Noonan syndrome

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 147
OrphanetNr: 648
OMIM Id: 163950
605275
609942
610733
611553
613224
613706
615355
ICD-10: Q87.1
UMLs: C0028326
MeSH: D009634
MedDRA: 10029748
Snomed: 205684007
205824006

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
17222357 [IBIS]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit
 -Rare genetic disease
Malposition of external canthus
 -Rare eye disease
 -Rare genetic disease
Multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit
 -Rare developmental defect during embryogenesis
Non-hypogonadotropic hypogonadism
 -Rare endocrine disease
 -Rare genetic disease
Noonan syndrome and Noonan-related syndrome
 -Rare cardiac disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Polymalformative genetic syndrome with increased risk of developing cancer
 -Rare genetic disease
 -Rare oncologic disease
Ptosis
 -Rare eye disease
 -Rare genetic disease
Syndromic developmental defect of the eye
 -Rare developmental defect during embryogenesis
 -Rare eye disease
 -Rare genetic disease
Syndromic lymphedema
 -Rare circulatory system disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare skin disease
Syndromic renal or urinary tract malformation
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare renal disease

Comment:

Noonan syndrome belongs to the group of RASopathies. It is a heterogeneous developmental disorder caused by activating mutations in genes involved in the RAS-MAPK signaling pathway, which is known to play a major role in lymphangiogenesis. It is clinically characterized by short stature, congenital heart defect, unusual pectus deformity and typical facial features (PMID:26467218). Mutations in the PTPN11 gene are found in about 50% of the patients with definite Noonan syndrome (PMID:17222357).

Symptom Information: Sort by abundance 

1
(HPO:0002019) Constipation Frequent [IBIS] 51% (n=35) 23165751 IBIS 194 / 7739
2
(HPO:0011968) Feeding difficulties Frequent [IBIS] 17222357 IBIS 240 / 7739
3
(HPO:0001892) Abnormal bleeding 26467218 IBIS 85 / 7739
4
(HPO:0003010) Prolonged bleeding time Frequent [Orphanet] Frequent [IBIS] 17222357 IBIS 88 / 7739
5
(HPO:0000978) Bruising susceptibility Frequent [IBIS] 63% (n=35) 23165751 IBIS 123 / 7739
6
(HPO:0000316) Hypertelorism Very frequent [Orphanet] 26467218 IBIS 644 / 7739
7
(HPO:0000520) Proptosis Very frequent [Orphanet] 21464791 IBIS 192 / 7739
8
(HPO:0004328) Abnormality of the anterior segment of the globe Frequent [IBIS] 17222357 IBIS 1 / 7739
9
(HPO:0000639) Nystagmus Occasional [IBIS] Occasional [Orphanet] 17222357 IBIS 555 / 7739
10
(HPO:0000486) Strabismus Frequent [IBIS] Frequent [Orphanet] 37% (n=35) 23165751 IBIS 576 / 7739
11
(HPO:0000539) Abnormality of refraction Frequent [IBIS] 83% (n=35) 23165751 IBIS 6 / 7739
12
(HPO:0000545) Myopia 21815719 IBIS 286 / 7739
13
(HPO:0000646) Amblyopia Frequent [IBIS] 17222357 IBIS 42 / 7739
14
(HPO:0000508) Ptosis Frequent [IBIS] Very frequent [Orphanet] 69% (n=35) 23165751 IBIS 459 / 7739
15
(HPO:0001488) Bilateral ptosis 17222357 IBIS 42 / 7739
16
(HPO:0007687) Unilateral ptosis 17222357 IBIS 4 / 7739
