant:176876.0006	CN074218 151100 LEOPARD syndrome 1; C0028326 Noonan syndrome; C0041409 163950 Noonan syndrome 1; C0175704 Noonan syndrome with multiple lentigines; CN221809 not provided; CN166718 Rasopathy
NM_002834.3(PTPN11):c.1504T>A (p.Ser502Thr)	5781	PTPN11	Pathogenic	121918458	RCV000014260; RCV000156995; RCV000033543; RCV000212897;	N	MedGen:C0028326, Orphanet:ORPHA648,SNOMED CT:205824006; MedGen:C0041409,OMIM:163950; MedGen:CN166718; MedGen:CN221809	12	112926884	112926884	NM_002834.3:c.1504T>A	NP_002825.3:p.Ser502Thr	NC_000012.11:g.112926884T>A,NC_000012.11:g.112926884T>G	OMIM Allelic Variant:176876.0007	C0028326 Noonan syndrome; C0041409 163950 Noonan syndrome 1; CN221809 not provided; CN166718 Rasopathy
NM_002834.3(PTPN11):c.1529A>G (p.Gln510Arg)	5781	PTPN11	Pathogenic	121918470	RCV000014273;	N	MedGen:C0041409,OMIM:163950	12	112926909	112926909	NM_002834.3:c.1529A>G	NP_002825.3:p.Gln510Arg	NC_000012.11:g.112926909A>C,NC_000012.11:g.112926909A>G	OMIM Allelic Variant:176876.0023	C0041409 163950 Noonan syndrome 1