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:
|
(HPO:0002019) | Constipation | Frequent [IBIS] | 51% (n=35) | 23165751 | IBIS | 194 / 7739 |
|
(HPO:0011968) | Feeding difficulties | Frequent [IBIS] | 17222357 | IBIS | 240 / 7739 | |
|
(HPO:0001892) | Abnormal bleeding | 26467218 | IBIS | 85 / 7739 | ||
|
(HPO:0003010) | Prolonged bleeding time | Frequent [Orphanet] Frequent [IBIS] | 17222357 | IBIS | 88 / 7739 | |
|
(HPO:0000978) | Bruising susceptibility | Frequent [IBIS] | 63% (n=35) | 23165751 | IBIS | 123 / 7739 |
|
(HPO:0000316) | Hypertelorism | Very frequent [Orphanet] | 26467218 | IBIS | 644 / 7739 | |
|
(HPO:0000520) | Proptosis | Very frequent [Orphanet] | 21464791 | IBIS | 192 / 7739 | |
|
(HPO:0004328) | Abnormality of the anterior segment of the globe | Frequent [IBIS] | 17222357 | IBIS | 1 / 7739 | |
|
(HPO:0000639) | Nystagmus | Occasional [IBIS] Occasional [Orphanet] | 17222357 | IBIS | 555 / 7739 | |
|
(HPO:0000486) | Strabismus | Frequent [IBIS] Frequent [Orphanet] | 37% (n=35) | 23165751 | IBIS | 576 / 7739 |
|
(HPO:0000539) | Abnormality of refraction | Frequent [IBIS] | 83% (n=35) | 23165751 | IBIS | 6 / 7739 |
|
(HPO:0000545) | Myopia | 21815719 | IBIS | 286 / 7739 | ||
|
(HPO:0000646) | Amblyopia | Frequent [IBIS] | 17222357 | IBIS | 42 / 7739 | |
|
(HPO:0000508) | Ptosis | Frequent [IBIS] Very frequent [Orphanet] | 69% (n=35) | 23165751 | IBIS | 459 / 7739 |
|
(HPO:0001488) | Bilateral ptosis | 17222357 | IBIS | 42 / 7739 | ||
|
(HPO:0007687) | Unilateral ptosis | 17222357 | IBIS | 4 / 7739 | ||
|
(HPO:0006521) | Pulmonary lymphangiectasia | 17222357 | IBIS | 6 / 7739 | ||
|
(HPO:0002202) | Pleural effusion | 17222357 | IBIS | 22 / 7739 | ||
|
(HPO:0010310) | Chylothorax | 17222357 | IBIS | 6 / 7739 | ||
|
(HPO:0004322) | Short stature | Very frequent [Orphanet] | 26467218 | IBIS | 1232 / 7739 | |
|
(HPO:0004325) | Decreased body weight | Very frequent [Orphanet] | 26467218 | IBIS | 492 / 7739 | |
|
(HPO:0001508) | Failure to thrive | Frequent [IBIS] | 17222357 | IBIS | 454 / 7739 | |
|
(HPO:0001531) | Failure to thrive in infancy | 26467218 | IBIS | 26 / 7739 | ||
|
(HPO:0030680) | Abnormality of cardiovascular system morphology | Very frequent [Orphanet] | 26467218 | IBIS | 355 / 7739 | |
|
(HPO:0001631) | Atria septal defect | Occasional [IBIS] | 10% (n=118) | 8409059 | IBIS | 274 / 7739 |
|
(HPO:0001629) | Ventricular septal defect | Occasional [IBIS] | 12% (n=293) | 24534818 | IBIS | 316 / 7739 |
|
(HPO:0001633) | Abnormality of the mitral valve | Frequent [IBIS] | 17222357 | IBIS | 69 / 7739 | |
|
(HPO:0001653) | Mitral regurgitation | 24068150 | IBIS | 64 / 7739 | ||
|
(HPO:0001634) | Mitral valve prolapse | Rare [IBIS] | 6% (n=293) | 24534818 | IBIS | 69 / 7739 |
|
(HPO:0011994) | Abnormality of the atrial septum | 17222357 | IBIS | 1 / 7739 | ||
|
(HPO:0006695) | Atrioventricular canal defect | Frequent [IBIS] | 17222357 | IBIS | 27 / 7739 | |
|
(HPO:0001641) | Abnormality of the pulmonary valve | Very frequent [Orphanet] | 24220280 | IBIS | 27 / 7739 | |
|
(HPO:0001650) | Aortic valve stenosis | Rare [IBIS] | 2% (n=293) | 24534818 | IBIS | 49 / 7739 |
|
(HPO:0001639) | Hypertrophic cardiomyopathy | Occasional [IBIS] | 16% (n=293) | 24534818 | IBIS | 137 / 7739 |
|
(HPO:0001680) | Coarctation of aorta | Rare [IBIS] | 2% (n=293) | 24534818 | IBIS | 57 / 7739 |
|
(HPO:0001643) | Patent ductus arteriosus | Occasional [IBIS] | 9% (n=293) | 24534818 | IBIS | 228 / 7739 |
|
(HPO:0004415) | Pulmonary artery stenosis | 20301303 | IBIS | 25 / 7739 | ||
|
(HPO:0001642) | Pulmonic stenosis | Frequent [IBIS] | 57% (n=293) | 24534818 | IBIS | 89 / 7739 |
|
(HPO:0001636) | Tetralogy of Fallot | Rare [IBIS] | 2% (n=293) | 24534818 | IBIS | 104 / 7739 |
|
(HPO:0006677) | Prolonged QRS complex | Frequent [IBIS] | 17222357 | IBIS | 16 / 7739 | |
|
(HPO:0011675) | Arrhythmia | Frequent [Orphanet] Occasional [IBIS] | 29% (n=35) | 23165751 | IBIS | 226 / 7739 |
|
(HPO:0001928) | Abnormality of coagulation | Frequent [Orphanet] Frequent [IBIS] | 17222357 | IBIS | 44 / 7739 | |
|
(HPO:0003125) | Reduced factor VIII activity | 17222357 | IBIS | 13 / 7739 | ||
|
(HPO:0001929) | Reduced factor XI activity | 17222357 | IBIS | 7 / 7739 | ||
|
(HPO:0004841) | Reduced factor XII activity | 17222357 | IBIS | 4 / 7739 | ||
|
(HPO:0002058) | Myopathic facies | 17222357 | IBIS | 26 / 7739 | ||
|
(HPO:0001004) | Lymphedema | Frequent [IBIS] Occasional [Orphanet] | 49% (n=35) | 23165751 | IBIS | 62 / 7739 |
|
(HPO:0002488) | Acute leukemia | 17222357 | IBIS | 29 / 7739 | ||
|
(HPO:0006721) | Acute lymphoblastic leukemia | 26855057 | IBIS | 7 / 7739 | ||
|
(HPO:0005547) | Myeloproliferative disorder | Rare [IBIS] | 17222357 | IBIS | 7 / 7739 | |
|
(HPO:0001252) | Muscular hypotonia | Very frequent [Orphanet] | 15804304 | IBIS | 990 / 7739 | |
|
(HPO:0001324) | Muscle weakness | Very frequent [Orphanet] | 22907230 | IBIS | 859 / 7739 | |
|
(HPO:0001249) | Intellectual disability | 25% [HPO:probinson] | 26467218 | IBIS | 1089 / 7739 | |
|
(HPO:0002167) | Neurological speech impairment | Very frequent [Orphanet] | 20301303 | IBIS | 308 / 7739 | |
|
(HPO:0002015) | Dysphagia | Frequent [Orphanet] | 10373129 | IBIS | 301 / 7739 | |
|
(HPO:0001561) | Polyhydramnios | 17222357 | IBIS | 191 / 7739 | ||
|
(HPO:0011297) | Abnormality of digit | Occasional [IBIS] | 17222357 | IBIS | 4 / 7739 | |
|
(HPO:0001212) | Prominent fingertip pads | 17222357 | IBIS | 12 / 7739 | ||
|
(HPO:0011298) | Prominent digit pad | Frequent [IBIS] | 17222357 | IBIS | 1 / 7739 | |
|
(HPO:0001156) | Brachydactyly syndrome | 17222357 | IBIS | 180 / 7739 | ||
|
(HPO:0001762) | Talipes equinovarus | Occasional [IBIS] | 17222357 | IBIS | 309 / 7739 | |
|
(HPO:0002974) | Radioulnar synostosis | Occasional [Orphanet] Rare [IBIS] | 17222357 | IBIS | 52 / 7739 | |
|
(HPO:0007477) | Abnormal dermatoglyphics | Frequent [Orphanet] | 17222357 | IBIS | 72 / 7739 | |
|
(HPO:0002967) | Cubitus valgus | Frequent [IBIS] | 17222357 | IBIS | 49 / 7739 | |
|
(HPO:0000277) | Abnormality of the mandible | Very frequent [Orphanet] | 17222357 | IBIS | 394 / 7739 | |
|
(HPO:0000347) | Micrognathia | 17222357 | IBIS | 426 / 7739 | ||
|
(HPO:0000337) | Broad forehead | 26467218 | IBIS | 116 / 7739 | ||
|
(HPO:0000348) | High forehead | Very frequent [Orphanet] | 17222357 | IBIS | 157 / 7739 | |
|
(HPO:0000765) | Abnormality of the thorax | Very frequent [IBIS] | 17222357 | IBIS | 64 / 7739 | |
|
(HPO:0003691) | Scapular winging | 17222357 | IBIS | 51 / 7739 | ||
|
(HPO:0000768) | Pectus carinatum | Very frequent [Orphanet] | 17222357 | IBIS | 136 / 7739 | |
|
(HPO:0000767) | Pectus excavatum | Very frequent [Orphanet] | 26467218 | IBIS | 244 / 7739 | |
|
(HPO:0000917) | Superior pectus carinatum | 25952229 | IBIS | 11 / 7739 | ||
|
(HPO:0002943) | Thoracic scoliosis | Occasional [IBIS] | 17222357 | IBIS | 12 / 7739 | |
|
(HPO:0000914) | Shield chest | 12940461 | IBIS | 14 / 7739 | ||
|
(HPO:0000470) | Short neck | 17222357 | IBIS | 345 / 7739 | ||
|
(HPO:0002751) | Kyphoscoliosis | 23807040 | IBIS | 131 / 7739 | ||
|
(HPO:0002650) | Scoliosis | Frequent [IBIS] Frequent [Orphanet] | 54% (n=35] | 23165751 | IBIS | 705 / 7739 |
|
(HPO:0001382) | Joint hypermobility | Very frequent [Orphanet] Frequent [IBIS] | 17222357 | IBIS | 231 / 7739 | |
|
(HPO:0100769) | Synovitis | 18925667 | IBIS | 86 / 7739 | ||
|
(HPO:0002750) | Delayed skeletal maturation | Frequent [Orphanet] | 9343272 | IBIS | 250 / 7739 | |
|
(HPO:0008070) | Sparse hair | Occasional [IBIS] | 17222357 | IBIS | 94 / 7739 | |
|
(HPO:0002208) | Coarse hair | Frequent [Orphanet] | 15384080 | IBIS | 58 / 7739 | |
|
(HPO:0002212) | Curly hair | Frequent [IBIS] | 17222357 | IBIS | 21 / 7739 | |
|
(HPO:0009890) | High anterior hairline | 17222357 | IBIS | 10 / 7739 | ||
|
(HPO:0002162) | Low posterior hairline | Frequent [Orphanet] | 17222357 | IBIS | 88 / 7739 | |
|
(HPO:0002020) | Gastroesophageal reflux | Frequent [IBIS] | 60% (n=35) | 23165751 | IBIS | 101 / 7739 |
|
(HPO:0002593) | Intestinal lymphangiectasia | 17222357 | IBIS | 6 / 7739 | ||
|
(HPO:0001433) | Hepatosplenomegaly | 17222357 | IBIS | 78 / 7739 | ||
|
(HPO:0000823) | Delayed puberty | Frequent [IBIS] | 17222357 | IBIS | 65 / 7739 | |
|
(HPO:0000135) | Hypogonadism | occasional [HPO:skoehler] | 20029233 | IBIS | 89 / 7739 | |
|
(HPO:0000078) | Abnormality of the genital system | Frequent [IBIS] Frequent [Orphanet] | 17222357 | IBIS | 33 / 7739 | |
|
(HPO:0000028) | Cryptorchidism | Frequent [IBIS] | 17222357 | IBIS | 347 / 7739 | |
|
(HPO:0000035) | Abnormality of the testis | Frequent [Orphanet] | 17222357 | IBIS | 296 / 7739 | |
|
(HPO:0003251) | Male infertility | 7915331 | IBIS | 14 / 7739 | ||
|
(HPO:0001999) | Abnormal facial shape | 17222357 | IBIS | 169 / 7739 | ||
|
(HPO:0000280) | Coarse facial features | 17222357 | IBIS | 189 / 7739 | ||
