MCID: STS008
MIFTS: 47

Sotos Syndrome 1 malady

Categories: Genetic diseases, Rare diseases, Eye diseases, Fetal diseases

Aliases & Classifications for Sotos Syndrome 1

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Sources:
11Disease Ontology, 12diseasecard, 13DISEASES, 23GeneReviews, 24GeneTests, 25Genetics Home Reference, 27GTR, 30ICD10, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 40MESH via Orphanet, 45NCIt, 48NIH Rare Diseases, 49NINDS, 50Novoseek, 52OMIM, 54Orphanet, 62SNOMED-CT, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Sotos Syndrome 1:

Name: Sotos Syndrome 1 52 24 70 27 12
Sotos Syndrome 11 23 48 25 49 54 70 50 39 13
Cerebral Gigantism 11 48 24 25 49 54 70
Sotos' Syndrome 25 27 68
 
Distinctive Facial Appearance, Overgrowth in Childhood, and Learning Disabilities or Delayed Development 48
Chromosome 5q35 Deletion Syndrome 70
Sotos Sequence 25
Sotos1 70

Characteristics:

Orphanet epidemiological data:

54
sotos syndrome:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Neonatal; Age of death: normal life expectancy

HPO:

64
sotos syndrome 1:
Inheritance: autosomal dominant inheritance, sporadic

GeneReviews:

23
Penetrance: more than 100 parents of individuals with confirmed sotos syndrome have been tested [douglas et al 2003, rio et al 2003, türkmen et al 2003, tatton-brown et al 2005b]. to date, an nsd1 pathogenic variant has not been identified in an unaffected parent or an unaffected sib. thus, sotos syndrome appears to be a fully penetrant condition...


Classifications:



External Ids:

OMIM52 117550
Disease Ontology11 DOID:14748
ICD1030 Q87.3
MeSH39 D058495
NCIt45 C75019
SNOMED-CT62 75968004
Orphanet54 ORPHA821
UMLS via Orphanet69 C0175695
ICD10 via Orphanet31 Q87.3
MESH via Orphanet40 D058495
MedGen37 C0175695

Summaries for Sotos Syndrome 1

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NIH Rare Diseases:48 Sotos syndrome is a condition characterized mainly by distinctive facial features; overgrowth in childhood; and learning disabilities or delayed development. Facial features may include a long, narrow face; a high forehead; flushed (reddened) cheeks; a small, pointed chin; and down-slanting palpebral fissures. Affected infants and children tend to grow quickly; they are significantly taller than their siblings and peers and have a large head. Other signs and symptoms may include intellectual disability; behavioral problems; problems with speech and language; and/or weak muscle tone (hypotonia). Sotos syndrome is usually caused by a mutation in the NSD1 gene and is inherited in an autosomal dominant manner. About 95% of cases are due to a new mutation in the affected person and occur sporadically (are not inherited). Last updated: 5/27/2015

MalaCards based summary: Sotos Syndrome 1, also known as sotos syndrome, is related to beckwith-wiedemann syndrome and sotos syndrome 2, and has symptoms including tall stature, macrocephaly and mandibular prognathia. An important gene associated with Sotos Syndrome 1 is NSD1 (Nuclear Receptor Binding SET Domain Protein 1). Affiliated tissues include eye, bone and testes.

Disease Ontology:11 An autosomal recessive disease that occurs rarely and is characterized by excessive physical growth during the first 2 to 3 years of life.

Genetics Home Reference:25 Sotos syndrome is a disorder characterized by a distinctive facial appearance, overgrowth in childhood, and learning disabilities or delayed development of mental and movement abilities. Characteristic facial features include a long, narrow face; a high forehead; flushed (reddened) cheeks; and a small, pointed chin. In addition, the outside corners of the eyes may point downward (down-slanting palpebral fissures). This facial appearance is most notable in early childhood. Affected infants and children tend to grow quickly; they are significantly taller than their siblings and peers and have an unusually large head. However, adult height is usually in the normal range.

NINDS:49 Sotos syndrome (cerebral gigantism) is a rare genetic disorder caused by mutation in the NSD1 gene on chromosome 5.

UniProtKB/Swiss-Prot:70 Sotos syndrome 1: A childhood overgrowth syndrome characterized by pre- and postnatal overgrowth, developmental delay, mental retardation, advanced bone age, and abnormal craniofacial morphology including macrodolichocephaly with frontal bossing, frontoparietal sparseness of hair, apparent hypertelorism, downslanting palpebral fissures, and facial flushing. Common oral findings include: premature eruption of teeth; high, arched palate; pointed chin and, more rarely, prognathism.

Wikipedia:71 Sotos syndrome (cerebral gigantism or Sotos-Dodge syndrome) is a rare genetic disorder characterized by... more...

Description from OMIM:52 117550

GeneReviews for NBK1479

Related Diseases for Sotos Syndrome 1

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Graphical network of the top 20 diseases related to Sotos Syndrome 1:



Diseases related to sotos syndrome 1

Symptoms & Phenotypes for Sotos Syndrome 1

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Symptoms by clinical synopsis from OMIM:

117550

Clinical features from OMIM:

117550

Human phenotypes related to Sotos Syndrome 1:

