MCID: RTT002
MIFTS: 79

Rett Syndrome malady

Genetic diseases, Rare diseases, Mental diseases, Neuronal diseases, Fetal diseases categories

Aliases & Classifications for Rett Syndrome

About this section
Sources:
49OMIM, 10Disease Ontology, 11diseasecard, 68Wikipedia, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 46NINDS, 47Novoseek, 12DISEASES, 51Orphanet, 24GTR, 35MedlinePlus, 65UMLS, 36MeSH, 67UniProtKB/Swiss-Prot, 59SNOMED-CT, 42NCIt, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 27ICD10, 34MedGen
See all sources

Aliases & Descriptions for Rett Syndrome:

Name: Rett Syndrome 49 10 11 68 45 23 46 47 12 51 35 65 36 67
Atypical Rett Syndrome 45 51 24
Rett's Disorder 10 22 23
Rts 68 23 67
Rtt 68 23 67
Autism-Dementia-Ataxia-Loss of Purposeful Hand Use Syndrome 68 23
Cerebroatrophic Hyperammonemia 10 68
Rett Syndrome Variant 51 24
Rett Disorder 23 67
 
Autism, Dementia, Ataxia, and Loss of Purposeful Hand Use 45
Autism-Dementia-Ataxia-Loss of Purposeful Hand Use 67
Rett Syndrome, Preserved Speech Variant 49
Rett Syndrome Preserved Speech Variant 67
Rett Syndrome Zappella Variant 67
Rett Syndrome, Atypical 49
Rett Like Syndrome 45
Rett's Syndrome 23
Atypical Rtt 51


Classifications:



Characteristics (Orphanet epidemiological data):

51
rett syndrome:
Inheritance: X-linked dominant; Prevalence: 1-9/100000 (Europe); Age of onset: Infancy,Neonatal; Age of death: adult
atypical rett syndrome:
Inheritance: Autosomal dominant,X-linked dominant; Age of onset: Infancy,Neonatal; Age of death: any age


External Ids:

OMIM49 312750
Disease Ontology10 DOID:1206
NCIt42 C75488
Orphanet51 778, 3095
SNOMED-CT59 68618008, 192583003
ICD10 via Orphanet28 F84.2
MESH via Orphanet37 D015518
UMLS via Orphanet66 C0035372
ICD1027 F84.2

Summaries for Rett Syndrome

About this section
NIH Rare Diseases:45 Atypical rett syndrome is a neurodevelopmental disorder that is diagnosed when a child has some of the symptoms of rett syndrome but does not meet all the diagnostic criteria. like the classic form of rett syndrome, atypical rett syndrome mostly affects girls. children with atypical rett syndrome can have symptoms that are either milder or more severe than those seen in rett syndrome. several subtypes of atypical rett syndrome have been defined:the early-onset seizure type is characterized by seizures in the first months of life with later development of rett features (including developmental problems, loss of language skills, and repeated hand wringing or hand washing movements). it is frequently caused by mutations in the x-linked cdkl5 gene (xp22). the congenital variant is the most severe form of atypical rett syndrome, with onset of classic rett features during the first three months of life. this variant is generally caused by mutations in the foxg1 gene (14q11-q13). the forme fruste is a milder variant with onset in early childhood and an incomplete and prolonged course. the late childhood regression form is characterized by a normal head circumference and by a more gradual and later onset (late childhood) regression of language and motor skills. the preserved speech variant is marked by recovery of some verbal and manual skills and is caused in at least some cases by mutations in the mecp2 (xq28) gene, which is also responsible for the majority of cases of classic rett syndrome. diagnosis relies on clinical evaluation using the diagnostic criteria for atypical rett syndrome which was defined by hagberg in 1994. molecular genetic testing may confirm the diagnosis. last updated: 2/12/2013

MalaCards based summary: Rett Syndrome, also known as atypical rett syndrome, is related to encephalopathy, neonatal severe and fetal alcohol syndrome, and has symptoms including stereotypic behavior, gait disturbance and abnormality of the voice. An important gene associated with Rett Syndrome is MECP2 (Methyl CpG Binding Protein 2), and among its related pathways are Sympathetic Nerve Pathway (Pre- and Post- Ganglionic Junction) and Coregulation of Androgen receptor activity. Affiliated tissues include brain, bone and testes, and related mouse phenotypes are taste/olfaction and craniofacial.

Disease Ontology:10 A pervasive developmental disease that is a neurological and developmental disorder that mostly occurs in females and is caused by a mutation on the mecp2 gene on the x chromosome. infants with rett syndrome seem to grow and develop normally at first, but then stop developing and even lose skills and abilities.

MedlinePlus:35 Rett syndrome is a rare genetic disease that causes developmental and nervous system problems, mostly in girls. it's related to autism spectrum disorder. babies with rett syndrome seem to grow and develop normally at first. between 3 months and 3 years of age, though, they stop developing and even lose some skills. symptoms include loss of speech loss of hand movements such as grasping compulsive movements such as hand wringing balance problems breathing problems behavior problems learning problems or intellectual disability rett syndrome has no cure. you can treat some of the symptoms with medicines, surgery, and physical and speech therapy. most people with rett syndrome live into middle age and beyond. they will usually need care throughout their lives. nih: national institute of child health and human development

Genetics Home Reference:23 Rett syndrome is a brain disorder that occurs almost exclusively in girls. The most common form of the condition is known as classic Rett syndrome. After birth, girls with classic Rett syndrome have 6 to 18 months of apparently normal development before developing severe problems with language and communication, learning, coordination, and other brain functions. Early in childhood, affected girls lose purposeful use of their hands and begin making repeated hand wringing, washing, or clapping motions. They tend to grow more slowly than other children and have a small head size (microcephaly). Other signs and symptoms that can develop include breathing abnormalities, seizures, an abnormal side-to-side curvature of the spine (scoliosis), and sleep disturbances.

OMIM:49 Rett syndrome is a neurodevelopmental disorder that occurs almost exclusively in females. It is characterized by... (312750) more...

UniProtKB/Swiss-Prot:67 Rett syndrome: An X-linked dominant neurodevelopmental disorder, and one of the most common causes of mental retardation in females. Patients appear to develop normally until 6 to 18 months of age, then gradually lose speech and purposeful hand movements, and develop microcephaly, seizures, autism, ataxia, mental retardation and stereotypic hand movements. After initial regression, the condition stabilizes and patients usually survive into adulthood.

Wikipedia:68 Rett syndrome (RTT), originally termed cerebroatrophic hyperammonemia, is a rare genetic postnatal... more...

Related Diseases for Rett Syndrome

About this section

Diseases in the Rett Syndrome family:

Rett Syndrome, Congenital Variant

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

(show top 50)    (show all 841)
idRelated DiseaseScoreTop Affiliating Genes
1encephalopathy, neonatal severe30.6MECP2, MRXSL
2fetal alcohol syndrome30.4NTNG1, NTNG2
3speech disorder30.3ATRX, CDKL5, MECP2, TCF4
4parkinson disease, late-onset30.3BDNF, CHAT, GLUD2, MAP2, TH
5huntington disease29.9BDNF, CHAT, PRPF40A, TH
6mental retardation, x-linked, syndromic 1328.2ATRX, BDNF, CDKL5, CHAT, DLX5, DLX6
7neuronitis10.7
8intellectual disability10.7
9breast cancer10.7
10autism susceptibility, x-linked 210.7
11child syndrome10.7
12x-linked disease10.7
13kid syndrome10.7
14classic rett syndrome10.7
15leukemia10.7
16adult syndrome10.6
17rett syndrome, congenital variant10.6
18developmental disabilities10.6
19genetic brain disorders10.5
20prostate cancer10.5
21colorectal cancer10.5
22prostatitis10.5
23scoliosis10.5
24lung cancer10.5
25adenocarcinoma10.5
26speech and communication disorders10.5
27sarcoma10.5
28melanoma10.5
29epileptic encephalopathy, early infantile, 210.5
30spinal and bulbar muscular atrophy of kennedy10.5
31seizure disorder10.5
32hepatitis10.4
33gastric cancer10.4
34radiation induced cancer10.4
35mental retardation, x-linked 310.4
36good syndrome10.4
37wells syndrome10.4
38tongue squamous cell carcinoma10.4
39nervous system cancer10.4
40thyroiditis10.4
41malaria10.4
42squamous cell carcinoma, head and neck10.4
43cervical squamous cell carcinoma10.4
44myeloid leukemia10.4
45gastrointestinal system cancer10.4
46autism spectrum disorder10.4
47encephalopathy10.4
48hepatocellular carcinoma10.4
49thoracic cancer10.4
50neuroectodermal tumor10.4

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



Diseases related to rett syndrome

Symptoms for Rett Syndrome

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Symptoms by clinical synopsis from OMIM:

312750

Clinical features from OMIM:

312750

Symptoms:

 51 (show all 46)
  • skull/cranial anomalies
  • abnormal cry/voice/phonation disorder/nasal speech
  • abnormal gait
  • movement disorder
  • tics/stereotypias
  • execution movement disorder/dysmetria/bradykinesia/akinesia/apraxia
  • speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • psychic/psychomotor regression/dementia/intellectual decline
  • psychic/behavioural troubles
  • x-linked dominant inheritance
  • anomalies of eyes and vision
  • kyphosis
  • scoliosis
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • cortical atrophy without hydrocephaly/cerebral hemiatrophy/subcortical atrophy
  • ataxia/incoordination/trouble of the equilibrium
  • tremor
  • dystonia/torticollis/writer's cramp/blepharospasms
  • hypertonia/spasticity/rigidity/stiffness
  • seizures/epilepsy/absences/spasms/status epilepticus
  • sleep and vigilance disorders
  • humour troubles/anxiety/depression/apathy/euphoria/irritability
  • muscle weakness/flaccidity
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • microcephaly
  • hepatomegaly/liver enlargement (excluding storage disease)
  • respiratory rhythm disorder
  • apnea/sleep apnea
  • cardiac rhythm disorder/arrhythmia
  • dysautonomia/autonomous nervous sytem anomalies
  • hemiplegia/diplegia/hemiparesia/limb palsy
  • autism/autistic disoders
  • auto-aggressivity/auto-mutilation
  • muscle hypotrophy/atrophy/dystrophy/agenesis/amyotrophy
  • osteoporosis/osteopenia/demineralisation/osteomalacia/rickets
  • restricted joint mobility/joint stiffness/ankylosis
  • early death/lethality
  • fine hair
  • acrocyanosis/raynaud's phenomenon/vasomotor disorders
  • eeg anomalies
  • hypotonia
  • short hand/brachydactyly
  • short foot/brachydactyly of toes
  • generalized obesity
  • weight loss/loss of appetite/break in weight curve/general health alteration

HPO human phenotypes related to Rett Syndrome:

(show all 67)
id Description Frequency HPO Source Accession
1 stereotypic behavior hallmark (90%) HP:0000733
2 gait disturbance hallmark (90%) HP:0001288
3 abnormality of the voice hallmark (90%) HP:0001608
4 neurological speech impairment hallmark (90%) HP:0002167
5 developmental regression hallmark (90%) HP:0002376
6 cognitive impairment hallmark (90%) HP:0100543
7 abnormality of the eye typical (50%) HP:0000478
8 seizures typical (50%) HP:0001250
9 hypertonia typical (50%) HP:0001276
10 muscle weakness typical (50%) HP:0001324
11 tremor typical (50%) HP:0001337
12 respiratory insufficiency typical (50%) HP:0002093
13 cerebral cortical atrophy typical (50%) HP:0002120
14 incoordination typical (50%) HP:0002311
15 sleep disturbance typical (50%) HP:0002360
16 scoliosis typical (50%) HP:0002650
17 kyphosis typical (50%) HP:0002808
18 acrocyanosis typical (50%) HP:0001063
19 muscular hypotonia typical (50%) HP:0001252
20 gait disturbance typical (50%) HP:0001288
21 neurological speech impairment typical (50%) HP:0002167
22 fine hair typical (50%) HP:0002213
23 eeg abnormality typical (50%) HP:0002353
24 abnormal pattern of respiration typical (50%) HP:0002793
25 microcephaly occasional (7.5%) HP:0000252
26 autism occasional (7.5%) HP:0000717
27 limitation of joint mobility occasional (7.5%) HP:0001376
28 apnea occasional (7.5%) HP:0002104
29 hepatomegaly occasional (7.5%) HP:0002240
30 abnormality of the autonomic nervous system occasional (7.5%) HP:0002270
31 skeletal muscle atrophy occasional (7.5%) HP:0003202
32 reduced bone mineral density occasional (7.5%) HP:0004349
33 hemiplegia/hemiparesis occasional (7.5%) HP:0004374
34 arrhythmia occasional (7.5%) HP:0011675
35 self-injurious behavior occasional (7.5%) HP:0100716
36 brachydactyly syndrome occasional (7.5%) HP:0001156
37 hypertonia occasional (7.5%) HP:0001276
38 obesity occasional (7.5%) HP:0001513
39 weight loss occasional (7.5%) HP:0001824
40 short toe occasional (7.5%) HP:0001831
41 abnormality of the teeth HP:0000164
42 autistic behavior HP:0000729
43 seizures HP:0001250
44 spasticity HP:0001257
45 dystonia HP:0001332
46 x-linked dominant inheritance HP:0001423
47 short foot HP:0001773
48 constipation HP:0002019
49 gastroesophageal reflux HP:0002020
50 gait ataxia HP:0002066
51 truncal ataxia HP:0002078
52 cerebral cortical atrophy HP:0002120
53 intellectual disability, profound HP:0002187
54 motor deterioration HP:0002333
55 eeg abnormality HP:0002353
56 developmental regression HP:0002376
57 scoliosis HP:0002650
58 kyphosis HP:0002808
59 skeletal muscle atrophy HP:0003202
60 bruxism HP:0003763
61 short stature HP:0004322
62 cachexia HP:0004326
63 intermittent hyperventilation HP:0004879
64 ekg HP:0005135
65 prolonged qtc interval HP:0005184
66 postnatal microcephaly HP:0005484
67 gait apraxia HP:0010521

Drugs & Therapeutics for Rett Syndrome

About this section

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

(show top 50)    (show all 53)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
DonepezilapprovedPhase 3260120014-06-43152
Synonyms:
( inverted exclamation markA)-E 2020
1-Benzyl-4-[(5,6-dimethoxy-1-oxoindan-2-yl)methyl]piperidine
120014-06-4
2-[(1-benzylpiperidin-4-yl)methyl]-5,6-dimethoxy-2,3-dihydroinden-1-one
2-[(1-benzylpiperidin-4-yl)methyl]-5,6-dimethoxyindan-1-one
AB1004836
AC-6969
AC1L1FAE
AKOS000277311
Aricept
Aricept ODT
C24H29NO3
CHEBI:53289
CHEMBL502
CID3152
D07869
DB00843
Domepezil
Donaz
Donaz (TN)
 
Donepezil
Donepezil (INN)
Donepezil Hydrochloride
Donepezil [INN:BAN]
Donepezil hydrochloride
Donepezilo
Donepezilum
Eranz
I06-0343
KBio2_002144
KBio2_004712
KBio2_007280
KBioSS_002144
LS-81819
MolPort-000-881-588
MolPort-003-847-014
NCGC00167537-01
Oprea1_188452
Spectrum5_001662
Spectrum_001664
TL8000531
UNII-8SSC91326P
2
DopamineapprovedPhase 3281462-31-7, 51-61-6681
Synonyms:
(3H)-Dopamine
.Beta.-(3,4-Dihydroxyphenyl)ethylamine hydrochloride
.alpha.-(3,4-Dihydroxyphenyl)-.beta.-aminoethane
1,2-Benzenediol, 4-(2-aminoethyl)- (9CI)
1,2-Benzenediol, 4-(2-aminoethyl)-, hydrochloride
1,2-Benzenediol, 4-(2-aminoethyl)-, labeled with tritium
153C5321-5FEE-4B0B-8925-F388F0EEEBD1
2-(3,4-Dihydroxyphenyl)ethylamine
2-(3,4-dihydroxyphenyl)ethylamine
2-benzenediol
3,4-Dihydroxyphenethylamine
3,4-Dihydroxyphenethylamine hydrochloride
3,4-Dihydroxyphenylethylamine
3,4-dihydroxyphenethylamine
3-Hydroxtyramine
3-Hydroxytyramine
3-Hydroxytyramine Hydrobromide
3-Hydroxytyramine hydrochloride
4-(2-Aminoethyl)-1,
4-(2-Aminoethyl)-1,2-benzenediol
4-(2-Aminoethyl)-1,2-bezenediol
4-(2-Aminoethyl)-Pyrocatechol
4-(2-Aminoethyl)benzene-1,2-diol
4-(2-Aminoethyl)catechol
4-(2-Aminoethyl)pyrocatechol
4-(2-Aminoethyl)pyrocatechol hydrochloride
4-(2-aminoethyl)-pyrocatechol
50444-17-2
51-61-6
62-31-7 (HYDROCHLORIDE)
AC1L19S5
AC1Q54AX
AC1Q54AY
AKOS003790978
ASL 279
BIDD:ER0506
BPBio1_001123
BSPBio_001932
Biomol-NT_000001
C03758
CHEBI:18243
CHEMBL59
CID681
D07870
DB00988
Deoxyepinephrine
DivK1c_000780
Dopamin
Dopamina
Dopamina [INN-Spanish]
Dopamine
Dopamine (INN)
Dopamine (USAN)(*hydrochloride*)
Dopamine Hcl
Dopamine Hydrochloride
Dopamine [INN:BAN]
Dopaminum
Dopaminum [INN-Latin]
Dopastat
Dophamine
Dynatra
EINECS 200-110-0
HSDB 3068
Hydroxytyramin
Hydroxytyramine
IDI1_000780
IP 498
Intropin
Intropin [*hydrochloride*]
 
KBio1_000780
KBio2_001492
KBio2_002388
KBio2_002484
KBio2_004060
KBio2_004956
KBio2_005052
KBio2_006628
KBio2_007524
KBio2_007620
KBio3_001152
KBio3_002867
KBio3_002962
KBioGR_001129
KBioGR_002388
KBioGR_002484
KBioSS_001492
KBioSS_002393
KBioSS_002491
KW-3-060
L-DOPAMINE
L000232
LDP
LS-159
Lopac-H-8502
Lopac0_000586
Medopa (TN)
MolPort-001-641-000
NCGC00015519-01
NCGC00015519-08
NCGC00096050-01
NCGC00096050-02
NCGC00096050-03
NCGC00096050-04
NCGC00096050-05
NINDS_000780
NSC 173182
NSC169105
NSC173182
Oprea1_088821
Oxytyramine
Pyrocatechol, 4-(2-aminoethyl)- (8CI)
Pyrocatechol, 4-(2-aminoethyl)-, hydrochloride
Revimine
Revivan
SPBio_001205
SPECTRUM1505155
ST048774
STK301601
Spectrum2_001023
Spectrum3_000406
Spectrum4_000525
Spectrum5_000945
Spectrum_001012
UNII-VTD58H1Z2X
UPCMLD0ENAT5885989:001
a-(3,4-Dihydroxyphenyl)-b-aminoethane
alpha-(3,4-Dihydroxyphenyl)-beta-aminoethane
cMAP_000036
cMAP_000065
dopamine
hydroxytyramine
intropin
m-Hydroxytyramine hydrochloride
nchembio.105-comp9
nchembio.107-comp4
nchembio.284-comp1
nchembio.78-comp16
nchembio.89-comp3
nchembio705-8
nchembio801-comp8
3
DextromethorphanapprovedPhase 3, Phase 2113125-71-35360696, 5362449
Synonyms:
( )-3-Methoxy-N-methylmorphinon
( )-cis-1,3,4,9,10,10a-Hexahydro-6-methoxy-11-methyl-2H-10,4alpha-iminoethanophenanthren
(+)-3-Methoxy-17-methylmorphinan
(-)-3-Methoxy-N-methylmorphinan
(9alpha,13alpha,14alpha)-17-methyl-3-(methyloxy)morphinan
125-69-9 (hydrobromide)
125-70-2
125-71-3
18046-32-7
18609-21-7 (hydrochloride)
3-Methoxy-17-methyl-9alpha,13alpha,14alpha-morphinan
3-Methoxy-17-methylmorphinan
32062-10-5
4-21-00-01367 (Beilstein Handbook Reference)
6700-34-1 (hydrobromide, mono-hydrate)
9alpha,13alpha,14alpha-Morphinan, 3-methoxy-17-methyl- (8CI)
AC-13098
AC1L1EYT
Albutussin
Antussan
BA 2666
BPBio1_000503
BRD-K33211335-337-03-7
BRN 0088549
BSPBio_000457
Balminil DM
Balminil DM Children
Bayer Select Flu Relief
Bayer Select Head & Chest Cold
Bayer Select Night Time Cold
Benylin Adult Formula Cough Suppressant
Benylin DM
Benylin DM (TN)
Benylin DM 12 Hour
Benylin DM for Children
Benylin DM for Children 12 Hour
Benylin Pediatric Cough Suppressant
C06947
CHEBI:128891
CHEBI:4470
CHEBI:580686
CHEMBL22207
CHEMBL52440
CID3008
CID5360696
CID5362449
Calmylin #1
Canfodion
Cerose-DM
Chloraseptic DM
Contac Day & Night Cold/Flu Day Caplets
Contac Jr. Non-drowsy Formula
Contac Nighttime Cold Medicine
Contac Severe Cold Formula Maximum Strength
Contac Severe Cold Formula Non-Drowsy
Coricidin Syrup
Cosylan
Cough Medicine soothing relief
Cough-X
Creo-Terpin
D-Methorphan
D-Methorphan Hydrobromide
D03742
DB00514
DEA No. 9210
DM
DMHM
DXM
Delsym
Delsym (dextromethorphan)
Delsym Cough Formula
Delta-Methorphan
Demorphan
Demorphan Hydrobromide
Demorphan hydrobromide
Demorphine
Destrometerfano
Destrometerfano [DCIT]
Destrometerfano [Dcit]
Dextromethorfan
Dextromethorfan [Czech]
Dextromethorphan
Dextromethorphan (USP)
Dextromethorphan Bromhydrate
Dextromethorphan Bromide
Dextromethorphan Hydrobromide
Dextromethorphan [USP:INN:BAN]
Dextromethorphan hydrobromide
Dextromethorphan hydrobromide OROS Tablets
Dextromethorphan hydrobromide [BAN:JAN]
Dextromethorphan hydrobromide monohydrate
Dextromethorphane
Dextromethorphane [INN-French]
Dextromethorphanum
Dextromethorphanum [INN-Latin]
Dextrometorfano
Dextrometorfano [INN-Spanish]
Dextrometorphan
Dextromorphan
Dextrométhorphane
Dexyromethorphan
 