17
(HPO:0006521) Pulmonary lymphangiectasia 17222357 IBIS 6 / 7739
18
(HPO:0002202) Pleural effusion 17222357 IBIS 22 / 7739
19
(HPO:0010310) Chylothorax 17222357 IBIS 6 / 7739
20
(HPO:0004322) Short stature Very frequent [Orphanet] 26467218 IBIS 1232 / 7739
21
(HPO:0004325) Decreased body weight Very frequent [Orphanet] 26467218 IBIS 492 / 7739
22
(HPO:0001508) Failure to thrive Frequent [IBIS] 17222357 IBIS 454 / 7739
23
(HPO:0001531) Failure to thrive in infancy 26467218 IBIS 26 / 7739
24
(HPO:0030680) Abnormality of cardiovascular system morphology Very frequent [Orphanet] 26467218 IBIS 355 / 7739
25
(HPO:0001631) Atria septal defect Occasional [IBIS] 10% (n=118) 8409059 IBIS 274 / 7739
26
(HPO:0001629) Ventricular septal defect Occasional [IBIS] 12% (n=293) 24534818 IBIS 316 / 7739
27
(HPO:0001633) Abnormality of the mitral valve Frequent [IBIS] 17222357 IBIS 69 / 7739
28
(HPO:0001653) Mitral regurgitation 24068150 IBIS 64 / 7739
29
(HPO:0001634) Mitral valve prolapse Rare [IBIS] 6% (n=293) 24534818 IBIS 69 / 7739
30
(HPO:0011994) Abnormality of the atrial septum 17222357 IBIS 1 / 7739
31
(HPO:0006695) Atrioventricular canal defect Frequent [IBIS] 17222357 IBIS 27 / 7739
32
(HPO:0001641) Abnormality of the pulmonary valve Very frequent [Orphanet] 24220280 IBIS 27 / 7739
33
(HPO:0001650) Aortic valve stenosis Rare [IBIS] 2% (n=293) 24534818 IBIS 49 / 7739
34
(HPO:0001639) Hypertrophic cardiomyopathy Occasional [IBIS] 16% (n=293) 24534818 IBIS 137 / 7739
35
(HPO:0001680) Coarctation of aorta Rare [IBIS] 2% (n=293) 24534818 IBIS 57 / 7739
36
(HPO:0001643) Patent ductus arteriosus Occasional [IBIS] 9% (n=293) 24534818 IBIS 228 / 7739
37
(HPO:0004415) Pulmonary artery stenosis 20301303 IBIS 25 / 7739
38
(HPO:0001642) Pulmonic stenosis Frequent [IBIS] 57% (n=293) 24534818 IBIS 89 / 7739
39
(HPO:0001636) Tetralogy of Fallot Rare [IBIS] 2% (n=293) 24534818 IBIS 104 / 7739
40
(HPO:0006677) Prolonged QRS complex Frequent [IBIS] 17222357 IBIS 16 / 7739
41
(HPO:0011675) Arrhythmia Frequent [Orphanet] Occasional [IBIS] 29% (n=35) 23165751 IBIS 226 / 7739
42
(HPO:0001928) Abnormality of coagulation Frequent [Orphanet] Frequent [IBIS] 17222357 IBIS 44 / 7739
43
(HPO:0003125) Reduced factor VIII activity 17222357 IBIS 13 / 7739
44
(HPO:0001929) Reduced factor XI activity 17222357 IBIS 7 / 7739
45
(HPO:0004841) Reduced factor XII activity 17222357 IBIS 4 / 7739
46
(HPO:0002058) Myopathic facies 17222357 IBIS 26 / 7739
47
(HPO:0001004) Lymphedema Frequent [IBIS] Occasional [Orphanet] 49% (n=35) 23165751 IBIS 62 / 7739
48
(HPO:0002488) Acute leukemia 17222357 IBIS 29 / 7739
49
(HPO:0006721) Acute lymphoblastic leukemia 26855057 IBIS 7 / 7739
50
(HPO:0005547) Myeloproliferative disorder Rare [IBIS] 17222357 IBIS 7 / 7739
51
(HPO:0001252) Muscular hypotonia Very frequent [Orphanet] 15804304 IBIS 990 / 7739
52
(HPO:0001324) Muscle weakness Very frequent [Orphanet] 22907230 IBIS 859 / 7739
53
(HPO:0001249) Intellectual disability 25% [HPO:probinson] 26467218 IBIS 1089 / 7739
54
(HPO:0002167) Neurological speech impairment Very frequent [Orphanet] 20301303 IBIS 308 / 7739
55
(HPO:0002015) Dysphagia Frequent [Orphanet] 10373129 IBIS 301 / 7739
56
(HPO:0001561) Polyhydramnios 17222357 IBIS 191 / 7739
57
(HPO:0011297) Abnormality of digit Occasional [IBIS] 17222357 IBIS 4 / 7739
58
(HPO:0001212) Prominent fingertip pads 17222357 IBIS 12 / 7739
59
(HPO:0011298) Prominent digit pad Frequent [IBIS] 17222357 IBIS 1 / 7739
60
(HPO:0001156) Brachydactyly syndrome 17222357 IBIS 180 / 7739
61
(HPO:0001762) Talipes equinovarus Occasional [IBIS] 17222357 IBIS 309 / 7739
62
(HPO:0002974) Radioulnar synostosis Occasional [Orphanet] Rare [IBIS] 17222357 IBIS 52 / 7739
63
(HPO:0007477) Abnormal dermatoglyphics Frequent [Orphanet] 17222357 IBIS 72 / 7739
64
(HPO:0002967) Cubitus valgus Frequent [IBIS] 17222357 IBIS 49 / 7739
65
(HPO:0000277) Abnormality of the mandible Very frequent [Orphanet] 17222357 IBIS 394 / 7739
66
(HPO:0000347) Micrognathia 17222357 IBIS 426 / 7739
67
(HPO:0000337) Broad forehead 26467218 IBIS 116 / 7739
68
(HPO:0000348) High forehead Very frequent [Orphanet] 17222357 IBIS 157 / 7739
69
(HPO:0000765) Abnormality of the thorax Very frequent [IBIS] 17222357 IBIS 64 / 7739
70
(HPO:0003691) Scapular winging 17222357 IBIS 51 / 7739
71
(HPO:0000768) Pectus carinatum Very frequent [Orphanet] 17222357 IBIS 136 / 7739
72
(HPO:0000767) Pectus excavatum Very frequent [Orphanet] 26467218 IBIS 244 / 7739
73
(HPO:0000917) Superior pectus carinatum 25952229 IBIS 11 / 7739
74
(HPO:0002943) Thoracic scoliosis Occasional [IBIS] 17222357 IBIS 12 / 7739
75
(HPO:0000914) Shield chest 12940461 IBIS 14 / 7739
76
(HPO:0000470) Short neck 17222357 IBIS 345 / 7739
77
(HPO:0002751) Kyphoscoliosis 23807040 IBIS 131 / 7739
78
(HPO:0002650) Scoliosis Frequent [IBIS] Frequent [Orphanet] 54% (n=35] 23165751 IBIS 705 / 7739
79
(HPO:0001382) Joint hypermobility Very frequent [Orphanet] Frequent [IBIS] 17222357 IBIS 231 / 7739
80
(HPO:0100769) Synovitis 18925667 IBIS 86 / 7739
81
(HPO:0002750) Delayed skeletal maturation Frequent [Orphanet] 9343272 IBIS 250 / 7739
82
(HPO:0008070) Sparse hair Occasional [IBIS] 17222357 IBIS 94 / 7739
83
(HPO:0002208) Coarse hair Frequent [Orphanet] 15384080 IBIS 58 / 7739
84
(HPO:0002212) Curly hair Frequent [IBIS] 17222357 IBIS 21 / 7739
85
(HPO:0009890) High anterior hairline 17222357 IBIS 10 / 7739
86
(HPO:0002162) Low posterior hairline Frequent [Orphanet] 17222357 IBIS 88 / 7739
87
(HPO:0002020) Gastroesophageal reflux Frequent [IBIS] 60% (n=35) 23165751 IBIS 101 / 7739
88
(HPO:0002593) Intestinal lymphangiectasia 17222357 IBIS 6 / 7739
89
(HPO:0001433) Hepatosplenomegaly 17222357 IBIS 78 / 7739
90
(HPO:0000823) Delayed puberty Frequent [IBIS] 17222357 IBIS 65 / 7739
91
(HPO:0000135) Hypogonadism occasional [HPO:skoehler] 20029233 IBIS 89 / 7739
92
(HPO:0000078) Abnormality of the genital system Frequent [IBIS] Frequent [Orphanet] 17222357 IBIS 33 / 7739
93
(HPO:0000028) Cryptorchidism Frequent [IBIS] 17222357 IBIS 347 / 7739
94
(HPO:0000035) Abnormality of the testis Frequent [Orphanet] 17222357 IBIS 296 / 7739
95
(HPO:0003251) Male infertility 7915331 IBIS 14 / 7739
96
(HPO:0001999) Abnormal facial shape 17222357 IBIS 169 / 7739
97
(HPO:0000280) Coarse facial features 17222357 IBIS 189 / 7739
98
(HPO:0000689) Dental malocclusion 24068150 IBIS 114 / 7739
99
(HPO:0000494) Downslanted palpebral fissures Very frequent [Orphanet] 26467218 IBIS 328 / 7739
100
(HPO:0011800) Midface retrusion Very frequent [Orphanet] 24444506 IBIS 221 / 7739
101
(HPO:0000325) Triangular face Very frequent [Orphanet] 17222357 IBIS 91 / 7739
102
(HPO:0000153) Abnormality of the mouth Very frequent [Orphanet] 8465844 IBIS 60 / 7739
103
(HPO:0012471) Thick vermilion border Very frequent [Orphanet] 8465844 IBIS 115 / 7739
104
(HPO:0000218) High palate 17222357 IBIS 356 / 7739
105
(HPO:0002705) High, narrow palate Very frequent [Orphanet] 17222357 IBIS 308 / 7739
106
(HPO:0005272) Prominent nasolabial fold 17222357 IBIS 4 / 7739
107
(HPO:0000286) Epicanthus 17222357 IBIS 371 / 7739
108
(HPO:0008232) Elevated follicle stimulating hormone 17222357 IBIS 8 / 7739
109
(HPO:0011969) Elevated luteinizing hormone 17222357 IBIS 6 / 7739
110
(HPO:0000407) Sensorineural hearing impairment Occasional [IBIS] Occasional [Orphanet] 17222357 IBIS 524 / 7739
111
(HPO:0011390) Morphological abnormality of the inner ear Occasional [IBIS] Occasional [Orphanet] 17222357 IBIS 21 / 7739
112
(HPO:0011392) Abnormality of the vestibular nerve Rare [IBIS] 17222357 IBIS 1 / 7739
113
(HPO:0100763) Abnormality of the lymphatic system Frequent [Orphanet] 17222357 IBIS 18 / 7739
114
(HPO:0100766) Abnormality of the lymphatic vessels Occasional [IBIS] 17222357 IBIS 1 / 7739
115
(HPO:0003759) Hypoplasia of lymphatic vessels 17222357 IBIS 4 / 7739
116
(HPO:0000388) Otitis media Frequent [IBIS] 17222357 IBIS 28 / 7739
117
(HPO:0000476) Cystic hygroma Frequent [IBIS] Very frequent [Orphanet] 17222357 IBIS 22 / 7739
118
(HPO:0005989) Redundant neck skin Very frequent [Orphanet] 17222357 IBIS 40 / 7739
119
(HPO:0000474) Thickened nuchal skin fold 17222357 IBIS 10 / 7739
120
(HPO:0000465) Webbed neck Very frequent [Orphanet] 24444506 IBIS 81 / 7739
121
(HPO:0004404) Abnormality of the nipple Very frequent [Orphanet] 17222357 IBIS 54 / 7739
122
(HPO:0000357) Abnormal location of ears Very frequent [Orphanet] 24444506 IBIS 328 / 7739
123
(HPO:0011039) Abnormality of the helix Very frequent [Orphanet] 17222357 IBIS 33 / 7739
124
(HPO:0000368) Low-set, posteriorly rotated ears 26467218 IBIS 38 / 7739
125
(HPO:0000391) Thickened helices 17222357 IBIS 8 / 7739
126
(HPO:0000957) Cafe-au-lait spot Occasional [IBIS] 17222357 IBIS 84 / 7739
127
(HPO:0001003) Multiple lentigines Rare [IBIS] 17222357 IBIS 11 / 7739
128
(HPO:0000995) Melanocytic nevus Occasional [IBIS] Occasional [Orphanet] 17222357 IBIS 63 / 7739
129
(HPO:0100678) Premature skin wrinkling 17222357 IBIS 25 / 7739
130
(HPO:0000079) Abnormality of the urinary system Occasional [IBIS] 17222357 IBIS 88 / 7739
131
(HPO:0000126) Hydronephrosis 17222357 IBIS 119 / 7739
132
(HPO:0004414) Abnormality of the pulmonary artery Very frequent [Orphanet] 20301303 IBIS 50 / 7739
133
(HPO:0002616) Aortic root dilatation Rare [IBIS] 6% (n=293) 24534818 IBIS 27 / 7739
134
(HPO:0011869) Abnormal platelet function Frequent [Orphanet] 17222357 IBIS 12 / 7739
135
(HPO:0001873) Thrombocytopenia 17222357 IBIS 224 / 7739
136
(HPO:0004859) Amegakaryocytic thrombocytopenia 26599469 IBIS 3 / 7739
137
(HPO:0001510) Growth delay 26467218 IBIS 295 / 7739
138
(HPO:0008897) Postnatal growth retardation 26467218 IBIS 113 / 7739
139
(HPO:0000365) Hearing impairment Frequent [IBIS] 17222357 IBIS 539 / 7739
140
(HPO:0100697) Neurofibrosarcoma 26337637 IBIS 5 / 7739
141
(HPO:0008373) Puberty and gonadal disorders Very frequent [Orphanet] 17222357 IBIS 156 / 7739
142
(HPO:0045006) Aplasia of lymphatic vessels 17222357 IBIS 1 / 7739
143
(HPO:0002308) Arnold-Chiari malformation Occasional [IBIS] 20% (n=35) 23165751 IBIS 42 / 7739
144
(HPO:0030084) Clinodactyly 17222357 IBIS 90 / 7739
145
(HPO:0040180) Hyperkeratosis pilaris 17222357 IBIS 3 / 7739
146
(MedDRA:10051177) Electrocardiogram Q wave abnormal 17222357 IBIS 6 / 7739
147
(OMIM) Left axis deviation 17222357 IBIS 7 / 7739

Associated genes:

NRAS; PTPN11; KRAS; SOS1; RAF1; BRAF; RIT1; SOS2; LZTR1;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference
BRAF rs121913364 likely pathogenic RCV000150201.1
BRAF rs121913369 pathogenic RCV000030948.26
BRAF rs180177034 pathogenic RCV000154264.1
BRAF rs180177035 pathogenic RCV000150214.1
BRAF rs180177036 pathogenic RCV000154265.1
BRAF rs180177038 pathogenic RCV000150206.1
BRAF rs387906660 pathogenic RCV000022678.27
BRAF rs387906660 pathogenic RCV000037953.3
BRAF rs387906660 pathogenic RCV000022679.26
BRAF rs397507483 pathogenic RCV000150203.1
BRAF rs397507484 pathogenic RCV000037939.3
BRAF rs397516891 likely pathogenic RCV000037920.2
BRAF rs397516905 likely pathogenic RCV000037962.2
BRAF rs606231228 pathogenic RCV000022682.26
BRAF rs727502904 likely pathogenic RCV000150197.1
BRAF rs727504375 likely pathogenic RCV000154526.1
KRAS rs104894359 pathogenic RCV000013428.22
KRAS rs104894359 pathogenic RCV000154267.1
KRAS rs104894360 likely pathogenic RCV000038274.2
KRAS rs104894360 pathogenic RCV000013418.28
KRAS rs104894364 pathogenic RCV000013419.19
KRAS rs104894365 pathogenic RCV000013420.18
KRAS rs104894366 pathogenic RCV000150892.1
KRAS rs104894367 pathogenic RCV000013422.20
KRAS rs121913240 pathogenic RCV000038257.2
KRAS rs193929331 pathogenic RCV000013427.19
KRAS rs397517041 likely pathogenic RCV000038273.2
KRAS rs397517042 pathogenic RCV000150884.1
KRAS rs397517042 likely pathogenic RCV000038275.3
KRAS rs727503108 likely pathogenic RCV000150890.1
KRAS rs727503109 likely pathogenic RCV000150891.1
KRAS rs727503110 pathogenic RCV000150893.1
KRAS rs727504662 pathogenic RCV000155926.1
LZTR1 rs797045165 pathogenic RCV000191028.2
LZTR1 rs797045166 pathogenic RCV000191029.2
NRAS rs121434596 pathogenic RCV000022690.25
NRAS rs121913237 pathogenic RCV000037576.2
NRAS rs121913250 pathogenic RCV000154404.1
NRAS rs267606920 pathogenic RCV000014917.25
NRAS rs267606921 pathogenic RCV000014916.23
PTPN11 rs121918453 pathogenic RCV000157001.1
PTPN11 rs121918453 likely pathogenic RCV000037635.2
PTPN11 rs121918453 pathogenic RCV000014252.25
PTPN11 rs121918454 pathogenic RCV000014253.26
PTPN11 rs121918454 pathogenic RCV000157006.1
PTPN11 rs121918455 pathogenic RCV000037668.3
PTPN11 rs121918455 pathogenic RCV000014255.29
PTPN11 rs121918455 pathogenic RCV000161127.1
PTPN11 rs121918455 pathogenic RCV000037669.3
PTPN11 rs121918456 pathogenic RCV000030620.1
PTPN11 rs121918456 pathogenic RCV000151701.1
PTPN11 rs121918457 pathogenic RCV000157014.1
PTPN11 rs121918458 pathogenic RCV000014260.26
PTPN11 rs121918458 pathogenic RCV000156995.1
PTPN11 rs121918459 pathogenic RCV000157000.2
PTPN11 rs121918459 pathogenic RCV000014261.24
PTPN11 rs121918460 pathogenic RCV000014257.23
PTPN11 rs121918460 pathogenic RCV000156993.1
PTPN11 rs121918461 pathogenic RCV000014258.25
PTPN11 rs121918461 likely pathogenic RCV000156008.1
PTPN11 rs121918461 pathogenic RCV000156984.1
PTPN11 rs121918462 pathogenic RCV000156985.1
PTPN11 rs121918462 pathogenic RCV000014262.24
PTPN11 rs121918463 pathogenic RCV000037664.2
PTPN11 rs121918463 pathogenic RCV000037663.4
PTPN11 rs121918463 pathogenic RCV000014263.19
PTPN11 rs121918464 pathogenic RCV000156974.1
PTPN11 rs121918465 likely pathogenic RCV000154368.1
PTPN11 rs121918466 pathogenic RCV000014268.4
PTPN11 rs121918466 pathogenic RCV000037641.3
PTPN11 rs121918467 pathogenic RCV000014269.2
PTPN11 rs121918468 pathogenic RCV000037611.3
PTPN11 rs121918469 pathogenic RCV000154270.1
PTPN11 rs121918470 pathogenic RCV000151708.1
PTPN11 rs121918470 pathogenic RCV000014273.2
PTPN11 rs201247699 pathogenic RCV000037608.2
PTPN11 rs267606990 pathogenic RCV000014277.3
PTPN11 rs28933386 pathogenic RCV000014254.31
PTPN11 rs28933386 pathogenic RCV000156977.2
PTPN11 rs376607329 likely pathogenic RCV000037658.2
PTPN11 rs397507501 pathogenic RCV000157002.1
PTPN11 rs397507501 pathogenic RCV000037609.2
PTPN11 rs397507503 likely pathogenic RCV000037621.2
PTPN11 rs397507505 pathogenic RCV000037627.2
PTPN11 rs397507505 pathogenic RCV000037626.2
PTPN11 rs397507506 likely pathogenic RCV000037630.3
PTPN11 rs397507506 pathogenic RCV000037629.2
PTPN11 rs397507507 pathogenic RCV000151684.1
PTPN11 rs397507509 pathogenic RCV000037631.2
PTPN11 rs397507511 pathogenic RCV000037633.2
PTPN11 rs397507512 likely pathogenic RCV000151689.1
PTPN11 rs397507514 pathogenic RCV000037639.2
PTPN11 rs397507514 pathogenic RCV000037638.2
PTPN11 rs397507517 pathogenic RCV000037644.2
PTPN11 rs397507517 pathogenic RCV000157021.1
PTPN11 rs397507518 pathogenic RCV000037645.2
PTPN11 rs397507520 pathogenic RCV000157007.1
PTPN11 rs397507520 pathogenic RCV000154277.1
PTPN11 rs397507520 pathogenic RCV000037647.2
PTPN11 rs397507523 likely pathogenic RCV000151697.1
PTPN11 rs397507525 likely pathogenic RCV000037657.2
PTPN11 rs397507527 likely pathogenic RCV000037659.2
PTPN11 rs397507527 likely pathogenic RCV000037660.2
PTPN11 rs397507529 pathogenic RCV000154403.2
PTPN11 rs397507530 likely pathogenic RCV000037661.2
PTPN11 rs397507531 pathogenic RCV000037662.2
PTPN11 rs397507539 pathogenic RCV000037615.2
PTPN11 rs397507539 pathogenic RCV000157010.1
PTPN11 rs397507539 pathogenic RCV000037614.2
PTPN11 rs397507540 pathogenic RCV000154250.1
PTPN11 rs397507540 likely pathogenic RCV000037617.2
PTPN11 rs397507540 pathogenic RCV000156989.1
PTPN11 rs397507541 pathogenic RCV000154369.1
PTPN11 rs397507542 pathogenic RCV000154304.1
PTPN11 rs397507543 pathogenic RCV000037618.2
PTPN11 rs397507544 pathogenic RCV000037619.2
PTPN11 rs397507545 pathogenic RCV000157015.1
PTPN11 rs397507545 pathogenic RCV000037620.2
PTPN11 rs397507545 pathogenic RCV000156971.1
PTPN11 rs397507547 pathogenic RCV000156983.1
PTPN11 rs397507547 pathogenic RCV000037616.2
PTPN11 rs397507549 pathogenic RCV000154278.1
PTPN11 rs397516801 likely pathogenic RCV000037634.2
PTPN11 rs397516802 pathogenic RCV000037637.2
PTPN11 rs397516803 likely pathogenic RCV000037640.2
PTPN11 rs397516809 likely pathogenic RCV000037656.2
PTPN11 rs397516810 pathogenic RCV000037665.2
PTPN11 rs727503381 likely pathogenic RCV000151696.1
PTPN11 rs80338836 pathogenic RCV000014274.3
RAF1 rs121434594 pathogenic RCV000037704.3
RAF1 rs121434594 pathogenic RCV000014987.25
RAF1 rs121434594 pathogenic RCV000037703.2
RAF1 rs3730271 likely pathogenic RCV000037698.2
RAF1 rs397516815 likely pathogenic RCV000037675.2
RAF1 rs397516822 pathogenic RCV000037693.2
RAF1 rs397516825 likely pathogenic RCV000037699.2
RAF1 rs397516826 pathogenic RCV000037701.2
RAF1 rs397516826 likely pathogenic RCV000037700.2
RAF1 rs397516828 pathogenic RCV000106325.2
RAF1 rs397516829 pathogenic RCV000037707.3
RAF1 rs397516830 pathogenic RCV000037708.3
RAF1 rs397516830 likely pathogenic RCV000161123.1
RAF1 rs587782971 likely pathogenic RCV000143943.1
RAF1 rs587782972 likely pathogenic RCV000143944.1
RAF1 rs727503384 likely pathogenic RCV000151719.1
RAF1 rs80338796 pathogenic RCV000014985.22
RAF1 rs80338796 pathogenic RCV000157426.1
RAF1 rs80338797 pathogenic RCV000014990.23
RAF1 rs80338799 pathogenic RCV000037676.2
RAF1 rs80338799 pathogenic RCV000014988.25
RIT1 rs672601334 pathogenic RCV000054404.3
RIT1 rs672601335 pathogenic RCV000054407.4
SOS1 rs137852812 pathogenic RCV000013729.24
SOS1 rs137852812 pathogenic RCV000038570.3
SOS1 rs137852813 pathogenic RCV000038571.2
SOS1 rs137852813 pathogenic RCV000013730.22
SOS1 rs137852814 pathogenic RCV000013731.17
SOS1 rs137852814 pathogenic RCV000156980.1
SOS1 rs267607079 pathogenic RCV000156992.1
SOS1 rs267607079 pathogenic RCV000038525.2
SOS1 rs267607079 pathogenic RCV000013732.24
SOS1 rs267607080 pathogenic RCV000013733.24
SOS1 rs397517146 likely pathogenic RCV000038510.2
SOS1 rs397517147 pathogenic RCV000038513.2
SOS1 rs397517148 pathogenic RCV000038514.2
SOS1 rs397517149 pathogenic RCV000038515.2
SOS1 rs397517150 pathogenic RCV000038516.3
SOS1 rs397517150 pathogenic RCV000161121.2
SOS1 rs397517151 likely pathogenic RCV000038517.2
SOS1 rs397517153 pathogenic RCV000038520.2
SOS1 rs397517154 pathogenic RCV000157017.1
SOS1 rs397517154 pathogenic RCV000038523.2
SOS1 rs397517154 pathogenic RCV000038522.2
SOS1 rs397517156 pathogenic RCV000038531.2
SOS1 rs397517159 pathogenic RCV000038535.2
SOS1 rs397517163 likely pathogenic RCV000038544.2
SOS1 rs397517164 likely pathogenic RCV000038546.2
SOS1 rs397517166 likely pathogenic RCV000038549.2
SOS1 rs397517172 pathogenic RCV000038560.2
SOS1 rs397517174 likely pathogenic RCV000038562.2
SOS1 rs397517180 pathogenic RCV000038575.2
SOS1 rs727504295 pathogenic RCV000154314.1
SOS1 rs727505381 pathogenic RCV000156979.1
SOS2 rs797045167 pathogenic RCV000191031.2

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