|
(HPO:0000689) | Dental malocclusion | 24068150 | IBIS | 114 / 7739 | ||
|
(HPO:0000494) | Downslanted palpebral fissures | Very frequent [Orphanet] | 26467218 | IBIS | 328 / 7739 | |
|
(HPO:0011800) | Midface retrusion | Very frequent [Orphanet] | 24444506 | IBIS | 221 / 7739 | |
|
(HPO:0000325) | Triangular face | Very frequent [Orphanet] | 17222357 | IBIS | 91 / 7739 | |
|
(HPO:0000153) | Abnormality of the mouth | Very frequent [Orphanet] | 8465844 | IBIS | 60 / 7739 | |
|
(HPO:0012471) | Thick vermilion border | Very frequent [Orphanet] | 8465844 | IBIS | 115 / 7739 | |
|
(HPO:0000218) | High palate | 17222357 | IBIS | 356 / 7739 | ||
|
(HPO:0002705) | High, narrow palate | Very frequent [Orphanet] | 17222357 | IBIS | 308 / 7739 | |
|
(HPO:0005272) | Prominent nasolabial fold | 17222357 | IBIS | 4 / 7739 | ||
|
(HPO:0000286) | Epicanthus | 17222357 | IBIS | 371 / 7739 | ||
|
(HPO:0008232) | Elevated follicle stimulating hormone | 17222357 | IBIS | 8 / 7739 | ||
|
(HPO:0011969) | Elevated luteinizing hormone | 17222357 | IBIS | 6 / 7739 | ||
|
(HPO:0000407) | Sensorineural hearing impairment | Occasional [IBIS] Occasional [Orphanet] | 17222357 | IBIS | 524 / 7739 | |
|
(HPO:0011390) | Morphological abnormality of the inner ear | Occasional [IBIS] Occasional [Orphanet] | 17222357 | IBIS | 21 / 7739 | |
|
(HPO:0011392) | Abnormality of the vestibular nerve | Rare [IBIS] | 17222357 | IBIS | 1 / 7739 | |
|
(HPO:0100763) | Abnormality of the lymphatic system | Frequent [Orphanet] | 17222357 | IBIS | 18 / 7739 | |
|
(HPO:0100766) | Abnormality of the lymphatic vessels | Occasional [IBIS] | 17222357 | IBIS | 1 / 7739 | |
|
(HPO:0003759) | Hypoplasia of lymphatic vessels | 17222357 | IBIS | 4 / 7739 | ||
|
(HPO:0000388) | Otitis media | Frequent [IBIS] | 17222357 | IBIS | 28 / 7739 | |
|
(HPO:0000476) | Cystic hygroma | Frequent [IBIS] Very frequent [Orphanet] | 17222357 | IBIS | 22 / 7739 | |
|
(HPO:0005989) | Redundant neck skin | Very frequent [Orphanet] | 17222357 | IBIS | 40 / 7739 | |
|
(HPO:0000474) | Thickened nuchal skin fold | 17222357 | IBIS | 10 / 7739 | ||
|
(HPO:0000465) | Webbed neck | Very frequent [Orphanet] | 24444506 | IBIS | 81 / 7739 | |
|
(HPO:0004404) | Abnormality of the nipple | Very frequent [Orphanet] | 17222357 | IBIS | 54 / 7739 | |
|
(HPO:0000357) | Abnormal location of ears | Very frequent [Orphanet] | 24444506 | IBIS | 328 / 7739 | |
|
(HPO:0011039) | Abnormality of the helix | Very frequent [Orphanet] | 17222357 | IBIS | 33 / 7739 | |
|
(HPO:0000368) | Low-set, posteriorly rotated ears | 26467218 | IBIS | 38 / 7739 | ||
|
(HPO:0000391) | Thickened helices | 17222357 | IBIS | 8 / 7739 | ||
|
(HPO:0000957) | Cafe-au-lait spot | Occasional [IBIS] | 17222357 | IBIS | 84 / 7739 | |
|
(HPO:0001003) | Multiple lentigines | Rare [IBIS] | 17222357 | IBIS | 11 / 7739 | |
|
(HPO:0000995) | Melanocytic nevus | Occasional [IBIS] Occasional [Orphanet] | 17222357 | IBIS | 63 / 7739 | |
|
(HPO:0100678) | Premature skin wrinkling | 17222357 | IBIS | 25 / 7739 | ||
|
(HPO:0000079) | Abnormality of the urinary system | Occasional [IBIS] | 17222357 | IBIS | 88 / 7739 | |
|
(HPO:0000126) | Hydronephrosis | 17222357 | IBIS | 119 / 7739 | ||
|
(HPO:0004414) | Abnormality of the pulmonary artery | Very frequent [Orphanet] | 20301303 | IBIS | 50 / 7739 | |
|
(HPO:0002616) | Aortic root dilatation | Rare [IBIS] | 6% (n=293) | 24534818 | IBIS | 27 / 7739 |
|
(HPO:0011869) | Abnormal platelet function | Frequent [Orphanet] | 17222357 | IBIS | 12 / 7739 | |
|
(HPO:0001873) | Thrombocytopenia | 17222357 | IBIS | 224 / 7739 | ||
|
(HPO:0004859) | Amegakaryocytic thrombocytopenia | 26599469 | IBIS | 3 / 7739 | ||
|
(HPO:0001510) | Growth delay | 26467218 | IBIS | 295 / 7739 | ||
|
(HPO:0008897) | Postnatal growth retardation | 26467218 | IBIS | 113 / 7739 | ||
|
(HPO:0000365) | Hearing impairment | Frequent [IBIS] | 17222357 | IBIS | 539 / 7739 | |
|
(HPO:0100697) | Neurofibrosarcoma | 26337637 | IBIS | 5 / 7739 | ||
|
(HPO:0008373) | Puberty and gonadal disorders | Very frequent [Orphanet] | 17222357 | IBIS | 156 / 7739 | |
|
(HPO:0045006) | Aplasia of lymphatic vessels | 17222357 | IBIS | 1 / 7739 | ||
|
(HPO:0002308) | Arnold-Chiari malformation | Occasional [IBIS] | 20% (n=35) | 23165751 | IBIS | 42 / 7739 |
|
(HPO:0030084) | Clinodactyly | 17222357 | IBIS | 90 / 7739 | ||
|
(HPO:0040180) | Hyperkeratosis pilaris | 17222357 | IBIS | 3 / 7739 | ||
|
(MedDRA:10051177) | Electrocardiogram Q wave abnormal | 17222357 | IBIS | 6 / 7739 | ||
|
(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 | RCV000037953.3 |
BRAF | rs387906660 | pathogenic | RCV000022678.27 |
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 | RCV000154267.1 |
KRAS | rs104894359 | pathogenic | RCV000013428.22 |
KRAS | rs104894360 | pathogenic | RCV000013418.28 |
KRAS | rs104894360 | likely pathogenic | RCV000038274.2 |
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 | RCV000014252.25 |
PTPN11 | rs121918453 | likely pathogenic | RCV000037635.2 |
PTPN11 | rs121918453 | pathogenic | RCV000157001.1 |
PTPN11 | rs121918454 | pathogenic | RCV000157006.1 |
PTPN11 | rs121918454 | pathogenic | RCV000014253.26 |
PTPN11 | rs121918455 | pathogenic | RCV000161127.1 |
PTPN11 | rs121918455 | pathogenic | RCV000037669.3 |
PTPN11 | rs121918455 | pathogenic | RCV000037668.3 |
PTPN11 | rs121918455 | pathogenic | RCV000014255.29 |
PTPN11 | rs121918456 | pathogenic | RCV000030620.1 |
PTPN11 | rs121918456 | pathogenic | RCV000151701.1 |
PTPN11 | rs121918457 | pathogenic | RCV000157014.1 |
PTPN11 | rs121918458 | pathogenic | RCV000156995.1 |
PTPN11 | rs121918458 | pathogenic | RCV000014260.26 |
PTPN11 | rs121918459 | pathogenic | RCV000014261.24 |
PTPN11 | rs121918459 | pathogenic | RCV000157000.2 |
PTPN11 | rs121918460 | pathogenic | RCV000014257.23 |
PTPN11 | rs121918460 | pathogenic | RCV000156993.1 |
PTPN11 | rs121918461 | pathogenic | RCV000156984.1 |
PTPN11 | rs121918461 | pathogenic | RCV000014258.25 |
PTPN11 | rs121918461 | likely pathogenic | RCV000156008.1 |
PTPN11 | rs121918462 | pathogenic | RCV000014262.24 |
PTPN11 | rs121918462 | pathogenic | RCV000156985.1 |
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 | RCV000037641.3 |
PTPN11 | rs121918466 | pathogenic | RCV000014268.4 |
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 | RCV000037647.2 |
PTPN11 | rs397507520 | pathogenic | RCV000154277.1 |
PTPN11 | rs397507520 | pathogenic | RCV000157007.1 |
PTPN11 | rs397507523 | likely pathogenic | RCV000151697.1 |
PTPN11 | rs397507525 | likely pathogenic | RCV000037657.2 |
PTPN11 | rs397507527 | likely pathogenic | RCV000037660.2 |
PTPN11 | rs397507527 | likely pathogenic | RCV000037659.2 |
PTPN11 | rs397507529 | pathogenic | RCV000154403.2 |
PTPN11 | rs397507530 | likely pathogenic | RCV000037661.2 |
PTPN11 | rs397507531 | pathogenic | RCV000037662.2 |
PTPN11 | rs397507539 | pathogenic | RCV000157010.1 |
PTPN11 | rs397507539 | pathogenic | RCV000037614.2 |
PTPN11 | rs397507539 | pathogenic | RCV000037615.2 |
PTPN11 | rs397507540 | pathogenic | RCV000156989.1 |
PTPN11 | rs397507540 | likely pathogenic | RCV000037617.2 |
PTPN11 | rs397507540 | pathogenic | RCV000154250.1 |
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 | RCV000156971.1 |
PTPN11 | rs397507545 | pathogenic | RCV000037620.2 |
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 | RCV000037703.2 |
RAF1 | rs121434594 | pathogenic | RCV000037704.3 |
RAF1 | rs121434594 | pathogenic | RCV000014987.25 |
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 | likely pathogenic | RCV000037700.2 |
RAF1 | rs397516826 | pathogenic | RCV000037701.2 |
RAF1 | rs397516828 | pathogenic | RCV000106325.2 |
RAF1 | rs397516829 | pathogenic | RCV000037707.3 |
RAF1 | rs397516830 | likely pathogenic | RCV000161123.1 |
RAF1 | rs397516830 | pathogenic | RCV000037708.3 |
RAF1 | rs587782971 | likely pathogenic | RCV000143943.1 |
RAF1 | rs587782972 | likely pathogenic | RCV000143944.1 |
RAF1 | rs727503384 | likely pathogenic | RCV000151719.1 |
RAF1 | rs80338796 | pathogenic | RCV000157426.1 |
RAF1 | rs80338796 | pathogenic | RCV000014985.22 |
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 | RCV000013730.22 |
SOS1 | rs137852813 | pathogenic | RCV000038571.2 |
SOS1 | rs137852814 | pathogenic | RCV000156980.1 |
SOS1 | rs137852814 | pathogenic | RCV000013731.17 |
SOS1 | rs267607079 | pathogenic | RCV000038525.2 |
SOS1 | rs267607079 | pathogenic | RCV000156992.1 |
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 | RCV000161121.2 |
SOS1 | rs397517150 | pathogenic | RCV000038516.3 |
SOS1 | rs397517151 | likely pathogenic | RCV000038517.2 |
SOS1 | rs397517153 | pathogenic | RCV000038520.2 |
SOS1 | rs397517154 | pathogenic | RCV000157017.1 |
SOS1 | rs397517154 | pathogenic | RCV000038522.2 |
SOS1 | rs397517154 | pathogenic | RCV000038523.2 |
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 |