Diabe-Tuss DM Syrup
Dimacol
Dimetapp DM
Dormetan
Dormethan
Drixoral Cough
Drixoral Cough & Congestion
Drixoral Cough & Sore Throat
EINECS 204-751-7
EINECS 204-752-2
Endotussin-NN
Endotussin-NN Pediatric
HMS2090C08
HSDB 3056
Hihustan M.
Hold
Hold DM
Koffex DM
L-Methorphan
LS-91837
LS-91838
Levomethorphan
Levomethorphan [BAN:DCF:INN]
Levomethorphan [Ban:Dcf:Inn]
Levomethorphan [INN:BAN:DCF]
Levomethorphane
Levomethorphane [INN-French]
Levomethorphanum
Levomethorphanum [INN-Latin]
Levometorfano
Levometorfano [INN-Spanish]
Lopac-D-2531
Lopac0_000337
MLS000758303
Medicon
Methorate
Methorate Hydrobromide
Methorphan
Metrorat
Mielim Y Mas
MolPort-003-940-943
MolPort-004-285-957
Morphinan, 3-methoxy-17-methyl-, (9-alpha,13-alpha,14-alpha)- (9CI)
NCGC00015333-01
NCGC00015333-02
NCGC00015333-04
NCGC00162126-01
Naldecon-DX
Novahistex DM
Novahistine DM
Ornex Severe Cold Formula
Orthoxicol
PediaCare 1
PediaCare Cough-Cold Formula
Pertussin CS Children's Strength
Pertussin DM Extra Strength
Prestwick0_000359
Prestwick1_000359
Prestwick2_000359
Prestwick3_000359
Prestwick_686
RACEMETHORPHAN
Robitussin CF
Robitussin Cold & Cough
Robitussin Cough Calmers
Robitussin DM
Robitussin Maximum Strength Cough
Robitussin Maximum Strength Cough Suppressant
Robitussin Pediatric
Robitussin Pediatric Cough
Robitussin Pediatric Cough & Cold
Robitussin Pediatric Cough Suppressant
Robitussin Pediatric Night Relief
Romilar
Rondec dm
Ru-Tuss Expectorant
SPBio_002378
St. Joseph Cough Syrup
Sucrets 4 Hour Cough Suppressant
Sudafed Cough Syrup
Triaminic
Triaminic DM Long Lasting for Children
Trind-DM
Trocal
Tusilan
Tussade
Tussar DM
Tussi-Organidin
Tussi-Organidin DM NR
Tussi-Organidin DM-S NR
Tylenol Cold No Drowsiness
Tylenol Cold and Flu Multi-Symptom
Tylenol Cold and Flu No Drowsiness
Tylenol Cough + Decongestant Liquid
Tylenol Cough Liquid
Tylenol Flu No Drowsiness Gelcaps
UNII-7355X3ROTS
Vicks 44 Cough Relief
Viro-Med
d-Methorphan
delta-Methorphan
dextromethorphan
l-Methorphan
4
GuaifenesinapprovedPhase 3, Phase 249693-14-13516
Synonyms:
3-(2-Methoxyphenoxy)-1,2-propanediol
3-(O-Methoxyphenoxy)-1,2-propanediol
3-(O-Methoxyphenoxy)-propanediol-1,2
3-O-Methoxyphenoxypropane 1:2-diol
7 Select Mucus Relief
Actifed C
Adult Tussin
Adult Tussin chest congestion
Aeronesin
Air Power
Amonidren
Amonidrin
Aresol
Benylin-E
Bidex-400
Bronchol
Broncomar SF
Careone Adult Tussin
Careone Mucus Er
Careone Mucus Relief childrens
Chest Congestion
Chest Congestion Relief
Chest Congestion childrens
Childrens Chest Congestion
Childrens Chest Congestion Relief
Childrens Mucinex Chest Congestion
Childrens Mucinex Mini-Melts Chest Congestion
Childrens Mucus Relief
Childrens Mucus Relief Expectorant Grape
Childrensrelief Expectorant Grape
Cough
Cough Out
Dg Health Mucus Relief Er
Diabetic Siltussin Das-na
Diabetic Tussin Expectorant
Diabetic Tussin Mucus Relief
Equaline Mucus Er
Equaline Tussin chest congestion
Equate Mucus Er
Equate Tussin Adult Chest Congestion
Expectorant
Expectorant 12 Hour
Gadavyt Cough
Geri-tussin Expectorant
Glycerin ether
Glycerin guaiacolate
Glycero-guaiacol ether
Glycerol a-(2-methoxyphenyl) ether
Glycerol a-(O-methoxyphenyl)ether
Glycerol a-guaiacyl ether
Glycerol a-guiacyl ether
Glycerol a-monoguaiacol ether
Glycerol guaiacolate
Glycerol mono(2-methoxyphenyl) ether
Glycerol-a-guajakolether
Glycerol-alpha-guajakolether
Glyceryl guaiacol
Glyceryl guaiacol ether
Glyceryl guaiacolate
Glyceryl guaiacolate ether
Glyceryl guaiacyl ether
Glyceryl guaicolate
Glyceryl guiacolate
Glycerylguaiacol
Good Neighbor Pharmacy Mucus Er
Good Neighbor Pharmacy Mucus Relief
Good Neighbor Pharmacy Tabtussin
Good Neighbor Pharmacy Tussin
Good Sense Mucus Er
Good Sense Mucus Relief
Good Sense Tussin chest congestion
Guaap
Guaiacol glycerol ether
Guaiacol glyceryl ether
Guaiacolglicerinetere
Guaiacuran
Guaiacurane
Guaiacyl glyceryl ether
Guaiamar
Guaianesin
Guaicol glycerine ether
Guaicol glyceryl ether
Guaifenesin
Guaifenesin Extended Release
Guaifenesine
Guaiphenesin
Guaiphenesine
Guaiphesin
Guiatuss
Health Mart Adult Tussin
Health Mart Mucus Er
Healthmart Chest Congestion Relief
Healthy Accents Childrens Mucus Relief
Healthy Accents Mucus Relief
Healthy Accents Tussin
Healthy Accents Tussin Chest Congestion adult
Hustosil
 
Iophen Nr
Kids-eeze Chest Relief
Leader Adult Tussin Chest Congestion
Leader Adult Tussin Mucus Plus Chest Congestion
Leader Chest Congestion Relief G450
Leader Cough Tabs
Leader Mucus Er
Leader Mucus Relief childrens
Leader Tabtussin 400
Licorice Coughing Liquid
Liqufruta
Liquituss Gg
Little Remedies Little Colds Mucus Relief Expectorant Melt Aways
Methoxypropanediol
Methphenoxydiol
Metossipropandiolo
Mucaplex
Mucinex
Mucinex For Kids
Mucinex Maximum Strength
Mucinex for Kids
Mucosa
Mucus Er
Mucus Extended Release
Mucus Releif Expectorant
Mucus Relief
Mucus Relief Chest
Mucus Relief Er
Mucus Relief Expectorant
Mucus Relief Immediate Release
O-Methoxyphenyl glyceryl ether
Organ-i Nr
Organidin NR
Pancold S
Pneumomist
Preferred Plus Chest Congestion Relief
Preferred Plus Mucus Er
Preferred Plus Tabtussin
Premier Value Chest Congestion Relief
Propanosedyl
Q-tussin
Qtussin
Quality Choice Mucus Relief
Reduton
Refenesen
Refenesen Chest Congestion Relief
Respaire-30
Ritussin Expectorant
Robafen Cough Formula
Robitussin
Robitussin Mucus Plus Chest Congestion
Rompe Pecho
Rompe Pecho EX
Rompe Pecho SF
Rugby Mucus Er
Rx Act Tussin Chest Congestion
Scot-tussin Expectorant Sf Cough
Select Brand Coughtab 400
Select Brand Mucus Relief
Select Brand Tab Tussin
Selecthealth Tussin Dm
Shopko Chest Congestion Relief
Shoprite Adult Tussin
Shoprite Mucus Relief
Siltussin Das
Siltussin Sa
Simpex Guaifenesin
Simply Right Mucus Relief
Smart Sense Childrens Mucus Relief
Smart Sense Mucus Er
Smart Sense Tussin adult
Sunmark Mucus Er
Sunmark Tussin
Sunmark Tussin chest congestion
The Medicine Shoppe Chest Congestion Relief
Topcare Mucus Er
Topcare Mucus Relief
Topcare Tussin Chest Congestion
Topcare Tussin mucus plus chest congestion
Tussin
Tussin Adult chest congestion
Tussin Chest
Tussin Chest Congestion Adult Non Drowsy
Tussin Chest Congestion Non Drowsy
Tussin EXPECTORANT
Tussin Non Drowsy
Tussin Original
Tussin adult chest congestion
Tussin adults non drowsy
Tussin expectorant for adults
Tussin mucus plus chest congestion
Ultra Tuss
Wal Tussin adult chest congestion
a-Glyceryl guaiacol ether
a-Glyceryl guaiacolate ether
alpha-Glyceryl guaiacol ether
alpha-Glyceryl guaiacolate ether
guaiphenesin
p-Cresyl acetate
5
Risperidoneapproved, investigationalPhase 3579106266-06-25073
Synonyms:
106266-06-2
3-(2-(4-(6-Fluoro-1,2-benzisoxazol-3-yl)piperidino)ethyl)-6,7,8,9-tetrahydro-2-methyl-4H-pyrido(1,2-a)pyrimidin-4-one
3-(2-[4-(6-fluoro-benzo[d]isoxazol-3-yl)-piperidin-1-yl]-ethyl)-2-methyl-6,7,8,9-tetrahydro-pyrido[
3-(2-[4-(6-fluoro-benzo[d]isoxazol-3-yl)-piperidin-1-yl]-ethyl)-2-methyl-6,7,8,9-tetrahydropyrido[1,
3-[2-[-4-(6-fluoro-1,2-benzisoxazol-3-yl)-1-piperidinyl]ethyl]-6,7,8,9-tetrahydro-2-methyl-4H-pyrido[1,2-a]pyrimidin-4-one
3-[2-[4-(6-Fluoro-1,2-benzisoxazol-3-yl)-1-piperidinyl]-6,7,8,9-tetrahydro-2-methyl-4H-pyrido [1,2-a] pyrimidin-4-one
3-[2-[4-(6-Fluoro-1,2-benzisoxazol-3-yl)piperi-dino]ethyl]-6,7,8,9-tetrahydro-2-methyl-4H-pyrido[1,2-a]-pyrimidin-4-one
3-[2-[4-(6-fluoro-1,2-benzisoxazol-3-yl)-1-piperidinyl]ethyl]-6,7,8,9-tetrahydro-2-methyl-4H-pyrido[1,2-a]pyrimidin-4-one
3-[2-[4-(6-fluoro-1,2-benzoxazol-3-yl)piperidin-1-yl]ethyl]-2-methyl-6,7,8,9-tetrahydropyrido[1,2-a]pyrimidin-4-one
3-[2-[4-(6-fluoro-benzo[d]isoxazol-3-yl)-piperidin-1-yl]-ethyl]-2-methyl-6,7,8,9-tetrahydropyrido[1,
3-{2-[4-(6-Fluoro-benzo[d]isoxazol-3-yl)-piperidin-1-yl]-ethyl}-2-methyl-6,7,8,9-tetrahydropyrido[1,2-a]pyrimidin-4-one
3-{2-[4-(6-fluoro-1,2-benzisoxazol-3-yl)piperidin-1-yl]ethyl}-2-methyl-6,7,8,9-tetrahydro-4H-pyrido[1,2-a]pyrimidin-4-one
3-{2-[4-(6-fluoro-1,2-benzoxazol-3-yl)piperidin-1-yl]ethyl}-2-methyl-6,7,8,9-tetrahydro-4H-pyrido[1,2-a]pyrimidin-4-one
AB00514010
AC-1306
AC1L1JJU
BIDD:GT0262
BRD-K53857191-001-04-5
BRN 4891881
Belivon
Bio-0092
Buspirone
C23H27FN4O2
CAS-106266-06-2
CHEBI:8871
CHEMBL85
CID5073
CPD000466323
Consta, Risperdal
D00426
D018967
DB00734
EU-0101074
HMS1571M19
HMS2051H07
HMS2089C22
HSDB 7580
I01-1156
Jsp000573
KS-1106
L000510
LS-134196
Lopac-R-118
MLS000759429
MLS001165758
MLS001424081
MolPort-002-885-858
NCGC00015883-01
 
NCGC00015883-02
NCGC00015883-03
NCGC00094352-01
NCGC00094352-02
NCGC00094352-03
NCGC00179257-01
Prestwick0_001029
Prestwick1_001029
R 62 766
R 64 766, Risperdal, Risperidone
R 64,766
R 64766
R-118
R-64,766
R-64-766
R-64766
R64,766
R64766
Rispen
Risperdal
Risperdal (TN)
Risperdal Consta
Risperdal M-Tab
Risperdal M-tab
Risperidal
Risperidal M-Tab
Risperidona
Risperidona [Spanish]
Risperidone
Risperidone (JAN/USAN/INN)
Risperidone (RIS)
Risperidone M-tab
Risperidone [USAN:BAN:INN]
Risperidone, placebo
Risperidonum
Risperidonum [Latin]
Risperin
Rispolept
Rispolin
S1615_Selleck
SAM001246595
SMR000466323
SPBio_003078
STK646402
Sequinan
Spiron
TL8000230
UNII-L6UH7ZF8HC
risperdone
risperidone
6
SerotoninPhase 3285350-67-95202
Synonyms:
3-(2-Aminoethyl)-1H-indol-5-ol
3-(2-Aminoethyl)indol-5-ol
3-(b-Aminoethyl)-5-hydroxyindole
5-HT
5-HTA
5-Hydroxy-3-(b-aminoethyl)indole
 
5-Hydroxy-tryptamine
5-Hydroxyltryptamine
5-Hydroxytriptamine
5-Hydroxytryptamine
Antemovis
DS substance
Enteramin
Enteramine
7Chlorpheniramine, phenylpropanolamine drug combinationPhase 3, Phase 2496
8Glutamic AcidNutraceuticalPhase 3, Phase 2187
9
DesipramineapprovedPhase 23950-47-52995
Synonyms:
(3-(10H,11H-Dibenzo[b,f]azepin-5-yl)propyl)methylamine
10, 11-Dihydro-N-methyl-5H-dibez[b,f]azepine-5-propanamine
10,11-Dihydro-5-(3-methylaminopropyl)-5H-dibenz(b,f)azepine
3-(10,11-DIHYDRO-5H-DIBENZO[B,F]AZEPIN-5-YL)-N-METHYLPROPAN-1-AMINE
3-(10,11-DIHYDRO-5H-dibenzo[b,F]azepin-5-yl)-N-methylpropan-1-amine
3-(5,6-dihydrobenzo[b][1]benzazepin-11-yl)-N-methylpropan-1-amine
5-(gamma-Methylaminopropyl)iminodibenzyl
5-(γ-methylaminopropyl)iminodibenzyl
50-47-5
58-28-6 (hydrochloride)
AB00053450
AC-15977
AC1L1EXQ
AKOS001681456
BPBio1_000447
BRN 1432747
BSPBio_000405
BSPBio_002137
C06943
CAS-58-28-6
CCRIS 7091
CHEBI:47781
CHEMBL72
CID2995
D07791
DB01151
DB07682
DMI
DMI (pharmaceutical)
DMI 50475
Demethylimipramine
Desimipramine
Desimpramine
Desipramin
Desipramina
Desipramina [INN-Spanish]
Desipramine
Desipramine (D4)
Desipramine (INN)
Desipramine Hcl
Desipramine Hydrochloride
Desipramine [INN:BAN]
Desipraminum
Desipraminum [INN-Latin]
Desmethylimipramine
Dezipramine
Dimethylimipramine
DivK1c_000190
 
Déméthylimipramine
EINECS 200-040-0
HSDB 3052
IDI1_000190
KBio1_000190
KBio2_000921
KBio2_003489
KBio2_006057
KBio3_001357
KBioGR_000928
KBioSS_000921
L001089
LS-60421
Lopac-D-3900
Lopac0_000358
Methylaminopropyliminodibenzyl
MolPort-002-051-955
Monodemethylimipramine
N-(3-Methylaminopropyl)iminobibenzyl
N-(3-methylaminopropyl)iminobibenzyl
NCGC00015340-01
NCGC00015340-02
NCGC00015340-03
NCGC00015340-10
NCGC00024375-04
NINDS_000190
Norimipramine
Norpramin
Norpramine
Pentofran
Pertofran
Pertrofane
Prestwick0_000343
Prestwick1_000343
Prestwick2_000343
Prestwick3_000343
SPBio_000042
SPBio_002326
STK735144
STOCK2S-34822
Sertofran
Spectrum2_000091
Spectrum3_000379
Spectrum4_000314
Spectrum5_000833
Spectrum_000441
UNII-TG537D343B
ZERO/006017
desipramine
desipraminum
10
MethylprednisoloneapprovedPhase 2103383-43-26741
Synonyms:
(6S,8S,9S,10R,11S,13S,14S,17R)-11,17-dihydroxy-17-(2-hydroxyacetyl)-6,10,13-trimethyl-7,8,9,11,12,14,15,16-octahydro-6H-cyclopenta[a]phenanthren-3-one
(6a,11b)-11,17,21-Trihydroxy-6-methylpregna-1,4-diene-3,20-dione
(6alpha,11beta)-11,17,21-Trihydroxy-6-methylpregna-1,4-diene-3,20-dione
(6α,11β)-11,17,21-trihydroxy-6-methylpregna-1,4-diene-3,20-dione
.DELTA.1-6.alpha.-Methylhydrocortisone
1-Dehydro-6alpha-methylhydrocortisone
1-dehydro-6alpha-Methylhydrocortisone
1-dehydro-6α-methylhydrocortisone
11-beta,17,21-Trihydroxy-6-alpha-methylpregna-1,4-diene-3,20-dione
11beta,17,21-Trihydroxy-6alpha-methylpregna-1,4-diene-3,20-dione
11beta,17alpha,21-Trihydroxy-6alpha-methyl-1,4-pregnadiene-3,20-dione
11beta,17alpha,21-Trihydroxy-6alpha-methylpregna-1,4-diene-3,20-dione
121673-01-6
4-08-00-03498 (Beilstein Handbook Reference)
46436_FLUKA
46436_RIEDEL
570-35-4
6 Methylprednisolone
6-Methylprednisolone
6-alpha-Methylprednisolone
6.alpha.-Methylprednisolone
6923-42-8
6alpha-Methyl-11beta,17alpha,21-trihydroxy-1,4-pregnadiene-3,20-dione
6alpha-Methyl-11beta,17alpha,21-triol-1,4-pregnadiene-3,20-dione
6alpha-Methylprednisolone
6alpha-methyl-11beta,17alpha,21-triol-1,4-pregnadiene-3,20-dione
83-43-2
A-methapred
AC1L1N7A
Artisone-Wyeth
Artisone-wyeth
BPBio1_000174
BRD-K35240538-001-03-1
BRN 2340300
BSPBio_000158
Besonia
Bio-0658
CHEBI:6888
CHEMBL650
CID6741
CPD000058330
D00407
D008775
DB00959
Depo-Medrol (acetate)
Depo-medrol
Dopomedrol
EINECS 201-476-4
Esametone
Firmacort
HMS1568H20
HMS2090B13
HSDB 3127
LMST02030178
LS-118498
Lemod
M0639_SIGMA
M1665
MEPRDL
MLS000028541
MLS001148159
MLS002207191
Medesone
Medixon
Medlone 21
 
Medrate
Medrol
Medrol (TN)
Medrol Adt Pak
Medrol Dosepak
Medrol adt pak
Medrol dosepak
Medrol, Solu-Medrol, Medrone, Methylprednisolone
Medrone
Mesopren
Metastab
Methyleneprednisolone
Methylprednisolon
Methylprednisolone
Methylprednisolone (JP15/USP/INN)
Methylprednisolone [USAN:INN:BAN:JAN]
Methylprednisolone, 6-alpha
Methylprednisolonum
Methylprednisolonum [INN-Latin]
Metilbetasone
Metilprednisolona
Metilprednisolona [INN-Spanish]
Metilprednisolone
Metilprednisolone [DCIT]
Metilprednisolone [Dcit]
Metipred
Metrisone
Metrocort
Metysolon
Moderin
MolPort-002-528-554
NCGC00022735-03
NCI60_001657
NSC-19987
NSC19987
Nirypan
Noretona
Predni N Tablinen
Prednol- L
Pregna-1,4-diene-3,20-dione, 11beta,17,21-trihydroxy-6alpha-methyl- (8CI)
Prestwick0_000279
Prestwick1_000279
Prestwick2_000279
Prestwick3_000279
Prestwick_622
Promacortine
Reactenol
S1733_Selleck
SAM002589984
SMR000058330
SPBio_002377
Sieropresol
Solomet
Solu-medrol
Summicort
Suprametil
U 7532
UNII-X4W7ZR7023
Urbason
Urbasone
Wyacort
ZINC03875560
delta(1)-6alpha-Methylhydrocortisone
delta(sup 1)-6-alpha-Methylhydrocortisone
methylprednisolone
methylprenisolone
11
Busulfanapproved, investigationalPhase 248655-98-12478
Synonyms:
1, 4-Dimethanesulfonoxybutane
1, 4-Dimethylsulfonoxybutane
1, {4-Bis[methanesulfonoxy]butane}
1,4-BUTANEDIOL DIMETHANESULFONATE
1,4-Bis(methanesulfonoxy)butane
1,4-Bis(methanesulfonyloxy)butane
1,4-Bis[methanesulfonoxy]butane
1,4-Butanedi yl dimethanesulfonate
1,4-Butanediol dimethanesulfonate
1,4-Butanediol dimethanesulphonate
1,4-Butanediol dimethylsulfonate
1,4-Butanediol, dimethanesulfonate
1,4-Butanediol, dimethanesulphonate
1,4-Butanediyl dimethanesulfonate
1,4-Di(methylsulfonoxy)butane
1,4-Dimesyloxybutane
1,4-Dimethane sulfonyl oxybutane
1,4-Dimethanesulfonoxybutane
1,4-Dimethanesulfonoxylbutane
1,4-Dimethanesulfonyloxybutane
1,4-Dimethanesulphonyloxybutane
1,4-Dimethylsulfonoxybutane
1,4-Dimethylsulfonyloxybutane
2041 C. B
2041 C. B.
2041 C.B
2041 C.B.
4-((Methylsulfonyl)oxy)butyl methanesulfonate
4-methylsulfonyloxybutyl methanesulfonate
55-98-1
AC-198
AC1L1DRQ
AC1Q4GRQ
AI3-25012
AKOS003614975
AN 33501
Ambap55-98-1
B1022
B2635_FLUKA
B2635_SIGMA
BRN 1791786
BSPBio_001920
BUSULFAN (1,4-BUTANEDIOL, DIMETHANESULFONATE)
Bisulfex
Busilvex
Busulfan
Busulfan (JP15/USP/INN)
Busulfan GlaxoSmithKline Brand
Busulfan Orphan Brand
Busulfan Wellcome
Busulfan Wellcome Brand
Busulfan [INN:JAN]
Busulfano
Busulfano [INN-Spanish]
Busulfanum
Busulfanum [INN-Latin]
Busulfex
Busulphan
Busulphane
Butanedioldimethanesulfonate
Buzulfan
C.B. 2041
C6H14O6S2
CB 2041
CCRIS 418
CHEBI:28901
CHEMBL820
CID2478
CPD000058613
Citosulfan
D002066
D00248
DB01008
DivK1c_000847
EINECS 200-250-2
FT-0083567
G.T. 41
GT 2041
GT 41
Glaxo Wellcome Brand of Busulfan
GlaxoSmithKline Brand of Busulfan
Glyzophrol
HMS1920I07
HMS2091O09
HMS502K09
 
HSDB 7605
I09-1371
IDI1_000847
InChI=1/C6H14O6S2/c1-13(7,8)11-5-3-4-6-12-14(2,9)10/h3-6H2,1-2H3
KBio1_000847
KBio2_000512
KBio2_003080
KBio2_005648
KBio3_001420
KBioGR_000698
KBioSS_000512
LS-1358
Leucosulfan
MLS001076666
MYLERAN (TN)
Mablin
Methanesulfonic
Methanesulfonic acid, tetram ethylene ester
Methanesulfonic acid, tetramethylene ester
Mielevcin
Mielosan
Mielucin
Milecitan
Mileran
Misulban
Mitosan
Mitostan
MolPort-001-783-406
Myeleukon
Myeloleukon
Myelosan
Myelosanum
Mylecytan
Myleran
Myleran Tablets
Myleran tablets
Myleran, Busulfex, Busulfan
Mylerlan
NCGC00090905-01
NCGC00090905-02
NCGC00090905-03
NCGC00090905-04
NCGC00090905-05
NCGC00090905-06
NCGC00090905-07
NCI-C01592
NCI60_041640
NCIMech_000192
NINDS_000847
NSC 750
NSC-750
NSC-750sulphabutin
NSC750
Orphan Brand of Busulfan
Prestwick_989
S1692_Selleck
SAM002554887
SMR000058613
SPBio_000253
SPECTRUM1500152
ST50825921
Spectrum2_000067
Spectrum3_000320
Spectrum4_000259
Spectrum5_000928
Spectrum_000092
Sulfabutin
Sulfabutin (VAN)
Sulphabutin
Tetramethylene Dimethane Sulfonate
Tetramethylene bis(methanesulfonate)
Tetramethylene bis[methanesulfonate]
Tetramethylene dimethane sulfonate
Tetramethylene {bis[methanesulfonate]}
Tetramethylenester Kyseliny Methansulfonove
Tetramethylenester kyseliny methansulfonove
Tetramethylenester kyseliny methansulfonove [Czech]
UNII-G1LN9045DK
WLN: WS1&O4OSW1
Wellcome Brand of Busulfan
Wellcome, Busulfan
X 149
acid, tetramethylene ester
alkylating agent: crosslinks guanine residues
busulfan
butane-1,4-diyl dimethanesulfonate
n-Butane-1,3-di(methylsulfonate)
12
Mycophenolate mofetilapproved, investigationalPhase 2864128794-94-55281078
Synonyms:
115007-34-6
128794-94-5
140401-05-4
2-Morpholinoethyl (4E)-6-(4-hydroxy-6-methoxy-7-methyl-3-oxo-5-phthalanyl)-4-methyl-4-hexenoate
2-Morpholinoethyl (E)-6-(4-hydroxy-6-methoxy-7-methyl-3-oxo-5-phthalanyl)-4-methyl-4-hexenoate
2-Morpholinoethyl (e)-6-(4-hydroxy-6-methoxy-7-methyl-3-oxo-5-phthalanyl)-4-methyl-4-hexenoate
2-morpholin-4-ylethyl (4E)-6-[4-hydroxy-7-methyl-6-(methyloxy)-3-oxo-1,3-dihydro-2-benzofuran-5-yl]-4-methylhex-4-enoate
2-morpholin-4-ylethyl (E)-6-(4-hydroxy-6-methoxy-7-methyl-3-oxo-1H-2-benzofuran-5-yl)-4-methylhex-4-enoate
4-Hexenoic acid, 6-(1,3-dihydro-4-hydroxy-6-methoxy-7-methyl -3-oxo-5-isobenzofuranyl)-4-methyl-, 2-(4-morpholinyl)ethyl ester, (4E)
AC-1562
AC1NQXZW
AC1Q6O6X
AR-1J6939
BB_NC-2566
C07908
C23H31NO7
CHEMBL1456
CID5281078
CellCept
CellCept, RS 61443, TM-MMF, Mycophenolate mofetil
Cellcept
Cellcept (TN)
D00752
DB00688
HMS2090A03
 
HSDB 7436
I01-0898
I06-1947
LS-172272
LS-75572
ME-MPA
MMF
MMF CellCept(TM)
MolPort-000-883-800
Munoloc
Mycophenolate Mofetil
Mycophenolate mofetil (JAN/USAN)
Mycophenolic acid morpholinoethyl ester
Mycophenylate mofetil
NCGC00159459-02
NCGC00159459-03
NSC724229
R-99
RS 61443
RS-61443
RS-61443-190
S1501_Selleck
TL8000648
TM-MMF
UNII-9242ECW6R0
ZINC21297660
mycophenolate mofetil
13
Cyclophosphamideapproved, investigationalPhase 2252550-18-0, 6055-19-22907
Synonyms:
(+-)-Cyclophosphamide
(-)-Cyclophosphamide
(RS)-Cyclophosphamide
1-(bis(2-chloroethyl)amino)-1-oxo-2-aza-5-oxaphosphoridine
1-Bis(2-chloroethyl)amino-1-oxo-2-aza-5-oxaphosphoridin
2-[Bis(2-chloroethylamino)]-tetrahydro-2H-1,3,2-oxazaphosphorine-2-oxide
4-Hydroxy-cyclophosphan-mamophosphatide
50-18-0
60007-95-6
6055-19-2 (monohydrate)
75526-90-8
AC1L1EQQ
AI3-26198
ASTA
ASTA B518
Asta B 518
B 518
B-518
BRN 0011744
BSPBio_002099
Bis(2-chloroethyl)phosphoramide cyclic propanolamide ester
C 0768
C07888
C7H15Cl2N2O2P
CB 4564
CB-4564
CCRIS 188
CHEBI:4027
CHEMBL32520
CHEMBL88
CID2907
CP
CPA
CTX
CY
Ciclofosfamida
Ciclofosfamida [INN-Spanish]
Ciclofosfamide
Ciclophosphamide
Ciclophosphamide [INN]
Clafen
Claphene
Cycloblastin
Cyclophosphamid
Cyclophosphamide
Cyclophosphamide (INN)
Cyclophosphamide (TN)
Cyclophosphamide (anhydrous form)
Cyclophosphamide (anhydrous)
Cyclophosphamide Monohydrate
Cyclophosphamide Sterile
Cyclophosphamide anhydrous
Cyclophosphamide, (+-)-Isomer
Cyclophosphamides
Cyclophosphamidum
Cyclophosphamidum [INN-Latin]
Cyclophosphan
Cyclophosphane
Cyclophosphanum
Cyclophosphoramide
Cyclostin
Cyklofosfamid
Cyklofosfamid [Czech]
Cytophosphan
Cytophosphane
Cytoxan
Cytoxan (TN)
Cytoxan Lyoph
D,L-Cyclophosphamide
D07760
DB00531
 
DivK1c_000246
EINECS 200-015-4
EU-0100238
Endoxan
Endoxan R
Endoxan-Asta
Endoxana
Endoxanal
Endoxane
Enduxan
Genoxal
HMS2090A12
HSDB 3047
Hexadrin
IDI1_000246
KBio1_000246
KBio2_001338
KBio2_003906
KBio2_006474
KBio3_001319
KBioGR_000888
KBioSS_001338
LS-1302
LS-99787
Ledoxina
Lopac-C-0768
Lopac0_000238
Lyophilized Cytoxan
Mitoxan
MolPort-001-783-420
N,N-Bis(2-chloroethyl)-1,3,2-oxazaphosphinan-2-amine 2-oxide
N,N-Bis(2-chloroethyl)tetrahydro-2H-1,3,2-oxazaphosphorin-2-amine 2-oxide
NCGC00015209-01
NCGC00015209-03
NCGC00015209-06
NCGC00091741-02
NCGC00091741-03
NCI-C04900
NCI60_002097
NINDS_000246
NSC 26271
NSC-26271
NSC26271
NSC273033
NSC273034
Neosar
Occupation, cyclophosphamide exposure
Procytox
RCRA waste no. U058
Rcra Waste Number U058
Rcra waste number U058
Revimmune
S1217_Selleck
SK 20501
SPBio_001071
STK177249
STOCK2S-91217
Semdoxan
Sendoxan
Senduxan
Spectrum2_001146
Spectrum3_000370
Spectrum4_000304
Spectrum5_000795
Spectrum_000858
UNII-6UXW23996M
WLN: T6MPOTJ BO BN2G2G
Zyklophosphamid
Zyklophosphamid [German]
bis(2-Chloroethyl)phosphami de cyclic propanolamide
bis(2-Chloroethyl)phosphamide cyclic propanolamide ester
cyclophosphamide
14
AcetylcysteineapprovedPhase 2280616-91-112035
Synonyms:
(2R)-2-acetylamino-3-Sulfanylpropanoic acid
(R)-2-acetylamino-3-Mercaptopropanoic acid
(R)-Mercapturic acid
2-Acetylamino-3-mercapto-propionate
2-Acetylamino-3-mercapto-propionic acid
Acetadote
Acetilcisteina
Acetylcysteine
Acetylcysteinum
Fluimicil Infantil
Fluimucetin
 
Flumucetin
Fluprowit
L-Acetylcysteine
L-alpha-acetamido-beta-Mercaptopropionic acid
Mercapturic acid
N-ACETYL-L-cysteine
N-Acety-L-Cysteine
N-Acetyl-3-mercaptoalanine
N-Acetyl-L-(+)-cysteine
N-Acetylcysteine
N-acetylcysteine
Sodium 2-acetamido-3-mercaptopropionate
15
Celecoxibapproved, investigationalPhase 2395169590-42-52662
Synonyms:
169590-42-5
184007-95-2
1oq5
4-(5-(4-Methylphenyl)-3-(trifluoromethyl)-1H-pyrazol-1-yl)benzenesulfonamide
4-[5-(4-METHYLPHENYL)-3-(TRIFLUOROMETHYL)-1H-PYRAZOL-1-YL]BENZENESULFONAMIDE
4-[5-(4-methylphenyl)-3-(trifluoromethyl)-1Hpyrazol-1-yl] benzenesulfonamide
4-[5-(4-methylphenyl)-3-(trifluoromethyl)pyrazol-1-yl]benzenesulfonamide
AC-4228
AC1L1E6K
AI-525
BIDD:GT0408
BRD-K02637541-001-02-4
BSPBio_003596
Benzenesulfonamide,4-(5-(4-methylphenyl)-3-(trifluoromethyl)-1H-pyrazol-1-yl)
C07589
C105934
C17H14F3N3O2S
CCRIS 8679
CEL
CEP-33222
CHEBI:41423
CHEMBL118
CID2662
CPD000550473
Celebra
Celebrex
Celebrex (TN)
Celebrex, Celebra, Celecoxib
Celecox
Celecoxi
Celecoxib
Celecoxib (JAN/USAN/INN)
Celecoxib (SC-58635)
Celecoxib [Old RN]
Celecoxib [USAN]
Celecoxibum
Celocoxib
Célécoxib
D00567
DB00482
DivK1c_000893
Eurocox
FT-0080064
HMS1922G14
HMS2089L18
HMS2093I07
HMS502M15
HSDB 7038
I01-1033
IDI1_000893
KBio1_000893
KBio2_000912
 
KBio2_002351
KBio2_003480
KBio2_004919
KBio2_006048
KBio2_007487
KBio3_002830
KBio3_003037
KBioGR_000723
KBioGR_002351
KBioSS_000912
KBioSS_002354
LS-31667
MLS001165684
MLS001195656
MLS001304708
Medicoxib
MolPort-002-885-815
NCGC00091455-01
NCGC00091455-02
NCGC00091455-03
NCGC00091455-04
NCI60_041049
NINDS_000893
NSC719627
Onsenal
P-(5-P-Tolyl-3-(trifluoromethyl)pyrazol-1-yl)benzenesulfonamide
Pfizer brand of celecoxib
S1261_Selleck
SAM002589995
SC 58635
SC-58553, SC-58635
SC-58635
SC58635
SMR000550473
SPBio_001512
SPECTRUM1503678
Solexa
Spectrum2_001576
Spectrum3_001996
Spectrum4_000182
Spectrum5_001324
Spectrum_000432
TL8001323
TPI-336
UNM-0000305813
Xilebao
YM 177
YM-177
YM177
ZINC02570895
cMAP_000027
celecoxib
p-(5-p-Tolyl-3-(trifluoromethyl)pyrazol-1-yl)benzenesulfonamide
16
Fingolimodapproved, investigationalPhase 1, Phase 282162359-55-9107970
Synonyms:
2-Amino-2-(4-octylphenethyl)propane-1,3-diol
AC1L332W
CHEBI:244940
CHEMBL314854
CID107970
FTY720
Fingolimod
 
Fingolimod Hydrochloride
Fingolimodum
Gilenya
LS-187221
MolPort-003-847-513
UNII-3QN8BYN5QF
nchembio.547-comp4
nchembio804-comp4
17
FludarabineapprovedPhase 2100821679-14-1, 75607-67-930751
Synonyms:
(2R,3S,4S,5R)-2-(6-amino-2-fluoro-9H-purin-9-yl)-5-(hydroxymethyl)oxolane-3,4-diol
(2R,3S,4S,5R)-2-(6-amino-2-fluoropurin-9-yl)-5-(hydroxymethyl)oxolane-3,4-diol
2-F-ara-A
2-Fluoro Ara-A
2-Fluoro-9-beta-D-arabinofuranosyladenine
2-Fluoro-ara AMP
2-Fluoroadenine arabinoside 5'-monophosphate
21679-14-1
2F-Ara-AMP
9-beta-Arabinofuranosyl-2-fluoroadenine-5'-phosphate
9-beta-D-Arabinofuranosyl-2-fluoroadenine
9-beta-D-Arabinofuranosyl-2-fluoroadenine 5'-(dihydrogen phosphate)
9-beta-D-Arabinofuranosyl-2-fluoroadenine 5'-monophosphate
9-beta-D-arabinofuranosyl-2-fluoro-9H-purin-6-amine
9H-Purin-6-amine, 9-beta-D-arabinofuranosyl-2-fluoro- (9CI)
AC1LCW8I
AC1Q51CF
C10H12FN5O4
CCRIS 3382
CHEMBL1568
CID657237
CPD000058874
D07966
EINECS 244-525-5
F-Ara-A
FAMP
FT-0082766
FaraA
Fludara
 
Fludara, Fludarabine
Fludarabina
Fludarabina [Spanish]
Fludarabine
Fludarabine (INN)
Fludarabine 5'-monophosphate
Fludarabine Phosphate
Fludarabine [INN]
Fludarabine monophosphate
Fludarabine phosphate
Fludarabinum
Fludarabinum [Latin]
Fludura
Fluradosa
Fluradosa (TN)
HSDB 6964
I14-4978
LS-15061
MLS000028687
NSC 118218
NSC 118218H
NSC-118218
Oforta
S1491_Selleck
SAM002548956
SMR000058874
SQ Fludarabine
UNII-1X9VK9O1SC
UNII-P2K93U8740
ZINC04216238
18
PrednisoloneapprovedPhase 2103350-24-85755
Synonyms:
(11beta)-11,17,21-Trihydroxypregna-1,4-diene-3,20-dione
.DELTA.1-Cortisol
.DELTA.1-Dehydrocortisol
.DELTA.1-Dehydrohydrocortisone
.DELTA.1-Hydrocortisone
.delta.-Cortef
.delta.-Stab
1,2-Dehydrohydrocortisone
1,4-Pregnadiene-11beta,17alpha,21-triol-3,20-dione
1,4-Pregnadiene-3,20-dione-11beta,17alpha,21-triol
1-Dehydrocortisol
1-Dehydrohydrocortisone
3,20-dioxo-11beta,17alpha,21-Trihydroxy-1,4-pregnadiene
46656_FLUKA
46656_RIEDEL
50-24-8
58201-11-9
8056-11-9
AC-1773
AC1L1L2E
Ak-Pred
Ak-Tate
Alphadrol
Articulose-50
BPBio1_000164
BRD-K98039984-001-03-0
BRN 1354103
BSPBio_000148
Bio-0666
Bubbli-Pred
C07369
CCRIS 980
CHEBI:8378
CHEMBL131
CID5755
CO-Hydeltra
CPD000718761
Co-Hydeltra
Codelcortone
Cordrol
Cortalone
Cotogesic
Cotolone
D00472
D011239
DB00860
Decaprednil
Decortin H
Delcortol
Delta F
Delta(1)-dehydrohydrocortisone
Delta-Cortef
Delta-Cortef (TN)
Delta-Ef-Cortelan
Delta-Stab
Delta-stab
Deltacortenol
Deltacortril
Deltacortril Enteric
Deltahydrocortisone
Deltasolone
Deltisilone
Depo-Medrol
Derpo PD
Derpo Pd
Dexa-Cortidelt Hostacortin H
Dexa-Cortidelt hostacortin H
Di Adreson F
Di-Adreson F
Di-Adreson-F
Di-adreson F
DiAdresonF
Dicortol
Donisolone
Dydeltrone
EINECS 200-021-7
Eazolin D
Econopred
Econopred Plus
Erbacort
Erbasona
Estilsona
Fernisolone
Fernisolone P
Fernisolone-P
Flamasone
Flo-pred
HMS1568H10
HMS2090J05
HSDB 3385
Hostacortin H
Hydeltra
Hydeltra-Tba
Hydeltrasol
Hydeltrone
Hydrodeltalone
Hydrodeltisone
Hydroretrocortin
Hydroretrocortine
I-Pred
Inflamase Forte
Inflamase Mild
K 1557
Key-Pred
Klismacort
LMST02030179
LS-7669
Lentosone
Lite Pred
M-Predrol
MLS001304083
 
MLS002154250
MLS002207037
Medrol
Medrol Acetate
Metacortandralone
Methylprednisolone Acetate
Meti-Derm
Meticortelone
Metreton
Millipred
MolPort-002-507-147
NCGC00179649-01
NSC 9120
NSC9120
NSC9900
Neo-Delta-Cortef
Nisolone
Nor-Pred T.B.A.
Ocu-Pred
Ocu-Pred Forte
Omnipred
Ophtho-Tate
Orapred
P0152_SIGMA
P0637
P6004_SIGMA
PRDL
PRED-G
Panafcortelone
Paracortol
Paracotol
Pediapred
Poly-Pred
Precortalon
Precortancyl
Precortilon
Precortisyl
Pred Forte
Pred Mild
Predair
Predair A
Predair Forte
Predalone 50
Predalone T.B.A.
Predate
Predate Tba
Predate-50
Predcor-25
Predcor-50
Predcor-Tba
Predisolone Sodium Phosphate
Predne-Dome
Prednelan
Predni-Dome
Prednicen
Predniliderm
Predniretard
Prednis
Prednisolona
Prednisolona [INN-Spanish]
Prednisolone
Prednisolone (JP15/USP/INN)
Prednisolone (anhydrous)
Prednisolone Acetate
Prednisolone Sodium Phosphate
Prednisolone Tebutate
Prednisolone [INN:BAN:JAN]
Prednisolonum
Prednisolonum [INN-Latin]
Predonin
Predonine
Prelone
Prenolone
Prestwick0_000274
Prestwick1_000274
Prestwick2_000274
Prestwick3_000274
Prestwick_404
Rolisone
S1737_Selleck
SAM002264639
SMR000718761
SPBio_002367
Scherisolon
Solone
Steran
Sterane
Sterolone
Supercortisol
UNII-9PHQ9Y1OLM
Ulacort
Ultra Pred
Ultracorten H
Ultracortene H
Ultracortene-H
Ultracortene-Hydrogen
Ultracortene-hydrogen
ZINC03833821
component of Ataraxoid
component of K-Predne-Dome
delta(1)-Cortisol
delta(1)-Dehydrocortisol
delta(1)-Dehydrohydrocortisone
delta(1)-Hydrocortisone
delta(sup 1)-Cortisol
delta(sup 1)-Dehydrocortisol
delta(sup 1)-Dehydrohydrocortisone
delta(sup 1)-Hydrocortisone
delta-dehydrocortisol
delta-dehydrohydrocortisone
delta-hydrocortisone
prednisolone
19
Mycophenolic acidapprovedPhase 286424280-93-1446541
Synonyms:
(e)-6-(4-Hydroxy-6-methoxy-7-methyl-3-oxo-5-phthalanyl)-4-methyl-4-hexenoic acid
Acide mycophenolique
Acido micofenolico
Acidum mycophenolicum
Melbex
 
Micofenolico acido
Mycophenoic acid
Mycophenolate
Mycophenolic Acid
Mycophenolsaeure
Myfortic
20
Lovastatinapproved, investigationalPhase 25675330-75-553232
Synonyms:
(1S,3R,7S,8S,8AR)-1,2,3,7,8,8a-hexahydro-3,7-dimethyl-8-(2-(2R,4R)-(tetrahydro-4-hydroxy-6-oxo-2H-pyran-2-yl)ethyl)-1-naphthalenyl (S)-2-methyl-butyrate
1cqp
2beta,6alpha-Dimethyl-8alpha-(2-methyl-1-oxobutoxy)-mevinic acid lactone
6 Methylcompactin
6 alpha-Methylcompactin
6-Methylcompactin
6-alpha-Methylcompactin
6-alpha-methylcompactin
6alpha-Methylcompactin
6α-methylcompactin
71949-96-7
74133-25-8
75330-75-5
81739-26-6
AC-13961
AC1L1EI6
AC1Q2C7T
ACon0_000534
ACon1_000390
ARONIS24208
Altocor
Altoprev
Artein
BB_NC-1457
BIDD:GT0749
BIDD:PXR0113
BPBio1_000519
BRD-K09416995-001-06-8
BRN 3631989
BSPBio_000471
BSPBio_001265
BSPBio_003346
Belvas
C07074
C24H36O5
CCRIS 8092
CHEBI:40303
CHEMBL503
CID53232
CPD-5561
CPD000673570
Cholestra
Closterol
Colevix
D00359
D008148
DB00227
DivK1c_001032
HMS1569H13
HMS1792O07
HMS1923O13
HMS1990O07
HMS2089M06
HMS2093O03
HMS503O05
HSDB 6534
Hipolip
Hipovastin
I06-1876
IDI1_001032
KBio1_001032
KBio3_002848
L-154803
L0214
LOVASTATIN
LS-46359
Lestatin
Lipdip
Lipivas
Lipofren
Liposcler
 
Lovalip
Lovalord
Lovastatin
Lovastatin & Primycin
Lovastatin (USP/INN)
Lovastatin [USAN:BAN:INN]
Lovastatin, (1 alpha(S*))-Isomer
Lovastatin, 1 alpha-Isomer (without R*/S* notation)
Lovastatina
Lovastatina [Spanish]
Lovastatine
Lovastatine [French]
Lovastatinum
Lovastatinum [Latin]
Lovasterol
Lovastin
Lozutin
M2147_SIGMA
MEGxm0_000398
MK 803
MK-803
MK803
ML-530B
ML-530b
MLS000069585
MLS001055358
MSD 803
Mevacor
Mevacor (TN)
Mevinacor
Mevinolin
Mevinolin from Aspergillus sp.
Mevlor
MolPort-001-739-990
Monacolin K
Monacolin-K
Monakolin K
NCGC00023509-03
NCGC00023509-04
NCGC00023509-05
NCGC00023509-06
NCGC00023509-07
NCGC00023509-08
NINDS_001032
Nergadan
Paschol
Prestwick0_000516
Prestwick1_000516
Prestwick2_000516
Prestwick3_000516
Prestwick_819
Rextat
Rodatin
Rovacor
SAM002589963
SMR000058779
SMR000673570
SPBio_002392
SPECTRUM1503977
STK801953
Sivlor
Spectrum3_001873
Spectrum5_001294
Taucor
Tecnolip
Teroltrat
UNII-9LHU78OQFD
ZINC03812841
lovastatin
nchembio742-comp5
nchembio790-comp14
nchembio869-comp12
21
ZincapprovedPhase 214047440-66-623994, 32051
Synonyms:
30Zn
Cinc
Zinc
Zinc ion
 
Zincum
Zink
Zn
Zn(ii)
Zn2+
22
Vitamin Eapproved, nutraceuticalPhase 235059-02-914985
Synonyms:
(+)-a-Tocopherol
(+)-alpha-Tocopherol
(+)-alpha-tocopherol
(+)-α-tocopherol
(2R)-2,5,7,8-TETRAMETHYL-2-[(4R,8R)-4,8,12-trimethyltridecyl]chroman-6-ol
(2R)-3,4-Dihydro-2,5,7,8-tetramethyl-2-[(4R,8R)-4,8,12-trimethyltridecyl]-2H-1-benzopyran-6-ol
(2R,4'R,8'R)-a-Tocopherol
(2R,4'R,8'R)-alpha-Tocopherol
(2R,4'R,8'r)-alpha-tocopherol
(R,R,R)-a-Tocopherol
(R,R,R)-alpha-Tocopherol
(R,R,R)-alpha-tocopherol
(R,R,R)-α-tocopherol
5,7,8-Trimethyltocol
Amino-Opti-E
Aquasol E
D-alpha-Tocopherol
Daltose
Denamone
E-200 I.U. Softgels
 
E-Complex-600
E-Ferol
E-Vitamin succinate
Eprolin
Gordo-Vite E
Phytogermin
Phytogermine
RRR-alpha-tocopherol
RRR-alpha-tocopheryl
Tocopherol
Vitamin E
Vitamin Ea
Vitamin Plus E Softgells
Vitamin e
Vitec
a-D-Tocopherol
a-Tocopherol
alpha-Tocopherol
alpha-delta-Tocopherol
d-alpha-tocopherol
d-α-tocopherol
delta-alpha-Tocopherol
23
Folic Acidapproved, nutraceuticalPhase 2285159-30-36037
Synonyms:
(2S)-2-[[4-[(2-amino-4-oxo-1H-pteridin-6-yl)methylamino]benzoyl]amino]pentanedioic acid
01769_FLUKA
2d0k
33609-88-0
36653-55-1 (mono-potassium salt)
59-30-3
6484-89-5 (mono-hydrochloride salt)
AC-11682
AC1L1LNX
AI3-26387
AKOS000503224
ARONIS014410
Acfol (Spain)
Acide folique
Acide folique [INN-French]
Acido folico
Acido folico [INN-Spanish]
Acidum folicum
Acidum folicum [INN-Latin]
Acifolic
Antianemia factor
Apo-Folic
BIDD:ER0563
BIDD:GT0641
BIF0608
BPBio1_000654
BSPBio_000594
BSPBio_002338
C00504
C20H20N6O6
CAS-59-30-3
CCRIS 666
CHEBI:27470
CHEMBL1622
CID6037
CPD000471860
Cytofol
D00070
DB00158
DivK1c_000494
Dosfolat B activ
EINECS 200-419-0
F0043
F7876_SIAL
F7876_SIGMA
F8758_SIGMA
F8798_SIAL
F8890_SIGMA
FOL
Facid
Factor U
Folacid
Folacin
Folaemin
Folaemin [Netherlands]
Folan
Folasic (Australia)
Folate
Folbal
Folcidin
Folcidin (VAN)
Folcysteine
Foldine
Foldine [France]
Folettes
Foliamin
Folic
Folic Acid
Folic acid
Folic acid (JP15/USP/INN)
Folic acid (TN)
Folic acid [BAN:INN:JAN]
Folic acid [INN:BAN:JAN]
Folic acid dihydrate
Folicet
Folicet (TN)
Folico
Folico (Italy)
Folina
Folina (Italy)
Folipac
 
Folsaeure
Folsan
Folsaure
Folsav
Folvite
Folvron
Glutamic acid, N-(p-(((2-amino-4-hydroxypyrimido(4,5-b)pyrazin-6-yl)methyl)amino)benzoyl)-, L
HMS1921D20
HMS2092N17
HMS501I16
HSDB 2002
IDI1_000494
InChI=1/C19H19N7O6/c20-19-25-15-14(17(30)26-19)23-11(8-22-15)7-21-10-3-1-9(2-4-10)16(29)24-12(18(31)32)5-6-13(27)28/h1-4,8,12,21H,5-7H2,(H,24,29)(H,27,28)(H,31,32)(H3,20,22,25,26,30)/t12-/m0/s
Incafolic
KBio1_000494
KBio2_001861
KBio2_004429
KBio2_006997
KBio3_001558
KBioGR_002222
KBioSS_001861
Kyselina listova
Kyselina listova [Czech]
LS-2157
Liver Lactobacillus casei factor
MLS001304016
MLS001335861
Millafol
Mission prenatal
Mittafol
MolPort-004-285-551
N-(4-(((2-Amino-1,4-dihydro-4-oxo-6-pteridinyl)methyl)amino)benzo- yl)-L-glutamic acid
N-(4-((2-Amino-1,4-dihydro-4-oxo-6-pteridinyl)methyl)amino)benzoyl)-L-glutamic acid
N-(4-{[(2-Amino-4-oxo-3,4-dihydropteridin-6-yl)methyl]amino}benzoyl)-L-glutamic acid
N-(4-{[(2-amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}benzoyl)-L-glutamic acid
N-(p-(((2-Amino-4-hydroxy-6-pteridinyl)methyl)amino)benzoyl)-L-glutamic acid
N-Pteroyl-L-glutamic acid
N-[(4-{[(2-Amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}phenyl)carbonyl]-L-glutamic acid
N-[(4-{[(2-amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}phenyl)carbonyl]-L-glutamic acid
N-[4-[[(2-Amino-3,4-dihydro-4-oxo-6-pteridinyl)methyl]amino]benzoyl]-L-glutamic acid
NCGC00016265-01
NCGC00142391-01
NINDS_000494
NSC 3073
Nifolin
Nifolin [Denmark]
Novofolacid
Novofolacid [Canada]
PGA
PGA (VAN)
Prestwick3_000627
Prestwick_230
PteGlu
Pteroyl-L-glutamate
Pteroyl-L-glutamic acid
Pteroyl-L-monoglutamate
Pteroyl-L-monoglutamic acid
Pteroylglutamate
Pteroylglutamic acid
Pteroylmonoglutamate
Pteroylmonoglutamic acid
SAM002264616
SDCCGMLS-0066738.P001
SMP2_000137
SMR000471860
SPBio_001357
SPECTRUM1502020
Serum Folate Level
Spectrum2_001459
Spectrum3_000749
Spectrum4_001751
Spectrum5_000602
Spectrum_001381
UNII-935E97BOY8
Usaf cb-13
Vitamin B11
Vitamin B9
Vitamin Bc
Vitamin Be
Vitamin M
bmse000299
folic acid
nchembio.108-comp10
24Prednisolone hemisuccinatePhase 21033
25ExpectorantsPhase 2320
26insulinPhase 24069
27N-monoacetylcystinePhase 2280
28Prednisolone phosphatePhase 21033
29Thioctic AcidPhase 297
30Copolymer 1Phase 2, Phase 191
31Vitamin B ComplexPhase 22775
32TocotrienolsPhase 2352
33TocopherolsPhase 2355
34Insulin, Globin ZincPhase 24069
35Prednisolone acetatePhase 21033
36Fludarabine phosphatePhase 2100830751
37KrestinPhase 2184
38CyclosporinsPhase 2849
39lenograstimPhase 21108
40
MesnaPhase 22333375-50-6598
Synonyms:
2-Mercaptoethanesulfonate
2-Mercaptoethanesulfonic acid
 
CoM
Coenzyme M
HS-CoM
41Methylprednisolone HemisuccinatePhase 21033
42Methylprednisolone acetatePhase 21033
43Antilymphocyte SerumPhase 2376
44StrawberryNutraceuticalPhase 271
45Vitamin B9NutraceuticalPhase 22851
46TocotrienolNutraceuticalPhase 2352
47FolateNutraceuticalPhase 22851
48TocopherolNutraceuticalPhase 2355
49Alpha-lipoic AcidNutraceuticalPhase 297
50
KetamineapprovedPhase 14166740-88-13821
Synonyms:
(+-)-Ketamine
(+/-)-2-(2-Chlorophenyl)-2-(methylamino)cyclohexanone
(+/-)-2-(o-Chlorophenyl)-2-(methylamino)cyclohexanone
(+/-)-Ketamine
(-)-Ketamine
(S)-(-)-Ketamine
(S)-Ketamine
(±)-ketamine
100477-72-3
2-(2-Chloro-phenyl)-2-methylamino-cyclohexanone
2-(2-Chlorophenyl)-2-(methylamino)cyclohexanone
2-(2-chlorophenyl)-2-(methylamino)cyclohexan-1-one
2-(Methylamino)-2-(2-chlorophenyl)cyclohexanone
2-(methylamino)-2-(2-chlorophenyl)cyclohexanone
2-(o-Chlorophenyl)-2-(methylamino)-cyclohexanone
2-(o-Chlorophenyl)-2-(methylamino)cyclohexanone
2-(o-chlorophenyl)-2-(methylamino)-cyclohexanone
33643-45-7
6740-88-1
79499-51-7
AC1L1GSH
AC1Q40UR
AKOS001053247
BRN 2216965
C07525
C13H16ClNO
CHEBI:138833
CHEBI:6121
CHEMBL742
CI 581 base
CI-581
CID3821
CLSTA 20
Calypsol
Cetamina
Cetamina [INN-Spanish]
Cyclohexanone, 2-(2-chlorophenyl)-2-(methylamino)- (9CI)
Cyclohexanone, 2-(2-chlorophenyl)-2-(methylamino)-, (+-)- (9CI)
Cyclohexanone, 2-(o-chlorophenyl)-2-(methylamino)-, (+/-)- (8CI)
D08098
DB01221
DEA No. 7285
DL-ketamine
 
DivK1c_000217
EINECS 229-804-1
Esketamine
Green
IDI1_000217
KBio1_000217
KETAMINE
KETAMINE HCL
Ketaject
Ketalar
Ketalar base
Ketamina
Ketamine (INN)
Ketamine Base
Ketamine HCL
Ketamine Hydrochloride
Ketamine [INN:BAN]
Ketamine hydrochloride
Ketaminum
Ketaminum [INN-Latin]
Ketanest
Ketoject
Ketolar
L-Ketamine
LS-57301
MLS001331674
MolPort-001-838-070
NCGC00159480-02
NCGC00159480-03
NINDS_000217
NMDA
NSC 70151
NSC70151
SMR000238141
Special K
Special K [street name]
Special k
T385
Tekam
Tekam (TN)
UNII-690G0D6V8H
dl-Ketamine
ketamine
l-Ketamine

Interventional clinical trials:

(show all 33)
idNameStatusNCT IDPhase
1A Study of the Effectiveness and Safety of Risperidone Versus Placebo in the Treatment of Children With Autistic Disorder and Other Pervasive Developmental Disorders (PDD)CompletedNCT00261508Phase 3
2Independent Studies of Dextromethorphan and of Donepezil Hydrochloride for Rett SyndromeRecruitingNCT00069550Phase 3
3Phase 2 Study of EPI-743 for Treatment of Rett SyndromeCompletedNCT01822249Phase 2
4Treatment of Rett Syndrome With rhIGF-1 (Mecasermin [rDNA]Injection)CompletedNCT01253317Phase 1, Phase 2
5Pilot Study of the Effects of the Desipramine on the Neurovegetative Parameters of the Child With Rett SyndromeCompletedNCT00990691Phase 2
6A Safety Study of NNZ-2566 in Patients With Rett SyndromeCompletedNCT01703533Phase 2
7Study to Assess Safety and Efficacy of Fingolimod in Children With Rett SyndromeRecruitingNCT02061137Phase 1, Phase 2
8Treatment of Rett Syndrome With Recombinant Human IGF-1RecruitingNCT01777542Phase 2
9Placebo Controlled Trial of Dextromethorphan in Rett SyndromeRecruitingNCT01520363Phase 2
10Pharmacological Treatment of Rett Syndrome With StatinsRecruitingNCT02563860Phase 2
11MT2013-31: Allo HCT for Metabolic Disorders and Severe OsteopetrosisRecruitingNCT02171104Phase 2
12Pharmacological Treatment of Rett Syndrome With Glatiramer Acetate (Copaxone)Active, not recruitingNCT02153723Phase 2
13Trial of Dextromethorphan in Rett SyndromeTerminatedNCT00593957Phase 2
14An Exploratory Open Label Study of EPI-743 (Vincerinone TM) in Children With Autism Spectrum DisorderWithdrawnNCT02226458Phase 2
15An Open Label, Exploratory Study to Investigate the Treatment Effect of Glatiramer Acetate on Girls Woth Rett SyndromeRecruitingNCT02023424Phase 1
16An Exploratory Trial of Ketamine for the Treatment of Rett SyndromeActive, not recruitingNCT02562820Phase 1
17Sleep Abnormalities in Rare Genetic Disorders: AS, RTT, and PWCompletedNCT02670694
18Creatine Metabolism in Rett SyndromeCompletedNCT01198015
19Effects of Creatine Supplementation in Rett SyndromeCompletedNCT01147575
20Metabolic Evaluation of Nutrition in Rett SyndromeCompletedNCT00786071
21Genetic and Physical Characteristics of Rett SyndromeCompletedNCT00299312
22Functional Abilities in Rett SyndromeCompletedNCT00630422
23The Role of Family Functioning in Adaptation to Being a Caregiver of an Individual With Rett SyndromeCompletedNCT00891956
24Study of Cardiac and Paroxysmal Abnormalities in Rett SyndromeCompletedNCT00004773
25Nutritional Aspects of Rett SyndromeCompletedNCT00004656
26Study of the Pathogenesis of Rett SyndromeCompletedNCT00004807
27Advanced Grandparental Age as a Risk Factor for AutismCompletedNCT00464477
28Predictors of Caregiver Adaptation to Pervasive Developmental DisordersCompletedNCT00496210
29Screening for Studies on Autism Spectrum DisordersRecruitingNCT00271622
30Osteoporosis in RETT SyndromeActive, not recruitingNCT02110797
31Effects of Standing on Non-Ambulatory Children With Neuromuscular ConditionsNot yet recruitingNCT02428673
32Brainstem and PrematurityNot yet recruitingNCT02669056
33Analysis of the Glutathione Cycle in Children With Rett SyndromeWithdrawnNCT02360436

Search NIH Clinical Center for Rett Syndrome


Cochrane evidence based reviews: Rett Syndrome

Genetic Tests for Rett Syndrome

About this section

Genetic tests related to Rett Syndrome:

id Genetic test Affiliating Genes
1 Rett Syndrome22
2 Rett's Disorder24
3 Atypical Rett Syndrome24

Anatomical Context for Rett Syndrome

About this section

MalaCards organs/tissues related to Rett Syndrome:

33
Brain, Bone, Testes, Eye, Lung, Liver, T cells

Animal Models for Rett Syndrome or affiliated genes

About this section

MGI Mouse Phenotypes related to Rett Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000539410.5BDNF, CDKL5, DLX5, FOXG1, SYN1
2MP:00053829.8BDNF, DLX5, DLX6, FOXG1, MBD4, MECP2
3MP:00053779.8BDNF, DLX5, DLX6, FOXG1, MECP2, NTNG2
4MP:00053919.4ATRX, BDNF, DLX5, DLX6, FOXG1, MBD4
5MP:00053788.7ATRX, BDNF, CHAT, DLX5, DLX6, FOXG1
6MP:00107688.4ATRX, BDNF, CHAT, DLX5, DLX6, FOXG1
7MP:00053868.3ATRX, BDNF, CDKL5, CHAT, DLX5, FOXG1
8MP:00036318.2ATRX, BDNF, CDKL5, CHAT, DLX5, DLX6

Publications for Rett Syndrome

About this section

Articles related to Rett Syndrome:

(show top 50)    (show all 760)
idTitleAuthorsYear
1
Chronic Administration of the N-Methyl-D-Aspartate Receptor Antagonist Ketamine Improves Rett Syndrome Phenotype. (26410354)
2015
2
Paroxysmal alpha activity in rett syndrome: a case report. (25160549)
2014
3
Severe Respiratory Dysrhythmia in Rett Syndrome Treated With Topiramate. (24309241)
2013
4
Mutational analysis of methyl-CpG binding protein 2 (MECP2) gene in Indian cases of Rett syndrome. (23400946)
2013
5
Detection of rarely identified multiple mutations in MECP2 gene do not contribute to enhanced severity in Rett syndrome. (23696494)
2013
6
Respiratory and sleep disorders in female children with atypical Rett syndrome caused by mutations in the CDKL5 gene. (23151060)
2013
7
Investigation of Rett syndrome using pluripotent stem cells. (23744605)
2013
8
Rett syndrome: an eye-tracking study of attention and recognition memory. (23488948)
2013
9
The Rett syndrome protein MeCP2 regulates synaptic scaling. (22262897)
2012
10
Novel mutations in the C-terminal region of the MECP2 gene in Tunisian Rett syndrome patients. (21940684)
2012
11
Epileptic seizures, movement disorders, and breathing disturbances in Rett syndrome: diagnostic relevance of video-polygraphy. (23103540)
2012
12
Early speech-language development in females with Rett syndrome: focusing on the preserved speech variant. (22348320)
2012
13
Variant of Rett syndrome and CDKL5 gene: clinical and autonomic description of 10 cases. (22430159)
2012
14
Rett syndrome induced pluripotent stem cell-derived neurons reveal novel neurophysiological alterations. (22230884)
2012
15
The management of gastric perforation in a girl with Rett syndrome: report of a case. (20149564)
2011
16
Ex vivo treatment with a novel synthetic aminoglycoside NB54 in primary fibroblasts from Rett syndrome patients suppresses MECP2 nonsense mutations. (21695138)
2011
17
Analysis of FOXG1 Is Highly Recommended in Male and Female Patients with Rett Syndrome. (22190898)
2011
18
Increased levels of 4HNE-protein plasma adducts in Rett syndrome. (21276437)
2011
19
Longitudinal hand function in Rett syndrome. (20921565)
2011
20
Rett syndrome: exploring the autism link. (21825235)
2011
21
Experimental models of Rett syndrome based on Mecp2 dysfunction. (21239731)
2011
22
'Relabelling the preserved speech variant of Rett syndrome?'. (20002131)
2010
23
Ocular MECP2 protein expression in patients with and without Rett syndrome. (20682201)
2010
24
Reversibility of functional deficits in experimental models of Rett syndrome. (20298210)
2010
25
Disrupted microRNA expression caused by Mecp2 loss in a mouse model of Rett syndrome. (20716963)
2010
26
Suppression of nonsense mutations in Rett syndrome by aminoglycoside antibiotics. (19190538)
2009
27
Correlation between MECP2 genotype and phenotype in Chinese patients with Rett syndrome]. (19573459)
2009
28
A novel CDKL5 mutation in a 47,XXY boy with the early-onset seizure variant of Rett syndrome. (19161156)
2009
29
X chromosome inactivation in Rett Syndrome and its correlations with MECP2 mutations and phenotype. (18184939)
2008
30
Movement disorders in Rett syndrome: an analysis of 60 patients with detected MECP2 mutation and correlation with mutation type. (18512755)
2008
31
Bone ultrasonography at phalanxes in patients with Rett syndrome: a 3-year longitudinal study. (18242156)
2008
32
Rett syndrome and plasma leptin levels. (17188610)
2007
33
Widened clinical spectrum of the Q128P MECP2 mutation in Rett syndrome. (15875198)
2006
34
The molecular pathology of Rett syndrome: synopsis and update. (17028371)
2006
35
MeCP2 deficiency in Rett syndrome causes epigenetic aberrations at the PWS/AS imprinting center that affects UBE3A expression. (15757975)
2005
36
Disruption of Netrin G1 by a balanced chromosome translocation in a girl with Rett syndrome. (15870826)
2005
37
Dimensional phenotypic analysis and functional categorisation of mutations reveal novel genotype-phenotype associations in Rett syndrome. (16077736)
2005
38
Mutations found within exon 1 of MECP2 in Danish patients with Rett syndrome. (15857422)
2005
39
Rett syndrome: the complex nature of a monogenic disease. (12750821)
2003
40
DNA methylation and Rett syndrome. (12928486)
2003
41
Magnetic resonance spectroscopy and analysis of MECP2 in Rett syndrome. (11955928)
2002
42
A detailed analysis of the MECP2 gene: prevalence of recurrent mutations and gross DNA rearrangements in Rett syndrome patients. (11214906)
2001
43
Quantitative localization of heterogeneous methyl-CpG-binding protein 2 (MeCP2) expression phenotypes in normal and Rett syndrome brain by laser scanning cytometry. (11532982)
2001
44
Gene expression profiling in postmortem Rett Syndrome brain: differential gene expression and patient classification. (11592853)
2001
45
Reduced expression of neuropeptides can be related to respiratory disturbances in Rett syndrome. (11738857)
2001
46
Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms. (11055898)
2000
47
Effects of Rett syndrome mutations of the methyl-CpG binding domain of the transcriptional repressor MeCP2 on selectivity for association with methylated DNA. (10852707)
2000
48
Dendritic cytoskeletal protein expression in mental retardation: an immunohistochemical study of the neocortex in Rett syndrome. (11007550)
2000
49
Mutation screening in Rett syndrome patients. (10745042)
2000
50
Bromocriptine in the Rett syndrome. (2360701)
1990

Variations for Rett Syndrome

About this section

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

67 (show all 39)
id Symbol AA change Variation ID SNP ID
1MECP2p.Arg106TrpVAR_010272rs28934907
2MECP2p.Arg133CysVAR_010273rs28934904
3MECP2p.Phe155SerVAR_010274rs28934905
4MECP2p.Thr158MetVAR_010275rs28934906
5MECP2p.Pro101ArgVAR_010276
6MECP2p.Leu124PheVAR_010277
7MECP2p.Ser134CysVAR_010278
8MECP2p.Pro152ArgVAR_010280
9MECP2p.Arg306CysVAR_010282rs28935468
10MECP2p.Leu100ValVAR_017462rs28935168
11MECP2p.Glu10GlnVAR_018180
12MECP2p.Asp97TyrVAR_018182
13MECP2p.Pro101HisVAR_018183
14MECP2p.Pro101LeuVAR_018184
15MECP2p.Pro101ThrVAR_018185
16MECP2p.Arg106GlnVAR_018186
17MECP2p.Arg111GlyVAR_018187
18MECP2p.Gln128ProVAR_018188
19MECP2p.Arg133HisVAR_018189
20MECP2p.Lys135GluVAR_018190
21MECP2p.Asp156GlyVAR_018191
22MECP2p.Lys210IleVAR_018197
23MECP2p.Pro225ArgVAR_018198
24MECP2p.Pro302AlaVAR_018206
25MECP2p.Pro302HisVAR_018207
26MECP2p.Pro302LeuVAR_018208
27MECP2p.Pro302ArgVAR_018209
28MECP2p.Lys305ArgVAR_018210
29MECP2p.Arg306HisVAR_018211
30MECP2p.Pro322AlaVAR_018212
31MECP2p.Pro322LeuVAR_018213
32MECP2p.Arg344TrpVAR_018214
33MECP2p.Asp97GluVAR_023552
34MECP2p.Leu100ArgVAR_023553
35MECP2p.Pro101SerVAR_023554
36MECP2p.Tyr120AspVAR_023555
37MECP2p.Phe155IleVAR_023556
38MECP2p.Thr158AlaVAR_023557
39MECP2p.Gly161ValVAR_023558

Clinvar genetic disease variations for Rett Syndrome:

5 (show all 557)
id Gene Variation Type Significance SNP ID Assembly Location
1CDKL5CDKL5, 1-BP DEL, 183TdeletionPathogenic
2CDKL5CDKL5, IVSAS13, G-A, -1single nucleotide variantPathogenic
3CDKL5NM_003159.2(CDKL5): c.455G> T (p.Cys152Phe)single nucleotide variantPathogenicrs122460157GRCh37Chr X, 18600062: 18600062
4CDKL5NM_003159.2(CDKL5): c.525A> T (p.Arg175Ser)single nucleotide variantPathogenicrs61749700GRCh37Chr X, 18602444: 18602444
5CDKL5CDKL5, 4-BP DEL, 166GAAAdeletionPathogenic
6CDKL5CDKL5, 2-BP DEL, 2636CTdeletionPathogenic
7CDKL5NM_003159.2(CDKL5): c.2500C> T (p.Gln834Ter)single nucleotide variantPathogenicrs122460158GRCh37Chr X, 18646494: 18646494
8CDKL5CDKL5, IVS6AS, G-T, -1single nucleotide variantPathogenic
9CDKL5NM_003159.2(CDKL5): c.119C> T (p.Ala40Val)single nucleotide variantPathogenicrs122460159GRCh37Chr X, 18582616: 18582616
10CDKL5NM_003159.2(CDKL5): c.215T> C (p.Ile72Thr)single nucleotide variantLikely pathogenic, Pathogenicrs62641235GRCh37Chr X, 18593543: 18593543
11CDKL5NM_003159.2(CDKL5): c.863C> T (p.Thr288Ile)single nucleotide variantPathogenicrs267606713GRCh37Chr X, 18616619: 18616619
12CDKL5NM_003159.2(CDKL5): c.872G> A (p.Cys291Tyr)single nucleotide variantPathogenicrs267606714GRCh37Chr X, 18616628: 18616628
13CDKL5CDKL5, 2-BP INS, 903GAinsertionPathogenic
14MECP2NM_004992.3(MECP2): c.397C> T (p.Arg133Cys)single nucleotide variantPathogenicrs28934904GRCh37Chr X, 153296882: 153296882
15MECP2NM_004992.3(MECP2): c.464T> C (p.Phe155Ser)single nucleotide variantPathogenicrs28934905GRCh37Chr X, 153296815: 153296815
16MECP2NM_004992.3(MECP2): c.473C> T (p.Thr158Met)single nucleotide variantPathogenicrs28934906GRCh37Chr X, 153296806: 153296806
17MECP2MECP2, 1-BP DEL, 806GdeletionPathogenic
18MECP2MECP2, 44-BP DEL, NT1152deletionPathogenic
19MECP2NM_004992.3(MECP2): c.316C> T (p.Arg106Trp)single nucleotide variantPathogenicrs28934907GRCh37Chr X, 153297719: 153297719
20MECP2NM_004992.3(MECP2): c.808C> T (p.Arg270Ter)single nucleotide variantPathogenicrs61750240GRCh37Chr X, 153296471: 153296471
21MECP2MECP2, IVS2, A-G, -2single nucleotide variantPathogenic
22MECP2NM_004992.3(MECP2): c.1180G> T (p.Glu394Ter)single nucleotide variantPathogenicrs63094662GRCh37Chr X, 153296099: 153296099
23MECP2NM_004992.3(MECP2): c.167_168delCC (p.Pro56Argfs)deletionPathogenicrs267608434GRCh37Chr X, 153297867: 153297868
24MECP2NM_001110792.1(MECP2): c.916C> T (p.Arg306Ter)single nucleotide variantPathogenic, risk factorrs61751362GRCh37Chr X, 153296399: 153296399
25MECP2MECP2, 41-BP DEL, NT1159deletionPathogenic
26MECP2NM_004992.3(MECP2): c.419C> T (p.Ala140Val)single nucleotide variantLikely pathogenic, Pathogenicrs28934908GRCh37Chr X, 153296860: 153296860
27MECP2NM_004992.3(MECP2): c.916C> T (p.Arg306Cys)single nucleotide variantPathogenicrs28935468GRCh37Chr X, 153296363: 153296363
28MECP2MECP2, 1-BP DEL, 76CdeletionPathogenic
29MECP2MECP2, 14-BP DUP, NT766duplicationPathogenic
30MECP2NM_004992.3(MECP2): c.502C> T (p.Arg168Ter)single nucleotide variantPathogenicrs61748421GRCh37Chr X, 153296777: 153296777
31MECP2NM_004992.3(MECP2): c.763C> T (p.Arg255Ter)single nucleotide variantPathogenicrs61749721GRCh37Chr X, 153296516: 153296516
32MECP2MECP2, 52-BP DELdeletionPathogenic
33MECP2NM_004992.3(MECP2): c.423C> G (p.Tyr141Ter)single nucleotide variantPathogenicrs61748396GRCh37Chr X, 153296856: 153296856
34MECP2NM_004992.3(MECP2): c.1363G> T (p.Glu455Ter)single nucleotide variantPathogenicrs104894864GRCh37Chr X, 153295916: 153295916
35MECP2NM_004992.3(MECP2): c.298C> G (p.Leu100Val)single nucleotide variantPathogenicrs28935168GRCh37Chr X, 153297737: 153297737
36MECP2MECP2, 11-BP DEL, EX1deletionPathogenic
37MECP2MECP2, 5-BP DUP, EX1duplicationPathogenic
38MECP2MECP2, 1-BP DEL AND 2-BP INSindelPathogenic
39MECP2MECP2, 2-BP DEL, 488GGdeletionPathogenic
40MECP2NM_004992.3(MECP2): c.674C> T (p.Pro225Leu)single nucleotide variantPathogenicrs61749715GRCh37Chr X, 153296605: 153296605
41MECP2NM_001110792.1(MECP2): c.5C> T (p.Ala2Val)single nucleotide variantLikely pathogenic, Pathogenicrs179363901GRCh37Chr X, 153363118: 153363118
42MECP2NM_004992.3(MECP2): c.710delG (p.Gly237Valfs)deletionPathogenicrs61749743GRCh37Chr X, 153296569: 153296569
43FOXG1NM_005249.4(FOXG1): c.765G> A (p.Trp255Ter)single nucleotide variantPathogenicrs121913678GRCh37Chr 14, 29237250: 29237250
44FOXG1FOXG1, 1-BP DEL, 969CdeletionPathogenic
45FOXG1NM_005249.4(FOXG1): c.624C> G (p.Tyr208Ter)single nucleotide variantPathogenicrs267606826GRCh37Chr 14, 29237109: 29237109
46FOXG1NM_005249.4(FOXG1): c.643T> C (p.Phe215Leu)single nucleotide variantPathogenicrs267606828GRCh37Chr 14, 29237128: 29237128
47FOXG1NM_005249.4(FOXG1): c.1200C> G (p.Tyr400Ter)single nucleotide variantPathogenicrs138747073GRCh37Chr 14, 29237685: 29237685
48MECP2NM_004992.3(MECP2): c.(?_-1)_(26_?)deldeletionPathogenic
49MECP2NM_004992.3(MECP2): c.1009_1027del19 (p.Lys337Glyfs)deletionPathogenicrs267608559GRCh37Chr X, 153296252: 153296270
50MECP2NM_004992.3(MECP2): c.100_103delGATA (p.Asp34Argfs)deletionPathogenicrs61754428GRCh37Chr X, 153297932: 153297935
51MECP2NM_004992.3(MECP2): c.1038C> G (p.Ser346Arg)single nucleotide variantPathogenicrs61752365GRCh37Chr X, 153296241: 153296241
52MECP2NM_004992.3(MECP2): c.1069_1071delAGC (p.Ser357del)deletionPathogenicrs267608564GRCh37Chr X, 153296208: 153296210
53MECP2NM_004992.3(MECP2): c.1079C> A (p.Ser360Ter)single nucleotide variantPathogenicrs61752372GRCh37Chr X, 153296200: 153296200
54MECP2NM_004992.3(MECP2): c.107_108delAA (p.Lys36Argfs)deletionPathogenicrs267608425GRCh37Chr X, 153297927: 153297928
55MECP2NM_001110792.1(MECP2): c.143_149delAAGAAGA (p.Lys48Argfs)deletionPathogenicrs267608424GRCh37Chr X, 153297922: 153297928
56MECP2NM_004992.3(MECP2): c.1087A> T (p.Lys363Ter)single nucleotide variantPathogenicrs61752375GRCh37Chr X, 153296192: 153296192
57MECP2NM_004992.3(MECP2): c.108_111delAGAA (p.Glu37Argfs)deletionPathogenicrs267608426GRCh37Chr X, 153297924: 153297927
58MECP2NM_004992.3(MECP2): c.1099_1118del20 (p.His367Argfs)deletionPathogenicrs267608567GRCh37Chr X, 153296161: 153296180
59MECP2NM_004992.3(MECP2): c.1118C> G (p.Ser373Ter)single nucleotide variantPathogenicrs267608569GRCh37Chr X, 153296161: 153296161
60MECP2NM_001110792.1(MECP2): c.1163_1173delCAAAGGCCCCC (p.Pro388Argfs)deletionPathogenicrs267608570GRCh37Chr X, 153296142: 153296152
61MECP2NM_004992.3(MECP2): c.1145_1194del50 (p.Leu382Profs)deletionPathogenicrs267608573GRCh37Chr X, 153296085: 153296134
62MECP2NM_004992.3(MECP2): c.1150_1192del43 (p.Pro384Thrfs)deletionPathogenicrs63749023GRCh37Chr X, 153296087: 153296129
63MECP2NM_004992.3(MECP2): c.1151_1188del38 (p.Pro384Argfs)deletionPathogenicrs267608574GRCh37Chr X, 153296091: 153296128
64MECP2NM_004992.3(MECP2): c.1151_1191del41 (p.Pro384Argfs)deletionPathogenicrs63749024GRCh37Chr X, 153296088: 153296128
65MECP2NM_001110792.1(MECP2): c.1188_1191delACCC (p.Pro397Cysfs)deletionPathogenicrs267608576GRCh38Chr X, 154030673: 154030676
66MECP2NM_004992.3(MECP2): c.1152_1195del44 (p.Pro385Hisfs)deletionPathogenicrs267608372GRCh37Chr X, 153296084: 153296127
67MECP2NM_004992.3(MECP2): c.1153_1190del38 (p.Pro385Glyfs)deletionPathogenicrs267608577GRCh37Chr X, 153296089: 153296126
68MECP2NM_004992.3(MECP2): c.1154_1185del32 (p.Pro385Leufs)deletionPathogenicrs267608578GRCh37Chr X, 153296094: 153296125
69MECP2NM_004992.3(MECP2): c.1154_1197del44 (p.Pro385Hisfs)deletionPathogenicrs267608579GRCh37Chr X, 153296082: 153296125
70MECP2NM_004992.3(MECP2): c.1155_1183del29 (p.Pro387Argfs)deletionPathogenicrs267608580GRCh37Chr X, 153296096: 153296124
71MECP2NM_004992.3(MECP2): c.1155_1200del46 (p.Leu386Alafs)deletionPathogenicrs267608329GRCh37Chr X, 153296079: 153296124
72MECP2NM_004992.3(MECP2): c.1156_1157dupCT (p.Pro387Cysfs)duplicationPathogenicrs267608584GRCh37Chr X, 153296122: 153296123
73MECP2NM_004992.3(MECP2): c.1156_1172del17 (p.Leu386Terfs)deletionPathogenicrs267608582GRCh37Chr X, 153296107: 153296123
74MECP2NM_004992.3(MECP2): c.1157_1187del31 (p.Leu386Profs)deletionPathogenicrs61754419GRCh37Chr X, 153296092: 153296122
75MECP2NM_004992.3(MECP2): c.1157_1188del32 (p.Leu386Argfs)deletionPathogenicrs267608585GRCh37Chr X, 153296091: 153296122
76MECP2NM_004992.3(MECP2): c.1157_1197del41 (p.Leu386Hisfs)deletionPathogenicrs267608327GRCh37Chr X, 153296082: 153296122
77MECP2NM_004992.3(MECP2): c.1157_1199del43 (p.Leu386Profs)deletionPathogenicrs267608587GRCh37Chr X, 153296080: 153296122
78MECP2NM_004992.3(MECP2): c.1157_1200del44 (p.Leu386Glnfs)deletionPathogenicrs63749748GRCh37Chr X, 153296079: 153296122
79MECP2NM_001110792.1(MECP2): c.1194_1203delGCCCCCACCT (p.Pro399Hisfs)deletionPathogenicrs63583161GRCh37Chr X, 153296112: 153296121
80MECP2NM_004992.3(MECP2): c.1158_1186del29 (p.Pro387Argfs)deletionPathogenicrs63749029GRCh37Chr X, 153296093: 153296121
81MECP2NM_004992.3(MECP2): c.1158_1186del29insCCA (p.Pro387Hisfs)indelPathogenicrs386134271GRCh37Chr X, 153296093: 153296121
82MECP2NM_004992.3(MECP2): c.1158_1198del41 (p.Pro387Glnfs)deletionPathogenicrs267608588GRCh37Chr X, 153296081: 153296121
83MECP2NM_004992.3(MECP2): c.1158_1200del43 (p.Pro387Alafs)deletionPathogenicrs63009262GRCh37Chr X, 153296079: 153296121
84MECP2NM_004992.3(MECP2): c.1159_1160delCCinsT (p.Pro387Serfs)indelPathogenicrs267608590GRCh37Chr X, 153296119: 153296120
85MECP2NM_004992.3(MECP2): c.1159_1201del43 (p.Pro387Alafs)deletionPathogenicrs63749030GRCh37Chr X, 153296078: 153296120
86MECP2NM_001110792.1(MECP2): c.1196_1202delCCCCACC (p.Pro399Leufs)deletionPathogenicrs267608595GRCh37Chr X, 153296113: 153296119
87MECP2NM_004992.3(MECP2): c.1160_1185del26 (p.Pro387Leufs)deletionPathogenicrs267608591GRCh37Chr X, 153296094: 153296119
88MECP2NM_004992.3(MECP2): c.1160_1188del29 (p.Pro387Argfs)deletionPathogenicrs267608593GRCh37Chr X, 153296091: 153296119
89MECP2NM_004992.3(MECP2): c.1160_1200del41 (p.Pro387Glnfs)deletionPathogenicrs267608592GRCh37Chr X, 153296079: 153296119
90MECP2NM_004992.3(MECP2): c.1161_1205del45insA (p.Pro389Terfs)indelPathogenicrs267608596GRCh37Chr X, 153296074: 153296118
91MECP2NM_004992.3(MECP2): c.1163_1179del17 (p.Pro388Argfs)deletionPathogenicrs267608601GRCh37Chr X, 153296100: 153296116
92MECP2NM_004992.3(MECP2): c.1163_1188del26 (p.Pro388Argfs)deletionPathogenicrs267608600GRCh37Chr X, 153296091: 153296116
93MECP2NM_004992.3(MECP2): c.1163_1197del35 (p.Pro388Hisfs)deletionPathogenicrs267608599GRCh37Chr X, 153296082: 153296116
94MECP2NM_004992.3(MECP2): c.1164_1206del43 (p.Pro389Leufs)deletionPathogenicrs267608603GRCh37Chr X, 153296073: 153296115
95MECP2NM_004992.3(MECP2): c.1164_1207del44 (p.Pro389Terfs)deletionPathogenicrs61752992GRCh37Chr X, 153296072: 153296115
96MECP2NM_004992.3(MECP2): c.1164delA (p.Pro389Leufs)deletionPathogenicrs267608606GRCh37Chr X, 153296115: 153296115
97MECP2NM_004992.3(MECP2): c.1165_1190del26 (p.Pro389Glyfs)deletionPathogenicrs267608607GRCh37Chr X, 153296089: 153296114
98MECP2NM_004992.3(MECP2): c.1167_1200del34 (p.Pro390Alafs)deletionPathogenicrs267608343GRCh37Chr X, 153296079: 153296112
99MECP2NM_004992.3(MECP2): c.(?_1169)_(1170_?)del (p.(?))deletionPathogenic
100MECP2NM_004992.3(MECP2): c.1170_1207del38 (p.Pro391Terfs)deletionPathogenicrs267608609GRCh37Chr X, 153296072: 153296109
101MECP2NM_004992.3(MECP2): c.117dupA (p.Glu40Argfs)duplicationPathogenicrs267608427GRCh37Chr X, 153297918: 153297918
102MECP2NM_004992.3(MECP2): c.1189G> T (p.Glu397Ter)single nucleotide variantPathogenicrs56268439GRCh37Chr X, 153296090: 153296090
103MECP2NM_004992.3(MECP2): c.1190dupA (p.Asp398Glyfs)duplicationPathogenicrs267608610GRCh37Chr X, 153296089: 153296089
104MECP2NM_004992.3(MECP2): c.1194_1195insT (p.Pro399Serfs)insertionPathogenicrs61753011GRCh37Chr X, 153296084: 153296085
105MECP2NM_004992.3(MECP2): c.1197dupC (p.Thr400Hisfs)duplicationPathogenicrs267608612GRCh37Chr X, 153296082: 153296082
106MECP2NM_004992.3(MECP2): c.119_120delAG (p.Glu40Glyfs)deletionPathogenicrs267608428GRCh37Chr X, 153297915: 153297916
107MECP2NM_004992.3(MECP2): c.1200dupC (p.Ser401Glnfs)duplicationPathogenicrs267608613GRCh37Chr X, 153296079: 153296079
108MECP2NM_004992.3(MECP2): c.1202dupG (p.Ser401Argfs)duplicationPathogenicrs267608614GRCh37Chr X, 153296077: 153296077
109MECP2NM_004992.3(MECP2): c.1216C> T (p.Gln406Ter)single nucleotide variantPathogenicrs61753965GRCh37Chr X, 153296063: 153296063
110MECP2NM_004992.3(MECP2): c.1223_1265del43 (p.Leu408Serfs)deletionPathogenicrs63749038GRCh37Chr X, 153296014: 153296056
111MECP2NM_004992.3(MECP2): c.1235_1260del26 (p.Val412Glyfs)deletionPathogenicrs267608617GRCh37Chr X, 153296019: 153296044
112MECP2NM_004992.3(MECP2): c.1265_1289del25insAGCGGCCG (p.Gly422Glufs)indelPathogenicrs63749064GRCh37Chr X, 153295990: 153296014
113MECP2NM_004992.3(MECP2): c.126dupG (p.His43Alafs)duplicationPathogenicrs61754430GRCh37Chr X, 153297909: 153297909
114MECP2NM_004992.3(MECP2): c.1308_1309delTC (p.Gln437Alafs)deletionPathogenicrs61753972GRCh37Chr X, 153295970: 153295971
115MECP2NM_004992.3(MECP2): c.1320dupT (p.Ala441Cysfs)duplicationPathogenicrs267608624GRCh37Chr X, 153295959: 153295959
116MECP2NM_004992.3(MECP2): c.1357C> T (p.Arg453Ter)single nucleotide variantPathogenicrs61753979GRCh37Chr X, 153295922: 153295922
117MECP2NM_004992.3(MECP2): c.1364_1365insC (p.Glu455Aspfs)insertionPathogenicrs267608627GRCh37Chr X, 153295914: 153295915
118MECP2NM_004992.3(MECP2): c.(?_1367)_(1431_?)del (p.(?))deletionPathogenic
119MECP2NM_004992.3(MECP2): c.140dupA (p.Pro48Alafs)duplicationPathogenicrs61754431GRCh37Chr X, 153297895: 153297895
120MECP2NM_004992.3(MECP2): c.1450_*12del24deletionPathogenicrs267608637GRCh37Chr X, 153295806: 153295829
121MECP2NM_004992.3(MECP2): c.1450_1453delAGAG (p.Arg484Leufs)deletionPathogenicrs267608638GRCh37Chr X, 153295826: 153295829
122MECP2NM_001110792.1(MECP2): c.1488_1489dupAG (p.Val497Glufs)duplicationPathogenicrs267608639GRCh37Chr X, 153295826: 153295827
123MECP2NM_001110792.1(MECP2): c.1490_1493delTTAG (p.Val497Alafs)deletionLikely pathogenicrs267608640GRCh37Chr X, 153295822: 153295825
124MECP2NM_004992.3(MECP2): c.1455_1456dupTA (p.Ser486Ilefs)duplicationPathogenicrs267608641GRCh37Chr X, 153295823: 153295824
125MECP2NM_004992.3(MECP2): c.146C> A (p.Ser49Ter)single nucleotide variantPathogenicrs61754432GRCh37Chr X, 153297889: 153297889
126MECP2NM_004992.3(MECP2): c.146C> G (p.Ser49Ter)single nucleotide variantPathogenicrs61754432GRCh37Chr X, 153297889: 153297889
127MECP2NM_004992.3(MECP2): c.189_190delGA (p.Glu63Aspfs)deletionPathogenicrs61754436GRCh37Chr X, 153297845: 153297846
128MECP2NM_004992.3(MECP2): c.194C> G (p.Ser65Ter)single nucleotide variantPathogenicrs61754437GRCh37Chr X, 153297841: 153297841
129MECP2NM_004992.3(MECP2): c.201delG (p.Ser68Glnfs)deletionPathogenicrs61754438GRCh37Chr X, 153297834: 153297834
130MECP2NM_004992.3(MECP2): c.203C> G (p.Ser68Ter)single nucleotide variantPathogenicrs267608438GRCh37Chr X, 153297832: 153297832
131MECP2NM_004992.3(MECP2): c.215_216insT (p.Ala73Glyfs)insertionPathogenicrs61754441GRCh37Chr X, 153297819: 153297820
132MECP2NM_004992.3(MECP2): c.215dupC (p.Ala73Glyfs)duplicationPathogenicrs61754441GRCh37Chr X, 153297820: 153297820
133MECP2NM_004992.3(MECP2): c.224C> T (p.Pro75Leu)single nucleotide variantPathogenicrs267608440GRCh37Chr X, 153297811: 153297811
134MECP2NM_004992.3(MECP2): c.233delC (p.Ser78Leufs)deletionPathogenicrs267608442GRCh37Chr X, 153297802: 153297802
135MECP2NM_004992.3(MECP2): c.243dupC (p.Lys82Glnfs)duplicationPathogenicrs267608443GRCh37Chr X, 153297792: 153297792
136MECP2NM_004992.3(MECP2): c.258_259delCA (p.Ile87Hisfs)deletionPathogenicrs267608444GRCh37Chr X, 153297776: 153297777
137MECP2NM_004992.3(MECP2): c.274G> T (p.Gly92Ter)single nucleotide variantPathogenicrs267608445GRCh37Chr X, 153297761: 153297761
138MECP2NM_004992.3(MECP2): c.275dupG (p.Pro93Thrfs)duplicationPathogenicrs267608446GRCh37Chr X, 153297760: 153297760
139MECP2NM_004992.3(MECP2): c.28G> T (p.Glu10Ter)single nucleotide variantPathogenicrs61754421GRCh37Chr X, 153298007: 153298007
140MECP2NM_004992.3(MECP2): c.295_297delACC (p.Thr99del)deletionPathogenicrs267608449GRCh37Chr X, 153297738: 153297740
141MECP2NM_004992.3(MECP2): c.302C> A (p.Pro101His)single nucleotide variantPathogenicrs61754453GRCh37Chr X, 153297733: 153297733
142MECP2NM_004992.3(MECP2): c.302C> G (p.Pro101Arg)single nucleotide variantPathogenicrs61754453GRCh37Chr X, 153297733: 153297733
143MECP2NM_004992.3(MECP2): c.302C> T (p.Pro101Leu)single nucleotide variantPathogenicrs61754453GRCh37Chr X, 153297733: 153297733
144MECP2NM_004992.3(MECP2): c.311G> A (p.Trp104Ter)single nucleotide variantPathogenicrs61754455GRCh37Chr X, 153297724: 153297724
145MECP2NM_001110792.1(MECP2): c.347_359delGGACACGGAAGCT (p.Trp116Leufs)deletionPathogenicrs63749010GRCh37Chr X, 153297712: 153297724
146MECP2NM_004992.3(MECP2): c.315dupA (p.Arg106Thrfs)duplicationPathogenicrs61754456GRCh37Chr X, 153297720: 153297720
147MECP2NM_004992.3(MECP2): c.317G> A (p.Arg106Gln)single nucleotide variantPathogenicrs61754457GRCh37Chr X, 153297718: 153297718
148MECP2NM_004992.3(MECP2): c.326dupA (p.Gln110Alafs)duplicationPathogenicrs267608452GRCh37Chr X, 153297709: 153297709
149MECP2NM_004992.3(MECP2): c.345delC (p.Ser116Leufs)deletionPathogenicrs61755761GRCh37Chr X, 153297690: 153297690
150MECP2NM_001110792.1(MECP2): c.71_78dupAGTCAGAA (p.Asp27Serfs)duplicationPathogenicrs63749008GRCh37Chr X, 153297993: 153298000
151MECP2NM_004992.3(MECP2): c.375delC (p.Asn126Ilefs)deletionPathogenicrs267608457GRCh37Chr X, 153297660: 153297660
152MECP2NM_004992.3(MECP2): c.382C> T (p.Gln128Ter)single nucleotide variantPathogenicrs267608469GRCh37Chr X, 153296897: 153296897
153MECP2NM_004992.3(MECP2): c.398G> A (p.Arg133His)single nucleotide variantPathogenicrs61748389GRCh37Chr X, 153296881: 153296881
154MECP2NM_004992.3(MECP2): c.401C> G (p.Ser134Cys)single nucleotide variantPathogenicrs61748390GRCh37Chr X, 153296878: 153296878
155MECP2NM_004992.3(MECP2): c.411delG (p.Glu137Aspfs)deletionPathogenicrs61748393GRCh37Chr X, 153296868: 153296868
156MECP2NM_004992.3(MECP2): c.413T> A (p.Leu138Ter)single nucleotide variantPathogenicrs267608475GRCh37Chr X, 153296866: 153296866
157MECP2NM_004992.3(MECP2): c.420delG (p.Tyr141Thrfs)deletionPathogenicrs267608476GRCh37Chr X, 153296859: 153296859
158MECP2NM_004992.3(MECP2): c.428_429insT (p.Glu143Aspfs)insertionPathogenicrs61748398GRCh37Chr X, 153296850: 153296851
159MECP2NM_004992.3(MECP2): c.430A> T (p.Lys144Ter)single nucleotide variantPathogenicrs61748399GRCh37Chr X, 153296849: 153296849
160MECP2NM_004992.3(MECP2): c.431delA (p.Lys144Argfs)deletionPathogenicrs61748400GRCh37Chr X, 153296848: 153296848
161MECP2NM_004992.3(MECP2): c.439delG (p.Asp147Thrfs)deletionPathogenicrs62952161GRCh37Chr X, 153296840: 153296840
162MECP2NM_004992.3(MECP2): c.451delG (p.Asp151Thrfs)deletionPathogenicrs61748402GRCh37Chr X, 153296828: 153296828
163MECP2NM_004992.3(MECP2): c.455C> G (p.Pro152Arg)single nucleotide variantPathogenicrs61748404GRCh37Chr X, 153296824: 153296824
164MECP2NM_004992.3(MECP2): c.470_471delTC (p.Phe157Tyrfs)deletionPathogenicrs267608483GRCh38Chr X, 154031357: 154031358
165MECP2NM_004992.3(MECP2): c.470dupT (p.Thr158Hisfs)duplicationPathogenicrs267608482GRCh37Chr X, 153296809: 153296809
166MECP2NM_004992.3(MECP2): c.475delG (p.Val159Terfs)deletionPathogenicrs267608485GRCh37Chr X, 153296804: 153296804
167MECP2NM_004992.3(MECP2): c.480_481delTG (p.Gly161Glufs)deletionPathogenicrs267608486GRCh37Chr X, 153296798: 153296799
168MECP2NM_004992.3(MECP2): c.480delT (p.Arg162Glufs)deletionPathogenicrs61748415GRCh37Chr X, 153296799: 153296799
169MECP2NM_004992.3(MECP2): c.483delG (p.Arg162Glufs)deletionPathogenicrs61748418GRCh37Chr X, 153296796: 153296796
170MECP2NM_004992.3(MECP2): c.484dupA (p.Arg162Lysfs)duplicationPathogenicrs267608487GRCh37Chr X, 153296795: 153296795
171MECP2NM_004992.3(MECP2): c.488_489delGG (p.Gly163Glufs)deletionPathogenicrs267608488GRCh37Chr X, 153296790: 153296791
172MECP2NM_004992.3(MECP2): c.499C> T (p.Arg167Trp)single nucleotide variantPathogenicrs61748420GRCh37Chr X, 153296780: 153296780
173MECP2NM_004992.3(MECP2): c.508C> T (p.Gln170Ter)single nucleotide variantPathogenicrs61748425GRCh38Chr X, 154031320: 154031320
174MECP2NM_004992.3(MECP2): c.50dupA (p.Asp17Glufs)duplicationPathogenicrs267608416GRCh37Chr X, 153297985: 153297985
175MECP2NM_004992.3(MECP2): c.518C> G (p.Pro173Arg)single nucleotide variantPathogenicrs267608492GRCh37Chr X, 153296761: 153296761
176MECP2NM_004992.3(MECP2): c.531delA (p.Lys177Asnfs)deletionPathogenicrs61749703GRCh37Chr X, 153296748: 153296748
177MECP2NM_004992.3(MECP2): c.538A> T (p.Lys180Ter)single nucleotide variantPathogenicrs267608495GRCh37Chr X, 153296741: 153296741
178MECP2NM_004992.3(MECP2): c.543_544delTC (p.Pro182Argfs)deletionPathogenicrs267608496GRCh37Chr X, 153296735: 153296736
179MECP2NM_004992.3(MECP2): c.554delG (p.Gly185Alafs)deletionPathogenicrs61749707GRCh37Chr X, 153296725: 153296725
180MECP2NM_004992.3(MECP2): c.55C> T (p.Gln19Ter)single nucleotide variantPathogenicrs61754425GRCh37Chr X, 153297980: 153297980
181MECP2NM_004992.3(MECP2): c.566delG (p.Gly189Aspfs)deletionPathogenicrs61749708GRCh37Chr X, 153296713: 153296713
182MECP2NM_004992.3(MECP2): c.566dupG (p.Arg190Thrfs)duplicationPathogenicrs267608499GRCh37Chr X, 153296713: 153296713
183MECP2NM_004992.3(MECP2): c.567dupA (p.Arg190Thrfs)duplicationPathogenicrs61749709GRCh37Chr X, 153296712: 153296712
184MECP2NM_004992.3(MECP2): c.56dupA (p.Leu21Profs)duplicationPathogenicrs267608417GRCh37Chr X, 153297979: 153297979
185MECP2NM_004992.3(MECP2): c.592A> T (p.Arg198Ter)single nucleotide variantPathogenicrs61749717GRCh37Chr X, 153296687: 153296687
186MECP2NM_004992.3(MECP2): c.598A> T (p.Lys200Ter)single nucleotide variantPathogenicrs61749718GRCh37Chr X, 153296681: 153296681
187MECP2NM_004992.3(MECP2): c.601dupG (p.Ala201Glyfs)duplicationPathogenicrs267608503GRCh37Chr X, 153296678: 153296678
188MECP2NM_004992.3(MECP2): c.608_609insA (p.Ser204Valfs)insertionPathogenicrs267608506GRCh37Chr X, 153296670: 153296671
189MECP2NM_001110792.1(MECP2): c.647_648delCAinsAG (p.Ser216Ter)indelPathogenicrs267608507GRCh37Chr X, 153296667: 153296668
190MECP2NM_004992.3(MECP2): c.613G> T (p.Glu205Ter)single nucleotide variantPathogenicrs61749726GRCh37Chr X, 153296666: 153296666
191MECP2NM_004992.3(MECP2): c.617delG (p.Gly206Valfs)deletionPathogenicrs61749727GRCh37Chr X, 153296662: 153296662
192MECP2NM_004992.3(MECP2): c.620dupT (p.Gln208Alafs)duplicationPathogenicrs61749728GRCh37Chr X, 153296659: 153296659
193MECP2NM_004992.3(MECP2): c.622C> T (p.Gln208Ter)single nucleotide variantPathogenicrs61749729GRCh37Chr X, 153296657: 153296657
194MECP2NM_004992.3(MECP2): c.(?_631)_(657_?)del (p.(?))deletionPathogenic
195MECP2NM_001110792.1(MECP2): c.677_689delAGAAAAGTCCTGG (p.Glu226Glyfs)deletionLikely pathogenicrs267608386GRCh37Chr X, 153296626: 153296638
196MECP2NM_004992.3(MECP2): c.64A> T (p.Lys22Ter)single nucleotide variantPathogenicrs62641234GRCh37Chr X, 153297971: 153297971
197MECP2NM_004992.3(MECP2): c.651_652delTG (p.Gly218Glufs)deletionPathogenicrs267608510GRCh37Chr X, 153296627: 153296628
198MECP2NM_004992.3(MECP2): c.654_657delGAAG (p.Lys219Serfs)deletionPathogenicrs61749734GRCh37Chr X, 153296622: 153296625
199MECP2NM_004992.3(MECP2): c.673C> A (p.Pro225Thr)single nucleotide variantPathogenicrs267608513GRCh37Chr X, 153296606: 153296606
200MECP2NM_004992.3(MECP2): c.674C> G (p.Pro225Arg)single nucleotide variantPathogenicrs61749715GRCh37Chr X, 153296605: 153296605
201MECP2NM_004992.3(MECP2): c.676_677insA (p.Phe226Tyrfs)insertionPathogenicrs267608514GRCh37Chr X, 153296602: 153296603
202MECP2NM_004992.3(MECP2): c.677_678insA (p.Phe226Leufs)insertionPathogenicrs61749736GRCh37Chr X, 153296601: 153296602
203MECP2NM_004992.3(MECP2): c.686C> A (p.Ser229Ter)single nucleotide variantPathogenicrs61749739GRCh37Chr X, 153296593: 153296593
204MECP2NM_004992.3(MECP2): c.695delG (p.Gly232Alafs)deletionPathogenicrs63260260GRCh38Chr X, 154031133: 154031133
205MECP2NM_004992.3(MECP2): c.695dupG (p.Lys233Glnfs)duplicationPathogenicrs267608516GRCh37Chr X, 153296584: 153296584
206MECP2NM_004992.3(MECP2): c.696delC (p.Lys233Argfs)deletionPathogenicrs61749741GRCh37Chr X, 153296583: 153296583
207MECP2NM_004992.3(MECP2): c.710dupG (p.Gly238Trpfs)duplicationPathogenicrs267608517GRCh37Chr X, 153296569: 153296569
208MECP2NM_004992.3(MECP2): c.720dupC (p.Thr241Hisfs)duplicationPathogenicrs267608518GRCh37Chr X, 153296559: 153296559
209MECP2NM_004992.3(MECP2): c.734_759del26 (p.Val245Glufs)deletionPathogenicrs267608519GRCh37Chr X, 153296520: 153296545
210MECP2NM_004992.3(MECP2): c.736_737insAT (p.Met246Asnfs)insertionPathogenicrs61749749GRCh37Chr X, 153296542: 153296543
211MECP2NM_001110792.1(MECP2): c.772_779delATGGTGATinsGTG (p.Met258Valfs)indelPathogenicrs267608520GRCh37Chr X, 153296536: 153296543
212MECP2NM_004992.3(MECP2): c.739delG (p.Val247Terfs)deletionPathogenicrs61749750GRCh37Chr X, 153296540: 153296540
213MECP2NM_001110792.1(MECP2): c.783_787dupACGCC (p.Pro263Hisfs)duplicationPathogenicrs61749751GRCh37Chr X, 153296528: 153296532
214MECP2NM_004992.3(MECP2): c.748_749insT (p.Arg250Leufs)insertionPathogenicrs61749752GRCh37Chr X, 153296530: 153296531
215MECP2NM_001110792.1(MECP2): c.784_789delCGCCCCinsGGCCG (p.Arg262Glyfs)indelPathogenicrs61750225GRCh37Chr X, 153296526: 153296531
216MECP2NM_004992.3(MECP2): c.748dupC (p.Arg250Profs)duplicationPathogenicrs61749752GRCh37Chr X, 153296531: 153296531
217MECP2NM_001110792.1(MECP2): c.786delCinsTCAGGAAGCTT (p.Pro263Glnfs)indelPathogenicrs267608521GRCh37Chr X, 153296529: 153296529
218MECP2NM_004992.3(MECP2): c.752_753dupCC (p.Gly252Profs)duplicationPathogenicrs267608522GRCh37Chr X, 153296526: 153296527
219MECP2NM_004992.3(MECP2): c.753delC (p.Gly252Alafs)deletionPathogenicrs61750231GRCh37Chr X, 153296526: 153296526
220MECP2NM_004992.3(MECP2): c.753dupC (p.Gly252Argfs)duplicationPathogenicrs61749751GRCh38Chr X, 154031075: 154031075
221MECP2NM_004992.3(MECP2): c.755delG (p.Gly252Alafs)deletionPathogenicrs61750233GRCh37Chr X, 153296524: 153296524
222MECP2NM_004992.3(MECP2): c.755dupG (p.Arg253Glnfs)duplicationPathogenicrs61750232GRCh37Chr X, 153296524: 153296524
223MECP2NM_004992.3(MECP2): c.756_759delCAGG (p.Arg253Serfs)deletionPathogenicrs267608523GRCh37Chr X, 153296520: 153296523
224MECP2NM_001110792.1(MECP2): c.792_799dupCAGGAAGC (p.Arg267Profs)duplicationPathogenicrs61750235GRCh37Chr X, 153296516: 153296523
225MECP2NM_001110792.1(MECP2): c.802_815dupAAAGCTGAGGCCGA (p.Asp272Glufs)duplicationPathogenicrs267608524GRCh37Chr X, 153296500: 153296513
226MECP2NM_004992.3(MECP2): c.76delC (p.Leu26Serfs)deletionPathogenicrs61754426GRCh37Chr X, 153297959: 153297959
227MECP2NM_004992.3(MECP2): c.784C> T (p.Gln262Ter)single nucleotide variantPathogenicrs267608525GRCh37Chr X, 153296495: 153296495
228MECP2NM_004992.3(MECP2): c.792_793delTC (p.Pro265Glnfs)deletionPathogenicrs267608526GRCh37Chr X, 153296486: 153296487
229MECP2NM_004992.3(MECP2): c.799A> T (p.Lys267Ter)single nucleotide variantPathogenicrs61750238GRCh37Chr X, 153296480: 153296480
230MECP2NM_004992.3(MECP2): c.808delC (p.Arg270Glufs)deletionPathogenicrs62931162GRCh37Chr X, 153296471: 153296471
231MECP2NM_004992.3(MECP2): c.810_813delAAAG (p.Lys271Argfs)deletionPathogenicrs267608529GRCh37Chr X, 153296466: 153296469
232MECP2NM_001110792.1(MECP2): c.848_854delAGCCGGG (p.Lys283Argfs)deletionPathogenicrs61750242GRCh37Chr X, 153296461: 153296467
233MECP2NM_004992.3(MECP2): c.816_832del17 (p.Gly273Argfs)deletionPathogenicrs63749012GRCh37Chr X, 153296447: 153296463
234MECP2NM_004992.3(MECP2): c.830delC (p.Ala277Glufs)deletionPathogenicrs61750247GRCh37Chr X, 153296449: 153296449
235MECP2NM_004992.3(MECP2): c.856_859delAAAG (p.Lys286Profs)deletionPathogenicrs61750256GRCh37Chr X, 153296420: 153296423
236MECP2NM_004992.3(MECP2): c.865A> T (p.Lys289Ter)single nucleotide variantPathogenicrs61750259GRCh37Chr X, 153296414: 153296414
237MECP2NM_004992.3(MECP2): c.865_866delAA (p.Lys289Glyfs)deletionPathogenicrs267608536GRCh37Chr X, 153296413: 153296414
238MECP2NM_004992.3(MECP2): c.869dupA (p.Ser291Valfs)duplicationPathogenicrs267608538GRCh37Chr X, 153296410: 153296410
239MECP2NM_004992.3(MECP2): c.874_875insA (p.Ser292Tyrfs)insertionPathogenicrs61751361GRCh37Chr X, 153296404: 153296405
240MECP2NM_001110792.1(MECP2): c.916_920delCGATC (p.Arg306Cysfs)deletionPathogenicrs61751364GRCh37Chr X, 153296395: 153296399
241MECP2NM_004992.3(MECP2): c.881_902del22 (p.Arg294Profs)deletionPathogenicrs267608540GRCh38Chr X, 154030926: 154030947
242MECP2NM_004992.3(MECP2): c.883delT (p.Ser295Leufs)deletionPathogenicrs267608541GRCh37Chr X, 153296396: 153296396
243MECP2NM_004992.3(MECP2): c.889C> T (p.Gln297Ter)single nucleotide variantPathogenicrs61751367GRCh37Chr X, 153296390: 153296390
244MECP2NM_001110792.1(MECP2): c.934_937delGTAC (p.Val312Serfs)deletionPathogenicrs62701461GRCh37Chr X, 153296378: 153296381
245MECP2NM_001110792.1(MECP2): c.934_940delGTACTCC (p.Val312Profs)deletionPathogenicrs267608543GRCh37Chr X, 153296375: 153296381
246MECP2NM_004992.3(MECP2): c.898delG (p.Val300Tyrfs)deletionPathogenicrs267608544GRCh37Chr X, 153296381: 153296381
247MECP2NM_004992.3(MECP2): c.905C> G (p.Pro302Arg)single nucleotide variantPathogenicrs61749723GRCh37Chr X, 153296374: 153296374
248MECP2NM_004992.3(MECP2): c.906delC (p.Ile303Serfs)deletionPathogenicrs267608548GRCh37Chr X, 153296373: 153296373
249MECP2NM_004992.3(MECP2): c.917G> A (p.Arg306His)single nucleotide variantPathogenicrs61751443GRCh37Chr X, 153296362: 153296362
250MECP2NM_004992.3(MECP2): c.91delG (p.Val31Terfs)deletionPathogenicrs61754427GRCh37Chr X, 153297944: 153297944
251MECP2NM_004992.3(MECP2): c.925C> T (p.Arg309Trp)single nucleotide variantPathogenicrs61751444GRCh37Chr X, 153296354: 153296354
252MECP2NM_004992.3(MECP2): c.964C> G (p.Pro322Ala)single nucleotide variantPathogenicrs61751449GRCh37Chr X, 153296315: 153296315
253MECP2NM_001110792.1(MECP2)indelPathogenicrs672601302GRCh37Chr X, 153296285: 153296290
254MECP2NM_004992.3(MECP2): c.994_998delAGCGG (p.Ser332Glufs)deletionPathogenicrs267608558GRCh37Chr X, 153296281: 153296285
255CDKL5NM_003159.2(CDKL5): c.1039C> T (p.Gln347Ter)single nucleotide variantPathogenicrs267608561GRCh37Chr X, 18622083: 18622083
256CDKL5NM_003159.2(CDKL5): c.1079delT (p.Leu360Profs)deletionPathogenicrs267608565GRCh37Chr X, 18622123: 18622123
257CDKL5NM_003159.2(CDKL5): c.1082dupC (p.Ala362Cysfs)duplicationPathogenicrs267608566GRCh37Chr X, 18622126: 18622126
258CDKL5NM_003159.2(CDKL5): c.1238C> G (p.Ser413Ter)single nucleotide variantPathogenicrs267608618GRCh37Chr X, 18622282: 18622282
259CDKL5NM_003159.2(CDKL5): c.125A> G (p.Lys42Arg)single nucleotide variantPathogenicrs267608429GRCh37Chr X, 18582622: 18582622
260CDKL5NM_003159.2(CDKL5): c.1311dupC (p.Ser438Glnfs)duplicationPathogenicrs267608623GRCh37Chr X, 18622355: 18622355
261CDKL5NM_003159.2(CDKL5): c.163_166delGAAA (p.Glu55Argfs)deletionPathogenicrs267608433GRCh37Chr X, 18593491: 18593494
262CDKL5NM_003159.2(CDKL5): c.1648C> T (p.Arg550Ter)single nucleotide variantPathogenicrs267608643GRCh37Chr X, 18622692: 18622692
263CDKL5NM_003159.2(CDKL5): c.1675C> T (p.Arg559Ter)single nucleotide variantPathogenicrs267608395GRCh37Chr X, 18622719: 18622719
264CDKL5NM_003159.2(CDKL5): c.1708G> T (p.Glu570Ter)single nucleotide variantPathogenicrs267608644GRCh37Chr X, 18622752: 18622752
265CDKL5NM_003159.2(CDKL5): c.175C> T (p.Arg59Ter)single nucleotide variantPathogenicrs62653623GRCh37Chr X, 18593503: 18593503
266CDKL5NM_003159.2(CDKL5): c.183delT (p.Met63Cysfs)deletionPathogenicrs62643608GRCh37Chr X, 18593511: 18593511
267CDKL5NM_003159.2(CDKL5): c.1892_1893dupTA (p.Gly632Terfs)duplicationPathogenicrs267608646GRCh38Chr X, 18604816: 18604817
268CDKL5NM_003159.2(CDKL5): c.191T> C (p.Leu64Pro)single nucleotide variantLikely pathogenicrs267608435GRCh37Chr X, 18593519: 18593519
269CDKL5NM_003159.2(CDKL5): c.1954C> T (p.Gln652Ter)single nucleotide variantPathogenicrs267608647GRCh37Chr X, 18626940: 18626940
270CDKL5NM_003159.2(CDKL5): c.199C> T (p.Leu67Phe)single nucleotide variantPathogenicrs267608437GRCh37Chr X, 18593527: 18593527
271CDKL5NM_003159.2(CDKL5): c.2016delC (p.Ser673Leufs)deletionPathogenicrs267608648GRCh37Chr X, 18627002: 18627002
272CDKL5NM_003159.2(CDKL5): c.2016dupC (p.Ser673Leufs)duplicationPathogenicrs267608649GRCh37Chr X, 18627002: 18627002
273CDKL5NM_003159.2(CDKL5): c.2045_2046delAGins18 (p.?)indelPathogenicrs672601303GRCh37Chr X, 18627031: 18627032
274CDKL5NM_003159.2(CDKL5): c.2066delC (p.Pro689Hisfs)deletionPathogenicrs267608651GRCh37Chr X, 18627604: 18627604
275CDKL5NM_003159.2(CDKL5): c.2152G> A (p.Val718Met)single nucleotide variantLikely pathogenic, Pathogenicrs267608653GRCh37Chr X, 18627690: 18627690
276CDKL5NM_003159.2(CDKL5): c.215T> A (p.Ile72Asn)single nucleotide variantPathogenicrs62641235GRCh37Chr X, 18593543: 18593543
277CDKL5NM_003159.2(CDKL5): c.229_232delGAAG (p.Glu77Hisfs)deletionPathogenicrs267608441GRCh37Chr X, 18593557: 18593560
278CDKL5NM_003159.2(CDKL5): c.2325_2326delGA (p.Lys776Alafs)deletionPathogenicrs267608654GRCh37Chr X, 18638035: 18638036
279CDKL5NM_003159.2(CDKL5): c.2343delG (p.Arg781Serfs)deletionPathogenicrs62643614GRCh37Chr X, 18638053: 18638053
280CDKL5NM_003159.2(CDKL5): c.2363_2367delAGAAA (p.Lys788Ilefs)deletionPathogenicrs267608655GRCh37Chr X, 18638073: 18638077
281CDKL5NM_003159.2(CDKL5): c.2413C> T (p.Gln805Ter)single nucleotide variantPathogenicrs267608659GRCh37Chr X, 18643284: 18643284
282CDKL5NM_003159.2(CDKL5): c.2504delC (p.Pro835Hisfs)deletionPathogenicrs267608660GRCh37Chr X, 18646498: 18646498
283CDKL5NM_003159.2(CDKL5): c.2529delA (p.Leu843Phefs)deletionPathogenicrs267608661GRCh37Chr X, 18646523: 18646523
284CDKL5NM_003159.2(CDKL5): c.2572delC (p.Arg858Alafs)deletionPathogenicrs267608662GRCh37Chr X, 18646566: 18646566
285CDKL5NM_003159.2(CDKL5): c.2593C> T (p.Gln865Ter)single nucleotide variantPathogenicrs267608663GRCh37Chr X, 18646587: 18646587
286CDKL5NM_003159.2(CDKL5): c.2635_2636delCT (p.Leu879Glufs)deletionPathogenicrs61753251GRCh38Chr X, 18628509: 18628510
287CDKL5NM_003159.2(CDKL5): c.352C> T (p.Gln118Ter)single nucleotide variantPathogenicrs267608453GRCh37Chr X, 18598037: 18598037
288CDKL5NM_003159.2(CDKL5): c.380A> G (p.His127Arg)single nucleotide variantLikely pathogenic, Pathogenicrs267608468GRCh37Chr X, 18598065: 18598065
289CDKL5NM_003159.2(CDKL5): c.39delT (p.Phe13Leufs)deletionPathogenicrs267608415GRCh37Chr X, 18525255: 18525255
290CDKL5NM_003159.2(CDKL5): c.400C> T (p.Arg134Ter)single nucleotide variantPathogenicrs267608472GRCh37Chr X, 18598085: 18598085
291CDKL5NM_003159.2(CDKL5): c.425T> A (p.Leu142Ter)single nucleotide variantPathogenicrs267608477GRCh37Chr X, 18600032: 18600032
292CDKL5NM_003159.2(CDKL5): c.513C> A (p.Tyr171Ter)single nucleotide variantPathogenicrs267608490GRCh37Chr X, 18602432: 18602432
293CDKL5NM_003159.2(CDKL5): c.532C> T (p.Arg178Trp)single nucleotide variantLikely pathogenic, Pathogenicrs267608493GRCh37Chr X, 18602451: 18602451
294CDKL5NM_003159.2(CDKL5): c.539C> T (p.Pro180Leu)single nucleotide variantPathogenicrs61749704GRCh37Chr X, 18602458: 18602458
295CDKL5NM_003159.2(CDKL5): c.549dupA (p.Leu184Thrfs)duplicationPathogenicrs267608497GRCh37Chr X, 18602468: 18602468
296CDKL5NM_003159.2(CDKL5): c.578A> G (p.Asp193Gly)single nucleotide variantPathogenicrs267608500GRCh37Chr X, 18606097: 18606097
297CDKL5NM_003159.2(CDKL5): c.587C> T (p.Ser196Leu)single nucleotide variantLikely pathogenic, Pathogenicrs267608501GRCh37Chr X, 18606106: 18606106
298CDKL5NM_003159.2(CDKL5): c.58G> C (p.Gly20Arg)single nucleotide variantLikely pathogenicrs267608418GRCh37Chr X, 18525274: 18525274
299CDKL5NM_003159.2(CDKL5): c.607G> T (p.Glu203Ter)single nucleotide variantPathogenicrs267608505GRCh37Chr X, 18606126: 18606126
300CDKL5NM_003159.2(CDKL5): c.659T> C (p.Leu220Pro)single nucleotide variantPathogenicrs267608511GRCh37Chr X, 18606178: 18606178
301CDKL5NM_003159.2(CDKL5): c.65dupG (p.Ala23Serfs)duplicationPathogenicrs267608420GRCh37Chr X, 18528940: 18528940
302CDKL5NM_003159.2(CDKL5): c.680T> G (p.Leu227Arg)single nucleotide variantLikely pathogenicrs267608515GRCh37Chr X, 18606199: 18606199
303CDKL5NM_003159.2(CDKL5): c.801_802delTA (p.Asn267Lysfs)deletionPathogenicrs267608528GRCh37Chr X, 18613524: 18613525
304CDKL5NM_003159.2(CDKL5): c.838_847delTTGGACCCAG (p.Asp281Thrfs)deletionPathogenicrs61750250GRCh37Chr X, 18616594: 18616603
305CDKL5NM_003159.2(CDKL5): c.855A> C (p.Arg285Ser)single nucleotide variantLikely pathogenicrs267608532GRCh37Chr X, 18616611: 18616611
306CDKL5NM_003159.2(CDKL5): c.867dupA (p.Gln290Thrfs)duplicationPathogenicrs267608537GRCh37Chr X, 18616623: 18616623
307CDKL5NM_003159.2(CDKL5): c.884delC (p.Pro295Leufs)deletionPathogenicrs267608542GRCh37Chr X, 18616640: 18616640
308CDKL5NM_003159.2(CDKL5): c.964dupA (p.Thr322Asnfs)duplicationPathogenicrs267608552GRCh37Chr X, 18616720: 18616720
309MECP2NM_004992.3(MECP2): c.26+2T> Asingle nucleotide variantPathogenicrs267608409GRCh38Chr X, 154092182: 154092182
310MECP2NM_004992.3(MECP2): c.27-2A> Gsingle nucleotide variantPathogenicrs267608412GRCh38Chr X, 154032559: 154032559
311MECP2NM_004992.3(MECP2): c.27-6C> Gsingle nucleotide variantPathogenicrs267608411GRCh38Chr X, 154032563: 154032563
312MECP2NM_004992.3(MECP2): c.377+1G> Asingle nucleotide variantPathogenicrs267608463GRCh37Chr X, 153297657: 153297657
313MECP2NM_004992.3(MECP2): c.377+1G> Tsingle nucleotide variantPathogenicrs267608463GRCh38Chr X, 154032206: 154032206
314MECP2NM_004992.3(MECP2): c.378-2A> Csingle nucleotide variantPathogenicrs267608464GRCh38Chr X, 154031452: 154031452
315MECP2NM_004992.3(MECP2): c.378-2A> Gsingle nucleotide variantPathogenicrs267608464GRCh38Chr X, 154031452: 154031452
316MECP2NM_004992.3(MECP2): c.378-2A> Tsingle nucleotide variantPathogenicrs267608464GRCh37Chr X, 153296903: 153296903
317MECP2NM_004992.3(MECP2): c.378-3C> Gsingle nucleotide variantPathogenicrs267608465GRCh37Chr X, 153296904: 153296904
318CDKL5NM_003159.2(CDKL5): c.100-2A> Gsingle nucleotide variantPathogenicrs267608423GRCh38Chr X, 18564475: 18564475
319CDKL5NM_003159.2(CDKL5): c.145+2T> Csingle nucleotide variantPathogenicrs267608430GRCh37Chr X, 18582644: 18582644
320CDKL5NM_003159.2(CDKL5): c.2047-1G> Asingle nucleotide variantPathogenicrs267608650GRCh38Chr X, 18609464: 18609464
321CDKL5NM_003159.2(CDKL5): c.2376+1G> Asingle nucleotide variantPathogenicrs267608656GRCh38Chr X, 18619967: 18619967
322CDKL5NM_003159.2(CDKL5): c.2376+1G> Csingle nucleotide variantPathogenicrs267608656GRCh37Chr X, 18638087: 18638087
323CDKL5NM_003159.2(CDKL5): c.404-1G> Tsingle nucleotide variantPathogenicrs267608474GRCh37Chr X, 18600010: 18600010
324CDKL5NM_003159.2(CDKL5): c.463+1G> Asingle nucleotide variantPathogenicrs267608479GRCh37Chr X, 18600071: 18600071
325CDKL5NM_003159.2(CDKL5): c.464-2A> Gsingle nucleotide variantPathogenicrs267608480GRCh37Chr X, 18602381: 18602381
326CDKL5NM_003159.2(CDKL5): c.64+2delTdeletionPathogenicrs267608419GRCh38Chr X, 18507162: 18507162
327CDKL5NM_003159.2(CDKL5): c.978-2A> Gsingle nucleotide variantPathogenicrs267608553GRCh37Chr X, 18622020: 18622020
328CDKL5NM_003159.2(CDKL5): c.99+1G> Tsingle nucleotide variantPathogenicrs267608421GRCh38Chr X, 18510855: 18510855
329MECP2NM_004992.3(MECP2): c.1116_1201del86 (p.His372Glnfs)deletionPathogenicGRCh38Chr X, 154030627: 154030712
330CDKL5NM_003159.2(CDKL5): c.211A> G (p.Asn71Asp)single nucleotide variantLikely pathogenic, Pathogenicrs587783072GRCh38Chr X, 18575419: 18575419
331CDKL5NM_003159.2(CDKL5): c.99+5G> Asingle nucleotide variantPathogenicrs587783131GRCh38Chr X, 18510859: 18510859
332MECP2NM_001110792.1(MECP2): c.1A> T (p.Met1Leu)single nucleotide variantPathogenicrs587783132GRCh38Chr X, 154097665: 154097665
333CDKL5NM_003159.2(CDKL5): c.2596C> T (p.Gln866Ter)single nucleotide variantPathogenicrs587783158GRCh37Chr X, 18646590: 18646590
334CDKL5NM_003159.2(CDKL5): c.1345_1346delGA (p.Glu449Lysfs)deletionPathogenicrs587783398GRCh37Chr X, 18622389: 18622390
335CDKL5NM_003159.2(CDKL5): c.146-1G> Asingle nucleotide variantPathogenicrs587783399GRCh37Chr X, 18593473: 18593473
336CDKL5NM_003159.2(CDKL5): c.1797dupC (p.Ser600Glnfs)duplicationPathogenicrs587783401GRCh37Chr X, 18622841: 18622841
337CDKL5NM_003159.2(CDKL5): c.526T> C (p.Trp176Arg)single nucleotide variantLikely pathogenicrs587783084GRCh37Chr X, 18602445: 18602445
338CDKL5NM_003159.2(CDKL5): c.622C> T (p.Gln208Ter)single nucleotide variantPathogenicrs587783405GRCh37Chr X, 18606141: 18606141
339CDKL5NM_003159.2(CDKL5): c.62A> G (p.Glu21Gly)single nucleotide variantLikely pathogenic, Pathogenicrs587783406GRCh37Chr X, 18525278: 18525278
340FOXG1NM_005249.4(FOXG1): c.135_136dupCC (p.Gln46Profs)duplicationPathogenicrs587783629GRCh37Chr 14, 29236620: 29236621
341FOXG1NM_005249.4(FOXG1): c.170_179delACCCGCCGCC (p.His57Argfs)deletionPathogenicrs587783631GRCh37Chr 14, 29236655: 29236664
342FOXG1NM_005249.4(FOXG1): c.263_278del16 (p.Arg88Profs)deletionPathogenicrs587783635GRCh37Chr 14, 29236748: 29236763
343FOXG1NM_005249.4(FOXG1): c.757A> G (p.Asn253Asp)single nucleotide variantPathogenicrs587783641GRCh38Chr 14, 28768036: 28768036
344FOXG1NM_005249.4(FOXG1): c.762C> G (p.Tyr254Ter)single nucleotide variantPathogenicrs587783642GRCh37Chr 14, 29237247: 29237247
345FOXG1NM_005249.4(FOXG1): c.765G> T (p.Trp255Cys)single nucleotide variantPathogenicrs121913678GRCh37Chr 14, 29237250: 29237250
346FOXG1NM_005249.4(FOXG1): c.799G> A (p.Gly267Ser)single nucleotide variantLikely pathogenicrs587783643GRCh37Chr 14, 29237284: 29237284
347MECP2NM_001110792.1(MECP2): c.520A> G (p.Arg174Gly)single nucleotide variantPathogenicrs727505391GRCh37Chr X, 153296795: 153296795
348CDKL5NM_003159.2(CDKL5): c.533G> C (p.Arg178Pro)single nucleotide variantPathogenicrs267606715GRCh37Chr X, 18602452: 18602452
349MECP2NM_004992.3(MECP2): c.573delC (p.Ser194Alafs)deletionLikely pathogenicrs786204307GRCh37Chr X, 153296706: 153296706
350MECP2NM_001110792.1(MECP2): c.738_752delTGAGGGGGGTGGGGC (p.Glu247_Ala251del)deletionLikely pathogenicrs786204309GRCh38Chr X, 154031112: 154031126
351MECP2NM_001110792.1(MECP2): c.790_818del29 (p.Gly264Serfs)deletionLikely pathogenicrs786204310GRCh38Chr X, 154031046: 154031074
352MECP2NM_001110792.1(MECP2): c.853_871dup19 (p.Ala291Glyfs)duplicationLikely pathogenicrs786204311GRCh38Chr X, 154030993: 154031011
353MECP2NM_001110792.1(MECP2): c.1289_1492del204 (p.Met430_Val497del)deletionPathogenicGRCh38Chr X, 154030372: 154030575
354MECP2NM_004992.3(MECP2): c.1410_1411delCA (p.Asn470Lysfs)deletionLikely pathogenicrs786204316GRCh38Chr X, 154030417: 154030418
355MECP2NM_001110792.1(MECP2): c.863_*44del679deletionLikely pathogenicGRCh38Chr X, 154030323: 154031001
356CDKL5NM_003159.2(CDKL5): c.-253_-163+?deldeletionLikely pathogenicGRCh37Chr X, 18443725: 18443815
357CDKL5NM_003159.2(CDKL5): c.473G> C (p.Arg158Pro)single nucleotide variantLikely pathogenicrs757402424GRCh38Chr X, 18584272: 18584272
358CDKL5NM_003159.2(CDKL5): c.656A> C (p.Gln219Pro)single nucleotide variantLikely pathogenicrs786204963GRCh37Chr X, 18606175: 18606175
359CDKL5NM_003159.2(CDKL5): c.100-?_145+?deldeletionPathogenic
360CDKL5NM_003159.2(CDKL5): c.1008_1029del22 (p.Ser337Argfs)deletionPathogenicrs786204964GRCh38Chr X, 18603932: 18603953
361CDKL5NM_003159.2(CDKL5): c.1090G> T (p.Glu364Ter)single nucleotide variantPathogenicrs786204966GRCh37Chr X, 18622134: 18622134
362CDKL5NM_003159.2(CDKL5): c.1341delC (p.Phe447Leufs)deletionPathogenicrs786204968GRCh38Chr X, 18604265: 18604265
363CDKL5NM_003159.2(CDKL5): c.1375C> T (p.Gln459Ter)single nucleotide variantPathogenicrs786204969GRCh37Chr X, 18622419: 18622419
364CDKL5NM_003159.2(CDKL5): c.1417dupA (p.Ile473Asnfs)duplicationPathogenicrs786204970GRCh38Chr X, 18604341: 18604341
365NM_003159.2(CDKL5): c.146-?_*85deldeletionPathogenicGRCh37Chr X, 18593474: 18671749
366CDKL5NM_003159.2(CDKL5): c.1550delT (p.Phe517Serfs)deletionPathogenicrs786204972GRCh38Chr X, 18604474: 18604474
367NM_003159.2(CDKL5): c.-162-?_*85deldeletionPathogenicGRCh37Chr X, 18525055: 18671749
368CDKL5NM_003159.2(CDKL5): c.-162-?_145+?deldeletionPathogenic
369CDKL5NM_003159.2(CDKL5): c.-162-?_64+?deldeletionPathogenic
370CDKL5NM_003159.2(CDKL5): c.-162-?_99+?deldeletionPathogenic
371CDKL5NM_003159.2(CDKL5): c.-162-2A> Gsingle nucleotide variantPathogenicrs786204973GRCh38Chr X, 18506933: 18506933
372CDKL5NM_003159.2(CDKL5): c.1784dupG (p.Leu596Thrfs)duplicationPathogenicrs786204974GRCh37Chr X, 18622828: 18622828
373CDKL5NM_003159.2(CDKL5): c.1854delC (p.Asp618Glufs)deletionPathogenicrs786204975GRCh37Chr X, 18622898: 18622898
374CDKL5NM_003159.2(CDKL5): c.2046+1G> Asingle nucleotide variantPathogenicrs786204976GRCh37Chr X, 18627033: 18627033
375CDKL5NM_003159.2(CDKL5): c.207_213delGGAAAAC (p.Glu70Leufs)deletionPathogenicrs786204977GRCh37Chr X, 18593535: 18593541
376CDKL5NM_003159.2(CDKL5): c.2105_2106delAC (p.His702Profs)deletionPathogenicrs786204978GRCh37Chr X, 18627643: 18627644
377CDKL5NM_003159.2(CDKL5): c.2277-2A> Gsingle nucleotide variantPathogenicrs786204979GRCh38Chr X, 18619865: 18619865
378NM_003159.2(CDKL5): c.2377-?_*85deldeletionPathogenicGRCh37Chr X, 18643248: 18671749
379CDKL5NM_003159.2(CDKL5): c.2494C> T (p.Gln832Ter)single nucleotide variantPathogenicrs17857094GRCh38Chr X, 18625245: 18625245
380NM_003159.2(CDKL5): c.2497-?_*85deldeletionPathogenicGRCh37Chr X, 18646491: 18671749
381CDKL5NM_003159.2(CDKL5): c.(?_-253)_(*85_?)deldeletionPathogenic
382CDKL5NM_003159.2(CDKL5): c.(?_-253)_-162-27968deldeletionPathogenicGRCh37Chr X, 18443725: 18497087
383CDKL5NM_003159.2(CDKL5): c.-253_2276+?deldeletionPathogenicGRCh37Chr X, 18443725: 18631395
384CDKL5NM_003159.2(CDKL5): c.-253_64+?deldeletionPathogenicGRCh37Chr X, 18443725: 18525280
385CDKL5NM_003159.2(CDKL5): c.-253_825+?deldeletionPathogenicGRCh37Chr X, 18443725: 18613548
386CDKL5NM_003159.2(CDKL5): c.-253_977+?del1230deletionPathogenicGRCh37Chr X, 18443725: 18616733
387CDKL5NM_003159.2(CDKL5): c.-253_99+?deldeletionPathogenicGRCh37Chr X, 18443725: 18528974
388CDKL5NM_003159.2(CDKL5): c.2704C> T (p.Gln902Ter)single nucleotide variantPathogenicrs786204981GRCh37Chr X, 18646698: 18646698
389CDKL5NM_003159.2(CDKL5): c.275_276insAA (p.Glu93Metfs)insertionPathogenicrs786204982GRCh37Chr X, 18593603: 18593604
390CDKL5NM_003159.2(CDKL5): c.283-3_290del11deletionPathogenicrs786204983GRCh38Chr X, 18579845: 18579855
391CDKL5NM_003159.2(CDKL5): c.403+1G> Asingle nucleotide variantPathogenicrs786204984GRCh38Chr X, 18579969: 18579969
392CDKL5NM_003159.2(CDKL5): c.404-?_554+?deldeletionPathogenic
393CDKL5NM_003159.2(CDKL5): c.404-1385_554+59deldeletionPathogenicGRCh37Chr X, 18598626: 18602532
394CDKL5NM_003159.2(CDKL5): c.404-1G> Asingle nucleotide variantPathogenicrs267608474GRCh38Chr X, 18581890: 18581890
395CDKL5NM_003159.2(CDKL5): c.458A> G (p.Asp153Gly)single nucleotide variantPathogenicrs786204985GRCh38Chr X, 18581945: 18581945
396CDKL5NM_003159.2(CDKL5): c.464-1G> Asingle nucleotide variantPathogenicrs786204986GRCh38Chr X, 18584262: 18584262
397CDKL5NM_003159.2(CDKL5): c.506_507delCA (p.Thr169Argfs)deletionPathogenicrs786204987GRCh37Chr X, 18602425: 18602426
398CDKL5NM_003159.2(CDKL5): c.510_511dupGT (p.Tyr171Cysfs)duplicationPathogenicrs786204988GRCh38Chr X, 18584309: 18584310
399CDKL5NM_003159.2(CDKL5): c.526T> G (p.Trp176Gly)single nucleotide variantPathogenicrs587783084GRCh38Chr X, 18584325: 18584325
400CDKL5NM_003159.2(CDKL5): c.528G> T (p.Trp176Cys)single nucleotide variantPathogenicrs786204989GRCh38Chr X, 18584327: 18584327
401CDKL5NM_003159.2(CDKL5): c.65-?_99+?deldeletionPathogenic
402CDKL5NM_003159.2(CDKL5): c.660_664dupTTTTA (p.Thr222Ilefs)duplicationPathogenicrs786204990GRCh38Chr X, 18588059: 18588063
403CDKL5NM_003159.2(CDKL5): c.745-?_825+?deldeletionPathogenic
404CDKL5NM_003159.2(CDKL5): c.91A> G (p.Arg31Gly)single nucleotide variantPathogenicrs786204991GRCh37Chr X, 18528966: 18528966
405CDKL5NM_003159.2(CDKL5): c.942delA (p.Lys314Asnfs)deletionPathogenicrs786204992GRCh38Chr X, 18598578: 18598578
406FOXG1NM_005249.4(FOXG1): c.1248C> G (p.Tyr416Ter)single nucleotide variantPathogenicrs786204999GRCh37Chr 14, 29237733: 29237733
407FOXG1NM_005249.4(FOXG1): c.505_506delGGinsT (p.Gly169Serfs)indelPathogenicrs786205003GRCh38Chr 14, 28767784: 28767785
408FOXG1NM_005249.4(FOXG1): c.552dupC (p.Ser185Glnfs)duplicationPathogenicrs786205004GRCh37Chr 14, 29237037: 29237037
409FOXG1NM_005249.4(FOXG1): c.577G> A (p.Ala193Thr)single nucleotide variantPathogenicrs786205005GRCh37Chr 14, 29237062: 29237062
410FOXG1NM_005249.4(FOXG1): c.689G> A (p.Arg230His)single nucleotide variantPathogenicrs786205007GRCh38Chr 14, 28767968: 28767968
411FOXG1NM_005249.4(FOXG1): c.788_792delACGTG (p.Asp263Valfs)deletionPathogenicrs786205010GRCh38Chr 14, 28768067: 28768071
412FOXG1NM_005249.4(FOXG1): c.969delC (p.Ser323Argfs)deletionPathogenicrs786205011GRCh37Chr 14, 29237454: 29237454
413MECP2NM_004992.3(MECP2): c.(?_1169)_*(1_?)deldeletionPathogenicGRCh37Chr X, 153295817: 153296110
414MECP2NM_004992.3(MECP2): c.1012_1193del182 (p.Thr338Profs)deletionPathogenicGRCh37Chr X, 153296086: 153296267
415MECP2NM_004992.3(MECP2): c.1012_1202del191 (p.Thr338Profs)deletionPathogenicGRCh38Chr X, 154030626: 154030816
416MECP2NM_004992.3(MECP2): c.(?_1017)_(1397_?)del (p.(?))deletionPathogenicGRCh37Chr X, 153295882: 153296262
417NC_000023.10: g.153281346_153296256del14911deletionPathogenicGRCh37Chr X, 153281346: 153296256
418MECP2NM_001110792.1(MECP2): c.1064_1194del131 (p.Gly355Alafs)deletionPathogenicGRCh38Chr X, 154030670: 154030800
419MECP2NM_004992.3(MECP2): c.1030_1195del166insGT (p.Arg344Valfs)indelPathogenicGRCh37Chr X, 153296084: 153296249
420MECP2NM_004992.3(MECP2): c.1039_1195del157insGT (p.Lys347Valfs)indelPathogenicGRCh37Chr X, 153296084: 153296240
421MECP2NM_004992.3(MECP2): c.(?_1044)_(1442_?)del (p.(?))deletionPathogenicGRCh37Chr X, 153295837: 153296235
422MECP2NM_004992.3(MECP2): c.1046_1206del161 (p.Ser349Thrfs)deletionPathogenicGRCh38Chr X, 154030622: 154030782
423MECP2NM_001110792.1(MECP2): c.1084_1235del152 (p.Ser362Glnfs)deletionPathogenicGRCh38Chr X, 154030629: 154030780
424MECP2NM_004992.3(MECP2): c.1052_1200del149 (p.Pro351Glnfs)deletionPathogenicGRCh38Chr X, 154030628: 154030776
425MECP2NM_004992.3(MECP2): c.1057_1219del163 (p.Gly353Thrfs)deletionPathogenicGRCh37Chr X, 153296060: 153296222
426MECP2NM_004992.3(MECP2): c.1078_*2524del2908deletionPathogenicGRCh37Chr X, 153293294: 153296201
427MECP2NM_004992.3(MECP2): c.1096_1201del106 (p.His366Alafs)deletionPathogenicGRCh37Chr X, 153296078: 153296183
428MECP2NM_004992.3(MECP2): c.1097_*13del378deletionPathogenicGRCh37Chr X, 153295805: 153296182
429MECP2NM_004992.3(MECP2): c.1097_1203del107 (p.His366Profs)deletionPathogenicGRCh38Chr X, 154030625: 154030731
430MECP2NM_004992.3(MECP2): c.1101_1201del101 (p.His367Glnfs)deletionPathogenicGRCh37Chr X, 153296078: 153296178
431MECP2NM_004992.3(MECP2): c.1101_(1396_?)del (p.His(368_?)Alafs)deletionPathogenicGRCh38Chr X, 154030432: 154030727
432MECP2NM_004992.3(MECP2): c.1105_1225del121 (p.His369Alafs)deletionPathogenicGRCh37Chr X, 153296054: 153296174
433MECP2NM_004992.3(MECP2): c.1115_1326del212 (p.His372Argfs)deletionPathogenicGRCh37Chr X, 153295953: 153296164
434MECP2NM_004992.3(MECP2): c.1121_1191del71 (p.Glu374Glyfs)deletionPathogenicGRCh37Chr X, 153296088: 153296158
435MECP2NM_004992.3(MECP2): c.1123_1202del80 (p.Ser375Profs)deletionPathogenicGRCh38Chr X, 154030626: 154030705
436MECP2NM_004992.3(MECP2): c.1127_1179del53 (p.Pro376Argfs)deletionPathogenicGRCh38Chr X, 154030649: 154030701
437MECP2NM_001110792.1(MECP2): c.1165_*568delinsCCGTGGindelPathogenicGRCh37Chr X, 153295250: 153296150
438MECP2NM_004992.3(MECP2): c.1132_1202del71 (p.Ala378Profs)deletionPathogenicGRCh37Chr X, 153296077: 153296147
439MECP2NM_004992.3(MECP2): c.1142_1227del86 (p.Pro381Glnfs)deletionPathogenicGRCh37Chr X, 153296052: 153296137
440MECP2NM_001110792.1(MECP2): c.1188_*29del339deletionPathogenicGRCh37Chr X, 153295789: 153296127
441MECP2NM_004992.3(MECP2): c.1157_*944del1249deletionPathogenicGRCh37Chr X, 153294874: 153296122
442MECP2NM_004992.3(MECP2): c.1159_1458del300 (p.Pro387_Ser486del)deletionPathogenicGRCh37Chr X, 153295821: 153296120
443MECP2NM_004992.3(MECP2): c.1163_*39del338deletionPathogenicGRCh37Chr X, 153295779: 153296116
444MECP2NM_001110792.1(MECP2)indelPathogenicrs786205019GRCh38Chr X, 154030644: 154030664
445MECP2NM_004992.3(MECP2): c.1164_1194del31 (p.Pro391Alafs)deletionPathogenicrs786205020GRCh37Chr X, 153296085: 153296115
446MECP2NM_004992.3(MECP2): c.(?_1169)_(1397_?)del (p.(?))deletionPathogenicGRCh37Chr X, 153295882: 153296110
447MECP2NM_004992.3(MECP2): c.1180_1181insT (p.Glu394Valfs)insertionPathogenicrs786205021GRCh37Chr X, 153296098: 153296099
448MECP2NM_004992.3(MECP2): c.1196_1266del71 (p.Pro399Leufs)deletionPathogenicGRCh38Chr X, 154030562: 154030632
449MECP2NM_004992.3(MECP2): c.1276_*113del299ins3indelPathogenicGRCh38Chr X, 154030254: 154030552
450MECP2NM_004992.3(MECP2): c.(?_1336)_*(1_?)deldeletionPathogenicGRCh37Chr X, 153295817: 153295943
451MECP2NM_001110792.1(MECP2): c.1444_1447delAACAinsTG (p.Asn482Trpfs)indelPathogenicrs786205023GRCh38Chr X, 154030417: 154030420
452MECP2NM_004992.3: c.(?_184)_(1065_?)deldeletionPathogenic
453MECP2NM_004992.3(MECP2): c.(?_-226)_(*1_?)deldeletionPathogenic
454MECP2NM_004992.3(MECP2): c.(?_-226)_26+?deldeletionPathogenicGRCh37Chr X, 153357642: 153363188
455MECP2NM_004992.3(MECP2): c.(?_248)_(320_?)del (p.(?))deletionPathogenicGRCh37Chr X, 153297715: 153297787
456NC_000023.10indelPathogenicGRCh37Chr X, 153281940: 153332471
457MECP2NM_004992.3: c.(?_27)_(378_1461)deldeletionPathogenic
458MECP2NM_004992.3: c.(?_27)_(*1_?)deldeletionPathogenic
459MECP2NM_004992.3: c.(?_27)_(*8554_?)deldeletionPathogenic
460MECP2NM_004992.3: c.(?_27)_(1018_?)deldeletionPathogenic
461MECP2NM_004992.3: c.(?_27)_(1021_?)deldeletionPathogenic
462MECP2NM_004992.3: c.(?_27)_(1029_?)deldeletionPathogenic
463MECP2NM_004992.3: c.(?_27)_(1170_?)deldeletionPathogenic
464MECP2NM_004992.3: c.(?_27)_(1185_?)deldeletionPathogenic
465MECP2NM_004992.3: c.(?_27)_(1337_?)deldeletionPathogenic
466MECP2NM_004992.3: c.(?_27)_(1397_?)deldeletionPathogenic
467MECP2NM_004992.3(MECP2): c.(?_27)_(367_?)del (p.(?))deletionPathogenicGRCh37Chr X, 153297668: 153298008
468MECP2NM_004992.3: c.(?_27)_(378_?)deldeletionPathogenic
469MECP2NM_004992.3(MECP2): c.27-12521_*5072deldeletionPathogenicGRCh37Chr X, 153290746: 153310529
470MECP2NM_004992.3(MECP2): c.27-3928_1184deldeletionPathogenicGRCh37Chr X, 153296095: 153301936
471MECP2NM_004992.3(MECP2): c.27-4722_*112delinsCACTTTGTGindelPathogenicGRCh37Chr X, 153295706: 153302730
472MECP2NM_004992.3(MECP2): c.27-4722_*739delins43indelPathogenicGRCh37Chr X, 153295079: 153302730
473MECP2NM_004992.3(MECP2): c.27-5774_902delinsGTGCCCGGACTGATGTCAindelPathogenicGRCh37Chr X, 153296377: 153303782
474MECP2NM_004992.3(MECP2): c.27-6026_1190delinsGTindelPathogenicGRCh37Chr X, 153296089: 153304034
475MECP2NM_004992.3(MECP2): c.27-6215_1190deldeletionPathogenicGRCh38Chr X, 154030638: 154038772
476MECP2NM_004992.3(MECP2): c.27-96_1205deldeletionPathogenicGRCh37Chr X, 153296074: 153298104
477MECP2NM_001110792.1(MECP2): c.354_357dupGAAG (p.Leu120Glufs)duplicationPathogenicrs786205025GRCh38Chr X, 154032263: 154032266
478MECP2NM_004992.3: c.343_1182deldeletionPathogenic
479MECP2NM_004992.3(MECP2): c.(?_378)_*(1_?)deldeletionPathogenicGRCh37Chr X, 153295817: 153296901
480MECP2NM_004992.3(MECP2): c.(?_378)_(1170_?)del (p.(?))deletionPathogenicGRCh37Chr X, 153296109: 153296901
481MECP2NM_004992.3(MECP2): c.(?_378)_(1185_?)del (p.(?))deletionPathogenicGRCh37Chr X, 153296094: 153296901
482MECP2NM_004992.3(MECP2): c.(?_378)_(1337_?)del (p.(?))deletionPathogenicGRCh37Chr X, 153295942: 153296901
483MECP2NM_001110792.1(MECP2): c.414_1497del1084 (p.Pro139Phefs)deletionPathogenicGRCh37Chr X, 153295818: 153296901
484MECP2NM_004992.3(MECP2): c.382_1189del808 (p.Gln128Argfs)deletionPathogenicGRCh37Chr X, 153296090: 153296897
485MECP2NM_001110792.1(MECP2): c.445_1194del750 (p.Glu149_Leu398del)deletionPathogenicGRCh37Chr X, 153296121: 153296870
486MECP2NM_004992.3(MECP2): c.481_987del507ins8indelPathogenicGRCh37Chr X, 153296292: 153296798
487MECP2NM_004992.3(MECP2): c.488_1189del702 (p.Gly163_Ser396del)deletionPathogenicGRCh37Chr X, 153296090: 153296791
488MECP2NM_004992.3(MECP2): c.502C> A (p.Arg168=)single nucleotide variantPathogenicrs61748421GRCh38Chr X, 154031326: 154031326
489MECP2NM_004992.3(MECP2): c.616_1122del507 (p.Gly206_Glu374del)deletionPathogenicGRCh38Chr X, 154030706: 154031212
490MECP2NM_004992.3(MECP2): c.689_756del68 (p.Pro230Glnfs)deletionPathogenicGRCh37Chr X, 153296523: 153296590
491MECP2NM_004992.3(MECP2): c.711_1269del559 (p.Gly238Trpfs)deletionPathogenicGRCh38Chr X, 154030559: 154031117
492MECP2NM_004992.3(MECP2): c.731_1166del436 (p.Gln244Leufs)deletionPathogenicGRCh37Chr X, 153296113: 153296548
493MECP2NM_004992.3(MECP2): c.763_1383del621ins15 (p.?)indelPathogenicGRCh37Chr X, 153295896: 153296516
494MECP2NM_004992.3(MECP2): c.766A> T (p.Lys256Ter)single nucleotide variantPathogenicrs786205027GRCh37Chr X, 153296513: 153296513
495MECP2NM_004992.3(MECP2): c.767_1175del409 (p.Lys256Serfs)deletionPathogenicGRCh38Chr X, 154030653: 154031061
496MECP2NM_004992.3(MECP2): c.785_818del34 (p.Gln262Argfs)deletionPathogenicrs786205028GRCh38Chr X, 154031010: 154031043
497MECP2NM_004992.3(MECP2): c.820_1153del334ins67 (p.?)indelPathogenicGRCh37Chr X, 153296126: 153296459
498MECP2NM_004992.3(MECP2): c.822_1184del363 (p.Val275_Ser395del)deletionPathogenicGRCh37Chr X, 153296095: 153296457
499MECP2NM_004992.3(MECP2): c.830_831ins23 (p.?)insertionPathogenicrs786205029GRCh37Chr X, 153296448: 153296449
500MECP2NM_004992.3(MECP2): c.834_939del106 (p.Ala279Serfs)deletionPathogenicGRCh38Chr X, 154030889: 154030994
501MECP2NM_004992.3(MECP2): c.849_1236del388 (p.Lys284Alafs)deletionPathogenicGRCh38Chr X, 154030592: 154030979
502MECP2NM_004992.3(MECP2): c.851_1188del338 (p.Lys284Argfs)deletionPathogenicGRCh38Chr X, 154030640: 154030977
503MECP2NM_004992.3(MECP2): c.855_859delGAAAGinsAAAAAAAAGACT (p.Ala287Lysfs)indelPathogenicrs786205030GRCh38Chr X, 154030969: 154030973
504MECP2NM_001110792.1(MECP2): c.903_1259del357insA (p.Ser303Glnfs)indelPathogenicGRCh38Chr X, 154030605: 154030961
505MECP2NM_001110792.1(MECP2): c.905_916delAGTCTTCTATCCinsCACA (p.Glu302Alafs)indelPathogenicrs786205031GRCh37Chr X, 153296399: 153296410
506MECP2NM_001110792.1(MECP2): c.907_1080del174 (p.Ile305_Ser362del)deletionPathogenicGRCh37Chr X, 153296235: 153296408
507MECP2NM_004992.3(MECP2): c.894_1095del202 (p.Glu298Aspfs)deletionPathogenicGRCh37Chr X, 153296184: 153296385
508MECP2NM_004992.3(MECP2): c.898_1099del202 (p.Val300Thrfs)deletionPathogenicGRCh38Chr X, 154030729: 154030930
509MECP2NM_001110792.1(MECP2): c.942_1174del233insAC (p.Ile315_Val392delinsLeu)indelPathogenicGRCh37Chr X, 153296141: 153296373
510MECP2NM_004992.3(MECP2): c.914_1172del259 (p.Lys305Metfs)deletionPathogenicGRCh37Chr X, 153296107: 153296365
511MECP2NM_004992.3(MECP2): c.943_1140del198ins6indelPathogenicGRCh38Chr X, 154030688: 154030885
512MECP2NM_001110792.1(MECP2): c.998_1303del306insG (p.Lys333Serfs)indelPathogenicGRCh38Chr X, 154030561: 154030866
513MECP2NM_004992.3(MECP2): c.-98-?_377+?deldeletionPathogenic
514MECP2NM_004992.3(MECP2): c.994_1346del353 (p.Ser332Valfs)deletionPathogenicGRCh37Chr X, 153295933: 153296285
515MECP2NM_001110792.1(MECP2): c.23_27dupCGCCG (p.Ser10Argfs)duplicationPathogenicrs786205038GRCh38Chr X, 154097639: 154097643
516MECP2NM_001110792.1(MECP2): c.30delCinsGA (p.Ser10Argfs)indelPathogenicrs786205040GRCh38Chr X, 154097636: 154097636
517MECP2NM_001110792.1(MECP2): c.47_57delGCGAGGAGGAG (p.Gly16Glufs)deletionPathogenicrs786205042GRCh38Chr X, 154097609: 154097619
518MECP2NM_001110792.1(MECP2): c.48_55delCGAGGAGG (p.Glu18Thrfs)deletionPathogenicrs786205043GRCh38Chr X, 154097611: 154097618
519MECP2NM_001110792.1(MECP2): c.48_55dupCGAGGAGG (p.Glu19Alafs)duplicationPathogenicrs786205044GRCh37Chr X, 153363068: 153363075
520MECP2NM_001110792.1(MECP2): c.48C> T (p.Gly16=)single nucleotide variantPathogenicrs786205045GRCh38Chr X, 154097618: 154097618
521MECP2NM_001110792.1(MECP2): c.59_60delGA (p.Arg20Thrfs)deletionPathogenicrs786205047GRCh37Chr X, 153363063: 153363064
522MECP2NM_001110792.1(MECP2): c.62+2_62+3delTGdeletionPathogenicrs786205049GRCh37Chr X, 153363058: 153363059
523MECP2NM_001110792.1(MECP2): c.(?_1)_(62_?)del (p.(?))deletionPathogenicGRCh37Chr X, 153363061: 153363122
524MECP2NM_004992.3(MECP2): c.1A> T (p.Met1Leu)single nucleotide variantPathogenicrs786205892GRCh37Chr X, 153357667: 153357667
525MECP2NM_004992.3(MECP2)indelPathogenicGRCh37Chr X, 153295996: 153296116
526MECP2NM_004992.3(MECP2): c.1146_*452del768deletionPathogenicGRCh37Chr X, 153295366: 153296133
527MECP2NM_004992.3(MECP2): c.390delA (p.Ala131Profs)deletionPathogenicrs786205895GRCh37Chr X, 153296889: 153296889
528CDKL5NM_003159.2(CDKL5): c.1891_1916del26 (p.Ile631Glnfs)deletionPathogenicrs794727063GRCh37Chr X, 18622935: 18622960
529CDKL5NM_003159.2(CDKL5): c.1152C> G (p.Tyr384Ter)single nucleotide variantPathogenicrs794727064GRCh37Chr X, 18622196: 18622196
530MECP2NM_001110792.1(MECP2): c.1202dupC (p.Pro402Serfs)duplicationPathogenicrs797044733GRCh37Chr X, 153296113: 153296113
531MECP2NM_004992.3(MECP2): c.689_756del68 (p.Pro230Glnfs)deletionPathogenicGRCh37Chr X, 153296523: 153296590
532MECP2NM_004992.3(MECP2): c.834_939del106 (p.Ala279Serfs)deletionPathogenicGRCh38Chr X, 154030889: 154030994
533MECP2NM_004992.3(MECP2): c.943_1140del198ins6indelPathogenicGRCh38Chr X, 154030688: 154030885
534MECP2NM_004992.3(MECP2): c.763_1383del621ins15 (p.?)indelPathogenicGRCh37Chr X, 153295896: 153296516
535MECP2NM_004992.3(MECP2): c.1276_*113del299ins3indelPathogenicGRCh38Chr X, 154030254: 154030552
536MECP2NM_001110792.1(MECP2): c.1043_1230del188 (p.Leu348Profs)deletionPathogenicGRCh37Chr X, 153296085: 153296272
537MECP2NM_001110792.1(MECP2): c.1193_*116del421deletionPathogenicGRCh37Chr X, 153295702: 153296122
538MECP2NM_001110792.1(MECP2): c.30_31delCG (p.Ser10Argfs)deletionPathogenicrs797045693GRCh38Chr X, 154097635: 154097636
539MECP2NM_001110792.1(MECP2): c.83_93delAGGACCTCCAG (p.Gln28Argfs)deletionPathogenicrs797045694GRCh38Chr X, 154032527: 154032537
540MECP2NM_001110792.1(MECP2): c.701_707dupTCAAGAT (p.Met236Ilefs)duplicationPathogenicrs797045695GRCh37Chr X, 153296608: 153296614
541MECP2NM_001110792.1(MECP2): c.934_1202del269 (p.Val312Serfs)deletionPathogenicGRCh37Chr X, 153296113: 153296381
542MECP2NM_001110792.1: c.384_1164deldeletionPathogenic
543CDKL5NM_003159.2(CDKL5): c.2713+3C> Tsingle nucleotide variantPathogenicGRCh38Chr X, 18628590: 18628590
544CDKL5NM_003159.2(CDKL5): c.353A> G (p.Gln118Arg)single nucleotide variantPathogenicGRCh38Chr X, 18579918: 18579918
545FOXG1FOXG1, 1-BP DUP, 460GduplicationPathogenic
546MECP2NM_004992.3(MECP2): c.1151C> T (p.Pro384Leu)single nucleotide variantLikely pathogenicrs193922676GRCh37Chr X, 153296128: 153296128
547MECP2NM_004992.3(MECP2): c.1327G> A (p.Ala443Thr)single nucleotide variantLikely pathogenicrs193922677GRCh37Chr X, 153295952: 153295952
548MECP2NM_004992.3(MECP2): c.1441G> A (p.Val481Met)single nucleotide variantLikely pathogenicrs193922678GRCh37Chr X, 153295838: 153295838
549MECP2NM_004992.3(MECP2): c.574A> T (p.Lys192Ter)single nucleotide variantLikely pathogenic, Pathogenicrs193922679GRCh37Chr X, 153296705: 153296705
550MECP2NM_004992.3(MECP2): c.898G> A (p.Val300Ile)single nucleotide variantLikely pathogenicrs61751370GRCh37Chr X, 153296381: 153296381
551MECP2NM_004992.3(MECP2): c.909C> G (p.Ile303Met)single nucleotide variantLikely pathogenicrs61751439GRCh37Chr X, 153296370: 153296370
552MECP2NM_004992.3(MECP2): c.932C> T (p.Thr311Met)single nucleotide variantLikely pathogenicrs61751445GRCh37Chr X, 153296347: 153296347
553CDKL5NM_003159.2(CDKL5): c.533G> A (p.Arg178Gln)single nucleotide variantLikely pathogenic, Pathogenicrs267606715GRCh37Chr X, 18602452: 18602452
554MECP2NM_004992.3(MECP2): c.468C> G (p.Asp156Glu)single nucleotide variantPathogenicrs61748408GRCh37Chr X, 153296811: 153296811
555MECP2NM_004992.3(MECP2): c.611C> G (p.Ser204Ter)single nucleotide variantPathogenicrs61749724GRCh37Chr X, 153296668: 153296668
556MECP2NM_004992.3(MECP2): c.730C> T (p.Gln244Ter)single nucleotide variantPathogenicrs61749747GRCh37Chr X, 153296549: 153296549
557MECP2NM_004992.3(MECP2): c.806delG (p.Gly269Alafs)deletionPathogenicrs61750241GRCh37Chr X, 153296473: 153296473

Expression for genes affiliated with Rett Syndrome

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LifeMap Discovery
Genes differentially expressed in tissues of Rett Syndrome patients vs. healthy controls: 32 (show all 47)
id Gene Description Tissue Up/Dn Fold Change (log2) P value
1EPHB2EPH receptor B2Brain+6.860.000
2SLC9A3R1solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 1Brain+5.980.000
3CARTPTCART prepropeptideBrain-5.940.000
4GLRA2glycine receptor, alpha 2Brain+5.440.000
5APOC4apolipoprotein C-IVBrain-5.140.039
6FLOT2flotillin 2Brain+5.090.017
7GRIN2Cglutamate receptor, ionotropic, N-methyl D-aspartate 2CBrain+5.020.012
8ACVR2Bactivin A receptor, type IIBBrain+4.940.000
9ASMTacetylserotonin O-methyltransferaseBrain+4.780.000
10DCTN5dynactin 5 (p25)Brain+4.720.000
11F2RL1coagulation factor II (thrombin) receptor-like 1Brain-4.690.004
12INHBBinhibin, beta BBrain+4.590.028
13FOLR1folate receptor 1 (adult)Brain-4.590.006
14NPRL3NPR3-like, GATOR1 complex subunitBrain+4.450.044
15CCDC106coiled-coil domain containing 106Brain-4.430.047
16S100A1S100 calcium binding protein A1Brain+4.300.045
17CCScopper chaperone for superoxide dismutaseBrain+4.290.027
18MKL1megakaryoblastic leukemia (translocation) 1Brain+4.190.012
19ASB4ankyrin repeat and SOCS box containing 4Brain+4.150.012
20CHRNB2cholinergic receptor, nicotinic, beta 2 (neuronal)Brain+4.080.049
21SOX11SRY (sex determining region Y)-box 11Brain+3.980.000
22KIFC3kinesin family member C3Brain+3.910.017
23APBA3amyloid beta (A4) precursor protein-binding, family A, member 3Brain-3.870.012
24CCHCR1coiled-coil alpha-helical rod protein 1Brain+3.830.026
25ITGA9integrin, alpha 9Brain+3.820.036
26MYL5myosin, light chain 5, regulatoryBrain+3.740.000
27KCNMA1potassium channel, calcium activated large conductance subfamily M alpha, member 1Brain+3.690.028
28SFTPBsurfactant protein BBrain-3.480.003
29XPNPEP1X-prolyl aminopeptidase (aminopeptidase P) 1, solubleBrain+3.480.044
30HNRNPFheterogeneous nuclear ribonucleoprotein FBrain+3.470.010
31PPP1R3Cprotein phosphatase 1, regulatory subunit 3CBrain+3.450.008
32TBX1T-box 1Brain+3.410.008
33MYCLv-myc avian myelocytomatosis viral oncogene lung carcinoma derived homologBrain+3.390.007
34TRADDTNFRSF1A-associated via death domainBrain+3.360.010
35NFATC1nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1Brain-3.330.019
36PANX1pannexin 1Brain+3.300.019
37ENOSF1enolase superfamily member 1Brain+3.290.024
38MT4metallothionein 4Brain-3.200.001
39FEZ2fasciculation and elongation protein zeta 2 (zygin II)Brain+3.170.001
40IFNA5interferon, alpha 5Brain+3.160.006
41CEP57centrosomal protein 57kDaBrain+3.130.029
42ZG16zymogen granule protein 16Brain+3.120.045
43ADAM10ADAM metallopeptidase domain 10Brain+3.090.039
44ATP7BATPase, Cu++ transporting, beta polypeptideBrain+3.090.046
45ESR1estrogen receptor 1Brain+3.070.017
46ZKSCAN8zinc finger with KRAB and SCAN domains 8Brain-3.070.006
47EGFRepidermal growth factor receptorBrain+3.030.030

Search GEO for disease gene expression data for Rett Syndrome.

Pathways for genes affiliated with Rett Syndrome

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Pathways related to Rett Syndrome according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.2CHAT, TH
210.0MBD4, TCF4, UBE3A
39.8MAP2, MECP2, SYN1, TH
49.7BDNF, CHAT, MAP2, MECP2, TH

GO Terms for genes affiliated with Rett Syndrome

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

idNameGO IDScoreTop Affiliating Genes
1anchored component of plasma membraneGO:004665810.5NTNG1, NTNG2
2terminal boutonGO:004319510.2BDNF, SYN1, TH
3synaptic vesicleGO:000802110.0BDNF, SYN1, TH
4smooth endoplasmic reticulumGO:00057909.8MAP2, TH
5dendriteGO:00304259.7BDNF, MAP2, SYN1, TH

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1head developmentGO:006032210.6DLX5, DLX6
2anatomical structure formation involved in morphogenesisGO:004864610.5DLX5, DLX6
3neurotransmitter biosynthetic processGO:004213610.2CHAT, TH
4dendrite developmentGO:001635810.2BDNF, MAP2, MECP2
5positive regulation of dendrite morphogenesisGO:005077510.2CDKL5, VAMP7
6axonogenesisGO:000740910.0DLX5, MAP2, NTNG1, NTNG2
7response to estradiolGO:003235510.0MAP2, MBD4, TH
8learningGO:000761210.0BDNF, MECP2, TH

Sources for Rett Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet