WVS
MCID: WVR001
MIFTS: 59

Weaver Syndrome (WVS)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Weaver Syndrome

MalaCards integrated aliases for Weaver Syndrome:

Name: Weaver Syndrome 56 12 74 52 25 58 73 36 29 13 54 6 15 39 71
Wss 56 52 25 73
Weaver-Smith Syndrome 56 25 73
Camptodactyly-Overgrowth-Unusual Facies Syndrome 52 58
Weaver-Williams Syndrome 12 58
Weaver-Like Syndrome 12 43
Wvs 56 73
Mental Retardation, Microcephaly, Weight Deficiency, Unusual Facies, Clinodactyly, Bone Hypoplasia, and Cleft Palate 52
Overgrowth Syndrome with Accelerated Skeletal Maturation, Unusual Facies, and Camptodactyly 52
Camptodactyly - Overgrowth - Unusual Facies 52
Camptodactyly-Overgrowth-Unusual Facies 25
Weaver-Smith Syndrome; Wss 56
Weaver Williams Syndrome 52
Ezh2 Related Overgrowth 52
Weaver Syndrome, Type 2 39
Weaver Smith Syndrome 52
Weaver Like Syndrome 52
Weaver Syndrome 1 73
Weaver Syndrome 2 73
Wvs1 73
Wvs2 73

Characteristics:

Orphanet epidemiological data:

58
weaver syndrome
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal;
weaver-williams syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
most cases are sporadic
significant clinical overlap with sotos syndrome


HPO:

31
weaver syndrome:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Weaver Syndrome

Genetics Home Reference : 25 Weaver syndrome is a condition that involves tall stature with or without a large head size (macrocephaly), a variable degree of intellectual disability (usually mild), and characteristic facial features. These features can include a broad forehead; widely spaced eyes (hypertelorism); large, low-set ears; a dimpled chin, and a small lower jaw (micrognathia). People with Weaver syndrome can also have joint deformities called contractures that restrict the movement of affected joints. The contractures may particularly affect the fingers and toes, resulting in permanently bent digits (camptodactyly). Other features of this disorder can include abnormal curvature of the spine (kyphoscoliosis); muscle tone that is either reduced (hypotonia) or increased (hypertonia); loose, saggy skin; and a soft-outpouching around the belly-button (umbilical hernia). Some affected individuals have abnormalities in the folds (gyri) of the brain, which can be seen by medical imaging; the relationship between these brain abnormalities and the intellectual disability associated with Weaver syndrome is unclear. Researchers suggest that people with Weaver syndrome may have an increased risk of developing cancer, in particular a slightly increased risk of developing a tumor called neuroblastoma in early childhood, but the small number of affected individuals makes it difficult to determine the exact risk.

MalaCards based summary : Weaver Syndrome, also known as wss, is related to sotos syndrome 1 and overgrowth syndrome, and has symptoms including muscle spasticity An important gene associated with Weaver Syndrome is EZH2 (Enhancer Of Zeste 2 Polycomb Repressive Complex 2 Subunit), and among its related pathways/superpathways are Lysine degradation and Cellular Senescence (REACTOME). Affiliated tissues include bone, skin and brain, and related phenotypes are microcephaly and cleft palate

Disease Ontology : 12 A syndrome that is characterized by prenatal and postnatal overgrowth, accelerated osseous maturation, characteristic craniofacial appearance, and developmental delay and has material basis in heterozygous mutation in the EZH2 gene on chromosome 7q36.

NIH Rare Diseases : 52 Weaver syndrome is a rare condition that is characterized primarily by tall stature. Other signs and symptoms of the condition may include macrocephaly (unusually large head size); intellectual disability ; distinctive facial features; camptodactyly (permanently bent digits) of the fingers and/or toes; poor coordination; soft and doughy skin; umbilical hernia ; abnormal muscle tone; and a hoarse, low-pitched cry during infancy. Some studies also suggest that people affected by Weaver syndrome may have an increased risk of developing neuroblastoma . Weaver syndrome is usually caused by changes (mutations ) in the EZH2 gene . Although the condition is considered autosomal dominant , most cases occur as de novo mutations in people with no family history of the condition. Treatment is based on the signs and symptoms present in each person.

OMIM : 56 Weaver syndrome comprises pre- and postnatal overgrowth, accelerated osseous maturation, characteristic craniofacial appearance, and developmental delay. Most cases are sporadic, although autosomal dominant inheritance has been reported. Although there is phenotypic overlap between Weaver syndrome and Sotos syndrome (117550), distinguishing features of Weaver syndrome include broad forehead and face, ocular hypertelorism, prominent wide philtrum, micrognathia, deep horizontal chin groove, and deep-set nails. In addition, carpal bone development is advanced over the rest of the hand in Weaver syndrome, whereas in Sotos syndrome carpal bone development is at or behind that of the rest of the hand (summary by Basel-Vanagaite, 2010). Sotos syndrome (117550), which shows considerable phenotypic overlap with Weaver syndrome, is caused by mutation in the NSD1 gene (601573) on chromosome 5q35. Other 'Weaver-like' syndromes include Cohen-Gibson syndrome (COGIS; 617561), caused by heterozygous mutation in the EED gene (605984) on chromosome 11q14; and Imagawa-Matsumoto syndrome (IMMAS; 618786), caused by heterozygous mutation in the SUZ12 gene (606245) on chromosome 17q11. The 'Weaver-like' syndrome reported by Stoll et al. (1985) in a mother and son may be a separate entity. (277590)

KEGG : 36 Weaver syndrome (WS) is an overgrowth syndrome, characterized by tall stature, a typical facial appearance, and variable intellectual disability. Although there is phenotypic overlap between Weaver syndrome and Sotos syndrome, WS patients have additional clinical features including camptodactyly, doughy skin, umbilical hernia, and a low hoarse cry. Recently, mutations in the histone methyltransferase, EZH2, were shown to cause WS.

UniProtKB/Swiss-Prot : 73 Weaver syndrome: A syndrome of accelerated growth and osseous maturation, unusual craniofacial appearance, hoarse and low-pitched cry, and hypertonia with camptodactyly. Distinguishing features of Weaver syndrome include broad forehead and face, ocular hypertelorism, prominent wide philtrum, micrognathia, deep horizontal chin groove, and deep-set nails. In addition, carpal bone development is advanced over the rest of the hand.

Wikipedia : 74 Weaver syndrome is a rare autosomal dominant genetic disorder associated with rapid growth beginning in... more...

Related Diseases for Weaver Syndrome

Diseases related to Weaver Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 181, show less)
# Related Disease Score Top Affiliating Genes
1 sotos syndrome 1 32.1 ZNF496 SETD2 PWWP2B NSD3 NSD1 KMT2D
2 overgrowth syndrome 31.6 SETD2 NSD1 DNMT3A
3 macroglossia 30.8 NSD1 CDKN1C
4 rahman syndrome 30.6 H1-4 DNMT3A
5 beckwith-wiedemann syndrome 30.1 NSD3 NSD1 KDM4C H2AC18 EZH2 DNMT3A
6 leukemia, acute myeloid 29.8 SUZ12 SETD2 NSD1 KMT2D KDM4C H3-2
7 wrinkly skin syndrome 12.1
8 woodhouse-sakati syndrome 12.0
9 wiedemann-steiner syndrome 11.2
10 fetishism 10.5 H2AC18 EED
11 neuropathy, hereditary sensory, type ie 10.5 NSD1 H2AC18 DNMT3A
12 childhood brain stem glioma 10.5 H3-2 H2AC18 EZH2
13 testicular spermatocytic seminoma 10.5 MAGEA4 DNMT3A
14 brain stem glioma 10.5 KDM4C H3-2 EZH2
15 rhabdoid cancer 10.5 KDM4C H2AC18 EZH2
16 loeys-dietz syndrome 1 10.5 KDM4C H3-2 H2AC18
17 mental retardation, x-linked, syndromic, claes-jensen type 10.5 PWWP2B KDM5C KDM4C
18 brain stem cancer 10.5 KDM4C H3-2 H2AC18 EZH2
19 chronic leukemia 10.5 KDM4C H2AC18 DNMT3A
20 cartilage-hair hypoplasia 10.4 H3-2 H2AC18 DNMT3A
21 nut midline carcinoma 10.4 NSD3 KDM4C H2AC18
22 infratentorial cancer 10.4 KDM4C H3-2 H2AC18
23 immunodeficiency-centromeric instability-facial anomalies syndrome 10.4 SUZ12 H3-2 H2AC18 DNMT3A
24 syndromic x-linked intellectual disability siderius type 10.4 KDM5C KDM4C
25 childhood acute myeloid leukemia 10.4 NSD3 NSD1 EZH2 DNMT3A
26 bone marrow cancer 10.4 KDM4C H2AC18 EZH2 DNMT3A
27 retinal cancer 10.4 KDM4C H3-2 H2AC18
28 wilms tumor predisposition 10.4 NSD1 CDKN1C
29 suppression of tumorigenicity 12 10.4 KDM4C H3-2 H2AC18 EZH2
30 meier-gorlin syndrome 1 10.4 KDM4C H2AC18 CDKN1C
31 hyperoxaluria, primary, type i 10.4 KDM4C H3-2 H2AC18 EZH2 DNMT3A
32 carbohydrate metabolic disorder 10.4 KDM4C H3-2 H2AC18 EZH2 DNMT3A
33 primary hyperoxaluria 10.3 KDM4C H3-2 H2AC18 EZH2 DNMT3A
34 ezh2-related overgrowth 10.3
35 alpha thalassemia-x-linked intellectual disability syndrome 10.3 NSD1 KDM5C H3-2 H2AC18 DNMT3A
36 chromosome 16p13.3 deletion syndrome, proximal 10.3 KMT2D KDM4C H3-2 H2AC18 EHMT1
37 peripheral t-cell lymphoma 10.3 KMT2D H2AC18 DNMT3A
38 wolf-hirschhorn syndrome 10.3 SETD2 NSD3 NSD1 H3-2 H2AC18
39 macrocytic anemia 10.3
40 fibrosarcoma 10.3
41 myeloma, multiple 10.3 KMT2D KDM4C H3-2 H2AC18 EZH2
42 alacrima, achalasia, and mental retardation syndrome 10.3
43 alpha-thalassemia 10.3 NSD1 H3-2 H2AC18
44 cerebellar ataxia, deafness, and narcolepsy, autosomal dominant 10.3 H1-4 DNMT3A
45 atherosclerosis susceptibility 10.3
46 intracranial aneurysm 10.3
47 carotid stenosis 10.3
48 pervasive developmental disorder 10.3 KDM5C KDM4C H3-2 H2AC18 EHMT1
49 autosomal dominant non-syndromic intellectual disability 10.2 NSD1 KMT2D KDM5C H2AC18 EZH2 EHMT1
50 bile reflux 10.2
51 eed-related overgrowth 10.2
52 spastic quadriplegia 10.2
53 quadriplegia 10.2
54 spasticity 10.2
55 gastric ulcer 10.2
56 adenoma 10.2
57 kleefstra syndrome 1 10.1 PWWP2B NSD3 NSD1 KDM4C H3-2 H2AC18
58 kleefstra syndrome 10.1 NSD1 KMT2D KDM5C KDM4C H3-2 H2AC18
59 kabuki syndrome 1 10.1 NSD1 KMT2D KDM5C KDM4C H3-2 H2AC18
60 inherited metabolic disorder 10.1 KDM4C H3-2 H2AC18
61 myelodysplastic syndrome 10.1 NSD1 H2AC18 EZH2 DNMT3A CDKN1C
62 hypertelorism 10.1
63 cohen-gibson syndrome 10.1
64 hypertonia 10.1
65 acrocephalopolysyndactyly type iii 10.1
66 coarctation of aorta 10.1
67 pulmonary hypertension, primary, 1 10.1
68 vascular disease 10.1
69 hypogonadism 10.1
70 alopecia 10.1
71 aneurysm 10.1
72 cerebral aneurysms 10.1
73 pulmonary arterial hypertension associated with another disease 10.1
74 chediak-higashi syndrome 10.1
75 branchiootic syndrome 1 10.1
76 allergic hypersensitivity disease 10.1
77 thrombocytopenia 10.1
78 thrombocytosis 10.1
79 mastocytosis 10.1
80 hypereosinophilic syndrome 10.1
81 splenomegaly 10.1
82 otopalatodigital syndrome, type i 10.1 H3-2 H2AC18
83 autism 10.0 SETD2 NSD1 KDM5C KDM4C EHMT1 DNMT3A
84 cleft palate, isolated 10.0
85 ataxia and polyneuropathy, adult-onset 10.0
86 patent ductus arteriosus 1 10.0
87 umbilical hernia 10.0
88 heart septal defect 10.0
89 atrial heart septal defect 10.0
90 neuroblastoma 10.0
91 hypotonia 10.0
92 pectus excavatum 10.0
93 galactorrhea 10.0
94 simpson-golabi-behmel syndrome, type 1 10.0
95 hyperprolactinemia 10.0
96 amenorrhea 10.0
97 cleft lip 10.0
98 autoimmune disease 9.9
99 bladder cancer 9.9
100 hypercholesterolemia, familial, 1 9.9
101 hypertriglyceridemia, familial 9.9
102 systemic lupus erythematosus 9.9
103 osteoporosis 9.9
104 schistosoma mansoni infection, susceptibility/ 9.9
105 helicobacter pylori infection 9.9
106 chudley-mccullough syndrome 9.9
107 juvenile myelomonocytic leukemia 9.9
108 kala-azar 1 9.9
109 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 9.9
110 bone mineral density quantitative trait locus 8 9.9
111 bone mineral density quantitative trait locus 15 9.9
112 microcephaly, epilepsy, and diabetes syndrome 9.9
113 helix syndrome 9.9
114 inflammatory bowel disease 9.9
115 intestinal schistosomiasis 9.9
116 colitis 9.9
117 bone disease 9.9
118 sensorineural hearing loss 9.9
119 rickets 9.9
120 pertussis 9.9
121 gastroparesis 9.9
122 male infertility 9.9
123 diamond-blackfan anemia 9.9
124 osteopetrosis 9.9
125 squamous cell papilloma 9.9
126 schistosomiasis 9.9
127 papilloma 9.9
128 dermatitis 9.9
129 glomerulonephritis 9.9
130 mast cell neoplasm 9.9
131 pulmonary fibrosis 9.9
132 duodenogastric reflux 9.9
133 extracutaneous mastocytoma 9.9
134 immune-complex glomerulonephritis 9.9
135 infertility 9.9
136 hypersplenism 9.9
137 anthrax disease 9.9
138 peptic ulcer disease 9.9
139 lupus erythematosus 9.9
140 leishmaniasis 9.9
141 cutaneous leishmaniasis 9.9
142 stomatitis 9.9
143 allergic encephalomyelitis 9.9
144 ovarian epithelial cancer 9.9
145 cytomegalovirus infection 9.9
146 malignant epithelial tumor of ovary 9.9
147 glomerular disease 9.9
148 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 9.9
149 epicanthus 9.9
150 cryptorchidism, unilateral or bilateral 9.9
151 pierre robin syndrome 9.9
152 astigmatism 9.9
153 leukemia, acute lymphoblastic 9.9
154 chromosome 17q11.2 deletion syndrome, 1.4-mb 9.9
155 nail disorder, nonsyndromic congenital, 9 9.9
156 tatton-brown-rahman syndrome 9.9
157 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 9.9
158 imagawa-matsumoto syndrome 9.9
159 hemophagocytic lymphohistiocytosis 9.9
160 congenital hypothyroidism 9.9
161 autosomal recessive disease 9.9
162 alternating exotropia 9.9
163 exotropia 9.9
164 clubfoot 9.9
165 leukemia 9.9
166 hypothyroidism 9.9
167 blount's disease 9.9
168 endodermal sinus tumor 9.9
169 teratoma 9.9
170 ovarian endodermal sinus tumor 9.9
171 congestive heart failure 9.9
172 myeloid leukemia 9.9
173 neurofibromatosis 9.9
174 learning disability 9.9
175 48,xyyy 9.9
176 gigantism 9.9
177 pachygyria 9.9
178 sacrococcygeal teratoma 9.9
179 dnmt3a overgrowth syndrome 9.9
180 isolated pierre robin sequence 9.9
181 secondary hemophagocytic lymphohistiocytosis 9.9

Graphical network of the top 20 diseases related to Weaver Syndrome:



Diseases related to Weaver Syndrome

Symptoms & Phenotypes for Weaver Syndrome

Human phenotypes related to Weaver Syndrome:

58 31 (showing 89, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 microcephaly 58 31 obligate (100%) Obligate (100%) HP:0000252
2 cleft palate 58 31 obligate (100%) Obligate (100%) HP:0000175
3 narrow mouth 58 31 obligate (100%) Obligate (100%) HP:0000160
4 protruding ear 58 31 obligate (100%) Obligate (100%) HP:0000411
5 intellectual disability, moderate 58 31 obligate (100%) Obligate (100%) HP:0002342
6 decreased body weight 58 31 obligate (100%) Obligate (100%) HP:0004325
7 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
8 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
9 hypertelorism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000316
10 macrotia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000400
11 macrocephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000256
12 spasticity 58 31 hallmark (90%) Very frequent (99-80%) HP:0001257
13 abnormality of the metaphysis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000944
14 retrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000278
15 micrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000347
16 hypoplastic toenails 58 31 hallmark (90%) Very frequent (99-80%) HP:0001800
17 low-set, posteriorly rotated ears 58 31 hallmark (90%) Very frequent (99-80%) HP:0000368
18 long philtrum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000343
19 broad forehead 58 31 hallmark (90%) Very frequent (99-80%) HP:0000337
20 redundant skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0001582
21 hoarse voice 58 31 hallmark (90%) Very frequent (99-80%) HP:0001609
22 tall stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0000098
23 accelerated skeletal maturation 58 31 hallmark (90%) Very frequent (99-80%) HP:0005616
24 abnormally low-pitched voice 58 31 hallmark (90%) Very frequent (99-80%) HP:0010300
25 deep-set nails 58 31 hallmark (90%) Very frequent (99-80%) HP:0001814
26 thin nail 58 31 hallmark (90%) Very frequent (99-80%) HP:0001816
27 abnormal fingernail morphology 31 hallmark (90%) HP:0001231
28 inguinal hernia 58 31 frequent (33%) Frequent (79-30%) HP:0000023
29 joint stiffness 58 31 frequent (33%) Frequent (79-30%) HP:0001387
30 broad thumb 58 31 frequent (33%) Frequent (79-30%) HP:0011304
31 feeding difficulties in infancy 58 31 frequent (33%) Frequent (79-30%) HP:0008872
32 deep philtrum 58 31 frequent (33%) Frequent (79-30%) HP:0002002
33 fine hair 58 31 frequent (33%) Frequent (79-30%) HP:0002213
34 round face 58 31 frequent (33%) Frequent (79-30%) HP:0000311
35 camptodactyly of finger 58 31 frequent (33%) Frequent (79-30%) HP:0100490
36 large hands 58 31 frequent (33%) Frequent (79-30%) HP:0001176
37 broad foot 58 31 frequent (33%) Frequent (79-30%) HP:0001769
38 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
39 intellectual disability, severe 58 31 occasional (7.5%) Occasional (29-5%) HP:0010864
40 cryptorchidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000028
41 talipes equinovarus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001762
42 downslanted palpebral fissures 58 31 occasional (7.5%) Occasional (29-5%) HP:0000494
43 sandal gap 58 31 occasional (7.5%) Occasional (29-5%) HP:0001852
44 joint hyperflexibility 58 31 occasional (7.5%) Occasional (29-5%) HP:0005692
45 hypoplasia of penis 58 31 occasional (7.5%) Occasional (29-5%) HP:0008736
46 pes cavus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001761
47 finger syndactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0006101
48 abnormality of cardiovascular system morphology 31 occasional (7.5%) HP:0030680
49 hypertonia 58 31 Very frequent (99-80%) HP:0001276
50 depressed nasal bridge 31 HP:0005280
51 behavioral abnormality 31 HP:0000708
52 muscular hypotonia 31 HP:0001252
53 kyphosis 31 HP:0002808
54 mandibular prognathia 31 HP:0000303
55 delayed speech and language development 31 HP:0000750
56 umbilical hernia 31 HP:0001537
57 malformation of the heart and great vessels 58 Occasional (29-5%)
58 slurred speech 31 HP:0001350
59 strabismus 31 HP:0000486
60 metatarsus adductus 31 HP:0001840
61 epicanthus 31 HP:0000286
62 abnormality of the fingernails 58 Very frequent (99-80%)
63 inverted nipples 31 HP:0003186
64 dysarthria 31 HP:0001260
65 absent septum pellucidum 31 HP:0001331
66 coxa valga 31 HP:0002673
67 diastasis recti 31 HP:0001540
68 sparse hair 31 HP:0008070
69 cutis laxa 31 HP:0000973
70 generalized hypotonia 31 HP:0001290
71 radial deviation of finger 31 HP:0009466
72 camptodactyly 31 HP:0012385
73 short ribs 31 HP:0000773
74 hypoplastic iliac wing 31 HP:0002866
75 clinodactyly 31 HP:0030084
76 prominent fingertip pads 31 HP:0001212
77 limited elbow extension 31 HP:0001377
78 hydrocele testis 31 HP:0000034
79 joint contracture of the hand 31 HP:0009473
80 overlapping toe 31 HP:0001845
81 limited knee extension 31 HP:0003066
82 short fourth metatarsal 31 HP:0004689
83 dilation of lateral ventricles 31 HP:0006956
84 calcaneovalgus deformity 31 HP:0001848
85 dysharmonic bone age 31 HP:0200000
86 seizure 31 HP:0001250
87 dimple chin 31 HP:0010751
88 flared femoral metaphysis 31 HP:0002834
89 flared humeral metaphysis 31 HP:0003911

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Nose:
depressed nasal bridge

Head And Neck Eyes:
hypertelorism
strabismus
downslanting palpebral fissures
epicanthal folds

Head And Neck Head:
macrocephaly
flattened occiput
large bifrontal diameter

Neurologic Central Nervous System:
hypertonia
spasticity
slurred speech
absent septum pellucidum
hypotonia
more
Genitourinary Internal Genitalia Male:
cryptorchidism

Chest Breasts:
inverted nipples

Skeletal Hands:
large hands
camptodactyly
clinodactyly
prominent fingertip pads
broad thumbs
more
Skeletal Limbs:
limited elbow extension
limited knee extension
flared metaphyses (especially distal femora and humeri)

Head And Neck Ears:
large ears

Skin Nails Hair Nails:
thin, deep-set nails

Growth Height:
increased prenatal/postnatal length

Voice:
coarse, low-pitched voice

Genitourinary External Genitalia Male:
inguinal hernia
hydrocele

Skeletal Spine:
scoliosis
kyphosis

Abdomen External Features:
umbilical hernia
diastasis recti
excessive appetite

Skeletal Feet:
metatarsus adductus
talipes equinovarus
pes cavus
clinodactyly
calcaneovalgus
more
Head And Neck Face:
retrognathia
long philtrum
round face in infancy
prominent chin crease

Skeletal Pelvis:
coxa valga
small iliac wings

Chest Ribs Sternum Clavicles And Scapulae:
short ribs

Skeletal:
advanced bone age
dysharmonic bone age (carpals more advanced than phalanges)

Skin Nails Hair Hair:
thin hair

Skin Nails Hair Skin:
loose skin
increased pigmented nevi

Growth Weight:
increased prenatal/postnatal weight
weight more increased than height

Clinical features from OMIM:

277590

UMLS symptoms related to Weaver Syndrome:


muscle spasticity

MGI Mouse Phenotypes related to Weaver Syndrome:

45 (showing 3, show less)
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 9.81 CUL1 DNMT3A EHMT1 EZH2 KDM5C KMT2D
2 growth/size/body region MP:0005378 9.73 CUL1 DNMT3A EED EHMT1 EZH2 KDM4C
3 mortality/aging MP:0010768 9.44 CUL1 DNMT3A EHMT1 EZH2 KDM4C KDM5C

Drugs & Therapeutics for Weaver Syndrome

Search Clinical Trials , NIH Clinical Center for Weaver Syndrome

Cochrane evidence based reviews: weaver-like syndrome

Genetic Tests for Weaver Syndrome

Genetic tests related to Weaver Syndrome:

# Genetic test Affiliating Genes
1 Weaver Syndrome 29 EZH2

Anatomical Context for Weaver Syndrome

MalaCards organs/tissues related to Weaver Syndrome:

40
Bone, Skin, Brain, Eye, Heart, Testis, Myeloid

Publications for Weaver Syndrome

Articles related to Weaver Syndrome:

(showing 119, show less)
# Title Authors PMID Year
1
Mutations in EZH2 cause Weaver syndrome. 61 56 6
22177091 2012
2
A new overgrowth syndrome with accelerated skeletal maturation, unusual facies, and camptodactyly. 6 56
4366187 1974
3
EZH2-Related Overgrowth 6 61
23865096 2013
4
Acute lymphoblastic leukemia in Weaver syndrome. 56 61
20101679 2010
5
Cervical spine anomalies and tumors in Weaver syndrome. 56 61
11146472 2000
6
Pachygyria in Weaver syndrome. 61 56
10494098 1999
7
A probable case of familial Weaver syndrome associated with neoplasia. 61 56
10507738 1999
8
Weaver syndrome: autosomal dominant inheritance of the disorder. 56 61
9781912 1998
9
The syndromes of Sotos and Weaver: reports and review. 56 61
9781911 1998
10
Autosomal dominant inheritance of Weaver syndrome. 61 56
9152841 1997
11
Twins and their mildly affected mother with Weaver syndrome. 61 56
8131308 1993
12
Weaver syndrome. 56 61
1583661 1992
13
A new autosomal recessive disorder resembling Weaver syndrome. 61 56
2596508 1989
14
Weaver syndrome: the changing phenotype in an adult. 56 61
2750780 1989
15
Further delineation of Weaver syndrome. 61 56
2418189 1986
16
A Weaver-like syndrome with endocrinological abnormalities in a boy and his mother. 61 56
4064364 1985
17
Weaver's syndrome--primordial excessive growth velocity. A case report. 56 61
3983749 1985
18
Weaver syndrome: expanded natural history. 61 56
4080734 1985
19
Siblings with Weaver syndrome. 61 56
6834195 1983
20
The Weaver-Smith syndrome. 56 61
7441429 1980
21
Novel homo- and hemizygous mutations in EZH2 in myeloid malignancies. 56
20724984 2010
22
Growing interest in overgrowth. 56
9613346 1998
23
Update on the Marshall-Smith-Weaver controversy. 56
3993681 1985
24
Accelerated bone maturation syndrome of the Weaver type. 56
7318847 1981
25
Spectrum of NSD1 gene mutations in southern Chinese patients with Sotos syndrome. 61 54
16232326 2005
26
Mutation analysis of the NSD1 gene in a group of 59 patients with congenital overgrowth. 61 54
15742365 2005
27
Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypes. 61 54
14571271 2003
28
Spectrum of NSD1 mutations in Sotos and Weaver syndromes. 61 54
12807965 2003
29
NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes. 54 61
12464997 2003
30
DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes. 61
32243864 2020
31
PRC2-complex related dysfunction in overgrowth syndromes: A review of EZH2, EED, and SUZ12 and their syndromic phenotypes. 61
31724824 2019
32
Rare SUZ12 variants commonly cause an overgrowth phenotype. 61
31736240 2019
33
Three additional patients with EED-associated overgrowth: potential mutation hotspots identified? 61
30858506 2019
34
Histone H3 tail binds a unique sensing pocket in EZH2 to activate the PRC2 methyltransferase. 61
30967505 2019
35
EED and EZH2 constitutive variants: A study to expand the Cohen-Gibson syndrome phenotype and contrast it with Weaver syndrome. 61
30793471 2019
36
Screening genetic diseases prevalence in Braunvieh cattle. 61
30014197 2019
37
Correction: Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height. 61
30613354 2018
38
Novel SUZ12 mutations in Weaver-like syndrome. 61
30019515 2018
39
Further delineation of Malan syndrome. 61
29897170 2018
40
Co-occurrence of a maternally inherited DNMT3A duplication and a paternally inherited pathogenic variant in EZH2 in a child with growth retardation and severe short stature: atypical Weaver syndrome or evidence of a DNMT3A dosage effect? 61
29802153 2018
41
Loss of maternal EED results in postnatal overgrowth. 61
30005706 2018
42
Allosteric Activation Dictates PRC2 Activity Independent of Its Recruitment to Chromatin. 61
29681499 2018
43
Ezh2 Mutations Found in the Weaver Overgrowth Syndrome Cause a Partial Loss of H3K27 Histone Methyltransferase Activity. 61
29244146 2018
44
Novel de novo mutation affecting two adjacent aminoacids in the EED gene in a patient with Weaver syndrome. 61
29410511 2018
45
High Yield of Pathogenic Germline Mutations Causative or Likely Causative of the Cancer Phenotype in Selected Children with Cancer. 61
29351919 2018
46
Clinically suspected anaphylaxis induced by sugammadex in a patient with Weaver syndrome undergoing restrictive mammoplasty surgery: A case report with the literature review. 61
29505006 2018
47
The phenotype of EZH2 haploinsufficiency-1.2-Mb deletion at 7q36.1 in a child with tall stature and intellectual disability. 61
28696078 2017
48
Mutations in genes encoding polycomb repressive complex 2 subunits cause Weaver syndrome. 61
28229514 2017
49
Novel EED mutation in patient with Weaver syndrome. 61
27868325 2017
50
EZH1 and EZH2 promote skeletal growth by repressing inhibitors of chondrocyte proliferation and hypertrophy. 61
27897169 2016
51
Phenotypic and genetic effects of recessive haplotypes on yield, longevity, and fertility. 61
27394947 2016
52
EZH2 mutation in an adolescent with Weaver syndrome developing acute myeloid leukemia and secondary hemophagocytic lymphohistiocytosis. 61
26762561 2016
53
Weaver Syndrome-Associated EZH2 Protein Variants Show Impaired Histone Methyltransferase Function In Vitro. 61
26694085 2016
54
Confirmation of a non-synonymous SNP in PNPLA8 as a candidate causal mutation for Weaver syndrome in Brown Swiss cattle. 61
26992691 2016
55
Anesthetic management of a patient with Weaver syndrome undergoing emergency evacuation of extra-dural hematoma: A case report and review of the literature. 61
26955318 2016
56
NSD1 mutations generate a genome-wide DNA methylation signature. 61
26690673 2015
57
Oral, radiographical, and clinical findings in Weaver syndrome: a case report. 61
26084782 2015
58
A novel mutation in EED associated with overgrowth. 61
25787343 2015
59
Mutations in SETD2 cause a novel overgrowth condition. 61
24852293 2014
60
Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype. 61
24214728 2013
61
The NSD1 and EZH2 overgrowth genes, similarities and differences. 61
23592277 2013
62
Weaver syndrome and defective cortical development: a rare association. 61
23239504 2013
63
Fine mapping for Weaver syndrome in Brown Swiss cattle and the identification of 41 concordant mutations across NRCAM, PNPLA8 and CTTNBP2. 61
23527149 2013
64
A patient with the Weaver syndrome in Puerto Rico: a case report. 61
22788078 2012
65
Histone modification defects in developmental disorders and cancer. 61
22287508 2012
66
Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height. 61
22190405 2011
67
An unusual splice defect in the mitofusin 2 gene (MFN2) is associated with degenerative axonopathy in Tyrolean Grey cattle. 61
21526202 2011
68
Weaver syndrome associated with bilateral congenital hip and unilateral subtalar dislocation. 61
20981173 2010
69
Array-based comparative genomic hybridization identifies a high frequency of copy number variations in patients with syndromic overgrowth. 61
19844265 2010
70
Weaver syndrome: A report of a rare genetic syndrome. 61
20407649 2009
71
Weaver syndrome and neuroblastoma. 61
19011474 2008
72
Treatment of macroglossia in a child with Weaver syndrome. 61
18595662 2008
73
Specific entities affecting the craniocervical region: syndromes affecting the craniocervical junction. 61
18369644 2008
74
Sotos syndrome. 61
17825104 2007
75
Camptodactyly in Sotos syndrome. 61
21957350 2007
76
The upper airway in Weaver syndrome. 61
16176320 2005
77
Clinical and molecular overlap in overgrowth syndromes. 61
16010674 2005
78
Hormonal and genetical assessment of a Japanese girl with weaver syndrome. 61
24790293 2004
79
Mental deficiency, alterations in performance, and CNS abnormalities in overgrowth syndromes. 61
12561058 2003
80
Review and meta-analysis of systematic searches for uniparental disomy (UPD) other than UPD 15. 61
12210294 2002
81
The difficulty of height prediction in Weaver syndrome. 61
11826875 2002
82
Weaver syndrome with neuroblastoma and cardiovascular anomalies. 61
11241499 2001
83
[Weaver syndrome(Weaver-Smith syndrome)]. 61
11529033 2001
84
Excessive growth in a girl with Weaver syndrome. 61
11085195 2000
85
[Weaver syndrome]. 61
11057220 2000
86
Prenatal diagnosis and follow-up of 14 cases of unilateral ventriculomegaly. 61
10623992 1999
87
Altered development of dopaminergic cells in the retina of weaver mice. 61
10464361 1999
88
A case with Weaver syndrome operated for congenital cardiac defect. 61
10441697 1999
89
Familial neurofibromatosis type 1 associated with an overgrowth syndrome resembling Weaver syndrome. 61
9598729 1998
90
[Weaver syndrome. 1st case reported in Venezuela]. 61
9235073 1997
91
Propositus with Weaver syndrome and his mildly-affected mother: implication of nontraditional inheritance? 61
9240753 1996
92
Novel findings in a patient with Weaver or a Weaver-like syndrome. 61
8725789 1996
93
[Bovine progressive degenerative myeloencephalopathy ("Weaver syndrome") in brown Swiss x Braunvieh cattle: reproductive occurrences, results of embryo transfer]. 61
7717957 1994
94
Spinal dysmyelination in new-born brown Swiss x Braunvieh calves. 61
8284954 1993
95
Histochemical and morphometric studies of peripheral muscle in bovine progressive degenerative myeloencephalopathy of brown Swiss cattle. 61
1496861 1992
96
Weaver syndrome: a case without early overgrowth and review of the literature. 61
1956726 1991
97
Weaver syndrome in two Japanese children. 61
1785638 1991
98
Ultrastructural changes in Brown Swiss cattle affected with bovine progressive degenerative myeloencephalopathy (Weaver syndrome). 61
2127493 1990
99
A Japanese male infant with the Weaver syndrome. 61
2266602 1990
100
[Weaver's syndrome. Apropos of a new case]. 61
2369050 1990
101
Weaver syndrome and instability of the upper cervical spine. 61
2319408 1990
102
A case of Marshall-Smith or Weaver syndrome. 61
2593121 1989
103
[Weaver-Smith syndrome in a girl]. 61
2734072 1989
104
Retarded skeletal maturation in Weaver syndrome. 61
3207030 1988
105
Bovine progressive degenerative myeloencephalopathy (weaver syndrome) in brown swiss cattle in Canada: a literature review and case report. 61
17423028 1988
106
A girl with the Weaver syndrome. 61
3585940 1987
107
[The Weaver syndrome in cattle. Clinical, biochemical and pathologico-anatomic studies in a Braunvieh/Brown Swiss cow with bovine progressive degenerative myeloencephalopathy]. 61
3617038 1987
108
Ultrastructural alterations of motor cortex synaptic junctions in Brown Swiss cattle with weaver syndrome. 61
4037501 1985
109
Weaver syndrome with pes cavus. 61
4025398 1985
110
[Spasticity of the lower limbs and the Weaver-Smith syndrome]. 61
4080504 1985
111
Weaver-Smith syndrome. A case study with long-term follow-up. 61
6209982 1984
112
[Weaver syndrome. Apropos of a case]. 61
6524773 1984
113
A Weaver-like syndrome in a Japanese boy. 61
6705243 1984
114
[Acceleration of bone maturation and dysmorphic syndrome in 2 siblings (Marshall-Weaver syndrome)]. 61
6674414 1983
115
The Weaver syndrome in a girl. 61
6641769 1983
116
[Marshall-Smith syndrome. Apropos of a personal case]. 61
6346981 1983
117
The Weaver syndrome: a rare type of primordial overgrowth. 61
7318839 1981
118
The syndromes of Marshall and Weaver. 61
7401127 1980
119
Weaver syndrome in Brown Swiss cattle: clinical signs & pathology. 61
4488646 1973

Variations for Weaver Syndrome

ClinVar genetic disease variations for Weaver Syndrome:

6 (showing 215, show less) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 EZH2 EZH2, 3-BP DEL, NT457deletion Pathogenic 30198
2 EZH2 NM_004456.4(EZH2):c.2080C>T (p.His694Tyr)SNV Pathogenic 30199 rs193921147 7:148506432-148506432 7:148809340-148809340
3 EZH2 NM_004456.4(EZH2):c.394C>T (p.Pro132Ser)SNV Pathogenic 30200 rs193921148 7:148526910-148526910 7:148829818-148829818
4 EZH2 NM_004456.4(EZH2):c.2044G>A (p.Ala682Thr)SNV Pathogenic 65674 rs397515547 7:148506468-148506468 7:148809376-148809376
5 EZH2 NM_004456.4(EZH2):c.2233G>A (p.Glu745Lys)SNV Pathogenic 65675 rs397515548 7:148504761-148504761 7:148807669-148807669
6 EZH2 NM_004456.4(EZH2):c.2050C>T (p.Arg684Cys)SNV Pathogenic 158582 rs587783626 7:148506462-148506462 7:148809370-148809370
7 EZH2 NM_004456.4(EZH2):c.1876G>A (p.Val626Met)SNV Pathogenic 158579 rs587783625 7:148508788-148508788 7:148811696-148811696
8 EZH2 NM_004456.4(EZH2):c.458A>G (p.Tyr153Cys)SNV Pathogenic 208085 rs797044844 7:148526846-148526846 7:148829754-148829754
9 EZH2 NM_152998.3(EZH2):c.149T>C (p.Leu50Ser)SNV Pathogenic 208166 rs775407864 7:148543659-148543659 7:148846567-148846567
10 EZH2 NM_004456.4(EZH2):c.2187dup (p.Asp730Ter)duplication Pathogenic 210967 rs797045568 7:148506170-148506171 7:148809078-148809079
11 EZH2 NM_004456.4(EZH2):c.2236A>G (p.Arg746Gly)SNV Likely pathogenic 158584 rs587783627 7:148504758-148504758 7:148807666-148807666
12 EZH2 NM_004456.4(EZH2):c.1990G>T (p.Asp664Tyr)SNV Likely pathogenic 411683 rs1060503430 7:148507464-148507464 7:148810372-148810372
13 EZH2 NM_004456.4(EZH2):c.2213C>A (p.Ala738Asp)SNV Likely pathogenic 430846 rs1131692184 7:148504781-148504781 7:148807689-148807689
14 EZH2 NM_004456.4(EZH2):c.2187T>G (p.Phe729Leu)SNV Likely pathogenic 648972 7:148506171-148506171 7:148809079-148809079
15 EZH2 NM_004456.4(EZH2):c.2132A>T (p.His711Leu)SNV Likely pathogenic 640527 7:148506226-148506226 7:148809134-148809134
16 EZH2 NM_004456.4(EZH2):c.2000T>C (p.Met667Thr)SNV Likely pathogenic 650242 7:148507454-148507454 7:148810362-148810362
17 EZH2 NM_004456.4(EZH2):c.2218_2220dup (p.Lys740dup)duplication Likely pathogenic 577229 rs1563181659 7:148504773-148504774 7:148807681-148807682
18 EZH2 NM_004456.5(EZH2):c.2196-10_2197dupduplication Likely pathogenic 643660 7:148504796-148504797 7:148807704-148807705
19 EZH2 NM_004456.4(EZH2):c.165C>G (p.Ile55Met)SNV Conflicting interpretations of pathogenicity 411685 rs199645805 7:148543643-148543643 7:148846551-148846551
20 EZH2 NM_004456.4(EZH2):c.638G>A (p.Arg213His)SNV Conflicting interpretations of pathogenicity 449269 rs377467108 7:148524346-148524346 7:148827254-148827254
21 NSD1 NM_022455.4(NSD1):c.3394G>A (p.Gly1132Arg)SNV Conflicting interpretations of pathogenicity 197851 rs570278983 5:176638794-176638794 5:177211793-177211793
22 NSD1 NM_022455.4(NSD1):c.-8G>ASNV Conflicting interpretations of pathogenicity 211715 rs199639292 5:176562097-176562097 5:177135096-177135096
23 NSD1 NM_022455.4(NSD1):c.4303-4A>GSNV Conflicting interpretations of pathogenicity 199166 rs775759198 5:176671192-176671192 5:177244191-177244191
24 NSD1 NM_022455.4(NSD1):c.4605C>T (p.Arg1535=)SNV Conflicting interpretations of pathogenicity 159339 rs140229717 5:176675289-176675289 5:177248288-177248288
25 NSD1 NM_022455.4(NSD1):c.1558G>A (p.Ala520Thr)SNV Conflicting interpretations of pathogenicity 159269 rs559617787 5:176636958-176636958 5:177209957-177209957
26 NSD1 NM_022455.4(NSD1):c.3803G>A (p.Arg1268Gln)SNV Conflicting interpretations of pathogenicity 159314 rs368706736 5:176662828-176662828 5:177235827-177235827
27 NSD1 NM_022455.4(NSD1):c.4307A>G (p.Tyr1436Cys)SNV Conflicting interpretations of pathogenicity 352888 rs574641900 5:176671200-176671200 5:177244199-177244199
28 NSD1 NM_022455.4(NSD1):c.7025C>T (p.Ser2342Leu)SNV Conflicting interpretations of pathogenicity 352891 rs201609442 5:176721394-176721394 5:177294393-177294393
29 NSD1 NM_022455.4(NSD1):c.5007C>T (p.His1669=)SNV Conflicting interpretations of pathogenicity 352889 rs146414176 5:176687030-176687030 5:177260029-177260029
30 EZH2 NM_004456.4(EZH2):c.1506-4G>ASNV Uncertain significance 359280 rs868151227 7:148512642-148512642 7:148815550-148815550
31 EZH2 NM_004456.4(EZH2):c.87C>T (p.Leu29=)SNV Uncertain significance 359289 rs773579841 7:148544304-148544304 7:148847212-148847212
32 EZH2 NM_004456.4(EZH2):c.1555T>C (p.Ser519Pro)SNV Uncertain significance 359279 rs747009766 7:148512123-148512123 7:148815031-148815031
33 EZH2 NM_004456.4(EZH2):c.-26G>ASNV Uncertain significance 359290 rs886062081 7:148581274-148581274 7:148884182-148884182
34 EZH2 NM_004456.4(EZH2):c.-138C>TSNV Uncertain significance 359293 rs550913824 7:148581386-148581386 7:148884294-148884294
35 EZH2 NM_004456.4(EZH2):c.1383G>C (p.Arg461Ser)SNV Uncertain significance 359281 rs886062080 7:148514341-148514341 7:148817249-148817249
36 EZH2 NM_004456.4(EZH2):c.-32A>CSNV Uncertain significance 359291 rs886062082 7:148581280-148581280 7:148884188-148884188
37 EZH2 NM_004456.4(EZH2):c.625+12T>GSNV Uncertain significance 359284 rs369310375 7:148525820-148525820 7:148828728-148828728
38 NSD1 NM_022455.4(NSD1):c.*2281T>GSNV Uncertain significance 352915 rs886060451 5:176724741-176724741 5:177297740-177297740
39 NSD1 NM_022455.4(NSD1):c.*3340T>CSNV Uncertain significance 352923 rs770565468 5:176725800-176725800 5:177298799-177298799
40 NSD1 NM_022455.4(NSD1):c.*3805G>ASNV Uncertain significance 352926 rs886060454 5:176726265-176726265 5:177299264-177299264
41 NSD1 NM_022455.4(NSD1):c.*839dupduplication Uncertain significance 352900 rs886060447 5:176723297-176723298 5:177296296-177296297
42 NSD1 NM_022455.4(NSD1):c.*946C>TSNV Uncertain significance 352901 rs370059100 5:176723406-176723406 5:177296405-177296405
43 NSD1 NM_022455.4(NSD1):c.*1014dupduplication Uncertain significance 352902 rs886060448 5:176723473-176723474 5:177296472-177296473
44 NSD1 NM_022455.4(NSD1):c.*1606G>TSNV Uncertain significance 352910 rs886060450 5:176724066-176724066 5:177297065-177297065
45 NSD1 NM_022455.4(NSD1):c.*2330A>GSNV Uncertain significance 352916 rs886060452 5:176724790-176724790 5:177297789-177297789
46 NSD1 NM_022455.4(NSD1):c.*4539A>GSNV Uncertain significance 352939 rs886060457 5:176726999-176726999 5:177299998-177299998
47 NSD1 NM_022455.4(NSD1):c.*3861G>CSNV Uncertain significance 352928 rs886060455 5:176726321-176726321 5:177299320-177299320
48 NSD1 NM_022455.4(NSD1):c.*3920C>TSNV Uncertain significance 352929 rs767561948 5:176726380-176726380 5:177299379-177299379
49 NSD1 NM_022455.4(NSD1):c.*4523C>TSNV Uncertain significance 352938 rs886060456 5:176726983-176726983 5:177299982-177299982
50 NSD1 NM_022455.4(NSD1):c.*4601C>TSNV Uncertain significance 352947 rs886060463 5:176727061-176727061 5:177300060-177300060
51 NSD1 NM_022455.4(NSD1):c.2725A>G (p.Thr909Ala)SNV Uncertain significance 352879 rs886060440 5:176638125-176638125 5:177211124-177211124
52 NSD1 NM_022455.4(NSD1):c.3657A>G (p.Thr1219=)SNV Uncertain significance 352885 rs886060442 5:176639057-176639057 5:177212056-177212056
53 NSD1 NM_022455.4(NSD1):c.*4596deldeletion Uncertain significance 352941 rs886060459 5:176727056-176727056 5:177300055-177300055
54 NSD1 NM_022455.4(NSD1):c.*4604C>TSNV Uncertain significance 352948 rs886060464 5:176727064-176727064 5:177300063-177300063
55 NSD1 NM_022455.4(NSD1):c.*4609_*4611deldeletion Uncertain significance 352946 rs60995782 5:176727059-176727061 5:177300058-177300060
56 NSD1 NM_022455.4(NSD1):c.*4610_*4611deldeletion Uncertain significance 352945 rs60995782 5:176727059-176727060 5:177300058-177300059
57 NSD1 NM_022455.4(NSD1):c.*4610_*4611dupduplication Uncertain significance 352944 rs60995782 5:176727058-176727059 5:177300057-177300058
58 NSD1 NM_022455.4(NSD1):c.*4611dupduplication Uncertain significance 352942 rs60995782 5:176727058-176727059 5:177300057-177300058
59 NSD1 NM_022455.4(NSD1):c.*565deldeletion Uncertain significance 352898 rs886060446 5:176723025-176723025 5:177296024-177296024
60 NSD1 NM_022455.4(NSD1):c.6990C>T (p.Ser2330=)SNV Uncertain significance 352890 rs200462804 5:176721359-176721359 5:177294358-177294358
61 NSD1 NM_022455.4(NSD1):c.3133C>T (p.Arg1045Cys)SNV Uncertain significance 352880 rs377148087 5:176638533-176638533 5:177211532-177211532
62 NSD1 NM_022455.4(NSD1):c.*1177G>ASNV Uncertain significance 352905 rs758560899 5:176723637-176723637 5:177296636-177296636
63 NSD1 NM_022455.4(NSD1):c.*1717G>ASNV Uncertain significance 352911 rs145418928 5:176724177-176724177 5:177297176-177297176
64 NSD1 NM_022455.4(NSD1):c.3931C>T (p.Arg1311Cys)SNV Uncertain significance 352886 rs886060443 5:176665247-176665247 5:177238246-177238246
65 NSD1 NM_022455.4(NSD1):c.*4033G>ASNV Uncertain significance 352931 rs547553351 5:176726493-176726493 5:177299492-177299492
66 NSD1 NM_022455.4(NSD1):c.*4612deldeletion Uncertain significance 352949 rs886060465 5:176727072-176727072 5:177300071-177300071
67 NSD1 NM_022455.4(NSD1):c.1063+10dupduplication Uncertain significance 352873 rs762416925 5:176619029-176619030 5:177192028-177192029
68 NSD1 NM_022455.4(NSD1):c.2208T>C (p.Ser736=)SNV Uncertain significance 352876 rs766816290 5:176637608-176637608 5:177210607-177210607
69 NSD1 NM_022455.4(NSD1):c.3502A>T (p.Thr1168Ser)SNV Uncertain significance 352882 rs766742277 5:176638902-176638902 5:177211901-177211901
70 NSD1 NM_022455.4(NSD1):c.4187C>T (p.Thr1396Met)SNV Uncertain significance 352887 rs747298351 5:176665503-176665503 5:177238502-177238502
71 NSD1 NM_022455.4(NSD1):c.*1421C>ASNV Uncertain significance 352907 rs886060449 5:176723881-176723881 5:177296880-177296880
72 EZH2 NM_152998.3(EZH2):c.-73_-71GCG[7]short repeat Uncertain significance 359292 rs886062083 7:148581303-148581304 7:148884211-148884212
73 NSD1 NM_022455.4(NSD1):c.376A>G (p.Met126Val)SNV Uncertain significance 352870 rs886060438 5:176562480-176562480 5:177135479-177135479
74 NSD1 NM_022455.4(NSD1):c.658G>T (p.Gly220Cys)SNV Uncertain significance 352871 rs755449099 5:176562762-176562762 5:177135761-177135761
75 NSD1 NM_022455.4(NSD1):c.2194G>T (p.Asp732Tyr)SNV Uncertain significance 352875 rs151111670 5:176637594-176637594 5:177210593-177210593
76 NSD1 NM_022455.4(NSD1):c.2251C>G (p.Leu751Val)SNV Uncertain significance 352877 rs775181583 5:176637651-176637651 5:177210650-177210650
77 NSD1 NM_022455.4(NSD1):c.3397A>G (p.Lys1133Glu)SNV Uncertain significance 352881 rs886060441 5:176638797-176638797 5:177211796-177211796
78 NSD1 NM_172349.2(NSD1):c.*216_*219CCAA[1]short repeat Uncertain significance 352895 rs886060444 5:176722676-176722679 5:177295675-177295678
79 NSD1 NM_022455.4(NSD1):c.*400C>TSNV Uncertain significance 352896 rs886060445 5:176722860-176722860 5:177295859-177295859
80 EZH2 NM_004456.4(EZH2):c.1884C>G (p.Gly628=)SNV Uncertain significance 158580 rs61732846 7:148508780-148508780 7:148811688-148811688
81 NSD1 NM_022455.4(NSD1):c.2266A>G (p.Asn756Asp)SNV Uncertain significance 281484 rs142657029 5:176637666-176637666 5:177210665-177210665
82 NSD1 NM_022455.4(NSD1):c.-134C>TSNV Uncertain significance 352867 rs886060435 5:176560837-176560837 5:177133836-177133836
83 NSD1 NM_022455.4(NSD1):c.-65A>TSNV Uncertain significance 352868 rs886060436 5:176560906-176560906 5:177133905-177133905
84 NSD1 NM_022455.4(NSD1):c.-33G>TSNV Uncertain significance 352869 rs886060437 5:176560938-176560938 5:177133937-177133937
85 NSD1 NM_022455.4(NSD1):c.1035G>A (p.Pro345=)SNV Uncertain significance 352872 rs776701573 5:176618992-176618992 5:177191991-177191991
86 EZH2 NM_004456.4(EZH2):c.2110+9C>GSNV Uncertain significance 459202 rs768904493 7:148506393-148506393 7:148809301-148809301
87 EZH2 NM_004456.4(EZH2):c.958C>G (p.Leu320Val)SNV Uncertain significance 459205 rs6954744 7:148516729-148516729 7:148819637-148819637
88 EZH2 NM_152998.3(EZH2):c.429_431TGA[2] (p.Asp150del)short repeat Uncertain significance 459203 rs766699965 7:148525903-148525905 7:148828811-148828813
89 EZH2 NM_004456.4(EZH2):c.1696C>A (p.Arg566Ser)SNV Uncertain significance 459200 rs1554486440 7:148511206-148511206 7:148814114-148814114
90 EZH2 NM_004456.4(EZH2):c.1474A>T (p.Thr492Ser)SNV Uncertain significance 411684 rs770006533 7:148513807-148513807 7:148816715-148816715
91 EZH2 NM_004456.4(EZH2):c.907+5G>ASNV Uncertain significance 449215 rs368128494 7:148523541-148523541 7:148826449-148826449
92 EZH2 NM_004456.4(EZH2):c.1087C>T (p.Leu363Phe)SNV Uncertain significance 578272 rs781431240 7:148515122-148515122 7:148818030-148818030
93 EZH2 NM_004456.4(EZH2):c.1198_1200del (p.Lys400del)deletion Uncertain significance 576972 rs780357774 7:148515009-148515011 7:148817917-148817919
94 EZH2 NM_004456.4(EZH2):c.1419G>T (p.Glu473Asp)SNV Uncertain significance 582836 rs1190049532 7:148513862-148513862 7:148816770-148816770
95 SUZ12 NM_015355.4(SUZ12):c.1797A>C (p.Gln599His)SNV Uncertain significance 590939 rs1567840381 17:30323819-30323819 17:31996800-31996800
96 EZH2 NM_004456.4(EZH2):c.2234A>G (p.Glu745Gly)SNV Uncertain significance 636330 7:148504760-148504760 7:148807668-148807668
97 EZH2 NM_004456.4(EZH2):c.1682G>T (p.Arg561Leu)SNV Uncertain significance 663016 7:148511220-148511220 7:148814128-148814128
98 EZH2 NM_004456.4(EZH2):c.623A>G (p.Asp208Gly)SNV Uncertain significance 642027 7:148525834-148525834 7:148828742-148828742
99 EZH2 NM_004456.4(EZH2):c.562G>A (p.Asp188Asn)SNV Uncertain significance 654557 7:148525895-148525895 7:148828803-148828803
100 EZH2 NM_004456.4(EZH2):c.118A>G (p.Ser40Gly)SNV Uncertain significance 661065 7:148543690-148543690 7:148846598-148846598
101 EZH2 NM_004456.4(EZH2):c.2196-2A>GSNV Uncertain significance 655635 7:148504800-148504800 7:148807708-148807708
102 EZH2 NM_004456.4(EZH2):c.587G>C (p.Arg196Thr)SNV Uncertain significance 424432 rs1051056437 7:148525870-148525870 7:148828778-148828778
103 EZH2 NM_004456.4(EZH2):c.1178C>T (p.Thr393Met)SNV Uncertain significance 528797 rs1200905474 7:148515031-148515031 7:148817939-148817939
104 EZH2 NC_000007.14:g.(?_148807626)_(148819707_?)dupduplication Uncertain significance 830898 7:148504718-148516799
105 EZH2 NM_004456.5(EZH2):c.1947G>A (p.Glu649=)SNV Uncertain significance 842275 7:148508717-148508717 7:148811625-148811625
106 EZH2 NM_004456.5(EZH2):c.1330A>G (p.Met444Val)SNV Uncertain significance 861828 7:148514394-148514394 7:148817302-148817302
107 EZH2 NM_004456.5(EZH2):c.232C>T (p.Arg78Cys)SNV Uncertain significance 846780 7:148543576-148543576 7:148846484-148846484
108 EZH2 NM_004456.4(EZH2):c.965A>G (p.Asn322Ser)SNV Uncertain significance 134226 rs151023145 7:148516722-148516722 7:148819630-148819630
109 EZH2 NM_004456.5(EZH2):c.1786G>A (p.Ala596Thr)SNV Likely benign 833800 7:148511116-148511116 7:148814024-148814024
110 EZH2 NM_004456.5(EZH2):c.1000-5C>TSNV Likely benign 695945 7:148515214-148515214 7:148818122-148818122
111 EZH2 NM_004456.5(EZH2):c.2172C>T (p.Gly724=)SNV Likely benign 699362 7:148506186-148506186 7:148809094-148809094
112 EZH2 NM_004456.5(EZH2):c.1983A>G (p.Lys661=)SNV Likely benign 698380 7:148507471-148507471 7:148810379-148810379
113 EZH2 NM_004456.5(EZH2):c.1905T>C (p.Asp635=)SNV Likely benign 697798 7:148508759-148508759 7:148811667-148811667
114 EZH2 NM_004456.5(EZH2):c.1302T>C (p.Asn434=)SNV Likely benign 698211 7:148514422-148514422 7:148817330-148817330
115 EZH2 NM_004456.5(EZH2):c.1179G>T (p.Thr393=)SNV Likely benign 699900 7:148515030-148515030 7:148817938-148817938
116 EZH2 NM_004456.5(EZH2):c.933T>C (p.Tyr311=)SNV Likely benign 699578 7:148516754-148516754 7:148819662-148819662
117 EZH2 NM_004456.5(EZH2):c.573C>T (p.Asp191=)SNV Likely benign 699611 7:148525884-148525884 7:148828792-148828792
118 EZH2 NM_004456.5(EZH2):c.485-8C>TSNV Likely benign 698604 7:148525980-148525980 7:148828888-148828888
119 EZH2 NM_004456.5(EZH2):c.1179G>C (p.Thr393=)SNV Likely benign 705855 7:148515030-148515030 7:148817938-148817938
120 EZH2 NM_004456.5(EZH2):c.963C>T (p.Asp321=)SNV Likely benign 705042 7:148516724-148516724 7:148819632-148819632
121 EZH2 NM_004456.5(EZH2):c.732T>C (p.Tyr244=)SNV Likely benign 706388 7:148523721-148523721 7:148826629-148826629
122 EZH2 NM_004456.5(EZH2):c.1548C>T (p.Asp516=)SNV Likely benign 697356 7:148512130-148512130 7:148815038-148815038
123 EZH2 NM_004456.5(EZH2):c.1458C>T (p.Pro486=)SNV Likely benign 695664 7:148513823-148513823 7:148816731-148816731
124 EZH2 NM_004456.4(EZH2):c.2226C>T (p.Val742=)SNV Likely benign 416830 rs148228353 7:148504768-148504768 7:148807676-148807676
125 EZH2 NM_004456.4(EZH2):c.474C>T (p.His158=)SNV Likely benign 416829 rs147319809 7:148526830-148526830 7:148829738-148829738
126 EZH2 NM_004456.4(EZH2):c.1852-9A>CSNV Likely benign 416828 rs199654408 7:148508821-148508821 7:148811729-148811729
127 EZH2 NM_004456.4(EZH2):c.625+5G>ASNV Likely benign 459204 rs143615322 7:148525827-148525827 7:148828735-148828735
128 EZH2 NM_004456.4(EZH2):c.1104C>T (p.Ser368=)SNV Likely benign 528798 rs184733138 7:148515105-148515105 7:148818013-148818013
129 EZH2 NM_004456.4(EZH2):c.484+10A>GSNV Likely benign 528799 rs370302056 7:148526810-148526810 7:148829718-148829718
130 NSD1 NM_022455.4(NSD1):c.3722G>C (p.Ser1241Thr)SNV Likely benign 159313 rs138641637 5:176639122-176639122 5:177212121-177212121
131 NSD1 NM_022455.4(NSD1):c.2696T>C (p.Ile899Thr)SNV Likely benign 159290 rs142703625 5:176638096-176638096 5:177211095-177211095
132 NSD1 NM_022455.4(NSD1):c.*407G>ASNV Likely benign 352897 rs140990285 5:176722867-176722867 5:177295866-177295866
133 NSD1 NM_022455.4(NSD1):c.*1542A>GSNV Likely benign 352908 rs551304965 5:176724002-176724002 5:177297001-177297001
134 NSD1 NM_022455.4(NSD1):c.*1870G>ASNV Likely benign 352912 rs566513882 5:176724330-176724330 5:177297329-177297329
135 NSD1 NM_022455.4(NSD1):c.*800G>ASNV Likely benign 352899 rs116094681 5:176723260-176723260 5:177296259-177296259
136 NSD1 NM_022455.4(NSD1):c.3540A>G (p.Lys1180=)SNV Likely benign 352883 rs776683728 5:176638940-176638940 5:177211939-177211939
137 NSD1 NM_022455.4(NSD1):c.2170G>A (p.Glu724Lys)SNV Likely benign 352874 rs771456995 5:176637570-176637570 5:177210569-177210569
138 NSD1 NM_022455.4(NSD1):c.*4331C>GSNV Likely benign 352934 rs187514085 5:176726791-176726791 5:177299790-177299790
139 NSD1 NM_022455.4(NSD1):c.*4027T>CSNV Likely benign 352930 rs114048132 5:176726487-176726487 5:177299486-177299486
140 NSD1 NM_022455.4(NSD1):c.*3279G>TSNV Likely benign 352920 rs78749307 5:176725739-176725739 5:177298738-177298738
141 NSD1 NM_022455.4(NSD1):c.3649C>T (p.Pro1217Ser)SNV Likely benign 352884 rs372004424 5:176639049-176639049 5:177212048-177212048
142 NSD1 NM_022455.4(NSD1):c.*1053C>ASNV Likely benign 352903 rs139257248 5:176723513-176723513 5:177296512-177296512
143 NSD1 NM_022455.4(NSD1):c.*3495A>GSNV Likely benign 352924 rs80330628 5:176725955-176725955 5:177298954-177298954
144 NSD1 NM_022455.4(NSD1):c.*4344C>TSNV Likely benign 352935 rs531214385 5:176726804-176726804 5:177299803-177299803
145 NSD1 NM_022455.4(NSD1):c.*4459G>TSNV Likely benign 352937 rs551390187 5:176726919-176726919 5:177299918-177299918
146 NSD1 NM_022455.4(NSD1):c.*4541dupduplication Likely benign 352940 rs199804578 5:176727000-176727001 5:177299999-177300000
147 NSD1 NM_022455.4(NSD1):c.*209G>TSNV Likely benign 352894 rs371876700 5:176722669-176722669 5:177295668-177295668
148 NSD1 NM_022455.4(NSD1):c.*1116G>ASNV Likely benign 352904 rs75224805 5:176723576-176723576 5:177296575-177296575
149 NSD1 NM_022455.4(NSD1):c.*2160A>CSNV Likely benign 352913 rs144806239 5:176724620-176724620 5:177297619-177297619
150 NSD1 NM_022455.4(NSD1):c.*3141G>ASNV Likely benign 352919 rs75981583 5:176725601-176725601 5:177298600-177298600
151 NSD1 NM_022455.4(NSD1):c.*4199T>GSNV Likely benign 352933 rs78991579 5:176726659-176726659 5:177299658-177299658
152 NSD1 NM_022455.4(NSD1):c.*2395T>CSNV Likely benign 352917 rs113322699 5:176724855-176724855 5:177297854-177297854
153 NSD1 NM_022455.4(NSD1):c.*3098dupduplication Likely benign 352918 rs145155077 5:176725557-176725558 5:177298556-177298557
154 NSD1 NM_022455.4(NSD1):c.*3291A>GSNV Likely benign 352921 rs142054758 5:176725751-176725751 5:177298750-177298750
155 NSD1 NM_022455.4(NSD1):c.*3827T>CSNV Likely benign 352927 rs118177896 5:176726287-176726287 5:177299286-177299286
156 EZH2 NM_004456.4(EZH2):c.234C>T (p.Arg78=)SNV Likely benign 359287 rs140399505 7:148543574-148543574 7:148846482-148846482
157 NSD1 NM_022455.4(NSD1):c.*4360T>GSNV Likely benign 352936 rs536849961 5:176726820-176726820 5:177299819-177299819
158 EZH2 NM_004456.4(EZH2):c.-168dupduplication Likely benign 359294 rs545716282 7:148581415-148581416 7:148884323-148884324
159 EZH2 NM_004456.4(EZH2):c.*275A>GSNV Likely benign 369578 rs543537882 7:148504463-148504463 7:148807371-148807371
160 EZH2 NM_004456.4(EZH2):c.1281A>G (p.Pro427=)SNV Likely benign 359282 rs530239078 7:148514443-148514443 7:148817351-148817351
161 EZH2 NM_004456.4(EZH2):c.484+13C>TSNV Likely benign 359285 rs140616632 7:148526807-148526807 7:148829715-148829715
162 EZH2 NM_004456.5(EZH2):c.118-5_118-4deldeletion Benign/Likely benign 359288 rs3214332 7:148543694-148543695 7:148846602-148846603
163 EZH2 NM_004456.4(EZH2):c.657T>C (p.Pro219=)SNV Benign/Likely benign 359283 rs148843424 7:148524327-148524327 7:148827235-148827235
164 EZH2 NM_004456.4(EZH2):c.396T>C (p.Pro132=)SNV Benign/Likely benign 359286 rs61732845 7:148526908-148526908 7:148829816-148829816
165 NSD1 NM_022455.4(NSD1):c.7350T>C (p.Asn2450=)SNV Benign/Likely benign 352892 rs200241618 5:176721719-176721719 5:177294718-177294718
166 NSD1 NM_022455.4(NSD1):c.7575C>T (p.Asp2525=)SNV Benign/Likely benign 352893 rs148891711 5:176721944-176721944 5:177294943-177294943
167 EZH2 NM_004456.4(EZH2):c.1547-10C>TSNV Benign/Likely benign 390231 rs202184941 7:148512141-148512141 7:148815049-148815049
168 EZH2 NM_004456.4(EZH2):c.1852-9A>GSNV Benign/Likely benign 359278 rs199654408 7:148508821-148508821 7:148811729-148811729
169 NSD1 NM_022455.4(NSD1):c.3106G>C (p.Ala1036Pro)SNV Benign/Likely benign 159301 rs28932179 5:176638506-176638506 5:177211505-177211505
170 NSD1 NM_022455.4(NSD1):c.3564G>C (p.Arg1188Ser)SNV Benign/Likely benign 159310 rs199814669 5:176638964-176638964 5:177211963-177211963
171 NSD1 NM_022455.4(NSD1):c.2071G>A (p.Ala691Thr)SNV Benign/Likely benign 159279 rs28932177 5:176637471-176637471 5:177210470-177210470
172 NSD1 NM_022455.4(NSD1):c.339C>T (p.Cys113=)SNV Benign/Likely benign 159308 rs77093936 5:176562443-176562443 5:177135442-177135442
173 NSD1 NM_022455.4(NSD1):c.4564G>A (p.Asp1522Asn)SNV Benign/Likely benign 159337 rs201483724 5:176675248-176675248 5:177248247-177248247
174 NSD1 NM_022455.4(NSD1):c.7908C>T (p.Leu2636=)SNV Benign/Likely benign 159443 rs143159630 5:176722277-176722277 5:177295276-177295276
175 EZH2 NM_004456.4(EZH2):c.2028T>C (p.Asn676=)SNV Benign/Likely benign 158581 rs115842196 7:148507426-148507426 7:148810334-148810334
176 EZH2 NM_004456.4(EZH2):c.1852-6C>TSNV Benign/Likely benign 158578 rs78589034 7:148508818-148508818 7:148811726-148811726
177 EZH2 NM_004456.4(EZH2):c.1731G>A (p.Pro577=)SNV Benign/Likely benign 158577 rs41277437 7:148511171-148511171 7:148814079-148814079
178 NSD1 NM_022455.4(NSD1):c.2601C>A (p.Leu867=)SNV Benign/Likely benign 352878 rs368078696 5:176638001-176638001 5:177211000-177211000
179 NSD1 NM_022455.4(NSD1):c.2339C>T (p.Ser780Leu)SNV Benign/Likely benign 241432 rs201327209 5:176637739-176637739 5:177210738-177210738
180 EZH2 NM_004456.5(EZH2):c.247-15dupduplication Benign/Likely benign 239931 rs557474218 7:148529851-148529852 7:148832759-148832760
181 NSD1 NM_022455.4(NSD1):c.480C>T (p.Asp160=)SNV Benign/Likely benign 261588 rs79427433 5:176562584-176562584 5:177135583-177135583
182 NSD1 NM_022455.4(NSD1):c.1317C>T (p.Asn439=)SNV Benign/Likely benign 261581 rs150421873 5:176636717-176636717 5:177209716-177209716
183 NSD1 NM_022455.4(NSD1):c.5712C>T (p.Pro1904=)SNV Benign/Likely benign 261593 rs756321444 5:176707655-176707655 5:177280654-177280654
184 EZH2 NM_004456.4(EZH2):c.485-7G>ASNV Benign/Likely benign 198172 rs112932272 7:148525979-148525979 7:148828887-148828887
185 NSD1 NM_022455.4(NSD1):c.4642-7T>CSNV Benign/Likely benign 194116 rs183928380 5:176678724-176678724 5:177251723-177251723
186 NSD1 NM_022455.4(NSD1):c.2835T>C (p.Ser945=)SNV Benign/Likely benign 96049 rs145987330 5:176638235-176638235 5:177211234-177211234
187 NSD1 NM_022455.4(NSD1):c.7636G>A (p.Ala2546Thr)SNV Benign/Likely benign 96079 rs78247455 5:176722005-176722005 5:177295004-177295004
188 NSD1 NM_022455.4(NSD1):c.7850T>C (p.Leu2617Ser)SNV Benign/Likely benign 96082 rs77618751 5:176722219-176722219 5:177295218-177295218
189 EZH2 NM_004456.4(EZH2):c.1459G>A (p.Ala487Thr)SNV Benign/Likely benign 134222 rs201135441 7:148513822-148513822 7:148816730-148816730
190 NSD1 NM_022455.4(NSD1):c.1792T>C (p.Leu598=)SNV Benign/Likely benign 96040 rs28932176 5:176637192-176637192 5:177210191-177210191
191 NSD1 NM_022455.4(NSD1):c.4498-10deldeletion Benign/Likely benign 96059 rs200890017 5:176675167-176675167 5:177248166-177248166
192 NSD1 NM_022455.4(NSD1):c.5781C>G (p.Ala1927=)SNV Benign/Likely benign 96064 rs61749654 5:176707724-176707724 5:177280723-177280723
193 NSD1 NM_022455.4(NSD1):c.6750G>A (p.Met2250Ile)SNV Benign 96070 rs35848863 5:176721119-176721119 5:177294118-177294118
194 NSD1 NM_022455.4(NSD1):c.6782T>C (p.Met2261Thr)SNV Benign 96071 rs34165241 5:176721151-176721151 5:177294150-177294150
195 NSD1 NM_022455.4(NSD1):c.6829T>C (p.Leu2277=)SNV Benign 96073 rs28580074 5:176721198-176721198 5:177294197-177294197
196 NSD1 NM_022455.4(NSD1):c.6903G>C (p.Gly2301=)SNV Benign 96074 rs11740250 5:176721272-176721272 5:177294271-177294271
197 NSD1 NM_022455.4(NSD1):c.1840G>T (p.Val614Leu)SNV Benign 96042 rs3733875 5:176637240-176637240 5:177210239-177210239
198 NSD1 NM_022455.4(NSD1):c.2176T>C (p.Ser726Pro)SNV Benign 96043 rs28932178 5:176637576-176637576 5:177210575-177210575
199 EZH2 NM_004456.4(EZH2):c.553G>C (p.Asp185His)SNV Benign 134224 rs2302427 7:148525904-148525904 7:148828812-148828812
200 NSD1 NM_022455.4(NSD1):c.3705T>C (p.Asn1235=)SNV Benign 96057 rs28932181 5:176639105-176639105 5:177212104-177212104
201 EZH2 NM_004456.4(EZH2):c.1240+9C>ASNV Benign 135538 rs114320893 7:148514960-148514960 7:148817868-148817868
202 EZH2 NM_004456.4(EZH2):c.2110+6T>GSNV Benign 137273 rs41277434 7:148506396-148506396 7:148809304-148809304
203 NSD1 NM_022455.4(NSD1):c.1482C>T (p.Cys494=)SNV Benign 96035 rs1363405 5:176636882-176636882 5:177209881-177209881
204 NSD1 NM_022455.4(NSD1):c.1749G>A (p.Glu583=)SNV Benign 96038 rs3733874 5:176637149-176637149 5:177210148-177210148
205 EZH2 NM_004456.5(EZH2):c.1452A>G (p.Pro484=)SNV Benign 696883 7:148513829-148513829 7:148816737-148816737
206 EZH2 NM_004456.4(EZH2):c.*21deldeletion Benign 259400 rs3217095 7:148504717-148504717 7:148807625-148807625
207 EZH2 NM_004456.4(EZH2):c.1017T>C (p.Phe339=)SNV Benign 158576 rs77051363 7:148515192-148515192 7:148818100-148818100
208 EZH2 NM_004456.4(EZH2):c.118-4deldeletion Benign 210966 rs3214332 7:148543694-148543694 7:148846602-148846602
209 NSD1 NM_022455.4(NSD1):c.*3542T>CSNV Benign 352925 rs4976682 5:176726002-176726002 5:177299001-177299001
210 NSD1 NM_022455.4(NSD1):c.*2185A>GSNV Benign 352914 rs12659551 5:176724645-176724645 5:177297644-177297644
211 NSD1 NM_022455.4(NSD1):c.*1220T>CSNV Benign 352906 rs11956153 5:176723680-176723680 5:177296679-177296679
212 NSD1 NM_022455.4(NSD1):c.*3338A>CSNV Benign 352922 rs75587357 5:176725798-176725798 5:177298797-177298797
213 NSD1 NM_022455.4(NSD1):c.*4611deldeletion Benign 352943 rs60995782 5:176727059-176727059 5:177300058-177300058
214 NSD1 NM_022455.4(NSD1):c.*1597G>ASNV Benign 352909 rs11952926 5:176724057-176724057 5:177297056-177297056
215 NSD1 NM_022455.4(NSD1):c.*4175G>ASNV Benign 352932 rs3088050 5:176726635-176726635 5:177299634-177299634

UniProtKB/Swiss-Prot genetic disease variations for Weaver Syndrome:

73 (showing 11, show less)
# Symbol AA change Variation ID SNP ID
1 EZH2 p.Pro132Ser VAR_067595 rs193921148
2 EZH2 p.His689Tyr VAR_067597 rs193921147
3 EZH2 p.Tyr133Cys VAR_078320
4 EZH2 p.Met134Thr VAR_078321
5 EZH2 p.Lys156Glu VAR_078322
6 EZH2 p.His279Arg VAR_078323
7 EZH2 p.Tyr658Asn VAR_078326
8 EZH2 p.Ala677Thr VAR_078328 rs397515547
9 EZH2 p.Arg679Cys VAR_078329 rs587783626
10 EZH2 p.Ser690Leu VAR_078331
11 EZH2 p.Tyr736Cys VAR_078334

Expression for Weaver Syndrome

Search GEO for disease gene expression data for Weaver Syndrome.

Pathways for Weaver Syndrome

Pathways related to Weaver Syndrome according to KEGG:

36 (showing 1, show less)
# Name Kegg Source Accession
1 Lysine degradation hsa00310

GO Terms for Weaver Syndrome

Cellular components related to Weaver Syndrome according to GeneCards Suite gene sharing:

(showing 9, show less)
# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 10.16 ZNF496 SUZ12 SETD2 NSD3 NSD1 KMT2D
2 nucleoplasm GO:0005654 9.97 SUZ12 SETD2 PWWP2B NSD3 NSD1 KMT2D
3 nucleosome GO:0000786 9.61 H3-2 H2AC18 H1-4
4 histone methyltransferase complex GO:0035097 9.5 KMT2D KDM5C KDM4C
5 nuclear heterochromatin GO:0005720 9.46 H1-4 DNMT3A
6 pronucleus GO:0045120 9.4 EZH2 EED
7 sex chromatin GO:0001739 9.37 SUZ12 EED
8 chromosome GO:0005694 9.23 SETD2 NSD3 NSD1 H3-2 H2AC18 H1-4
9 ESC/E(Z) complex GO:0035098 9.13 SUZ12 EZH2 EED

Biological processes related to Weaver Syndrome according to GeneCards Suite gene sharing:

(showing 17, show less)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription, DNA-templated GO:0006355 10.13 ZNF496 SUZ12 SETD2 NSD3 NSD1 KMT2D
2 negative regulation of transcription by RNA polymerase II GO:0000122 10.02 SUZ12 NSD1 H1-4 EZH2 EHMT1 EED
3 negative regulation of transcription, DNA-templated GO:0045892 9.96 KDM5C EZH2 EHMT1 EED CDKN1C
4 methylation GO:0032259 9.87 SETD2 NSD3 NSD1 KMT2D EZH2 EHMT1
5 negative regulation of gene expression, epigenetic GO:0045814 9.73 SUZ12 EZH2 EED DNMT3A
6 chromatin silencing GO:0006342 9.67 KMT2D H2AC18 EED
7 negative regulation of G0 to G1 transition GO:0070317 9.67 SUZ12 EZH2 EHMT1 EED
8 DNA methylation GO:0006306 9.63 EZH2 EHMT1 DNMT3A
9 histone H3-K36 methylation GO:0010452 9.58 SETD2 NSD3 NSD1
10 histone H3-K4 trimethylation GO:0080182 9.57 KMT2D H1-4
11 histone H3-K27 methylation GO:0070734 9.56 SUZ12 EZH2 EHMT1 EED
12 regulation of gene expression by genetic imprinting GO:0006349 9.55 EED DNMT3A
13 histone lysine methylation GO:0034968 9.55 SETD2 NSD3 NSD1 EZH2 EHMT1
14 peptidyl-lysine monomethylation GO:0018026 9.54 SETD2 EHMT1
15 histone H3-K27 trimethylation GO:0098532 9.51 H1-4 EZH2
16 histone methylation GO:0016571 9.43 SUZ12 NSD3 NSD1 EZH2 EHMT1 EED
17 chromatin organization GO:0006325 9.4 SUZ12 SETD2 NSD3 NSD1 KMT2D KDM5C

Molecular functions related to Weaver Syndrome according to GeneCards Suite gene sharing:

(showing 10, show less)
# Name GO ID Score Top Affiliating Genes
1 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.88 SUZ12 NSD1 EZH2 EED DNMT3A
2 chromatin binding GO:0003682 9.88 SUZ12 NSD1 KDM4C EZH2 EED DNMT3A
3 methyltransferase activity GO:0008168 9.7 SETD2 NSD3 NSD1 KMT2D EZH2 EHMT1
4 chromatin DNA binding GO:0031490 9.61 SUZ12 H1-4 EZH2
5 protein-lysine N-methyltransferase activity GO:0016279 9.54 SETD2 EZH2 EHMT1
6 histone methyltransferase activity GO:0042054 9.5 SUZ12 EZH2 EED
7 histone demethylase activity GO:0032452 9.46 KDM5C KDM4C
8 histone methyltransferase activity (H3-K36 specific) GO:0046975 9.43 SETD2 NSD3 NSD1
9 histone-lysine N-methyltransferase activity GO:0018024 9.35 SETD2 NSD3 NSD1 EZH2 EHMT1
10 histone methyltransferase activity (H3-K27 specific) GO:0046976 8.92 SUZ12 EZH2 EHMT1 EED

Sources for Weaver Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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