 64 54 (show all 75)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 tall stature64 54 hallmark (90%) Very frequent (99-80%) HP:0000098
2 macrocephaly64 54 hallmark (90%) Very frequent (99-80%) HP:0000256
3 mandibular prognathia64 54 hallmark (90%) Very frequent (99-80%) HP:0000303
4 hypertelorism64 54 hallmark (90%) Very frequent (99-80%) HP:0000316
5 high forehead64 54 hallmark (90%) Very frequent (99-80%) HP:0000348
6 macrotia64 54 hallmark (90%) Very frequent (99-80%) HP:0000400
7 depressed nasal ridge64 54 hallmark (90%) Very frequent (99-80%) HP:0000457
8 downslanted palpebral fissures64 54 hallmark (90%) Very frequent (99-80%) HP:0000494
9 frontal bossing64 54 hallmark (90%) Very frequent (99-80%) HP:0002007
10 accelerated skeletal maturation64 54 hallmark (90%) Very frequent (99-80%) HP:0005616
11 cognitive impairment64 hallmark (90%) HP:0100543
12 dolichocephaly64 54 typical (50%) Frequent (79-30%) HP:0000268
13 conductive hearing impairment64 54 typical (50%) Frequent (79-30%) HP:0000405
14 anteverted nares64 54 typical (50%) Frequent (79-30%) HP:0000463
15 precocious puberty64 54 typical (50%) Frequent (79-30%) HP:0000826
16 obesity64 54 typical (50%) Frequent (79-30%) HP:0001513
17 hypoglycemia64 54 typical (50%) Frequent (79-30%) HP:0001943
18 advanced eruption of teeth64 54 typical (50%) Frequent (79-30%) HP:0006288
19 cryptorchidism64 54 occasional (7.5%) Occasional (29-5%) HP:0000028
20 abnormality of the ureter64 54 occasional (7.5%) Occasional (29-5%) HP:0000069
21 polycystic kidney dysplasia64 occasional (7.5%) HP:0000113
22 coarse facial features64 54 occasional (7.5%) Occasional (29-5%) HP:0000280
23 micrognathia64 54 occasional (7.5%) Occasional (29-5%) HP:0000347
24 strabismus64 54 occasional (7.5%) Occasional (29-5%) HP:0000486
25 behavioral abnormality64 54 occasional (7.5%) Occasional (29-5%) HP:0000708
26 abnormality of the fingernails64 54 occasional (7.5%) Occasional (29-5%) HP:0001231
27 seizures64 54 occasional (7.5%) Occasional (29-5%) HP:0001250
28 hyperreflexia64 54 occasional (7.5%) Occasional (29-5%) HP:0001347
29 craniosynostosis64 54 occasional (7.5%) Occasional (29-5%) HP:0001363
30 patent ductus arteriosus64 54 occasional (7.5%) Occasional (29-5%) HP:0001643
31 eeg abnormality64 54 occasional (7.5%) Occasional (29-5%) HP:0002353
32 scoliosis64 54 occasional (7.5%) Occasional (29-5%) HP:0002650
33 genu valgum64 54 occasional (7.5%) Occasional (29-5%) HP:0002857
34 genu varum64 54 occasional (7.5%) Occasional (29-5%) HP:0002970
35 abnormality of the hip bone64 occasional (7.5%) HP:0003272
36 neoplasm of the nervous system64 54 occasional (7.5%) Occasional (29-5%) HP:0004375
37 presacral teratoma64 occasional (7.5%) HP:0009793
38 displacement of the external urethral meatus64 occasional (7.5%) HP:0100627
39 intellectual disability64 54 Very frequent (99-80%) HP:0001249
40 narrow palate64 HP:0000189
41 high palate64 54 Very frequent (99-80%) HP:0000218
42 pointed chin64 HP:0000307
43 otitis media64 HP:0000388
44 hypermetropia64 HP:0000540
45 nystagmus64 HP:0000639
46 large hands64 HP:0001176
47 global developmental delay64 54 Very frequent (99-80%) HP:0001263
48 neonatal hypotonia64 HP:0001319
49 partial agenesis of the corpus callosum64 HP:0001338
50 joint laxity64 HP:0001388
51 ventricular septal defect64 HP:0001629
52 atria septal defect64 HP:0001631
53 pes planus64 HP:0001763
54 small nail64 HP:0001792
55 long foot64 HP:0001833
56 abnormal glucose tolerance64 HP:0001952
57 enlarged cisterna magna64 HP:0002280
58 poor coordination64 HP:0002370
59 cavum septum pellucidum64 HP:0002389
60 expressive language delay64 HP:0002474
61 nephroblastoma64 HP:0002667
62 high anterior hairline64 HP:0009890
63 hypospadias54 Occasional (29-5%)
64 renal duplication54 Occasional (29-5%)
65 vesicoureteral reflux54 Occasional (29-5%)
66 muscular hypotonia54 Very frequent (99-80%)
67 congenital hip dislocation54 Occasional (29-5%)
68 ventriculomegaly54 Frequent (79-30%)
69 aplasia/hypoplasia of the corpus callosum54 Frequent (79-30%)
70 feeding difficulties in infancy54 Very frequent (99-80%)
71 abnormality of immune system physiology54 Frequent (79-30%)
72 abnormality of the cardiac septa54 Occasional (29-5%)
73 neoplasm54 Occasional (29-5%)
74 multiple renal cysts54 Occasional (29-5%)
75 prominent forehead54 Very frequent (99-80%)

UMLS symptoms related to Sotos Syndrome 1:


seizures, joint laxity

Drugs & Therapeutics for Sotos Syndrome 1

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Drugs for Sotos Syndrome 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 17)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Aspirinapproved, vet_approvedPhase 4111250-78-22244
Synonyms:
11126-35-5
11126-37-7
1oxr
2-(ACETYLOXY)benzoic acid
2-(Acetyloxy)benzoate
2-(Acetyloxy)benzoic acid
2-Acetoxybenzenecarboxylic acid
2-Acetoxybenzoate
2-Acetoxybenzoic acid
2-Carboxyphenyl acetate
2349-94-2
26914-13-6
50-78-2
8-hour Bayer
98201-60-6
A 5376
A.S.A
A.S.A.
A.S.A. Empirin
A.S.A. empirin
A2093_SIGMA
A3160_SIGMA
A5376_SIGMA
A6810_SIGMA
AB1003266
AC 5230
AC1L1D8U
AC1Q1LA0
ACETYLSALICYLIC ACID
AI3-02956
AIN
AKOS000118884
ASA
Acenterine
Acesal
Acetal
Acetard
Aceticyl
Acetilsalicilico
Acetilum acidulatum
Acetisal
Acetol
Acetonyl
Acetophen
Acetosal
Acetosalic acid
Acetosalin
Acetoxybenzoic acid
Acetylin
Acetylsal
Acetylsalicylate
Acetylsalicylic acid
Acetylsalicylsaeure
Acetylsalicylsaure
Acetylsalycilic acid
Acetyonyl
Acetysal
Acetysalicylic acid
Acide 2-(acetyloxy)benzoique
Acide acetylsalicylique
Acide acétylsalicylique
Acido O-acetil-benzoico
Acido acetilsalicilico
Acidum acetylsalicylicum
Acimetten
Acisal
Acylpyrin
Adiro
Aloxiprimum
Asacard
Asagran
Asatard
Ascoden-30
Aspalon
Aspec
Aspergum
Aspir-Mox
Aspirdrops
Aspirin
Aspirin (JP15/USP)
Aspirin [BAN:JAN]
Aspirina 03
Aspirine
Asprin
Aspro
Aspro Clear
Asteric
Azetylsalizylsaeure
Azetylsalizylsäure
BIDD:GT0118
BRN 0779271
Bay-e-4465
Bayer
Bayer Aspirin 8 Hour
Bayer Buffered
Bayer Extra Strength Aspirin For Migraine Pain
Bayer Plus
Benaspir
Bi-prin
Bialpirina
Bialpirinia
Bufferin
C01405
CCRIS 3243
CHEBI:15365
CHEMBL25
CID2244
Caprin
Cardioaspirin
Cardioaspirina
Cemirit
Claradin
Clariprin
Colfarit
Contrheuma retard
Coricidin
Crystar
D00109
D001241
DB00945
Decaten
Delgesic
Dispril
DivK1c_000555
Dolean pH 8
Duramax
ECM
EINECS 200-064-1
EU-0100038
Easprin
Easprin (TN)
Ecolen
Ecotrin
Empirin
Empirin with Codeine
Endosprin
Endydol
 
Entericin
Enterophen
Enterosarein
Enterosarine
Entrophen
Extren
Globentyl
Globoid
HMS1920E13
HMS2090G03
HMS2091K13
HMS501L17
HSDB 652
Helicon
I14-7505
IDI1_000555
Idragin
Istopirin
KBio1_000555
KBio2_001725
KBio2_002271
KBio2_004293
KBio2_004839
KBio2_006861
KBio2_007407
KBio3_002149
KBio3_002751
KBioGR_000398
KBioGR_002271
KBioSS_001725
KBioSS_002272
Kapsazal
Kyselina 2-acetoxybenzoova
Kyselina acetylsalicylova
LS-143
Levius
Lopac-A-5376
Lopac0_000038
MLS001055329
MLS001066332
MLS001336045
MLS001336046
Magnecyl
Measurin
Medisyl
Micristin
MolPort-000-871-622
NCGC00015067-01
NCGC00015067-04
NCGC00015067-09
NCGC00090977-01
NCGC00090977-02
NCGC00090977-03
NCGC00090977-04
NCGC00090977-05
NCGC00090977-06
NCGC00090977-07
NCI60_002222
NINDS_000555
NSC 27223
NSC27223
NSC406186
Neuronika
Novid
Nu-seals
Nu-seals aspirin
O-(Acetyloxy)benzoate
O-(Acetyloxy)benzoic acid
O-Acetoxybenzoate
O-Acetoxybenzoic acid
O-Acetylsalicylic acid
O-Carboxyphenyl acetate
O-accetylsalicylic acid
O-acetylsalicylic acid
PL-2200
Persistin
Pharmacin
Pirseal
Polopirin
Polopiryna
Premaspin
R16CO5Y76E [UNII]
Rheumin tabletten
Rheumintabletten
Rhodine
Rhonal
Ronal
S-211
SMR000059138
SP 189
SPBio_001838
SPECTRUM1500130
ST075414
Salacetin
Salcetogen
Saletin
Salicylic acid acetate
Salicylic acid, acetate
Salospir
Solfrin
Solprin
Solprin acid
Solpyron
Solupsan
Spectrum2_001899
Spectrum3_001295
Spectrum4_000099
Spectrum5_000740
Spectrum_001245
Spira-Dine
St. Joseph
St. Joseph Aspirin for Adults
Supac
Tasprin
Temperal
Toldex
Triaminicin
Triple-sal
UNII R16CO5Y76E
UNII-R16CO5Y76E
UNII=R16CO5Y76E
UNM-0000306102
Vanquish
WLN: QVR BOV1
XAXA
Xaxa
Yasta
ZORprin
aspirin
cMAP_000006
component of Midol
component of Synirin
nchem.859-comp6
o-Acetoxybenzoic acid
o-Carboxyphenyl acetate
o-acetoxybenzoic acid
o-carboxyphenyl acetate
ácido acetilsalicílico
2Cyclooxygenase InhibitorsPhase 42778
3AnalgesicsPhase 411287
4Peripheral Nervous System AgentsPhase 422776
5Platelet Aggregation InhibitorsPhase 42419
6Fibrinolytic AgentsPhase 42317
7Analgesics, Non-NarcoticPhase 46260
8Anti-Inflammatory AgentsPhase 410355
9Anti-Inflammatory Agents, Non-SteroidalPhase 44295
10AntipyreticsPhase 41534
11Antirheumatic AgentsPhase 4, Phase 310627
12
AbataceptapprovedPhase 3192332348-12-610237
Synonyms:
CTLA4-Ig
 
CTLA4-IgG4m
CTLA4Ig
CTLA4IgG4m
13Immunosuppressive AgentsPhase 312770
14Tranquilizing AgentsPhase 24164
15Psychotropic DrugsPhase 26279
16Central Nervous System DepressantsPhase 212806
17Antipsychotic AgentsPhase 22359

Interventional clinical trials:

idNameStatusNCT IDPhase
1Chronotherapy With Low-dose Aspirin for Primary PreventionRecruitingNCT00725127Phase 4
2A Study to Assess the Efficacy and Safety of Abatacept in Adults With Active Primary Sjögrens SyndromeRecruitingNCT02915159Phase 3
3A Study of RO4917838 in Combination With Antipsychotic Treatment in Patients With Schizophrenia.CompletedNCT00616798Phase 2
4Third International Study on Mechanical VentilationCompletedNCT01093482
5Biobanking of Rett Syndrome and Related DisordersRecruitingNCT02705677
6Natural History of Rett Syndrome & Related DisordersRecruitingNCT02738281

Search NIH Clinical Center for Sotos Syndrome 1


Cochrane evidence based reviews: sotos syndrome

Genetic Tests for Sotos Syndrome 1

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Genetic tests related to Sotos Syndrome 1:

id Genetic test Affiliating Genes
1 Sotos Syndrome 127 24 NSD1
2 Sotos' Syndrome27

Anatomical Context for Sotos Syndrome 1

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MalaCards organs/tissues related to Sotos Syndrome 1:

36
Eye, Bone, Testes, Kidney

Publications for Sotos Syndrome 1

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Articles related to Sotos Syndrome 1:

idTitleAuthorsYear
1
Sotos syndrome 1 and 2. (25345081)
2014

Variations for Sotos Syndrome 1

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UniProtKB/Swiss-Prot genetic disease variations for Sotos Syndrome 1:

70 (show all 14)
id Symbol AA change Variation ID SNP ID
1NSD1p.His1616LeuVAR_015780
2NSD1p.Leu1637ProVAR_015781
3NSD1p.Cys1674TrpVAR_015782
4NSD1p.Ile1687AsnVAR_015783
5NSD1p.Gly1792ValVAR_015784
6NSD1p.Cys1925ArgVAR_015785
7NSD1p.Gly1955AspVAR_015786
8NSD1p.Arg1984GlnVAR_015787rs587784169
9NSD1p.Tyr1997CysVAR_015788rs797045825
10NSD1p.Arg2005GlnVAR_015789rs587784174
11NSD1p.Arg2017GlnVAR_015790rs587784177
12NSD1p.Arg2017TrpVAR_015791rs587784176
13NSD1p.His2143GlnVAR_015792rs121908068
14NSD1p.Cys2183SerVAR_015793rs121908069

Clinvar genetic disease variations for Sotos Syndrome 1:

5 (show all 189)
id Gene Variation Type Significance SNP ID Assembly Location
1NSD1NM_022455.4(NSD1): c.1077delG (p.Arg359Serfs)deletionPathogenicrs587784068GRCh37Chr 5, 176631134: 176631134
2NSD1NM_022455.4(NSD1): c.1262G> A (p.Trp421Ter)SNVPathogenicrs587784071GRCh37Chr 5, 176636662: 176636662
3NSD1NM_022455.4(NSD1): c.1456delT (p.Ser486Leufs)deletionPathogenicrs587784073GRCh37Chr 5, 176636856: 176636856
4NSD1NM_022455.4(NSD1): c.1810C> T (p.Arg604Ter)SNVPathogenicrs587784076GRCh37Chr 5, 176637210: 176637210
5NSD1NM_022455.4(NSD1): c.1831C> T (p.Arg611Ter)SNVPathogenicrs587784077GRCh37Chr 5, 176637231: 176637231
6NSD1NM_022455.4(NSD1): c.2014_2018delACAGA (p.Thr672Glufs)deletionPathogenicrs587784078GRCh37Chr 5, 176637414: 176637418
7NSD1NM_022455.4(NSD1): c.2048delA (p.Lys683Argfs)deletionPathogenicrs587784079GRCh37Chr 5, 176637448: 176637448
8NSD1NM_022455.4(NSD1): c.2049_2053delGATAA (p.Ile684Valfs)deletionPathogenicrs587784080GRCh37Chr 5, 176637449: 176637453
9NSD1NM_022455.4(NSD1): c.2064delG (p.Arg688Serfs)deletionPathogenicrs587784081GRCh38Chr 5, 177210463: 177210463
10NSD1NM_022455.4(NSD1): c.2124_2127delTACA (p.His708Glnfs)deletionPathogenicrs587784082GRCh37Chr 5, 176637524: 176637527
11NSD1NM_022455.4(NSD1): c.2276C> G (p.Ser759Ter)SNVPathogenicrs587784084GRCh37Chr 5, 176637676: 176637676
12NSD1NM_022455.4(NSD1): c.2295delC (p.Ser766Argfs)deletionPathogenicrs587784085GRCh37Chr 5, 176637695: 176637695
13NSD1NM_022455.4(NSD1): c.2339C> A (p.Ser780Ter)SNVPathogenicrs201327209GRCh37Chr 5, 176637739: 176637739
14NSD1NM_022455.4(NSD1): c.2386_2389delGAAA (p.Glu796Ilefs)deletionPathogenicrs587784086GRCh37Chr 5, 176637786: 176637789
15NSD1NM_022455.4(NSD1): c.2639delG (p.Gly880Glufs)deletionPathogenicrs587784087GRCh37Chr 5, 176638039: 176638039
16NSD1NM_022455.4(NSD1): c.2654C> A (p.Ser885Ter)SNVPathogenicrs587784088GRCh37Chr 5, 176638054: 176638054
17NSD1NM_022455.4(NSD1): c.2827delG (p.Asp943Thrfs)deletionPathogenicrs587784089GRCh37Chr 5, 176638227: 176638227
18NSD1NM_022455.4(NSD1): c.2954_2955delCT (p.Ser985Cysfs)deletionPathogenicrs587784092GRCh37Chr 5, 176638354: 176638355
19NSD1NM_022455.4(NSD1): c.2956delG (p.Ala986Hisfs)deletionPathogenicrs587784093GRCh37Chr 5, 176638356: 176638356
20NSD1NM_022455.4(NSD1): c.3046_3047delGT (p.Val1016Tyrfs)deletionPathogenicrs587784094GRCh37Chr 5, 176638446: 176638447
21NSD1NM_022455.4(NSD1): c.3067C> T (p.Arg1023Ter)SNVPathogenicrs587784095GRCh37Chr 5, 176638467: 176638467
22NSD1NM_022455.4(NSD1): c.3091C> T (p.Arg1031Ter)SNVPathogenicrs587784096GRCh37Chr 5, 176638491: 176638491
23NSD1NM_022455.4(NSD1): c.3185_3186delTG (p.Val1062Aspfs)deletionPathogenicrs587784097GRCh37Chr 5, 176638585: 176638586
24NSD1NM_022455.4(NSD1): c.3214C> T (p.Arg1072Ter)SNVPathogenicrs587784098GRCh37Chr 5, 176638614: 176638614
25NSD1NM_022455.4(NSD1): c.3293delC (p.Thr1098Lysfs)deletionPathogenicrs587784099GRCh37Chr 5, 176638693: 176638693
26NSD1NM_022455.4(NSD1): c.3295delA (p.Ser1099Valfs)deletionPathogenicrs587784100GRCh37Chr 5, 176638695: 176638695
27NSD1NM_022455.4(NSD1): c.3383_3384delCT (p.Ser1128Phefs)deletionPathogenicrs587784101GRCh37Chr 5, 176638783: 176638784
28NSD1NM_022455.4(NSD1): c.3578_3582delGTGAC (p.Ser1193Thrfs)deletionPathogenicrs587784103GRCh37Chr 5, 176638978: 176638982
29NSD1NM_022455.4(NSD1): c.3659_3660delAG (p.Glu1220Alafs)deletionPathogenicrs587784104GRCh37Chr 5, 176639059: 176639060
30NSD1NM_022455.4(NSD1): c.3839G> A (p.Trp1280Ter)SNVPathogenicrs587784105GRCh37Chr 5, 176662864: 176662864
31NSD1NM_022455.4(NSD1): c.3964C> T (p.Arg1322Ter)SNVPathogenicrs587784107GRCh37Chr 5, 176665280: 176665280
32NSD1NM_022455.4(NSD1): c.4057G> T (p.Glu1353Ter)SNVPathogenicrs587784109GRCh37Chr 5, 176665373: 176665373
33NSD1NM_022455.4(NSD1): c.4076C> G (p.Ser1359Ter)SNVPathogenicrs587784110GRCh37Chr 5, 176665392: 176665392
34NSD1NM_022455.4(NSD1): c.4192+2T> GSNVPathogenicrs587784111GRCh37Chr 5, 176665510: 176665510
35NSD1NM_022455.4(NSD1): c.4301delA (p.Lys1434Serfs)deletionPathogenicrs587784112GRCh37Chr 5, 176666865: 176666865
36NSD1NM_022455.4(NSD1): c.4376delG (p.Gly1459Glufs)deletionPathogenicrs587784114GRCh37Chr 5, 176671269: 176671269
37NSD1NM_022455.4(NSD1): c.4378+1G> ASNVPathogenicrs587784115GRCh37Chr 5, 176671272: 176671272
38NSD1NM_022455.4(NSD1): c.4411C> T (p.Arg1471Ter)SNVPathogenicrs570278338GRCh37Chr 5, 176673711: 176673711
39NSD1NM_022455.4(NSD1): c.4417C> T (p.Arg1473Ter)SNVPathogenicrs587784117GRCh37Chr 5, 176673717: 176673717
40NSD1NM_022455.4(NSD1): c.4444C> T (p.Gln1482Ter)SNVPathogenicrs587784118GRCh37Chr 5, 176673744: 176673744
41NSD1NM_022455.4(NSD1): c.4493C> G (p.Ser1498Ter)SNVPathogenicrs587784119GRCh37Chr 5, 176673793: 176673793
42NSD1NM_022455.4(NSD1): c.4498-3A> GSNVPathogenicrs587784120GRCh38Chr 5, 177248178: 177248178
43NSD1NM_022455.4(NSD1): c.4529delG (p.Ser1510Thrfs)deletionPathogenicrs587784121GRCh38Chr 5, 177248212: 177248212
44NSD1NM_022455.4(NSD1): c.4681C> T (p.Gln1561Ter)SNVPathogenicrs587784122GRCh37Chr 5, 176678770: 176678770
45NSD1NM_022455.4(NSD1): c.4705delG (p.Glu1569Serfs)deletionPathogenicrs587784123GRCh37Chr 5, 176678794: 176678794
46NSD1NM_022455.4(NSD1): c.4731_4732delAA (p.Gly1579Lysfs)deletionPathogenicrs587784124GRCh37Chr 5, 176678820: 176678821
47NSD1NM_022455.4(NSD1): c.4745delT (p.Ile1582Thrfs)deletionPathogenicrs587784125GRCh38Chr 5, 177251833: 177251833
48NSD1NM_022455.4(NSD1): c.4753G> T (p.Glu1585Ter)SNVPathogenicrs587784126GRCh37Chr 5, 176678842: 176678842
49NSD1NM_022455.4(NSD1): c.4817G> A (p.Cys1606Tyr)SNVLikely pathogenicrs587784127GRCh38Chr 5, 177257002: 177257002
50NSD1NM_022455.4(NSD1): c.4844A> C (p.Tyr1615Ser)SNVLikely pathogenicrs398124378GRCh37Chr 5, 176684030: 176684030
51NSD1NM_022455.4(NSD1): c.4855T> A (p.Cys1619Ser)SNVPathogenicrs587784128GRCh37Chr 5, 176684041: 176684041
52NSD1NM_022455.4(NSD1): c.4855T> G (p.Cys1619Gly)SNVPathogenicrs587784128GRCh37Chr 5, 176684041: 176684041
53NSD1NM_022455.4(NSD1): c.4907C> T (p.Ser1636Phe)SNVPathogenicrs587784129GRCh37Chr 5, 176684093: 176684093
54NSD1NM_022455.4(NSD1): c.4966+1G> ASNVPathogenicrs587784131GRCh38Chr 5, 177257152: 177257152
55NSD1NM_022455.4(NSD1): c.4966G> T (p.Gly1656Cys)SNVPathogenicrs587784132GRCh37Chr 5, 176684152: 176684152
56NSD1NM_022455.4(NSD1): c.4967-2A> TSNVPathogenicrs587784133GRCh38Chr 5, 177259987: 177259987
57NSD1NM_022455.4(NSD1): c.4987C> T (p.Arg1663Cys)SNVPathogenicrs587784134GRCh37Chr 5, 176687010: 176687010
58NSD1NM_022455.4(NSD1): c.5021G> A (p.Cys1674Tyr)SNVLikely pathogenicrs587784135GRCh37Chr 5, 176687044: 176687044
59NSD1NM_022455.4(NSD1): c.5098C> T (p.Arg1700Ter)SNVPathogenicrs587784137GRCh37Chr 5, 176687121: 176687121
60NSD1NM_022455.4(NSD1): c.5141C> G (p.Ser1714Ter)SNVPathogenicrs587784138GRCh38Chr 5, 177260163: 177260163
61NSD1NM_022455.4(NSD1): c.5146+1G> ASNVPathogenicrs587784139GRCh37Chr 5, 176687170: 176687170
62NSD1NM_022455.4(NSD1): c.5198G> A (p.Cys1733Tyr)SNVLikely pathogenicrs587784140GRCh38Chr 5, 177267613: 177267613
63NSD1NM_022455.4(NSD1): c.5303+1G> CSNVPathogenicrs587784141GRCh37Chr 5, 176694720: 176694720
64NSD1NM_022455.4(NSD1): c.5309G> A (p.Trp1770Ter)SNVPathogenicrs587784142GRCh38Chr 5, 177269607: 177269607
65NSD1NM_022455.4(NSD1): c.5375G> A (p.Gly1792Glu)SNVPathogenicrs587784143GRCh37Chr 5, 176696674: 176696674
66NSD1NM_022455.4(NSD1): c.5390T> C (p.Leu1797Pro)SNVLikely pathogenicrs587784144GRCh37Chr 5, 176696689: 176696689
67NSD1NM_022455.4(NSD1): c.5392_5398delTTTTTTG (p.Phe1798Aspfs)deletionPathogenicrs587784145GRCh37Chr 5, 176696691: 176696697
68NSD1NM_022455.4(NSD1): c.5419A> C (p.Thr1807Pro)SNVLikely pathogenicrs587784146GRCh37Chr 5, 176696718: 176696718
69NSD1NM_022455.4(NSD1): c.5425C> T (p.Gln1809Ter)SNVPathogenicrs587784147GRCh38Chr 5, 177269723: 177269723
70NSD1NM_022455.4(NSD1): c.5431C> T (p.Arg1811Ter)SNVPathogenicrs587784148GRCh37Chr 5, 176696730: 176696730
71NSD1NM_022455.4(NSD1): c.5432G> A (p.Arg1811Gln)SNVPathogenicrs587784149GRCh38Chr 5, 177269730: 177269730
72NSD1NM_022455.4(NSD1): c.5471A> G (p.Asp1824Gly)SNVLikely pathogenicrs587784150GRCh37Chr 5, 176696770: 176696770
73NSD1NM_022455.4(NSD1): c.5566C> T (p.Gln1856Ter)SNVPathogenicrs587784151GRCh37Chr 5, 176700729: 176700729
74NSD1NM_022455.4(NSD1): c.5618_5619delTA (p.Ile1873Lysfs)deletionPathogenicrs587784152GRCh37Chr 5, 176700781: 176700782
75NSD1NM_022455.4(NSD1): c.5712delC (p.Cys1905Valfs)deletionPathogenicrs587784153GRCh37Chr 5, 176707655: 176707655
76NSD1NM_022455.4(NSD1): c.5740C> T (p.Arg1914Cys)SNVPathogenicrs587784154GRCh37Chr 5, 176707683: 176707683
77NSD1NM_022455.4(NSD1): c.5741G> C (p.Arg1914Pro)SNVLikely pathogenicrs587784155GRCh37Chr 5, 176707684: 176707684
78NSD1NM_022455.4(NSD1): c.5798A> G (p.Asn1933Ser)SNVLikely pathogenicrs587784156GRCh38Chr 5, 177280740: 177280740
79NSD1NM_022455.4(NSD1): c.5800C> T (p.Gln1934Ter)SNVPathogenicrs587784157GRCh37Chr 5, 176707743: 176707743
80NSD1NM_022455.4(NSD1): c.5805C> A (p.Cys1935Ter)SNVPathogenicrs587784158GRCh38Chr 5, 177280747: 177280747
81NSD1NM_022455.4(NSD1): c.5862G> C (p.Trp1954Cys)SNVPathogenicrs587784160GRCh37Chr 5, 176707805: 176707805
82NSD1NM_022455.4(NSD1): c.5885T> C (p.Ile1962Thr)SNVPathogenicrs587784162GRCh37Chr 5, 176707828: 176707828
83NSD1NM_022455.4(NSD1): c.5893-2A> GSNVPathogenicrs587784163GRCh37Chr 5, 176709464: 176709464
84NSD1NM_022455.4(NSD1): c.5903delT (p.Val1968Glyfs)deletionPathogenicrs587784164GRCh37Chr 5, 176709476: 176709476
85NSD1NM_022455.4(NSD1): c.5911delT (p.Tyr1971Metfs)deletionPathogenicrs587784165GRCh38Chr 5, 177282483: 177282483
86NSD1NM_022455.4(NSD1): c.5918G> T (p.Gly1973Val)SNVLikely pathogenicrs587784166GRCh37Chr 5, 176709491: 176709491
87NSD1NM_022455.4(NSD1): c.5927T> A (p.Ile1976Lys)SNVLikely pathogenicrs587784167GRCh38Chr 5, 177282499: 177282499
88NSD1NM_022455.4(NSD1): c.5938G> T (p.Glu1980Ter)SNVPathogenicrs587784168GRCh37Chr 5, 176709511: 176709511
89NSD1NM_022455.4(NSD1): c.5951G> A (p.Arg1984Gln)SNVPathogenicrs587784169GRCh37Chr 5, 176709524: 176709524
90NSD1NM_022455.4(NSD1): c.5965C> T (p.Gln1989Ter)SNVPathogenicrs587784170GRCh37Chr 5, 176709538: 176709538
91NSD1NM_022455.4(NSD1): c.5989T> C (p.Tyr1997His)SNVPathogenicrs587784171GRCh37Chr 5, 176709562: 176709562
92NSD1NM_022455.4(NSD1): c.6013C> T (p.Arg2005Ter)SNVPathogenicrs587784173GRCh37Chr 5, 176710791: 176710791
93NSD1NM_022455.4(NSD1): c.6014G> A (p.Arg2005Gln)SNVPathogenicrs587784174GRCh38Chr 5, 177283791: 177283791
94NSD1NM_022455.4(NSD1): c.6043T> C (p.Tyr2015His)SNVLikely pathogenicrs587784175GRCh37Chr 5, 176710821: 176710821
95NSD1NM_022455.4(NSD1): c.6049C> T (p.Arg2017Trp)SNVPathogenicrs587784176GRCh37Chr 5, 176710827: 176710827
96NSD1NM_022455.4(NSD1): c.6050G> A (p.Arg2017Gln)SNVPathogenicrs587784177GRCh37Chr 5, 176710828: 176710828
97NSD1NM_022455.4(NSD1): c.6059A> G (p.Asn2020Ser)SNVPathogenicrs587784178GRCh37Chr 5, 176710837: 176710837
98NSD1NM_022455.4(NSD1): c.6070C> T (p.Gln2024Ter)SNVPathogenicrs587784179GRCh37Chr 5, 176710848: 176710848
99NSD1NM_022455.4(NSD1): c.6080G> C (p.Cys2027Ser)SNVLikely pathogenicrs587784180GRCh37Chr 5, 176710858: 176710858
100NSD1NM_022455.4(NSD1): c.6086C> T (p.Thr2029Ile)SNVLikely pathogenicrs587784181GRCh38Chr 5, 177283863: 177283863
101NSD1NM_022455.4(NSD1): c.6157G> T (p.Glu2053Ter)SNVPathogenicrs587784183GRCh38Chr 5, 177288824: 177288824
102NSD1NM_022455.4(NSD1): c.6165delC (p.Phe2056Serfs)deletionPathogenicrs587784184GRCh37Chr 5, 176715833: 176715833
103NSD1NM_022455.4(NSD1): c.6258+1G> ASNVPathogenicrs587784185GRCh37Chr 5, 176715927: 176715927
104NSD1NM_022455.4(NSD1): c.6291delG (p.Lys2098Asnfs)deletionPathogenicrs587784186GRCh37Chr 5, 176718987: 176718987
105NSD1NM_022455.4(NSD1): c.6307C> T (p.Gln2103Ter)SNVPathogenicrs587784187GRCh37Chr 5, 176719003: 176719003
106NSD1NM_022455.4(NSD1): c.6310C> T (p.Gln2104Ter)SNVPathogenicrs587784188GRCh37Chr 5, 176719006: 176719006
107NSD1NM_022455.4(NSD1): c.6311_6312delAG (p.Gln2104Argfs)deletionPathogenicrs587784189GRCh38Chr 5, 177292006: 177292007
108NSD1NM_022455.4(NSD1): c.6349C> T (p.Arg2117Ter)SNVPathogenicrs587784190GRCh37Chr 5, 176719045: 176719045
109NSD1NM_022455.4(NSD1): c.6356A> G (p.Asp2119Gly)SNVPathogenicrs587784191GRCh38Chr 5, 177292051: 177292051
110NSD1NM_022455.4(NSD1): c.6366delT (p.Phe2122Leufs)deletionPathogenicrs587784192GRCh37Chr 5, 176719062: 176719062
111NSD1NM_022455.4(NSD1): c.6377A> T (p.Asp2126Val)SNVPathogenicrs587784193GRCh37Chr 5, 176719073: 176719073
112NSD1NM_022455.4(NSD1): c.6413G> A (p.Cys2138Tyr)SNVLikely pathogenicrs587784195GRCh37Chr 5, 176719109: 176719109
113NSD1NM_022455.4(NSD1): c.6418A> G (p.Lys2140Glu)SNVLikely pathogenicrs587784196GRCh38Chr 5, 177292113: 177292113
114NSD1NM_022455.4(NSD1): c.6421delG (p.Val2141Phefs)deletionPathogenicrs587784197GRCh37Chr 5, 176719117: 176719117
115NSD1NM_022455.4(NSD1): c.6431delC (p.Ala2144Glufs)deletionPathogenicrs587784198GRCh38Chr 5, 177292126: 177292126
116NSD1NM_022455.4(NSD1): c.6454C> T (p.Arg2152Ter)SNVPathogenicrs587784199GRCh37Chr 5, 176719150: 176719150
117NSD1NM_022455.4(NSD1): c.6455G> A (p.Arg2152Gln)SNVPathogenicrs587784200GRCh37Chr 5, 176719151: 176719151
118NSD1NM_022455.4(NSD1): c.6472G> T (p.Glu2158Ter)SNVPathogenicrs587784201GRCh37Chr 5, 176720841: 176720841
119NSD1NM_022455.4(NSD1): c.6476G> A (p.Cys2159Tyr)SNVPathogenicrs587784202GRCh37Chr 5, 176720845: 176720845
120NSD1NM_022455.4(NSD1): c.6485A> C (p.His2162Pro)SNVLikely pathogenicrs587784204GRCh37Chr 5, 176720854: 176720854
121NSD1NM_022455.4(NSD1): c.6500G> A (p.Cys2167Tyr)SNVLikely pathogenicrs587784205GRCh38Chr 5, 177293868: 177293868
122NSD1NM_022455.4(NSD1): c.6521_6523delTCT (p.Phe2174del)deletionPathogenicrs587784206GRCh37Chr 5, 176720890: 176720892
123NSD1NM_022455.4(NSD1): c.6539_6557del19 (p.Ser2180Ilefs)deletionPathogenicrs587784207GRCh38Chr 5, 177293907: 177293925
124NSD1NM_022455.4(NSD1): c.6557A> G (p.His2186Arg)SNVLikely pathogenicrs587784208GRCh37Chr 5, 176720926: 176720926
125NSD1NM_022455.4(NSD1): c.6559C> T (p.Arg2187Ter)SNVPathogenicrs587784209GRCh37Chr 5, 176720928: 176720928
126NSD1NM_022455.4(NSD1): c.6604T> A (p.Cys2202Ser)SNVPathogenicrs587784210GRCh37Chr 5, 176720973: 176720973
127NSD1NM_022455.4(NSD1): c.6630_6644delCAATCCTCTGGAACC (p.Asn2211_Pro2215del)deletionLikely pathogenicrs587784211GRCh37Chr 5, 176720999: 176721013
128NSD1NM_022455.4(NSD1): c.6656G> A (p.Arg2219His)SNVPathogenicrs587784214GRCh38Chr 5, 177294024: 177294024
129NSD1NM_022455.4(NSD1): c.7939_7940delCA (p.Gln2647Valfs)deletionPathogenicrs587784219GRCh38Chr 5, 177295307: 177295308
130NSD1NM_022455.4(NSD1): c.8036delC (p.Pro2679Glnfs)deletionPathogenicrs587784220GRCh37Chr 5, 176722405: 176722405
131NSD1NM_022455.4(NSD1): c.8043delT (p.Asn2682Thrfs)deletionPathogenicrs587784221GRCh38Chr 5, 177295411: 177295411
132NSD1NM_022455.4(NSD1): c.5332C> T (p.Arg1778Ter)SNVPathogenicrs794727176GRCh37Chr 5, 176696631: 176696631
133NSD1NM_022455.4(NSD1): c.4217_4220delGAAA (p.Arg1406Asnfs)deletionPathogenicrs794727930GRCh37Chr 5, 176666781: 176666784
134NSD1NM_022455.4(NSD1): c.1742delA (p.Glu581Aspfs)deletionPathogenicrs794729232GRCh37Chr 5, 176637142: 176637142
135NSD1NM_022455.4(NSD1): c.5950C> T (p.Arg1984Ter)SNVPathogenicrs797045057GRCh37Chr 5, 176709523: 176709523
136NSD1NM_022455.4(NSD1): c.7966C> T (p.Gln2656Ter)SNVPathogenicrs797045058GRCh37Chr 5, 176722335: 176722335
137NSD1NM_022455.4(NSD1): c.(?_-138)_(7458_?)deldeletionPathogenicChr na, -1: -1
138NSD1NM_022455.4(NSD1): c.1264dupG (p.Glu422Glyfs)duplicationPathogenicrs797045804GRCh37Chr 5, 176636664: 176636664
139NSD1NM_022455.4(NSD1): c.1802dupA (p.Cys602Valfs)duplicationPathogenicrs797045805GRCh37Chr 5, 176637202: 176637202
140NSD1NM_022455.4(NSD1): c.2167dupA (p.Thr723Asnfs)duplicationPathogenicrs797045807GRCh38Chr 5, 177210566: 177210566
141NSD1NM_022455.4(NSD1): c.2190_2191delCTinsG (p.Ser731Leufs)indelPathogenicrs797045808GRCh38Chr 5, 177210589: 177210590
142NSD1NM_022455.4(NSD1): c.2859dupT (p.Lys954Terfs)duplicationPathogenicrs797045809GRCh38Chr 5, 177211258: 177211258
143NSD1NM_022455.4(NSD1): c.3146dupA (p.Thr1050Aspfs)duplicationPathogenicrs797045810GRCh38Chr 5, 177211545: 177211545
144NSD1NM_022455.4(NSD1): c.3259_3265delAAAGAGG (p.Lys1087Ilefs)deletionPathogenicrs797045811GRCh38Chr 5, 177211658: 177211664
145NSD1NM_022455.4(NSD1): c.3316dupT (p.Ser1106Phefs)duplicationPathogenicrs797045812GRCh38Chr 5, 177211715: 177211715
146NSD1NM_022455.4(NSD1): c.3549dupT (p.Glu1184Terfs)duplicationPathogenicrs797045813GRCh38Chr 5, 177211948: 177211948
147NSD1NM_022455.4(NSD1): c.3578dupG (p.Ser1193Argfs)duplicationPathogenicrs797045814GRCh38Chr 5, 177211977: 177211977
148NSD1NM_022455.4(NSD1): c.3939dupA (p.Glu1314Argfs)duplicationPathogenicrs797045815GRCh37Chr 5, 176665255: 176665255
149NSD1NM_022455.4(NSD1): c.4020delA (p.Glu1341Serfs)deletionPathogenicrs797045816GRCh38Chr 5, 177238335: 177238335
150NSD1NM_022455.4(NSD1): c.4282dupG (p.Asp1428Glyfs)duplicationPathogenicrs797045817GRCh37Chr 5, 176666846: 176666846
151NSD1NM_022455.4(NSD1): c.4301dupA (p.Cys1435Valfs)duplicationPathogenicrs797045818GRCh38Chr 5, 177239864: 177239864
152NSD1NM_022455.4(NSD1): c.4479_4488dupAGAGATTCCA (p.Gly1497Argfs)duplicationPathogenicrs797045819GRCh38Chr 5, 177246778: 177246787
153NSD1NM_022455.4(NSD1): c.4732dupA (p.Arg1578Lysfs)duplicationPathogenicrs797045820GRCh38Chr 5, 177251820: 177251820
154NSD1NM_022455.4(NSD1): c.4882_4883insAA (p.Met1628Lysfs)insertionPathogenicrs797045821GRCh38Chr 5, 177257067: 177257068
155NSD1NM_022455.4(NSD1): c.5408_5411delACTAins9indelPathogenicrs797045822GRCh38Chr 5, 177269706: 177269709
156NSD1NM_022455.4(NSD1): c.5407_5410dupGACT (p.Tyr1804Terfs)duplicationPathogenicrs797045823GRCh38Chr 5, 177269705: 177269708
157NSD1NM_022455.4(NSD1): c.5790dupC (p.Cys1931Leufs)duplicationPathogenicrs797045824GRCh38Chr 5, 177280732: 177280732
158NSD1NM_022455.4(NSD1): c.5990A> G (p.Tyr1997Cys)SNVPathogenicrs797045825GRCh38Chr 5, 177282562: 177282562
159NSD1NM_022455.4(NSD1): c.6094_6095dupTG (p.Trp2032Cysfs)duplicationPathogenicrs797045826GRCh38Chr 5, 177283871: 177283872
160NSD1NM_022455.4(NSD1): c.6112dupA (p.Thr2038Asnfs)duplicationPathogenicrs797045827GRCh38Chr 5, 177283889: 177283889
161NSD1NM_022455.4(NSD1): c.6218dupG (p.Ala2074Serfs)duplicationPathogenicrs797045828GRCh38Chr 5, 177288885: 177288885
162NSD1NM_022455.4(NSD1): c.6290dupA (p.Lys2098Glufs)duplicationPathogenicrs797045829GRCh38Chr 5, 177291985: 177291985
163NSD1NM_022455.4(NSD1): c.6307_6308insTGTGC (p.Gln2103Leufs)insertionPathogenicrs797045830GRCh38Chr 5, 177292002: 177292003
164NSD1NM_022455.4(NSD1): c.6344dupA (p.Glu2116Glyfs)duplicationPathogenicrs797045831GRCh38Chr 5, 177292039: 177292039
165NSD1NM_022455.4(NSD1): c.6459_6463+5deldeletionPathogenicrs797045832GRCh38Chr 5, 177292154: 177292163
166NSD1NM_022455.4(NSD1): c.6541_6543dupTCC (p.Ser2181_Phe2182insSer)duplicationLikely pathogenicrs797045833GRCh38Chr 5, 177293909: 177293911
167NSD1NM_022455.4(NSD1): c.7783A> T (p.Lys2595Ter)SNVPathogenicrs797045834GRCh37Chr 5, 176722152: 176722152
168NSD1NM_022455.4(NSD1): c.2350C> T (p.Gln784Ter)SNVLikely pathogenicrs374740802GRCh38Chr 5, 177210749: 177210749
169NSD1NM_022455.4(NSD1): c.5304-1G> CSNVLikely pathogenicrs863224905GRCh37Chr 5, 176696602: 176696602
170NSD1NM_022455.4(NSD1): c.6534dupC (p.Ser2180Glnfs)duplicationPathogenicrs879253860GRCh38Chr 5, 177293902: 177293902
171NSD1NM_022455.4(NSD1): c.6440dupT (p.Asn2148Glnfs)duplicationPathogenicrs886042725GRCh37Chr 5, 176719136: 176719136
172NSD1NM_022455.4(NSD1): c.3382dupT (p.Ser1128Phefs)duplicationPathogenicrs886043780GRCh37Chr 5, 176638782: 176638782
173NSD1NM_022455.4(NSD1): c.6152-1G> ASNVPathogenicrs886044326GRCh37Chr 5, 176715819: 176715819
174NSD1NM_022455.4(NSD1): c.6019A> T (p.Ile2007Phe)SNVLikely pathogenicGRCh38Chr 5, 177283796: 177283796
175NSD1NSD1, 1.9-MB DELdeletionPathogenicChr na, -1: -1
176NSD1NM_022455.4(NSD1): c.1310C> G (p.Ser437Ter)SNVPathogenicrs121908067GRCh37Chr 5, 176636710: 176636710
177NSD1NSD1, 1-BP DEL, 3536AdeletionPathogenicChr na, -1: -1
178NSD1NSD1, 1-BP INS, 5998TinsertionPathogenicChr na, -1: -1
179NSD1NSD1, IVS20DS, G-A, +1SNVPathogenicChr na, -1: -1
180NSD1NM_022455.4(NSD1): c.6429C> G (p.His2143Gln)SNVPathogenicrs121908068GRCh37Chr 5, 176719125: 176719125
181NSD1NM_022455.4(NSD1): c.6548G> C (p.Cys2183Ser)SNVPathogenicrs121908069GRCh37Chr 5, 176720917: 176720917
182NSD1NM_022455.4(NSD1): c.6450dupC (p.Lys2151Glnfs)duplicationPathogenicrs864309639GRCh37Chr 5, 176719146: 176719146
183NSD1NSD1, 1-BP DEL, 896CdeletionPathogenicChr na, -1: -1
184NSD1NM_022455.4(NSD1): c.3958C> T (p.Arg1320Ter)SNVPathogenicrs121908070GRCh37Chr 5, 176665274: 176665274
185NSD1NM_022455.4(NSD1): c.6605G> A (p.Cys2202Tyr)SNVPathogenicrs121908071GRCh37Chr 5, 176720974: 176720974
186NSD1NM_022455.4(NSD1): c.2349delA (p.Lys783Asnfs)deletionPathogenicrs398124374GRCh37Chr 5, 176637749: 176637749
187NSD1NM_022455.4(NSD1): c.5279_5282delTCTG (p.Val1760Glyfs)deletionPathogenicrs398124379GRCh37Chr 5, 176694695: 176694698
188NSD1NM_022455.4(NSD1): c.6463+1G> ASNVPathogenicrs398124381GRCh37Chr 5, 176719160: 176719160
189NSD1NM_022455.4(NSD1): c.6538_6539insC (p.Ser2180Thrfs)insertionPathogenicrs398124383GRCh37Chr 5, 176720907: 176720908

Copy number variations for Sotos Syndrome 1 from CNVD:

6 (show all 39)
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
113368719690000012600000DeletionANGPTL6Sotos syndrome
213368819690000012600000DeletionC19orf38Sotos syndrome
313368919690000012600000DeletionC3P1Sotos syndrome
413369019690000012600000DeletionCARM1Sotos syndrome
513369119690000012600000DeletionCOL5A3Sotos syndrome
613369219690000012600000DeletionDNM2Sotos syndrome
713369319690000012600000DeletionDNMT1Sotos syndrome
813369419690000012600000DeletionEIF3GSotos syndrome
913369519690000012600000DeletionILF3Sotos syndrome
1013369619690000012600000DeletionOLFM2Sotos syndrome
1113369719690000012600000DeletionOR7D2Sotos syndrome
1213369819690000012600000DeletionP2RY11Sotos syndrome
1313369919690000012600000DeletionPPANSotos syndrome
1413370019690000012600000DeletionQTRT1Sotos syndrome
1513370119690000012600000DeletionRDH8Sotos syndrome
1613370219690000012600000DeletionS1PR2Sotos syndrome
1713370319690000012600000DeletionSMARCA4Sotos syndrome
1813370419690000012600000DeletionTMED1Sotos syndrome
1913370519690000012600000DeletionYIPF2Sotos syndrome
2013370619690000012600000DeletionZNF177Sotos syndrome
2113370719690000012600000DeletionZNF317Sotos syndrome
2213370819690000012600000DeletionZNF559Sotos syndrome
2313370919690000012600000DeletionZNF561Sotos syndrome
2413371019690000012600000DeletionZNF699Sotos syndrome
2513371119690000012600000DeletionZNF846Sotos syndrome
2613371319690000012600000DuplicationFDX1LSotos syndrome
2713371463912453439163498DuplicationGLP1RSotos syndrome
2813371519690000012600000DuplicationICAM3Sotos syndrome
2913371619690000012600000DuplicationICAM5Sotos syndrome
3013371719690000012600000DuplicationRAVER1Sotos syndrome
3113371819690000012600000DuplicationTYK2Sotos syndrome
3213371919690000012600000DuplicationZGLP1Sotos syndrome
331964505167400000180857866Copy numberNSD1Sotos syndrome
341964525167400000180857866DeletionNSD1Sotos syndrome
351964535167400000180857866DeletionNSD1Sotos syndrome
361964555167400000180857866MicrodeletionSotos syndrome
371973035176492685176659820Copy numberNSD1Sotos syndrome
381973145176500000180857866Copy numberNSD1Sotos syndrome
391973165176500000180857866DeletionSotos syndrome

Expression for genes affiliated with Sotos Syndrome 1

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Search GEO for disease gene expression data for Sotos Syndrome 1.

Pathways for genes affiliated with Sotos Syndrome 1

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GO Terms for genes affiliated with Sotos Syndrome 1

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Biological processes related to Sotos Syndrome 1 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1embryonic organ developmentGO:004856810.3SETD2, ZFP36L1
2histone H3-K36 methylationGO:001045210.0NSD1, SETD2
3glycosaminoglycan metabolic processGO:00302039.9B4GALT7, GPC3
4glycosaminoglycan biosynthetic processGO:00060249.8B4GALT7, GPC3, XYLT2

Molecular functions related to Sotos Syndrome 1 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1histone methyltransferase activity (H3-K36 specific)GO:004697510.5NSD1, SETD2
2histone-lysine N-methyltransferase activityGO:001802410.0NSD1, SETD2

Sources for Sotos Syndrome 1

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet