MECP2 (methyl-CpG binding protein 2) - Rat Genome Database

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Gene: MECP2 (methyl-CpG binding protein 2) Homo sapiens
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Symbol: MECP2
Name: methyl-CpG binding protein 2
RGD ID: 1349232
HGNC Page HGNC:6990
Description: Enables double-stranded methylated DNA binding activity; molecular condensate scaffold activity; and transcription corepressor activity. Involved in several processes, including negative regulation of macromolecule biosynthetic process; positive regulation of DNA methylation; and positive regulation of microtubule nucleation. Acts upstream of or within genomic imprinting. Located in centrosome and nucleoplasm. Part of heterochromatin. Implicated in Rett syndrome; autistic disorder; gastrointestinal system disease; severe congenital encephalopathy due to MECP2 mutation; and syndromic X-linked intellectual disability (multiple).
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: AUTSX3; DKFZp686A24160; meCp-2 protein; mental retardation, X-linked 16; mental retardation, X-linked 79; methyl CpG binding protein 2; methyl-CpG-binding protein 2; MRX16; MRX79; MRXS13; MRXSL; mutant methyl CpG binding protein 2; mutant methyl CpG binding protein 2 transcript 1; mutant methyl CpG binding protein 2 variant 1; PPMX; RS; RTS; RTT; testis tissue sperm-binding protein Li 41a
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X154,021,573 - 154,097,717 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblX154,021,573 - 154,137,103 (-)EnsemblGRCh38hg38GRCh38
GRCh37X153,287,024 - 153,363,174 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X152,940,458 - 153,016,323 (-)NCBINCBI36Build 36hg18NCBI36
Build 34X152,808,110 - 152,883,976NCBI
CeleraX153,520,969 - 153,596,868 (-)NCBICelera
Cytogenetic MapXq28NCBI
HuRefX141,928,231 - 142,007,659 (-)NCBIHuRef
CHM1_1X153,161,670 - 153,237,718 (-)NCBICHM1_1
T2T-CHM13v2.0X152,295,254 - 152,371,375 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
adrenoleukodystrophy  (IAGP)
Angelman syndrome  (IAGP)
Animal Disease Models  (EXP)
anxiety disorder  (EXP)
attention deficit hyperactivity disorder  (IAGP)
autism spectrum disorder  (IAGP)
autistic disorder  (EXP,IAGP)
Barth syndrome  (IAGP)
cerebral creatine deficiency syndrome 1  (IAGP)
Cocaine-Related Disorders  (EXP,ISO)
Craniofacial Abnormalities  (EXP)
Developmental Disabilities  (EXP,IAGP)
Developmental Disease  (IAGP)
dyskeratosis congenita  (IAGP)
Emery-Dreifuss muscular dystrophy  (IAGP)
epilepsy  (EXP,IAGP)
Facial Hypertrichosis  (IAGP)
favism  (IAGP)
fetal alcohol spectrum disorder  (ISO)
Fetal Growth Retardation  (ISO)
focal epilepsy  (IAGP)
frontometaphyseal dysplasia  (IAGP)
gastrointestinal system disease  (IAGP)
Generalized Epilepsy  (IAGP)
genetic disease  (IAGP)
Hearing Loss  (IAGP)
hepatocellular carcinoma  (EXP,ISO)
Hyperalgesia  (EXP)
immunodeficiency 33  (IAGP)
intellectual disability  (EXP,IAGP)
Juberg Hayward Syndrome  (IAGP)
learning disability  (EXP)
Melnick-Needles syndrome  (IAGP)
methylmalonic acidemia and homocysteinemia cblX type  (IAGP)
microcephaly  (IAGP)
Micrognathism  (IAGP)
Muscle Hypotonia  (EXP)
Myoclonus  (EXP)
Nervous System Malformations  (IAGP)
Neurodevelopmental Disorders  (EXP,IAGP)
non-syndromic X-linked intellectual disability  (IAGP)
otopalatodigital syndrome type 2  (IAGP)
paraplegia  (IAGP)
periventricular nodular heterotopia  (IAGP)
Periventricular Nodular Heterotopia 4  (IAGP)
pervasive developmental disorder  (EXP)
Psychomotor Disorders  (EXP)
pulmonary fibrosis  (EXP)
respiratory failure  (EXP)
Rett syndrome  (EXP,IAGP,ISO,ISS)
Rett Syndrome, Atypical  (IAGP)
Rett Syndrome, Zappella Variant  (IAGP)
schizophrenia  (IAGP)
severe congenital encephalopathy due to MECP2 mutation  (EXP,IAGP)
Smith-Magenis syndrome  (IAGP)
Splenomegaly  (IAGP)
stereotypic movement disorder  (IAGP)
syndromic X-linked intellectual disability Lubs type  (EXP,IAGP)
transient cerebral ischemia  (ISO)
visual epilepsy  (ISO)
X-Linked Intellectual Developmental Disorders  (IAGP)
X-linked intellectual disability-psychosis-macroorchidism syndrome  (EXP,IAGP)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (EXP)
4-hydroxyphenyl retinamide  (ISO)
4-phenylbutyric acid  (EXP)
5-aza-2'-deoxycytidine  (EXP,ISO)
5-azacytidine  (EXP)
6-propyl-2-thiouracil  (ISO)
acrolein  (EXP)
aflatoxin B1  (EXP,ISO)
Aflatoxin B2 alpha  (EXP)
alpha-pinene  (EXP)
amitrole  (ISO)
ammonium chloride  (ISO)
aristolochic acid A  (EXP)
arsenous acid  (ISO)
atrazine  (ISO)
benzene  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[e]pyrene  (EXP)
beta-naphthoflavone  (ISO)
bicuculline  (ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
bleomycin A2  (ISO)
butanal  (EXP)
C60 fullerene  (ISO)
carbon nanotube  (ISO)
CGP 52608  (EXP)
cocaine  (EXP,ISO)
copper(II) sulfate  (EXP)
coumarin  (EXP)
curcumin  (EXP)
diarsenic trioxide  (ISO)
dichlorine  (ISO)
dicrotophos  (EXP)
dorsomorphin  (EXP)
doxorubicin  (EXP)
enzyme inhibitor  (EXP)
epoxiconazole  (ISO)
ethanol  (ISO)
flavonoids  (ISO)
fluoxetine  (ISO)
formaldehyde  (ISO)
FR900359  (EXP)
genistein  (EXP)
gentamycin  (ISO)
guggulsterone  (EXP)
homocysteine  (EXP)
L-methionine  (ISO)
lead diacetate  (ISO)
lead(0)  (EXP,ISO)
melittin  (EXP)
Mesaconitine  (ISO)
methapyrilene  (EXP)
methimazole  (ISO)
methylmercury chloride  (ISO)
mitomycin C  (ISO)
N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal  (ISO)
N-ethyl-N-nitrosourea  (ISO)
N-nitrosodiethylamine  (ISO)
ozone  (EXP,ISO)
paracetamol  (ISO)
paraquat  (ISO)
permethrin  (ISO)
phenobarbital  (ISO)
potassium chloride  (ISO)
resveratrol  (EXP)
SB 431542  (EXP)
sodium arsenate  (ISO)
sodium arsenite  (EXP,ISO)
succimer  (ISO)
sulfadimethoxine  (ISO)
tert-butyl hydroperoxide  (EXP)
testosterone  (ISO)
tetrachloromethane  (ISO)
trichostatin A  (EXP)
triclosan  (EXP)
tungsten  (ISO)
valproic acid  (EXP,ISO)
withaferin A  (EXP)
zebularine  (EXP)
zolpidem  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
adult locomotory behavior  (IEA,ISO)
associative learning  (IEA)
behavioral fear response  (IEA,ISO)
biogenic amine metabolic process  (IEA,ISO)
brain development  (IEA,ISO)
cardiolipin metabolic process  (IEA,ISO)
catecholamine secretion  (IEA,ISO)
cell population proliferation  (IEA,ISO)
cellular response to isoquinoline alkaloid  (IEA,ISO)
cellular response to potassium ion  (IEA,ISO)
cerebellum development  (IEA,ISO)
cerebral cortex development  (IEA,ISO)
chemical synaptic transmission  (IEA,ISO)
dendrite development  (IEA,ISO)
epigenetic regulation of gene expression  (IEA,ISO)
excitatory postsynaptic potential  (IEA,ISO)
gene expression  (IEA)
genomic imprinting  (IEA,IMP)
glial cell proliferation  (IEA,ISO)
glucocorticoid metabolic process  (IEA,ISO)
glutamine metabolic process  (IEA,ISO)
heterochromatin formation  (IEA,ISO)
hippocampus development  (IEA,ISO)
inositol metabolic process  (IEA,ISO)
learning  (IEA,ISO)
long-term memory  (IEA,ISO)
long-term synaptic potentiation  (IEA,ISO)
lung alveolus development  (IEA,ISO)
memory  (IEA,ISO)
multicellular organismal response to stress  (IEA,ISO)
negative regulation of angiogenesis  (IMP)
negative regulation of astrocyte differentiation  (IEA,ISO)
negative regulation of blood vessel endothelial cell migration  (IDA)
negative regulation of dendrite extension  (IEA,ISO)
negative regulation of dendritic spine development  (IEA,ISO)
negative regulation of DNA-templated transcription  (IDA,IEA,ISO)
negative regulation of gene expression  (IDA,IEA,ISO)
negative regulation of gene expression via chromosomal CpG dinucleotide methylation  (IDA)
negative regulation of locomotion involved in locomotory behavior  (IEA,ISO)
negative regulation of neuron apoptotic process  (IEA,ISO)
negative regulation of primary miRNA processing  (IEA,ISO)
negative regulation of protein binding  (ISO)
negative regulation of respiratory gaseous exchange  (IEA,ISO)
negative regulation of smooth muscle cell differentiation  (IEA)
negative regulation of transcription by RNA polymerase II  (IBA,IEA,ISO,TAS)
nervous system process involved in regulation of systemic arterial blood pressure  (IEA,ISO)
neuromuscular process  (IEA,ISO)
neuromuscular process controlling posture  (IEA,ISO)
neuron differentiation  (IEA,ISO)
neuron maturation  (IEA,ISO)
neuron projection development  (IEA,ISO)
Notch signaling pathway  (IEA)
olfactory bulb development  (IEA,ISO)
oligodendrocyte development  (IEA,ISO)
oligodendrocyte differentiation  (IEA,ISO)
phosphatidylcholine metabolic process  (IEA,ISO)
positive regulation of anterograde dense core granule transport  (IEA,ISO)
positive regulation of branching morphogenesis of a nerve  (IEA,ISO)
positive regulation of dendrite extension  (IEA,ISO)
positive regulation of dendritic spine development  (IEA,ISO)
positive regulation of DNA-templated transcription  (IEA,ISO)
positive regulation of gene expression  (IEA,ISO)
positive regulation of glial cell proliferation  (IEA,ISO)
positive regulation of microtubule nucleation  (IMP)
positive regulation of retrograde dense core granule transport  (IEA,ISO)
positive regulation of synaptic plasticity  (IEA,ISO)
positive regulation of transcription by RNA polymerase II  (IEA,ISO)
post-embryonic development  (IEA,ISO)
principal sensory nucleus of trigeminal nerve development  (IEA,ISO)
proprioception  (IEA,ISO)
protein localization  (IEA,ISO)
regulation of action potential firing threshold  (IEA,ISO)
regulation of gene expression  (IEA,ISO)
regulation of respiratory gaseous exchange by nervous system process  (IEA,ISO)
regulation of synapse organization  (IEA)
regulation of synaptic plasticity  (IEA,ISO)
regulation of transcription by RNA polymerase II  (IEA,ISO)
respiratory gaseous exchange by respiratory system  (IEA,ISO)
response to alcohol  (ISO)
response to cocaine  (IEA,ISO)
response to estradiol  (IEA,ISO)
response to hypoxia  (IEA,ISO)
response to ionizing radiation  (IEA,ISO)
response to lead ion  (IEA,ISO)
response to organic cyclic compound  (IEA,ISO)
response to other organism  (IEA,ISO)
sensory perception of pain  (IEA,ISO)
social behavior  (IEA,ISO)
spinal cord development  (IEA,ISO)
startle response  (IEA,ISO)
striatum development  (IEA,ISO)
synapse assembly  (IEA,ISO)
thalamus development  (IEA,ISO)
trans-synaptic signaling by BDNF  (IEA,ISO)
triglyceride metabolic process  (ISO)
ventricular cardiac muscle tissue development  (IEA,ISO)
ventricular system development  (IEA,ISO)
visual learning  (IEA,ISO)

Cellular Component
centrosome  (IMP)
chromatin  (IEA,ISO)
cytoplasm  (IEA)
cytosol  (IEA)
extracellular space  (HDA)
glutamatergic synapse  (IEA,ISO)
heterochromatin  (IBA,IDA,IEA)
nucleoplasm  (IDA,TAS)
nucleus  (IBA,IDA,IEA,TAS)
postsynapse  (IEA)
protein-containing complex  (IEA,ISO)

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
2-3 toe cutaneous syndactyly  (IAGP)
Abnormal aggressive, impulsive or violent behavior  (IAGP)
Abnormal autonomic nervous system physiology  (IAGP)
Abnormal CSF pyruvate family amino acid concentration  (IAGP)
Abnormal fear-induced behavior  (IAGP)
Abnormal muscle tone  (IAGP)
Abnormal nonverbal communicative behavior  (IAGP)
Abnormal pattern of respiration  (IAGP)
Abnormal pigmentation of the oral mucosa  (IAGP)
Abnormal repetitive mannerisms  (IAGP)
Abnormal T-wave  (IAGP)
Abnormality of chromosome segregation  (IAGP)
Abnormality of metabolism/homeostasis  (IAGP)
Abnormality of movement  (IAGP)
Abnormality of salivation  (IAGP)
Abnormality of speech or vocalization  (IAGP)
Abnormality of the dentition  (IAGP)
Abnormality of the nervous system  (IAGP)
Absent speech  (IAGP)
Aggressive behavior  (IAGP)
Agitation  (IAGP)
Alopecia  (IAGP)
Anorexia  (IAGP)
Anteverted nares  (IAGP)
Anti-La/SS-B antibody positivity  (IAGP)
Anti-Sm antibody positivity  (IAGP)
Anti-U1 ribonucleoprotein antibody positivity  (IAGP)
Antineutrophil antibody positivity  (IAGP)
Antinuclear antibody positivity  (IAGP)
Anxiety  (IAGP)
Apnea  (IAGP)
Apraxia  (IAGP)
Arthritis  (IAGP)
Ataxia  (IAGP)
Attention deficit hyperactivity disorder  (IAGP)
Atypical behavior  (IAGP)
Autism  (IAGP)
Autistic behavior  (IAGP)
Axial hypotonia  (IAGP)
Babinski sign  (IAGP)
Bilateral tonic-clonic seizure  (IAGP)
Bipolar affective disorder  (IAGP)
Blepharophimosis  (IAGP)
Brachycephaly  (IAGP)
Bradykinesia  (IAGP)
Broad-based gait  (IAGP)
Bruxism  (IAGP)
Cachexia  (IAGP)
Central hypoventilation  (IAGP)
Cerebral atrophy  (IAGP)
Cerebral cortical atrophy  (IAGP)
Cheilitis  (IAGP)
Childhood onset  (IAGP)
Cholecystitis  (IAGP)
Chorea  (IAGP)
Choreoathetosis  (IAGP)
Chronic constipation  (IAGP)
Clinodactyly of the 5th finger  (IAGP)
Coldness  (IAGP)
Congenital onset  (IAGP)
Congestive heart failure  (IAGP)
Constipation  (IAGP)
Cryptorchidism  (IAGP)
Cutaneous photosensitivity  (IAGP)
Decreased body weight  (IAGP)
Decreased circulating antibody level  (IAGP)
Decreased circulating complement C3 concentration  (IAGP)
Decreased circulating complement C4 concentration  (IAGP)
Delayed ability to roll over  (IAGP)
Delayed ability to sit  (IAGP)
Delayed ability to walk  (IAGP)
Delayed gross motor development  (IAGP)
Delayed skeletal maturation  (IAGP)
Delayed speech and language development  (IAGP)
Depressed nasal bridge  (IAGP)
Depression  (IAGP)
Developmental regression  (IAGP)
Developmental stagnation  (IAGP)
Difficulty walking  (IAGP)
Discoid lupus rash  (IAGP)
Disturbance of facial expression  (IAGP)
Downslanted palpebral fissures  (IAGP)
Drooling  (IAGP)
Dysphagia  (IAGP)
Dystonia  (IAGP)
EEG abnormality  (IAGP)
EEG with focal slow activity  (IAGP)
EEG with generalized slow activity  (IAGP)
Emotional lability  (IAGP)
Encephalopathy  (IAGP)
Epicanthus  (IAGP)
Epileptic encephalopathy  (IAGP)
Episodic tachypnea  (IAGP)
Everted lower lip vermilion  (IAGP)
Excessive salivation  (IAGP)
Facial hypertrichosis  (IAGP)
Facial hypotonia  (IAGP)
Failure to thrive  (IAGP)
Fatigue  (IAGP)
Feeding difficulties  (IAGP)
Feeding difficulties in infancy  (IAGP)
Fever  (IAGP)
Flexion contracture  (IAGP)
Focal EEG discharges with secondary generalization  (IAGP)
Functional abnormality of the gastrointestinal tract  (IAGP)
Functional motor deficit  (IAGP)
Gait apraxia  (IAGP)
Gait ataxia  (IAGP)
Gait disturbance  (IAGP)
Gastroesophageal reflux  (IAGP)
Gastrostomy tube feeding in infancy  (IAGP)
Generalized myoclonic seizure  (IAGP)
Generalized neonatal hypotonia  (IAGP)
Generalized non-motor (absence) seizure  (IAGP)
Global developmental delay  (IAGP)
Growth delay  (IAGP)
Gynecomastia  (IAGP)
Hand apraxia  (IAGP)
Hearing impairment  (IAGP)
Hematuria  (IAGP)
Hemolytic anemia  (IAGP)
Hernia of the abdominal wall  (IAGP)
High palate  (IAGP)
High-pitched cry  (IAGP)
Hostility  (IAGP)
Hyperactive deep tendon reflexes  (IAGP)
Hyperactivity  (IAGP)
Hyperammonemia  (IAGP)
Hyperreflexia  (IAGP)
Hypertension  (IAGP)
Hypospadias  (IAGP)
Hypotonia  (IAGP)
Impaired pain sensation  (IAGP)
Inability to walk  (IAGP)
Inappropriate crying  (IAGP)
Inappropriate laughter  (IAGP)
Increased circulating lactate concentration  (IAGP)
Increased CSF lactate  (IAGP)
Increased serum leptin  (IAGP)
Increased serum pyruvate  (IAGP)
Increased serum serotonin  (IAGP)
Infantile muscular hypotonia  (IAGP)
Infantile onset  (IAGP)
Infantile spasms  (IAGP)
Inflexible adherence to routines  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, mild  (IAGP)
Intellectual disability, moderate  (IAGP)
Intellectual disability, profound  (IAGP)
Intellectual disability, progressive  (IAGP)
Intellectual disability, severe  (IAGP)
Intermittent hyperventilation  (IAGP)
Involuntary movements  (IAGP)
Irregular respiration  (IAGP)
Irritability  (IAGP)
Joint stiffness  (IAGP)
Juvenile cataract  (IAGP)
Kyphoscoliosis  (IAGP)
Kyphosis  (IAGP)
Lack of peer relationships  (IAGP)
Lack of spontaneous play  (IAGP)
Language impairment  (IAGP)
Leukopenia  (IAGP)
Limb apraxia  (IAGP)
Limb myoclonus  (IAGP)
Loss of ambulation  (IAGP)
Loss of speech  (IAGP)
Low-set ears  (IAGP)
Lower limb hyperreflexia  (IAGP)
Lower limb spasticity  (IAGP)
Lupus nephritis  (IAGP)
Lymphadenopathy  (IAGP)
Macrocephaly  (IAGP)
Macroorchidism  (IAGP)
Macrotia  (IAGP)
Malaise  (IAGP)
Malar flattening  (IAGP)
Malar rash  (IAGP)
Male hypogonadism  (IAGP)
Microcephaly  (IAGP)
Micrognathia  (IAGP)
Midface retrusion  (IAGP)
Motor delay  (IAGP)
Motor deterioration  (IAGP)
Multifocal epileptiform discharges  (IAGP)
Mutism  (IAGP)
Myoclonus  (IAGP)
Narrow mouth  (IAGP)
Neonatal hypotonia  (IAGP)
Neonatal seizure  (IAGP)
Neurodevelopmental delay  (IAGP)
Obesity  (IAGP)
obsolete Impaired social interactions  (IAGP)
Oral ulcer  (IAGP)
Pain insensitivity  (IAGP)
Panic attack  (IAGP)
Parkinsonism  (IAGP)
Pectus excavatum  (IAGP)
Persistent head lag  (IAGP)
Pes cavus  (IAGP)
Pill-rolling tremor  (IAGP)
Polymicrogyria  (IAGP)
Poor suck  (IAGP)
Postnatal growth retardation  (IAGP)
Primary microcephaly  (IAGP)
Progressive  (IAGP)
Progressive language deterioration  (IAGP)
Progressive microcephaly  (IAGP)
Progressive spasticity  (IAGP)
Prolonged QTc interval  (IAGP)
Prominent nasal bridge  (IAGP)
Proteinuria  (IAGP)
Psychosis  (IAGP)
Ptosis  (IAGP)
Pyuria  (IAGP)
Raynaud phenomenon  (IAGP)
Recurrent infections  (IAGP)
Recurrent respiratory infections  (IAGP)
Reduced eye contact  (IAGP)
Reduced social reciprocity  (IAGP)
Repetitive compulsive behavior  (IAGP)
Respiratory insufficiency  (IAGP)
Resting tremor  (IAGP)
Restlessness  (IAGP)
Restrictive behavior  (IAGP)
Retinopathy  (IAGP)
Rigidity  (IAGP)
Schizophrenia  (IAGP)
Scoliosis  (IAGP)
Secondary microcephaly  (IAGP)
Seizure  (IAGP)
Serositis  (IAGP)
Severe global developmental delay  (IAGP)
Severe infection  (IAGP)
Short foot  (IAGP)
Short neck  (IAGP)
Short stature  (IAGP)
Shuffling gait  (IAGP)
Skeletal muscle atrophy  (IAGP)
Sleep abnormality  (IAGP)
Slowly progressive  (IAGP)
Small hand  (IAGP)
Spastic gait  (IAGP)
Spastic paraplegia  (IAGP)
Spastic tetraplegia  (IAGP)
Spasticity  (IAGP)
Splenomegaly  (IAGP)
Status epilepticus  (IAGP)
Stenosis of the external auditory canal  (IAGP)
Stereotypical hand wringing  (IAGP)
Stooped posture  (IAGP)
Stroke  (IAGP)
Sudden episodic apnea  (IAGP)
Tented upper lip vermilion  (IAGP)
Thrombocytopenia  (IAGP)
Tongue thrusting  (IAGP)
Tonic seizure  (IAGP)
Total ophthalmoplegia  (IAGP)
Tremor  (IAGP)
Truncal ataxia  (IAGP)
Upslanted palpebral fissure  (IAGP)
Weight loss  (IAGP)
Wide nasal bridge  (IAGP)
Widely spaced teeth  (IAGP)
Wrist flexion contracture  (IAGP)
X-linked dominant inheritance  (IAGP)
X-linked inheritance  (IAGP)
X-linked recessive inheritance  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients. Archer HL, etal., J Med Genet. 2006 May;43(5):451-6. Epub 2005 Sep 23.
2. A detailed analysis of the MECP2 gene: prevalence of recurrent mutations and gross DNA rearrangements in Rett syndrome patients. Bourdon V, etal., Hum Genet. 2001 Jan;108(1):43-50.
3. On how mammalian transcription factors recognize methylated DNA. Buck-Koehntop BA and Defossez PA, Epigenetics. 2013 Feb;8(2):131-7. doi: 10.4161/epi.23632. Epub 2013 Jan 16.
4. MECP2 is highly mutated in X-linked mental retardation. Couvert P, etal., Hum Mol Genet. 2001 Apr 15;10(9):941-6.
5. A comparison of molecular alterations in environmental and genetic rat models of ADHD: a pilot study. DasBanerjee T, etal., Am J Med Genet B Neuropsychiatr Genet. 2008 Dec 5;147B(8):1554-63.
6. Kindling induces the mRNA expression of methyl DNA-binding factors in the adult rat hippocampus. Francis J, etal., Neuroscience. 2002;113(1):79-87.
7. Fetal Alcohol Exposure Reduces Dopamine Receptor D2 and Increases Pituitary Weight and Prolactin Production via Epigenetic Mechanisms. Gangisetty O, etal., PLoS One. 2015 Oct 28;10(10):e0140699. doi: 10.1371/journal.pone.0140699. eCollection 2015.
8. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
9. A mouse Mecp2-null mutation causes neurological symptoms that mimic Rett syndrome. Guy J, etal., Nat Genet. 2001 Mar;27(3):322-6.
10. MeCP2 controls BDNF expression and cocaine intake through homeostatic interactions with microRNA-212. Im HI, etal., Nat Neurosci. 2010 Sep;13(9):1120-7. doi: 10.1038/nn.2615. Epub 2010 Aug 15.
11. RNAi-induced down-regulation of Mecp2 expression in the rat brain. Jin J, etal., Int J Dev Neurosci. 2008 Aug;26(5):457-65. doi: 10.1016/j.ijdevneu.2008.02.009. Epub 2008 Mar 4.
12. Transient forebrain ischemia alters the mRNA expression of methyl DNA-binding factors in the adult rat hippocampus. Jung BP, etal., Neuroscience. 2002;115(2):515-24.
13. Uteroplacental insufficiency affects epigenetic determinants of chromatin structure in brains of neonatal and juvenile IUGR rats. Ke X, etal., Physiol Genomics. 2006 Mar 13;25(1):16-28. Epub 2005 Dec 27.
14. Purification, sequence, and cellular localization of a novel chromosomal protein that binds to methylated DNA. Lewis JD, etal., Cell 1992 Jun 12;69(6):905-14.
15. Role of de novo DNA methyltransferases and methyl CpG-binding proteins in gene silencing in a rat hepatoma. Majumder S, etal., J Biol Chem. 2002 May 3;277(18):16048-58. Epub 2002 Feb 13.
16. Gastrointestinal and nutritional problems occur frequently throughout life in girls and women with Rett syndrome. Motil KJ, etal., J Pediatr Gastroenterol Nutr. 2012 Sep;55(3):292-8. doi: 10.1097/MPG.0b013e31824b6159.
17. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
18. MeCP2 deficiency results in robust Rett-like behavioural and motor deficits in male and female rats. Patterson KC, etal., Hum Mol Genet. 2016 Dec 15;25(24):5514-5515. doi: 10.1093/hmg/ddw435.
19. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
20. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
21. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
22. MECP2 structural and 3'-UTR variants in schizophrenia, autism and other psychiatric diseases: a possible association with autism. Shibayama A, etal., Am J Med Genet B Neuropsychiatr Genet. 2004 Jul 1;128B(1):50-3.
23. Characterization of Rett Syndrome-like phenotypes in Mecp2-knockout rats. Wu Y, etal., J Neurodev Disord. 2016 Jun 16;8:23. doi: 10.1186/s11689-016-9156-7. eCollection 2016.
Additional References at PubMed
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Genomics

Comparative Map Data
MECP2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X154,021,573 - 154,097,717 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblX154,021,573 - 154,137,103 (-)EnsemblGRCh38hg38GRCh38
GRCh37X153,287,024 - 153,363,174 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X152,940,458 - 153,016,323 (-)NCBINCBI36Build 36hg18NCBI36
Build 34X152,808,110 - 152,883,976NCBI
CeleraX153,520,969 - 153,596,868 (-)NCBICelera
Cytogenetic MapXq28NCBI
HuRefX141,928,231 - 142,007,659 (-)NCBIHuRef
CHM1_1X153,161,670 - 153,237,718 (-)NCBICHM1_1
T2T-CHM13v2.0X152,295,254 - 152,371,375 (-)NCBIT2T-CHM13v2.0
Mecp2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X73,070,198 - 73,129,296 (-)NCBIGRCm39GRCm39mm39
GRCm39 EnsemblX73,070,198 - 73,129,296 (-)EnsemblGRCm39 Ensembl
GRCm38X74,026,592 - 74,085,690 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX74,026,592 - 74,135,363 (-)EnsemblGRCm38mm10GRCm38
MGSCv37X71,272,160 - 71,330,975 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36X70,279,550 - 70,338,313 (-)NCBIMGSCv36mm8
CeleraX65,279,211 - 65,338,021 (-)NCBICelera
Cytogenetic MapXA7.3NCBI
cM MapX37.63NCBI
Mecp2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8X156,932,481 - 156,995,981 (-)NCBIGRCr8
mRatBN7.2X151,781,177 - 151,844,687 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 EnsemblX151,789,930 - 151,844,689 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_UtxX153,931,091 - 153,985,757 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0X157,494,308 - 157,548,973 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0X155,166,123 - 155,220,783 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0X156,650,389 - 156,713,813 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 EnsemblX156,655,960 - 156,705,233 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01152,390,961 - 152,461,647 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X159,980,599 - 160,035,260 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1X160,055,071 - 160,104,134 (-)NCBI
Celera1136,055,782 - 136,105,104 (+)NCBICelera
Cytogenetic MapXq37NCBI
Mecp2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955580679,109 - 735,288 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955580674,014 - 737,586 (-)NCBIChiLan1.0ChiLan1.0
MECP2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2X154,061,838 - 154,137,177 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1X154,065,444 - 154,140,771 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0X143,571,864 - 143,647,192 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1X153,458,248 - 153,527,854 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX153,465,204 - 153,527,854 (-)Ensemblpanpan1.1panPan2
MECP2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X121,866,721 - 121,876,088 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX121,873,218 - 121,932,994 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX107,201,895 - 107,204,829 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0X125,014,436 - 125,017,609 (-)NCBIROS_Cfam_1.0
UMICH_Zoey_3.1X120,783,667 - 120,786,824 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0X123,299,346 - 123,302,280 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0X123,060,405 - 123,063,561 (-)NCBIUU_Cfam_GSD_1.0
Mecp2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X119,165,167 - 119,228,780 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936809911,764 - 966,839 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936809902,938 - 967,771 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MECP2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX124,735,656 - 124,738,659 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X124,735,523 - 124,789,063 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X142,295,001 - 142,349,438 (-)NCBISscrofa10.2Sscrofa10.2susScr3
MECP2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X128,445,028 - 128,519,892 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 EnsemblX128,453,577 - 128,455,785 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366606566,318,831 - 66,395,535 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Mecp2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624946628,284 - 685,246 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624946620,581 - 685,339 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in MECP2
960 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 copy number gain See cases [RCV000133911] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|likely pathogenic|conflicting data from submitters
NM_001110792.2(MECP2):c.138del (p.Asp46fs) deletion not provided [RCV000519737] ChrX:154032482 [GRCh38]
ChrX:153297933 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.627G>C (p.Thr209=) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV001443966] ChrX:154031237 [GRCh38]
ChrX:153296688 [GRCh37]
ChrX:Xq28
likely benign
NM_001110792.2(MECP2):c.1216_1233del (p.Glu406_Pro411del) deletion Severe neonatal-onset encephalopathy with microcephaly [RCV002528413] ChrX:154030631..154030648 [GRCh38]
ChrX:153296082..153296099 [GRCh37]
ChrX:Xq28
likely benign
NM_004992.4(MECP2):c.26+2T>A single nucleotide variant Rett syndrome [RCV000170166]|not provided [RCV000144092] ChrX:154092182 [GRCh38]
ChrX:153357640 [GRCh37]
ChrX:Xq28
pathogenic|uncertain significance|no classifications from unflagged records|not provided
NM_001110792.2(MECP2):c.63-2A>G single nucleotide variant Rett syndrome [RCV000170180]|Severe neonatal-onset encephalopathy with microcephaly [RCV002514773]|not provided [RCV000144093] ChrX:154032559 [GRCh38]
ChrX:153298010 [GRCh37]
ChrX:Xq28
pathogenic|no classifications from unflagged records|not provided
NM_001110792.2(MECP2):c.63-55G>A single nucleotide variant Autism, susceptibility to, X-linked 3 [RCV000170264]|Rett syndrome [RCV003389409]|not provided [RCV000144094] ChrX:154032612 [GRCh38]
ChrX:153298063 [GRCh37]
ChrX:Xq28
pathogenic|uncertain significance|no classifications from unflagged records|not provided
NM_001110792.2(MECP2):c.63-6C>G single nucleotide variant Rett syndrome [RCV000170187]|not provided [RCV000144095] ChrX:154032563 [GRCh38]
ChrX:153298014 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic|no classifications from unflagged records|not provided
NM_001110792.2(MECP2):c.63-8C>G single nucleotide variant Rett syndrome [RCV000170265]|not provided [RCV000144096] ChrX:154032565 [GRCh38]
ChrX:153298016 [GRCh37]
ChrX:Xq28
uncertain significance|no classifications from unflagged records|not provided
NM_001110792.2(MECP2):c.63-9A>G single nucleotide variant Rett syndrome [RCV000170266]|not provided [RCV000144097] ChrX:154032566 [GRCh38]
ChrX:153298017 [GRCh37]
ChrX:Xq28
uncertain significance|no classifications from unflagged records|not provided
NM_001110792.2(MECP2):c.413+18C>G single nucleotide variant Autism, susceptibility to, X-linked 3 [RCV000170267]|Rett syndrome [RCV001800458]|Severe neonatal-onset encephalopathy with microcephaly [RCV002514774]|not provided [RCV000144098]|not specified [RCV000605977] ChrX:154032189 [GRCh38]
ChrX:153297640 [GRCh37]
ChrX:Xq28
benign|likely benign|uncertain significance|no classifications from unflagged records|not provided
NM_001110792.2(MECP2):c.413+1G>A single nucleotide variant Rett syndrome [RCV000170191]|not provided [RCV000144099] ChrX:154032206 [GRCh38]
ChrX:153297657 [GRCh37]
ChrX:Xq28
pathogenic|no classifications from unflagged records|not provided
NM_001110792.2(MECP2):c.413+1G>T single nucleotide variant Rett syndrome [RCV000170192]|Stereotypic movement disorder [RCV000626871]|not provided [RCV000144100] ChrX:154032206 [GRCh38]
ChrX:153297657 [GRCh37]
ChrX:Xq28
pathogenic|no classifications from unflagged records|not provided
NM_001110792.2(MECP2):c.413+22C>G single nucleotide variant Rett syndrome [RCV003380491]|not provided [RCV000144101]|not specified [RCV000168680] ChrX:154032185 [GRCh38]
ChrX:153297636 [GRCh37]
ChrX:Xq28
benign|not provided
NM_001110792.2(MECP2):c.413+24C>A single nucleotide variant Rett syndrome [RCV001800459]|Severe neonatal-onset encephalopathy with microcephaly [RCV001080116]|X-linked intellectual disability-psychosis-macroorchidism syndrome [RCV000170268]|not provided [RCV000144102] ChrX:154032183 [GRCh38]
ChrX:153297634 [GRCh37]
ChrX:Xq28
likely benign|uncertain significance|no classifications from unflagged records|not provided
NM_001110792.2(MECP2):c.413+266T>C single nucleotide variant not provided [RCV000144103]|not specified [RCV000170089] ChrX:154031941 [GRCh38]
ChrX:153297392 [GRCh37]
ChrX:Xq28
benign|not provided
NM_001110792.2(MECP2):c.413+28A>G single nucleotide variant Rett syndrome [RCV000172865]|not provided [RCV000144104]|not specified [RCV000168681] ChrX:154032179 [GRCh38]
ChrX:153297630 [GRCh37]
ChrX:Xq28
benign|no classifications from unflagged records|not provided
NM_001110792.2(MECP2):c.413+2T>G single nucleotide variant Rett syndrome [RCV000170269]|not provided [RCV000144105] ChrX:154032205 [GRCh38]
ChrX:153297656 [GRCh37]
ChrX:Xq28
pathogenic|uncertain significance|no classifications from unflagged records|not provided
NM_001110792.2(MECP2):c.413+6_413+9del microsatellite Autism, susceptibility to, X-linked 3 [RCV000170270]|Rett syndrome [RCV001800460]|Severe neonatal-onset encephalopathy with microcephaly [RCV002512555]|not provided [RCV000144106]|not specified [RCV000614093] ChrX:154032198..154032201 [GRCh38]
ChrX:153297649..153297652 [GRCh37]
ChrX:Xq28
likely benign|uncertain significance|not provided
NM_001110792.2(MECP2):c.413+95G>A single nucleotide variant Rett syndrome [RCV003389410]|not provided [RCV000144107]|not specified [RCV000170091] ChrX:154032112 [GRCh38]
ChrX:153297563 [GRCh37]
ChrX:Xq28
pathogenic|benign|no classifications from unflagged records|not provided
NM_001110792.2(MECP2):c.414-109A>G single nucleotide variant Rett syndrome [RCV003380492]|not provided [RCV000144108]|not specified [RCV000170092] ChrX:154031559 [GRCh38]
ChrX:153297010 [GRCh37]
ChrX:Xq28
benign|not provided
NM_001110792.2(MECP2):c.414-14G>A single nucleotide variant Rett syndrome [RCV000170272]|Severe neonatal-onset encephalopathy with microcephaly [RCV002512556]|not provided [RCV000144109] ChrX:154031464 [GRCh38]
ChrX:153296915 [GRCh37]
ChrX:Xq28
likely benign|uncertain significance|no classifications from unflagged records|not provided
NM_001110792.2(MECP2):c.414-17del deletion Inborn genetic diseases [RCV002362776]|Rett syndrome [RCV000202549]|Severe neonatal-onset encephalopathy with microcephaly [RCV002055862]|not provided [RCV000144110]|not specified [RCV000168682] ChrX:154031467 [GRCh38]
ChrX:153296918 [GRCh37]
ChrX:Xq28
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters|not provided
NM_001110792.2(MECP2):c.414-241C>T single nucleotide variant not provided [RCV000144111]|not specified [RCV000170093] ChrX:154031691 [GRCh38]
ChrX:153297142 [GRCh37]
ChrX:Xq28
pathogenic|benign|not provided
NM_001110792.2(MECP2):c.414-2A>C single nucleotide variant Rett syndrome [RCV000170198]|not provided [RCV000144112] ChrX:154031452 [GRCh38]
ChrX:153296903 [GRCh37]
ChrX:Xq28
pathogenic|no classifications from unflagged records|not provided
NM_001110792.2(MECP2):c.414-2A>G single nucleotide variant Rett syndrome [RCV000170199]|not provided [RCV000144113] ChrX:154031452 [GRCh38]
ChrX:153296903 [GRCh37]
ChrX:Xq28
pathogenic|no classifications from unflagged records|not provided
NM_001110792.2(MECP2):c.414-2A>T single nucleotide variant Rett syndrome [RCV000170200]|not provided [RCV000144114] ChrX:154031452 [GRCh38]
ChrX:153296903 [GRCh37]
ChrX:Xq28
pathogenic|no classifications from unflagged records|not provided
NM_001110792.2(MECP2):c.414-3C>G single nucleotide variant Inborn genetic diseases [RCV002345450]|Rett syndrome [RCV000170202]|Severe neonatal-onset encephalopathy with microcephaly [RCV000800164]|Severe neonatal-onset encephalopathy with microcephaly [RCV003224800]|not provided [RCV000144115]|not specified [RCV001000857] ChrX:154031453 [GRCh38]
ChrX:153296904 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic|uncertain significance|not provided
NM_001110792.2(MECP2):c.414-3_419del deletion Severe neonatal-onset encephalopathy with microcephaly [RCV000170201]|not provided [RCV000144116] ChrX:154031445..154031453 [GRCh38]
ChrX:153296896..153296904 [GRCh37]
ChrX:Xq28
pathogenic|no classifications from unflagged records|not provided
NM_001110792.2(MECP2):c.414-61C>G single nucleotide variant X-linked intellectual disability-psychosis-macroorchidism syndrome [RCV000170273]|not provided [RCV000144117] ChrX:154031511 [GRCh38]
ChrX:153296962 [GRCh37]
ChrX:Xq28
uncertain significance|no classifications from unflagged records|not provided
NM_001110792.2(MECP2):c.414-74C>G single nucleotide variant not provided [RCV000144118] ChrX:154031524 [GRCh38]
ChrX:153296975 [GRCh37]
ChrX:Xq28
not provided
NM_001110792.2(MECP2):c.414-74C>T single nucleotide variant Rett syndrome [RCV003380493]|not provided [RCV000144119]|not specified [RCV000170095] ChrX:154031524 [GRCh38]
ChrX:153296975 [GRCh37]
ChrX:Xq28
pathogenic|benign|not provided
NM_001110792.2(MECP2):c.1152_1237del (p.His384fs) deletion Rett syndrome [RCV000170135]|Severe neonatal-onset encephalopathy with microcephaly [RCV001383624]|not provided [RCV000144423] ChrX:154030627..154030712 [GRCh38]
ChrX:153296078..153296163 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.1(MECP2):c.787dupC (p.Gly264Argfs) duplication not provided [RCV000144424] ChrX:154031078 [GRCh38]
ChrX:153296528 [GRCh37]
ChrX:Xq28
not provided
NM_001110792.2(MECP2):c.1108G>A (p.Ala370Thr) single nucleotide variant Rett syndrome [RCV000030161]|Seizure [RCV001256044]|Severe neonatal-onset encephalopathy with microcephaly [RCV000645112]|not provided [RCV001703425]|not specified [RCV000132845] ChrX:154030756 [GRCh38]
ChrX:153296207 [GRCh37]
ChrX:Xq28
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_001110792.2(MECP2):c.1187C>T (p.Pro396Leu) single nucleotide variant Rett syndrome [RCV003162262]|Severe neonatal-onset encephalopathy with microcephaly [RCV000822137]|X-linked intellectual disability-psychosis-macroorchidism syndrome [RCV000170251]|not provided [RCV001582501]|not specified [RCV000588422] ChrX:154030677 [GRCh38]
ChrX:153296128 [GRCh37]
ChrX:Xq28
likely pathogenic|likely benign|uncertain significance
NM_001110792.2(MECP2):c.1363G>A (p.Ala455Thr) single nucleotide variant Inborn genetic diseases [RCV002381273]|Intellectual disability [RCV001251833]|Rett syndrome [RCV002472321]|Severe neonatal-onset encephalopathy with microcephaly [RCV001079728]|X-linked intellectual disability-psychosis-macroorchidism syndrome [RCV000170261]|not provided [RCV000415982]|not specified [RCV000438624] ChrX:154030501 [GRCh38]
ChrX:153295952 [GRCh37]
ChrX:Xq28
likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001110792.2(MECP2):c.1477G>A (p.Val493Met) single nucleotide variant Rett syndrome [RCV000030164]|Severe neonatal-onset encephalopathy with microcephaly [RCV001057144]|not provided [RCV000724867]|not specified [RCV000194612] ChrX:154030387 [GRCh38]
ChrX:153295838 [GRCh37]
ChrX:Xq28
likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters|not provided
NM_001110792.2(MECP2):c.610A>T (p.Lys204Ter) single nucleotide variant Rett syndrome [RCV000030165] ChrX:154031254 [GRCh38]
ChrX:153296705 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_001110792.2(MECP2):c.934G>A (p.Val312Ile) single nucleotide variant Autism, susceptibility to, X-linked 3 [RCV000133270]|Inborn genetic diseases [RCV002371791]|Rett syndrome [RCV000030166]|Syndromic X-linked intellectual disability Lubs type [RCV002274901] ChrX:154030930 [GRCh38]
ChrX:153296381 [GRCh37]
ChrX:Xq28
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters|not provided
NM_001110792.2(MECP2):c.945C>G (p.Ile315Met) single nucleotide variant Rett syndrome [RCV000030167]|X-linked intellectual disability-psychosis-macroorchidism syndrome [RCV000133285] ChrX:154030919 [GRCh38]
ChrX:153296370 [GRCh37]
ChrX:Xq28
likely pathogenic|uncertain significance|not provided
NM_001110792.2(MECP2):c.968C>T (p.Thr323Met) single nucleotide variant Inborn genetic diseases [RCV002316203]|Rett syndrome [RCV000030168]|Severe neonatal-onset encephalopathy with microcephaly [RCV001089108]|X-linked intellectual disability-psychosis-macroorchidism syndrome [RCV000133294]|not provided [RCV000712288]|not specified [RCV000426076] ChrX:154030896 [GRCh38]
ChrX:153296347 [GRCh37]
ChrX:Xq28
likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters|not provided
NM_001110792.2(MECP2):c.710C>T (p.Pro237Leu) single nucleotide variant Rett syndrome [RCV000133194]|X-linked intellectual disability-psychosis-macroorchidism syndrome [RCV000012615] ChrX:154031154 [GRCh38]
ChrX:153296605 [GRCh37]
ChrX:Xq28
pathogenic|uncertain significance|not provided
NM_001110792.2(MECP2):c.1192_1224del (p.Leu398_Ser408del) deletion Severe neonatal-onset encephalopathy with microcephaly [RCV000012616] ChrX:154030640..154030672 [GRCh38]
ChrX:153296091..153296123 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.1000C>T (p.Pro334Ser) single nucleotide variant Rett syndrome [RCV000416315]|X-linked intellectual disability-psychosis-macroorchidism syndrome [RCV000012617]|not provided [RCV001090501] ChrX:154030864 [GRCh38]
ChrX:153296315 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters|not provided
NM_001110792.2(MECP2):c.490C>G (p.Pro164Ala) single nucleotide variant Rett syndrome [RCV000991003]|Rett syndrome, zappella variant [RCV000012618]|Severe neonatal-onset encephalopathy with microcephaly [RCV000763200]|Severe neonatal-onset encephalopathy with microcephaly [RCV001246099]|X-linked intellectual disability-psychosis-macroorchidism syndrome [RCV000133115]|not provided [RCV000492792] ChrX:154031374 [GRCh38]
ChrX:153296825 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_001110792.2(MECP2):c.5C>T (p.Ala2Val) single nucleotide variant Rett syndrome [RCV000012619]|Severe neonatal-onset encephalopathy with microcephaly [RCV001851806] ChrX:154097661 [GRCh38]
ChrX:153363118 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_001110792.2(MECP2):c.1214C>T (p.Pro405Leu) single nucleotide variant Inborn genetic diseases [RCV000622858]|Severe neonatal-onset encephalopathy with microcephaly [RCV001849957]|not provided [RCV000132944] ChrX:154030650 [GRCh38]
ChrX:153296101 [GRCh37]
ChrX:Xq28
uncertain significance|not provided
NM_001110792.2(MECP2):c.1214_1221del (p.Pro405fs) deletion not provided [RCV000132945] ChrX:154030643..154030650 [GRCh38]
ChrX:153296094..153296101 [GRCh37]
ChrX:Xq28
not provided
NM_001110792.2(MECP2):c.153dup (p.Glu52fs) duplication Rett syndrome [RCV000132946] ChrX:154032466..154032467 [GRCh38]
ChrX:153297917..153297918 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.1216G>A (p.Glu406Lys) single nucleotide variant Rett syndrome [RCV000445563]|Severe neonatal-onset encephalopathy with microcephaly [RCV001512332]|not specified [RCV000132947] ChrX:154030648 [GRCh38]
ChrX:153296099 [GRCh37]
ChrX:Xq28
benign|likely benign|conflicting interpretations of pathogenicity|not provided
NM_001110792.2(MECP2):c.1216_1241del (p.Glu406fs) deletion Rett syndrome [RCV000445571]|not provided [RCV000132948] ChrX:154030623..154030648 [GRCh38]
ChrX:153296074..153296099 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.1217_1227del (p.Glu406fs) deletion not provided [RCV000132949] ChrX:154030637..154030647 [GRCh38]
ChrX:153296088..153296098 [GRCh37]
ChrX:Xq28
not provided
NM_001110792.2(MECP2):c.1221_1227del (p.Ser407fs) deletion not provided [RCV000132950] ChrX:154030637..154030643 [GRCh38]
ChrX:153296088..153296094 [GRCh37]
ChrX:Xq28
not provided
NM_001110792.2(MECP2):c.746del (p.Gly249fs) deletion Inborn genetic diseases [RCV002362579]|Rett syndrome [RCV000012620]|Severe neonatal-onset encephalopathy with microcephaly [RCV001045878]|not specified [RCV000506656] ChrX:154031118 [GRCh38]
ChrX:153296569 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.1225G>T (p.Glu409Ter) single nucleotide variant Rett syndrome [RCV000132951] ChrX:154030639 [GRCh38]
ChrX:153296090 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.1225_1232del (p.Glu409fs) deletion not provided [RCV000132952] ChrX:154030632..154030639 [GRCh38]
ChrX:153296083..153296090 [GRCh37]
ChrX:Xq28
not provided
NM_001110792.2(MECP2):c.1226dup (p.Asp410fs) duplication Rett syndrome [RCV000132954] ChrX:154030637..154030638 [GRCh38]
ChrX:153296088..153296089 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic|not provided
NM_001110792.2(MECP2):c.1230_1231insT (p.Pro411fs) insertion Rett syndrome [RCV000132955] ChrX:154030633..154030634 [GRCh38]
ChrX:153296084..153296085 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.1232C>T (p.Pro411Leu) single nucleotide variant Rett syndrome [RCV003380460]|Severe neonatal-onset encephalopathy with microcephaly [RCV000861155]|not provided [RCV001310755]|not specified [RCV000132956] ChrX:154030632 [GRCh38]
ChrX:153296083 [GRCh37]
ChrX:Xq28
benign|likely benign|conflicting interpretations of pathogenicity|not provided
NM_001110792.2(MECP2):c.1233dup (p.Thr412fs) duplication Rett syndrome [RCV000132958]|not provided [RCV001812115] ChrX:154030630..154030631 [GRCh38]
ChrX:153296081..153296082 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic|not provided
NM_001110792.2(MECP2):c.155_156del (p.Glu52fs) microsatellite Rett syndrome [RCV000170105]|Severe neonatal-onset encephalopathy with microcephaly [RCV000132959] ChrX:154032464..154032465 [GRCh38]
ChrX:153297915..153297916 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic|not provided
NM_001110792.2(MECP2):c.1236dup (p.Ser413fs) duplication Rett syndrome [RCV000132960] ChrX:154030627..154030628 [GRCh38]
ChrX:153296078..153296079 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.1238G>A (p.Ser413Asn) single nucleotide variant Rett syndrome [RCV003380461]|Severe neonatal-onset encephalopathy with microcephaly [RCV002055850]|not specified [RCV000132961] ChrX:154030626 [GRCh38]
ChrX:153296077 [GRCh37]
ChrX:Xq28
benign|uncertain significance|not provided
NM_001110792.2(MECP2):c.1238dup (p.Ser413fs) duplication Rett syndrome [RCV000132962] ChrX:154030625..154030626 [GRCh38]
ChrX:153296076..153296077 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic|not provided
NM_001110792.2(MECP2):c.1242C>T (p.Pro414=) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV000456666]|not provided [RCV001719906]|not specified [RCV000132963] ChrX:154030622 [GRCh38]
ChrX:153296073 [GRCh37]
ChrX:Xq28
benign|likely benign|conflicting interpretations of pathogenicity|not provided
NM_001110792.2(MECP2):c.1250C>T (p.Pro417Leu) single nucleotide variant Rett syndrome [RCV000225647]|Severe neonatal-onset encephalopathy with microcephaly [RCV001004759]|X-linked intellectual disability-psychosis-macroorchidism syndrome [RCV000169944]|not provided [RCV000132964] ChrX:154030614 [GRCh38]
ChrX:153296065 [GRCh37]
ChrX:Xq28
benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_001110792.2(MECP2):c.1250_1266del (p.Pro417fs) deletion Encephalopathy, neonatal severeMental retardation, X-linked, syndromic 13Rett syndrome [RCV000146351]|Rett syndrome [RCV003380462]|not provided [RCV000132965] ChrX:154030598..154030614 [GRCh38]
ChrX:153296049..153296065 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic|not provided
NM_001110792.2(MECP2):c.1251C>T (p.Pro417=) single nucleotide variant Inborn genetic diseases [RCV002354325]|Rett syndrome [RCV003380463]|Severe neonatal-onset encephalopathy with microcephaly [RCV000477111]|not provided [RCV001704059]|not specified [RCV000132966] ChrX:154030613 [GRCh38]
ChrX:153296064 [GRCh37]
ChrX:Xq28
benign|likely benign|conflicting interpretations of pathogenicity|not provided
NM_001110792.2(MECP2):c.1252C>T (p.Gln418Ter) single nucleotide variant Rett syndrome [RCV000169933]|Severe neonatal-onset encephalopathy with microcephaly [RCV001057731]|X-linked intellectual disability-psychosis-macroorchidism syndrome [RCV000170106]|not provided [RCV000132967] ChrX:154030612 [GRCh38]
ChrX:153296063 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.1259_1301del (p.Leu420fs) deletion Rett syndrome [RCV000132968] ChrX:154030563..154030605 [GRCh38]
ChrX:153296014..153296056 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic|not provided
NM_001110792.2(MECP2):c.1265G>A (p.Ser422Asn) single nucleotide variant Rett syndrome [RCV000132969] ChrX:154030599 [GRCh38]
ChrX:153296050 [GRCh37]
ChrX:Xq28
uncertain significance|not provided
NM_001110792.2(MECP2):c.1268_1272del (p.Ser423fs) deletion not provided [RCV000132970] ChrX:154030592..154030596 [GRCh38]
ChrX:153296043..153296047 [GRCh37]
ChrX:Xq28
not provided
NM_001110792.2(MECP2):c.1268_1276del (p.Ser423_Cys425del) deletion not provided [RCV000132971] ChrX:154030588..154030596 [GRCh38]
ChrX:153296039..153296047 [GRCh37]
ChrX:Xq28
not provided
NM_001110792.2(MECP2):c.1270G>A (p.Val424Ile) single nucleotide variant Inborn genetic diseases [RCV002371978]|Rett syndrome [RCV003380464]|Severe neonatal-onset encephalopathy with microcephaly [RCV000867045]|not provided [RCV001701614]|not specified [RCV000132973] ChrX:154030594 [GRCh38]
ChrX:153296045 [GRCh37]
ChrX:Xq28
benign|likely benign|conflicting interpretations of pathogenicity|not provided
NM_001110792.2(MECP2):c.1120C>G (p.Pro374Ala) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV000547379] ChrX:154030744 [GRCh38]
ChrX:153296195 [GRCh37]
ChrX:Xq28
benign|uncertain significance
NM_001110792.2(MECP2):c.1189_1226del (p.Pro397fs) deletion Rett syndrome [RCV000132881] ChrX:154030638..154030675 [GRCh38]
ChrX:153296089..153296126 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.1190_1221del (p.Pro397fs) deletion Rett syndrome [RCV000132882] ChrX:154030643..154030674 [GRCh38]
ChrX:153296094..153296125 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.1190_1233del (p.Pro397fs) deletion Rett syndrome [RCV000132883] ChrX:154030631..154030674 [GRCh38]
ChrX:153296082..153296125 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.1191_1208del (p.Leu398_Pro403del) deletion Severe neonatal-onset encephalopathy with microcephaly [RCV001418755]|not provided [RCV000132884] ChrX:154030656..154030673 [GRCh38]
ChrX:153296107..153296124 [GRCh37]
ChrX:Xq28
likely benign|not provided
NM_001110792.2(MECP2):c.1191_1219del (p.Pro399fs) deletion Rett syndrome [RCV000132885] ChrX:154030645..154030673 [GRCh38]
ChrX:153296096..153296124 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.1191_1236del (p.Leu398fs) deletion Rett syndrome [RCV000132886]|Severe neonatal-onset encephalopathy with microcephaly [RCV001387825]|Syndromic X-linked intellectual disability Lubs type [RCV003333027]|not provided [RCV000479970] ChrX:154030628..154030673 [GRCh38]
ChrX:153296079..153296124 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic|not provided
NM_001110792.2(MECP2):c.1192_1193dup (p.Pro399fs) duplication Rett syndrome [RCV000132887] ChrX:154030670..154030671 [GRCh38]
ChrX:153296121..153296122 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.1192_1208del (p.Pro397_Leu398insTer) deletion Rett syndrome [RCV000132888] ChrX:154030656..154030672 [GRCh38]
ChrX:153296107..153296123 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.1192_1233del (p.Leu398_Pro411del) deletion Rett syndrome [RCV000132889] ChrX:154030631..154030672 [GRCh38]
ChrX:153296082..153296123 [GRCh37]
ChrX:Xq28
uncertain significance|not provided
NM_001110792.2(MECP2):c.1192_1236del (p.Leu398_Thr412del) deletion Rett syndrome [RCV000132890] ChrX:154030628..154030672 [GRCh38]
ChrX:153296079..153296123 [GRCh37]
ChrX:Xq28
uncertain significance|not provided
NM_001110792.2(MECP2):c.1193_1223del (p.Leu398fs) deletion Rett syndrome [RCV000132891] ChrX:154030641..154030671 [GRCh38]
ChrX:153296092..153296122 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.1193_1224del (p.Leu398fs) deletion Rett syndrome [RCV000168702]|Severe neonatal-onset encephalopathy with microcephaly [RCV001035576]|not provided [RCV003326356] ChrX:154030640..154030671 [GRCh38]
ChrX:153296091..153296122 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.1193_1227del (p.Leu398fs) deletion Rett syndrome [RCV003483510]|not provided [RCV000132893] ChrX:154030637..154030671 [GRCh38]
ChrX:153296088..153296122 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.1193_1228del (p.Leu398_Asp410delinsHis) deletion Rett syndrome [RCV003483511]|not specified [RCV000132894] ChrX:154030636..154030671 [GRCh38]
ChrX:153296087..153296122 [GRCh37]
ChrX:Xq28
uncertain significance|not provided
NM_001110792.2(MECP2):c.1193_1233del (p.Leu398fs) deletion Autism, susceptibility to, X-linked 3 [RCV000170099]|Rett syndrome [RCV000168701]|Rett syndrome, zappella variant [RCV000012592]|See cases [RCV002251999]|Severe neonatal-onset encephalopathy with microcephaly [RCV000645107]|X-linked intellectual disability-psychosis-macroorchidism syndrome [RCV000169930]|not provided [RCV000132895] ChrX:154030631..154030671 [GRCh38]
ChrX:153296082..153296122 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic|risk factor|no classifications from unflagged records|not provided
NM_001110792.2(MECP2):c.1193_1235del (p.Leu398fs) deletion Rett syndrome [RCV000132896] ChrX:154030629..154030671 [GRCh38]
ChrX:153296080..153296122 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.1193_1236del (p.Leu398fs) deletion Angelman syndrome [RCV000132897]|MECP2-related condition [RCV003390827]|Rett syndrome [RCV000170100]|Severe neonatal-onset encephalopathy with microcephaly [RCV000473761]|not provided [RCV000756326] ChrX:154030628..154030671 [GRCh38]
ChrX:153296079..153296122 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.1194_1203del (p.Pro399fs) deletion Rett syndrome [RCV000132898] ChrX:154030661..154030670 [GRCh38]
ChrX:153296112..153296121 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.1194_1222del (p.Pro399fs) deletion Rett syndrome [RCV000132899] ChrX:154030642..154030670 [GRCh38]
ChrX:153296093..153296121 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.1194_1222delinsCCA (p.Pro399fs) indel Rett syndrome [RCV000132900] ChrX:154030642..154030670 [GRCh38]
ChrX:153296093..153296121 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.1194_1234del (p.Pro399fs) deletion Rett syndrome [RCV000132901] ChrX:154030630..154030670 [GRCh38]
ChrX:153296081..153296121 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.1194_1236del (p.Pro399fs) deletion Rett syndrome [RCV000132902] ChrX:154030628..154030670 [GRCh38]
ChrX:153296079..153296121 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.1(MECP2):c.1194_1237del44 (p.Pro401Terfs) deletion not provided [RCV000132903] ChrX:154030627..154030670 [GRCh38]
ChrX:153296078..153296121 [GRCh37]
ChrX:Xq28
not provided
NM_001110792.2(MECP2):c.1195_1196delinsT (p.Pro399fs) indel Rett syndrome [RCV000132904]|X-linked intellectual disability-psychosis-macroorchidism syndrome [RCV000170101] ChrX:154030668..154030669 [GRCh38]
ChrX:153296119..153296120 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.1195_1210del (p.Pro399fs) deletion Severe neonatal-onset encephalopathy with microcephaly [RCV002514762]|not provided [RCV000132905] ChrX:154030654..154030669 [GRCh38]
ChrX:153296105..153296120 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic|not provided
NM_001110792.1(MECP2):c.1195_1229del35 (p.Pro400Hisfs) deletion not provided [RCV000132906] ChrX:154030635..154030669 [GRCh38]
ChrX:153296086..153296120 [GRCh37]
ChrX:Xq28
not provided
NM_001110792.2(MECP2):c.1195_1237del (p.Pro399fs) deletion Rett syndrome [RCV000132907] ChrX:154030627..154030669 [GRCh38]
ChrX:153296078..153296120 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.1196C>T (p.Pro399Leu) single nucleotide variant Inborn genetic diseases [RCV002371977]|Rett syndrome [RCV001800445]|Severe neonatal-onset encephalopathy with microcephaly [RCV001087050]|Severe neonatal-onset encephalopathy with microcephaly [RCV002498651]|X-linked intellectual disability-psychosis-macroorchidism syndrome [RCV000132908]|not provided [RCV000224689]|not specified [RCV000608016] ChrX:154030668 [GRCh38]
ChrX:153296119 [GRCh37]
ChrX:Xq28
benign|likely benign|uncertain significance|not provided
NM_001110792.2(MECP2):c.1196_1202del (p.Pro399fs) deletion Rett syndrome [RCV000132909]|not provided [RCV000414136] ChrX:154030662..154030668 [GRCh38]
ChrX:153296113..153296119 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.1196_1216del (p.Pro399_Glu406delinsGln) deletion Rett syndrome [RCV000132910] ChrX:154030648..154030668 [GRCh38]
ChrX:153296099..153296119 [GRCh37]
ChrX:Xq28
uncertain significance|not provided
NM_001110792.2(MECP2):c.1196_1221del (p.Pro399fs) deletion Rett syndrome [RCV000132911] ChrX:154030643..154030668 [GRCh38]
ChrX:153296094..153296119 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.1196_1224del (p.Pro399fs) deletion Rett syndrome [RCV000132912] ChrX:154030640..154030668 [GRCh38]
ChrX:153296091..153296119 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.1196_1236del (p.Pro399fs) deletion Rett syndrome [RCV000132913]|not provided [RCV000486453] ChrX:154030628..154030668 [GRCh38]
ChrX:153296079..153296119 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic|not provided
NM_001110792.2(MECP2):c.1197_1199del (p.Pro403del) deletion not provided [RCV000132915]|not specified [RCV000602397] ChrX:154030665..154030667 [GRCh38]
ChrX:153296116..153296118 [GRCh37]
ChrX:Xq28
likely benign|not provided
NM_001110792.2(MECP2):c.1197_1202del (p.Pro402_Pro403del) deletion Angelman syndrome [RCV000170256]|Rett syndrome [RCV002472323]|Severe neonatal-onset encephalopathy with microcephaly [RCV002055849]|not provided [RCV000132916] ChrX:154030662..154030667 [GRCh38]
ChrX:153296113..153296118 [GRCh37]
ChrX:Xq28
benign|likely benign|uncertain significance|not provided
NM_001110792.2(MECP2):c.1197_1205del (p.Pro401_Pro403del) deletion Severe neonatal-onset encephalopathy with microcephaly [RCV001857481]|not provided [RCV000132917] ChrX:154030659..154030667 [GRCh38]
ChrX:153296110..153296118 [GRCh37]
ChrX:Xq28
uncertain significance|not provided
NM_001110792.2(MECP2):c.1197_1241delinsA (p.Pro400_Pro401insTer) indel Rett syndrome [RCV000132918] ChrX:154030623..154030667 [GRCh38]
ChrX:153296074..153296118 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.1198C>T (p.Pro400Ser) single nucleotide variant Inborn genetic diseases [RCV002515928]|Intellectual disability [RCV001257761]|Rett syndrome [RCV000169943]|Severe neonatal-onset encephalopathy with microcephaly [RCV001078768]|not provided [RCV000726321] ChrX:154030666 [GRCh38]
ChrX:153296117 [GRCh37]
ChrX:Xq28
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_001110792.2(MECP2):c.1198_1199del (p.Pro400fs) deletion Rett syndrome [RCV003483512]|not provided [RCV000132920] ChrX:154030665..154030666 [GRCh38]
ChrX:153296116..153296117 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic|not provided
NM_001110792.2(MECP2):c.1198_1199delinsTA (p.Pro400Ter) indel Inborn genetic diseases [RCV002354324]|Intellectual disability [RCV000851513]|Severe neonatal-onset encephalopathy with microcephaly [RCV001849955]|X-linked intellectual disability-psychosis-macroorchidism syndrome [RCV000132921]|not provided [RCV000598706] ChrX:154030665..154030666 [GRCh38]
ChrX:153296116..153296117 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.1198_1215del (p.Pro400_Pro405del) deletion Rett syndrome [RCV001800446]|Severe neonatal-onset encephalopathy with microcephaly [RCV000645134]|not provided [RCV000488269]|not specified [RCV000132922] ChrX:154030649..154030666 [GRCh38]
ChrX:153296100..153296117 [GRCh37]
ChrX:Xq28
benign|likely benign|uncertain significance|not provided
NM_001110792.2(MECP2):c.1198_1227del (p.Pro400_Glu409del) deletion Rett syndrome [RCV000132923] ChrX:154030637..154030666 [GRCh38]
ChrX:153296088..153296117 [GRCh37]
ChrX:Xq28
uncertain significance|not provided
NM_001110792.2(MECP2):c.1199C>T (p.Pro400Leu) single nucleotide variant Rett syndrome [RCV000132924]|Severe neonatal-onset encephalopathy with microcephaly [RCV001519066]|not provided [RCV000693901] ChrX:154030665 [GRCh38]
ChrX:153296116 [GRCh37]
ChrX:Xq28
benign|likely benign|uncertain significance|not provided
NM_001110792.2(MECP2):c.1199_1209del (p.Pro400fs) deletion not provided [RCV000132925] ChrX:154030655..154030665 [GRCh38]
ChrX:153296106..153296116 [GRCh37]
ChrX:Xq28
not provided
NM_001110792.2(MECP2):c.1199_1215del (p.Pro400fs) deletion Rett syndrome [RCV000132926]|not provided [RCV001268421] ChrX:154030649..154030665 [GRCh38]
ChrX:153296100..153296116 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.1199_1224del (p.Pro400fs) deletion Inborn genetic diseases [RCV002321617]|Rett syndrome [RCV000132927] ChrX:154030640..154030665 [GRCh38]
ChrX:153296091..153296116 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.1199_1233del (p.Pro400fs) deletion Rett syndrome [RCV000132928]|Severe neonatal-onset encephalopathy with microcephaly [RCV001383623]|not provided [RCV000132906] ChrX:154030631..154030665 [GRCh38]
ChrX:153296082..153296116 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic|not provided
NM_001110792.2(MECP2):c.1199_1237del (p.Pro400_Ser413delinsArg) deletion Severe neonatal-onset encephalopathy with microcephaly [RCV000132929] ChrX:154030627..154030665 [GRCh38]
ChrX:153296078..153296116 [GRCh37]
ChrX:Xq28
uncertain significance|not provided
NM_001110792.2(MECP2):c.1200_1208del (p.Pro401_Pro403del) deletion Rett syndrome [RCV000132930]|Severe neonatal-onset encephalopathy with microcephaly [RCV001208707] ChrX:154030656..154030664 [GRCh38]
ChrX:153296107..153296115 [GRCh37]
ChrX:Xq28
uncertain significance|not provided
NM_001110792.2(MECP2):c.1200_1242del (p.Pro401fs) deletion Rett syndrome [RCV000132931] ChrX:154030622..154030664 [GRCh38]
ChrX:153296073..153296115 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.1200_1243del (p.Pro400_Pro401insTer) deletion Autism, susceptibility to, X-linked 3 [RCV000169931]|Delayed speech and language development [RCV000415090]|Inborn genetic diseases [RCV000624849]|MECP2-Related Disorders [RCV003323414]|Rett syndrome [RCV000170103]|Rett syndrome, zappella variant [RCV000012595]|See cases [RCV001420272]|Severe neonatal-onset encephalopathy with microcephaly [RCV000169932]|Severe neonatal-onset encephalopathy with microcephaly [RCV000768267]|Smith-Magenis Syndrome-like [RCV000491803]|X-linked intellectual disability-psychosis-macroorchidism syndrome [RCV000170102]|not provided [RCV000132932]|not specified [RCV001002125] ChrX:154030621..154030664 [GRCh38]
ChrX:153296072..153296115 [GRCh37]
ChrX:Xq28
pathogenic|uncertain significance|not provided
NM_001110792.2(MECP2):c.1200_1244del (p.Pro401_Pro415del) deletion Rett syndrome [RCV000132933] ChrX:154030620..154030664 [GRCh38]
ChrX:153296071..153296115 [GRCh37]
ChrX:Xq28
likely benign|uncertain significance|not provided
NM_001110792.2(MECP2):c.1200del (p.Pro401fs) deletion Rett syndrome [RCV000132934] ChrX:154030664 [GRCh38]
ChrX:153296115 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic|not provided
NM_001110792.2(MECP2):c.1201_1226del (p.Pro401fs) deletion Rett syndrome [RCV000132935]|Severe neonatal-onset encephalopathy with microcephaly [RCV001383622] ChrX:154030638..154030663 [GRCh38]
ChrX:153296089..153296114 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.1203_1212del (p.Pro403fs) deletion not provided [RCV000132936] ChrX:154030652..154030661 [GRCh38]
ChrX:153296103..153296112 [GRCh37]
ChrX:Xq28
not provided
NM_001110792.2(MECP2):c.1203_1236del (p.Pro402fs) deletion Rett syndrome [RCV000132937]|Severe neonatal-onset encephalopathy with microcephaly [RCV001849956] ChrX:154030628..154030661 [GRCh38]
ChrX:153296079..153296112 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.1198CCACCT[1] (p.Pro402_Pro403del) microsatellite Rett syndrome [RCV000445582]|Severe neonatal-onset encephalopathy with microcephaly [RCV001080264]|not provided [RCV000132938]|not specified [RCV000169922] ChrX:154030655..154030660 [GRCh38]
ChrX:153296106..153296111 [GRCh37]
ChrX:Xq28
benign|likely benign|conflicting interpretations of pathogenicity|not provided
NM_001110792.2(MECP2):c.1206_1243del (p.Pro402_Pro403insTer) deletion Rett syndrome [RCV000192997]|not provided [RCV000132940] ChrX:154030621..154030658 [GRCh38]
ChrX:153296072..153296109 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic|not provided
NM_001110792.2(MECP2):c.1209_1224del (p.Glu404fs) deletion not provided [RCV000132941] ChrX:154030640..154030655 [GRCh38]
ChrX:153296091..153296106 [GRCh37]
ChrX:Xq28
not provided
NM_001110792.2(MECP2):c.1212G>A (p.Glu404=) single nucleotide variant Rett syndrome [RCV003380458]|not specified [RCV000132942] ChrX:154030652 [GRCh38]
ChrX:153296103 [GRCh37]
ChrX:Xq28
benign|likely benign|not provided
NM_001110792.2(MECP2):c.1212_1229del (p.Glu404_Glu409del) deletion not provided [RCV000132943] ChrX:154030635..154030652 [GRCh38]
ChrX:153296086..153296103 [GRCh37]
ChrX:Xq28
not provided
NM_004992.3(MECP2):c.(?_-1)_(26_?)del deletion Rett syndrome [RCV000132824]   pathogenic|not provided
NM_004992.3(MECP2):c.1-?dup duplication Rett syndrome [RCV000132825] ChrX:154021812..154092209 [GRCh38]
ChrX:Xq28
uncertain significance|not provided
NM_004992.3(MECP2):c.(?_1169)_(1170_?)del (p.(?)) deletion Rett syndrome [RCV000132939]   pathogenic|not provided
NM_001110792.2(MECP2):c.1225_1267inv (p.Glu409_Ser423delinsCysCysSerSerProGlyAlaGlnGlyGlyTrpTrpGlyProArg) inversion not provided [RCV000132953] ChrX:154030597..154030639 [GRCh38]
ChrX:153296048..153296090 [GRCh37]
ChrX:Xq28
not provided
NM_001110792.2(MECP2):c.1233_1273inv (p.Thr412_Cys425delinsAspAlaAlaAlaGlnValLeuGlyLeuArgGlyAlaGlyGly) inversion not provided [RCV000132957] ChrX:154030591..154030631 [GRCh38]
ChrX:153296042..153296082 [GRCh37]
ChrX:Xq28
not provided
NM_004992.3(MECP2):c.(?_1367)_(1431_?)del (p.(?)) deletion Rett syndrome [RCV000133001]   pathogenic|not provided
NM_004992.3(MECP2):c.(?_631)_(657_?)del (p.(?)) deletion Rett syndrome [RCV000133183]   pathogenic|not provided
NM_001110792.2(MECP2):c.786delinsTCAGGAAGCTT (p.Pro263fs) indel Rett syndrome [RCV000133224] ChrX:154031078 [GRCh38]
ChrX:153296529 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.*1134G>A single nucleotide variant Rett syndrome [RCV003380421]|not specified [RCV000132773] ChrX:154029233 [GRCh38]
ChrX:153294684 [GRCh37]
ChrX:Xq28
benign|uncertain significance|not provided
NM_001110792.2(MECP2):c.*122del deletion Rett syndrome [RCV000132774] ChrX:154030245 [GRCh38]
ChrX:153295696 [GRCh37]
ChrX:Xq28
likely benign|uncertain significance|not provided
NM_001110792.2(MECP2):c.*1237T>C single nucleotide variant Rett syndrome [RCV003380422]|not specified [RCV000132775] ChrX:154029130 [GRCh38]
ChrX:153294581 [GRCh37]
ChrX:Xq28
benign|not provided
NM_001110792.2(MECP2):c.*1368C>A single nucleotide variant Autism, susceptibility to, X-linked 3 [RCV000132776]|Rett syndrome [RCV003380423]|not provided [RCV003133147] ChrX:154028999 [GRCh38]
ChrX:153294450 [GRCh37]
ChrX:Xq28
benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_001110792.2(MECP2):c.*1737G>A single nucleotide variant Rett syndrome [RCV003380424]|not specified [RCV000132777] ChrX:154028630 [GRCh38]
ChrX:153294081 [GRCh37]
ChrX:Xq28
benign|not provided
NM_001110792.2(MECP2):c.*177G>C single nucleotide variant Autism, susceptibility to, X-linked 3 [RCV000132778] ChrX:154030190 [GRCh38]
ChrX:153295641 [GRCh37]
ChrX:Xq28
uncertain significance|not provided
NM_001110792.2(MECP2):c.*204G>A single nucleotide variant Autism, susceptibility to, X-linked 3 [RCV000132779]|Rett syndrome [RCV003380425] ChrX:154030163 [GRCh38]
ChrX:153295614 [GRCh37]
ChrX:Xq28
uncertain significance|not provided
NM_001110792.2(MECP2):c.*2556T>A single nucleotide variant Autism, susceptibility to, X-linked 3 [RCV000132780]|Rett syndrome [RCV003380426] ChrX:154027811 [GRCh38]
ChrX:153293262 [GRCh37]
ChrX:Xq28
benign|uncertain significance|not provided
NM_001110792.2(MECP2):c.*2657G>A single nucleotide variant Autism, susceptibility to, X-linked 3 [RCV000132781]|Rett syndrome [RCV003380427] ChrX:154027710 [GRCh38]
ChrX:153293161 [GRCh37]
ChrX:Xq28
benign|uncertain significance|not provided
NM_001110792.2(MECP2):c.*2706G>A single nucleotide variant Autism, susceptibility to, X-linked 3 [RCV000132782]|Rett syndrome [RCV003380428]|not provided [RCV003436950] ChrX:154027661 [GRCh38]
ChrX:153293112 [GRCh37]
ChrX:Xq28
benign|likely benign|uncertain significance|not provided
NM_001110792.2(MECP2):c.*2956G>A single nucleotide variant Autism, susceptibility to, X-linked 3 [RCV000132783]|Rett syndrome [RCV003380429] ChrX:154027411 [GRCh38]
ChrX:153292862 [GRCh37]
ChrX:Xq28
benign|uncertain significance|not provided
NM_001110792.2(MECP2):c.*328G>A single nucleotide variant Rett syndrome [RCV003380430]|not specified [RCV000132784] ChrX:154030039 [GRCh38]
ChrX:153295490 [GRCh37]
ChrX:Xq28
benign|not provided
NM_001110792.2(MECP2):c.*3477G>A single nucleotide variant Rett syndrome [RCV003380431]|not specified [RCV000132785] ChrX:154026890 [GRCh38]
ChrX:153292341 [GRCh37]
ChrX:Xq28
benign|not provided
NM_001110792.2(MECP2):c.*359G>C single nucleotide variant Rett syndrome [RCV003380432]|not specified [RCV000132786] ChrX:154030008 [GRCh38]
ChrX:153295459 [GRCh37]
ChrX:Xq28
benign|not provided
NM_001110792.2(MECP2):c.*363G>C single nucleotide variant Rett syndrome [RCV003380433]|not specified [RCV000132787] ChrX:154030004 [GRCh38]
ChrX:153295455 [GRCh37]
ChrX:Xq28
benign|not provided
NM_001110792.2(MECP2):c.*3658C>T single nucleotide variant Autism, susceptibility to, X-linked 3 [RCV000132788]|Rett syndrome [RCV003389396] ChrX:154026709 [GRCh38]
ChrX:153292160 [GRCh37]
ChrX:Xq28
benign|uncertain significance|not provided
NM_001110792.2(MECP2):c.*3662A>G single nucleotide variant Rett syndrome [RCV003380434]|not specified [RCV000132789] ChrX:154026705 [GRCh38]
ChrX:153292156 [GRCh37]
ChrX:Xq28
benign|not provided
NM_001110792.2(MECP2):c.*36G>C single nucleotide variant Rett syndrome [RCV003380435]|not specified [RCV000132790] ChrX:154030331 [GRCh38]
ChrX:153295782 [GRCh37]
ChrX:Xq28
benign|likely benign|not provided
NM_001110792.2(MECP2):c.*371G>C single nucleotide variant Autism, susceptibility to, X-linked 3 [RCV000132791]|Rett syndrome [RCV003380436]|not provided [RCV003436951] ChrX:154029996 [GRCh38]
ChrX:153295447 [GRCh37]
ChrX:Xq28
benign|likely benign|uncertain significance|not provided
NM_001110792.2(MECP2):c.*3878G>C single nucleotide variant Rett syndrome [RCV003380437]|not specified [RCV000132792] ChrX:154026489 [GRCh38]
ChrX:153291940 [GRCh37]
ChrX:Xq28
benign|not provided
NM_001110792.2(MECP2):c.*393G>A single nucleotide variant Rett syndrome [RCV003389397]|not specified [RCV000132793] ChrX:154029974 [GRCh38]
ChrX:153295425 [GRCh37]
ChrX:Xq28
benign|not provided
NM_001110792.2(MECP2):c.*4084GT[1] microsatellite Rett syndrome [RCV003380438]|not specified [RCV000132794] ChrX:154026280..154026281 [GRCh38]
ChrX:153291731..153291732 [GRCh37]
ChrX:Xq28
benign|uncertain significance|not provided
NM_001110792.2(MECP2):c.*4576A>C single nucleotide variant Rett syndrome [RCV003380439]|not specified [RCV000132795] ChrX:154025791 [GRCh38]
ChrX:153291242 [GRCh37]
ChrX:Xq28
benign|not provided
NM_001110792.2(MECP2):c.*487G>C single nucleotide variant Rett syndrome [RCV003380440]|not specified [RCV000132796] ChrX:154029880 [GRCh38]
ChrX:153295331 [GRCh37]
ChrX:Xq28
benign|not provided
NM_001110792.2(MECP2):c.*489G>C single nucleotide variant Rett syndrome [RCV003380441]|not specified [RCV000132797] ChrX:154029878 [GRCh38]
ChrX:153295329 [GRCh37]
ChrX:Xq28
benign|not provided
NM_001110792.2(MECP2):c.*529G>T single nucleotide variant Rett syndrome [RCV003380442]|not specified [RCV000132798] ChrX:154029838 [GRCh38]
ChrX:153295289 [GRCh37]
ChrX:Xq28
benign|not provided
NM_001110792.2(MECP2):c.*5348T>C single nucleotide variant Autism, susceptibility to, X-linked 3 [RCV000132799]|not provided [RCV003436952] ChrX:154025019 [GRCh38]
ChrX:153290470 [GRCh37]
ChrX:Xq28
likely benign|uncertain significance|not provided
NM_001110792.2(MECP2):c.*544G>A single nucleotide variant Autism, susceptibility to, X-linked 3 [RCV000132800]|Rett syndrome [RCV003389240] ChrX:154029823 [GRCh38]
ChrX:153295274 [GRCh37]
ChrX:Xq28
benign|uncertain significance|not provided
NM_001110792.2(MECP2):c.*5478AT[6] microsatellite Rett syndrome [RCV003389398]|not specified [RCV000132801] ChrX:154024879..154024880 [GRCh38]
ChrX:153290330..153290331 [GRCh37]
ChrX:Xq28
benign|not provided
NM_001110792.2(MECP2):c.*554G>A single nucleotide variant Autism, susceptibility to, X-linked 3 [RCV000132802]|Rett syndrome [RCV003380444] ChrX:154029813 [GRCh38]
ChrX:153295264 [GRCh37]
ChrX:Xq28
benign|uncertain significance|not provided
NM_001110792.2(MECP2):c.*55C>G single nucleotide variant Rett syndrome [RCV003389399]|not specified [RCV000132803] ChrX:154030312 [GRCh38]
ChrX:153295763 [GRCh37]
ChrX:Xq28
benign|not provided
NM_001110792.2(MECP2):c.*5839C>T single nucleotide variant Rett syndrome [RCV003380445]|not specified [RCV000132804] ChrX:154024528 [GRCh38]
ChrX:153289979 [GRCh37]
ChrX:Xq28
benign|likely benign|not provided
NM_001110792.2(MECP2):c.*767G>T single nucleotide variant Autism, susceptibility to, X-linked 3 [RCV000132805]|Rett syndrome [RCV003380446] ChrX:154029600 [GRCh38]
ChrX:153295051 [GRCh37]
ChrX:Xq28
uncertain significance|not provided
NM_001110792.2(MECP2):c.*7748C>T single nucleotide variant Rett syndrome [RCV003380447]|not specified [RCV000132806] ChrX:154022619 [GRCh38]
ChrX:153288070 [GRCh37]
ChrX:Xq28
benign|not provided
NM_001110792.2(MECP2):c.*7856A>C single nucleotide variant Rett syndrome [RCV003389400]|not specified [RCV000132807] ChrX:154022511 [GRCh38]
ChrX:153287962 [GRCh37]
ChrX:Xq28
benign|not provided
NM_001110792.2(MECP2):c.*796_*822del deletion not provided [RCV000132808] ChrX:154029545..154029571 [GRCh38]
ChrX:153294996..153295022 [GRCh37]
ChrX:Xq28
not provided
NM_001110792.2(MECP2):c.*806G>A single nucleotide variant Rett syndrome [RCV003389401]|not provided [RCV003436953]|not specified [RCV000132809] ChrX:154029561 [GRCh38]
ChrX:153295012 [GRCh37]
ChrX:Xq28
benign|likely benign|not provided
NM_001110792.2(MECP2):c.*831G>C single nucleotide variant Rett syndrome [RCV003380448]|not specified [RCV000132810] ChrX:154029536 [GRCh38]
ChrX:153294987 [GRCh37]
ChrX:Xq28
benign|likely benign|not provided
NM_001110792.2(MECP2):c.*8500C>G single nucleotide variant Rett syndrome [RCV003380449]|not specified [RCV000132811] ChrX:154021867 [GRCh38]
ChrX:153287318 [GRCh37]
ChrX:Xq28
benign|uncertain significance|not provided
NM_001110792.2(MECP2):c.*8503del deletion Rett syndrome [RCV003380450]|not specified [RCV000132812] ChrX:154021864 [GRCh38]
ChrX:153287315 [GRCh37]
ChrX:Xq28
benign|not provided
NM_001110792.2(MECP2):c.1097G>A (p.Arg366His) single nucleotide variant Rett syndrome [RCV003380456]|not specified [RCV000132840] ChrX:154030767 [GRCh38]
ChrX:153296218 [GRCh37]
ChrX:Xq28
benign|uncertain significance|not provided
NM_001110792.2(MECP2):c.1097G>T (p.Arg366Leu) single nucleotide variant Rett syndrome [RCV003380457]|Severe neonatal-onset encephalopathy with microcephaly [RCV001465694]|not specified [RCV000132841] ChrX:154030767 [GRCh38]
ChrX:153296218 [GRCh37]
ChrX:Xq28
benign|likely benign|uncertain significance|not provided
NM_001110792.2(MECP2):c.1097_1110del (p.Arg366fs) deletion not provided [RCV000132842] ChrX:154030754..154030767 [GRCh38]
ChrX:153296205..153296218 [GRCh37]
ChrX:Xq28
not provided
NM_001110792.2(MECP2):c.1101C>T (p.Ser367=) single nucleotide variant not specified [RCV000132843] ChrX:154030763 [GRCh38]
ChrX:153296214 [GRCh37]
ChrX:Xq28
benign|not provided
NM_001110792.2(MECP2):c.1099AGC[2] (p.Ser369del) microsatellite Rett syndrome [RCV000132844]|Severe neonatal-onset encephalopathy with microcephaly [RCV002515924] ChrX:154030757..154030759 [GRCh38]
ChrX:153296208..153296210 [GRCh37]
ChrX:Xq28
pathogenic|uncertain significance|not provided
NM_001110792.2(MECP2):c.1111T>C (p.Ser371Pro) single nucleotide variant Inborn genetic diseases [RCV002415625]|Severe neonatal-onset encephalopathy with microcephaly [RCV000470986]|not specified [RCV000132846] ChrX:154030753 [GRCh38]
ChrX:153296204 [GRCh37]
ChrX:Xq28
benign|likely benign|conflicting interpretations of pathogenicity|not provided
NM_001110792.2(MECP2):c.1115C>A (p.Ser372Ter) single nucleotide variant Rett syndrome [RCV000132847] ChrX:154030749 [GRCh38]
ChrX:153296200 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.143_144del (p.Lys48fs) deletion Rett syndrome [RCV000132848] ChrX:154032476..154032477 [GRCh38]
ChrX:153297927..153297928 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.143_149del (p.Lys48fs) deletion Rett syndrome [RCV000132849]|Severe neonatal-onset encephalopathy with microcephaly [RCV002515925] ChrX:154032471..154032477 [GRCh38]
ChrX:153297922..153297928 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic|not provided
NM_001110792.2(MECP2):c.1117C>G (p.Pro373Ala) single nucleotide variant Rett syndrome [RCV002260615]|Severe neonatal-onset encephalopathy with microcephaly [RCV000867100]|not specified [RCV000132850] ChrX:154030747 [GRCh38]
ChrX:153296198 [GRCh37]
ChrX:Xq28
benign|likely benign|uncertain significance|not provided
NM_001110792.2(MECP2):c.1123A>T (p.Lys375Ter) single nucleotide variant Rett syndrome [RCV000132851] ChrX:154030741 [GRCh38]
ChrX:153296192 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.1124_1151del (p.Lys375fs) deletion not provided [RCV000132852] ChrX:154030713..154030740 [GRCh38]
ChrX:153296164..153296191 [GRCh37]
ChrX:Xq28
not provided
NM_001110792.2(MECP2):c.144_147del (p.Glu49fs) microsatellite Angelman syndrome [RCV000473677]|Rett syndrome [RCV000132853]|Severe neonatal-onset encephalopathy with microcephaly [RCV001386106]|not provided [RCV001781481] ChrX:154032473..154032476 [GRCh38]
ChrX:153297924..153297927 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.1135_1154del (p.His379fs) deletion Rett syndrome [RCV000132854] ChrX:154030710..154030729 [GRCh38]
ChrX:153296161..153296180 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.1140C>T (p.His380=) single nucleotide variant not provided [RCV000132855] ChrX:154030724 [GRCh38]
ChrX:153296175 [GRCh37]
ChrX:Xq28
not provided
NM_001110792.2(MECP2):c.1134CCA[2] (p.His384del) microsatellite Rett syndrome [RCV000132856]|Severe neonatal-onset encephalopathy with microcephaly [RCV002515926]|not provided [RCV000522093] ChrX:154030722..154030724 [GRCh38]
ChrX:153296173..153296175 [GRCh37]
ChrX:Xq28
uncertain significance|not provided
NM_001110792.2(MECP2):c.1141_1152del (p.His381_His384del) deletion Severe neonatal-onset encephalopathy with microcephaly [RCV001342919]|not provided [RCV000132857] ChrX:154030712..154030723 [GRCh38]
ChrX:153296163..153296174 [GRCh37]
ChrX:Xq28
uncertain significance|not provided
NM_001110792.2(MECP2):c.1141del (p.His381fs) deletion not provided [RCV000132858] ChrX:154030723 [GRCh38]
ChrX:153296174 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.1154C>G (p.Ser385Ter) single nucleotide variant Rett syndrome [RCV000193072]|not provided [RCV000132859] ChrX:154030710 [GRCh38]
ChrX:153296161 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.1161_1173del (p.Pro388fs) deletion not provided [RCV000132860] ChrX:154030691..154030703 [GRCh38]
ChrX:153296142..153296154 [GRCh37]
ChrX:Xq28
not provided
NM_001110792.2(MECP2):c.1163C>G (p.Pro388Arg) single nucleotide variant Autism, susceptibility to, X-linked 3 [RCV000132861]|Rett syndrome [RCV003389403]|Severe neonatal-onset encephalopathy with microcephaly [RCV001857480] ChrX:154030701 [GRCh38]
ChrX:153296152 [GRCh37]
ChrX:Xq28
uncertain significance|not provided
NM_001110792.2(MECP2):c.1163_1173del (p.Pro388fs) deletion Rett syndrome [RCV000132862] ChrX:154030691..154030701 [GRCh38]
ChrX:153296142..153296152 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.1165_1169delinsGAGT (p.Lys389fs) indel not provided [RCV000132863] ChrX:154030695..154030699 [GRCh38]
ChrX:153296146..153296150 [GRCh37]
ChrX:Xq28
not provided
NM_001110792.2(MECP2):c.1168_1195del (p.Ala390fs) deletion not provided [RCV000132864] ChrX:154030669..154030696 [GRCh38]
ChrX:153296120..153296147 [GRCh37]
ChrX:Xq28
not provided
NM_001110792.2(MECP2):c.1169C>G (p.Ala390Gly) single nucleotide variant Inborn genetic diseases [RCV002515927]|MECP2-related condition [RCV003398777]|Rett syndrome [RCV000132865]|Severe neonatal-onset encephalopathy with microcephaly [RCV001245011]|not provided [RCV001546726] ChrX:154030695 [GRCh38]
ChrX:153296146 [GRCh37]
ChrX:Xq28
likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_001110792.2(MECP2):c.1169C>T (p.Ala390Val) single nucleotide variant Rett syndrome [RCV002260616]|Severe neonatal-onset encephalopathy with microcephaly [RCV000694069]|not provided [RCV001090499]|not specified [RCV000132866] ChrX:154030695 [GRCh38]
ChrX:153296146 [GRCh37]
ChrX:Xq28
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_001110792.2(MECP2):c.1171_1178del (p.Pro391fs) deletion Intellectual disability [RCV000851500]|Rett syndrome [RCV003388830]|X-linked intellectual disability-psychosis-macroorchidism syndrome [RCV000132867]|not provided [RCV000494344] ChrX:154030686..154030693 [GRCh38]
ChrX:153296137..153296144 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.1172_1178del (p.Pro391fs) deletion not provided [RCV000132868] ChrX:154030686..154030692 [GRCh38]
ChrX:153296137..153296143 [GRCh37]
ChrX:Xq28
not provided
NM_001110792.2(MECP2):c.1174G>A (p.Val392Met) single nucleotide variant Inborn genetic diseases [RCV002321616]|Rett syndrome [RCV000225614]|Severe neonatal-onset encephalopathy with microcephaly [RCV001087462]|Severe neonatal-onset encephalopathy with microcephaly [RCV002505117]|X-linked intellectual disability-psychosis-macroorchidism syndrome [RCV000169942]|not provided [RCV000724404] ChrX:154030690 [GRCh38]
ChrX:153296141 [GRCh37]
ChrX:Xq28
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_001110792.2(MECP2):c.1174_1199del (p.Val392fs) deletion Intellectual disability [RCV001261387]|Rett syndrome [RCV001262717]|Severe neonatal-onset encephalopathy with microcephaly [RCV001386238]|not provided [RCV000132871] ChrX:154030665..154030690 [GRCh38]
ChrX:153296116..153296141 [GRCh37]
ChrX:Xq28
pathogenic|likely benign|not provided
NM_001110792.2(MECP2):c.1177C>G (p.Pro393Ala) single nucleotide variant not specified [RCV000132872] ChrX:154030687 [GRCh38]
ChrX:153296138 [GRCh37]
ChrX:Xq28
benign|not provided
NM_001110792.2(MECP2):c.1181_1230del (p.Leu394fs) deletion Rett syndrome [RCV000132873] ChrX:154030634..154030683 [GRCh38]
ChrX:153296085..153296134 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.1184_1213del (p.Leu395_Glu404del) deletion not provided [RCV000132874] ChrX:154030651..154030680 [GRCh38]
ChrX:153296102..153296131 [GRCh37]
ChrX:Xq28
not provided
NM_001110792.2(MECP2):c.1186_1228del (p.Pro396fs) deletion Rett syndrome [RCV000132875] ChrX:154030636..154030678 [GRCh38]
ChrX:153296087..153296129 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.1187_1219del (p.Pro396_Ser407delinsArg) deletion Rett syndrome [RCV000132876] ChrX:154030645..154030677 [GRCh38]
ChrX:153296096..153296128 [GRCh37]
ChrX:Xq28
uncertain significance|not provided
NM_001110792.2(MECP2):c.1187_1224del (p.Pro396fs) deletion Rett syndrome [RCV000132877]|Severe neonatal-onset encephalopathy with microcephaly [RCV002514761] ChrX:154030640..154030677 [GRCh38]
ChrX:153296091..153296128 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.1187_1227del (p.Pro396fs) deletion Rett syndrome [RCV000132878] ChrX:154030637..154030677 [GRCh38]
ChrX:153296088..153296128 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.1188_1191del (p.Pro397fs) deletion Inborn genetic diseases [RCV002345447]|Rett syndrome [RCV000132879] ChrX:154030673..154030676 [GRCh38]
ChrX:153296124..153296127 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.1188_1231del (p.Pro397fs) deletion Rett syndrome [RCV000132880] ChrX:154030633..154030676 [GRCh38]
ChrX:153296084..153296127 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.1199dup (p.Pro401fs) duplication Inborn genetic diseases [RCV000622820]|Rett syndrome [RCV002468587]|not provided [RCV000522145] ChrX:154030664..154030665 [GRCh38]
ChrX:153296115..153296116 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic
NM_001110792.2(MECP2):c.*8503dup duplication Rett syndrome [RCV003389402]|not specified [RCV000132813] ChrX:154021863..154021864 [GRCh38]
ChrX:153287314..153287315 [GRCh37]
ChrX:Xq28
benign|not provided
NM_001110792.2(MECP2):c.*861T>G single nucleotide variant Autism, susceptibility to, X-linked 3 [RCV000132814]|Rett syndrome [RCV003380451] ChrX:154029506 [GRCh38]
ChrX:153294957 [GRCh37]
ChrX:Xq28
benign|uncertain significance|not provided
NM_001110792.2(MECP2):c.*875dup duplication Rett syndrome [RCV003380452]|not specified [RCV000132815] ChrX:154029491..154029492 [GRCh38]
ChrX:153294942..153294943 [GRCh37]
ChrX:Xq28
benign|uncertain significance|not provided
NM_001110792.2(MECP2):c.*878C>G single nucleotide variant Rett syndrome [RCV003380453]|not specified [RCV000132816] ChrX:154029489 [GRCh38]
ChrX:153294940 [GRCh37]
ChrX:Xq28
benign|not provided
NM_001110792.2(MECP2):c.*8C>T single nucleotide variant not specified [RCV000132817] ChrX:154030359 [GRCh38]
ChrX:153295810 [GRCh37]
ChrX:Xq28
benign|not provided
NM_001110792.2(MECP2):c.*92C>G single nucleotide variant Rett syndrome [RCV000132818] ChrX:154030275 [GRCh38]
ChrX:153295726 [GRCh37]
ChrX:Xq28
uncertain significance|not provided
NM_001110792.2(MECP2):c.*92C>T single nucleotide variant Rett syndrome [RCV003380454]|not specified [RCV000132819] ChrX:154030275 [GRCh38]
ChrX:153295726 [GRCh37]
ChrX:Xq28
benign|uncertain significance|not provided
NM_001110792.2(MECP2):c.*93G>A single nucleotide variant not specified [RCV000132820] ChrX:154030274 [GRCh38]
ChrX:153295725 [GRCh37]
ChrX:Xq28
benign|not provided
NM_001110792.2(MECP2):c.*98dup duplication Rett syndrome [RCV000990996]|not specified [RCV000168710] ChrX:154030268..154030269 [GRCh38]
ChrX:153295719..153295720 [GRCh37]
ChrX:Xq28
benign|likely benign|not provided
NM_001110792.2(MECP2):c.*9G>A single nucleotide variant History of neurodevelopmental disorder [RCV000719347]|Rett syndrome [RCV003380455]|not provided [RCV001705936]|not specified [RCV000153483] ChrX:154030358 [GRCh38]
ChrX:153295809 [GRCh37]
ChrX:Xq28
benign|not provided
NM_001110792.2(MECP2):c.1040_1073del (p.Gly347fs) deletion not provided [RCV000132826] ChrX:154030791..154030824 [GRCh38]
ChrX:153296242..153296275 [GRCh37]
ChrX:Xq28
not provided
NM_001110792.2(MECP2):c.1045_1063del (p.Lys349fs) deletion Rett syndrome [RCV000132827] ChrX:154030801..154030819 [GRCh38]
ChrX:153296252..153296270 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.136_139del (p.Asp46fs) deletion Rett syndrome [RCV000132828]|Severe neonatal-onset encephalopathy with microcephaly [RCV001219819] ChrX:154032481..154032484 [GRCh38]
ChrX:153297932..153297935 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.1050C>T (p.Thr350=) single nucleotide variant not provided [RCV000132829] ChrX:154030814 [GRCh38]
ChrX:153296265 [GRCh37]
ChrX:Xq28
likely benign|not provided
NM_001110792.2(MECP2):c.1051T>C (p.Cys351Arg) single nucleotide variant Rett syndrome [RCV000132830] ChrX:154030813 [GRCh38]
ChrX:153296264 [GRCh37]
ChrX:Xq28
uncertain significance|not provided
NM_001110792.2(MECP2):c.1065del (p.Arg356fs) deletion Rett syndrome [RCV000445573]|not provided [RCV000132831] ChrX:154030799 [GRCh38]
ChrX:153296250 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.1065dup (p.Arg356fs) duplication not provided [RCV000132832] ChrX:154030798..154030799 [GRCh38]
ChrX:153296249..153296250 [GRCh37]
ChrX:Xq28
not provided
NM_001110792.2(MECP2):c.1066C>T (p.Arg356Trp) single nucleotide variant Rett syndrome [RCV000132833]|Severe neonatal-onset encephalopathy with microcephaly [RCV000863677]|not provided [RCV001571972] ChrX:154030798 [GRCh38]
ChrX:153296249 [GRCh37]
ChrX:Xq28
benign|likely benign|uncertain significance|not provided
NM_001110792.2(MECP2):c.1074C>G (p.Ser358Arg) single nucleotide variant Rett syndrome [RCV000132834] ChrX:154030790 [GRCh38]
ChrX:153296241 [GRCh37]
ChrX:Xq28
pathogenic|uncertain significance|not provided
NM_001110792.2(MECP2):c.1079_1092del (p.Glu360fs) deletion not provided [RCV000132835] ChrX:154030772..154030785 [GRCh38]
ChrX:153296223..153296236 [GRCh37]
ChrX:Xq28
not provided
NM_001110792.2(MECP2):c.1084_1131del (p.Ser362_Glu377del) deletion Rett syndrome [RCV000132836] ChrX:154030733..154030780 [GRCh38]
ChrX:153296184..153296231 [GRCh37]
ChrX:Xq28
uncertain significance|not provided
NM_001110792.2(MECP2):c.1087_1090del (p.Pro363fs) deletion not provided [RCV000132837] ChrX:154030774..154030777 [GRCh38]
ChrX:153296225..153296228 [GRCh37]
ChrX:Xq28
not provided
NM_001110792.2(MECP2):c.1087_1101del (p.Pro363_Ser367del) deletion Severe neonatal-onset encephalopathy with microcephaly [RCV000820888]|not provided [RCV000132838] ChrX:154030763..154030777 [GRCh38]
ChrX:153296214..153296228 [GRCh37]
ChrX:Xq28
uncertain significance|not provided
NM_001110792.2(MECP2):c.1095_1108del (p.Arg366fs) deletion not provided [RCV000132839] ChrX:154030756..154030769 [GRCh38]
ChrX:153296207..153296220 [GRCh37]
ChrX:Xq28
not provided
NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys) single nucleotide variant Angelman syndrome [RCV000169934]|Inborn genetic diseases [RCV000624907]|Intellectual disability [RCV001257757]|Neurodevelopmental delay [RCV002273925]|Rett syndrome [RCV000030666]|Rett syndrome, zappella variant [RCV000012578]|Severe neonatal-onset encephalopathy with microcephaly [RCV000460141]|X-linked intellectual disability-psychosis-macroorchidism syndrome [RCV000170107]|not provided [RCV000081202]|not specified [RCV000445570] ChrX:154031431 [GRCh38]
ChrX:153296882 [GRCh37]
ChrX:Xq28
pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001110792.2(MECP2):c.500T>C (p.Phe167Ser) single nucleotide variant Rett syndrome [RCV000012579] ChrX:154031364 [GRCh38]
ChrX:153296815 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met) single nucleotide variant Abnormality of the nervous system [RCV001813975]|Angelman syndrome [RCV000170109]|Autism, susceptibility to, X-linked 3 [RCV000169935]|Inborn genetic diseases [RCV000623451]|Neurodevelopmental delay [RCV002273926]|Rett syndrome [RCV000012580]|Severe neonatal-onset encephalopathy with microcephaly [RCV000170110]|Severe neonatal-onset encephalopathy with microcephaly [RCV000763199]|X-linked intellectual disability-psychosis-macroorchidism syndrome [RCV002247328]|not provided [RCV000133129]|not specified [RCV000507589] ChrX:154031355 [GRCh38]
ChrX:153296806 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|not provided
NM_004992.4:c.806del deletion Rett syndrome [RCV000012582]|Severe neonatal-onset encephalopathy with microcephaly [RCV000012583] ChrX:Xq28 pathogenic
NM_004992.4:c.1152_1195del deletion Rett syndrome [RCV000012584] ChrX:Xq28 pathogenic
NM_001110792.2(MECP2):c.352C>T (p.Arg118Trp) single nucleotide variant Autism, susceptibility to, X-linked 3 [RCV001195924]|Inborn genetic diseases [RCV002311513]|Rett syndrome [RCV000012585]|Severe neonatal-onset encephalopathy with microcephaly [RCV000552837]|Severe neonatal-onset encephalopathy with microcephaly [RCV003224092]|X-linked intellectual disability-psychosis-macroorchidism syndrome [RCV002247329]|not provided [RCV000255874]|not specified [RCV001000318] ChrX:154032268 [GRCh38]
ChrX:153297719 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|not provided
NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter) single nucleotide variant Autism, susceptibility to, X-linked 3 [RCV001196907]|Encephalopathy, neonatal severeMental retardation, X-linked, syndromic 13Rett syndrome [RCV000146359]|Inborn genetic diseases [RCV000624100]|Rett syndrome [RCV000012586]|Severe neonatal-onset encephalopathy with microcephaly [RCV000169940]|Severe neonatal-onset encephalopathy with microcephaly [RCV000515283]|Syndromic X-linked intellectual disability Lubs type [RCV001705588]|not provided [RCV000081212] ChrX:154031020 [GRCh38]
ChrX:153296471 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic
NM_004992.4:c.378-2A>G single nucleotide variant Rett syndrome [RCV000012587] ChrX:Xq28 pathogenic
NM_001110792.2(MECP2):c.1216G>T (p.Glu406Ter) single nucleotide variant Rett syndrome [RCV000146349]|X-linked intellectual disability-psychosis-macroorchidism syndrome [RCV000012588] ChrX:154030648 [GRCh38]
ChrX:153296099 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.203_204del (p.Pro68fs) deletion Angelman syndrome [RCV000133026]|Rett syndrome [RCV000012589] ChrX:154032416..154032417 [GRCh38]
ChrX:153297867..153297868 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter) single nucleotide variant Autism, susceptibility to, X-linked 3 [RCV000012591]|Inborn genetic diseases [RCV000624805]|MECP2-Related Disorders [RCV003335027]|Rett syndrome [RCV000012590]|See cases [RCV001420261]|Severe neonatal-onset encephalopathy with microcephaly [RCV000474366]|Severe neonatal-onset encephalopathy with microcephaly [RCV000515413]|not provided [RCV000081215] ChrX:154030948 [GRCh38]
ChrX:153296399 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic|risk factor|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_004992.4:c.1157_1197del deletion Autism, susceptibility to, X-linked 3 [RCV000012593]|Rett syndrome, zappella variant [RCV000012592] ChrX:Xq28 pathogenic|risk factor
NM_004992.4:c.1160_1200del deletion Rett syndrome [RCV000012594] ChrX:Xq28 pathogenic
MECP2, 44-BP DEL, NT1159 deletion Rett syndrome, zappella variant [RCV000012595] ChrX:Xq28 pathogenic
NM_001110792.2(MECP2):c.455C>T (p.Ala152Val) single nucleotide variant Atypical behavior [RCV001004016]|Autism, susceptibility to, X-linked 3 [RCV001197458]|Inborn genetic diseases [RCV002326676]|Intellectual disability [RCV001257756]|Motor delay [RCV000414791]|Neurodevelopmental disorder [RCV001374894]|Rett syndrome [RCV000020628]|Severe neonatal-onset encephalopathy with microcephaly [RCV000544176]|Severe neonatal-onset encephalopathy with microcephaly [RCV001249626]|Syndromic X-linked intellectual disability Lubs type [RCV002466399]|X-linked intellectual disability-psychosis-macroorchidism syndrome [RCV000012596]|not provided [RCV000224266] ChrX:154031409 [GRCh38]
ChrX:153296860 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters|not provided
NM_001110792.2(MECP2):c.952C>T (p.Arg318Cys) single nucleotide variant Angelman syndrome [RCV000202468]|Autism, susceptibility to, X-linked 3 [RCV001841244]|Inborn genetic diseases [RCV002444428]|Intellectual disability [RCV000224156]|Neurodevelopmental delay [RCV002273927]|Rett syndrome [RCV000012597]|See cases [RCV002287332]|Severe neonatal-onset encephalopathy with microcephaly [RCV000466020]|Severe neonatal-onset encephalopathy with microcephaly [RCV003224093]|not provided [RCV000081218] ChrX:154030912 [GRCh38]
ChrX:153296363 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.446A>G (p.Glu149Gly) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV001230698]|X-linked intellectual disability-psychosis-macroorchidism syndrome [RCV000012598]|not provided [RCV001566839] ChrX:154031418 [GRCh38]
ChrX:153296869 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_004992.4:c.76del deletion Rett syndrome [RCV000012599] ChrX:Xq28 pathogenic
MECP2, 14-BP DUP, NT766 duplication Rett syndrome [RCV000012600]|Rett's disorder [RCV000012600] ChrX:Xq28 pathogenic
NM_001110792.2(MECP2):c.538C>T (p.Arg180Ter) single nucleotide variant Global developmental delay [RCV000626872]|Inborn genetic diseases [RCV002311514]|Intellectual disability [RCV000224869]|MECP2-related condition [RCV003390670]|Rett syndrome [RCV000012601]|Severe neonatal-onset encephalopathy with microcephaly [RCV000545521]|not provided [RCV000133143] ChrX:154031326 [GRCh38]
ChrX:153296777 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter) single nucleotide variant Abnormality of the nervous system [RCV001813976]|Inborn genetic diseases [RCV002313706]|MECP2-Related Disorders [RCV003335028]|Neurodevelopmental delay [RCV002273928]|Rett syndrome [RCV000012602]|Severe neonatal-onset encephalopathy with microcephaly [RCV000515183]|Severe neonatal-onset encephalopathy with microcephaly [RCV000553858]|X-linked intellectual disability-psychosis-macroorchidism syndrome [RCV000169938]|not provided [RCV000081209] ChrX:154031065 [GRCh38]
ChrX:153296516 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_004992.4:c.1161_1400del deletion Mental retardation, X-linked, syndromic 13 [RCV000012603] ChrX:Xq28 pathogenic
NM_001110792.2(MECP2):c.1318G>A (p.Gly440Ser) single nucleotide variant Inborn genetic diseases [RCV002371770]|Rett syndrome [RCV002260597]|Severe neonatal-onset encephalopathy with microcephaly [RCV000012604]|not provided [RCV001719695]|not specified [RCV000132982] ChrX:154030546 [GRCh38]
ChrX:153295997 [GRCh37]
ChrX:Xq28
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|not provided
NM_004992.4:c.1159_1210del deletion Atypical Rett syndrome [RCV000012605] ChrX:Xq28 pathogenic
NM_001110792.2(MECP2):c.459C>G (p.Tyr153Ter) single nucleotide variant Angelman syndrome [RCV000133106]|Atypical Rett syndrome [RCV000012606]|Inborn genetic diseases [RCV000623504]|Rett syndrome [RCV000170108]|Severe neonatal-onset encephalopathy with microcephaly [RCV001049210]|not provided [RCV000729616] ChrX:154031405 [GRCh38]
ChrX:153296856 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.1399G>T (p.Glu467Ter) single nucleotide variant Rett syndrome [RCV000012607]|not provided [RCV000132997] ChrX:154030465 [GRCh38]
ChrX:153295916 [GRCh37]
ChrX:Xq28
pathogenic|no classifications from unflagged records|not provided
NM_001110792.2(MECP2):c.334C>G (p.Leu112Val) single nucleotide variant Rett syndrome [RCV000012608]|not provided [RCV000498874] ChrX:154032286 [GRCh38]
ChrX:153297737 [GRCh37]
ChrX:Xq28
pathogenic|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters|not provided
NG_007107.3:g.44485_44495del deletion Rett syndrome [RCV000012609] ChrX:Xq28 pathogenic
MECP2, 5-BP DUP, EX1 duplication Rett syndrome [RCV000012610]|Rett's disorder [RCV000012610] ChrX:Xq28 pathogenic
GRCh38/hg38 Xq28(chrX:153905292-154361918) copy number gain Syndromic X-linked intellectual disability Lubs type [RCV000012611] ChrX:153905292..154361918 [GRCh38]
ChrX:Xq28
pathogenic
MECP2, 1-BP DEL AND 2-BP INS indel Rett syndrome [RCV000012612]|Rett's disorder [RCV000012612] ChrX:Xq28 pathogenic
MECP2, 2-BP DEL, 488GG deletion Encephalopathy, neonatal severe, due to mecp2 mutation [RCV000012614]|Rett syndrome [RCV000012613]|Rett's disorder [RCV000012613]|Severe neonatal-onset encephalopathy with microcephaly [RCV000012614] ChrX:Xq28 pathogenic
NM_001110792.2(MECP2):c.1472C>T (p.Thr491Met) single nucleotide variant Rett syndrome [RCV003380470]|not specified [RCV000133006] ChrX:154030392 [GRCh38]
ChrX:153295843 [GRCh37]
ChrX:Xq28
benign|likely benign|not provided
NM_001110792.2(MECP2):c.1474C>T (p.Pro492Ser) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV002055851]|not specified [RCV000133007] ChrX:154030390 [GRCh38]
ChrX:153295841 [GRCh37]
ChrX:Xq28
benign|not provided
NM_001110792.2(MECP2):c.1482C>T (p.Thr494=) single nucleotide variant Rett syndrome [RCV003380471]|Severe neonatal-onset encephalopathy with microcephaly [RCV001447815]|not provided [RCV003436954]|not specified [RCV000133009] ChrX:154030382 [GRCh38]
ChrX:153295833 [GRCh37]
ChrX:Xq28
benign|likely benign|not provided
NM_001110792.2(MECP2):c.1484_*29del (p.Glu495fs) deletion not provided [RCV000133010] ChrX:154030338..154030380 [GRCh38]
ChrX:153295789..153295831 [GRCh37]
ChrX:Xq28
not provided
NM_001110792.2(MECP2):c.1485G>C (p.Glu495Asp) single nucleotide variant not provided [RCV000133011] ChrX:154030379 [GRCh38]
ChrX:153295830 [GRCh37]
ChrX:Xq28
not provided
NM_001110792.2(MECP2):c.1486_*12del (p.Arg496_Ter499del) deletion Rett syndrome [RCV000133012] ChrX:154030355..154030378 [GRCh38]
ChrX:153295806..153295829 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic|not provided
NM_001110792.2(MECP2):c.1486_1489del (p.Arg496fs) microsatellite Rett syndrome [RCV000133013] ChrX:154030375..154030378 [GRCh38]
ChrX:153295826..153295829 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.1487G>C (p.Arg496Thr) single nucleotide variant Rett syndrome [RCV003380472]|Severe neonatal-onset encephalopathy with microcephaly [RCV000863049]|not provided [RCV002055852]|not specified [RCV000146354] ChrX:154030377 [GRCh38]
ChrX:153295828 [GRCh37]
ChrX:Xq28
benign|likely benign|not provided
NM_001110792.2(MECP2):c.1488_1489dup (p.Val497fs) microsatellite Rett syndrome [RCV000133015] ChrX:154030374..154030375 [GRCh38]
ChrX:153295825..153295826 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.1490_1493del (p.Val497fs) deletion Rett syndrome [RCV000168709]|Severe neonatal-onset encephalopathy with microcephaly [RCV001042819] ChrX:154030371..154030374 [GRCh38]
ChrX:153295822..153295825 [GRCh37]
ChrX:Xq28
pathogenic|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters|not provided
NM_001110792.2(MECP2):c.1491_1492dup (p.Ser498fs) duplication Rett syndrome [RCV000133017] ChrX:154030371..154030372 [GRCh38]
ChrX:153295822..153295823 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.1495T>C (p.Ter499Arg) single nucleotide variant Rett syndrome [RCV003314564]|not provided [RCV000133018] ChrX:154030369 [GRCh38]
ChrX:153295820 [GRCh37]
ChrX:Xq28
likely pathogenic|not provided
NM_001110792.2(MECP2):c.1496G>T (p.Ter499Leu) single nucleotide variant not provided [RCV000133019] ChrX:154030368 [GRCh38]
ChrX:153295819 [GRCh37]
ChrX:Xq28
not provided
NM_001110792.2(MECP2):c.1497A>C (p.Ter499Cys) single nucleotide variant Rett syndrome [RCV000133020] ChrX:154030367 [GRCh38]
ChrX:153295818 [GRCh37]
ChrX:Xq28
likely pathogenic|uncertain significance|not provided
NM_001110792.2(MECP2):c.1497A>G (p.Ter499Trp) single nucleotide variant Rett syndrome [RCV002472325]|Severe neonatal-onset encephalopathy with microcephaly [RCV001379701]|not specified [RCV000133021] ChrX:154030367 [GRCh38]
ChrX:153295818 [GRCh37]
ChrX:Xq28
likely pathogenic|uncertain significance|not provided
NM_001110792.2(MECP2):c.182C>A (p.Ser61Ter) single nucleotide variant Rett syndrome [RCV000133022] ChrX:154032438 [GRCh38]
ChrX:153297889 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.182C>G (p.Ser61Ter) single nucleotide variant Rett syndrome [RCV000192902]|X-linked intellectual disability-psychosis-macroorchidism syndrome [RCV002243797]|not provided [RCV000133023] ChrX:154032438 [GRCh38]
ChrX:153297889 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.189C>G (p.His63Gln) single nucleotide variant Rett syndrome [RCV003483516]|Severe neonatal-onset encephalopathy with microcephaly [RCV001857482]|not specified [RCV000133024] ChrX:154032431 [GRCh38]
ChrX:153297882 [GRCh37]
ChrX:Xq28
likely benign|uncertain significance|not provided
NM_001110792.2(MECP2):c.191A>G (p.His64Arg) single nucleotide variant Rett syndrome [RCV002472326]|Severe neonatal-onset encephalopathy with microcephaly [RCV001520931]|not provided [RCV001689675]|not specified [RCV000133025] ChrX:154032429 [GRCh38]
ChrX:153297880 [GRCh37]
ChrX:Xq28
benign|uncertain significance|not provided
NM_001110792.2(MECP2):c.204C>T (p.Pro68=) single nucleotide variant Inborn genetic diseases [RCV002399509]|Rett syndrome [RCV001800449]|Severe neonatal-onset encephalopathy with microcephaly [RCV001088114]|not provided [RCV000544803]|not specified [RCV000133027] ChrX:154032416 [GRCh38]
ChrX:153297867 [GRCh37]
ChrX:Xq28
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_001110792.2(MECP2):c.225_226del (p.Glu75fs) microsatellite Rett syndrome [RCV000133028] ChrX:154032394..154032395 [GRCh38]
ChrX:153297845..153297846 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.230C>G (p.Ser77Ter) single nucleotide variant Rett syndrome [RCV000193745]|not provided [RCV000133029] ChrX:154032390 [GRCh38]
ChrX:153297841 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.237del (p.Ser80fs) deletion Rett syndrome [RCV000133030] ChrX:154032383 [GRCh38]
ChrX:153297834 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic|not provided
NM_001110792.2(MECP2):c.239C>G (p.Ser80Ter) single nucleotide variant Abnormality of the nervous system [RCV001814066]|Rett syndrome [RCV000133031] ChrX:154032381 [GRCh38]
ChrX:153297832 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic|not provided
NM_001110792.2(MECP2):c.417C>G (p.Pro139=) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV001404570]|not specified [RCV000594054] ChrX:154031447 [GRCh38]
ChrX:153296898 [GRCh37]
ChrX:Xq28
likely benign
NM_001110792.2(MECP2):c.251C>T (p.Pro84Leu) single nucleotide variant Rett syndrome [RCV001800450]|Severe neonatal-onset encephalopathy with microcephaly [RCV001034292]|not specified [RCV000133032] ChrX:154032369 [GRCh38]
ChrX:153297820 [GRCh37]
ChrX:Xq28
likely benign|uncertain significance|not provided
NM_001110792.2(MECP2):c.251_252insT (p.Ala85fs) insertion Rett syndrome [RCV000133033] ChrX:154032368..154032369 [GRCh38]
ChrX:153297819..153297820 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.251dup (p.Ala85fs) duplication Rett syndrome [RCV000133034] ChrX:154032368..154032369 [GRCh38]
ChrX:153297819..153297820 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.260C>T (p.Pro87Leu) single nucleotide variant Inborn genetic diseases [RCV002515929]|Rett syndrome [RCV000195208]|Severe neonatal-onset encephalopathy with microcephaly [RCV001414793]|not specified [RCV000133035] ChrX:154032360 [GRCh38]
ChrX:153297811 [GRCh37]
ChrX:Xq28
pathogenic|benign|likely benign|uncertain significance|not provided
NM_001110792.2(MECP2):c.261G>A (p.Pro87=) single nucleotide variant Rett syndrome [RCV001800451]|Severe neonatal-onset encephalopathy with microcephaly [RCV000645113]|not specified [RCV000133036] ChrX:154032359 [GRCh38]
ChrX:153297810 [GRCh37]
ChrX:Xq28
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_001110792.2(MECP2):c.265_274del (p.Ala89fs) deletion Rett syndrome [RCV003389404]|not provided [RCV000133037] ChrX:154032346..154032355 [GRCh38]
ChrX:153297797..153297806 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic|not provided
NM_001110792.2(MECP2):c.269del (p.Ser90fs) deletion Rett syndrome [RCV000133038] ChrX:154032351 [GRCh38]
ChrX:153297802 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.279dup (p.Lys94fs) duplication Rett syndrome [RCV000133039] ChrX:154032340..154032341 [GRCh38]
ChrX:153297791..153297792 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.281A>G (p.Lys94Arg) single nucleotide variant Rett syndrome [RCV003380473]|Severe neonatal-onset encephalopathy with microcephaly [RCV000981151]|not provided [RCV001725999]|not specified [RCV000133040] ChrX:154032339 [GRCh38]
ChrX:153297790 [GRCh37]
ChrX:Xq28
benign|likely benign|not provided
NM_001110792.2(MECP2):c.293C>G (p.Ser98Cys) single nucleotide variant Rett syndrome [RCV000133041] ChrX:154032327 [GRCh38]
ChrX:153297778 [GRCh37]
ChrX:Xq28
uncertain significance|not provided
NM_001110792.2(MECP2):c.294_295del (p.Ile99fs) deletion Rett syndrome [RCV000133042] ChrX:154032325..154032326 [GRCh38]
ChrX:153297776..153297777 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.310G>T (p.Gly104Ter) single nucleotide variant Rett syndrome [RCV000133043] ChrX:154032310 [GRCh38]
ChrX:153297761 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.311dup (p.Pro105fs) duplication Rett syndrome [RCV000133044] ChrX:154032308..154032309 [GRCh38]
ChrX:153297759..153297760 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.312_313insG (p.Pro105fs) insertion not provided [RCV000133045] ChrX:154032307..154032308 [GRCh38]
ChrX:153297758..153297759 [GRCh37]
ChrX:Xq28
not provided
NM_001110792.2(MECP2):c.313C>T (p.Pro105Ser) single nucleotide variant Rett syndrome [RCV000133046] ChrX:154032307 [GRCh38]
ChrX:153297758 [GRCh37]
ChrX:Xq28
uncertain significance|not provided
NM_001110792.2(MECP2):c.315C>T (p.Pro105=) single nucleotide variant not specified [RCV000133047] ChrX:154032305 [GRCh38]
ChrX:153297756 [GRCh37]
ChrX:Xq28
benign|not provided
NM_001110792.2(MECP2):c.325G>T (p.Asp109Tyr) single nucleotide variant Rett syndrome [RCV000133048] ChrX:154032295 [GRCh38]
ChrX:153297746 [GRCh37]
ChrX:Xq28
likely pathogenic|uncertain significance|not provided
NM_001110792.2(MECP2):c.64G>C (p.Glu22Gln) single nucleotide variant Rett syndrome [RCV000133049] ChrX:154032556 [GRCh38]
ChrX:153298007 [GRCh37]
ChrX:Xq28
uncertain significance|not provided
NM_001110792.2(MECP2):c.64G>T (p.Glu22Ter) single nucleotide variant Rett syndrome [RCV000133050] ChrX:154032556 [GRCh38]
ChrX:153298007 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic|not provided
NM_001110792.2(MECP2):c.327C>A (p.Asp109Glu) single nucleotide variant Rett syndrome [RCV000133051] ChrX:154032293 [GRCh38]
ChrX:153297744 [GRCh37]
ChrX:Xq28
uncertain significance|not provided
NM_001110792.2(MECP2):c.331_333del (p.Thr111del) deletion Rett syndrome [RCV000133052] ChrX:154032287..154032289 [GRCh38]
ChrX:153297738..153297740 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic|not provided
NM_001110792.2(MECP2):c.333C>G (p.Thr111=) single nucleotide variant Rett syndrome [RCV003380474]|not specified [RCV000133053] ChrX:154032287 [GRCh38]
ChrX:153297738 [GRCh37]
ChrX:Xq28
benign|likely benign|not provided
NM_001110792.2(MECP2):c.335T>G (p.Leu112Arg) single nucleotide variant Rett syndrome [RCV000133055] ChrX:154032285 [GRCh38]
ChrX:153297736 [GRCh37]
ChrX:Xq28
uncertain significance|not provided
NM_001110792.2(MECP2):c.337C>T (p.Pro113Ser) single nucleotide variant Rett syndrome [RCV000133056] ChrX:154032283 [GRCh38]
ChrX:153297734 [GRCh37]
ChrX:Xq28
pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_001110792.2(MECP2):c.338C>A (p.Pro113His) single nucleotide variant Rett syndrome [RCV000133057] ChrX:154032282 [GRCh38]
ChrX:153297733 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic|not provided
NM_001110792.2(MECP2):c.338C>G (p.Pro113Arg) single nucleotide variant Angelman syndrome [RCV000133058]|Rett syndrome [RCV000170238]|Severe neonatal-onset encephalopathy with microcephaly [RCV001857483] ChrX:154032282 [GRCh38]
ChrX:153297733 [GRCh37]
ChrX:Xq28
pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_001110792.2(MECP2):c.338C>T (p.Pro113Leu) single nucleotide variant Rett syndrome [RCV000133059] ChrX:154032282 [GRCh38]
ChrX:153297733 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.344G>A (p.Gly115Asp) single nucleotide variant Rett syndrome [RCV000133060]|not specified [RCV002222406] ChrX:154032276 [GRCh38]
ChrX:153297727 [GRCh37]
ChrX:Xq28
uncertain significance|not provided
NM_001110792.2(MECP2):c.346T>C (p.Trp116Arg) single nucleotide variant Rett syndrome [RCV000133061] ChrX:154032274 [GRCh38]
ChrX:153297725 [GRCh37]
ChrX:Xq28
uncertain significance|not provided
NM_001110792.2(MECP2):c.347G>A (p.Trp116Ter) single nucleotide variant Rett syndrome [RCV000133062]|Severe neonatal-onset encephalopathy with microcephaly [RCV001849958] ChrX:154032273 [GRCh38]
ChrX:153297724 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic|not provided
NM_001110792.2(MECP2):c.347_359del (p.Trp116fs) deletion Rett syndrome [RCV000133063] ChrX:154032261..154032273 [GRCh38]
ChrX:153297712..153297724 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic|not provided
NM_001110792.2(MECP2):c.351dup (p.Arg118fs) duplication Rett syndrome [RCV000133064] ChrX:154032268..154032269 [GRCh38]
ChrX:153297719..153297720 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.352C>G (p.Arg118Gly) single nucleotide variant MECP2-related condition [RCV003407558]|Rett syndrome [RCV000133065] ChrX:154032268 [GRCh38]
ChrX:153297719 [GRCh37]
ChrX:Xq28
likely pathogenic|uncertain significance|not provided
NM_001110792.2(MECP2):c.353G>A (p.Arg118Gln) single nucleotide variant Rett syndrome [RCV000133067]|X-linked intellectual disability-psychosis-macroorchidism syndrome [RCV003333738]|not provided [RCV001542086] ChrX:154032267 [GRCh38]
ChrX:153297718 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic|not provided
NM_001110792.2(MECP2):c.353G>T (p.Arg118Leu) single nucleotide variant Rett syndrome [RCV000133068]|not provided [RCV001843481] ChrX:154032267 [GRCh38]
ChrX:153297718 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic|uncertain significance|not provided
NM_001110792.2(MECP2):c.359T>A (p.Leu120His) single nucleotide variant Rett syndrome [RCV000133069] ChrX:154032261 [GRCh38]
ChrX:153297712 [GRCh37]
ChrX:Xq28
uncertain significance|not provided
NM_001110792.2(MECP2):c.362dup (p.Gln122fs) duplication Rett syndrome [RCV000133070] ChrX:154032257..154032258 [GRCh38]
ChrX:153297708..153297709 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.367A>G (p.Arg123Gly) single nucleotide variant Rett syndrome [RCV000133071] ChrX:154032253 [GRCh38]
ChrX:153297704 [GRCh37]
ChrX:Xq28
uncertain significance|not provided
NM_001110792.2(MECP2):c.370A>T (p.Lys124Ter) single nucleotide variant not provided [RCV000133072] ChrX:154032250 [GRCh38]
ChrX:153297701 [GRCh37]
ChrX:Xq28
not provided
NM_001110792.2(MECP2):c.377G>C (p.Gly126Ala) single nucleotide variant Rett syndrome [RCV000133073] ChrX:154032243 [GRCh38]
ChrX:153297694 [GRCh37]
ChrX:Xq28
uncertain significance|not provided
NM_001110792.2(MECP2):c.379C>T (p.Arg127Cys) single nucleotide variant History of neurodevelopmental disorder [RCV000715718]|Rett syndrome [RCV001800452]|Severe neonatal-onset encephalopathy with microcephaly [RCV002514765]|not provided [RCV000133074] ChrX:154032241 [GRCh38]
ChrX:153297692 [GRCh37]
ChrX:Xq28
likely pathogenic|uncertain significance|not provided
NM_001110792.2(MECP2):c.381del (p.Ser128fs) deletion Rett syndrome [RCV000133075] ChrX:154032239 [GRCh38]
ChrX:153297690 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic|not provided
NM_001110792.2(MECP2):c.394T>G (p.Tyr132Asp) single nucleotide variant Rett syndrome [RCV000133076] ChrX:154032226 [GRCh38]
ChrX:153297677 [GRCh37]
ChrX:Xq28
uncertain significance|not provided
NM_001110792.2(MECP2):c.71_78dup (p.Asp27fs) duplication Rett syndrome [RCV000133077] ChrX:154032541..154032542 [GRCh38]
ChrX:153297992..153297993 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.398A>G (p.Asp133Gly) single nucleotide variant not specified [RCV000133078] ChrX:154032222 [GRCh38]
ChrX:153297673 [GRCh37]
ChrX:Xq28
uncertain significance|not provided
NM_001110792.2(MECP2):c.400G>A (p.Val134Met) single nucleotide variant Rett syndrome [RCV000133079]|not provided [RCV000254852] ChrX:154032220 [GRCh38]
ChrX:153297671 [GRCh37]
ChrX:Xq28
pathogenic|uncertain significance|not provided
NM_001110792.2(MECP2):c.401T>C (p.Val134Ala) single nucleotide variant Rett syndrome [RCV003483517]|not specified [RCV000133080] ChrX:154032219 [GRCh38]
ChrX:153297670 [GRCh37]
ChrX:Xq28
uncertain significance|not provided
NM_001110792.2(MECP2):c.1271_1296del (p.Val424fs) deletion Rett syndrome [RCV000132974] ChrX:154030568..154030593 [GRCh38]
ChrX:153296019..153296044 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic|not provided
NM_001110792.2(MECP2):c.1274_1302del (p.Cys425fs) deletion not provided [RCV000132975] ChrX:154030562..154030590 [GRCh38]
ChrX:153296013..153296041 [GRCh37]
ChrX:Xq28
not provided
NM_001110792.2(MECP2):c.1275C>T (p.Cys425=) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV000980868]|not provided [RCV001675631]|not specified [RCV000132976] ChrX:154030589 [GRCh38]
ChrX:153296040 [GRCh37]
ChrX:Xq28
benign|likely benign|not provided
NM_001110792.2(MECP2):c.1286A>T (p.Lys429Met) single nucleotide variant Rett syndrome [RCV002472324]|Severe neonatal-onset encephalopathy with microcephaly [RCV000132977]|not provided [RCV001588991] ChrX:154030578 [GRCh38]
ChrX:153296029 [GRCh37]
ChrX:Xq28
likely benign|uncertain significance|not provided
NM_001110792.2(MECP2):c.1301_1325delinsAGCGGCCG (p.Gly434fs) indel Rett syndrome [RCV000132978] ChrX:154030539..154030563 [GRCh38]
ChrX:153295990..153296014 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.1302C>T (p.Gly434=) single nucleotide variant Rett syndrome [RCV003380465]|Severe neonatal-onset encephalopathy with microcephaly [RCV001513294]|Severe neonatal-onset encephalopathy with microcephaly [RCV002492517]|not specified [RCV000132979] ChrX:154030562 [GRCh38]
ChrX:153296013 [GRCh37]
ChrX:Xq28
benign|likely benign|not provided
NM_001110792.2(MECP2):c.162dup (p.His55fs) duplication Rett syndrome [RCV000132980] ChrX:154032457..154032458 [GRCh38]
ChrX:153297908..153297909 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.1314C>T (p.Ser438=) single nucleotide variant Rett syndrome [RCV003380466]|Severe neonatal-onset encephalopathy with microcephaly [RCV002514763]|not specified [RCV000132981] ChrX:154030550 [GRCh38]
ChrX:153296001 [GRCh37]
ChrX:Xq28
benign|likely benign|conflicting interpretations of pathogenicity|not provided
NM_001110792.2(MECP2):c.1320C>T (p.Gly440=) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV001514986]|not provided [RCV000866344]|not specified [RCV000132983] ChrX:154030544 [GRCh38]
ChrX:153295995 [GRCh37]
ChrX:Xq28
benign|likely benign|not provided
NM_001110792.2(MECP2):c.1324C>T (p.Pro442Ser) single nucleotide variant not specified [RCV000132984] ChrX:154030540 [GRCh38]
ChrX:153295991 [GRCh37]
ChrX:Xq28
benign|not provided
NM_001110792.2(MECP2):c.1344_1345del (p.Gln449fs) deletion Rett syndrome [RCV000132985]|Severe neonatal-onset encephalopathy with microcephaly [RCV000690876] ChrX:154030519..154030520 [GRCh38]
ChrX:153295970..153295971 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.1351G>A (p.Ala451Thr) single nucleotide variant Attention deficit hyperactivity disorder [RCV000170236]|Autism, susceptibility to, X-linked 3 [RCV000170237]|Inborn genetic diseases [RCV002312624]|Rett syndrome [RCV003380467]|Severe neonatal-onset encephalopathy with microcephaly [RCV001089023]|X-linked intellectual disability-psychosis-macroorchidism syndrome [RCV000132986]|not provided [RCV000471943]|not specified [RCV000146352] ChrX:154030513 [GRCh38]
ChrX:153295964 [GRCh37]
ChrX:Xq28
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_001110792.2(MECP2):c.1356dup (p.Ala453fs) duplication Rett syndrome [RCV000132987] ChrX:154030507..154030508 [GRCh38]
ChrX:153295958..153295959 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.1362_1370del (p.454TAA[1]) deletion Severe neonatal-onset encephalopathy with microcephaly [RCV001430809]|not provided [RCV000132988] ChrX:154030494..154030502 [GRCh38]
ChrX:153295945..153295953 [GRCh37]
ChrX:Xq28
likely benign|not provided
NM_001110792.2(MECP2):c.1360A>G (p.Thr454Ala) single nucleotide variant not specified [RCV000132989] ChrX:154030504 [GRCh38]
ChrX:153295955 [GRCh37]
ChrX:Xq28
uncertain significance|not provided
NM_001110792.2(MECP2):c.1360_1400del (p.Thr454fs) deletion Rett syndrome [RCV003483513]|not provided [RCV000132990] ChrX:154030464..154030504 [GRCh38]
ChrX:153295915..153295955 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.1362C>T (p.Thr454=) single nucleotide variant Rett syndrome [RCV003380468]|Severe neonatal-onset encephalopathy with microcephaly [RCV001078556]|not provided [RCV000757449]|not specified [RCV000146353] ChrX:154030502 [GRCh38]
ChrX:153295953 [GRCh37]
ChrX:Xq28
benign|not provided
NM_001110792.2(MECP2):c.1366_1378del (p.Ala456fs) deletion Rett syndrome [RCV003483514]|not provided [RCV000132992] ChrX:154030486..154030498 [GRCh38]
ChrX:153295937..153295949 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic|not provided
NM_001110792.2(MECP2):c.1375G>A (p.Ala459Thr) single nucleotide variant Inborn genetic diseases [RCV002381448]|Rett syndrome [RCV001800447]|Severe neonatal-onset encephalopathy with microcephaly [RCV001088957]|not provided [RCV000678237]|not specified [RCV000132993] ChrX:154030489 [GRCh38]
ChrX:153295940 [GRCh37]
ChrX:Xq28
benign|likely benign|uncertain significance|not provided
NM_001110792.2(MECP2):c.1376C>T (p.Ala459Val) single nucleotide variant Rett syndrome [RCV000132994]|Severe neonatal-onset encephalopathy with microcephaly [RCV002514764] ChrX:154030488 [GRCh38]
ChrX:153295939 [GRCh37]
ChrX:Xq28
benign|uncertain significance|not provided
NM_001110792.2(MECP2):c.1393C>T (p.Arg465Ter) single nucleotide variant Intellectual disability [RCV001255377]|Rett syndrome [RCV000132995]|not provided [RCV000599411] ChrX:154030471 [GRCh38]
ChrX:153295922 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.1394G>A (p.Arg465Gln) single nucleotide variant X-linked intellectual disability-psychosis-macroorchidism syndrome [RCV000132996] ChrX:154030470 [GRCh38]
ChrX:153295921 [GRCh37]
ChrX:Xq28
uncertain significance|not provided
NM_001110792.2(MECP2):c.1400_1401insC (p.Glu467fs) insertion Rett syndrome [RCV000132998] ChrX:154030463..154030464 [GRCh38]
ChrX:153295914..153295915 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.1408C>T (p.Arg470Cys) single nucleotide variant Rett syndrome [RCV003380469]|not specified [RCV000132999] ChrX:154030456 [GRCh38]
ChrX:153295907 [GRCh37]
ChrX:Xq28
benign|likely benign|not provided
NM_001110792.2(MECP2):c.1439_1444del (p.Arg480_Pro481del) deletion Rett syndrome [RCV000133002] ChrX:154030420..154030425 [GRCh38]
ChrX:153295871..153295876 [GRCh37]
ChrX:Xq28
uncertain significance|not provided
NM_001110792.2(MECP2):c.176dup (p.Pro60fs) duplication Rett syndrome [RCV000133003] ChrX:154032443..154032444 [GRCh38]
ChrX:153297894..153297895 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.1451_1452del (p.Glu484fs) microsatellite Rett syndrome [RCV003483515]|X-linked intellectual disability-psychosis-macroorchidism syndrome [RCV000133004]|not provided [RCV001818335] ChrX:154030412..154030413 [GRCh38]
ChrX:153295863..153295864 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic|not provided
NM_001110792.2(MECP2):c.1466G>C (p.Ser489Thr) single nucleotide variant Rett syndrome [RCV001800448]|Severe neonatal-onset encephalopathy with microcephaly [RCV001206116]|not specified [RCV000133005] ChrX:154030398 [GRCh38]
ChrX:153295849 [GRCh37]
ChrX:Xq28
benign|uncertain significance|not provided
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 copy number gain See cases [RCV000050889] ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq28(chrX:150036146-156022206)x3 copy number gain See cases [RCV000050946] ChrX:150036146..156022206 [GRCh38]
ChrX:149298619..155251871 [GRCh37]
ChrX:148955035..154905065 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:153929344-154367160)x3 copy number gain See cases [RCV000050852] ChrX:153929344..154367160 [GRCh38]
ChrX:153333946..153595528 [GRCh37]
ChrX:152847991..153248722 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 copy number gain See cases [RCV000050810] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000050699] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xq28(chrX:149989929-156022206)x3 copy number gain See cases [RCV000050657] ChrX:149989929..156022206 [GRCh38]
ChrX:149158160..155251871 [GRCh37]
ChrX:148908818..154905065 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss Global developmental delay [RCV000050386]|See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000050697] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xq23-28(chrX:115417992-156022206)x1 copy number loss See cases [RCV000051160] ChrX:115417992..156022206 [GRCh38]
ChrX:114652461..155251871 [GRCh37]
ChrX:114558717..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xq27.3-28(chrX:145879711-156022206)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051747]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051747]|See cases [RCV000051747] ChrX:145879711..156022206 [GRCh38]
ChrX:146715565..155251871 [GRCh37]
ChrX:144768921..154905065 [NCBI36]
ChrX:Xq27.3-28
pathogenic
GRCh38/hg38 Xq28(chrX:153296806-155699618)x1 copy number loss See cases [RCV000051750] ChrX:153296806..155699618 [GRCh38]
ChrX:152568327..154929279 [GRCh37]
ChrX:152215458..154582473 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xp11.21-q28(chrX:57372584-155996431)x1 copy number loss See cases [RCV000051665] ChrX:57372584..155996431 [GRCh38]
ChrX:57399017..155226096 [GRCh37]
ChrX:57415742..154879290 [NCBI36]
ChrX:Xp11.21-q28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:63279794-155939524)x1 copy number loss See cases [RCV000051666] ChrX:63279794..155939524 [GRCh38]
ChrX:62499671..155169188 [GRCh37]
ChrX:62416396..154822382 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xq23-28(chrX:116264813-155980575)x1 copy number loss See cases [RCV000051728] ChrX:116264813..155980575 [GRCh38]
ChrX:115396069..155210240 [GRCh37]
ChrX:115310097..154863434 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xq25-28(chrX:126537861-155996431)x1 copy number loss See cases [RCV000051729] ChrX:126537861..155996431 [GRCh38]
ChrX:125671844..155226096 [GRCh37]
ChrX:125499525..154879290 [NCBI36]
ChrX:Xq25-28
pathogenic
GRCh38/hg38 Xq22.1-28(chrX:100524562-155669954)x1 copy number loss See cases [RCV000051713] ChrX:100524562..155669954 [GRCh38]
ChrX:99779559..154785891 [GRCh37]
ChrX:99666215..154552809 [NCBI36]
ChrX:Xq22.1-28
pathogenic
GRCh38/hg38 Xq26.3-28(chrX:136956500-156020993)x1 copy number loss See cases [RCV000051732] ChrX:136956500..156020993 [GRCh38]
ChrX:136038659..155250658 [GRCh37]
ChrX:135866325..154903852 [NCBI36]
ChrX:Xq26.3-28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:140445228-155998166)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051746]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051746]|See cases [RCV000051746] ChrX:140445228..155998166 [GRCh38]
ChrX:139527393..155227831 [GRCh37]
ChrX:139355059..154881025 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 copy number gain See cases [RCV000052322] ChrX:26101..155999293 [GRCh38]
ChrX:76101..155228958 [GRCh37]
ChrX:16101..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 copy number gain See cases [RCV000052359] ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] ChrX:237659..156022362 [GRCh38]
ChrX:154326..155252027 [GRCh37]
ChrX:94326..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 copy number gain See cases [RCV000052325] ChrX:40704..156022362 [GRCh38]
ChrX:90704..155252027 [GRCh37]
ChrX:30704..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq28(chrX:153722500-154367160)x2 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052524]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052524]|See cases [RCV000052524] ChrX:153722500..154367160 [GRCh38]
ChrX:152641149..153248722 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:153769547-154394658)x2 copy number gain See cases [RCV000052525] ChrX:153769547..154394658 [GRCh38]
ChrX:152688196..153276194 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:153777340-154397779)x3 copy number gain See cases [RCV000052527] ChrX:153777340..154397779 [GRCh38]
ChrX:153333946..153626120 [GRCh37]
ChrX:152695989..153279314 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:153787044-154397779)x2 copy number gain See cases [RCV000052528] ChrX:153787044..154397779 [GRCh38]
ChrX:153333946..153626120 [GRCh37]
ChrX:152705693..153279314 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:153932045-155611794)x3 copy number gain See cases [RCV000052529] ChrX:153932045..155611794 [GRCh38]
ChrX:152850692..154494649 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:152932818-156022206)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052490]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052490]|See cases [RCV000052490] ChrX:152932818..156022206 [GRCh38]
ChrX:152173071..155251871 [GRCh37]
ChrX:151852018..154905065 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:153395425-155687381)x2 copy number gain See cases [RCV000052491] ChrX:153395425..155687381 [GRCh38]
ChrX:152314077..154570236 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:153504314-154144797)x2 copy number gain See cases [RCV000052492] ChrX:153504314..154144797 [GRCh38]
ChrX:152422966..153063464 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq25-28(chrX:123731372-155687381)x3 copy number gain See cases [RCV000052445] ChrX:123731372..155687381 [GRCh38]
ChrX:122865222..154917042 [GRCh37]
ChrX:122692903..154570236 [NCBI36]
ChrX:Xq25-28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:140226495-155687381)x2 copy number gain See cases [RCV000052471] ChrX:140226495..155687381 [GRCh38]
ChrX:139308651..154917042 [GRCh37]
ChrX:139136317..154570236 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xq28(chrX:154022066-154092314)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052550]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052550]|See cases [RCV000052550] ChrX:154022066..154092314 [GRCh38]
ChrX:152940711..153010966 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:140445228-154604471)x2 copy number gain See cases [RCV000052474] ChrX:140445228..154604471 [GRCh38]
ChrX:139527393..153832724 [GRCh37]
ChrX:139355059..153485918 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:141160282-155699618)x3 copy number gain See cases [RCV000052475] ChrX:141160282..155699618 [GRCh38]
ChrX:140254480..154929279 [GRCh37]
ChrX:140082146..154582473 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xq28(chrX:153585420-154427385)x2 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052521]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052521]|See cases [RCV000052521] ChrX:153585420..154427385 [GRCh38]
ChrX:152864376..153655730 [GRCh37]
ChrX:152504072..153308924 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:153590730-154380801)x2 copy number gain See cases [RCV000052522] ChrX:153590730..154380801 [GRCh38]
ChrX:152864376..153609161 [GRCh37]
ChrX:152509382..153262355 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:153714542-154380803)x2 copy number gain See cases [RCV000052523] ChrX:153714542..154380803 [GRCh38]
ChrX:152633191..153262357 [NCBI36]
ChrX:Xq28
pathogenic
Single allele duplication not specified [RCV000173211] ChrX:153363075..153363076 [GRCh37] benign
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001110792.2(MECP2):c.1134C>T (p.His378=) single nucleotide variant Rett syndrome [RCV000660866]|Severe neonatal-onset encephalopathy with microcephaly [RCV002530584]|not provided [RCV001584521] ChrX:154030730 [GRCh38]
ChrX:153296181 [GRCh37]
ChrX:Xq28
likely benign
NM_001110792.2(MECP2):c.898G>A (p.Val300Met) single nucleotide variant History of neurodevelopmental disorder [RCV000720695]|Rett syndrome [RCV000659841]|Severe neonatal-onset encephalopathy with microcephaly [RCV001513197] ChrX:154030966 [GRCh38]
ChrX:153296417 [GRCh37]
ChrX:Xq28
benign|likely benign
NM_001110792.2(MECP2):c.890del (p.Lys297fs) deletion Rett syndrome [RCV000659840] ChrX:154030974 [GRCh38]
ChrX:153296425 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_001110792.2(MECP2):c.*14G>A single nucleotide variant Rett syndrome [RCV000169941]|not provided [RCV000678230]|not specified [RCV000081189] ChrX:154030353 [GRCh38]
ChrX:153295804 [GRCh37]
ChrX:Xq28
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001110792.2(MECP2):c.1107C>T (p.Ser369=) single nucleotide variant Inborn genetic diseases [RCV002415578]|Rett syndrome [RCV003380410]|Severe neonatal-onset encephalopathy with microcephaly [RCV000226173]|not provided [RCV003436928]|not specified [RCV000169921] ChrX:154030757 [GRCh38]
ChrX:153296208 [GRCh37]
ChrX:Xq28
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
NM_001110792.2(MECP2):c.1162C>T (p.Pro388Ser) single nucleotide variant Inborn genetic diseases [RCV002444549]|Rett syndrome [RCV000659842]|Severe neonatal-onset encephalopathy with microcephaly [RCV000458852]|not specified [RCV000081191] ChrX:154030702 [GRCh38]
ChrX:153296153 [GRCh37]
ChrX:Xq28
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
NM_001110792.2(MECP2):c.1173C>T (p.Pro391=) single nucleotide variant History of neurodevelopmental disorder [RCV000720865]|Rett syndrome [RCV003380411]|Severe neonatal-onset encephalopathy with microcephaly [RCV001087585]|not provided [RCV000587649]|not specified [RCV000081192] ChrX:154030691 [GRCh38]
ChrX:153296142 [GRCh37]
ChrX:Xq28
benign|likely benign|not provided
NM_001110792.2(MECP2):c.1197C>T (p.Pro399=) single nucleotide variant Inborn genetic diseases [RCV002371928]|Rett syndrome [RCV000172863]|Severe neonatal-onset encephalopathy with microcephaly [RCV000864677]|not provided [RCV001705751]|not specified [RCV000081193] ChrX:154030667 [GRCh38]
ChrX:153296118 [GRCh37]
ChrX:Xq28
benign|not provided
NM_001110792.2(MECP2):c.1225G>A (p.Glu409Lys) single nucleotide variant History of neurodevelopmental disorder [RCV000716944]|Rett syndrome [RCV000202529]|Severe neonatal-onset encephalopathy with microcephaly [RCV001081987]|Severe neonatal-onset encephalopathy with microcephaly [RCV002498425]|not provided [RCV000224642]|not specified [RCV000081194] ChrX:154030639 [GRCh38]
ChrX:153296090 [GRCh37]
ChrX:Xq28
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
NM_001110792.2(MECP2):c.1233C>T (p.Pro411=) single nucleotide variant History of neurodevelopmental disorder [RCV000720763]|Rett syndrome [RCV003380412]|Severe neonatal-onset encephalopathy with microcephaly [RCV000755298]|not provided [RCV001529829]|not specified [RCV000169923] ChrX:154030631 [GRCh38]
ChrX:153296082 [GRCh37]
ChrX:Xq28
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
NM_001110792.2(MECP2):c.1269C>T (p.Ser423=) single nucleotide variant History of neurodevelopmental disorder [RCV000715138]|Rett syndrome [RCV003380413]|Severe neonatal-onset encephalopathy with microcephaly [RCV000464380]|not provided [RCV000587510]|not specified [RCV000081196] ChrX:154030595 [GRCh38]
ChrX:153296046 [GRCh37]
ChrX:Xq28
benign|conflicting data from submitters|not provided
NM_001110792.2(MECP2):c.1351G>T (p.Ala451Ser) single nucleotide variant Rett syndrome [RCV002472322]|Severe neonatal-onset encephalopathy with microcephaly [RCV001520870]|not provided [RCV000081197] ChrX:154030513 [GRCh38]
ChrX:153295964 [GRCh37]
ChrX:Xq28
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001110792.2(MECP2):c.1366G>A (p.Ala456Thr) single nucleotide variant Rett syndrome [RCV000659843]|Severe neonatal-onset encephalopathy with microcephaly [RCV001082471]|not provided [RCV000224116]|not specified [RCV000081198] ChrX:154030498 [GRCh38]
ChrX:153295949 [GRCh37]
ChrX:Xq28
benign|likely benign
NM_001110792.2(MECP2):c.1371G>A (p.Thr457=) single nucleotide variant History of neurodevelopmental disorder [RCV000719389]|Rett syndrome [RCV003380414]|Severe neonatal-onset encephalopathy with microcephaly [RCV001085261]|not provided [RCV000712281]|not specified [RCV000081199] ChrX:154030493 [GRCh38]
ChrX:153295944 [GRCh37]
ChrX:Xq28
benign|likely benign|conflicting data from submitters
NM_001110792.2(MECP2):c.1409G>A (p.Arg470His) single nucleotide variant Rett syndrome [RCV003380415]|Severe neonatal-onset encephalopathy with microcephaly [RCV000532506]|Severe neonatal-onset encephalopathy with microcephaly [RCV003227636]|not provided [RCV001705752]|not specified [RCV000081200] ChrX:154030455 [GRCh38]
ChrX:153295906 [GRCh37]
ChrX:Xq28
benign|likely benign|not provided
NM_001110792.2(MECP2):c.411C>A (p.Ile137=) single nucleotide variant History of neurodevelopmental disorder [RCV000716805]|Rett syndrome [RCV002260608]|Severe neonatal-onset encephalopathy with microcephaly [RCV001087820]|not provided [RCV000712283]|not specified [RCV000081201] ChrX:154032209 [GRCh38]
ChrX:153297660 [GRCh37]
ChrX:Xq28
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_001110792.2(MECP2):c.462C>T (p.Phe154=) single nucleotide variant Inborn genetic diseases [RCV002326797]|Severe neonatal-onset encephalopathy with microcephaly [RCV000645137]|not provided [RCV002262623]|not specified [RCV000081203] ChrX:154031402 [GRCh38]
ChrX:153296853 [GRCh37]
ChrX:Xq28
benign|likely benign
NM_001110792.2(MECP2):c.504C>G (p.Asp168Glu) single nucleotide variant Rett syndrome [RCV000169946]|Severe neonatal-onset encephalopathy with microcephaly [RCV000815972]|not provided [RCV000081204] ChrX:154031360 [GRCh38]
ChrX:153296811 [GRCh37]
ChrX:Xq28
pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001110792.2(MECP2):c.618C>T (p.Ser206=) single nucleotide variant History of neurodevelopmental disorder [RCV000718465]|Severe neonatal-onset encephalopathy with microcephaly [RCV000470805]|not provided [RCV001529048]|not specified [RCV000081205] ChrX:154031246 [GRCh38]
ChrX:153296697 [GRCh37]
ChrX:Xq28
benign|likely benign|conflicting data from submitters
NM_001110792.2(MECP2):c.644C>T (p.Thr215Met) single nucleotide variant Inborn genetic diseases [RCV002316245]|Rett syndrome [RCV001507027]|Severe neonatal-onset encephalopathy with microcephaly [RCV001079342]|not provided [RCV000232718]|not specified [RCV000081206] ChrX:154031220 [GRCh38]
ChrX:153296671 [GRCh37]
ChrX:Xq28
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001110792.2(MECP2):c.647C>G (p.Ser216Ter) single nucleotide variant Inborn genetic diseases [RCV000623044]|Rett syndrome [RCV000169936]|not provided [RCV000790737] ChrX:154031217 [GRCh38]
ChrX:153296668 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.766C>T (p.Gln256Ter) single nucleotide variant Rett syndrome [RCV000168689]|Severe neonatal-onset encephalopathy with microcephaly [RCV001854431]|not provided [RCV000178228] ChrX:154031098 [GRCh38]
ChrX:153296549 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.813C>T (p.Ala271=) single nucleotide variant Rett syndrome [RCV000225594]|Severe neonatal-onset encephalopathy with microcephaly [RCV001087780]|not provided [RCV000712285]|not specified [RCV000081210] ChrX:154031051 [GRCh38]
ChrX:153296502 [GRCh37]
ChrX:Xq28
benign|likely benign
NM_001110792.2(MECP2):c.842del (p.Gly281fs) deletion Inborn genetic diseases [RCV000624370]|Rett syndrome [RCV000168691]|See cases [RCV002251971]|Severe neonatal-onset encephalopathy with microcephaly [RCV000169939]|Severe neonatal-onset encephalopathy with microcephaly [RCV000850572]|Severe neonatal-onset encephalopathy with microcephaly [RCV003227637]|Syndromic X-linked intellectual disability Lubs type [RCV003333025]|X-linked intellectual disability-psychosis-macroorchidism syndrome [RCV000170113]|not provided [RCV000081211]|not specified [RCV001000009] ChrX:154031022 [GRCh38]
ChrX:153296473 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.851C>T (p.Pro284Leu) single nucleotide variant Rett syndrome [RCV003380416]|Severe neonatal-onset encephalopathy with microcephaly [RCV001522063]|not provided [RCV001704000]|not specified [RCV000081213] ChrX:154031013 [GRCh38]
ChrX:153296464 [GRCh37]
ChrX:Xq28
benign|likely benign|conflicting interpretations of pathogenicity|not provided
NM_001110792.2(MECP2):c.897C>T (p.Ala299=) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV000645128]|not provided [RCV001711243]|not specified [RCV000081214] ChrX:154030967 [GRCh38]
ChrX:153296418 [GRCh37]
ChrX:Xq28
benign|likely benign|uncertain significance
NM_001110792.2(MECP2):c.933C>T (p.Thr311=) single nucleotide variant History of neurodevelopmental disorder [RCV000715091]|Rett syndrome [RCV003380417]|Severe neonatal-onset encephalopathy with microcephaly [RCV001080108]|Severe neonatal-onset encephalopathy with microcephaly [RCV002490712]|not provided [RCV000712287]|not specified [RCV000081216] ChrX:154030931 [GRCh38]
ChrX:153296382 [GRCh37]
ChrX:Xq28
benign|likely benign
NM_001110792.2(MECP2):c.126G>A (p.Lys42=) single nucleotide variant not provided [RCV000081217] ChrX:154032494 [GRCh38]
ChrX:153297945 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.972C>T (p.Val324=) single nucleotide variant Rett syndrome [RCV002260609]|not provided [RCV000723612]|not specified [RCV000081219] ChrX:154030892 [GRCh38]
ChrX:153296343 [GRCh37]
ChrX:Xq28
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001110792.2(MECP2):c.6CGC[7] (p.Ala8dup) microsatellite Inborn genetic diseases [RCV002415577]|Rett syndrome [RCV002260607]|Severe neonatal-onset encephalopathy with microcephaly [RCV001081153]|not provided [RCV000079472]|not specified [RCV000170281] ChrX:154097642..154097643 [GRCh38]
ChrX:153363099..153363100 [GRCh37]
ChrX:Xq28
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
NM_001110792.2(MECP2):c.1483G>T (p.Glu495Ter) single nucleotide variant Autism, susceptibility to, X-linked 3 [RCV000119842]|Rett syndrome [RCV001507055]|not provided [RCV001582589] ChrX:154030381 [GRCh38]
ChrX:153295832 [GRCh37]
ChrX:Xq28
pathogenic|risk factor|uncertain significance
NM_001110792.2(MECP2):c.72G>C (p.Lys24Asn) single nucleotide variant Rett syndrome [RCV003389405]|not specified [RCV000133081] ChrX:154032548 [GRCh38]
ChrX:153297999 [GRCh37]
ChrX:Xq28
benign|uncertain significance|not provided
NM_001110792.2(MECP2):c.408G>C (p.Leu136Phe) single nucleotide variant Rett syndrome [RCV000133082] ChrX:154032212 [GRCh38]
ChrX:153297663 [GRCh37]
ChrX:Xq28
pathogenic|uncertain significance|not provided
NM_001110792.2(MECP2):c.408G>T (p.Leu136Phe) single nucleotide variant Rett syndrome [RCV000133083]|Severe neonatal-onset encephalopathy with microcephaly [RCV001383621] ChrX:154032212 [GRCh38]
ChrX:153297663 [GRCh37]
ChrX:Xq28
pathogenic|uncertain significance|not provided
NM_001110792.2(MECP2):c.411del (p.Asn138fs) deletion Rett syndrome [RCV000133084] ChrX:154032209 [GRCh38]
ChrX:153297660 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.416C>T (p.Pro139Leu) single nucleotide variant Rett syndrome [RCV000133085]|Severe neonatal-onset encephalopathy with microcephaly [RCV000531543] ChrX:154031448 [GRCh38]
ChrX:153296899 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic|uncertain significance|not provided
NM_001110792.2(MECP2):c.418C>T (p.Gln140Ter) single nucleotide variant Rett syndrome [RCV000133086]|Severe neonatal-onset encephalopathy with microcephaly [RCV000698528] ChrX:154031446 [GRCh38]
ChrX:153296897 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.419A>C (p.Gln140Pro) single nucleotide variant Inborn genetic diseases [RCV002362775]|Rett syndrome [RCV000133087] ChrX:154031445 [GRCh38]
ChrX:153296896 [GRCh37]
ChrX:Xq28
likely pathogenic|uncertain significance|not provided
NM_001110792.2(MECP2):c.422G>T (p.Gly141Val) single nucleotide variant Rett syndrome [RCV000133088] ChrX:154031442 [GRCh38]
ChrX:153296893 [GRCh37]
ChrX:Xq28
uncertain significance|not provided
NM_001110792.2(MECP2):c.428C>A (p.Ala143Asp) single nucleotide variant Rett syndrome [RCV000133089]|not provided [RCV003231161] ChrX:154031436 [GRCh38]
ChrX:153296887 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic|uncertain significance|not provided
NM_001110792.2(MECP2):c.429C>G (p.Ala143=) single nucleotide variant History of neurodevelopmental disorder [RCV000721058]|Rett syndrome [RCV001800453]|Severe neonatal-onset encephalopathy with microcephaly [RCV001518782]|not provided [RCV000415752]|not specified [RCV000133090] ChrX:154031435 [GRCh38]
ChrX:153296886 [GRCh37]
ChrX:Xq28
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_001110792.2(MECP2):c.433C>G (p.Arg145Gly) single nucleotide variant Rett syndrome [RCV000133091] ChrX:154031431 [GRCh38]
ChrX:153296882 [GRCh37]
ChrX:Xq28
likely pathogenic|uncertain significance|not provided
NM_001110792.2(MECP2):c.434G>A (p.Arg145His) single nucleotide variant Rett syndrome [RCV000169945]|Severe neonatal-onset encephalopathy with microcephaly [RCV002514766]|not provided [RCV000133092] ChrX:154031430 [GRCh38]
ChrX:153296881 [GRCh37]
ChrX:Xq28
pathogenic|uncertain significance|not provided
NM_001110792.2(MECP2):c.434G>T (p.Arg145Leu) single nucleotide variant Rett syndrome [RCV000133093]|not provided [RCV001565841] ChrX:154031430 [GRCh38]
ChrX:153296881 [GRCh37]
ChrX:Xq28
pathogenic|uncertain significance|not provided
NM_001110792.2(MECP2):c.436T>C (p.Ser146Pro) single nucleotide variant Rett syndrome [RCV000133094] ChrX:154031428 [GRCh38]
ChrX:153296879 [GRCh37]
ChrX:Xq28
uncertain significance|not provided
NM_001110792.2(MECP2):c.437C>G (p.Ser146Cys) single nucleotide variant Inborn genetic diseases [RCV002371979]|Rett syndrome [RCV000133095]|Severe neonatal-onset encephalopathy with microcephaly [RCV000698431]|not provided [RCV000375578] ChrX:154031427 [GRCh38]
ChrX:153296878 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|not provided
NM_001110792.2(MECP2):c.437C>T (p.Ser146Phe) single nucleotide variant Rett syndrome [RCV000133096]|not provided [RCV000255743] ChrX:154031427 [GRCh38]
ChrX:153296878 [GRCh37]
ChrX:Xq28
pathogenic|uncertain significance|not provided
NM_001110792.2(MECP2):c.439A>G (p.Lys147Glu) single nucleotide variant Inborn genetic diseases [RCV002354326]|Rett syndrome [RCV000133097]|not provided [RCV000424796] ChrX:154031425 [GRCh38]
ChrX:153296876 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic|uncertain significance|not provided
NM_001110792.2(MECP2):c.447del (p.Glu149fs) deletion Rett syndrome [RCV000133099] ChrX:154031417 [GRCh38]
ChrX:153296868 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.449T>A (p.Leu150Ter) single nucleotide variant Rett syndrome [RCV000133100] ChrX:154031415 [GRCh38]
ChrX:153296866 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic|not provided
NM_001110792.2(MECP2):c.449T>C (p.Leu150Ser) single nucleotide variant Rett syndrome [RCV000133101]|not provided [RCV001508975] ChrX:154031415 [GRCh38]
ChrX:153296866 [GRCh37]
ChrX:Xq28
uncertain significance|not provided
NM_001110792.2(MECP2):c.456del (p.Tyr153fs) deletion Rett syndrome [RCV000133103] ChrX:154031408 [GRCh38]
ChrX:153296859 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic|not provided
NM_001110792.2(MECP2):c.458A>G (p.Tyr153Cys) single nucleotide variant Rett syndrome [RCV000133104]|Severe neonatal-onset encephalopathy with microcephaly [RCV001849959] ChrX:154031406 [GRCh38]
ChrX:153296857 [GRCh37]
ChrX:Xq28
pathogenic|uncertain significance|not provided
NM_001110792.2(MECP2):c.458dup (p.Tyr153Ter) duplication not provided [RCV000133105] ChrX:154031405..154031406 [GRCh38]
ChrX:153296856..153296857 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.464_465insT (p.Glu155fs) insertion Rett syndrome [RCV000133107] ChrX:154031399..154031400 [GRCh38]
ChrX:153296850..153296851 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.466A>T (p.Lys156Ter) single nucleotide variant Rett syndrome [RCV000133108] ChrX:154031398 [GRCh38]
ChrX:153296849 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.467del (p.Lys156fs) deletion Rett syndrome [RCV000133109] ChrX:154031397 [GRCh38]
ChrX:153296848 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.1089_*2300del (p.Pro363_Ter499delinsXaa) deletion Rett syndrome [RCV001004661] ChrX:154028067..154030775 [GRCh38]
ChrX:153293518..153296226 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.727G>T (p.Gly243Trp) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV001312900] ChrX:154031137 [GRCh38]
ChrX:153296588 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.474C>T (p.Gly158=) single nucleotide variant Rett syndrome [RCV001800454]|Severe neonatal-onset encephalopathy with microcephaly [RCV000556419]|not provided [RCV000133110] ChrX:154031390 [GRCh38]
ChrX:153296841 [GRCh37]
ChrX:Xq28
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_001110792.2(MECP2):c.246C>T (p.Ser82=) single nucleotide variant History of neurodevelopmental disorder [RCV000717918]|Rett syndrome [RCV003389395]|Severe neonatal-onset encephalopathy with microcephaly [RCV000477494]|Severe neonatal-onset encephalopathy with microcephaly [RCV002492475]|not specified [RCV000169926] ChrX:154032374 [GRCh38]
ChrX:153297825 [GRCh37]
ChrX:Xq28
benign|likely benign|conflicting interpretations of pathogenicity
NM_001110792.2(MECP2):c.626C>T (p.Thr209Met) single nucleotide variant Inborn genetic diseases [RCV002316387]|Rett syndrome [RCV000225683]|Severe neonatal-onset encephalopathy with microcephaly [RCV001086086]|X-linked intellectual disability-psychosis-macroorchidism syndrome [RCV000626211]|not provided [RCV000224787]|not specified [RCV000169928] ChrX:154031238 [GRCh38]
ChrX:153296689 [GRCh37]
ChrX:Xq28
benign|likely benign|conflicting interpretations of pathogenicity
NM_001110792.2(MECP2):c.638C>T (p.Ala213Val) single nucleotide variant History of neurodevelopmental disorder [RCV000717310]|Rett syndrome [RCV000202489]|Severe neonatal-onset encephalopathy with microcephaly [RCV001083234]|Severe neonatal-onset encephalopathy with microcephaly [RCV002498620]|not provided [RCV000224215]|not specified [RCV000153477] ChrX:154031226 [GRCh38]
ChrX:153296677 [GRCh37]
ChrX:Xq28
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity
NM_001110792.2(MECP2):c.639G>A (p.Ala213=) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV000473085]|not specified [RCV000169927] ChrX:154031225 [GRCh38]
ChrX:153296676 [GRCh37]
ChrX:Xq28
benign|likely benign
NM_001110792.2(MECP2):c.876C>T (p.Ala292=) single nucleotide variant Inborn genetic diseases [RCV002444590]|Rett syndrome [RCV002260612]|Severe neonatal-onset encephalopathy with microcephaly [RCV001088291]|not provided [RCV000415963]|not specified [RCV000169929] ChrX:154030988 [GRCh38]
ChrX:153296439 [GRCh37]
ChrX:Xq28
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001110792.2(MECP2):c.879C>T (p.Ala293=) single nucleotide variant Inborn genetic diseases [RCV002312905]|Rett syndrome [RCV003380419]|Severe neonatal-onset encephalopathy with microcephaly [RCV001080832]|not provided [RCV000469217]|not specified [RCV000168695] ChrX:154030985 [GRCh38]
ChrX:153296436 [GRCh37]
ChrX:Xq28
benign
NM_001110792.2(MECP2):c.906G>A (p.Glu302=) single nucleotide variant not specified [RCV000126716] ChrX:154030958 [GRCh38]
ChrX:153296409 [GRCh37]
ChrX:Xq28
benign
NM_001110792.2(MECP2):c.1071A>G (p.Lys357=) single nucleotide variant History of neurodevelopmental disorder [RCV000716152]|Rett syndrome [RCV003380420]|Severe neonatal-onset encephalopathy with microcephaly [RCV001084528]|not provided [RCV000757450]|not specified [RCV000146347] ChrX:154030793 [GRCh38]
ChrX:153296244 [GRCh37]
ChrX:Xq28
benign
NM_001110792.2(MECP2):c.1176G>A (p.Val392=) single nucleotide variant Rett syndrome [RCV001507043]|Severe neonatal-onset encephalopathy with microcephaly [RCV001088580]|not provided [RCV000645138]|not specified [RCV000194285] ChrX:154030688 [GRCh38]
ChrX:153296139 [GRCh37]
ChrX:Xq28
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001110792.2(MECP2):c.1241C>T (p.Pro414Leu) single nucleotide variant Inborn genetic diseases [RCV002316388]|Rett syndrome [RCV002260613]|Severe neonatal-onset encephalopathy with microcephaly [RCV001088771]|Severe neonatal-onset encephalopathy with microcephaly [RCV002483250]|not provided [RCV000526298]|not specified [RCV000169924] ChrX:154030623 [GRCh38]
ChrX:153296074 [GRCh37]
ChrX:Xq28
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001110792.2(MECP2):c.1440G>A (p.Arg480=) single nucleotide variant Rett syndrome [RCV002260614]|Severe neonatal-onset encephalopathy with microcephaly [RCV001089287]|not provided [RCV000724588]|not specified [RCV000169925] ChrX:154030424 [GRCh38]
ChrX:153295875 [GRCh37]
ChrX:Xq28
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001110792.2(MECP2):c.1473G>A (p.Thr491=) single nucleotide variant Inborn genetic diseases [RCV002316389]|Severe neonatal-onset encephalopathy with microcephaly [RCV000869611]|not provided [RCV001719898]|not specified [RCV000153484] ChrX:154030391 [GRCh38]
ChrX:153295842 [GRCh37]
ChrX:Xq28
benign|likely benign|conflicting interpretations of pathogenicity
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 copy number gain See cases [RCV000133654] ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
NM_001110792.2(MECP2):c.518G>T (p.Gly173Val) single nucleotide variant Rett syndrome [RCV000133137] ChrX:154031346 [GRCh38]
ChrX:153296797 [GRCh37]
ChrX:Xq28
likely pathogenic|uncertain significance|not provided
NM_001110792.2(MECP2):c.519del (p.Arg174fs) deletion Rett syndrome [RCV000133138] ChrX:154031345 [GRCh38]
ChrX:153296796 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic|not provided
NM_001110792.2(MECP2):c.520dup (p.Arg174fs) duplication Rett syndrome [RCV000133139] ChrX:154031343..154031344 [GRCh38]
ChrX:153296794..153296795 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.524_525del (p.Gly175fs) deletion Rett syndrome [RCV000133140]|Severe neonatal-onset encephalopathy with microcephaly [RCV000170111] ChrX:154031339..154031340 [GRCh38]
ChrX:153296790..153296791 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.531del (p.Ser178fs) deletion Rett syndrome [RCV003389407]|not provided [RCV000133141] ChrX:154031333 [GRCh38]
ChrX:153296784 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic|not provided
NM_001110792.2(MECP2):c.535C>T (p.Arg179Trp) single nucleotide variant Inborn genetic diseases [RCV002336285]|Rett syndrome [RCV000193537]|See cases [RCV002252000]|Severe neonatal-onset encephalopathy with microcephaly [RCV000688107]|X-linked intellectual disability-psychosis-macroorchidism syndrome [RCV000133142]|not provided [RCV000498300] ChrX:154031329 [GRCh38]
ChrX:153296780 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_001110792.2(MECP2):c.544C>T (p.Gln182Ter) single nucleotide variant Rett syndrome [RCV000133144]|Severe neonatal-onset encephalopathy with microcephaly [RCV001219355] ChrX:154031320 [GRCh38]
ChrX:153296771 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.86dup (p.Asp29fs) duplication Rett syndrome [RCV000133145] ChrX:154032533..154032534 [GRCh38]
ChrX:153297984..153297985 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.550C>T (p.Pro184Ser) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV002515930]|X-linked intellectual disability-psychosis-macroorchidism syndrome [RCV000133146] ChrX:154031314 [GRCh38]
ChrX:153296765 [GRCh37]
ChrX:Xq28
uncertain significance|not provided
NM_001110792.2(MECP2):c.551C>T (p.Pro184Leu) single nucleotide variant Inborn genetic diseases [RCV002336286]|MECP2-related condition [RCV003398778]|Severe neonatal-onset encephalopathy with microcephaly [RCV002055854]|not specified [RCV000133147] ChrX:154031313 [GRCh38]
ChrX:153296764 [GRCh37]
ChrX:Xq28
benign|likely benign|uncertain significance|not provided
NM_001110792.2(MECP2):c.553C>G (p.Pro185Ala) single nucleotide variant Rett syndrome [RCV000133148]|Severe neonatal-onset encephalopathy with microcephaly [RCV000766084]|Severe neonatal-onset encephalopathy with microcephaly [RCV002055855]|not provided [RCV000513430] ChrX:154031311 [GRCh38]
ChrX:153296762 [GRCh37]
ChrX:Xq28
likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_001110792.2(MECP2):c.554C>G (p.Pro185Arg) single nucleotide variant Rett syndrome [RCV000192592]|Severe neonatal-onset encephalopathy with microcephaly [RCV000686598]|not specified [RCV000133149] ChrX:154031310 [GRCh38]
ChrX:153296761 [GRCh37]
ChrX:Xq28
pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_001110792.2(MECP2):c.559A>T (p.Lys187Ter) single nucleotide variant not provided [RCV000133150] ChrX:154031305 [GRCh38]
ChrX:153296756 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.563C>G (p.Pro188Arg) single nucleotide variant Rett syndrome [RCV003380475]|Severe neonatal-onset encephalopathy with microcephaly [RCV002515931]|not provided [RCV000587767]|not specified [RCV000133151] ChrX:154031301 [GRCh38]
ChrX:153296752 [GRCh37]
ChrX:Xq28
benign|likely benign|conflicting interpretations of pathogenicity|not provided
NM_001110792.2(MECP2):c.564C>G (p.Pro188=) single nucleotide variant Inborn genetic diseases [RCV002345448]|Rett syndrome [RCV001800455]|Severe neonatal-onset encephalopathy with microcephaly [RCV001520964]|not provided [RCV000133152] ChrX:154031300 [GRCh38]
ChrX:153296751 [GRCh37]
ChrX:Xq28
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_001110792.2(MECP2):c.565A>T (p.Lys189Ter) single nucleotide variant Rett syndrome [RCV003483518]|not provided [RCV000133153] ChrX:154031299 [GRCh38]
ChrX:153296750 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.567del (p.Lys189fs) deletion Rett syndrome [RCV000133154] ChrX:154031297 [GRCh38]
ChrX:153296748 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.574A>T (p.Lys192Ter) single nucleotide variant Rett syndrome [RCV000133155] ChrX:154031290 [GRCh38]
ChrX:153296741 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.578C>T (p.Ala193Val) single nucleotide variant Autism, susceptibility to, X-linked 3 [RCV000133156] ChrX:154031286 [GRCh38]
ChrX:153296737 [GRCh37]
ChrX:Xq28
uncertain significance|not provided
NM_001110792.2(MECP2):c.579_580del (p.Pro194fs) deletion Rett syndrome [RCV000133157] ChrX:154031284..154031285 [GRCh38]
ChrX:153296735..153296736 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.583G>C (p.Gly195Arg) single nucleotide variant not specified [RCV000133158] ChrX:154031281 [GRCh38]
ChrX:153296732 [GRCh37]
ChrX:Xq28
benign|not provided
NM_001110792.2(MECP2):c.590del (p.Gly197fs) deletion Rett syndrome [RCV000133159] ChrX:154031274 [GRCh38]
ChrX:153296725 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.91C>T (p.Gln31Ter) single nucleotide variant Inborn genetic diseases [RCV002316919]|Rett syndrome [RCV000133160] ChrX:154032529 [GRCh38]
ChrX:153297980 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.602del (p.Gly201fs) deletion Rett syndrome [RCV000133161] ChrX:154031262 [GRCh38]
ChrX:153296713 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.602dup (p.Arg202fs) duplication Rett syndrome [RCV000133162] ChrX:154031261..154031262 [GRCh38]
ChrX:153296712..153296713 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.603dup (p.Arg202fs) duplication Rett syndrome [RCV000133163] ChrX:154031260..154031261 [GRCh38]
ChrX:153296711..153296712 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.92dup (p.Leu33fs) duplication Rett syndrome [RCV000194653]|not provided [RCV000133164] ChrX:154032527..154032528 [GRCh38]
ChrX:153297978..153297979 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic|not provided
NM_001110792.2(MECP2):c.609C>T (p.Pro203=) single nucleotide variant Rett syndrome [RCV003380476]|not specified [RCV000133165] ChrX:154031255 [GRCh38]
ChrX:153296706 [GRCh37]
ChrX:Xq28
benign|likely benign|not provided
NM_001110792.2(MECP2):c.621C>T (p.Gly207=) single nucleotide variant Inborn genetic diseases [RCV002354327]|Severe neonatal-onset encephalopathy with microcephaly [RCV000558061]|not provided [RCV001729406]|not specified [RCV000133166] ChrX:154031243 [GRCh38]
ChrX:153296694 [GRCh37]
ChrX:Xq28
benign|likely benign|not provided
NM_001110792.2(MECP2):c.623C>G (p.Thr208Ser) single nucleotide variant History of neurodevelopmental disorder [RCV000720795]|Rett syndrome [RCV000990999]|Severe neonatal-onset encephalopathy with microcephaly [RCV000533995]|Severe neonatal-onset encephalopathy with microcephaly [RCV002498652]|not provided [RCV001529816]|not specified [RCV000133167] ChrX:154031241 [GRCh38]
ChrX:153296692 [GRCh37]
ChrX:Xq28
benign|likely benign|not provided
NM_001110792.2(MECP2):c.627G>A (p.Thr209=) single nucleotide variant Inborn genetic diseases [RCV002354328]|Rett syndrome [RCV003380477]|Severe neonatal-onset encephalopathy with microcephaly [RCV000645126]|not specified [RCV000133168] ChrX:154031237 [GRCh38]
ChrX:153296688 [GRCh37]
ChrX:Xq28
benign|likely benign|not provided
NM_001110792.2(MECP2):c.628A>T (p.Arg210Ter) single nucleotide variant Rett syndrome [RCV000133169] ChrX:154031236 [GRCh38]
ChrX:153296687 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.632C>A (p.Pro211His) single nucleotide variant Rett syndrome [RCV003483519]|Schizophrenia [RCV000133170] ChrX:154031232 [GRCh38]
ChrX:153296683 [GRCh37]
ChrX:Xq28
benign|uncertain significance|not provided
NM_001110792.2(MECP2):c.634A>T (p.Lys212Ter) single nucleotide variant Rett syndrome [RCV000133171] ChrX:154031230 [GRCh38]
ChrX:153296681 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.637dup (p.Ala213fs) duplication Rett syndrome [RCV000133172] ChrX:154031226..154031227 [GRCh38]
ChrX:153296677..153296678 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic|not provided
NM_001110792.2(MECP2):c.644_645insA (p.Ser216fs) insertion Rett syndrome [RCV000133173] ChrX:154031219..154031220 [GRCh38]
ChrX:153296670..153296671 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.645G>A (p.Thr215=) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV000527600]|not provided [RCV003436955]|not specified [RCV000133174] ChrX:154031219 [GRCh38]
ChrX:153296670 [GRCh37]
ChrX:Xq28
benign|likely benign|not provided
NM_001110792.2(MECP2):c.647_648delinsAG (p.Ser216Ter) indel Rett syndrome [RCV000133175] ChrX:154031216..154031217 [GRCh38]
ChrX:153296667..153296668 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.649G>T (p.Glu217Ter) single nucleotide variant Rett syndrome [RCV000133176] ChrX:154031215 [GRCh38]
ChrX:153296666 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.653G>A (p.Gly218Asp) single nucleotide variant not provided [RCV000133177] ChrX:154031211 [GRCh38]
ChrX:153296662 [GRCh37]
ChrX:Xq28
not provided
NM_001110792.2(MECP2):c.653G>C (p.Gly218Ala) single nucleotide variant Autism, susceptibility to, X-linked 3 [RCV000133178]|Rett syndrome [RCV002472327]|Severe neonatal-onset encephalopathy with microcephaly [RCV000457783]|not provided [RCV001711300] ChrX:154031211 [GRCh38]
ChrX:153296662 [GRCh37]
ChrX:Xq28
benign|likely benign|uncertain significance|not provided
NM_001110792.2(MECP2):c.653del (p.Gly218fs) deletion Rett syndrome [RCV000133179] ChrX:154031211 [GRCh38]
ChrX:153296662 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic|not provided
NM_001110792.2(MECP2):c.656dup (p.Gln220fs) duplication Rett syndrome [RCV000133180] ChrX:154031207..154031208 [GRCh38]
ChrX:153296658..153296659 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.658C>T (p.Gln220Ter) single nucleotide variant Rett syndrome [RCV000133181]|not provided [RCV000760380] ChrX:154031206 [GRCh38]
ChrX:153296657 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.665A>T (p.Lys222Ile) single nucleotide variant Rett syndrome [RCV000133182] ChrX:154031199 [GRCh38]
ChrX:153296650 [GRCh37]
ChrX:Xq28
uncertain significance|not provided
NM_001110792.2(MECP2):c.669G>C (p.Arg223Ser) single nucleotide variant Inborn genetic diseases [RCV002354329]|Rett syndrome [RCV003380478]|Severe neonatal-onset encephalopathy with microcephaly [RCV000645121]|not provided [RCV001719907]|not specified [RCV000133184] ChrX:154031195 [GRCh38]
ChrX:153296646 [GRCh37]
ChrX:Xq28
benign|likely benign|conflicting interpretations of pathogenicity|not provided
NM_001110792.2(MECP2):c.671_691del (p.Val224_Lys231delinsGlu) deletion Rett syndrome [RCV000133185] ChrX:154031173..154031193 [GRCh38]
ChrX:153296624..153296644 [GRCh37]
ChrX:Xq28
uncertain significance|not provided
NM_001110792.2(MECP2):c.677_689del (p.Glu226fs) deletion not provided [RCV000133186] ChrX:154031175..154031187 [GRCh38]
ChrX:153296626..153296638 [GRCh37]
ChrX:Xq28
likely pathogenic|not provided
NM_001110792.2(MECP2):c.100A>T (p.Lys34Ter) single nucleotide variant Rett syndrome [RCV000133187] ChrX:154032520 [GRCh38]
ChrX:153297971 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.687_688del (p.Gly230fs) deletion Rett syndrome [RCV000133188] ChrX:154031176..154031177 [GRCh38]
ChrX:153296627..153296628 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.690_693del (p.Lys231fs) deletion Rett syndrome [RCV000133189] ChrX:154031171..154031174 [GRCh38]
ChrX:153296622..153296625 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.696C>T (p.Leu232=) single nucleotide variant Rett syndrome [RCV003380479]|Severe neonatal-onset encephalopathy with microcephaly [RCV002514767]|not provided [RCV000842156]|not specified [RCV000168687] ChrX:154031168 [GRCh38]
ChrX:153296619 [GRCh37]
ChrX:Xq28
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters|not provided
NM_001110792.2(MECP2):c.702C>G (p.Val234=) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV000645133]|not specified [RCV000133191] ChrX:154031162 [GRCh38]
ChrX:153296613 [GRCh37]
ChrX:Xq28
benign|not provided
NM_001110792.2(MECP2):c.709C>A (p.Pro237Thr) single nucleotide variant Rett syndrome [RCV000193090]|not provided [RCV000133192] ChrX:154031155 [GRCh38]
ChrX:153296606 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic|not provided
NM_001110792.2(MECP2):c.710C>G (p.Pro237Arg) single nucleotide variant Rett syndrome [RCV000133193]|Seizure [RCV000626873]|Severe neonatal-onset encephalopathy with microcephaly [RCV000476280]|not provided [RCV001090502] ChrX:154031154 [GRCh38]
ChrX:153296605 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic|not provided
NM_001110792.2(MECP2):c.712_713insA (p.Phe238fs) insertion Rett syndrome [RCV000133195] ChrX:154031151..154031152 [GRCh38]
ChrX:153296602..153296603 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.713_714insA (p.Phe238fs) insertion Rett syndrome [RCV000133196] ChrX:154031150..154031151 [GRCh38]
ChrX:153296601..153296602 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.715C>G (p.Gln239Glu) single nucleotide variant Rett syndrome [RCV002472328]|Severe neonatal-onset encephalopathy with microcephaly [RCV001522685]|X-linked intellectual disability-psychosis-macroorchidism syndrome [RCV000133197] ChrX:154031149 [GRCh38]
ChrX:153296600 [GRCh37]
ChrX:Xq28
benign|uncertain significance|not provided
NM_001110792.2(MECP2):c.719C>G (p.Thr240Ser) single nucleotide variant History of neurodevelopmental disorder [RCV000715147]|Severe neonatal-onset encephalopathy with microcephaly [RCV000535349]|not provided [RCV001705937]|not specified [RCV000146356] ChrX:154031145 [GRCh38]
ChrX:153296596 [GRCh37]
ChrX:Xq28
benign|uncertain significance|not provided
NM_001110792.2(MECP2):c.722C>A (p.Ser241Ter) single nucleotide variant Rett syndrome [RCV000193948]|not provided [RCV000133199] ChrX:154031142 [GRCh38]
ChrX:153296593 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.722C>T (p.Ser241Leu) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV000460836]|not provided [RCV001719908]|not specified [RCV000133200] ChrX:154031142 [GRCh38]
ChrX:153296593 [GRCh37]
ChrX:Xq28
benign|likely benign|conflicting interpretations of pathogenicity|not provided
NM_001110792.2(MECP2):c.726A>C (p.Pro242=) single nucleotide variant Rett syndrome [RCV003380480]|Severe neonatal-onset encephalopathy with microcephaly [RCV001499651]|not specified [RCV000133201] ChrX:154031138 [GRCh38]
ChrX:153296589 [GRCh37]
ChrX:Xq28
benign|likely benign|not provided
NM_001110792.2(MECP2):c.731G>C (p.Gly244Ala) single nucleotide variant Rett syndrome [RCV003380481]|Severe neonatal-onset encephalopathy with microcephaly [RCV000547951]|not provided [RCV001689676]|not specified [RCV000133202] ChrX:154031133 [GRCh38]
ChrX:153296584 [GRCh37]
ChrX:Xq28
benign|not provided
NM_001110792.2(MECP2):c.731del (p.Gly244fs) deletion Rett syndrome [RCV000133203]|Severe neonatal-onset encephalopathy with microcephaly [RCV001385710]|not provided [RCV003137641] ChrX:154031133 [GRCh38]
ChrX:153296584 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.731dup (p.Lys245fs) duplication Rett syndrome [RCV000133204] ChrX:154031132..154031133 [GRCh38]
ChrX:153296583..153296584 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.732del (p.Lys245fs) deletion Rett syndrome [RCV000133205]|Severe neonatal-onset encephalopathy with microcephaly [RCV001233179] ChrX:154031132 [GRCh38]
ChrX:153296583 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.746G>T (p.Gly249Val) single nucleotide variant not provided [RCV000133206] ChrX:154031118 [GRCh38]
ChrX:153296569 [GRCh37]
ChrX:Xq28
not provided
NM_001110792.2(MECP2):c.746dup (p.Gly250fs) duplication Autism, susceptibility to, X-linked 3 [RCV003156073]|Rett syndrome [RCV000133208]|Severe neonatal-onset encephalopathy with microcephaly [RCV002515932] ChrX:154031117..154031118 [GRCh38]
ChrX:153296568..153296569 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic|not provided
NM_001110792.2(MECP2):c.751del (p.Ala251fs) deletion not provided [RCV000133209] ChrX:154031113 [GRCh38]
ChrX:153296564 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.756C>G (p.Thr252=) single nucleotide variant not specified [RCV000133210] ChrX:154031108 [GRCh38]
ChrX:153296559 [GRCh37]
ChrX:Xq28
benign|not provided
NM_001110792.2(MECP2):c.756C>T (p.Thr252=) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV001500045]|not specified [RCV000133211] ChrX:154031108 [GRCh38]
ChrX:153296559 [GRCh37]
ChrX:Xq28
benign|likely benign|conflicting interpretations of pathogenicity|not provided
NM_001110792.2(MECP2):c.756dup (p.Thr253fs) duplication Rett syndrome [RCV000133212] ChrX:154031107..154031108 [GRCh38]
ChrX:153296558..153296559 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.770_795del (p.Val257fs) deletion Rett syndrome [RCV000133213] ChrX:154031069..154031094 [GRCh38]
ChrX:153296520..153296545 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.772_773insAT (p.Met258fs) insertion Rett syndrome [RCV000133214] ChrX:154031091..154031092 [GRCh38]
ChrX:153296542..153296543 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.772_779delinsGTG (p.Met258fs) indel Rett syndrome [RCV000194193]|not provided [RCV000133215] ChrX:154031085..154031092 [GRCh38]
ChrX:153296536..153296543 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic|not provided
NM_001110792.2(MECP2):c.775del (p.Met258_Val259insTer) deletion Rett syndrome [RCV000133216] ChrX:154031089 [GRCh38]
ChrX:153296540 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.783_787dup (p.Pro263fs) duplication Rett syndrome [RCV000133217] ChrX:154031076..154031077 [GRCh38]
ChrX:153296527..153296528 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.784_785insT (p.Arg262fs) insertion Rett syndrome [RCV000133218] ChrX:154031079..154031080 [GRCh38]
ChrX:153296530..153296531 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic|not provided
NM_001110792.2(MECP2):c.784_789delinsGGCCG (p.Arg262fs) indel Rett syndrome [RCV000133219] ChrX:154031075..154031080 [GRCh38]
ChrX:153296526..153296531 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.784dup (p.Arg262fs) duplication Rett syndrome [RCV000133220]|not provided [RCV000678235] ChrX:154031079..154031080 [GRCh38]
ChrX:153296530..153296531 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.785G>A (p.Arg262His) single nucleotide variant History of neurodevelopmental disorder [RCV000721068]|MECP2-related condition [RCV003390828]|Rett syndrome [RCV001800456]|Severe neonatal-onset encephalopathy with microcephaly [RCV001231150]|not provided [RCV001588992]|not specified [RCV000133221] ChrX:154031079 [GRCh38]
ChrX:153296530 [GRCh37]
ChrX:Xq28
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_001110792.2(MECP2):c.786C>A (p.Arg262=) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV001089025]|not provided [RCV000133222] ChrX:154031078 [GRCh38]
ChrX:153296529 [GRCh37]
ChrX:Xq28
benign|likely benign|not provided
NM_001110792.2(MECP2):c.786C>T (p.Arg262=) single nucleotide variant Inborn genetic diseases [RCV002316920]|Rett syndrome [RCV003380482]|Severe neonatal-onset encephalopathy with microcephaly [RCV000528933]|not provided [RCV001711301]|not specified [RCV000146357] ChrX:154031078 [GRCh38]
ChrX:153296529 [GRCh37]
ChrX:Xq28
benign|likely benign|not provided
NM_001110792.2(MECP2):c.788C>T (p.Pro263Leu) single nucleotide variant not specified [RCV000133225] ChrX:154031076 [GRCh38]
ChrX:153296527 [GRCh37]
ChrX:Xq28
benign|not provided
NM_001110792.2(MECP2):c.788_789dup (p.Gly264fs) duplication Rett syndrome [RCV000169937]|not provided [RCV000133226] ChrX:154031074..154031075 [GRCh38]
ChrX:153296525..153296526 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.789C>T (p.Pro263=) single nucleotide variant History of neurodevelopmental disorder [RCV000719501]|Severe neonatal-onset encephalopathy with microcephaly [RCV001085738]|not provided [RCV000712284]|not specified [RCV000133227] ChrX:154031075 [GRCh38]
ChrX:153296526 [GRCh37]
ChrX:Xq28
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_001110792.2(MECP2):c.789del (p.Gly264fs) deletion MECP2-Related Disorders [RCV003335128]|Rett syndrome [RCV000133228]|not provided [RCV000724123] ChrX:154031075 [GRCh38]
ChrX:153296526 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.789dup (p.Gly264fs) duplication Rett syndrome [RCV000133229]|Severe neonatal-onset encephalopathy with microcephaly [RCV000170112]|not provided [RCV000144424] ChrX:154031074..154031075 [GRCh38]
ChrX:153296525..153296526 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic|not provided
NM_001110792.2(MECP2):c.791del (p.Gly264fs) deletion Rett syndrome [RCV000133230] ChrX:154031073 [GRCh38]
ChrX:153296524 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.791dup (p.Arg265fs) duplication Rett syndrome [RCV000133231] ChrX:154031072..154031073 [GRCh38]
ChrX:153296523..153296524 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.792_795del (p.Arg265fs) deletion Rett syndrome [RCV000133232] ChrX:154031069..154031072 [GRCh38]
ChrX:153296520..153296523 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.792_799dup (p.Arg267fs) duplication Rett syndrome [RCV000133233] ChrX:154031064..154031065 [GRCh38]
ChrX:153296515..153296516 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.796A>T (p.Lys266Ter) single nucleotide variant not provided [RCV000133234] ChrX:154031068 [GRCh38]
ChrX:153296519 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.802_815dup (p.Asp272fs) duplication Rett syndrome [RCV000133235] ChrX:154031048..154031049 [GRCh38]
ChrX:153296499..153296500 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.112del (p.Leu38fs) deletion Rett syndrome [RCV000133236]|X-linked intellectual disability-psychosis-macroorchidism syndrome [RCV001808401] ChrX:154032508 [GRCh38]
ChrX:153297959 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.820C>T (p.Gln274Ter) single nucleotide variant MECP2-related condition [RCV003422031]|Rett syndrome [RCV000133237] ChrX:154031044 [GRCh38]
ChrX:153296495 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.828_829del (p.Pro277fs) deletion Rett syndrome [RCV000133238] ChrX:154031035..154031036 [GRCh38]
ChrX:153296486..153296487 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic|not provided
NM_001110792.2(MECP2):c.831C>G (p.Pro277=) single nucleotide variant Rett syndrome [RCV003380483]|not provided [RCV001650988]|not specified [RCV000133239] ChrX:154031033 [GRCh38]
ChrX:153296484 [GRCh37]
ChrX:Xq28
benign|likely benign|not provided
NM_001110792.2(MECP2):c.835A>T (p.Lys279Ter) single nucleotide variant Rett syndrome [RCV000133240] ChrX:154031029 [GRCh38]
ChrX:153296480 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.838C>T (p.Arg280Trp) single nucleotide variant Rett syndrome [RCV001800457]|Severe neonatal-onset encephalopathy with microcephaly [RCV000707260]|Severe neonatal-onset encephalopathy with microcephaly [RCV000766083]|X-linked intellectual disability-psychosis-macroorchidism syndrome [RCV001284746]|not provided [RCV000133241] ChrX:154031026 [GRCh38]
ChrX:153296477 [GRCh37]
ChrX:Xq28
likely benign|uncertain significance|not provided
NM_001110792.2(MECP2):c.844C>G (p.Arg282Gly) single nucleotide variant not provided [RCV000133242] ChrX:154031020 [GRCh38]
ChrX:153296471 [GRCh37]
ChrX:Xq28
not provided
NM_001110792.2(MECP2):c.844del (p.Arg282fs) deletion Rett syndrome [RCV000168692]|Severe neonatal-onset encephalopathy with microcephaly [RCV000133243]|not provided [RCV001008096] ChrX:154031020 [GRCh38]
ChrX:153296471 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.846_849del (p.Lys283fs) deletion Rett syndrome [RCV000133244] ChrX:154031015..154031018 [GRCh38]
ChrX:153296466..153296469 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.848_854del (p.Lys283fs) deletion Rett syndrome [RCV000133245] ChrX:154031010..154031016 [GRCh38]
ChrX:153296461..153296467 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic|not provided
NM_001110792.2(MECP2):c.852_868del (p.Gly285fs) deletion Rett syndrome [RCV000133247] ChrX:154030996..154031012 [GRCh38]
ChrX:153296447..153296463 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.855G>T (p.Gly285=) single nucleotide variant Inborn genetic diseases [RCV002426696]|Rett syndrome [RCV000172862]|Severe neonatal-onset encephalopathy with microcephaly [RCV001079813]|not provided [RCV000712286]|not specified [RCV000133248] ChrX:154031009 [GRCh38]
ChrX:153296460 [GRCh37]
ChrX:Xq28
benign|not provided
NM_001110792.2(MECP2):c.855del (p.Ser286fs) deletion not provided [RCV000133249] ChrX:154031009 [GRCh38]
ChrX:153296460 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.866del (p.Ala289fs) deletion Rett syndrome [RCV000133250] ChrX:154030998 [GRCh38]
ChrX:153296449 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.870C>T (p.Ala290=) single nucleotide variant History of neurodevelopmental disorder [RCV000716695]|Severe neonatal-onset encephalopathy with microcephaly [RCV001080240]|not provided [RCV000589640]|not specified [RCV000168694] ChrX:154030994 [GRCh38]
ChrX:153296445 [GRCh37]
ChrX:Xq28
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters|not provided
NM_001110792.2(MECP2):c.872C>T (p.Ala291Val) single nucleotide variant Rett syndrome [RCV000133252]|Severe neonatal-onset encephalopathy with microcephaly [RCV002274929] ChrX:154030992 [GRCh38]
ChrX:153296443 [GRCh37]
ChrX:Xq28
uncertain significance|not provided
NM_001110792.2(MECP2):c.885C>G (p.Ala295=) single nucleotide variant Inborn genetic diseases [RCV002312955]|Severe neonatal-onset encephalopathy with microcephaly [RCV000462569]|not provided [RCV001705938]|not specified [RCV000146346] ChrX:154030979 [GRCh38]
ChrX:153296430 [GRCh37]
ChrX:Xq28
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters|not provided
NM_001110792.2(MECP2):c.886A>G (p.Lys296Glu) single nucleotide variant X-linked intellectual disability-psychosis-macroorchidism syndrome [RCV000133254] ChrX:154030978 [GRCh38]
ChrX:153296429 [GRCh37]
ChrX:Xq28
uncertain significance|not provided
NM_001110792.2(MECP2):c.890dup (p.Lys298fs) duplication not provided [RCV000133255] ChrX:154030973..154030974 [GRCh38]
ChrX:153296424..153296425 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.892_895del (p.Lys298fs) microsatellite Inborn genetic diseases [RCV001265859]|Rett syndrome [RCV000168696]|Severe neonatal-onset encephalopathy with microcephaly [RCV000816077] ChrX:154030969..154030972 [GRCh38]
ChrX:153296420..153296423 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.893A>G (p.Lys298Arg) single nucleotide variant Rett syndrome [RCV003483520]|not specified [RCV000133257] ChrX:154030971 [GRCh38]
ChrX:153296422 [GRCh37]
ChrX:Xq28
uncertain significance|not provided
NM_001110792.2(MECP2):c.895G>C (p.Ala299Pro) single nucleotide variant Rett syndrome [RCV000133258]|Severe neonatal-onset encephalopathy with microcephaly [RCV000794396]|not specified [RCV000417939] ChrX:154030969 [GRCh38]
ChrX:153296420 [GRCh37]
ChrX:Xq28
benign|likely benign|uncertain significance|not provided
NM_001110792.2(MECP2):c.900dup (p.Lys301fs) duplication Rett syndrome [RCV003380484]|not provided [RCV000133259] ChrX:154030963..154030964 [GRCh38]
ChrX:153296414..153296415 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic|not provided
NM_001110792.2(MECP2):c.901A>T (p.Lys301Ter) single nucleotide variant Rett syndrome [RCV000133260] ChrX:154030963 [GRCh38]
ChrX:153296414 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic|not provided
NM_001110792.2(MECP2):c.901_902del (p.Lys301fs) deletion Rett syndrome [RCV000133261] ChrX:154030962..154030963 [GRCh38]
ChrX:153296413..153296414 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.905dup (p.Ser303fs) duplication Rett syndrome [RCV000133262] ChrX:154030958..154030959 [GRCh38]
ChrX:153296409..153296410 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.907T>G (p.Ser303Ala) single nucleotide variant Rett syndrome [RCV000133263] ChrX:154030957 [GRCh38]
ChrX:153296408 [GRCh37]
ChrX:Xq28
uncertain significance|not provided
NM_001110792.2(MECP2):c.910_911insA (p.Ser304fs) insertion Rett syndrome [RCV000133264] ChrX:154030953..154030954 [GRCh38]
ChrX:153296404..153296405 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.916_920del (p.Arg306fs) deletion Rett syndrome [RCV000133265] ChrX:154030944..154030948 [GRCh38]
ChrX:153296395..153296399 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic|not provided
NM_001110792.2(MECP2):c.917G>C (p.Arg306Pro) single nucleotide variant not specified [RCV000133266] ChrX:154030947 [GRCh38]
ChrX:153296398 [GRCh37]
ChrX:Xq28
benign|not provided
NM_001110792.2(MECP2):c.917_938del (p.Arg306fs) deletion Rett syndrome [RCV000133267] ChrX:154030926..154030947 [GRCh38]
ChrX:153296377..153296398 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.919del (p.Ser307fs) deletion Rett syndrome [RCV000133268] ChrX:154030945 [GRCh38]
ChrX:153296396 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.925C>T (p.Gln309Ter) single nucleotide variant Rett syndrome [RCV000133269]|Severe neonatal-onset encephalopathy with microcephaly [RCV000688413] ChrX:154030939 [GRCh38]
ChrX:153296390 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.934_937del (p.Val312fs) deletion Rett syndrome [RCV000133271] ChrX:154030927..154030930 [GRCh38]
ChrX:153296378..153296381 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.934_940del (p.Val312fs) deletion Rett syndrome [RCV000133272] ChrX:154030924..154030930 [GRCh38]
ChrX:153296375..153296381 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.934del (p.Val312fs) deletion Rett syndrome [RCV000133273] ChrX:154030930 [GRCh38]
ChrX:153296381 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic|not provided
NM_001110792.2(MECP2):c.936_944del (p.Leu313_Ile315del) deletion Rett syndrome [RCV000133274] ChrX:154030920..154030928 [GRCh38]
ChrX:153296371..153296379 [GRCh37]
ChrX:Xq28
uncertain significance|not provided
NM_001110792.2(MECP2):c.939C>T (p.Leu313=) single nucleotide variant Rett syndrome [RCV003380485]|not specified [RCV000133275] ChrX:154030925 [GRCh38]
ChrX:153296376 [GRCh37]
ChrX:Xq28
benign|likely benign|not provided
NM_001110792.2(MECP2):c.940C>A (p.Pro314Thr) single nucleotide variant Rett syndrome [RCV000133276] ChrX:154030924 [GRCh38]
ChrX:153296375 [GRCh37]
ChrX:Xq28
uncertain significance|not provided
NM_001110792.2(MECP2):c.940C>G (p.Pro314Ala) single nucleotide variant Rett syndrome [RCV000133277]|X-linked intellectual disability-psychosis-macroorchidism syndrome [RCV002247514] ChrX:154030924 [GRCh38]
ChrX:153296375 [GRCh37]
ChrX:Xq28
pathogenic|uncertain significance|not provided
NM_001110792.2(MECP2):c.940C>T (p.Pro314Ser) single nucleotide variant Rett syndrome [RCV000133278]|Severe neonatal-onset encephalopathy with microcephaly [RCV001067586]|not provided [RCV001812116] ChrX:154030924 [GRCh38]
ChrX:153296375 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic|uncertain significance|not provided
NM_001110792.2(MECP2):c.941C>A (p.Pro314His) single nucleotide variant Rett syndrome [RCV000133279]|Severe neonatal-onset encephalopathy with microcephaly [RCV001237156]|not provided [RCV001571974] ChrX:154030923 [GRCh38]
ChrX:153296374 [GRCh37]
ChrX:Xq28
pathogenic|uncertain significance|not provided
NM_001110792.2(MECP2):c.941C>G (p.Pro314Arg) single nucleotide variant Rett syndrome [RCV000133280]|Severe neonatal-onset encephalopathy with microcephaly [RCV002515933]|not provided [RCV003114287] ChrX:154030923 [GRCh38]
ChrX:153296374 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic|not provided
NM_001110792.2(MECP2):c.941C>T (p.Pro314Leu) single nucleotide variant Rett syndrome [RCV000133281]|Severe neonatal-onset encephalopathy with microcephaly [RCV000754784]|not provided [RCV000413239] ChrX:154030923 [GRCh38]
ChrX:153296374 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_001110792.2(MECP2):c.942C>G (p.Pro314=) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV001395758]|not specified [RCV000133282] ChrX:154030922 [GRCh38]
ChrX:153296373 [GRCh37]
ChrX:Xq28
benign|likely benign|not provided
NM_001110792.2(MECP2):c.942del (p.Ile315fs) deletion Rett syndrome [RCV000133283] ChrX:154030922 [GRCh38]
ChrX:153296373 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.944T>G (p.Ile315Ser) single nucleotide variant Rett syndrome [RCV000133284] ChrX:154030920 [GRCh38]
ChrX:153296371 [GRCh37]
ChrX:Xq28
uncertain significance|not provided
NM_001110792.2(MECP2):c.946A>G (p.Lys316Glu) single nucleotide variant Rett syndrome [RCV000133286]|not provided [RCV001564211] ChrX:154030918 [GRCh38]
ChrX:153296369 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic|uncertain significance|not provided
NM_001110792.2(MECP2):c.947A>G (p.Lys316Arg) single nucleotide variant not specified [RCV000133287] ChrX:154030917 [GRCh38]
ChrX:153296368 [GRCh37]
ChrX:Xq28
uncertain significance|not provided
NM_001110792.2(MECP2):c.949A>G (p.Lys317Glu) single nucleotide variant Rett syndrome [RCV000133288] ChrX:154030915 [GRCh38]
ChrX:153296366 [GRCh37]
ChrX:Xq28
uncertain significance|not provided
NM_001110792.2(MECP2):c.950A>G (p.Lys317Arg) single nucleotide variant Rett syndrome [RCV000133289]|Severe neonatal-onset encephalopathy with microcephaly [RCV002515934] ChrX:154030914 [GRCh38]
ChrX:153296365 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic|uncertain significance|not provided
NM_001110792.2(MECP2):c.953G>A (p.Arg318His) single nucleotide variant Neurodevelopmental disorder [RCV001778753]|Rett syndrome [RCV000133290]|Severe neonatal-onset encephalopathy with microcephaly [RCV001857484]|not provided [RCV000256087] ChrX:154030911 [GRCh38]
ChrX:153296362 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|not provided
NM_001110792.2(MECP2):c.953G>T (p.Arg318Leu) single nucleotide variant Rett syndrome [RCV001420142]|not provided [RCV000133291] ChrX:154030911 [GRCh38]
ChrX:153296362 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.127del (p.Lys42_Val43insTer) deletion Rett syndrome [RCV000133292] ChrX:154032493 [GRCh38]
ChrX:153297944 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic|not provided
NM_001110792.2(MECP2):c.961C>T (p.Arg321Trp) single nucleotide variant Autism, susceptibility to, X-linked 3 [RCV000170240]|Inborn genetic diseases [RCV000624661]|Intellectual disability [RCV000851523]|Rett syndrome [RCV000170241]|Severe neonatal-onset encephalopathy with microcephaly [RCV001049007]|X-linked intellectual disability-psychosis-macroorchidism syndrome [RCV000169947]|not provided [RCV000133293] ChrX:154030903 [GRCh38]
ChrX:153296354 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_001110792.2(MECP2):c.978C>T (p.Ile326=) single nucleotide variant History of neurodevelopmental disorder [RCV000717800]|Rett syndrome [RCV003380486]|Severe neonatal-onset encephalopathy with microcephaly [RCV000472062]|Severe neonatal-onset encephalopathy with microcephaly [RCV002492518]|not provided [RCV001682841]|not specified [RCV000133295] ChrX:154030886 [GRCh38]
ChrX:153296337 [GRCh37]
ChrX:Xq28
benign|likely benign|conflicting interpretations of pathogenicity|not provided
NM_001110792.2(MECP2):c.984C>G (p.Val328=) single nucleotide variant Rett syndrome [RCV003380487]|Severe neonatal-onset encephalopathy with microcephaly [RCV001504798]|not specified [RCV000133296] ChrX:154030880 [GRCh38]
ChrX:153296331 [GRCh37]
ChrX:Xq28
benign|likely benign|not provided
NM_001110792.2(MECP2):c.989A>C (p.Glu330Ala) single nucleotide variant Rett syndrome [RCV000169948]|not provided [RCV000133297] ChrX:154030875 [GRCh38]
ChrX:153296326 [GRCh37]
ChrX:Xq28
uncertain significance|not provided
NM_001110792.2(MECP2):c.1000C>G (p.Pro334Ala) single nucleotide variant Rett syndrome [RCV000169949]|not provided [RCV002262751] ChrX:154030864 [GRCh38]
ChrX:153296315 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic|uncertain significance|not provided
NM_001110792.2(MECP2):c.1001C>T (p.Pro334Leu) single nucleotide variant Rett syndrome [RCV000133300]|Severe neonatal-onset encephalopathy with microcephaly [RCV001849960]|not provided [RCV000414666] ChrX:154030863 [GRCh38]
ChrX:153296314 [GRCh37]
ChrX:Xq28
pathogenic|uncertain significance|not provided
NM_001110792.2(MECP2):c.1001_1006del (p.Pro334_Leu335del) deletion not provided [RCV000133301] ChrX:154030858..154030863 [GRCh38]
ChrX:153296309..153296314 [GRCh37]
ChrX:Xq28
not provided
NM_001110792.2(MECP2):c.1018C>G (p.Leu340Val) single nucleotide variant Rett syndrome [RCV000133302]|Severe neonatal-onset encephalopathy with microcephaly [RCV001372487]|not provided [RCV001753520] ChrX:154030846 [GRCh38]
ChrX:153296297 [GRCh37]
ChrX:Xq28
uncertain significance|not provided
NM_001110792.2(MECP2):c.1020C>A (p.Leu340=) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV002514768]|not specified [RCV000133303] ChrX:154030844 [GRCh38]
ChrX:153296295 [GRCh37]
ChrX:Xq28
benign|likely benign|not provided
NM_001110792.2(MECP2):c.1020C>T (p.Leu340=) single nucleotide variant Inborn genetic diseases [RCV002381449]|Rett syndrome [RCV003380488]|Severe neonatal-onset encephalopathy with microcephaly [RCV000863441]|not provided [RCV001705939]|not specified [RCV000168697] ChrX:154030844 [GRCh38]
ChrX:153296295 [GRCh37]
ChrX:Xq28
benign|likely benign|not provided
NM_001110792.2(MECP2):c.1021G>A (p.Gly341Ser) single nucleotide variant Rett syndrome [RCV003380489]|Severe neonatal-onset encephalopathy with microcephaly [RCV001518051]|not specified [RCV000133305] ChrX:154030843 [GRCh38]
ChrX:153296294 [GRCh37]
ChrX:Xq28
benign|not provided
NM_001110792.2(MECP2):c.1025_1030delinsGCATCTTCTCCTCTTT (p.Glu342fs) indel Rett syndrome [RCV000133306] ChrX:154030834..154030839 [GRCh38]
ChrX:153296285..153296290 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.1028A>G (p.Lys343Arg) single nucleotide variant Rett syndrome [RCV003389408]|Severe neonatal-onset encephalopathy with microcephaly [RCV001512172]|not specified [RCV000133307] ChrX:154030836 [GRCh38]
ChrX:153296287 [GRCh37]
ChrX:Xq28
benign|uncertain significance|not provided
NM_001110792.2(MECP2):c.1025AGA[1] (p.Lys343del) microsatellite not provided [RCV000133308] ChrX:154030834..154030836 [GRCh38]
ChrX:153296285..153296287 [GRCh37]
ChrX:Xq28
not provided
NM_001110792.2(MECP2):c.1030_1034del (p.Ser344fs) deletion Rett syndrome [RCV000133309] ChrX:154030830..154030834 [GRCh38]
ChrX:153296281..153296285 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic|not provided
NM_001110792.2(MECP2):c.1032C>T (p.Ser344=) single nucleotide variant Inborn genetic diseases [RCV002312956]|Rett syndrome [RCV003380490]|Severe neonatal-onset encephalopathy with microcephaly [RCV001086747]|not provided [RCV000418955]|not specified [RCV000133310] ChrX:154030832 [GRCh38]
ChrX:153296283 [GRCh37]
ChrX:Xq28
benign|likely benign|conflicting interpretations of pathogenicity|not provided
NM_001110792.2(MECP2):c.1035G>T (p.Gly345=) single nucleotide variant not specified [RCV000133311] ChrX:154030829 [GRCh38]
ChrX:153296280 [GRCh37]
ChrX:Xq28
benign|not provided
GRCh37/hg19 Xq27.1-28(chrX:139586015-154774957) copy number gain Syndromic X-linked intellectual disability Lubs type [RCV003214133] ChrX:139586015..154774957 [GRCh37]
ChrX:Xq27.1-28
pathogenic
NM_001110792.2(MECP2):c.475G>A (p.Asp159Asn) single nucleotide variant not specified [RCV000133111] ChrX:154031389 [GRCh38]
ChrX:153296840 [GRCh37]
ChrX:Xq28
benign|not provided
NM_001110792.2(MECP2):c.475del (p.Asp159fs) deletion Rett syndrome [RCV000133112] ChrX:154031389 [GRCh38]
ChrX:153296840 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.487del (p.Asp163fs) deletion Rett syndrome [RCV000133113] ChrX:154031377 [GRCh38]
ChrX:153296828 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic|not provided
NM_001110792.2(MECP2):c.488A>G (p.Asp163Gly) single nucleotide variant Rett syndrome [RCV000133114]|Severe neonatal-onset encephalopathy with microcephaly [RCV000801156] ChrX:154031376 [GRCh38]
ChrX:153296827 [GRCh37]
ChrX:Xq28
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_001110792.2(MECP2):c.491C>G (p.Pro164Arg) single nucleotide variant Inborn genetic diseases [RCV002326847]|Rett syndrome [RCV000133116]|Severe neonatal-onset encephalopathy with microcephaly [RCV000801154]|Severe neonatal-onset encephalopathy with microcephaly [RCV003224165]|X-linked intellectual disability-psychosis-macroorchidism syndrome [RCV002247513]|not provided [RCV000254929]|not specified [RCV000445575] ChrX:154031373 [GRCh38]
ChrX:153296824 [GRCh37]
ChrX:Xq28
pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_001110792.2(MECP2):c.499T>A (p.Phe167Ile) single nucleotide variant Rett syndrome [RCV000133117] ChrX:154031365 [GRCh38]
ChrX:153296816 [GRCh37]
ChrX:Xq28
uncertain significance|not provided
NM_001110792.2(MECP2):c.500T>G (p.Phe167Cys) single nucleotide variant Rett syndrome [RCV000170275]|not provided [RCV000133119] ChrX:154031364 [GRCh38]
ChrX:153296815 [GRCh37]
ChrX:Xq28
uncertain significance|no classifications from unflagged records|not provided
NM_001110792.2(MECP2):c.503A>C (p.Asp168Ala) single nucleotide variant Rett syndrome [RCV000133120] ChrX:154031361 [GRCh38]
ChrX:153296812 [GRCh37]
ChrX:Xq28
likely pathogenic|uncertain significance|not provided
NM_001110792.2(MECP2):c.503A>G (p.Asp168Gly) single nucleotide variant Inborn genetic diseases [RCV001267441]|Rett syndrome [RCV000133121] ChrX:154031361 [GRCh38]
ChrX:153296812 [GRCh37]
ChrX:Xq28
pathogenic|uncertain significance|not provided
NM_001110792.2(MECP2):c.504C>T (p.Asp168=) single nucleotide variant not provided [RCV000133122] ChrX:154031360 [GRCh38]
ChrX:153296811 [GRCh37]
ChrX:Xq28
not provided
NM_001110792.2(MECP2):c.505T>A (p.Phe169Ile) single nucleotide variant Rett syndrome [RCV000170239]|Severe neonatal-onset encephalopathy with microcephaly [RCV000133123]|not provided [RCV001815200] ChrX:154031359 [GRCh38]
ChrX:153296810 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic|uncertain significance|not provided
NM_001110792.2(MECP2):c.82C>T (p.Gln28Ter) single nucleotide variant Rett syndrome [RCV003389406]|not provided [RCV000133124] ChrX:154032538 [GRCh38]
ChrX:153297989 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.506_507del (p.Phe169fs) deletion Rett syndrome [RCV000133125] ChrX:154031357..154031358 [GRCh38]
ChrX:153296808..153296809 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.506dup (p.Thr170fs) duplication Rett syndrome [RCV000133126] ChrX:154031357..154031358 [GRCh38]
ChrX:153296808..153296809 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic|not provided
NM_001110792.2(MECP2):c.507C>G (p.Phe169Leu) single nucleotide variant Rett syndrome [RCV000133127]|Severe neonatal-onset encephalopathy with microcephaly [RCV001385711] ChrX:154031357 [GRCh38]
ChrX:153296808 [GRCh37]
ChrX:Xq28
pathogenic|uncertain significance|not provided
NM_001110792.2(MECP2):c.508A>G (p.Thr170Ala) single nucleotide variant Rett syndrome [RCV000133128]|not provided [RCV000482544] ChrX:154031356 [GRCh38]
ChrX:153296807 [GRCh37]
ChrX:Xq28
pathogenic|uncertain significance|not provided
NM_001110792.2(MECP2):c.510G>A (p.Thr170=) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV002055853]|not provided [RCV001090503]|not specified [RCV000133130] ChrX:154031354 [GRCh38]
ChrX:153296805 [GRCh37]
ChrX:Xq28
benign|likely benign|not provided
NM_001110792.2(MECP2):c.511del (p.Thr170_Val171insTer) deletion Rett syndrome [RCV000133131] ChrX:154031353 [GRCh38]
ChrX:153296804 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic|not provided
NM_001110792.2(MECP2):c.515C>G (p.Thr172Ser) single nucleotide variant Autism, susceptibility to, X-linked 3 [RCV000133132]|Rett syndrome [RCV001332544] ChrX:154031349 [GRCh38]
ChrX:153296800 [GRCh37]
ChrX:Xq28
conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_001110792.2(MECP2):c.516_517del (p.Gly173fs) deletion Rett syndrome [RCV000133133]|not provided [RCV000255199] ChrX:154031347..154031348 [GRCh38]
ChrX:153296798..153296799 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.516del (p.Arg174fs) deletion Rett syndrome [RCV000133134] ChrX:154031348 [GRCh38]
ChrX:153296799 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_001110792.2(MECP2):c.517G>T (p.Gly173Trp) single nucleotide variant Rett syndrome [RCV000133135] ChrX:154031347 [GRCh38]
ChrX:153296798 [GRCh37]
ChrX:Xq28
likely pathogenic|uncertain significance|not provided
NM_001110792.2(MECP2):c.518G>A (p.Gly173Glu) single nucleotide variant Rett syndrome [RCV000133136] ChrX:154031346 [GRCh38]
ChrX:153296797 [GRCh37]
ChrX:Xq28
uncertain significance|not provided
NM_001110792.2(MECP2):c.1202dup (p.Pro402fs) duplication not provided [RCV000178225] ChrX:154030661..154030662 [GRCh38]
ChrX:153296112..153296113 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.6CGC[3] (p.Ala6_Ala8del) microsatellite Rett syndrome [RCV002472368]|Severe neonatal-onset encephalopathy with microcephaly [RCV000807467]|not provided [RCV000678239]|not specified [RCV000173210] ChrX:154097643..154097651 [GRCh38]
ChrX:153363100..153363108 [GRCh37]
ChrX:Xq28
benign|likely benign|uncertain significance
NM_001110792.2(MECP2):c.414-4del deletion not provided [RCV000597192] ChrX:154031454 [GRCh38]
ChrX:153296905 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.1153_1235del (p.Ser385fs) deletion Rett syndrome [RCV001292592] ChrX:154030629..154030711 [GRCh38]
ChrX:153296080..153296162 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.1146C>G (p.His382Gln) single nucleotide variant Rett syndrome [RCV001331331] ChrX:154030718 [GRCh38]
ChrX:153296169 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.311del (p.Gly104fs) deletion not provided [RCV000144752] ChrX:154032309 [GRCh38]
ChrX:153297760 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.843_855dup (p.Ser286fs) duplication not provided [RCV000144753] ChrX:154031008..154031009 [GRCh38]
ChrX:153296459..153296460 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.1043_1133delinsCTGTAAGTGCAC (p.Leu348fs) indel not provided [RCV000144754] ChrX:154030731..154030821 [GRCh38]
ChrX:153296182..153296272 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.1122del (p.Lys375fs) deletion Severe neonatal-onset encephalopathy with microcephaly [RCV002514779]|not provided [RCV000144755] ChrX:154030742 [GRCh38]
ChrX:153296193 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.1121_1222delinsAAGAAGGAGCACCACCACCATCACCACCACTCAGAGTCCCCAAAGGCCCCCGTGCCACTGCTCCCACCCCTGC (p.Pro374fs) indel not provided [RCV000144756] ChrX:154030642..154030743 [GRCh38]
ChrX:153296093..153296194 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.1134CCA[1] (p.His383_His384del) microsatellite Rett syndrome [RCV000590905]|not provided [RCV001704062] ChrX:154030722..154030727 [GRCh38]
ChrX:153296173..153296178 [GRCh37]
ChrX:Xq28
benign|likely benign|uncertain significance
NM_001110792.2(MECP2):c.1165_1234del (p.Lys389fs) deletion Rett syndrome [RCV000590874]|X-linked intellectual disability-psychosis-macroorchidism syndrome [RCV003126509]|not provided [RCV000144758] ChrX:154030630..154030699 [GRCh38]
ChrX:153296081..153296150 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic|benign|uncertain significance
NM_001110792.2(MECP2):c.1181_1207del (p.Leu394_Pro402del) deletion Rett syndrome [RCV001507059]|not provided [RCV000144759] ChrX:154030657..154030683 [GRCh38]
ChrX:153296108..153296134 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.1197_1302del (p.Pro400fs) deletion not provided [RCV000144760] ChrX:154030562..154030667 [GRCh38]
ChrX:153296013..153296118 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.1326dup (p.Lys443fs) duplication not provided [RCV000144761] ChrX:154030537..154030538 [GRCh38]
ChrX:153295988..153295989 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.62+5380C>T single nucleotide variant Rett syndrome [RCV000132823] ChrX:154092224 [GRCh38]
ChrX:153357682 [GRCh37]
ChrX:Xq28
uncertain significance|not provided
NM_001110792.2(MECP2):c.1086C>T (p.Ser362=) single nucleotide variant Inborn genetic diseases [RCV002388524]|Severe neonatal-onset encephalopathy with microcephaly [RCV001493898]|not provided [RCV003438834] ChrX:154030778 [GRCh38]
ChrX:153296229 [GRCh37]
ChrX:Xq28
likely benign|uncertain significance
NM_001110792.2(MECP2):c.786_810dup (p.Ala271delinsProArgGlnGluAlaLysSerTer) duplication Rett syndrome [RCV000488216] ChrX:154031053..154031054 [GRCh38]
ChrX:153296504..153296505 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.933_968del (p.Leu313_Val324del) deletion Severe neonatal-onset encephalopathy with microcephaly [RCV001303608] ChrX:154030896..154030931 [GRCh38]
ChrX:153296347..153296382 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh38/hg38 Xq27.1-28(chrX:139333024-155978689)x1 copy number loss See cases [RCV000133818] ChrX:139333024..155978689 [GRCh38]
ChrX:138415183..155208354 [GRCh37]
ChrX:138242849..154861548 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 copy number loss See cases [RCV000133792] ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:4245..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
NM_004992.3(MECP2):c.911A>C (p.Lys304Thr) single nucleotide variant not provided [RCV000144770] ChrX:154030917 [GRCh38]
ChrX:153296368 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_001110792.2(MECP2):c.1042C>G (p.Leu348Val) single nucleotide variant Rett syndrome [RCV001800461]|not provided [RCV000144771] ChrX:154030822 [GRCh38]
ChrX:153296273 [GRCh37]
ChrX:Xq28
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001110792.2(MECP2):c.1121C>T (p.Pro374Leu) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV001307174] ChrX:154030743 [GRCh38]
ChrX:153296194 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.1168G>T (p.Ala390Ser) single nucleotide variant Rett syndrome [RCV003235061]|Severe neonatal-onset encephalopathy with microcephaly [RCV001363572]|not provided [RCV001719912] ChrX:154030696 [GRCh38]
ChrX:153296147 [GRCh37]
ChrX:Xq28
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001110792.2(MECP2):c.1190C>A (p.Pro397His) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV000465490]|not specified [RCV000193703] ChrX:154030674 [GRCh38]
ChrX:153296125 [GRCh37]
ChrX:Xq28
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001110792.2(MECP2):c.1198C>G (p.Pro400Ala) single nucleotide variant Inborn genetic diseases [RCV002354331]|Rett syndrome [RCV000172866]|Severe neonatal-onset encephalopathy with microcephaly [RCV000524942]|not provided [RCV001719913] ChrX:154030666 [GRCh38]
ChrX:153296117 [GRCh37]
ChrX:Xq28
benign|likely benign|uncertain significance
NM_001110792.2(MECP2):c.1244C>T (p.Pro415Leu) single nucleotide variant Inborn genetic diseases [RCV002345451]|Rett syndrome [RCV003235062]|Severe neonatal-onset encephalopathy with microcephaly [RCV001340957]|not provided [RCV000144776] ChrX:154030620 [GRCh38]
ChrX:153296071 [GRCh37]
ChrX:Xq28
likely benign|uncertain significance
NM_001110792.2(MECP2):c.1291C>T (p.Pro431Ser) single nucleotide variant Inborn genetic diseases [RCV002415628]|Rett syndrome [RCV002260619]|Severe neonatal-onset encephalopathy with microcephaly [RCV000766081]|Severe neonatal-onset encephalopathy with microcephaly [RCV001088911]|not provided [RCV000456515]|not specified [RCV000168707] ChrX:154030573 [GRCh38]
ChrX:153296024 [GRCh37]
ChrX:Xq28
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004992.3(MECP2):c.1420C>T (p.Pro474Ser) single nucleotide variant not provided [RCV000144778] ChrX:154030408 [GRCh38]
ChrX:153295859 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.1469G>A (p.Arg490Gln) single nucleotide variant Inborn genetic diseases [RCV003162601]|Rett syndrome [RCV002260620]|Severe neonatal-onset encephalopathy with microcephaly [RCV000766080]|Severe neonatal-onset encephalopathy with microcephaly [RCV001048888]|not provided [RCV000767162]|not specified [RCV000170088] ChrX:154030395 [GRCh38]
ChrX:153295846 [GRCh37]
ChrX:Xq28
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001110792.1(MECP2):c.-28_-27delGAinsTT indel not provided [RCV000144798] ChrX:154097692..154097693 [GRCh38]
ChrX:153363149..153363150 [GRCh37]
ChrX:Xq28
likely benign
NM_001110792.2(MECP2):c.-31AG[2] microsatellite Rett syndrome [RCV002260622]|Severe neonatal-onset encephalopathy with microcephaly [RCV001522613]|X-linked intellectual disability-psychosis-macroorchidism syndrome [RCV000170283]|not specified [RCV000144799] ChrX:154097691..154097692 [GRCh38]
ChrX:153363148..153363149 [GRCh37]
ChrX:Xq28
benign|likely benign|uncertain significance
NM_001110792.2(MECP2):c.6CGC[4] (p.Ala7_Ala8del) microsatellite Rett syndrome [RCV002260623]|Severe neonatal-onset encephalopathy with microcephaly [RCV000701456]|X-linked intellectual disability-psychosis-macroorchidism syndrome [RCV000170277]|not specified [RCV000144800] ChrX:154097643..154097648 [GRCh38]
ChrX:153363100..153363105 [GRCh37]
ChrX:Xq28
likely benign|uncertain significance
NM_001110792.1(MECP2):c.23_24insCGCCGC (p.Ala8_Pro9insAlaAla) insertion not provided [RCV000144801] ChrX:154097642..154097643 [GRCh38]
ChrX:153363099..153363100 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.1A>T (p.Met1Leu) single nucleotide variant Rett syndrome [RCV000170280]|not provided [RCV000144804] ChrX:154097665 [GRCh38]
ChrX:153363122 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic|uncertain significance
NM_001110792.2(MECP2):c.57G>C (p.Glu19Asp) single nucleotide variant not provided [RCV000144805] ChrX:154097609 [GRCh38]
ChrX:153363066 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.172G>A (p.Val58Met) single nucleotide variant Inborn genetic diseases [RCV002514780]|Severe neonatal-onset encephalopathy with microcephaly [RCV002055865]|not provided [RCV000144806] ChrX:154032448 [GRCh38]
ChrX:153297899 [GRCh37]
ChrX:Xq28
benign|likely benign|uncertain significance
NM_001110792.2(MECP2):c.359T>C (p.Leu120Pro) single nucleotide variant Rett syndrome [RCV003223521] ChrX:154032261 [GRCh38]
ChrX:153297712 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_001110792.2(MECP2):c.589G>A (p.Gly197Ser) single nucleotide variant not provided [RCV000144808] ChrX:154031275 [GRCh38]
ChrX:153296726 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.592A>T (p.Arg198Ter) single nucleotide variant not provided [RCV000144809] ChrX:154031272 [GRCh38]
ChrX:153296723 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.604C>T (p.Arg202Cys) single nucleotide variant Rett syndrome [RCV000680040]|Severe neonatal-onset encephalopathy with microcephaly [RCV000645120]|not provided [RCV000144810] ChrX:154031260 [GRCh38]
ChrX:153296711 [GRCh37]
ChrX:Xq28
pathogenic|uncertain significance
NM_001110792.2(MECP2):c.641C>T (p.Ala214Val) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV002055866]|Severe neonatal-onset encephalopathy with microcephaly [RCV003227673]|not specified [RCV000144811] ChrX:154031223 [GRCh38]
ChrX:153296674 [GRCh37]
ChrX:Xq28
benign|likely benign|uncertain significance
NM_001110792.2(MECP2):c.727G>A (p.Gly243Arg) single nucleotide variant History of neurodevelopmental disorder [RCV000718449]|Rett syndrome [RCV002472364]|Severe neonatal-onset encephalopathy with microcephaly [RCV002514781]|X-linked intellectual disability-psychosis-macroorchidism syndrome [RCV002265623]|not provided [RCV000726052] ChrX:154031137 [GRCh38]
ChrX:153296588 [GRCh37]
ChrX:Xq28
benign|likely benign|uncertain significance
NM_001110792.2(MECP2):c.737C>G (p.Ala246Gly) single nucleotide variant Inborn genetic diseases [RCV002362777]|Rett syndrome [RCV002472365]|Severe neonatal-onset encephalopathy with microcephaly [RCV001079662]|not provided [RCV000723954] ChrX:154031127 [GRCh38]
ChrX:153296578 [GRCh37]
ChrX:Xq28
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001110792.2(MECP2):c.915C>G (p.Ile305Met) single nucleotide variant Inborn genetic diseases [RCV002444598]|Microcephaly [RCV001090171]|Rett syndrome [RCV001800462]|Severe neonatal-onset encephalopathy with microcephaly [RCV001498800]|not provided [RCV000144814] ChrX:154030949 [GRCh38]
ChrX:153296400 [GRCh37]
ChrX:Xq28
likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004992.4(MECP2):c.1A>T (p.Met1Leu) single nucleotide variant Rett syndrome [RCV000172861] ChrX:154092209 [GRCh38]
ChrX:153357667 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.1199_1319delinsAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCA (p.Pro400_Gly440delinsGlnTer) indel Rett syndrome [RCV000172864] ChrX:154030545..154030665 [GRCh38]
ChrX:153295996..153296116 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.414-42A>G single nucleotide variant Rett syndrome [RCV000172867] ChrX:154031492 [GRCh38]
ChrX:153296943 [GRCh37]
ChrX:Xq28
likely benign
NM_001110792.2(MECP2):c.1182_*452del (p.Leu394_Ter499delinsXaa) deletion Rett syndrome [RCV000172868] ChrX:154029915..154030682 [GRCh38]
ChrX:153295366..153296133 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.685C>T (p.Pro229Ser) single nucleotide variant Rett syndrome [RCV000172869]|not provided [RCV003457648] ChrX:154031179 [GRCh38]
ChrX:153296630 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.426del (p.Ala143fs) deletion Rett syndrome [RCV000172870] ChrX:154031438 [GRCh38]
ChrX:153296889 [GRCh37]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq27.3-28(chrX:144627217-155434735)x3 copy number gain See cases [RCV000133725] ChrX:144627217..155434735 [GRCh38]
ChrX:146715565..154664396 [GRCh37]
ChrX:143516380..154317590 [NCBI36]
ChrX:Xq27.3-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:85123740-156022206)x3 copy number gain See cases [RCV000133744] ChrX:85123740..156022206 [GRCh38]
ChrX:84378746..155251871 [GRCh37]
ChrX:84265402..154905065 [NCBI36]
ChrX:Xq21.1-28
pathogenic
NM_001110792.2(MECP2):c.1096C>T (p.Arg366Cys) single nucleotide variant Rett syndrome [RCV002472366]|Severe neonatal-onset encephalopathy with microcephaly [RCV001432219]|not provided [RCV000724672]|not specified [RCV000193184] ChrX:154030768 [GRCh38]
ChrX:153296219 [GRCh37]
ChrX:Xq28
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001110792.2(MECP2):c.1238G>C (p.Ser413Thr) single nucleotide variant not specified [RCV000146350] ChrX:154030626 [GRCh38]
ChrX:153296077 [GRCh37]
ChrX:Xq28
benign|uncertain significance
NM_001110792.2(MECP2):c.33AGG[6] (p.Gly16dup) microsatellite Inborn genetic diseases [RCV002312644]|Rett syndrome [RCV002472367]|Severe neonatal-onset encephalopathy with microcephaly [RCV000548811]|not provided [RCV001705949]|not specified [RCV000168678] ChrX:154097618..154097619 [GRCh38]
ChrX:153363075..153363076 [GRCh37]
ChrX:Xq28
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
NM_001110792.2(MECP2):c.542A>G (p.Glu181Gly) single nucleotide variant Encephalopathy, neonatal severeMental retardation, X-linked, syndromic 13Rett syndrome [RCV000146355] ChrX:154031322 [GRCh38]
ChrX:153296773 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.852G>A (p.Pro284=) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV002055904]|not specified [RCV000146360] ChrX:154031012 [GRCh38]
ChrX:153296463 [GRCh37]
ChrX:Xq28
benign|likely benign|uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 copy number gain See cases [RCV000134564] ChrX:20297..155999253 [GRCh38]
ChrX:70297..155228918 [GRCh37]
ChrX:10297..154882112 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78605009-156016560)x1 copy number loss See cases [RCV000134570] ChrX:78605009..156016560 [GRCh38]
ChrX:77860506..155246225 [GRCh37]
ChrX:77747162..154899419 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xq11.1-28(chrX:62712230-155978888)x3 copy number gain See cases [RCV000134025] ChrX:62712230..155978888 [GRCh38]
ChrX:61931700..155208553 [GRCh37]
ChrX:61848425..154861747 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1 copy number loss See cases [RCV000135300] ChrX:37076284..156016920 [GRCh38]
ChrX:37094357..155246585 [GRCh37]
ChrX:37004278..154899779 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:92222680-156016920)x1 copy number loss See cases [RCV000135307] ChrX:92222680..156016920 [GRCh38]
ChrX:91477679..155246585 [GRCh37]
ChrX:91364335..154899779 [NCBI36]
ChrX:Xq21.31-28
pathogenic
GRCh38/hg38 Xq28(chrX:154022066-154065465)x1 copy number loss See cases [RCV000135407] ChrX:154022066..154065465 [GRCh38]
ChrX:152940711..152984110 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:154022039-154312841)x2 copy number gain See cases [RCV000134819] ChrX:154022039..154312841 [GRCh38]
ChrX:153333946..153541192 [GRCh37]
ChrX:152940684..153194386 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74510116-156022206)x1 copy number loss See cases [RCV000134958] ChrX:74510116..156022206 [GRCh38]
ChrX:73729951..155251871 [GRCh37]
ChrX:73646676..154905065 [NCBI36]
ChrX:Xq13.2-28
pathogenic
GRCh38/hg38 Xq23-28(chrX:114533139-156022206)x1 copy number loss See cases [RCV000134947] ChrX:114533139..156022206 [GRCh38]
ChrX:113767592..155251871 [GRCh37]
ChrX:113673848..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xq28(chrX:153855152-154092314)x2 copy number gain See cases [RCV000135840] ChrX:153855152..154092314 [GRCh38]
ChrX:152773801..153010966 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:153296806-154604471)x2 copy number gain See cases [RCV000135451] ChrX:153296806..154604471 [GRCh38]
ChrX:152568327..153832724 [GRCh37]
ChrX:152215458..153485918 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1 copy number loss See cases [RCV000135552] ChrX:36237706..156022206 [GRCh38]
ChrX:36255823..155251871 [GRCh37]
ChrX:36165744..154905065 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:77369933-156013167)x1 copy number loss See cases [RCV000135454] ChrX:77369933..156013167 [GRCh38]
ChrX:76634813..155242832 [GRCh37]
ChrX:76507069..154896026 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 copy number loss See cases [RCV000136478] ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.33-28(chrX:94462929-156001635)x3 copy number gain See cases [RCV000136552] ChrX:94462929..156001635 [GRCh38]
ChrX:93717928..155231300 [GRCh37]
ChrX:93604584..154884494 [NCBI36]
ChrX:Xq21.33-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 copy number loss See cases [RCV000136097] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq23-28(chrX:111745722-154555423)x3 copy number gain See cases [RCV000136030] ChrX:111745722..154555423 [GRCh38]
ChrX:110988950..153783638 [GRCh37]
ChrX:110875606..153436832 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 copy number loss See cases [RCV000136005] ChrX:10001..156030895 [GRCh38]
ChrX:60001..155260560 [GRCh37]
ChrX:1..154913754 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq25-28(chrX:128473235-156003229)x1 copy number loss See cases [RCV000136095] ChrX:128473235..156003229 [GRCh38]
ChrX:127607213..155232894 [GRCh37]
ChrX:127434894..154886088 [NCBI36]
ChrX:Xq25-28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:140783390-155611114)x2 copy number gain See cases [RCV000135881] ChrX:140783390..155611114 [GRCh38]
ChrX:139865555..154785891 [GRCh37]
ChrX:139693221..154493969 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79093152-156003229)x1 copy number loss See cases [RCV000136083] ChrX:79093152..156003229 [GRCh38]
ChrX:78348649..155232894 [GRCh37]
ChrX:78235305..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq27.2-28(chrX:141650284-156022206)x1 copy number loss See cases [RCV000136912] ChrX:141650284..156022206 [GRCh38]
ChrX:140738414..155251871 [GRCh37]
ChrX:140566080..154905065 [NCBI36]
ChrX:Xq27.2-28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:75086417-156022206)x1 copy number loss See cases [RCV000137113] ChrX:75086417..156022206 [GRCh38]
ChrX:74306252..155251871 [GRCh37]
ChrX:74222977..154905065 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 copy number gain See cases [RCV000136841] ChrX:2782275..155611794 [GRCh38]
ChrX:2700316..154785891 [GRCh37]
ChrX:2710316..154494649 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq28(chrX:154022066-154044684)x1 copy number loss See cases [RCV000136627] ChrX:154022066..154044684 [GRCh38]
ChrX:152940711..152963329 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:153322656-155522304)x2 copy number gain See cases [RCV000136716] ChrX:153322656..155522304 [GRCh38]
ChrX:152864376..154751965 [GRCh37]
ChrX:152241308..154405159 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 copy number gain See cases [RCV000136791] ChrX:2765636..155522304 [GRCh38]
ChrX:2683677..154751965 [GRCh37]
ChrX:2693677..154405159 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq28(chrX:151750863-155522304)x1 copy number loss See cases [RCV000136718] ChrX:151750863..155522304 [GRCh38]
ChrX:150919335..154751965 [GRCh37]
ChrX:150669991..154405159 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:153276277-156003242)x3 copy number gain See cases [RCV000137498] ChrX:153276277..156003242 [GRCh38]
ChrX:152465185..155232907 [GRCh37]
ChrX:152118379..154886101 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:153667032-154394658)x2 copy number gain See cases [RCV000137536] ChrX:153667032..154394658 [GRCh38]
ChrX:152585681..153276194 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq22.1-28(chrX:102197284-156003242)x1 copy number loss See cases [RCV000137415] ChrX:102197284..156003242 [GRCh38]
ChrX:101452257..155232907 [GRCh37]
ChrX:101338913..154886101 [NCBI36]
ChrX:Xq22.1-28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:62561604-156003242)x3 copy number gain See cases [RCV000137553] ChrX:62561604..156003242 [GRCh38]
ChrX:61781074..155232907 [GRCh37]
ChrX:61697799..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76604011-156022206)x1 copy number loss See cases [RCV000137138] ChrX:76604011..156022206 [GRCh38]
ChrX:75824420..155251871 [GRCh37]
ChrX:75740824..154905065 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xq28(chrX:153813894-154140759)x2 copy number gain See cases [RCV000137153] ChrX:153813894..154140759 [GRCh38]
ChrX:152732543..153059427 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq26.3-28(chrX:137118983-156003242)x1 copy number loss See cases [RCV000137257] ChrX:137118983..156003242 [GRCh38]
ChrX:136201142..155232907 [GRCh37]
ChrX:136028808..154886101 [NCBI36]
ChrX:Xq26.3-28
pathogenic|uncertain significance
GRCh38/hg38 Xq25-28(chrX:123793526-156022206)x1 copy number loss See cases [RCV000137167] ChrX:123793526..156022206 [GRCh38]
ChrX:122927376..155251871 [GRCh37]
ChrX:122755057..154905065 [NCBI36]
ChrX:Xq25-28
pathogenic|uncertain significance
GRCh38/hg38 Xq21.33-28(chrX:95846285-156003242)x3 copy number gain See cases [RCV000138020] ChrX:95846285..156003242 [GRCh38]
ChrX:95101284..155232907 [GRCh37]
ChrX:94987940..154886101 [NCBI36]
ChrX:Xq21.33-28
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106127173-156003242)x1 copy number loss See cases [RCV000137887] ChrX:106127173..156003242 [GRCh38]
ChrX:105371166..155232907 [GRCh37]
ChrX:105257822..154886101 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xq27.3-28(chrX:143553831-156003229)x1 copy number loss See cases [RCV000138679] ChrX:143553831..156003229 [GRCh38]
ChrX:142641674..155232894 [GRCh37]
ChrX:142469340..154886088 [NCBI36]
ChrX:Xq27.3-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79911061-156003229)x1 copy number loss See cases [RCV000138787] ChrX:79911061..156003229 [GRCh38]
ChrX:79166568..155232894 [GRCh37]
ChrX:79053224..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq28(chrX:153727116-154555423)x2 copy number gain See cases [RCV000138393] ChrX:153727116..154555423 [GRCh38]
ChrX:153333946..153783638 [GRCh37]
ChrX:152645765..153436832 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106465610-156003242)x1 copy number loss See cases [RCV000138541] ChrX:106465610..156003242 [GRCh38]
ChrX:105708840..155232907 [GRCh37]
ChrX:105595496..154886101 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 copy number loss See cases [RCV000139278] ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:82211310-156003229)x1 copy number loss See cases [RCV000139400] ChrX:82211310..156003229 [GRCh38]
ChrX:81466759..155232894 [GRCh37]
ChrX:81353415..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:88339926-156003242)x1 copy number loss See cases [RCV000139351] ChrX:88339926..156003242 [GRCh38]
ChrX:87594927..155232907 [GRCh37]
ChrX:87481583..154886101 [NCBI36]
ChrX:Xq21.31-28
pathogenic|likely benign
GRCh38/hg38 Xq11.1-28(chrX:62712219-156003242)x3 copy number gain See cases [RCV000139416] ChrX:62712219..156003242 [GRCh38]
ChrX:61931689..155232907 [GRCh37]
ChrX:61848414..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic|likely benign
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 copy number gain See cases [RCV000139888] ChrX:251880..156004181 [GRCh38]
ChrX:168547..155233846 [GRCh37]
ChrX:108547..154887040 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq28(chrX:153813894-154383071)x2 copy number gain See cases [RCV000140524] ChrX:153813894..154383071 [GRCh38]
ChrX:153079349..153611431 [GRCh37]
ChrX:152732543..153264625 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:153451351-154230630)x2 copy number gain See cases [RCV000140532] ChrX:153451351..154230630 [GRCh38]
ChrX:152716809..153496099 [GRCh37]
ChrX:152370003..153149293 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:153802827-154294817)x2 copy number gain See cases [RCV000140537] ChrX:153802827..154294817 [GRCh38]
ChrX:153068282..153523170 [GRCh37]
ChrX:152721476..153176364 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:139530928-156003229)x1 copy number loss See cases [RCV000139724] ChrX:139530928..156003229 [GRCh38]
ChrX:138613087..155232894 [GRCh37]
ChrX:138440753..154886088 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 copy number gain See cases [RCV000141400] ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq28(chrX:154017291-154394658)x3 copy number gain See cases [RCV000141234] ChrX:154017291..154394658 [GRCh38]
ChrX:153333946..153623000 [GRCh37]
ChrX:152935936..153276194 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 copy number gain See cases [RCV000140786] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 copy number loss See cases [RCV000140787] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic|conflicting data from submitters
GRCh38/hg38 Xq21.1-28(chrX:82096719-156004066)x1 copy number loss See cases [RCV000141825] ChrX:82096719..156004066 [GRCh38]
ChrX:81352168..155233731 [GRCh37]
ChrX:81238824..154886925 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:89557622-156004066)x1 copy number loss See cases [RCV000142016] ChrX:89557622..156004066 [GRCh38]
ChrX:88812621..155233731 [GRCh37]
ChrX:88699277..154886925 [NCBI36]
ChrX:Xq21.31-28
pathogenic
GRCh38/hg38 Xq24-28(chrX:119297670-156004066)x1 copy number loss See cases [RCV000141743] ChrX:119297670..156004066 [GRCh38]
ChrX:118431633..155233731 [GRCh37]
ChrX:118315661..154886925 [NCBI36]
ChrX:Xq24-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78187188-156004066)x1 copy number loss See cases [RCV000142337] ChrX:78187188..156004066 [GRCh38]
ChrX:77442685..155233731 [GRCh37]
ChrX:77329341..154886925 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq24-28(chrX:118856574-156004066)x1 copy number loss See cases [RCV000142137] ChrX:118856574..156004066 [GRCh38]
ChrX:117990537..155233731 [GRCh37]
ChrX:117874565..154886925 [NCBI36]
ChrX:Xq24-28
pathogenic
GRCh38/hg38 Xq21.2-28(chrX:86626431-156004066)x1 copy number loss See cases [RCV000142037] ChrX:86626431..156004066 [GRCh38]
ChrX:85881434..155233731 [GRCh37]
ChrX:85768090..154886925 [NCBI36]
ChrX:Xq21.2-28
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106722296-156004066)x1 copy number loss See cases [RCV000142190] ChrX:106722296..156004066 [GRCh38]
ChrX:105965526..155233731 [GRCh37]
ChrX:105852182..154886925 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xq28(chrX:153861449-154140759)x2 copy number gain See cases [RCV000143114] ChrX:153861449..154140759 [GRCh38]
ChrX:152780098..153059427 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:154085063-154140759)x3 copy number gain See cases [RCV000143050] ChrX:154085063..154140759 [GRCh38]
ChrX:153350516..153406233 [GRCh37]
ChrX:153003710..153059427 [NCBI36]
ChrX:Xq28
uncertain significance
GRCh38/hg38 Xq28(chrX:154024864-154029207)x1 copy number loss See cases [RCV000142850] ChrX:154024864..154029207 [GRCh38]
ChrX:152943509..152947852 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:148951460-155434653)x2 copy number gain See cases [RCV000143002] ChrX:148951460..155434653 [GRCh38]
ChrX:148956425..154664314 [GRCh37]
ChrX:147840690..154317508 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq23-28(chrX:111050385-156022206)x1 copy number loss See cases [RCV000142577] ChrX:111050385..156022206 [GRCh38]
ChrX:110293613..155251871 [GRCh37]
ChrX:110180269..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 copy number gain See cases [RCV000142625] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74684615-156004066)x1 copy number loss See cases [RCV000143424] ChrX:74684615..156004066 [GRCh38]
ChrX:73904450..155233731 [GRCh37]
ChrX:73821175..154886925 [NCBI36]
ChrX:Xq13.2-28
pathogenic
GRCh38/hg38 Xp11.22-q28(chrX:53144751-156003242)x1 copy number loss See cases [RCV000143349] ChrX:53144751..156003242 [GRCh38]
ChrX:53321095..155232907 [GRCh37]
ChrX:53190658..154886101 [NCBI36]
ChrX:Xp11.22-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 copy number loss See cases [RCV000143441] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 copy number gain See cases [RCV000143219] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq28(chrX:154030850-154034917)x1 copy number loss See cases [RCV000143274] ChrX:154030850..154034917 [GRCh38]
ChrX:152949495..152953562 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76557425-156004066)x1 copy number loss See cases [RCV000143132] ChrX:76557425..156004066 [GRCh38]
ChrX:75777833..155233731 [GRCh37]
ChrX:75694237..154886925 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xq28(chrX:154004083-154055920)x1 copy number loss See cases [RCV000143726] ChrX:154004083..154055920 [GRCh38]
ChrX:153269534..153321371 [GRCh37]
ChrX:152922728..152974565 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000148141] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000148135] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
NM_001110792.2(MECP2):c.520A>G (p.Arg174Gly) single nucleotide variant Rett syndrome [RCV000157062] ChrX:154031344 [GRCh38]
ChrX:153296795 [GRCh37]
ChrX:Xq28
pathogenic
NM_004992.3(MECP2):c.1410_1411delCA (p.Asn470Lysfs) deletion Rett syndrome [RCV000168708]|Rett's disorder [RCV000168708] ChrX:154030417..154030418 [GRCh38]
ChrX:153295868..153295869 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_001110792.1(MECP2):c.1289_1492del204 (p.Met430_Val497del) deletion Rett syndrome [RCV000168706]|Rett's disorder [RCV000168706] ChrX:154030372..154030575 [GRCh38]
ChrX:153295823..153296026 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.1(MECP2):c.863_*44del679 deletion Rett syndrome [RCV000168711]|Rett's disorder [RCV000168711] ChrX:154030323..154031001 [GRCh38]
ChrX:153295774..153296452 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_004992.3(MECP2):c.(?_1169)_*(1_?)del deletion Rett syndrome [RCV000170104] ChrX:154030366..154030659 [GRCh38]
ChrX:153295817..153296110 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.1048_1229del (p.Thr350fs) deletion Rett syndrome [RCV000170114] ChrX:154030635..154030816 [GRCh38]
ChrX:153296086..153296267 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic
NM_001110792.2(MECP2):c.1048_1238del (p.Thr350fs) deletion Rett syndrome [RCV000170115] ChrX:154030626..154030816 [GRCh38]
ChrX:153296077..153296267 [GRCh37]
ChrX:Xq28
pathogenic
NM_004992.3(MECP2):c.(?_1017)_(1397_?)del deletion Rett syndrome [RCV000170116] ChrX:154030431..154030811 [GRCh38]
ChrX:153295882..153296262 [GRCh37]
ChrX:Xq28
pathogenic
nsv1197494 deletion Rett syndrome [RCV000170117] ChrX:154015897..154030807 [GRCh38]
ChrX:153281346..153296256 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.1064_1194del (p.Gly355fs) deletion Rett syndrome [RCV000170118] ChrX:154030670..154030800 [GRCh38]
ChrX:153296121..153296251 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.1066_1231delinsGT (p.Arg356fs) indel Rett syndrome [RCV000170119] ChrX:154030633..154030798 [GRCh38]
ChrX:153296084..153296249 [GRCh37]
ChrX:Xq28
pathogenic|uncertain significance
NM_001110792.2(MECP2):c.1075_1231delinsGT (p.Lys359fs) indel Rett syndrome [RCV000170120] ChrX:154030633..154030789 [GRCh38]
ChrX:153296084..153296240 [GRCh37]
ChrX:Xq28
pathogenic
NM_004992.3(MECP2):c.(?_1044)_(1442_?)del deletion Rett syndrome [RCV000170122] ChrX:154030386..154030784 [GRCh38]
ChrX:153295837..153296235 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.1082_1242del (p.Ser361fs) deletion Rett syndrome [RCV000170123] ChrX:154030622..154030782 [GRCh38]
ChrX:153296073..153296233 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.1084_1235del (p.Ser362fs) deletion Rett syndrome [RCV000170124] ChrX:154030629..154030780 [GRCh38]
ChrX:153296080..153296231 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.1088_1236del (p.Pro363fs) deletion Rett syndrome [RCV000170125] ChrX:154030628..154030776 [GRCh38]
ChrX:153296079..153296227 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic
NM_001110792.2(MECP2):c.1093_1255del (p.Gly365fs) deletion Rett syndrome [RCV000170126] ChrX:154030609..154030771 [GRCh38]
ChrX:153296060..153296222 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.1114_*2524del (p.Ser372fs) deletion Rett syndrome [RCV000170127] ChrX:154027843..154030750 [GRCh38]
ChrX:153293294..153296201 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.1132_1237del (p.His378fs) deletion Rett syndrome [RCV000170128] ChrX:154030627..154030732 [GRCh38]
ChrX:153296078..153296183 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.1133_*13del (p.His378_Ter499delinsXaa) deletion Rett syndrome [RCV000170129] ChrX:154030354..154030731 [GRCh38]
ChrX:153295805..153296182 [GRCh37]
ChrX:Xq28
pathogenic|uncertain significance
NM_001110792.2(MECP2):c.1133_1239del (p.His378fs) deletion Rett syndrome [RCV000170130] ChrX:154030625..154030731 [GRCh38]
ChrX:153296076..153296182 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.1137_1237del (p.His379fs) deletion Rett syndrome [RCV000170131]|Severe neonatal-onset encephalopathy with microcephaly [RCV000760272] ChrX:154030627..154030727 [GRCh38]
ChrX:153296078..153296178 [GRCh37]
ChrX:Xq28
pathogenic
NM_004992.3(MECP2):c.1101_(1396_?)del deletion Rett syndrome [RCV000170132] ChrX:154030432..154030727 [GRCh38]
ChrX:153295883..153296178 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.1141_1261del (p.His381fs) deletion Rett syndrome [RCV000170133] ChrX:154030603..154030723 [GRCh38]
ChrX:153296054..153296174 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.1151_1362del (p.His384fs) deletion Rett syndrome [RCV000170134] ChrX:154030502..154030713 [GRCh38]
ChrX:153295953..153296164 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.1157_1227del (p.Glu386fs) deletion Rett syndrome [RCV000170136] ChrX:154030637..154030707 [GRCh38]
ChrX:153296088..153296158 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic
NM_001110792.2(MECP2):c.1159_1238del (p.Ser387fs) deletion Rett syndrome [RCV000170137] ChrX:154030626..154030705 [GRCh38]
ChrX:153296077..153296156 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.1163_1215del (p.Pro388fs) deletion Rett syndrome [RCV000170138] ChrX:154030649..154030701 [GRCh38]
ChrX:153296100..153296152 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.1165_*568delinsCCGTGG (p.Lys389fs) indel Rett syndrome [RCV000170140] ChrX:154029799..154030699 [GRCh38]
ChrX:153295250..153296150 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.1168_1238del (p.Ala390fs) deletion Rett syndrome [RCV000170142]|Severe neonatal-onset encephalopathy with microcephaly [RCV001850414] ChrX:154030626..154030696 [GRCh38]
ChrX:153296077..153296147 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.1178_1263del (p.Pro393fs) deletion Rett syndrome [RCV000170143] ChrX:154030601..154030686 [GRCh38]
ChrX:153296052..153296137 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.1188_*29del (p.Pro396_Ter499delinsXaa) deletion Rett syndrome [RCV000170144] ChrX:154030338..154030676 [GRCh38]
ChrX:153295789..153296127 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic
NM_001110792.2(MECP2):c.1193_*944del (p.Leu398fs) deletion Rett syndrome [RCV000170145] ChrX:154029423..154030671 [GRCh38]
ChrX:153294874..153296122 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic
NM_001110792.2(MECP2):c.1195_1246del (p.Pro399fs) deletion Angelman syndrome [RCV000170146]|Atypical Rett syndrome [RCV000012605]|not provided [RCV002508196] ChrX:154030618..154030669 [GRCh38]
ChrX:153296069..153296120 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic
NM_001110792.2(MECP2):c.1195_1494del (p.Pro399_Ser498del) deletion Rett syndrome [RCV000170147] ChrX:154030370..154030669 [GRCh38]
ChrX:153295821..153296120 [GRCh37]
ChrX:Xq28
pathogenic|uncertain significance
NM_001110792.2(MECP2):c.1199_*39del (p.Pro400fs) deletion Rett syndrome [RCV000170148] ChrX:154030328..154030665 [GRCh38]
ChrX:153295779..153296116 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.1200_1230del (p.Pro403fs) deletion Rett syndrome [RCV000170151] ChrX:154030634..154030664 [GRCh38]
ChrX:153296085..153296115 [GRCh37]
ChrX:Xq28
pathogenic
NM_004992.3(MECP2):c.(?_1169)_(1397_?)del deletion Rett syndrome [RCV000170152] ChrX:154030431..154030659 [GRCh38]
ChrX:153295882..153296110 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.1216_1217insT (p.Glu406fs) insertion Rett syndrome [RCV000170153] ChrX:154030647..154030648 [GRCh38]
ChrX:153296098..153296099 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.1232_1302del (p.Pro411fs) deletion Rett syndrome [RCV000170154] ChrX:154030562..154030632 [GRCh38]
ChrX:153296013..153296083 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic
NM_004992.3(MECP2):c.(?_1336)_*(1_?)del deletion Rett syndrome [RCV000170157] ChrX:154030366..154030492 [GRCh38]
ChrX:153295817..153295943 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.1444_1447delinsTG (p.Asn482fs) indel Rett syndrome [RCV000170159] ChrX:154030417..154030420 [GRCh38]
ChrX:153295868..153295871 [GRCh37]
ChrX:Xq28
pathogenic|uncertain significance
NM_004992.3:c.(?_184)_(1065_?)del deletion Rett syndrome [RCV000170160] ChrX:Xq28 pathogenic
NM_004992.3(MECP2):c.(?_-226)_(*1_?)del deletion Rett syndrome [RCV000170161]   pathogenic
NM_004992.3(MECP2):c.(?_-226)_26+?del deletion Rett syndrome [RCV000170162] ChrX:153357642..153363188 [GRCh37]
ChrX:Xq28
pathogenic
NM_004992.3(MECP2):c.(?_248)_(320_?)del deletion Rett syndrome [RCV000170163] ChrX:154032264..154032336 [GRCh38]
ChrX:153297715..153297787 [GRCh37]
ChrX:Xq28
pathogenic
NC_000023.11:g.154016489_154067020delinsTTTCCGACAAAGGT indel Rett syndrome [RCV000170165] ChrX:154016489..154067020 [GRCh38]
ChrX:153281940..153332471 [GRCh37]
ChrX:Xq28
pathogenic
NM_004992.3:c.(?_27)_(378_1461)del deletion Rett syndrome [RCV000170167] ChrX:Xq28 pathogenic
NM_004992.3:c.(?_27)_(*1_?)del deletion Rett syndrome [RCV000170168] ChrX:Xq28 pathogenic
NM_004992.3:c.(?_27)_(*8554_?)del deletion Rett syndrome [RCV000170169] ChrX:Xq28 pathogenic
NM_004992.3:c.(?_27)_(1018_?)del deletion Rett syndrome [RCV000170170] ChrX:Xq28 pathogenic
NM_004992.3:c.(?_27)_(1021_?)del deletion Rett syndrome [RCV000170171] ChrX:Xq28 pathogenic
NM_004992.3:c.(?_27)_(1029_?)del deletion Rett syndrome [RCV000170172] ChrX:Xq28 pathogenic
NM_004992.3:c.(?_27)_(1170_?)del deletion Rett syndrome [RCV000170173] ChrX:Xq28 pathogenic
NM_004992.3:c.(?_27)_(1185_?)del deletion Rett syndrome [RCV000170174] ChrX:Xq28 pathogenic
NM_004992.3:c.(?_27)_(1337_?)del deletion Rett syndrome [RCV000170175] ChrX:Xq28 pathogenic
NM_004992.3:c.(?_27)_(1397_?)del deletion Rett syndrome [RCV000170176] ChrX:Xq28 pathogenic
NM_004992.3(MECP2):c.(?_27)_(367_?)del deletion Rett syndrome [RCV000170177] ChrX:154032217..154032557 [GRCh38]
ChrX:153297668..153298008 [GRCh37]
ChrX:Xq28
pathogenic
NM_004992.3:c.(?_27)_(378_?)del deletion Rett syndrome [RCV000170178] ChrX:Xq28 pathogenic
NM_004992.3(MECP2):c.27-12521_*5072del deletion Rett syndrome [RCV000170179] ChrX:154025295..154045078 [GRCh38]
ChrX:153290746..153310529 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.63-3928_1220del deletion Rett syndrome [RCV000170181] ChrX:154030644..154036485 [GRCh38]
ChrX:153296095..153301936 [GRCh37]
ChrX:Xq28
pathogenic
NM_004992.3(MECP2):c.27-4722_*112delinsCACTTTGTG indel Rett syndrome [RCV000170182] ChrX:154030255..154037279 [GRCh38]
ChrX:153295706..153302730 [GRCh37]
ChrX:Xq28
pathogenic
NM_004992.3(MECP2):c.27-4722_*739delins43 indel Rett syndrome [RCV000170183] ChrX:154029628..154037279 [GRCh38]
ChrX:153295079..153302730 [GRCh37]
ChrX:Xq28
pathogenic
NM_004992.3(MECP2):c.27-5774_902delinsGTGCCCGGACTGATGTCA indel Rett syndrome [RCV000170184] ChrX:154030926..154038331 [GRCh38]
ChrX:153296377..153303782 [GRCh37]
ChrX:Xq28
pathogenic
NM_004992.3(MECP2):c.27-6026_1190delinsGT indel Rett syndrome [RCV000170185] ChrX:154030638..154038583 [GRCh38]
ChrX:153296089..153304034 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.63-6214_1227del deletion Rett syndrome [RCV000170186] ChrX:154030637..154038771 [GRCh38]
ChrX:153296088..153304222 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.63-94_1243del deletion Rett syndrome [RCV000170188] ChrX:154030621..154032651 [GRCh38]
ChrX:153296072..153298102 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.354_357dup (p.Leu120fs) duplication Rett syndrome [RCV000170189] ChrX:154032262..154032263 [GRCh38]
ChrX:153297713..153297714 [GRCh37]
ChrX:Xq28
pathogenic
NM_004992.3:c.343_1182del deletion Rett syndrome [RCV000170190] ChrX:Xq28 pathogenic
NM_004992.3(MECP2):c.(?_378)_*(1_?)del deletion Rett syndrome [RCV000170193] ChrX:154030366..154031450 [GRCh38]
ChrX:153295817..153296901 [GRCh37]
ChrX:Xq28
pathogenic
NM_004992.3(MECP2):c.(?_378)_(1170_?)del deletion Rett syndrome [RCV000170194] ChrX:154030658..154031450 [GRCh38]
ChrX:153296109..153296901 [GRCh37]
ChrX:Xq28
pathogenic
NM_004992.3(MECP2):c.(?_378)_(1185_?)del deletion Rett syndrome [RCV000170195] ChrX:154030643..154031450 [GRCh38]
ChrX:153296094..153296901 [GRCh37]
ChrX:Xq28
pathogenic
NM_004992.3(MECP2):c.(?_378)_(1337_?)del deletion Rett syndrome [RCV000170196] ChrX:154030491..154031450 [GRCh38]
ChrX:153295942..153296901 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.414_1497del (p.Pro139fs) deletion Rett syndrome [RCV000170197] ChrX:154030367..154031450 [GRCh38]
ChrX:153295818..153296901 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.418_1225del (p.Gln140fs) deletion Rett syndrome [RCV000170203] ChrX:154030639..154031446 [GRCh38]
ChrX:153296090..153296897 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.445_1194del (p.Glu149_Leu398del) deletion Rett syndrome [RCV000170204] ChrX:154030670..154031419 [GRCh38]
ChrX:153296121..153296870 [GRCh37]
ChrX:Xq28
pathogenic
NM_004992.3(MECP2):c.481_987del507ins8 indel Rett syndrome [RCV000170205] ChrX:154030841..154031347 [GRCh38]
ChrX:153296292..153296798 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.524_1225del (p.Gly175_Ser408del) deletion Rett syndrome [RCV000170206] ChrX:154030639..154031340 [GRCh38]
ChrX:153296090..153296791 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.538C>A (p.Arg180=) single nucleotide variant Rett syndrome [RCV000170207] ChrX:154031326 [GRCh38]
ChrX:153296777 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.652_1158del (p.Gly218_Glu386del) deletion Rett syndrome [RCV000170208] ChrX:154030706..154031212 [GRCh38]
ChrX:153296157..153296663 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.747_1305del (p.Gly250fs) deletion Rett syndrome [RCV000170210] ChrX:154030559..154031117 [GRCh38]
ChrX:153296010..153296568 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic
NM_001110792.2(MECP2):c.767_1202del (p.Gln256fs) deletion Rett syndrome [RCV000170211] ChrX:154030662..154031097 [GRCh38]
ChrX:153296113..153296548 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.802A>T (p.Lys268Ter) single nucleotide variant Rett syndrome [RCV000170214] ChrX:154031062 [GRCh38]
ChrX:153296513 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.803_1211del (p.Lys268fs) deletion Rett syndrome [RCV000170215] ChrX:154030653..154031061 [GRCh38]
ChrX:153296104..153296512 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.821_854del (p.Gln274fs) deletion Rett syndrome [RCV000170216] ChrX:154031010..154031043 [GRCh38]
ChrX:153296461..153296494 [GRCh37]
ChrX:Xq28
pathogenic
NM_004992.3(MECP2):c.820_1153del334ins67 (p.?) indel Rett syndrome [RCV000170218] ChrX:154030675..154031008 [GRCh38]
ChrX:153296126..153296459 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.858_1220del (p.Val287_Ser407del) deletion Rett syndrome [RCV000170219] ChrX:154030644..154031006 [GRCh38]
ChrX:153296095..153296457 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic
NM_004992.3(MECP2):c.830_831ins23 (p.?) insertion Rett syndrome [RCV000170220] ChrX:154030997..154030998 [GRCh38]
ChrX:153296448..153296449 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.885_1272del (p.Lys296fs) deletion Rett syndrome [RCV000170222] ChrX:154030592..154030979 [GRCh38]
ChrX:153296043..153296430 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic
NM_001110792.2(MECP2):c.887_1224del (p.Lys296fs) deletion Rett syndrome [RCV000170223] ChrX:154030640..154030977 [GRCh38]
ChrX:153296091..153296428 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.891_895delinsAAAAAAAAGACT (p.Ala299fs) indel Rett syndrome [RCV000170224] ChrX:154030969..154030973 [GRCh38]
ChrX:153296420..153296424 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.903_1259delinsA (p.Ser303fs) indel Rett syndrome [RCV000170225] ChrX:154030605..154030961 [GRCh38]
ChrX:153296056..153296412 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.905_916delinsCACA (p.Glu302fs) indel Rett syndrome [RCV000170226] ChrX:154030948..154030959 [GRCh38]
ChrX:153296399..153296410 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.907_1080del (p.Ile305_Ser362del) deletion Rett syndrome [RCV000170227]|Severe neonatal-onset encephalopathy with microcephaly [RCV001298644] ChrX:154030784..154030957 [GRCh38]
ChrX:153296235..153296408 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic|uncertain significance
NM_001110792.2(MECP2):c.930_1131del (p.Glu310fs) deletion Rett syndrome [RCV000170228] ChrX:154030733..154030934 [GRCh38]
ChrX:153296184..153296385 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic
NM_001110792.2(MECP2):c.934_1135del (p.Val312fs) deletion Rett syndrome [RCV000170229] ChrX:154030729..154030930 [GRCh38]
ChrX:153296180..153296381 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.942_1174delinsAC (p.Ile315_Val392delinsLeu) indel Rett syndrome [RCV000170230] ChrX:154030690..154030922 [GRCh38]
ChrX:153296141..153296373 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic
NM_001110792.2(MECP2):c.950_1208del (p.Lys317fs) deletion Rett syndrome [RCV000170231] ChrX:154030656..154030914 [GRCh38]
ChrX:153296107..153296365 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.998_1303delinsG (p.Lys333fs) indel Rett syndrome [RCV000170233] ChrX:154030561..154030866 [GRCh38]
ChrX:153296012..153296317 [GRCh37]
ChrX:Xq28
pathogenic
NM_004992.3(MECP2):c.-98-?_377+?del deletion Rett syndrome [RCV000170234]   pathogenic
NM_001110792.2(MECP2):c.1030_1382del (p.Ser344fs) deletion Rett syndrome [RCV000170235] ChrX:154030482..154030834 [GRCh38]
ChrX:153295933..153296285 [GRCh37]
ChrX:Xq28
pathogenic
NM_004992.3(MECP2):c.(?_1)_26+?dup duplication Rett syndrome [RCV000170242] ChrX:154092184..154092209 [GRCh38]
ChrX:153357642..153357667 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.1066C>G (p.Arg356Gly) single nucleotide variant Rett syndrome [RCV000170243] ChrX:154030798 [GRCh38]
ChrX:153296249 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.1079_1209delinsTG (p.Glu360_Pro403delinsVal) indel Rett syndrome [RCV000170244] ChrX:154030655..154030785 [GRCh38]
ChrX:153296106..153296236 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.1097_1192del (p.Arg366_Pro397del) deletion Rett syndrome [RCV000170245] ChrX:154030672..154030767 [GRCh38]
ChrX:153296123..153296218 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.1101C>A (p.Ser367Arg) single nucleotide variant Rett syndrome [RCV000170246] ChrX:154030763 [GRCh38]
ChrX:153296214 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.1129_1131del (p.Glu377del) deletion Rett syndrome [RCV000170247] ChrX:154030733..154030735 [GRCh38]
ChrX:153296184..153296186 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.1153_1239del (p.Ser385_Ser413del) deletion Rett syndrome [RCV000170249] ChrX:154030625..154030711 [GRCh38]
ChrX:153296076..153296162 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.1159_1227del (p.Ser387_Glu409del) deletion Rett syndrome [RCV000170250] ChrX:154030637..154030705 [GRCh38]
ChrX:153296088..153296156 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.1189_1224del (p.Pro397_Ser408del) deletion Rett syndrome [RCV000170252] ChrX:154030640..154030675 [GRCh38]
ChrX:153296091..153296126 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.1191_1202del (p.Leu398_Pro401del) deletion Rett syndrome [RCV000170253]|Severe neonatal-onset encephalopathy with microcephaly [RCV002054017]|not provided [RCV001552219] ChrX:154030662..154030673 [GRCh38]
ChrX:153296113..153296124 [GRCh37]
ChrX:Xq28
benign|likely benign|uncertain significance
NM_004992.3(MECP2):c.1159_1160ins300 (p.?) insertion Rett syndrome [RCV000170254] ChrX:154030668..154030669 [GRCh38]
ChrX:153296119..153296120 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.1196_1236delinsAGGGGTGG (p.Pro399_Thr412delinsGlnGlyTrp) indel Rett syndrome [RCV000170255] ChrX:154030628..154030668 [GRCh38]
ChrX:153296079..153296119 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.1199_1252del (p.Pro400_Pro417del) deletion Rett syndrome [RCV000170258] ChrX:154030612..154030665 [GRCh38]
ChrX:153296063..153296116 [GRCh37]
ChrX:Xq28
likely benign|uncertain significance
NM_004992.3(MECP2):c.1165_1233del69ins21 (p.?) indel Rett syndrome [RCV000170259] ChrX:154030595..154030663 [GRCh38]
ChrX:153296046..153296114 [GRCh37]
ChrX:Xq28
uncertain significance
NM_004992.3(MECP2):c.(?_-226)_-99+?del deletion Rett syndrome [RCV000170263] ChrX:154097604..154097731 [GRCh38]
ChrX:153363061..153363188 [GRCh37]
ChrX:Xq28
uncertain significance
NM_004992.3(MECP2):c.(?_631)_(657_?)dup (p.(?)) duplication Rett syndrome [RCV000170274] ChrX:154031171..154031197 [GRCh38]
ChrX:153296622..153296648 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.1A>G (p.Met1Val) single nucleotide variant Rett syndrome [RCV000170279]|not provided [RCV003329250] ChrX:154097665 [GRCh38]
ChrX:153363122 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001110792.2(MECP2):c.23_27dup (p.Ser10fs) microsatellite Rett syndrome [RCV000170282] ChrX:154097638..154097639 [GRCh38]
ChrX:153363095..153363096 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.30delinsGA (p.Ser10fs) indel Rett syndrome [RCV000170285] ChrX:154097636 [GRCh38]
ChrX:153363093 [GRCh37]
ChrX:Xq28
pathogenic|uncertain significance
NM_001110792.2(MECP2):c.33AGG[7] (p.Gly15_Gly16dup) microsatellite Rett syndrome [RCV000170286]|Severe neonatal-onset encephalopathy with microcephaly [RCV001034236]|not provided [RCV001704232]|not specified [RCV000486852] ChrX:154097618..154097619 [GRCh38]
ChrX:153363075..153363076 [GRCh37]
ChrX:Xq28
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001110792.2(MECP2):c.47_57del (p.Gly16fs) deletion Rett syndrome [RCV000170288]|Severe neonatal-onset encephalopathy with microcephaly [RCV001245569] ChrX:154097609..154097619 [GRCh38]
ChrX:153363066..153363076 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.48_55del (p.Glu18fs) deletion Rett syndrome [RCV000170289] ChrX:154097611..154097618 [GRCh38]
ChrX:153363068..153363075 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.48_55dup (p.Glu19fs) duplication Rett syndrome [RCV000170290] ChrX:154097610..154097611 [GRCh38]
ChrX:153363067..153363068 [GRCh37]
ChrX:Xq28
pathogenic|uncertain significance
NM_001110792.2(MECP2):c.48C>T (p.Gly16=) single nucleotide variant Rett syndrome [RCV000170291]|not provided [RCV000519373] ChrX:154097618 [GRCh38]
ChrX:153363075 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.59_60del (p.Arg20fs) microsatellite Rett syndrome [RCV000170293] ChrX:154097606..154097607 [GRCh38]
ChrX:153363063..153363064 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.62+1G>A single nucleotide variant Rett syndrome [RCV000170294]|Severe neonatal-onset encephalopathy with microcephaly [RCV000558865] ChrX:154097603 [GRCh38]
ChrX:153363060 [GRCh37]
ChrX:Xq28
pathogenic|uncertain significance
NM_001110792.2(MECP2):c.62+2_62+3del microsatellite Rett syndrome [RCV000170295]|See cases [RCV002287376]|not provided [RCV001091827] ChrX:154097601..154097602 [GRCh38]
ChrX:153363058..153363059 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.1(MECP2):c.(?_1)_(62_?)del deletion Rett syndrome [RCV000170296] ChrX:154097604..154097665 [GRCh38]
ChrX:153363061..153363122 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.1089C>G (p.Pro363=) single nucleotide variant Rett syndrome [RCV003380498]|Severe neonatal-onset encephalopathy with microcephaly [RCV001459896]|not provided [RCV001582667]|not specified [RCV000170087] ChrX:154030775 [GRCh38]
ChrX:153296226 [GRCh37]
ChrX:Xq28
benign|likely benign
NM_001110792.2(MECP2):c.413+30G>A single nucleotide variant Rett syndrome [RCV003380499]|not specified [RCV000170090] ChrX:154032177 [GRCh38]
ChrX:153297628 [GRCh37]
ChrX:Xq28
benign|uncertain significance
NM_001110792.2(MECP2):c.414-70C>G single nucleotide variant not specified [RCV000170094] ChrX:154031520 [GRCh38]
ChrX:153296971 [GRCh37]
ChrX:Xq28
benign
NM_001110792.2(MECP2):c.467A>G (p.Lys156Arg) single nucleotide variant Rett syndrome [RCV003380500]|not specified [RCV000170096] ChrX:154031397 [GRCh38]
ChrX:153296848 [GRCh37]
ChrX:Xq28
benign|uncertain significance
NM_001110792.2(MECP2):c.663G>A (p.Val221=) single nucleotide variant Rett syndrome [RCV003380501]|not specified [RCV000170097] ChrX:154031201 [GRCh38]
ChrX:153296652 [GRCh37]
ChrX:Xq28
benign|uncertain significance
NM_001110792.2(MECP2):c.868G>A (p.Ala290Thr) single nucleotide variant Rett syndrome [RCV000445578]|not specified [RCV000170098] ChrX:154030996 [GRCh38]
ChrX:153296447 [GRCh37]
ChrX:Xq28
benign|likely benign
NM_001110792.2(MECP2):c.1077_*29del (p.Lys359_Ter499delinsXaa) deletion Rett syndrome [RCV003483554]|not provided [RCV000170121] ChrX:154030338..154030787 [GRCh38]
ChrX:153295789..153296238 [GRCh37]
ChrX:Xq28
pathogenic|uncertain significance
NM_001110792.2(MECP2):c.1164_1215del (p.Lys389fs) deletion not provided [RCV000170139] ChrX:154030649..154030700 [GRCh38]
ChrX:153296100..153296151 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.1165_1229del (p.Lys389fs) deletion Rett syndrome [RCV003483555]|not provided [RCV000170141] ChrX:154030635..154030699 [GRCh38]
ChrX:153296086..153296150 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic
NM_001110792.2(MECP2):c.1200_1220delinsCTGAGCCCCAGGACTTGAGCA (p.Pro401_Ser407delinsTer) indel Attention deficit hyperactivity disorder [RCV000170149]|Rett syndrome [RCV000170150] ChrX:154030644..154030664 [GRCh38]
ChrX:153296095..153296115 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.1307_1452del (p.Leu436fs) deletion Rett syndrome [RCV003483556]|not provided [RCV000170155] ChrX:154030412..154030557 [GRCh38]
ChrX:153295863..153296008 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic
NM_001110792.2(MECP2):c.1374_1379del (p.Ala459_Glu460del) deletion not provided [RCV000170158] ChrX:154030485..154030490 [GRCh38]
ChrX:153295936..153295941 [GRCh37]
ChrX:Xq28
pathogenic
NM_004992.3(MECP2):c.249_250ins7 insertion not provided [RCV000170164] ChrX:154032334..154032335 [GRCh38]
ChrX:153297785..153297786 [GRCh37]
ChrX:Xq28
pathogenic
NM_004992.3(MECP2):c.764_765ins8 insertion not provided [RCV000170213] ChrX:154031063..154031064 [GRCh38]
ChrX:153296514..153296515 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.843_*125del (p.Gly281_Ter499delinsXaa) deletion not provided [RCV000170217] ChrX:154030242..154031021 [GRCh38]
ChrX:153295693..153296472 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.1151_1237del (p.His384_Ser413delinsArg) deletion not specified [RCV000170248] ChrX:154030627..154030713 [GRCh38]
ChrX:153296078..153296164 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.1197_1436del (p.Pro400_Pro479del) deletion Rett syndrome [RCV002472329]|X-linked intellectual disability-psychosis-macroorchidism syndrome [RCV000170257] ChrX:154030428..154030667 [GRCh38]
ChrX:153295879..153296118 [GRCh37]
ChrX:Xq28
conflicting interpretations of pathogenicity|uncertain significance
NM_001110792.2(MECP2):c.1269_1279del (p.Ser423fs) deletion Rett syndrome [RCV003389411]|X-linked intellectual disability-psychosis-macroorchidism syndrome [RCV000170260] ChrX:154030585..154030595 [GRCh38]
ChrX:153296036..153296046 [GRCh37]
ChrX:Xq28
uncertain significance
NM_004992.3:c.(?_-226)_(*1_?)dup duplication X-linked intellectual disability-psychosis-macroorchidism syndrome [RCV000170262] ChrX:Xq28 uncertain significance
NM_001110792.2(MECP2):c.413A>G (p.Asn138Ser) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV000170271] ChrX:154032207 [GRCh38]
ChrX:153297658 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.6CGC[9] (p.Ala6_Ala8dup) microsatellite Inborn genetic diseases [RCV002390402]|Severe neonatal-onset encephalopathy with microcephaly [RCV001239514]|X-linked intellectual disability-psychosis-macroorchidism syndrome [RCV000170276] ChrX:154097642..154097643 [GRCh38]
ChrX:153363099..153363100 [GRCh37]
ChrX:Xq28
likely benign|uncertain significance
NM_001110792.2(MECP2):c.6CGC[8] (p.Ala7_Ala8dup) microsatellite Autism, susceptibility to, X-linked 3 [RCV001198685]|Inborn genetic diseases [RCV002408732]|Rett syndrome [RCV000714629]|Severe neonatal-onset encephalopathy with microcephaly [RCV000645135]|Severe neonatal-onset encephalopathy with microcephaly [RCV003227687]|not provided [RCV000144801]|not specified [RCV000170278] ChrX:154097642..154097643 [GRCh38]
ChrX:153363099..153363100 [GRCh37]
ChrX:Xq28
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001110792.2(MECP2):c.-27_-26delinsTT indel Rett syndrome [RCV003483557]|X-linked intellectual disability-psychosis-macroorchidism syndrome [RCV000170284] ChrX:154097691..154097692 [GRCh38]
ChrX:153363148..153363149 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.1(MECP2):c.-46_-45delGC microsatellite Rett syndrome [RCV003380502]|X-linked intellectual disability-psychosis-macroorchidism syndrome [RCV000170287] ChrX:154097710..154097711 [GRCh38]
ChrX:153363167..153363168 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.49G>A (p.Glu17Lys) single nucleotide variant Rett syndrome [RCV003483558]|X-linked intellectual disability-psychosis-macroorchidism syndrome [RCV000170292] ChrX:154097617 [GRCh38]
ChrX:153363074 [GRCh37]
ChrX:Xq28
uncertain significance
NM_004992.3(MECP2):c.-98-43_6dup duplication not specified [RCV000168677] ChrX:154092204..154092350 [GRCh38]
ChrX:153357662..153357808 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.1(MECP2):c.559_1111del553insCG (p.Lys187Argfs) indel not specified [RCV000168683] ChrX:154030753..154031305 [GRCh38]
ChrX:153296204..153296756 [GRCh37]
ChrX:Xq28
uncertain significance
NM_004992.3(MECP2):c.583G>A (p.Gly195Ser) single nucleotide variant not specified [RCV000168685] ChrX:154031245 [GRCh38]
ChrX:153296696 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.1(MECP2):c.1023_1029delTGAGAAGins13 (p.?) indel not specified [RCV000168698] ChrX:154030835..154030841 [GRCh38]
ChrX:153296286..153296292 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.1049C>G (p.Thr350Ser) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV000766082]|Severe neonatal-onset encephalopathy with microcephaly [RCV001850385]|not specified [RCV000168699] ChrX:154030815 [GRCh38]
ChrX:153296266 [GRCh37]
ChrX:Xq28
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004992.3(MECP2):c.1129A>G (p.Lys377Glu) single nucleotide variant not specified [RCV000168700] ChrX:154030699 [GRCh38]
ChrX:153296150 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.1(MECP2):c.1197_1224del28 (p.Pro400Argfs) deletion not specified [RCV000168703] ChrX:154030640..154030667 [GRCh38]
ChrX:153296091..153296118 [GRCh37]
ChrX:Xq28
uncertain significance
NM_004992.3(MECP2):c.1224G>C (p.Leu408Phe) single nucleotide variant not specified [RCV000168705] ChrX:154030604 [GRCh38]
ChrX:153296055 [GRCh37]
ChrX:Xq28
likely benign
NM_004992.3(MECP2):c.573delC (p.Ser194Alafs) deletion Rett syndrome [RCV000168684]|Rett's disorder [RCV000168684] ChrX:154031255 [GRCh38]
ChrX:153296706 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_001110792.1(MECP2):c.738_752delTGAGGGGGGTGGGGC (p.Glu247_Ala251del) deletion Rett syndrome [RCV000168688]|Rett's disorder [RCV000168688] ChrX:154031112..154031126 [GRCh38]
ChrX:153296563..153296577 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_001110792.1(MECP2):c.790_818del29 (p.Gly264Serfs) deletion Rett syndrome [RCV000168690]|Rett's disorder [RCV000168690] ChrX:154031046..154031074 [GRCh38]
ChrX:153296497..153296525 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_001110792.1(MECP2):c.853_871dup19 (p.Ala291Glyfs) duplication Rett syndrome [RCV000168693]|Rett's disorder [RCV000168693] ChrX:154030993..154031011 [GRCh38]
ChrX:153296444..153296462 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_001110792.2(MECP2):c.1200A>C (p.Pro400=) single nucleotide variant Rett syndrome [RCV001800516]|not provided [RCV000416128] ChrX:154030664 [GRCh38]
ChrX:153296115 [GRCh37]
ChrX:Xq28
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001110792.2(MECP2):c.563C>A (p.Pro188His) single nucleotide variant Inborn genetic diseases [RCV002317047]|Rett syndrome [RCV002472369]|Severe neonatal-onset encephalopathy with microcephaly [RCV001472971]|not provided [RCV000678233] ChrX:154031301 [GRCh38]
ChrX:153296752 [GRCh37]
ChrX:Xq28
likely benign|uncertain significance
NM_001110792.2(MECP2):c.287G>A (p.Arg96Gln) single nucleotide variant not provided [RCV000177221] ChrX:154032333 [GRCh38]
ChrX:153297784 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.90C>G (p.Leu30=) single nucleotide variant Rett syndrome [RCV003235098]|Severe neonatal-onset encephalopathy with microcephaly [RCV001499199]|not provided [RCV000724858] ChrX:154032530 [GRCh38]
ChrX:153297981 [GRCh37]
ChrX:Xq28
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3 copy number gain See cases [RCV000240143] ChrX:62063537..155246643 [GRCh37]
ChrX:Xq11.1-28
pathogenic
NM_001110792.2(MECP2):c.701_707dup (p.Met236fs) duplication Rett syndrome [RCV000195260] ChrX:154031156..154031157 [GRCh38]
ChrX:153296607..153296608 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.30_31del (p.Ser10fs) deletion Rett syndrome [RCV000193898] ChrX:154097635..154097636 [GRCh38]
ChrX:153363092..153363093 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.784C>T (p.Arg262Cys) single nucleotide variant MECP2-related condition [RCV003390928]|Rett syndrome [RCV003448285]|Severe neonatal-onset encephalopathy with microcephaly [RCV001043679]|not provided [RCV000757451]|not specified [RCV000192395] ChrX:154031080 [GRCh38]
ChrX:153296531 [GRCh37]
ChrX:Xq28
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001110792.2(MECP2):c.750G>A (p.Gly250=) single nucleotide variant Rett syndrome [RCV003235115]|Severe neonatal-onset encephalopathy with microcephaly [RCV001515210]|not specified [RCV000192514] ChrX:154031114 [GRCh38]
ChrX:153296565 [GRCh37]
ChrX:Xq28
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001110792.2(MECP2):c.1436C>G (p.Pro479Arg) single nucleotide variant not specified [RCV000192547] ChrX:154030428 [GRCh38]
ChrX:153295879 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.312A>G (p.Gly104=) single nucleotide variant Inborn genetic diseases [RCV002433869]|Rett syndrome [RCV002472372]|Severe neonatal-onset encephalopathy with microcephaly [RCV001523261]|not provided [RCV000645136]|not specified [RCV000192672] ChrX:154032308 [GRCh38]
ChrX:153297759 [GRCh37]
ChrX:Xq28
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001110792.2(MECP2):c.564C>T (p.Pro188=) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV002056995]|not specified [RCV000193432] ChrX:154031300 [GRCh38]
ChrX:153296751 [GRCh37]
ChrX:Xq28
benign|likely benign|uncertain significance
NM_001110792.2(MECP2):c.737C>A (p.Ala246Asp) single nucleotide variant not specified [RCV000194296] ChrX:154031127 [GRCh38]
ChrX:153296578 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.1224C>T (p.Ser408=) single nucleotide variant Inborn genetic diseases [RCV002336513]|Rett syndrome [RCV002472370]|Severe neonatal-onset encephalopathy with microcephaly [RCV001088048]|not provided [RCV000659186]|not specified [RCV000193848] ChrX:154030640 [GRCh38]
ChrX:153296091 [GRCh37]
ChrX:Xq28
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001110792.2(MECP2):c.252G>A (p.Pro84=) single nucleotide variant not specified [RCV000194007] ChrX:154032368 [GRCh38]
ChrX:153297819 [GRCh37]
ChrX:Xq28
benign
NM_001110792.2(MECP2):c.1364C>T (p.Ala455Val) single nucleotide variant Inborn genetic diseases [RCV002381654]|Severe neonatal-onset encephalopathy with microcephaly [RCV000538875]|not provided [RCV003129800]|not specified [RCV000194442] ChrX:154030500 [GRCh38]
ChrX:153295951 [GRCh37]
ChrX:Xq28
benign|uncertain significance
NM_001110792.1:c.384_1164del deletion Rett syndrome [RCV000192570] ChrX:Xq28 pathogenic
NM_001110792.2(MECP2):c.1194_*117del (p.Pro399fs) deletion Rett syndrome [RCV000193697] ChrX:154030250..154030670 [GRCh38]
ChrX:153295701..153296121 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.934_1202del (p.Val312fs) deletion Rett syndrome [RCV000195048] ChrX:154030662..154030930 [GRCh38]
ChrX:153296113..153296381 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.1043_1230del (p.Leu348fs) deletion Rett syndrome [RCV000195245]|Severe neonatal-onset encephalopathy with microcephaly [RCV003114347] ChrX:154030634..154030821 [GRCh38]
ChrX:153296085..153296272 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.1231C>T (p.Pro411Ser) single nucleotide variant Inborn genetic diseases [RCV002336514]|Rett syndrome [RCV002472371]|Severe neonatal-onset encephalopathy with microcephaly [RCV001521814]|not specified [RCV000192988] ChrX:154030633 [GRCh38]
ChrX:153296084 [GRCh37]
ChrX:Xq28
benign|likely benign|uncertain significance
NM_001110792.2(MECP2):c.83_93del (p.Gln28fs) deletion Rett syndrome [RCV000193568] ChrX:154032527..154032537 [GRCh38]
ChrX:153297978..153297988 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.1273T>C (p.Cys425Arg) single nucleotide variant Rett syndrome [RCV003238732]|not specified [RCV000194480] ChrX:154030591 [GRCh38]
ChrX:153296042 [GRCh37]
ChrX:Xq28
conflicting interpretations of pathogenicity|uncertain significance
NM_001110792.2(MECP2):c.1204C>G (p.Pro402Ala) single nucleotide variant not specified [RCV000194805] ChrX:154030660 [GRCh38]
ChrX:153296111 [GRCh37]
ChrX:Xq28
likely benign
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 copy number gain See cases [RCV000239798] ChrX:13147668..155250222 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
NM_004992.3(MECP2):c.1276_*113del299ins3 indel Rett syndrome [RCV000193147]|not provided [RCV000170156] ChrX:154030254..154030552 [GRCh38]
ChrX:153295705..153296003 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.725_792del (p.Pro242fs) deletion Rett syndrome [RCV000193082]|not provided [RCV000170209] ChrX:154031072..154031139 [GRCh38]
ChrX:153296523..153296590 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic
NM_004992.3(MECP2):c.763_1383del621ins15 (p.?) indel Rett syndrome [RCV000192387]|not provided [RCV000170212] ChrX:154030445..154031065 [GRCh38]
ChrX:153295896..153296516 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.870_975del (p.Ala291fs) deletion Rett syndrome [RCV000193006]|not provided [RCV000170221] ChrX:154030889..154030994 [GRCh38]
ChrX:153296340..153296445 [GRCh37]
ChrX:Xq28
pathogenic
NM_004992.3(MECP2):c.943_1140del198ins6 indel Rett syndrome [RCV000192590]|not provided [RCV000170232] ChrX:154030688..154030885 [GRCh38]
ChrX:153296139..153296336 [GRCh37]
ChrX:Xq28
pathogenic
NC_000023.10:g.(?_153295798)_(153298028_?)del deletion Severe neonatal-onset encephalopathy with microcephaly [RCV000546324] ChrX:153295798..153298028 [GRCh37]
ChrX:Xq28
pathogenic
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000234859] ChrX:152730000..153020000 [NCBI36]
ChrX:Xq28
pathogenic
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000234878] ChrX:139330000..154580000 [NCBI36]
ChrX:Xq27.1-28
pathogenic|likely pathogenic
NM_001110792.2(MECP2):c.686C>T (p.Pro229Leu) single nucleotide variant Rett syndrome [RCV000225456]|Severe neonatal-onset encephalopathy with microcephaly [RCV001056633] ChrX:154031178 [GRCh38]
ChrX:153296629 [GRCh37]
ChrX:Xq28
likely pathogenic|uncertain significance
NM_001110792.2(MECP2):c.714T>G (p.Phe238Leu) single nucleotide variant Rett syndrome [RCV000225601] ChrX:154031150 [GRCh38]
ChrX:153296601 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.414-6C>G single nucleotide variant Rett syndrome [RCV000225484]|Severe neonatal-onset encephalopathy with microcephaly [RCV002055002]|not provided [RCV001711619] ChrX:154031456 [GRCh38]
ChrX:153296907 [GRCh37]
ChrX:Xq28
likely pathogenic|benign|likely benign
NM_001110792.2(MECP2):c.414-20C>G single nucleotide variant Rett syndrome [RCV000225668]|Severe neonatal-onset encephalopathy with microcephaly [RCV002057231] ChrX:154031470 [GRCh38]
ChrX:153296921 [GRCh37]
ChrX:Xq28
benign
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq28(chrX:153047627-153555804)x2 copy number gain See cases [RCV000239929] ChrX:153047627..153555804 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001110792.2(MECP2):c.1183C>T (p.Leu395Phe) single nucleotide variant Rett syndrome [RCV003448328]|Severe neonatal-onset encephalopathy with microcephaly [RCV001210472]|not provided [RCV001508974]|not specified [RCV000600874] ChrX:154030681 [GRCh38]
ChrX:153296132 [GRCh37]
ChrX:Xq28
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001110792.2(MECP2):c.648dup (p.Glu217fs) duplication Inborn genetic diseases [RCV000623038] ChrX:154031215..154031216 [GRCh38]
ChrX:153296666..153296667 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001110792.2(MECP2):c.1219A>G (p.Ser407Gly) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV001352373]|not provided [RCV000999553] ChrX:154030645 [GRCh38]
ChrX:153296096 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq28(chrX:152993910-153555804)x2 copy number gain See cases [RCV000240396] ChrX:152993910..153555804 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001110792.2(MECP2):c.90C>A (p.Leu30=) single nucleotide variant not specified [RCV000246535] ChrX:154032530 [GRCh38]
ChrX:153297981 [GRCh37]
ChrX:Xq28
likely benign
GRCh37/hg19 Xq27.3-28(chrX:142174780-155250222)x2 copy number gain See cases [RCV000240530] ChrX:142174780..155250222 [GRCh37]
ChrX:Xq27.3-28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3 copy number gain See cases [RCV000240148] ChrX:62063537..155250222 [GRCh37]
ChrX:Xq11.1-28
pathogenic
GRCh37/hg19 Xq25-28(chrX:121022022-155211482)x1 copy number loss See cases [RCV000240337] ChrX:121022022..155211482 [GRCh37]
ChrX:Xq25-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001110792.2(MECP2):c.1085G>A (p.Ser362Asn) single nucleotide variant not provided [RCV000522036] ChrX:154030779 [GRCh38]
ChrX:153296230 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.1122dup (p.Lys375fs) duplication Inborn genetic diseases [RCV002429211]|Seizure [RCV002274968]|Severe neonatal-onset encephalopathy with microcephaly [RCV001207928]|X-linked intellectual disability-psychosis-macroorchidism syndrome [RCV002470836]|not provided [RCV000284365] ChrX:154030741..154030742 [GRCh38]
ChrX:153296192..153296193 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.361A>G (p.Lys121Glu) single nucleotide variant not provided [RCV000314570] ChrX:154032259 [GRCh38]
ChrX:153297710 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.1483G>A (p.Glu495Lys) single nucleotide variant Inborn genetic diseases [RCV000623358]|Severe neonatal-onset encephalopathy with microcephaly [RCV000816982]|not provided [RCV000352165]|not specified [RCV001251381] ChrX:154030381 [GRCh38]
ChrX:153295832 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.1410C>T (p.Arg470=) single nucleotide variant Rett syndrome [RCV003235181]|Severe neonatal-onset encephalopathy with microcephaly [RCV001517504]|not provided [RCV000393143] ChrX:154030454 [GRCh38]
ChrX:153295905 [GRCh37]
ChrX:Xq28
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001110792.2(MECP2):c.1033G>A (p.Gly345Arg) single nucleotide variant not provided [RCV003221705] ChrX:154030831 [GRCh38]
ChrX:153296282 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.1243C>G (p.Pro415Ala) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV001204345]|not provided [RCV000487852] ChrX:154030621 [GRCh38]
ChrX:153296072 [GRCh37]
ChrX:Xq28
likely benign|uncertain significance
NM_001110792.2(MECP2):c.105C>G (p.Asp35Glu) single nucleotide variant not provided [RCV003314837] ChrX:154032515 [GRCh38]
ChrX:153297966 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.1081_1131del (p.Ser361_Glu377del) deletion not provided [RCV003321234] ChrX:154030733..154030783 [GRCh38]
ChrX:153296184..153296234 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.1149_1237del (p.His383fs) deletion Rett syndrome [RCV003315116] ChrX:154030627..154030715 [GRCh38]
ChrX:153296078..153296166 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.1207C>G (p.Pro403Ala) single nucleotide variant Inborn genetic diseases [RCV003372730]|not specified [RCV000490157] ChrX:154030657 [GRCh38]
ChrX:153296108 [GRCh37]
ChrX:Xq28
likely benign|uncertain significance
NM_001110792.2(MECP2):c.-29A>T single nucleotide variant not provided [RCV000521708] ChrX:154097694 [GRCh38]
ChrX:153363151 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.697C>G (p.Leu233Val) single nucleotide variant not specified [RCV000605015] ChrX:154031167 [GRCh38]
ChrX:153296618 [GRCh37]
ChrX:Xq28
likely benign
NM_001110792.2(MECP2):c.656T>C (p.Val219Ala) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV002522026]|not provided [RCV000361062] ChrX:154031208 [GRCh38]
ChrX:153296659 [GRCh37]
ChrX:Xq28
likely benign|uncertain significance
NM_001110792.2(MECP2):c.1123_1124insC (p.Lys375fs) insertion Rett syndrome [RCV000585814] ChrX:154030740..154030741 [GRCh38]
ChrX:153296191..153296192 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_001110792.2(MECP2):c.1017C>T (p.Thr339=) single nucleotide variant not specified [RCV000587369] ChrX:154030847 [GRCh38]
ChrX:153296298 [GRCh37]
ChrX:Xq28
likely benign|uncertain significance
NM_001110792.2(MECP2):c.991G>A (p.Val331Met) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV000768019] ChrX:154030873 [GRCh38]
ChrX:153296324 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.1386C>G (p.Tyr462Ter) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV000585834] ChrX:154030478 [GRCh38]
ChrX:153295929 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_001110792.2(MECP2):c.271G>T (p.Ala91Ser) single nucleotide variant not provided [RCV000587702] ChrX:154032349 [GRCh38]
ChrX:153297800 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.523G>T (p.Gly175Trp) single nucleotide variant not provided [RCV000592531] ChrX:154031341 [GRCh38]
ChrX:153296792 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_001110792.2(MECP2):c.62+2T>G single nucleotide variant Rett syndrome [RCV001507030]|not provided [RCV000598684] ChrX:154097602 [GRCh38]
ChrX:153363059 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.377_385del (p.Gly126_Ser128del) deletion Rett syndrome [RCV000655939] ChrX:154032235..154032243 [GRCh38]
ChrX:153297686..153297694 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.1155dup (p.Glu386fs) duplication not provided [RCV000598988] ChrX:154030708..154030709 [GRCh38]
ChrX:153296159..153296160 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.423A>G (p.Gly141=) single nucleotide variant not provided [RCV000585076] ChrX:154031441 [GRCh38]
ChrX:153296892 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.13G>A (p.Ala5Thr) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV001860137]|not provided [RCV000586039] ChrX:154097653 [GRCh38]
ChrX:153363110 [GRCh37]
ChrX:Xq28
uncertain significance
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
NM_001110792.2(MECP2):c.1195delinsAGCCCACCTCCCA (p.Pro399delinsSerProProProThr) indel not provided [RCV000589076] ChrX:154030669 [GRCh38]
ChrX:153296120 [GRCh37]
ChrX:Xq28
uncertain significance
NM_004992.3(MECP2):c.1009_1294del286ins41 (p.?) indel not provided [RCV000599338] ChrX:154030534..154030819 [GRCh38]
ChrX:153295985..153296270 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.752C>A (p.Ala251Asp) single nucleotide variant Rett syndrome [RCV001175142]|not provided [RCV000589763] ChrX:154031112 [GRCh38]
ChrX:153296563 [GRCh37]
ChrX:Xq28
likely benign|uncertain significance
NM_001110792.2(MECP2):c.528C>T (p.Ser176=) single nucleotide variant not specified [RCV000590017] ChrX:154031336 [GRCh38]
ChrX:153296787 [GRCh37]
ChrX:Xq28
likely benign|uncertain significance
NM_001110792.2(MECP2):c.959C>G (p.Thr320Ser) single nucleotide variant not provided [RCV000590302] ChrX:154030905 [GRCh38]
ChrX:153296356 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.414-10G>T single nucleotide variant not provided [RCV000596908] ChrX:154031460 [GRCh38]
ChrX:153296911 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.1(MECP2):c.47_48insAGG (p.Gly16_Glu17insGly) insertion Severe neonatal-onset encephalopathy with microcephaly [RCV000626137] ChrX:154097618..154097619 [GRCh38]
ChrX:153363075..153363076 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.731G>A (p.Gly244Asp) single nucleotide variant not specified [RCV000414520] ChrX:154031133 [GRCh38]
ChrX:153296584 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.1282G>T (p.Glu428Ter) single nucleotide variant not provided [RCV000415905] ChrX:154030582 [GRCh38]
ChrX:153296033 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_001110792.2(MECP2):c.368G>A (p.Arg123Lys) single nucleotide variant Rett syndrome [RCV000415409]|not provided [RCV003144255] ChrX:154032252 [GRCh38]
ChrX:153297703 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_001110792.2(MECP2):c.988dup (p.Glu330fs) duplication Rett syndrome [RCV000790460] ChrX:154030875..154030876 [GRCh38]
ChrX:153296326..153296327 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.851del (p.Pro284fs) deletion not provided [RCV000413774] ChrX:154031013 [GRCh38]
ChrX:153296464 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_004992.4(MECP2):c.20G>A (p.Gly7Glu) single nucleotide variant not provided [RCV000413833] ChrX:154092190 [GRCh38]
ChrX:153357648 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic
NM_001110792.2(MECP2):c.413+2dup duplication not specified [RCV000413817] ChrX:154032204..154032205 [GRCh38]
ChrX:153297655..153297656 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 copy number gain See cases [RCV000449437] ChrX:168546..154930047 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq21.33-28(chrX:94043221-155246585)x1 copy number loss See cases [RCV000449365] ChrX:94043221..155246585 [GRCh37]
ChrX:Xq21.33-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.1-28(chrX:68701338-155233731)x3 copy number gain See cases [RCV000446471] ChrX:68701338..155233731 [GRCh37]
ChrX:Xq13.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq28(chrX:152228560-154930047)x2 copy number gain See cases [RCV000447331] ChrX:152228560..154930047 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq13.3-28(chrX:74787886-155233731)x1 copy number loss See cases [RCV000447490] ChrX:74787886..155233731 [GRCh37]
ChrX:Xq13.3-28
pathogenic
GRCh37/hg19 Xq28(chrX:152970475-153524157)x2 copy number gain See cases [RCV000447506] ChrX:152970475..153524157 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58140271-155046703)x3 copy number gain See cases [RCV000446151] ChrX:58140271..155046703 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 copy number gain See cases [RCV000446310] ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq28(chrX:150253008-155233731)x1 copy number loss See cases [RCV000446761] ChrX:150253008..155233731 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001110792.2(MECP2):c.*16A>G single nucleotide variant not specified [RCV000420709] ChrX:154030351 [GRCh38]
ChrX:153295802 [GRCh37]
ChrX:Xq28
likely benign
NM_001110792.2(MECP2):c.414T>C (p.Asn138=) single nucleotide variant not specified [RCV000431102] ChrX:154031450 [GRCh38]
ChrX:153296901 [GRCh37]
ChrX:Xq28
likely benign
NM_001110792.2(MECP2):c.877G>A (p.Ala293Thr) single nucleotide variant Inborn genetic diseases [RCV003168669]|Rett syndrome [RCV003448307]|Severe neonatal-onset encephalopathy with microcephaly [RCV001519911]|not provided [RCV000873957]|not specified [RCV000431253] ChrX:154030987 [GRCh38]
ChrX:153296438 [GRCh37]
ChrX:Xq28
benign|likely benign|conflicting interpretations of pathogenicity
NM_001110792.2(MECP2):c.723G>T (p.Ser241=) single nucleotide variant Inborn genetic diseases [RCV002318492]|Severe neonatal-onset encephalopathy with microcephaly [RCV001087926]|not provided [RCV000438000] ChrX:154031141 [GRCh38]
ChrX:153296592 [GRCh37]
ChrX:Xq28
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001110792.2(MECP2):c.1215C>T (p.Pro405=) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV001430855]|not provided [RCV000865189] ChrX:154030649 [GRCh38]
ChrX:153296100 [GRCh37]
ChrX:Xq28
likely benign
NM_001110792.2(MECP2):c.801_1194del (p.Lys268fs) deletion not provided [RCV000445583] ChrX:154030670..154031063 [GRCh38]
ChrX:153296121..153296514 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.-43C>G single nucleotide variant not specified [RCV000427836] ChrX:154097708 [GRCh38]
ChrX:153363165 [GRCh37]
ChrX:Xq28
likely benign
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001110792.2(MECP2):c.1239C>T (p.Ser413=) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV001402295]|not provided [RCV001720136] ChrX:154030625 [GRCh38]
ChrX:153296076 [GRCh37]
ChrX:Xq28
likely benign
NM_001110792.2(MECP2):c.1130_1174del (p.Glu377_Pro391del) deletion Rett syndrome [RCV000445564] ChrX:154030690..154030734 [GRCh38]
ChrX:153296141..153296185 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_001110792.2(MECP2):c.1216_1251del (p.Glu406_Pro417del) deletion Inborn genetic diseases [RCV001267433]|Severe neonatal-onset encephalopathy with microcephaly [RCV001339351]|not provided [RCV000766764]|not specified [RCV000445565] ChrX:154030613..154030648 [GRCh38]
ChrX:153296064..153296099 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.1060_1061insAG (p.Pro354fs) insertion Rett syndrome [RCV000445567] ChrX:154030803..154030804 [GRCh38]
ChrX:153296254..153296255 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.714del (p.Gln239fs) deletion Rett syndrome [RCV000445569] ChrX:154031150 [GRCh38]
ChrX:153296601 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.1125_1165del (p.Lys376fs) deletion Rett syndrome [RCV000445572] ChrX:154030699..154030739 [GRCh38]
ChrX:153296150..153296190 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.504C>A (p.Asp168Glu) single nucleotide variant Rett syndrome [RCV000445574] ChrX:154031360 [GRCh38]
ChrX:153296811 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_001110792.2(MECP2):c.349A>C (p.Thr117Pro) single nucleotide variant not specified [RCV000445577] ChrX:154032271 [GRCh38]
ChrX:153297722 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.1191_1244del (p.Leu398_Pro415del) deletion Rett syndrome [RCV000445580] ChrX:154030620..154030673 [GRCh38]
ChrX:153296071..153296124 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.1184T>C (p.Leu395Pro) single nucleotide variant Rett syndrome [RCV000445581] ChrX:154030680 [GRCh38]
ChrX:153296131 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.1448G>C (p.Arg483Thr) single nucleotide variant not provided [RCV001810891]|not specified [RCV000421418] ChrX:154030416 [GRCh38]
ChrX:153295867 [GRCh37]
ChrX:Xq28
likely benign|uncertain significance
NM_001110792.2(MECP2):c.1065G>C (p.Gly355=) single nucleotide variant not specified [RCV000442435] ChrX:154030799 [GRCh38]
ChrX:153296250 [GRCh37]
ChrX:Xq28
likely benign
NM_001110792.2(MECP2):c.62+5300C>G single nucleotide variant not specified [RCV000442505] ChrX:154092304 [GRCh38]
ChrX:153357762 [GRCh37]
ChrX:Xq28
likely benign
NM_001110792.2(MECP2):c.1124A>C (p.Lys375Thr) single nucleotide variant not provided [RCV000419878] ChrX:154030740 [GRCh38]
ChrX:153296191 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.*1C>G single nucleotide variant not provided [RCV001718845] ChrX:154030366 [GRCh38]
ChrX:153295817 [GRCh37]
ChrX:Xq28
likely benign
NM_001110792.2(MECP2):c.1240C>A (p.Pro414Thr) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV000811839]|not provided [RCV000425226] ChrX:154030624 [GRCh38]
ChrX:153296075 [GRCh37]
ChrX:Xq28
benign|likely benign|uncertain significance
NM_001110792.2(MECP2):c.753C>A (p.Ala251=) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV002524890]|not specified [RCV000435693] ChrX:154031111 [GRCh38]
ChrX:153296562 [GRCh37]
ChrX:Xq28
likely benign
NM_001110792.2(MECP2):c.*13C>T single nucleotide variant Inborn genetic diseases [RCV002436250]|not specified [RCV000443181] ChrX:154030354 [GRCh38]
ChrX:153295805 [GRCh37]
ChrX:Xq28
benign|likely benign
NM_001110792.2(MECP2):c.1098C>T (p.Arg366=) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV002524772]|not provided [RCV000419502] ChrX:154030766 [GRCh38]
ChrX:153296217 [GRCh37]
ChrX:Xq28
benign|likely benign
GRCh37/hg19 Xq22.3-28(chrX:105694656-155224707)x1 copy number loss See cases [RCV000445891] ChrX:105694656..155224707 [GRCh37]
ChrX:Xq22.3-28
pathogenic
NM_001110792.2(MECP2):c.943A>G (p.Ile315Val) single nucleotide variant not provided [RCV000438431] ChrX:154030921 [GRCh38]
ChrX:153296372 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_001110792.2(MECP2):c.1168G>A (p.Ala390Thr) single nucleotide variant Rett syndrome [RCV003328336]|Severe neonatal-onset encephalopathy with microcephaly [RCV001851034]|not specified [RCV000420177] ChrX:154030696 [GRCh38]
ChrX:153296147 [GRCh37]
ChrX:Xq28
likely benign|uncertain significance
NM_001110792.2(MECP2):c.1077G>A (p.Lys359=) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV000920267]|not specified [RCV000437542] ChrX:154030787 [GRCh38]
ChrX:153296238 [GRCh37]
ChrX:Xq28
likely benign
GRCh37/hg19 Xq28(chrX:152886474-153368990)x2 copy number gain See cases [RCV000448796] ChrX:152886474..153368990 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss See cases [RCV000448393] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq25-28(chrX:126773628-155233731)x1 copy number loss See cases [RCV000448724] ChrX:126773628..155233731 [GRCh37]
ChrX:Xq25-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001110792.2(MECP2):c.951G>T (p.Lys317Asn) single nucleotide variant Focal epilepsy [RCV000416950] ChrX:154030913 [GRCh38]
ChrX:153296364 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_001110792.2(MECP2):c.1147dup (p.His383fs) duplication X-linked intellectual disability-psychosis-macroorchidism syndrome [RCV000417086] ChrX:154030716..154030717 [GRCh38]
ChrX:153296167..153296168 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq26.3-28(chrX:134114063-155233731)x1 copy number loss See cases [RCV000448865] ChrX:134114063..155233731 [GRCh37]
ChrX:Xq26.3-28
pathogenic
NM_001110792.2(MECP2):c.1037_1219del (p.Lys346_Glu406del) deletion not provided [RCV000481394] ChrX:154030645..154030827 [GRCh38]
ChrX:153296096..153296278 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_001110792.2(MECP2):c.946A>C (p.Lys316Gln) single nucleotide variant not provided [RCV000482101] ChrX:154030918 [GRCh38]
ChrX:153296369 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.1194_*3444del (p.Pro399fs) deletion Severe neonatal-onset encephalopathy with microcephaly [RCV000467463] ChrX:154026923..154030670 [GRCh38]
ChrX:153292374..153296121 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.726del (p.Gly244fs) deletion Rett syndrome [RCV001251834]|Severe neonatal-onset encephalopathy with microcephaly [RCV002526534]|not provided [RCV000482709] ChrX:154031138 [GRCh38]
ChrX:153296589 [GRCh37]
ChrX:Xq28
pathogenic
NC_000023.10:g.(?_153287264)_(153363188_?)dup duplication Angelman syndrome [RCV000467623] ChrX:153287264..153363188 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.41_57dup (p.Arg20fs) duplication Severe neonatal-onset encephalopathy with microcephaly [RCV000464233]|not provided [RCV001591077] ChrX:154097608..154097609 [GRCh38]
ChrX:153363065..153363066 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.563C>T (p.Pro188Leu) single nucleotide variant Rett syndrome [RCV002244934]|Severe neonatal-onset encephalopathy with microcephaly [RCV000467894] ChrX:154031301 [GRCh38]
ChrX:153296752 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.597C>A (p.Gly199=) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV000457241] ChrX:154031267 [GRCh38]
ChrX:153296718 [GRCh37]
ChrX:Xq28
likely benign
NM_001110792.2(MECP2):c.44_49dup (p.Gly15_Gly16dup) duplication Severe neonatal-onset encephalopathy with microcephaly [RCV001297055]|not provided [RCV001704638] ChrX:154097616..154097617 [GRCh38]
ChrX:153363073..153363074 [GRCh37]
ChrX:Xq28
likely benign|uncertain significance
NM_001110792.2(MECP2):c.456G>A (p.Ala152=) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV000472603]|not specified [RCV000613617] ChrX:154031408 [GRCh38]
ChrX:153296859 [GRCh37]
ChrX:Xq28
likely benign
NM_001110792.2(MECP2):c.412A>G (p.Asn138Asp) single nucleotide variant not provided [RCV000478123] ChrX:154032208 [GRCh38]
ChrX:153297659 [GRCh37]
ChrX:Xq28
likely pathogenic|uncertain significance
NM_001110792.2(MECP2):c.771C>G (p.Val257=) single nucleotide variant Inborn genetic diseases [RCV002383867]|Severe neonatal-onset encephalopathy with microcephaly [RCV000457731]|not provided [RCV001672782]|not specified [RCV000781522] ChrX:154031093 [GRCh38]
ChrX:153296544 [GRCh37]
ChrX:Xq28
benign|likely benign
NM_001110792.2(MECP2):c.846A>G (p.Arg282=) single nucleotide variant Inborn genetic diseases [RCV002418452]|Severe neonatal-onset encephalopathy with microcephaly [RCV001521217]|not provided [RCV000465721] ChrX:154031018 [GRCh38]
ChrX:153296469 [GRCh37]
ChrX:Xq28
benign|likely benign
NM_004992.3(MECP2):c.-114_-113insAGGAGG insertion not specified [RCV000486852] ChrX:154097618..154097619 [GRCh38]
ChrX:153363075..153363076 [GRCh37]
ChrX:Xq28
likely benign
NM_001110792.2(MECP2):c.486G>C (p.Leu162=) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV001482270] ChrX:154031378 [GRCh38]
ChrX:153296829 [GRCh37]
ChrX:Xq28
likely benign
NM_001110792.2(MECP2):c.289C>T (p.Arg97Cys) single nucleotide variant Rett syndrome [RCV001775123]|Severe neonatal-onset encephalopathy with microcephaly [RCV002525978]|not provided [RCV000487257] ChrX:154032331 [GRCh38]
ChrX:153297782 [GRCh37]
ChrX:Xq28
likely pathogenic|benign|uncertain significance
NM_001110792.2(MECP2):c.1245del (p.Glu416fs) deletion not provided [RCV000480265] ChrX:154030619 [GRCh38]
ChrX:153296070 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic
GRCh37/hg19 Xq28(chrX:151201777-154741703)x2 copy number gain See cases [RCV000510478] ChrX:151201777..154741703 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.1102_1202del (p.Ser369fs) deletion Rett syndrome [RCV000504131] ChrX:154030662..154030762 [GRCh38]
ChrX:153296113..153296213 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.1270_1373del (p.Val424fs) deletion Rett syndrome [RCV000498005] ChrX:154030491..154030594 [GRCh38]
ChrX:153295942..153296045 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.251del (p.Pro84fs) deletion Rett syndrome [RCV000504294] ChrX:154032369 [GRCh38]
ChrX:153297820 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.860_861del (p.Val287fs) microsatellite Rett syndrome [RCV000498631] ChrX:154031003..154031004 [GRCh38]
ChrX:153296454..153296455 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.1455G>C (p.Glu485Asp) single nucleotide variant Rett syndrome [RCV003448315]|Severe neonatal-onset encephalopathy with microcephaly [RCV001455468]|not provided [RCV000497392] ChrX:154030409 [GRCh38]
ChrX:153295860 [GRCh37]
ChrX:Xq28
benign|likely benign|uncertain significance
NM_001110792.2(MECP2):c.860T>C (p.Val287Ala) single nucleotide variant Inborn genetic diseases [RCV002431445]|Severe neonatal-onset encephalopathy with microcephaly [RCV001049497]|not provided [RCV000497544] ChrX:154031004 [GRCh38]
ChrX:153296455 [GRCh37]
ChrX:Xq28
likely benign|uncertain significance
NM_001110792.2(MECP2):c.571C>G (p.Pro191Ala) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV001070300]|not provided [RCV000497938] ChrX:154031293 [GRCh38]
ChrX:153296744 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.94G>C (p.Gly32Arg) single nucleotide variant not specified [RCV000500533] ChrX:154032526 [GRCh38]
ChrX:153297977 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.1177C>T (p.Pro393Ser) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV002524071]|not provided [RCV000498332] ChrX:154030687 [GRCh38]
ChrX:153296138 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq28(chrX:153097608-153681801)x2 copy number gain See cases [RCV000510362] ChrX:153097608..153681801 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.389G>C (p.Gly130Ala) single nucleotide variant not provided [RCV000498617] ChrX:154032231 [GRCh38]
ChrX:153297682 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_001110792.2(MECP2):c.955A>G (p.Lys319Glu) single nucleotide variant not provided [RCV000493529] ChrX:154030909 [GRCh38]
ChrX:153296360 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_001110792.2(MECP2):c.1244dup (p.Pro415_Glu416insTer) duplication Autism, susceptibility to, X-linked 3 [RCV001197201]|Rett syndrome [RCV002226465]|Severe neonatal-onset encephalopathy with microcephaly [RCV001231788]|not provided [RCV000493742] ChrX:154030619..154030620 [GRCh38]
ChrX:153296070..153296071 [GRCh37]
ChrX:Xq28
pathogenic|uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:55000501-155230750)x3 copy number gain See cases [RCV000511787] ChrX:55000501..155230750 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_001110792.2(MECP2):c.1120C>T (p.Pro374Ser) single nucleotide variant Intellectual disability [RCV001257760]|Rett syndrome [RCV003448314]|Severe neonatal-onset encephalopathy with microcephaly [RCV001312686]|not provided [RCV000493837] ChrX:154030744 [GRCh38]
ChrX:153296195 [GRCh37]
ChrX:Xq28
likely benign|uncertain significance
GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1 copy number loss See cases [RCV000511413] ChrX:31088082..155233731 [GRCh37]
ChrX:Xp21.2-q28
pathogenic|uncertain significance
GRCh37/hg19 Xq23-28(chrX:112474054-155233731)x1 copy number loss See cases [RCV000511572] ChrX:112474054..155233731 [GRCh37]
ChrX:Xq23-28
pathogenic
GRCh37/hg19 Xq24-28(chrX:116621104-155233731)x1 copy number loss See cases [RCV000511936] ChrX:116621104..155233731 [GRCh37]
ChrX:Xq24-28
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:79862302-155233731)x1 copy number loss See cases [RCV000511482] ChrX:79862302..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq21.31-28(chrX:86900388-155233731)x1 copy number loss See cases [RCV000511490] ChrX:86900388..155233731 [GRCh37]
ChrX:Xq21.31-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57511767-155233731)x3 copy number gain See cases [RCV000510826] ChrX:57511767..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56457791-155233731)x3 copy number gain See cases [RCV000511307] ChrX:56457791..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq27.3-28(chrX:146232592-155233731)x1 copy number loss See cases [RCV000511228] ChrX:146232592..155233731 [GRCh37]
ChrX:Xq27.3-28
pathogenic
NM_001110792.2(MECP2):c.1458T>C (p.Pro486=) single nucleotide variant not provided [RCV000712282]|not specified [RCV000601197] ChrX:154030406 [GRCh38]
ChrX:153295857 [GRCh37]
ChrX:Xq28
likely benign|uncertain significance
GRCh37/hg19 Xq21.1-28(chrX:78230501-155233731)x1 copy number loss See cases [RCV000510820] ChrX:78230501..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xq28(chrX:151963528-155233731)x1 copy number loss See cases [RCV000510866] ChrX:151963528..155233731 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:151311551-155233731)x1 copy number loss See cases [RCV000510920] ChrX:151311551..155233731 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:153253477-153438781)x3 copy number gain See cases [RCV000510923] ChrX:153253477..153438781 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq26.3-28(chrX:133944147-155233731)x3 copy number gain See cases [RCV000511034] ChrX:133944147..155233731 [GRCh37]
ChrX:Xq26.3-28
pathogenic
NM_001110792.2(MECP2):c.1138C>G (p.His380Asp) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV000645115] ChrX:154030726 [GRCh38]
ChrX:153296177 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.737C>T (p.Ala246Val) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV000645116] ChrX:154031127 [GRCh38]
ChrX:153296578 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.286C>T (p.Arg96Trp) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV000645117]|not provided [RCV001558139] ChrX:154032334 [GRCh38]
ChrX:153297785 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.1384dup (p.Tyr462fs) duplication Severe neonatal-onset encephalopathy with microcephaly [RCV000645118] ChrX:154030479..154030480 [GRCh38]
ChrX:153295930..153295931 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.1325C>T (p.Pro442Leu) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV001520075] ChrX:154030539 [GRCh38]
ChrX:153295990 [GRCh37]
ChrX:Xq28
benign|uncertain significance
NM_001110792.2(MECP2):c.539G>C (p.Arg180Pro) single nucleotide variant not provided [RCV003318150] ChrX:154031325 [GRCh38]
ChrX:153296776 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.44G>A (p.Gly15Glu) single nucleotide variant not specified [RCV000606190] ChrX:154097622 [GRCh38]
ChrX:153363079 [GRCh37]
ChrX:Xq28
likely benign
NM_001110792.2(MECP2):c.1055dup (p.Ser353fs) duplication Severe neonatal-onset encephalopathy with microcephaly [RCV000534765] ChrX:154030808..154030809 [GRCh38]
ChrX:153296259..153296260 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.62+20C>G single nucleotide variant not specified [RCV000606247] ChrX:154097584 [GRCh38]
ChrX:153363041 [GRCh37]
ChrX:Xq28
likely benign
NM_001110792.2(MECP2):c.953G>C (p.Arg318Pro) single nucleotide variant Inborn genetic diseases [RCV000623502]|Severe neonatal-onset encephalopathy with microcephaly [RCV002531911] ChrX:154030911 [GRCh38]
ChrX:153296362 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic
NM_001110792.2(MECP2):c.793delinsTT (p.Arg265fs) indel Rett syndrome [RCV003317024] ChrX:154031071 [GRCh38]
ChrX:153296522 [GRCh37]
ChrX:Xq28
likely pathogenic
GRCh37/hg19 Xq28(chrX:153138672-153665655) copy number gain Microcytic anemia [RCV000626549] ChrX:153138672..153665655 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.1200_1220del (p.Pro401_Ser407del) deletion Severe neonatal-onset encephalopathy with microcephaly [RCV000645109] ChrX:154030644..154030664 [GRCh38]
ChrX:153296095..153296115 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.531C>T (p.Pro177=) single nucleotide variant Inborn genetic diseases [RCV002334145]|Severe neonatal-onset encephalopathy with microcephaly [RCV000645125] ChrX:154031333 [GRCh38]
ChrX:153296784 [GRCh37]
ChrX:Xq28
benign|likely benign
NM_001110792.2(MECP2):c.1143T>C (p.His381=) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV000645131] ChrX:154030721 [GRCh38]
ChrX:153296172 [GRCh37]
ChrX:Xq28
likely benign
NC_000023.10:g.(?_153295726)_(153786885_?)dup duplication Severe neonatal-onset encephalopathy with microcephaly [RCV000645139] ChrX:153295726..153786885 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.414-3C>T single nucleotide variant Rett syndrome [RCV000625805]|Severe neonatal-onset encephalopathy with microcephaly [RCV001034244] ChrX:154031453 [GRCh38]
ChrX:153296904 [GRCh37]
ChrX:Xq28
likely pathogenic|benign
NM_001110792.2(MECP2):c.820C>G (p.Gln274Glu) single nucleotide variant Inborn genetic diseases [RCV000624768] ChrX:154031044 [GRCh38]
ChrX:153296495 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.348G>T (p.Trp116Cys) single nucleotide variant Inborn genetic diseases [RCV000624621] ChrX:154032272 [GRCh38]
ChrX:153297723 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_001110792.2(MECP2):c.918A>G (p.Arg306=) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV001517219]|not provided [RCV001712690] ChrX:154030946 [GRCh38]
ChrX:153296397 [GRCh37]
ChrX:Xq28
benign|likely benign
NM_001110792.2(MECP2):c.1170C>T (p.Ala390=) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV002062845]|not specified [RCV000615597] ChrX:154030694 [GRCh38]
ChrX:153296145 [GRCh37]
ChrX:Xq28
likely benign
NM_001110792.2(MECP2):c.1230C>T (p.Asp410=) single nucleotide variant Inborn genetic diseases [RCV002311959]|Severe neonatal-onset encephalopathy with microcephaly [RCV002064352]|not provided [RCV001719081] ChrX:154030634 [GRCh38]
ChrX:153296085 [GRCh37]
ChrX:Xq28
likely benign
NM_001110792.2(MECP2):c.1188_1207del (p.Pro396_Pro397insTer) deletion Severe neonatal-onset encephalopathy with microcephaly [RCV002525236]|not provided [RCV000523524] ChrX:154030657..154030676 [GRCh38]
ChrX:153296108..153296127 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic
NM_001110792.2(MECP2):c.632C>G (p.Pro211Arg) single nucleotide variant Inborn genetic diseases [RCV002528655]|Severe neonatal-onset encephalopathy with microcephaly [RCV000691182]|not specified [RCV000610375] ChrX:154031232 [GRCh38]
ChrX:153296683 [GRCh37]
ChrX:Xq28
likely benign|uncertain significance
NM_001110792.2(MECP2):c.1486_*24del (p.Arg496_Ter499del) deletion not provided [RCV000597280] ChrX:154030343..154030378 [GRCh38]
ChrX:153295794..153295829 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_001110792.2(MECP2):c.1353G>A (p.Ala451=) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV000938249]|not provided [RCV001704712] ChrX:154030511 [GRCh38]
ChrX:153295962 [GRCh37]
ChrX:Xq28
benign|likely benign
NM_001110792.2(MECP2):c.33AGG[4] (p.Gly16del) microsatellite Inborn genetic diseases [RCV002331090]|Severe neonatal-onset encephalopathy with microcephaly [RCV001522067]|not provided [RCV001704833] ChrX:154097619..154097621 [GRCh38]
ChrX:153363076..153363078 [GRCh37]
ChrX:Xq28
benign|likely benign
NM_001110792.2(MECP2):c.569C>G (p.Ser190Cys) single nucleotide variant MECP2-related condition [RCV003420023]|Severe neonatal-onset encephalopathy with microcephaly [RCV002065127]|not provided [RCV000585605]|not specified [RCV000780398] ChrX:154031295 [GRCh38]
ChrX:153296746 [GRCh37]
ChrX:Xq28
likely benign|uncertain significance
NM_001110792.2(MECP2):c.1368C>T (p.Ala456=) single nucleotide variant not specified [RCV000613731] ChrX:154030496 [GRCh38]
ChrX:153295947 [GRCh37]
ChrX:Xq28
likely benign
NM_001110792.2(MECP2):c.932C>T (p.Thr311Ile) single nucleotide variant not provided [RCV003318305] ChrX:154030932 [GRCh38]
ChrX:153296383 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.-14A>C single nucleotide variant not specified [RCV000611210] ChrX:154097679 [GRCh38]
ChrX:153363136 [GRCh37]
ChrX:Xq28
likely benign
NM_001110792.2(MECP2):c.1184_1195del (p.Leu395_Leu398del) deletion Rett syndrome [RCV003328441]|Severe neonatal-onset encephalopathy with microcephaly [RCV001338659]|not specified [RCV000613870] ChrX:154030669..154030680 [GRCh38]
ChrX:153296120..153296131 [GRCh37]
ChrX:Xq28
likely benign|uncertain significance
NM_001110792.2(MECP2):c.62+20C>A single nucleotide variant not specified [RCV000611367] ChrX:154097584 [GRCh38]
ChrX:153363041 [GRCh37]
ChrX:Xq28
likely benign
NM_001110792.2(MECP2):c.763A>G (p.Thr255Ala) single nucleotide variant not specified [RCV000606712] ChrX:154031101 [GRCh38]
ChrX:153296552 [GRCh37]
ChrX:Xq28
likely benign
NM_001110792.2(MECP2):c.1374C>T (p.Ala458=) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV002064130]|not specified [RCV000611825] ChrX:154030490 [GRCh38]
ChrX:153295941 [GRCh37]
ChrX:Xq28
likely benign
NM_001110792.2(MECP2):c.-35T>G single nucleotide variant not specified [RCV000611895] ChrX:154097700 [GRCh38]
ChrX:153363157 [GRCh37]
ChrX:Xq28
likely benign
GRCh37/hg19 Xq28(chrX:152899437-153624564)x2 copy number gain See cases [RCV000512403] ChrX:152899437..153624564 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.552A>G (p.Pro184=) single nucleotide variant not specified [RCV000605454] ChrX:154031312 [GRCh38]
ChrX:153296763 [GRCh37]
ChrX:Xq28
likely benign
GRCh37/hg19 Xq22.1-28(chrX:98495811-155233731)x1 copy number loss See cases [RCV000512372] ChrX:98495811..155233731 [GRCh37]
ChrX:Xq22.1-28
pathogenic
NM_001110792.2(MECP2):c.1250_1263del (p.Pro417fs) deletion not provided [RCV000512727] ChrX:154030601..154030614 [GRCh38]
ChrX:153296052..153296065 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_001110792.2(MECP2):c.1173del (p.Val392fs) deletion Rett syndrome [RCV003322610]|Severe neonatal-onset encephalopathy with microcephaly [RCV000645108]|X-linked intellectual disability-psychosis-macroorchidism syndrome [RCV001252979] ChrX:154030691 [GRCh38]
ChrX:153296142 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic
NM_001110792.2(MECP2):c.1352_1353del (p.Ala451fs) microsatellite Severe neonatal-onset encephalopathy with microcephaly [RCV000645110] ChrX:154030511..154030512 [GRCh38]
ChrX:153295962..153295963 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.1211A>C (p.Glu404Ala) single nucleotide variant Inborn genetic diseases [RCV002331200]|Severe neonatal-onset encephalopathy with microcephaly [RCV000645111] ChrX:154030653 [GRCh38]
ChrX:153296104 [GRCh37]
ChrX:Xq28
likely benign|uncertain significance
NM_001110792.2(MECP2):c.1151_1357del (p.His384_Ala453delinsPro) deletion Severe neonatal-onset encephalopathy with microcephaly [RCV000645114] ChrX:154030507..154030713 [GRCh38]
ChrX:153295958..153296164 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.579T>C (p.Ala193=) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV000645123] ChrX:154031285 [GRCh38]
ChrX:153296736 [GRCh37]
ChrX:Xq28
likely benign
NM_001110792.2(MECP2):c.487G>T (p.Asp163Tyr) single nucleotide variant Rett syndrome [RCV000991004]|not provided [RCV000512893] ChrX:154031377 [GRCh38]
ChrX:153296828 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_001110792.2(MECP2):c.1161C>T (p.Ser387=) single nucleotide variant Rett syndrome [RCV003448327]|Severe neonatal-onset encephalopathy with microcephaly [RCV001522308]|not provided [RCV000596923] ChrX:154030703 [GRCh38]
ChrX:153296154 [GRCh37]
ChrX:Xq28
benign|likely benign|uncertain significance
NC_000023.10:g.(?_153128098)_(153599633_?)dup duplication Severe neonatal-onset encephalopathy with microcephaly [RCV000645140] ChrX:153128098..153599633 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.908C>G (p.Ser303Cys) single nucleotide variant Inborn genetic diseases [RCV000623456]|Severe neonatal-onset encephalopathy with microcephaly [RCV001855298] ChrX:154030956 [GRCh38]
ChrX:153296407 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:57415659-155233731)x3 copy number gain See cases [RCV000512173] ChrX:57415659..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_001110792.2(MECP2):c.52G>A (p.Glu18Lys) single nucleotide variant Inborn genetic diseases [RCV000624625]|not specified [RCV000781520] ChrX:154097614 [GRCh38]
ChrX:153363071 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.244T>C (p.Ser82Pro) single nucleotide variant not provided [RCV000678236] ChrX:154032376 [GRCh38]
ChrX:153297827 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.319_322del (p.Tyr107fs) deletion not provided [RCV000678238] ChrX:154032298..154032301 [GRCh38]
ChrX:153297749..153297752 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.605G>A (p.Arg202His) single nucleotide variant Rett syndrome [RCV000662350] ChrX:154031259 [GRCh38]
ChrX:153296710 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_001110792.2(MECP2):c.876del (p.Ala293fs) deletion Rett syndrome [RCV000659839]|Severe neonatal-onset encephalopathy with microcephaly [RCV000706646] ChrX:154030988 [GRCh38]
ChrX:153296439 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic
NM_001110792.2(MECP2):c.1173dup (p.Val392fs) duplication Rett syndrome [RCV000660654]|Severe neonatal-onset encephalopathy with microcephaly [RCV000702922]|X-linked intellectual disability-psychosis-macroorchidism syndrome [RCV002249391]|not provided [RCV001009240] ChrX:154030690..154030691 [GRCh38]
ChrX:153296141..153296142 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.433C>A (p.Arg145Ser) single nucleotide variant Inborn genetic diseases [RCV001266416]|not provided [RCV000659187] ChrX:154031431 [GRCh38]
ChrX:153296882 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_001110792.2(MECP2):c.275C>G (p.Ser92Cys) single nucleotide variant not provided [RCV000678234] ChrX:154032345 [GRCh38]
ChrX:153297796 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.1200_1235delinsT (p.Pro401fs) indel Rett syndrome [RCV000677730] ChrX:154030629..154030664 [GRCh38]
ChrX:153296080..153296115 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_001110792.2(MECP2):c.*9G>T single nucleotide variant not provided [RCV000678232] ChrX:154030358 [GRCh38]
ChrX:153295809 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.937C>T (p.Leu313Phe) single nucleotide variant not provided [RCV000678240] ChrX:154030927 [GRCh38]
ChrX:153296378 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq25-28(chrX:125733292-155233846)x1 copy number loss not provided [RCV000684386] ChrX:125733292..155233846 [GRCh37]
ChrX:Xq25-28
pathogenic
GRCh37/hg19 Xq27.1-28(chrX:139504488-155233731)x1 copy number loss not provided [RCV000684401] ChrX:139504488..155233731 [GRCh37]
ChrX:Xq27.1-28
pathogenic
GRCh37/hg19 Xq27.2-28(chrX:140388077-155233731)x3 copy number gain not provided [RCV000684402] ChrX:140388077..155233731 [GRCh37]
ChrX:Xq27.2-28
pathogenic
GRCh37/hg19 Xq27.1-28(chrX:138331745-155233731)x1 copy number loss not provided [RCV000684397] ChrX:138331745..155233731 [GRCh37]
ChrX:Xq27.1-28
pathogenic
GRCh37/hg19 Xq22.3-28(chrX:107823442-155233731)x1 copy number loss not provided [RCV000684373] ChrX:107823442..155233731 [GRCh37]
ChrX:Xq22.3-28
pathogenic
GRCh37/hg19 Xq21.31-28(chrX:91140025-155233731)x1 copy number loss not provided [RCV000684357] ChrX:91140025..155233731 [GRCh37]
ChrX:Xq21.31-28
pathogenic
GRCh37/hg19 Xq22.1-28(chrX:99324651-155233731)x1 copy number loss not provided [RCV000684363] ChrX:99324651..155233731 [GRCh37]
ChrX:Xq22.1-28
pathogenic
GRCh37/hg19 Xq28(chrX:152628304-153594168)x2 copy number gain not provided [RCV000684738] ChrX:152628304..153594168 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:152941302-153438781)x3 copy number gain not provided [RCV000684739] ChrX:152941302..153438781 [GRCh37]
ChrX:Xq28
likely pathogenic
GRCh37/hg19 Xq28(chrX:153322172-153624604)x2 copy number gain not provided [RCV000684742] ChrX:153322172..153624604 [GRCh37]
ChrX:Xq28
likely pathogenic
GRCh37/hg19 Xq28(chrX:153123907-153431401)x2 copy number gain not provided [RCV000684741] ChrX:153123907..153431401 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.1033_1037del (p.Gly345fs) deletion Severe neonatal-onset encephalopathy with microcephaly [RCV000699118] ChrX:154030827..154030831 [GRCh38]
ChrX:153296278..153296282 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.875CCG[1] (p.Ala293del) microsatellite Severe neonatal-onset encephalopathy with microcephaly [RCV000699119] ChrX:154030984..154030986 [GRCh38]
ChrX:153296435..153296437 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.737_1311del (p.Ala246fs) deletion Rett syndrome [RCV000708591] ChrX:154030553..154031127 [GRCh38]
ChrX:153296004..153296578 [GRCh37]
ChrX:Xq28
pathogenic
NM_004992.3(MECP2):c.27-8916_1212del deletion Severe neonatal-onset encephalopathy with microcephaly [RCV000690615] ChrX:154030616..154041473 [GRCh38]
ChrX:153296067..153306924 [GRCh37]
ChrX:Xq28
likely pathogenic
NC_000023.10:g.(?_152954010)_(153599633_?)dup duplication Creatine transporter deficiency [RCV003117500]|Severe neonatal-onset encephalopathy with microcephaly [RCV000707841] ChrX:152954010..153599633 [GRCh37]
ChrX:Xq28
pathogenic|uncertain significance
NC_000023.10:g.(?_153363041)_(153363142_?)del deletion Severe neonatal-onset encephalopathy with microcephaly [RCV000708161] ChrX:153363041..153363142 [GRCh37]
ChrX:Xq28
pathogenic
NC_000023.10:g.(?_153128823)_(153416424_?)dup duplication Severe neonatal-onset encephalopathy with microcephaly [RCV000708432] ChrX:153128823..153416424 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.780C>G (p.Ile260Met) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV000686804] ChrX:154031084 [GRCh38]
ChrX:153296535 [GRCh37]
ChrX:Xq28
likely benign|uncertain significance
NM_001110792.2(MECP2):c.1315G>A (p.Asp439Asn) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV000695420] ChrX:154030549 [GRCh38]
ChrX:153296000 [GRCh37]
ChrX:Xq28
uncertain significance
NC_000023.10:g.(?_153128118)_(153416424_?)dup duplication Severe neonatal-onset encephalopathy with microcephaly [RCV000707765] ChrX:153128118..153416424 [GRCh37]
ChrX:Xq28
pathogenic
NC_000023.10:g.(?_153170600)_(153409869_?)dup duplication Severe neonatal-onset encephalopathy with microcephaly [RCV000708104]|not provided [RCV003117501] ChrX:153170600..153409869 [GRCh37]
ChrX:Xq28
pathogenic|uncertain significance|no classifications from unflagged records
NM_001110792.2(MECP2):c.670G>T (p.Val224Phe) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV001416199] ChrX:154031194 [GRCh38]
ChrX:153296645 [GRCh37]
ChrX:Xq28
likely benign|uncertain significance
NM_001110792.2(MECP2):c.1117C>A (p.Pro373Thr) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV000691585]|not provided [RCV000999554] ChrX:154030747 [GRCh38]
ChrX:153296198 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.1190_1226delinsAACAGAATTCACCACCGTAACCATTTGGAGCACAGCAGGCTCGAATCCAGCTCCATCCTGGGACCTAATGGCCGTCTATGCAGCAGACTCGGATCCACCTGCGTCCTGGGATG (p.Pro397_Glu409delinsGlnGlnAsnSerProProTer) indel Severe neonatal-onset encephalopathy with microcephaly [RCV000694390] ChrX:154030638..154030674 [GRCh38]
ChrX:153296089..153296125 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.1061C>G (p.Pro354Arg) single nucleotide variant Rett syndrome [RCV002289970]|Severe neonatal-onset encephalopathy with microcephaly [RCV000691863] ChrX:154030803 [GRCh38]
ChrX:153296254 [GRCh37]
ChrX:Xq28
uncertain significance
NC_000023.10:g.(?_153295726)_(153599633_?)dup duplication Severe neonatal-onset encephalopathy with microcephaly [RCV000708412] ChrX:153295726..153599633 [GRCh37]
ChrX:Xq28
pathogenic
NC_000023.10:g.(?_153184286)_(153409869_?)dup duplication Severe neonatal-onset encephalopathy with microcephaly [RCV000708531] ChrX:153184286..153409869 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.598C>T (p.Arg200Trp) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV000686617]|not provided [RCV001584555] ChrX:154031266 [GRCh38]
ChrX:153296717 [GRCh37]
ChrX:Xq28
uncertain significance
NC_000023.10:g.(?_153295726)_(153298028_?)del deletion Severe neonatal-onset encephalopathy with microcephaly [RCV000708536] ChrX:153295726..153298028 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.6CGC[5] (p.Ala8del) microsatellite Inborn genetic diseases [RCV002313582]|Severe neonatal-onset encephalopathy with microcephaly [RCV002067029]|Severe neonatal-onset encephalopathy with microcephaly [RCV002493275]|not provided [RCV001712737] ChrX:154097643..154097645 [GRCh38]
ChrX:153363100..153363102 [GRCh37]
ChrX:Xq28
benign|likely benign
NM_001110792.2(MECP2):c.63-2890_517del deletion Epileptic encephalopathy [RCV000417025] ChrX:154031347..154035447 [GRCh38]
ChrX:153296798..153300898 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.1194_*261del (p.Pro399fs) deletion Rett syndrome [RCV000445568] ChrX:154030106..154030670 [GRCh38]
ChrX:153295557..153296121 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.148_152del (p.Glu50fs) deletion Facial hypertrichosis [RCV001004017] ChrX:154032468..154032472 [GRCh38]
ChrX:153297919..153297923 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_001110792.2(MECP2):c.1186C>T (p.Pro396Ser) single nucleotide variant Inborn genetic diseases [RCV002316751] ChrX:154030678 [GRCh38]
ChrX:153296129 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.81C>T (p.Asp27=) single nucleotide variant Inborn genetic diseases [RCV002317415]|Severe neonatal-onset encephalopathy with microcephaly [RCV001510392] ChrX:154032539 [GRCh38]
ChrX:153297990 [GRCh37]
ChrX:Xq28
benign|likely benign
NM_001110792.2(MECP2):c.866C>T (p.Ala289Val) single nucleotide variant Inborn genetic diseases [RCV002318144]|not provided [RCV003437419] ChrX:154030998 [GRCh38]
ChrX:153296449 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.1193_1198del (p.Leu398_Pro399del) deletion History of neurodevelopmental disorder [RCV000720619] ChrX:154030666..154030671 [GRCh38]
ChrX:153296117..153296122 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.301C>T (p.Arg101Cys) single nucleotide variant Inborn genetic diseases [RCV002318251]|not provided [RCV001561656] ChrX:154032319 [GRCh38]
ChrX:153297770 [GRCh37]
ChrX:Xq28
likely benign|uncertain significance
NM_001110792.2(MECP2):c.1345C>A (p.Gln449Lys) single nucleotide variant Inborn genetic diseases [RCV002318289]|Severe neonatal-onset encephalopathy with microcephaly [RCV001862087]|not specified [RCV003117522] ChrX:154030519 [GRCh38]
ChrX:153295970 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.47_57dup (p.Arg20fs) duplication Inborn genetic diseases [RCV002318290]|Rett syndrome [RCV003380705] ChrX:154097608..154097609 [GRCh38]
ChrX:153363065..153363066 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic
GRCh37/hg19 Xq21.1-28(chrX:77670699-155233731)x1 copy number loss See cases [RCV002285075] ChrX:77670699..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
NM_001110792.2(MECP2):c.47_49dup (p.Gly16dup) duplication Severe neonatal-onset encephalopathy with microcephaly [RCV001873740]|not provided [RCV001529207] ChrX:154097616..154097617 [GRCh38]
ChrX:153363073..153363074 [GRCh37]
ChrX:Xq28
likely benign|uncertain significance
NM_001110792.2(MECP2):c.1271T>C (p.Val424Ala) single nucleotide variant not provided [RCV001725842] ChrX:154030593 [GRCh38]
ChrX:153296044 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq27.1-28(chrX:138750575-155246749)x1 copy number loss not provided [RCV000753810] ChrX:138750575..155246749 [GRCh37]
ChrX:Xq27.1-28
pathogenic
GRCh37/hg19 Xq28(chrX:152806628-153626649)x2 copy number gain not provided [RCV000753922] ChrX:152806628..153626649 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:153184816-153626794)x3 copy number gain not provided [RCV000753930] ChrX:153184816..153626794 [GRCh37]
ChrX:Xq28
likely pathogenic
GRCh37/hg19 Xq28(chrX:153292180-153296464)x2 copy number gain not provided [RCV000753931] ChrX:153292180..153296464 [GRCh37]
ChrX:Xq28
benign
GRCh37/hg19 Xq28(chrX:153295624-153296445)x2 copy number gain not provided [RCV000753932] ChrX:153295624..153296445 [GRCh37]
ChrX:Xq28
benign
GRCh37/hg19 Xq28(chrX:153296295-153296464)x2 copy number gain not provided [RCV000753933] ChrX:153296295..153296464 [GRCh37]
ChrX:Xq28
benign
GRCh37/hg19 Xq27.1-28(chrX:139504958-155254881)x1 copy number loss not provided [RCV000753815] ChrX:139504958..155254881 [GRCh37]
ChrX:Xq27.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.2-28(chrX:73472626-155254881)x1 copy number loss not provided [RCV000753606] ChrX:73472626..155254881 [GRCh37]
ChrX:Xq13.2-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Autism [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:61694576-155254881)x1 copy number loss not provided [RCV000753556] ChrX:61694576..155254881 [GRCh37]
ChrX:Xq11.1-28
pathogenic
NM_001110792.2(MECP2):c.1244C>G (p.Pro415Arg) single nucleotide variant not provided [RCV001584865]|not specified [RCV002246442] ChrX:154030620 [GRCh38]
ChrX:153296071 [GRCh37]
ChrX:Xq28
likely benign|uncertain significance
GRCh37/hg19 Xq28(chrX:153263517-155260560)x2 copy number gain Intellectual disability [RCV001638056] ChrX:153263517..155260560 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.956_976del (p.Lys319_Ser325del) deletion Rett syndrome [RCV003314333] ChrX:154030888..154030908 [GRCh38]
ChrX:153296339..153296359 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.1248G>A (p.Glu416=) single nucleotide variant not provided [RCV000762684] ChrX:154030616 [GRCh38]
ChrX:153296067 [GRCh37]
ChrX:Xq28
likely benign
NC_000023.10:g.(?_153295726)_(153298028_?)dup duplication Severe neonatal-onset encephalopathy with microcephaly [RCV001032264] ChrX:153295726..153298028 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.331A>C (p.Thr111Pro) single nucleotide variant Rett syndrome [RCV001507069]|Severe neonatal-onset encephalopathy with microcephaly [RCV001065758] ChrX:154032289 [GRCh38]
ChrX:153297740 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.1153_1207del (p.Ser385fs) deletion Rett syndrome [RCV000990997] ChrX:154030657..154030711 [GRCh38]
ChrX:153296108..153296162 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.44_57dup (p.Arg20fs) duplication Rett syndrome [RCV000991008] ChrX:154097608..154097609 [GRCh38]
ChrX:153363065..153363066 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.-23C>T single nucleotide variant not provided [RCV001578090] ChrX:154097688 [GRCh38]
ChrX:153363145 [GRCh37]
ChrX:Xq28
likely benign
NM_001110792.2(MECP2):c.62+2T>A single nucleotide variant not provided [RCV001574539] ChrX:154097602 [GRCh38]
ChrX:153363059 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.3G>A (p.Met1Ile) single nucleotide variant X-linked intellectual disability-psychosis-macroorchidism syndrome [RCV002246437]|not provided [RCV001574971] ChrX:154097663 [GRCh38]
ChrX:153363120 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.1352C>T (p.Ala451Val) single nucleotide variant Rett syndrome [RCV003382627]|not provided [RCV001575312] ChrX:154030512 [GRCh38]
ChrX:153295963 [GRCh37]
ChrX:Xq28
benign|likely benign
NM_001110792.2(MECP2):c.1365C>T (p.Ala455=) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV000868627] ChrX:154030499 [GRCh38]
ChrX:153295950 [GRCh37]
ChrX:Xq28
benign
NM_001110792.2(MECP2):c.1468C>A (p.Arg490=) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV001399308] ChrX:154030396 [GRCh38]
ChrX:153295847 [GRCh37]
ChrX:Xq28
likely benign
NM_001110792.2(MECP2):c.1221C>T (p.Ser407=) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV000970526] ChrX:154030643 [GRCh38]
ChrX:153296094 [GRCh37]
ChrX:Xq28
benign
NM_001110792.2(MECP2):c.62+5429C>T single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV000944132] ChrX:154092175 [GRCh38]
ChrX:153357633 [GRCh37]
ChrX:Xq28
likely benign
NM_001110792.2(MECP2):c.873T>C (p.Ala291=) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV001500182] ChrX:154030991 [GRCh38]
ChrX:153296442 [GRCh37]
ChrX:Xq28
likely benign
NM_001110792.2(MECP2):c.1327A>C (p.Lys443Gln) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV001517831] ChrX:154030537 [GRCh38]
ChrX:153295988 [GRCh37]
ChrX:Xq28
benign
NM_001110792.2(MECP2):c.1185C>T (p.Leu395=) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV001455008] ChrX:154030679 [GRCh38]
ChrX:153296130 [GRCh37]
ChrX:Xq28
likely benign
NM_001110792.2(MECP2):c.942C>T (p.Pro314=) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV000866117] ChrX:154030922 [GRCh38]
ChrX:153296373 [GRCh37]
ChrX:Xq28
likely benign
NM_001110792.2(MECP2):c.633C>G (p.Pro211=) single nucleotide variant Rett syndrome [RCV003448354]|Severe neonatal-onset encephalopathy with microcephaly [RCV002064532]|not provided [RCV000866215] ChrX:154031231 [GRCh38]
ChrX:153296682 [GRCh37]
ChrX:Xq28
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001110792.2(MECP2):c.641C>G (p.Ala214Gly) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV001055625]|not specified [RCV003396688] ChrX:154031223 [GRCh38]
ChrX:153296674 [GRCh37]
ChrX:Xq28
likely benign|uncertain significance
GRCh37/hg19 Xq21.1-28(chrX:78444738-155233731)x1 copy number loss not provided [RCV001007318] ChrX:78444738..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
NM_001110792.2(MECP2):c.1244C>A (p.Pro415His) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV001056054] ChrX:154030620 [GRCh38]
ChrX:153296071 [GRCh37]
ChrX:Xq28
uncertain significance
NC_000023.10:g.(?_152954010)_(153363142_?)dup duplication Severe neonatal-onset encephalopathy with microcephaly [RCV001033929] ChrX:152954010..153363142 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.1427C>T (p.Ser476Phe) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV001034056] ChrX:154030437 [GRCh38]
ChrX:153295888 [GRCh37]
ChrX:Xq28
pathogenic|likely benign
GRCh37/hg19 Xq28(chrX:153281481-153296901)x1 copy number loss not provided [RCV000996093] ChrX:153281481..153296901 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_001110792.2(MECP2):c.1151A>C (p.His384Pro) single nucleotide variant not specified [RCV000780400] ChrX:154030713 [GRCh38]
ChrX:153296164 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.1153T>C (p.Ser385Pro) single nucleotide variant not specified [RCV000780401] ChrX:154030711 [GRCh38]
ChrX:153296162 [GRCh37]
ChrX:Xq28
likely benign|uncertain significance
NC_000023.10:g.(?_153128108)_(153609567_?)dup duplication X-linked Emery-Dreifuss muscular dystrophy [RCV000795425] ChrX:153128108..153609567 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.1154C>A (p.Ser385Ter) single nucleotide variant not specified [RCV000781521] ChrX:154030710 [GRCh38]
ChrX:153296161 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.650_651del (p.Glu217fs) microsatellite Rett syndrome [RCV000787333] ChrX:154031213..154031214 [GRCh38]
ChrX:153296664..153296665 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.948G>C (p.Lys316Asn) single nucleotide variant Inborn genetic diseases [RCV002370183]|Severe neonatal-onset encephalopathy with microcephaly [RCV000811977] ChrX:154030916 [GRCh38]
ChrX:153296367 [GRCh37]
ChrX:Xq28
pathogenic|uncertain significance
NM_001110792.2(MECP2):c.609C>G (p.Pro203=) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV000865893] ChrX:154031255 [GRCh38]
ChrX:153296706 [GRCh37]
ChrX:Xq28
likely benign
NM_001110792.2(MECP2):c.1218G>A (p.Glu406=) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV000868713] ChrX:154030646 [GRCh38]
ChrX:153296097 [GRCh37]
ChrX:Xq28
likely benign
NM_001110792.2(MECP2):c.1173C>A (p.Pro391=) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV001421619] ChrX:154030691 [GRCh38]
ChrX:153296142 [GRCh37]
ChrX:Xq28
likely benign
NM_001110792.2(MECP2):c.1122C>G (p.Pro374=) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV001480417] ChrX:154030742 [GRCh38]
ChrX:153296193 [GRCh37]
ChrX:Xq28
likely benign
NM_001110792.2(MECP2):c.1326C>T (p.Pro442=) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV000942962] ChrX:154030538 [GRCh38]
ChrX:153295989 [GRCh37]
ChrX:Xq28
likely benign
NM_001110792.2(MECP2):c.1293C>T (p.Pro431=) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV002501274]|Severe neonatal-onset encephalopathy with microcephaly [RCV002536778] ChrX:154030571 [GRCh38]
ChrX:153296022 [GRCh37]
ChrX:Xq28
benign|likely benign
NM_001110792.2(MECP2):c.917_1208del (p.Arg306fs) deletion Rett syndrome [RCV000787335] ChrX:154030656..154030947 [GRCh38]
ChrX:153296107..153296398 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.108A>G (p.Lys36=) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV001510469]|not provided [RCV001619839]|not specified [RCV000780399] ChrX:154032512 [GRCh38]
ChrX:153297963 [GRCh37]
ChrX:Xq28
benign
NM_001110792.2(MECP2):c.764_767del (p.Thr255fs) deletion Rett syndrome [RCV000781523] ChrX:154031097..154031100 [GRCh38]
ChrX:153296548..153296551 [GRCh37]
ChrX:Xq28
likely pathogenic
GRCh37/hg19 Xq28(chrX:153174571-153609996) copy number gain Syndromic X-linked intellectual disability Lubs type [RCV000767661] ChrX:153174571..153609996 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq26.3-28(chrX:134975270-155233945) copy number gain not provided [RCV000767679] ChrX:134975270..155233945 [GRCh37]
ChrX:Xq26.3-28
pathogenic
GRCh37/hg19 Xq28(chrX:152372767-155233731) copy number gain Chromosome Xq28 duplication syndrome [RCV002280621]|Syndromic X-linked intellectual disability Lubs type [RCV002280620] ChrX:152372767..155233731 [GRCh37]
ChrX:Xq28
pathogenic
NC_000023.10:g.(?_152954020)_(154096327_?)del deletion Adrenoleukodystrophy [RCV000815921] ChrX:152954020..154096327 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.1064_1246del (p.Gly355_Pro415del) deletion Severe neonatal-onset encephalopathy with microcephaly [RCV000794038] ChrX:154030618..154030800 [GRCh38]
ChrX:153296069..153296251 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.112C>G (p.Leu38Val) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV000795931] ChrX:154032508 [GRCh38]
ChrX:153297959 [GRCh37]
ChrX:Xq28
uncertain significance
NC_000023.10:g.(?_153137587)_(153363142_?)dup duplication Severe neonatal-onset encephalopathy with microcephaly [RCV000794134] ChrX:153137587..153363142 [GRCh37]
ChrX:Xq28
pathogenic
NC_000023.10:g.(?_153128098)_(153363142_?)dup duplication Severe neonatal-onset encephalopathy with microcephaly [RCV000801357] ChrX:153128098..153363142 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.825C>T (p.Ala275=) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV001504595] ChrX:154031039 [GRCh38]
ChrX:153296490 [GRCh37]
ChrX:Xq28
likely benign
NC_000023.10:g.(?_153297634)_(153298028_?)del deletion Severe neonatal-onset encephalopathy with microcephaly [RCV000805925] ChrX:153297634..153298028 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.541G>T (p.Glu181Ter) single nucleotide variant Rett syndrome [RCV000991001]|Severe neonatal-onset encephalopathy with microcephaly [RCV001869365] ChrX:154031323 [GRCh38]
ChrX:153296774 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq22.3-28(chrX:104098124-155233731)x1 copy number loss not provided [RCV000846958] ChrX:104098124..155233731 [GRCh37]
ChrX:Xq22.3-28
pathogenic
NM_001110792.2(MECP2):c.982_1248del (p.Val328_Glu416del) deletion Severe neonatal-onset encephalopathy with microcephaly [RCV000792264] ChrX:154030616..154030882 [GRCh38]
ChrX:153296067..153296333 [GRCh37]
ChrX:Xq28
pathogenic|uncertain significance
NM_001110792.2(MECP2):c.10G>A (p.Ala4Thr) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV000801086] ChrX:154097656 [GRCh38]
ChrX:153363113 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.1179_1196del (p.Leu394_Pro399del) deletion Severe neonatal-onset encephalopathy with microcephaly [RCV000797416] ChrX:154030668..154030685 [GRCh38]
ChrX:153296119..153296136 [GRCh37]
ChrX:Xq28
likely benign|uncertain significance
NM_001110792.2(MECP2):c.659A>G (p.Gln220Arg) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV000811076] ChrX:154031205 [GRCh38]
ChrX:153296656 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.1031G>A (p.Ser344Asn) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV000812170] ChrX:154030833 [GRCh38]
ChrX:153296284 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.62+5503del deletion Rett syndrome [RCV000991006] ChrX:154092101 [GRCh38]
ChrX:153357559 [GRCh37]
ChrX:Xq28
benign
NM_001110792.2(MECP2):c.280A>T (p.Lys94Ter) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV000816083] ChrX:154032340 [GRCh38]
ChrX:153297791 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.1397G>C (p.Gly466Ala) single nucleotide variant not provided [RCV001090496] ChrX:154030467 [GRCh38]
ChrX:153295918 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.1198_1208del (p.Pro399_Pro400insTer) deletion Neurodevelopmental delay [RCV002274137]|Severe neonatal-onset encephalopathy with microcephaly [RCV001862678]|not provided [RCV001090498] ChrX:154030656..154030666 [GRCh38]
ChrX:153296107..153296117 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic
NM_001110792.2(MECP2):c.63-5778_1174del deletion Severe neonatal-onset encephalopathy with microcephaly [RCV000805421] ChrX:154030690..154038335 [GRCh38]
ChrX:153296141..153303786 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.414-6C>A single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV001066682] ChrX:154031456 [GRCh38]
ChrX:153296907 [GRCh37]
ChrX:Xq28
likely benign|uncertain significance
NM_001110792.2(MECP2):c.230C>T (p.Ser77Leu) single nucleotide variant Rett syndrome [RCV001007927] ChrX:154032390 [GRCh38]
ChrX:153297841 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.1228G>T (p.Asp410Tyr) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV001044971] ChrX:154030636 [GRCh38]
ChrX:153296087 [GRCh37]
ChrX:Xq28
likely benign|uncertain significance
NM_001110792.2(MECP2):c.785_786insT (p.Gly264fs) insertion Severe neonatal-onset encephalopathy with microcephaly [RCV000823208] ChrX:154031078..154031079 [GRCh38]
ChrX:153296529..153296530 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.95del (p.Gly32fs) deletion Rett syndrome [RCV000787334] ChrX:154032525 [GRCh38]
ChrX:153297976 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.1301G>A (p.Gly434Asp) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV001045877] ChrX:154030563 [GRCh38]
ChrX:153296014 [GRCh37]
ChrX:Xq28
likely benign|uncertain significance
NC_000023.10:g.(?_153295726)_(153596478_?)dup duplication Severe neonatal-onset encephalopathy with microcephaly [RCV000794826] ChrX:153295726..153596478 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.107A>G (p.Lys36Arg) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV000807863] ChrX:154032513 [GRCh38]
ChrX:153297964 [GRCh37]
ChrX:Xq28
benign|uncertain significance
NM_001110792.2(MECP2):c.23del (p.Ala8fs) deletion Severe neonatal-onset encephalopathy with microcephaly [RCV000822577] ChrX:154097643 [GRCh38]
ChrX:153363100 [GRCh37]
ChrX:Xq28
pathogenic
NC_000023.10:g.(?_152990712)_(153650075_?)del deletion X-linked Emery-Dreifuss muscular dystrophy [RCV000823256] ChrX:152990712..153650075 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.62+5140A>G single nucleotide variant not provided [RCV000837266] ChrX:154092464 [GRCh38]
ChrX:153357922 [GRCh37]
ChrX:Xq28
likely benign
NM_001110792.2(MECP2):c.62+304dup duplication not provided [RCV000844541] ChrX:154097299..154097300 [GRCh38]
ChrX:Xq28
benign
NM_004992.3:c.377+266T>C single nucleotide variant not provided [RCV000844544] ChrX:153297392 [GRCh37]
ChrX:Xq28
benign
NM_001110792.2(MECP2):c.1117C>T (p.Pro373Ser) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV000812240]|not provided [RCV001593003] ChrX:154030747 [GRCh38]
ChrX:153296198 [GRCh37]
ChrX:Xq28
likely benign|uncertain significance
GRCh37/hg19 Xq28(chrX:153303159-153383470)x3 copy number gain not provided [RCV000847378] ChrX:153303159..153383470 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq28(chrX:153105400-153438105)x2 copy number gain not provided [RCV000846316] ChrX:153105400..153438105 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.1284G>C (p.Glu428Asp) single nucleotide variant not provided [RCV000992299] ChrX:154030580 [GRCh38]
ChrX:153296031 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.63-73_1087del deletion Rett syndrome [RCV000991244] ChrX:154030777..154032630 [GRCh38]
ChrX:153296228..153298081 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.189C>T (p.His63=) single nucleotide variant not provided [RCV000992300] ChrX:154032431 [GRCh38]
ChrX:153297882 [GRCh37]
ChrX:Xq28
likely benign
NM_001110792.2(MECP2):c.785dup (p.Gly264fs) duplication Rett syndrome [RCV000990998] ChrX:154031078..154031079 [GRCh38]
ChrX:153296529..153296530 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.310_311dup (p.Pro105fs) duplication Rett syndrome [RCV000991005] ChrX:154032308..154032309 [GRCh38]
ChrX:153297759..153297760 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:153154008-153624566)x2 copy number gain not provided [RCV000846110] ChrX:153154008..153624566 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.1354dup (p.Val452fs) duplication not provided [RCV001008586] ChrX:154030509..154030510 [GRCh38]
ChrX:153295960..153295961 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.331dup (p.Thr111fs) duplication Rett syndrome [RCV001249299]|not provided [RCV001008640] ChrX:154032288..154032289 [GRCh38]
ChrX:153297739..153297740 [GRCh37]
ChrX:Xq28
pathogenic|not provided
GRCh37/hg19 Xq25-28(chrX:122924044-155233731)x1 copy number loss not provided [RCV000849097] ChrX:122924044..155233731 [GRCh37]
ChrX:Xq25-28
pathogenic
GRCh37/hg19 Xq21.32-28(chrX:92814516-155233731)x1 copy number loss not provided [RCV000845672] ChrX:92814516..155233731 [GRCh37]
ChrX:Xq21.32-28
pathogenic
GRCh37/hg19 Xq28(chrX:153255132-153636707)x3 copy number gain not provided [RCV000847428] ChrX:153255132..153636707 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:153347338-153408903)x2 copy number gain not provided [RCV000846579] ChrX:153347338..153408903 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.1193_1222delinsA (p.Leu398fs) indel Rett syndrome [RCV001250738] ChrX:154030642..154030671 [GRCh38]
ChrX:153296093..153296122 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_001110792.2(MECP2):c.62+5469A>T single nucleotide variant Rett syndrome [RCV000991007] ChrX:154092135 [GRCh38]
ChrX:153357593 [GRCh37]
ChrX:Xq28
likely benign
NM_001110792.2(MECP2):c.63-7080_1196del deletion Severe neonatal-onset encephalopathy with microcephaly [RCV001233088] ChrX:154030668..154039637 [GRCh38]
ChrX:153296119..153305088 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.907_1268delinsAC (p.Ser303_Ser423delinsThr) indel Severe neonatal-onset encephalopathy with microcephaly [RCV001222554] ChrX:154030596..154030957 [GRCh38]
ChrX:153296047..153296408 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.1241C>A (p.Pro414His) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV001224611] ChrX:154030623 [GRCh38]
ChrX:153296074 [GRCh37]
ChrX:Xq28
likely benign|uncertain significance
NM_001110792.2(MECP2):c.632C>T (p.Pro211Leu) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV001209680] ChrX:154031232 [GRCh38]
ChrX:153296683 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.934_942del (p.Val312_Pro314del) deletion Severe neonatal-onset encephalopathy with microcephaly [RCV001231968] ChrX:154030922..154030930 [GRCh38]
ChrX:153296373..153296381 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.745G>A (p.Gly249Ser) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV001209986] ChrX:154031119 [GRCh38]
ChrX:153296570 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.1261AGC[2] (p.Ser423del) microsatellite Severe neonatal-onset encephalopathy with microcephaly [RCV001203890]|not provided [RCV001586043] ChrX:154030595..154030597 [GRCh38]
ChrX:153296046..153296048 [GRCh37]
ChrX:Xq28
benign|uncertain significance
NM_001110792.2(MECP2):c.1195_1279del (p.Pro399fs) deletion Severe neonatal-onset encephalopathy with microcephaly [RCV001232302] ChrX:154030585..154030669 [GRCh38]
ChrX:153296036..153296120 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.1316_1318del (p.Asp439del) deletion Severe neonatal-onset encephalopathy with microcephaly [RCV001232303] ChrX:154030546..154030548 [GRCh38]
ChrX:153295997..153295999 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.1129_1134del (p.Glu377_His378del) deletion Severe neonatal-onset encephalopathy with microcephaly [RCV001203977] ChrX:154030730..154030735 [GRCh38]
ChrX:153296181..153296186 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.851C>G (p.Pro284Arg) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV001224601] ChrX:154031013 [GRCh38]
ChrX:153296464 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.1006C>G (p.Leu336Val) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV001228840]|not provided [RCV001726456] ChrX:154030858 [GRCh38]
ChrX:153296309 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.1244del (p.Pro415fs) deletion not provided [RCV001200553] ChrX:154030620 [GRCh38]
ChrX:153296071 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic
NM_001110792.2(MECP2):c.1198_1206delinsACCAGCCCCC (p.Pro400fs) indel Autism, susceptibility to, X-linked 3 [RCV001197946] ChrX:154030658..154030666 [GRCh38]
ChrX:153296109..153296117 [GRCh37]
ChrX:Xq28
likely pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:54941868-155233731)x1 copy number loss not provided [RCV000848218] ChrX:54941868..155233731 [GRCh37]
ChrX:Xp11.21-q28
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1 copy number loss not provided [RCV000846274] ChrX:58455352..155233731 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
GRCh37/hg19 Xq24-28(chrX:118150047-155233731)x1 copy number loss not provided [RCV000847838] ChrX:118150047..155233731 [GRCh37]
ChrX:Xq24-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001110792.2(MECP2):c.679A>C (p.Lys227Gln) single nucleotide variant not provided [RCV000996058] ChrX:154031185 [GRCh38]
ChrX:153296636 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.664A>G (p.Lys222Glu) single nucleotide variant not provided [RCV000996059] ChrX:154031200 [GRCh38]
ChrX:153296651 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.171C>T (p.Pro57=) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV001512326]|not provided [RCV000996060] ChrX:154032449 [GRCh38]
ChrX:153297900 [GRCh37]
ChrX:Xq28
benign|likely benign
NM_001110792.2(MECP2):c.1168_1169insT (p.Ala390fs) insertion not provided [RCV001200555] ChrX:154030695..154030696 [GRCh38]
ChrX:153296146..153296147 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.1255G>A (p.Asp419Asn) single nucleotide variant Inborn genetic diseases [RCV002365824]|Rett syndrome [RCV003448371]|Severe neonatal-onset encephalopathy with microcephaly [RCV001873590]|not provided [RCV001172216] ChrX:154030609 [GRCh38]
ChrX:153296060 [GRCh37]
ChrX:Xq28
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001110792.2(MECP2):c.913A>G (p.Ile305Val) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV001212372] ChrX:154030951 [GRCh38]
ChrX:153296402 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.290G>A (p.Arg97His) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV001047333] ChrX:154032330 [GRCh38]
ChrX:153297781 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.1134CCA[4] (p.His384dup) microsatellite Severe neonatal-onset encephalopathy with microcephaly [RCV001368859]|not provided [RCV001090500] ChrX:154030721..154030722 [GRCh38]
ChrX:153296172..153296173 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.556A>C (p.Lys186Gln) single nucleotide variant Autism spectrum disorder [RCV003127311] ChrX:154031308 [GRCh38]
ChrX:153296759 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.881A>G (p.Glu294Gly) single nucleotide variant Autism spectrum disorder [RCV003127312] ChrX:154030983 [GRCh38]
ChrX:153296434 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_001110792.2(MECP2):c.60A>C (p.Arg20Ser) single nucleotide variant Developmental disorder [RCV003128034] ChrX:154097606 [GRCh38]
ChrX:153363063 [GRCh37]
ChrX:Xq28
uncertain significance
NC_000023.10:g.(?_152014869)_(154563736_?)del deletion Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003122393]|Dyskeratosis congenita [RCV003105406]|not provided [RCV003105407] ChrX:152014869..154563736 [GRCh37]
ChrX:Xq28
pathogenic|uncertain significance|no classifications from unflagged records
GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074) copy number gain Klinefelter syndrome [RCV003236730] ChrX:200855..155240074 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001110792.2(MECP2):c.1123AAG[1] (p.Lys376del) microsatellite not provided [RCV003229896] ChrX:154030736..154030738 [GRCh38]
ChrX:153296187..153296189 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.1174_1178del (p.Val392fs) deletion Syndromic X-linked intellectual disability Lubs type [RCV003333241]|not provided [RCV003127046] ChrX:154030686..154030690 [GRCh38]
ChrX:153296137..153296141 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic
NM_001110792.2(MECP2):c.728G>C (p.Gly243Ala) single nucleotide variant not provided [RCV003234481] ChrX:154031136 [GRCh38]
ChrX:153296587 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.18C>T (p.Ala6=) single nucleotide variant not provided [RCV001571503] ChrX:154097648 [GRCh38]
ChrX:153363105 [GRCh37]
ChrX:Xq28
likely benign
NC_000023.10:g.(?_153195397)_(153583460_?)dup duplication Heterotopia, periventricular, X-linked dominant [RCV003107408]|Methylmalonic acidemia with homocystinuria, type cblX [RCV003122559]|not provided [RCV003122560] ChrX:153195397..153583460 [GRCh37]
ChrX:Xq28
uncertain significance|no classifications from unflagged records
NM_001110792.2(MECP2):c.1195C>A (p.Pro399Thr) single nucleotide variant not provided [RCV001574266] ChrX:154030669 [GRCh38]
ChrX:153296120 [GRCh37]
ChrX:Xq28
likely benign
NM_001110792.2(MECP2):c.1235C>T (p.Thr412Ile) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV002568481]|not provided [RCV001575045] ChrX:154030629 [GRCh38]
ChrX:153296080 [GRCh37]
ChrX:Xq28
likely benign
NM_001110792.2(MECP2):c.1137C>T (p.His379=) single nucleotide variant not provided [RCV001641134] ChrX:154030727 [GRCh38]
ChrX:153296178 [GRCh37]
ChrX:Xq28
benign
NC_000023.10:g.(?_153128118)_(153664237_?)dup duplication Heterotopia, periventricular, X-linked dominant [RCV003107402] ChrX:153128118..153664237 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.562C>T (p.Pro188Ser) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV002568315]|not provided [RCV001550288] ChrX:154031302 [GRCh38]
ChrX:153296753 [GRCh37]
ChrX:Xq28
likely benign
NM_001110792.2(MECP2):c.-28G>A single nucleotide variant not provided [RCV001582212] ChrX:154097693 [GRCh38]
ChrX:153363150 [GRCh37]
ChrX:Xq28
likely benign
NM_001110792.2(MECP2):c.840G>A (p.Arg280=) single nucleotide variant not provided [RCV001532222] ChrX:154031024 [GRCh38]
ChrX:153296475 [GRCh37]
ChrX:Xq28
likely benign
GRCh37/hg19 Xq25-28(chrX:122757437-155208244)x1 copy number loss Premature ovarian insufficiency [RCV000852349] ChrX:122757437..155208244 [GRCh37]
ChrX:Xq25-28
likely pathogenic
NM_001110792.2(MECP2):c.1223C>T (p.Ser408Phe) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV002542188] ChrX:154030641 [GRCh38]
ChrX:153296092 [GRCh37]
ChrX:Xq28
likely benign
NM_001110792.2(MECP2):c.1262G>A (p.Ser421Asn) single nucleotide variant not provided [RCV000886407] ChrX:154030602 [GRCh38]
ChrX:153296053 [GRCh37]
ChrX:Xq28
likely benign
NM_001110792.2(MECP2):c.63-1928_1277del deletion Severe neonatal-onset encephalopathy with microcephaly [RCV001210386] ChrX:154030587..154034485 [GRCh38]
ChrX:153296038..153299936 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.1270G>T (p.Val424Phe) single nucleotide variant MECP2-Related Disorder [RCV001249348] ChrX:154030594 [GRCh38]
ChrX:153296045 [GRCh37]
ChrX:Xq28
not provided
NM_001110792.2(MECP2):c.1496G>C (p.Ter499Ser) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV001035415]|Syndromic X-linked intellectual disability Lubs type [RCV002274117] ChrX:154030368 [GRCh38]
ChrX:153295819 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_001110792.2(MECP2):c.1253A>C (p.Gln418Pro) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV001236100] ChrX:154030611 [GRCh38]
ChrX:153296062 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.55G>A (p.Glu19Lys) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV001244819]|not provided [RCV001587274] ChrX:154097611 [GRCh38]
ChrX:153363068 [GRCh37]
ChrX:Xq28
likely benign|uncertain significance
NM_001110792.2(MECP2):c.23C>A (p.Ala8Glu) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV001245089] ChrX:154097643 [GRCh38]
ChrX:153363100 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.1092_1165del (p.Arg366fs) deletion not provided [RCV001200556] ChrX:154030699..154030772 [GRCh38]
ChrX:153296150..153296223 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.245C>G (p.Ser82Cys) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV001216969] ChrX:154032375 [GRCh38]
ChrX:153297826 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.550C>A (p.Pro184Thr) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV001344042]|not specified [RCV001193434] ChrX:154031314 [GRCh38]
ChrX:153296765 [GRCh37]
ChrX:Xq28
likely benign|uncertain significance
NM_001110792.2(MECP2):c.1304_1317del (p.Ser435fs) deletion not provided [RCV001090497] ChrX:154030547..154030560 [GRCh38]
ChrX:153295998..153296011 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.1269_1270delinsTT (p.Val424Phe) indel Severe neonatal-onset encephalopathy with microcephaly [RCV001034142] ChrX:154030594..154030595 [GRCh38]
ChrX:153296045..153296046 [GRCh37]
ChrX:Xq28
benign
NM_001110792.2(MECP2):c.478A>G (p.Thr160Ala) single nucleotide variant Inborn genetic diseases [RCV002332859]|Severe neonatal-onset encephalopathy with microcephaly [RCV000890166] ChrX:154031386 [GRCh38]
ChrX:153296837 [GRCh37]
ChrX:Xq28
likely benign|uncertain significance
NM_001110792.2(MECP2):c.1203T>A (p.Pro401=) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV001432371] ChrX:154030661 [GRCh38]
ChrX:153296112 [GRCh37]
ChrX:Xq28
likely benign
NM_001110792.2(MECP2):c.924G>A (p.Val308=) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV001474223] ChrX:154030940 [GRCh38]
ChrX:153296391 [GRCh37]
ChrX:Xq28
likely benign
NM_001110792.2(MECP2):c.413+242C>T single nucleotide variant not provided [RCV001562704] ChrX:154031965 [GRCh38]
ChrX:153297416 [GRCh37]
ChrX:Xq28
likely benign
NM_001110792.2(MECP2):c.553C>A (p.Pro185Thr) single nucleotide variant Rett syndrome [RCV000991000]|not provided [RCV003128734] ChrX:154031311 [GRCh38]
ChrX:153296762 [GRCh37]
ChrX:Xq28
likely pathogenic|uncertain significance
NM_001110792.2(MECP2):c.502G>T (p.Asp168Tyr) single nucleotide variant Rett syndrome [RCV000991002] ChrX:154031362 [GRCh38]
ChrX:153296813 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_001110792.2(MECP2):c.1143_1237del (p.His381fs) deletion not provided [RCV001725843] ChrX:154030627..154030721 [GRCh38]
ChrX:153296078..153296172 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.1132C>T (p.His378Tyr) single nucleotide variant not provided [RCV001552753] ChrX:154030732 [GRCh38]
ChrX:153296183 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.616_1227del (p.Ser206_Glu409del) deletion not provided [RCV002254485] ChrX:154030637..154031248 [GRCh38]
ChrX:153296088..153296699 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_001110792.2(MECP2):c.732C>T (p.Gly244=) single nucleotide variant not provided [RCV001576067] ChrX:154031132 [GRCh38]
ChrX:153296583 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.414-11T>A single nucleotide variant not provided [RCV002464700] ChrX:154031461 [GRCh38]
ChrX:153296912 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.1313G>A (p.Ser438Asn) single nucleotide variant not provided [RCV001546573] ChrX:154030551 [GRCh38]
ChrX:153296002 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.1193_1205del (p.Leu398fs) deletion not provided [RCV001008367] ChrX:154030659..154030671 [GRCh38]
ChrX:153296110..153296122 [GRCh37]
ChrX:Xq28
pathogenic
NC_000023.11:g.154097885= variation not provided [RCV001540617] ChrX:154097885 [GRCh38]
ChrX:153363342 [GRCh37]
ChrX:Xq28
benign
NM_001110792.2(MECP2):c.307C>T (p.Arg103Trp) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV001873817]|not provided [RCV001539474] ChrX:154032313 [GRCh38]
ChrX:153297764 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.62+5488dup duplication not provided [RCV001592537] ChrX:154092100..154092101 [GRCh38]
ChrX:153357558..153357559 [GRCh37]
ChrX:Xq28
likely benign
NM_001110792.2(MECP2):c.741G>A (p.Glu247=) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV002569024]|not provided [RCV001564515] ChrX:154031123 [GRCh38]
ChrX:153296574 [GRCh37]
ChrX:Xq28
likely benign
NM_001110792.2(MECP2):c.157_160del (p.Gly53fs) deletion not provided [RCV001008256] ChrX:154032460..154032463 [GRCh38]
ChrX:153297911..153297914 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.63-4487_1204del deletion Severe neonatal-onset encephalopathy with microcephaly [RCV001035085] ChrX:154030660..154037044 [GRCh38]
ChrX:153296111..153302495 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.1150C>T (p.His384Tyr) single nucleotide variant Rett syndrome [RCV003448359]|Severe neonatal-onset encephalopathy with microcephaly [RCV001242465]|not specified [RCV001000154] ChrX:154030714 [GRCh38]
ChrX:153296165 [GRCh37]
ChrX:Xq28
benign|likely benign|uncertain significance
GRCh37/hg19 Xq21.1-28(chrX:84387417-155233731)x1 copy number loss not provided [RCV001007322] ChrX:84387417..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xq28(chrX:153023149-153345755)x2 copy number gain not provided [RCV001007367] ChrX:153023149..153345755 [GRCh37]
ChrX:Xq28
likely pathogenic
NC_000023.10:g.(?_153295726)_(153363142_?)dup duplication Severe neonatal-onset encephalopathy with microcephaly [RCV001033709] ChrX:153295726..153363142 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.343G>A (p.Gly115Ser) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV001070837] ChrX:154032277 [GRCh38]
ChrX:153297728 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.1198C>A (p.Pro400Thr) single nucleotide variant Rett syndrome [RCV001004678] ChrX:154030666 [GRCh38]
ChrX:153296117 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq28(chrX:153194251-153623000)x2 copy number gain Intellectual disability [RCV001638055] ChrX:153194251..153623000 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.230C>A (p.Ser77Ter) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV001048131] ChrX:154032390 [GRCh38]
ChrX:153297841 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.*4T>C single nucleotide variant not provided [RCV001583671] ChrX:154030363 [GRCh38]
ChrX:153295814 [GRCh37]
ChrX:Xq28
likely benign
NM_001110792.2(MECP2):c.1132C>G (p.His378Asp) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV001070121] ChrX:154030732 [GRCh38]
ChrX:153296183 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.1091A>G (p.Lys364Arg) single nucleotide variant not provided [RCV001585093] ChrX:154030773 [GRCh38]
ChrX:153296224 [GRCh37]
ChrX:Xq28
likely benign
NC_000023.10:g.153296106_153296275delins[NC_000008.10:g.50305003_50392184inv;TTACACAG] indel Rett syndrome [RCV001171507] ChrX:153296106..153296275 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.962G>A (p.Arg321Gln) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV001235683] ChrX:154030902 [GRCh38]
ChrX:153296353 [GRCh37]
ChrX:Xq28
likely pathogenic|uncertain significance
NM_001110792.2(MECP2):c.1019_1233del (p.Leu340fs) deletion Severe neonatal-onset encephalopathy with microcephaly [RCV001219789] ChrX:154030631..154030845 [GRCh38]
ChrX:153296082..153296296 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.1189C>A (p.Pro397Thr) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV001060396] ChrX:154030675 [GRCh38]
ChrX:153296126 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.670del (p.Val224fs) deletion Severe neonatal-onset encephalopathy with microcephaly [RCV001060527] ChrX:154031194 [GRCh38]
ChrX:153296645 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.358C>T (p.Leu120Phe) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV001036360] ChrX:154032262 [GRCh38]
ChrX:153297713 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq28(chrX:153029046-153567369)x3 copy number gain not provided [RCV001007368] ChrX:153029046..153567369 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.1209_1236del (p.Glu404fs) deletion not provided [RCV001171552] ChrX:154030628..154030655 [GRCh38]
ChrX:153296079..153296106 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_001110792.2(MECP2):c.1268G>C (p.Ser423Thr) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV001203428] ChrX:154030596 [GRCh38]
ChrX:153296047 [GRCh37]
ChrX:Xq28
uncertain significance
NC_000023.10:g.(?_152990712)_(153650075_?)dup duplication X-linked Emery-Dreifuss muscular dystrophy [RCV001031812] ChrX:152990712..153650075 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.1172C>T (p.Pro391Leu) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV002561076]|not provided [RCV001200554] ChrX:154030692 [GRCh38]
ChrX:153296143 [GRCh37]
ChrX:Xq28
likely benign|uncertain significance
NM_001110792.2(MECP2):c.744_751del (p.Gly249fs) deletion Inborn genetic diseases [RCV001266395]|Severe neonatal-onset encephalopathy with microcephaly [RCV001059005] ChrX:154031113..154031120 [GRCh38]
ChrX:153296564..153296571 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.1168_1169del (p.Ala390fs) deletion Rett syndrome [RCV001250799] ChrX:154030695..154030696 [GRCh38]
ChrX:153296146..153296147 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq25-28(chrX:122132166-155097214) copy number loss Intellectual disability [RCV001249592] ChrX:122132166..155097214 [GRCh37]
ChrX:Xq25-28
likely pathogenic
NM_001110792.2(MECP2):c.1195C>T (p.Pro399Ser) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV001211021]|not provided [RCV001576811] ChrX:154030669 [GRCh38]
ChrX:153296120 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.2T>C (p.Met1Thr) single nucleotide variant Rett syndrome [RCV001250739] ChrX:154097664 [GRCh38]
ChrX:153363121 [GRCh37]
ChrX:Xq28
likely pathogenic|conflicting interpretations of pathogenicity
GRCh37/hg19 Xq28(chrX:152516781-153368573)x2 copy number gain not provided [RCV001007365] ChrX:152516781..153368573 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.661G>T (p.Val221Leu) single nucleotide variant not specified [RCV001193433] ChrX:154031203 [GRCh38]
ChrX:153296654 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.418C>A (p.Gln140Lys) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV001062759] ChrX:154031446 [GRCh38]
ChrX:153296897 [GRCh37]
ChrX:Xq28
likely pathogenic|uncertain significance
NM_001110792.2(MECP2):c.1275_*863del (p.Cys425_Ter499delinsXaa) deletion Severe neonatal-onset encephalopathy with microcephaly [RCV001038963] ChrX:154029504..154030589 [GRCh38]
ChrX:153294955..153296040 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.236G>T (p.Gly79Val) single nucleotide variant Autism, susceptibility to, X-linked 3 [RCV001196929]|Severe neonatal-onset encephalopathy with microcephaly [RCV002559252] ChrX:154032384 [GRCh38]
ChrX:153297835 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.148_149insGCCAAAG (p.Glu50fs) insertion Intellectual disability [RCV001293018]|Rett syndrome [RCV001253673] ChrX:154032471..154032472 [GRCh38]
ChrX:153297922..153297923 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.1314_1315insCGTCACTA (p.Asp439delinsArgHisTer) insertion Severe neonatal-onset encephalopathy with microcephaly [RCV001253725] ChrX:154030549..154030550 [GRCh38]
ChrX:153296000..153296001 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.1351_1359dup (p.Ala451_Ala453dup) duplication Rett syndrome [RCV001253646] ChrX:154030504..154030505 [GRCh38]
ChrX:153295955..153295956 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.1440dup (p.Pro481fs) duplication Severe neonatal-onset encephalopathy with microcephaly [RCV001879813]|Syndromic X-linked intellectual disability Lubs type [RCV001251127] ChrX:154030423..154030424 [GRCh38]
ChrX:153295874..153295875 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic
NC_000023.11:g.(?_153287263)_(153363189_?)dup duplication Non-syndromic X-linked intellectual disability [RCV001254853] ChrX:153287263..153363189 [GRCh38]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.177_180dup (p.Ser61fs) duplication Rett syndrome [RCV001251144] ChrX:154032439..154032440 [GRCh38]
ChrX:153297890..153297891 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_001110792.2(MECP2):c.1328A>C (p.Lys443Thr) single nucleotide variant Rett syndrome [RCV001253106] ChrX:154030536 [GRCh38]
ChrX:153295987 [GRCh37]
ChrX:Xq28
uncertain significance
NC_000023.11:g.(?_153287263)_(153363189_?)del deletion Rett syndrome [RCV001255544] ChrX:153287263..153363189 [GRCh38]
ChrX:Xq28
pathogenic
NC_000023.10:g.(?_153287263)_(153363189_?)dup duplication Non-syndromic X-linked intellectual disability [RCV001261472] ChrX:153287263..153363189 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq21.33-28(chrX:94264404-155233731)x1 copy number loss not provided [RCV001259012] ChrX:94264404..155233731 [GRCh37]
ChrX:Xq21.33-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3 copy number gain See cases [RCV001263024] ChrX:55507789..155198481 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_001110792.2(MECP2):c.799C>G (p.Arg267Gly) single nucleotide variant Intellectual disability [RCV001257759] ChrX:154031065 [GRCh38]
ChrX:153296516 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_001110792.2(MECP2):c.1176dup (p.Pro393fs) duplication not provided [RCV001268369] ChrX:154030687..154030688 [GRCh38]
ChrX:153296138..153296139 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_001110792.2(MECP2):c.1134_1237del (p.His378fs) deletion not provided [RCV001268383] ChrX:154030627..154030730 [GRCh38]
ChrX:153296078..153296181 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.1490_*12del (p.Val497fs) deletion not provided [RCV001268134] ChrX:154030355..154030374 [GRCh38]
ChrX:153295806..153295825 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.245_246insA (p.Ala83fs) insertion not provided [RCV001268210] ChrX:154032374..154032375 [GRCh38]
ChrX:153297825..153297826 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.62+1G>C single nucleotide variant not provided [RCV001268642] ChrX:154097603 [GRCh38]
ChrX:153363060 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_001110792.2(MECP2):c.52_59del (p.Glu18fs) deletion not provided [RCV001268899] ChrX:154097607..154097614 [GRCh38]
ChrX:153363064..153363071 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:1-155270560) copy number loss Turner syndrome [RCV002280668] ChrX:1..155270560 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NC_000023.10:g.(?_153287263)_(153363189_?)del deletion Rett syndrome [RCV001261461] ChrX:153287263..153363189 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.1080_1125del (p.Ser361fs) deletion not provided [RCV001268895] ChrX:154030739..154030784 [GRCh38]
ChrX:153296190..153296235 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:153113943-153624215)x2 copy number gain not provided [RCV001260058] ChrX:153113943..153624215 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:153135257-153594096)x3 copy number gain not provided [RCV001260059] ChrX:153135257..153594096 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:152815772-153624215) copy number gain Global developmental delay [RCV002280663] ChrX:152815772..153624215 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62685885-155233731) copy number loss Turner syndrome [RCV002280672] ChrX:62685885..155233731 [GRCh37]
ChrX:Xq11.1-28
pathogenic
GRCh37/hg19 Xq28(chrX:153296089-153296700) copy number loss Rett syndrome [RCV002280645] ChrX:153296089..153296700 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:1-155270560) copy number gain 46,XX sex reversal 1 [RCV002280665]|Hypotonia [RCV002280667]|Trisomy X syndrome [RCV002280666] ChrX:1..155270560 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001110792.2(MECP2):c.1118C>T (p.Pro373Leu) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV001315815] ChrX:154030746 [GRCh38]
ChrX:153296197 [GRCh37]
ChrX:Xq28
likely benign|uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3 copy number gain not provided [RCV001281359] ChrX:56469080..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_001110792.2(MECP2):c.465A>G (p.Glu155=) single nucleotide variant Rett syndrome [RCV001331333] ChrX:154031399 [GRCh38]
ChrX:153296850 [GRCh37]
ChrX:Xq28
uncertain significance
NC_000023.10:g.(?_153295726)_(153298028_?)dup duplication Severe neonatal-onset encephalopathy with microcephaly [RCV001300465] ChrX:153295726..153298028 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.73T>G (p.Ser25Ala) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV001339324] ChrX:154032547 [GRCh38]
ChrX:153297998 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.248C>G (p.Ala83Gly) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV001361402] ChrX:154032372 [GRCh38]
ChrX:153297823 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.399T>G (p.Asp133Glu) single nucleotide variant not provided [RCV001810713] ChrX:154032221 [GRCh38]
ChrX:153297672 [GRCh37]
ChrX:Xq28
benign
NM_001110792.2(MECP2):c.414-10G>A single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV001396631] ChrX:154031460 [GRCh38]
ChrX:153296911 [GRCh37]
ChrX:Xq28
likely benign
NM_001110792.2(MECP2):c.753C>T (p.Ala251=) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV001433133]|not provided [RCV003438794] ChrX:154031111 [GRCh38]
ChrX:153296562 [GRCh37]
ChrX:Xq28
likely benign
NM_001110792.2(MECP2):c.990A>G (p.Glu330=) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV001433246] ChrX:154030874 [GRCh38]
ChrX:153296325 [GRCh37]
ChrX:Xq28
likely benign
NM_001110792.2(MECP2):c.852G>C (p.Pro284=) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV001397245] ChrX:154031012 [GRCh38]
ChrX:153296463 [GRCh37]
ChrX:Xq28
likely benign
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV001391666] ChrX:153128098..153498669 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.920C>G (p.Ser307Cys) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV001372043]|not provided [RCV002243162] ChrX:154030944 [GRCh38]
ChrX:153296395 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.869C>T (p.Ala290Val) single nucleotide variant MECP2-related condition [RCV003394013]|Severe neonatal-onset encephalopathy with microcephaly [RCV001373177]|not provided [RCV002466670] ChrX:154030995 [GRCh38]
ChrX:153296446 [GRCh37]
ChrX:Xq28
likely benign|uncertain significance
NC_000023.10:g.(?_153297634)_(153298028_?)dup duplication Severe neonatal-onset encephalopathy with microcephaly [RCV001362834] ChrX:153297634..153298028 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.1209T>A (p.Pro403=) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV001343850] ChrX:154030655 [GRCh38]
ChrX:153296106 [GRCh37]
ChrX:Xq28
likely benign|uncertain significance
NM_001110792.2(MECP2):c.628_645dup (p.Arg210_Thr215dup) duplication Severe neonatal-onset encephalopathy with microcephaly [RCV001326736] ChrX:154031218..154031219 [GRCh38]
ChrX:153296669..153296670 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.422G>A (p.Gly141Glu) single nucleotide variant not provided [RCV001269666] ChrX:154031442 [GRCh38]
ChrX:153296893 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_001110792.2(MECP2):c.1271T>G (p.Val424Gly) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV001345018]|not provided [RCV001587364] ChrX:154030593 [GRCh38]
ChrX:153296044 [GRCh37]
ChrX:Xq28
likely benign|uncertain significance
GRCh38/hg38 Xq28(chrX:153858452-154332213)x2 copy number gain Chromosome Xq28 duplication syndrome [RCV001375670] ChrX:153858452..154332213 [GRCh38]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.1108G>T (p.Ala370Ser) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV001350453] ChrX:154030756 [GRCh38]
ChrX:153296207 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.1165_1179del (p.Lys389_Pro393del) deletion Severe neonatal-onset encephalopathy with microcephaly [RCV001299418] ChrX:154030685..154030699 [GRCh38]
ChrX:153296136..153296150 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.911C>G (p.Ser304Cys) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV001294905] ChrX:154030953 [GRCh38]
ChrX:153296404 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.1384T>C (p.Tyr462His) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV001347731] ChrX:154030480 [GRCh38]
ChrX:153295931 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.80A>C (p.Asp27Ala) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV001317181] ChrX:154032540 [GRCh38]
ChrX:153297991 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.88C>T (p.Leu30Phe) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV001340158]|not provided [RCV001806131] ChrX:154032532 [GRCh38]
ChrX:153297983 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.1414G>T (p.Asp472Tyr) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV001306074] ChrX:154030450 [GRCh38]
ChrX:153295901 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.507C>A (p.Phe169Leu) single nucleotide variant Rett syndrome [RCV001328391]|Severe neonatal-onset encephalopathy with microcephaly [RCV001863184] ChrX:154031357 [GRCh38]
ChrX:153296808 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1 copy number loss not provided [RCV001537933] ChrX:60000..155234966 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001110792.2(MECP2):c.1373C>T (p.Ala458Val) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV001306521] ChrX:154030491 [GRCh38]
ChrX:153295942 [GRCh37]
ChrX:Xq28
likely benign|uncertain significance
NM_001110792.2(MECP2):c.308G>A (p.Arg103Gln) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV001297075] ChrX:154032312 [GRCh38]
ChrX:153297763 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.1489G>C (p.Val497Leu) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV001299959] ChrX:154030375 [GRCh38]
ChrX:153295826 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.1013C>A (p.Ser338Tyr) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV001367642] ChrX:154030851 [GRCh38]
ChrX:153296302 [GRCh37]
ChrX:Xq28
benign|uncertain significance
NM_001110792.2(MECP2):c.63-5800_1271del deletion Epilepsy [RCV001293380] ChrX:154030593..154038357 [GRCh38]
ChrX:153296044..153303808 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_001110792.2(MECP2):c.1207C>A (p.Pro403Thr) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV001303511]|not provided [RCV003438739] ChrX:154030657 [GRCh38]
ChrX:153296108 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.905A>G (p.Glu302Gly) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV001365623] ChrX:154030959 [GRCh38]
ChrX:153296410 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.1289T>C (p.Met430Thr) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV001308315]|not provided [RCV003151850] ChrX:154030575 [GRCh38]
ChrX:153296026 [GRCh37]
ChrX:Xq28
benign|uncertain significance
NM_001110792.2(MECP2):c.1191C>T (p.Pro397=) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV001398943] ChrX:154030673 [GRCh38]
ChrX:153296124 [GRCh37]
ChrX:Xq28
likely benign
NM_001110792.2(MECP2):c.674dup (p.Glu226fs) duplication Severe neonatal-onset encephalopathy with microcephaly [RCV001384353] ChrX:154031189..154031190 [GRCh38]
ChrX:153296640..153296641 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.672C>A (p.Val224=) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV001469606] ChrX:154031192 [GRCh38]
ChrX:153296643 [GRCh37]
ChrX:Xq28
likely benign
NC_000023.10:g.(?_153292375)_(153296122_?)del deletion Severe neonatal-onset encephalopathy with microcephaly [RCV001389410] ChrX:153292375..153296122 [GRCh37]
ChrX:Xq28
pathogenic
NC_000023.10:g.(?_153357622)_(153363142_?)del deletion Severe neonatal-onset encephalopathy with microcephaly [RCV001389411] ChrX:153357622..153363142 [GRCh37]
ChrX:Xq28
pathogenic
NC_000023.10:g.(?_153294955)_153296040del deletion Severe neonatal-onset encephalopathy with microcephaly [RCV001389412]   pathogenic
NM_001110792.2(MECP2):c.855G>C (p.Gly285=) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV001495688] ChrX:154031009 [GRCh38]
ChrX:153296460 [GRCh37]
ChrX:Xq28
likely benign
NM_001110792.2(MECP2):c.1090_1242del (p.Lys364_Pro414del) deletion Severe neonatal-onset encephalopathy with microcephaly [RCV001389673] ChrX:154030622..154030774 [GRCh38]
ChrX:153296073..153296225 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.75A>G (p.Ser25=) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV001514296] ChrX:154032545 [GRCh38]
ChrX:153297996 [GRCh37]
ChrX:Xq28
benign
NM_001110792.2(MECP2):c.1249C>T (p.Pro417Ser) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV001462098] ChrX:154030615 [GRCh38]
ChrX:153296066 [GRCh37]
ChrX:Xq28
likely benign
NM_001110792.2(MECP2):c.1095G>A (p.Gly365=) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV001506174] ChrX:154030769 [GRCh38]
ChrX:153296220 [GRCh37]
ChrX:Xq28
likely benign
NM_001110792.2(MECP2):c.1371G>C (p.Thr457=) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV001469102] ChrX:154030493 [GRCh38]
ChrX:153295944 [GRCh37]
ChrX:Xq28
likely benign
NM_001110792.2(MECP2):c.1035G>A (p.Gly345=) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV001469103] ChrX:154030829 [GRCh38]
ChrX:153296280 [GRCh37]
ChrX:Xq28
likely benign
NM_001110792.2(MECP2):c.582A>G (p.Pro194=) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV001470265] ChrX:154031282 [GRCh38]
ChrX:153296733 [GRCh37]
ChrX:Xq28
likely benign
NM_001110792.2(MECP2):c.1476C>T (p.Pro492=) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV001489990] ChrX:154030388 [GRCh38]
ChrX:153295839 [GRCh37]
ChrX:Xq28
likely benign
NM_001110792.2(MECP2):c.1311G>A (p.Glu437=) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV001403036] ChrX:154030553 [GRCh38]
ChrX:153296004 [GRCh37]
ChrX:Xq28
likely benign
NM_001110792.2(MECP2):c.87C>T (p.Asp29=) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV001441029] ChrX:154032533 [GRCh38]
ChrX:153297984 [GRCh37]
ChrX:Xq28
likely benign
NM_001110792.2(MECP2):c.1059C>T (p.Ser353=) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV001402445] ChrX:154030805 [GRCh38]
ChrX:153296256 [GRCh37]
ChrX:Xq28
likely benign
NM_001110792.2(MECP2):c.765C>A (p.Thr255=) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV001412058] ChrX:154031099 [GRCh38]
ChrX:153296550 [GRCh37]
ChrX:Xq28
likely benign
NC_000023.10:g.(?_153296084)_153300925del deletion Severe neonatal-onset encephalopathy with microcephaly [RCV001378460]   likely pathogenic
NM_001110792.2(MECP2):c.398A>T (p.Asp133Val) single nucleotide variant Rett syndrome [RCV001420143] ChrX:154032222 [GRCh38]
ChrX:153297673 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_001110792.2(MECP2):c.1164_1173del (p.Lys389fs) deletion Severe neonatal-onset encephalopathy with microcephaly [RCV001390328] ChrX:154030691..154030700 [GRCh38]
ChrX:153296142..153296151 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.1236C>G (p.Thr412=) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV001403628] ChrX:154030628 [GRCh38]
ChrX:153296079 [GRCh37]
ChrX:Xq28
likely benign
NM_001110792.2(MECP2):c.984_1023del (p.Lys329fs) deletion Severe neonatal-onset encephalopathy with microcephaly [RCV001386239] ChrX:154030841..154030880 [GRCh38]
ChrX:153296292..153296331 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.1393C>A (p.Arg465=) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV001442295] ChrX:154030471 [GRCh38]
ChrX:153295922 [GRCh37]
ChrX:Xq28
likely benign
NC_000023.10:g.(?_153295424)_153296139del deletion Severe neonatal-onset encephalopathy with microcephaly [RCV001381816]   pathogenic
NC_000023.10:g.(?_153296038)_153299936del deletion Severe neonatal-onset encephalopathy with microcephaly [RCV001381818]   pathogenic
NC_000023.10:g.(?_153296109)_153302497del deletion Severe neonatal-onset encephalopathy with microcephaly [RCV001381819]   pathogenic
NC_000023.10:g.(?_153296112)_153302496del deletion Severe neonatal-onset encephalopathy with microcephaly [RCV001381820]   pathogenic
NC_000023.10:g.(?_153296119)_153305088del deletion Severe neonatal-onset encephalopathy with microcephaly [RCV001381821]   pathogenic
NC_000023.10:g.(?_153296141)_153303786del deletion Severe neonatal-onset encephalopathy with microcephaly [RCV001381822]   pathogenic
NC_000023.10:g.(?_153296154)_153302832del deletion Severe neonatal-onset encephalopathy with microcephaly [RCV001381823]   pathogenic
NM_001110792.2(MECP2):c.954_962del (p.Lys319_Arg321del) deletion Severe neonatal-onset encephalopathy with microcephaly [RCV001390995] ChrX:154030902..154030910 [GRCh38]
ChrX:153296353..153296361 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.74C>G (p.Ser25Ter) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV001384305] ChrX:154032546 [GRCh38]
ChrX:153297997 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.930_958del (p.Glu310fs) deletion Severe neonatal-onset encephalopathy with microcephaly [RCV001382105] ChrX:154030906..154030934 [GRCh38]
ChrX:153296357..153296385 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.1014C>T (p.Ser338=) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV001411539]|not provided [RCV001546255] ChrX:154030850 [GRCh38]
ChrX:153296301 [GRCh37]
ChrX:Xq28
likely benign
NM_001110792.2(MECP2):c.1193_1230del (p.Leu398fs) deletion not provided [RCV001508973] ChrX:154030634..154030671 [GRCh38]
ChrX:153296085..153296122 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.917G>A (p.Arg306Gln) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV001465292]|not provided [RCV001558098] ChrX:154030947 [GRCh38]
ChrX:153296398 [GRCh37]
ChrX:Xq28
likely benign
NM_001110792.2(MECP2):c.1359C>T (p.Ala453=) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV001516065] ChrX:154030505 [GRCh38]
ChrX:153295956 [GRCh37]
ChrX:Xq28
benign
NM_001110792.2(MECP2):c.1102A>G (p.Ser368Gly) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV001521418] ChrX:154030762 [GRCh38]
ChrX:153296213 [GRCh37]
ChrX:Xq28
benign
NM_001110792.2(MECP2):c.954C>G (p.Arg318=) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV001459752] ChrX:154030910 [GRCh38]
ChrX:153296361 [GRCh37]
ChrX:Xq28
likely benign
NM_001110792.2(MECP2):c.1369A>G (p.Thr457Ala) single nucleotide variant not provided [RCV001589673] ChrX:154030495 [GRCh38]
ChrX:153295946 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.192C>G (p.His64Gln) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV001480968]|not provided [RCV001576872] ChrX:154032428 [GRCh38]
ChrX:153297879 [GRCh37]
ChrX:Xq28
likely benign
NM_001110792.2(MECP2):c.1350C>T (p.Pro450=) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV001500916] ChrX:154030514 [GRCh38]
ChrX:153295965 [GRCh37]
ChrX:Xq28
likely benign
NM_001110792.2(MECP2):c.587C>G (p.Thr196Ser) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV001513735]|not provided [RCV001724326] ChrX:154031277 [GRCh38]
ChrX:153296728 [GRCh37]
ChrX:Xq28
benign|uncertain significance
NM_001110792.2(MECP2):c.606C>T (p.Arg202=) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV001460843] ChrX:154031258 [GRCh38]
ChrX:153296709 [GRCh37]
ChrX:Xq28
likely benign
NM_001110792.2(MECP2):c.1171C>T (p.Pro391Ser) single nucleotide variant Inborn genetic diseases [RCV002568044]|Severe neonatal-onset encephalopathy with microcephaly [RCV001523564]|not provided [RCV001562588] ChrX:154030693 [GRCh38]
ChrX:153296144 [GRCh37]
ChrX:Xq28
benign|likely benign|uncertain significance
NM_001110792.2(MECP2):c.1185C>G (p.Leu395=) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV001439235] ChrX:154030679 [GRCh38]
ChrX:153296130 [GRCh37]
ChrX:Xq28
likely benign
NM_001110792.2(MECP2):c.861G>A (p.Val287=) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV001394360] ChrX:154031003 [GRCh38]
ChrX:153296454 [GRCh37]
ChrX:Xq28
likely benign
NM_001110792.2(MECP2):c.480A>G (p.Thr160=) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV001417341] ChrX:154031384 [GRCh38]
ChrX:153296835 [GRCh37]
ChrX:Xq28
likely benign
NM_001110792.2(MECP2):c.420G>A (p.Gln140=) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV001484516] ChrX:154031444 [GRCh38]
ChrX:153296895 [GRCh37]
ChrX:Xq28
likely benign
NM_001110792.2(MECP2):c.483C>A (p.Ser161=) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV001469001] ChrX:154031381 [GRCh38]
ChrX:153296832 [GRCh37]
ChrX:Xq28
likely benign
NM_001110792.2(MECP2):c.129G>A (p.Val43=) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV001487746] ChrX:154032491 [GRCh38]
ChrX:153297942 [GRCh37]
ChrX:Xq28
likely benign
NM_001110792.2(MECP2):c.806C>G (p.Ala269Gly) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV001513844] ChrX:154031058 [GRCh38]
ChrX:153296509 [GRCh37]
ChrX:Xq28
benign
NM_001110792.2(MECP2):c.1303T>C (p.Ser435Pro) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV001519493]|not provided [RCV003438858] ChrX:154030561 [GRCh38]
ChrX:153296012 [GRCh37]
ChrX:Xq28
benign|likely benign
NM_001110792.2(MECP2):c.1439G>C (p.Arg480Thr) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV001512183] ChrX:154030425 [GRCh38]
ChrX:153295876 [GRCh37]
ChrX:Xq28
benign
NM_001110792.2(MECP2):c.186C>T (p.Ala62=) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV001477281] ChrX:154032434 [GRCh38]
ChrX:153297885 [GRCh37]
ChrX:Xq28
likely benign
NM_001110792.2(MECP2):c.1119C>T (p.Pro373=) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV001481724] ChrX:154030745 [GRCh38]
ChrX:153296196 [GRCh37]
ChrX:Xq28
likely benign
NM_001110792.2(MECP2):c.669G>T (p.Arg223Ser) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV001471449] ChrX:154031195 [GRCh38]
ChrX:153296646 [GRCh37]
ChrX:Xq28
likely benign
NC_000023.10:g.(?_153295985)_153299903del deletion Severe neonatal-onset encephalopathy with microcephaly [RCV001381817]   pathogenic
NM_001110792.2(MECP2):c.723G>A (p.Ser241=) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV001402076] ChrX:154031141 [GRCh38]
ChrX:153296592 [GRCh37]
ChrX:Xq28
likely benign
NM_001110792.2(MECP2):c.45A>C (p.Gly15=) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV001393403] ChrX:154097621 [GRCh38]
ChrX:153363078 [GRCh37]
ChrX:Xq28
likely benign
NM_001110792.2(MECP2):c.813C>A (p.Ala271=) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV001434762] ChrX:154031051 [GRCh38]
ChrX:153296502 [GRCh37]
ChrX:Xq28
likely benign
NM_001110792.2(MECP2):c.1167G>A (p.Lys389=) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV001434985] ChrX:154030697 [GRCh38]
ChrX:153296148 [GRCh37]
ChrX:Xq28
likely benign
NM_001110792.2(MECP2):c.1287G>A (p.Lys429=) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV001400349] ChrX:154030577 [GRCh38]
ChrX:153296028 [GRCh37]
ChrX:Xq28
likely benign
NM_001110792.2(MECP2):c.998del (p.Lys333fs) deletion Severe neonatal-onset encephalopathy with microcephaly [RCV001386174] ChrX:154030866 [GRCh38]
ChrX:153296317 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.765_1042del (p.Gln256fs) deletion Severe neonatal-onset encephalopathy with microcephaly [RCV001389999] ChrX:154030822..154031099 [GRCh38]
ChrX:153296273..153296550 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.231del (p.Glu78fs) deletion Severe neonatal-onset encephalopathy with microcephaly [RCV001390003] ChrX:154032389 [GRCh38]
ChrX:153297840 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.969G>A (p.Thr323=) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV001419283] ChrX:154030895 [GRCh38]
ChrX:153296346 [GRCh37]
ChrX:Xq28
likely benign
NM_001110792.2(MECP2):c.549A>G (p.Lys183=) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV001402738] ChrX:154031315 [GRCh38]
ChrX:153296766 [GRCh37]
ChrX:Xq28
likely benign
NM_001110792.2(MECP2):c.215G>A (p.Gly72Asp) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV001378002] ChrX:154032405 [GRCh38]
ChrX:153297856 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_001110792.2(MECP2):c.254_260del (p.Ala85fs) deletion Rett syndrome [RCV002238614] ChrX:154032360..154032366 [GRCh38]
ChrX:153297811..153297817 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_001110792.2(MECP2):c.1116_1117delinsTA (p.Pro373Thr) indel Severe neonatal-onset encephalopathy with microcephaly [RCV003093918]|not specified [RCV002238615] ChrX:154030747..154030748 [GRCh38]
ChrX:153296198..153296199 [GRCh37]
ChrX:Xq28
likely benign|uncertain significance
NC_000023.10:g.(?_152014869)_(155171615_?)del deletion 3-Methylglutaconic aciduria type 2 [RCV003119101]|Adrenoleukodystrophy [RCV003119100]|Creatine transporter deficiency [RCV003119103]|Heterotopia, periventricular, X-linked dominant [RCV003109218]|Spastic paraplegia [RCV003109219]|X-linked Emery-Dreifuss muscular dystrophy [RCV003119102] ChrX:152014869..155171615 [GRCh37]
ChrX:Xq28
pathogenic
NC_000023.10:g.(?_152014869)_(153363122_?)dup duplication Adrenoleukodystrophy [RCV003119105]|not provided [RCV003109220] ChrX:152014869..153363122 [GRCh37]
ChrX:Xq28
uncertain significance|no classifications from unflagged records
NM_001110792.2(MECP2):c.1445A>T (p.Asn482Ile) single nucleotide variant not provided [RCV001761368] ChrX:154030419 [GRCh38]
ChrX:153295870 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.337C>A (p.Pro113Thr) single nucleotide variant not provided [RCV001782431] ChrX:154032283 [GRCh38]
ChrX:153297734 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_001110792.2(MECP2):c.808_1334del (p.Glu270fs) deletion Rett syndrome [RCV002255242] ChrX:154030530..154031056 [GRCh38]
ChrX:153295981..153296507 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic
NM_001110792.2(MECP2):c.1241C>G (p.Pro414Arg) single nucleotide variant not provided [RCV001777011] ChrX:154030623 [GRCh38]
ChrX:153296074 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.109C>T (p.Pro37Ser) single nucleotide variant not provided [RCV001769336] ChrX:154032511 [GRCh38]
ChrX:153297962 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.242G>T (p.Gly81Val) single nucleotide variant MECP2-related condition [RCV003416423]|Severe neonatal-onset encephalopathy with microcephaly [RCV002540260]|not provided [RCV001770566] ChrX:154032378 [GRCh38]
ChrX:153297829 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.1209_*6del (p.Glu404fs) deletion Rett syndrome [RCV001754565] ChrX:154030361..154030655 [GRCh38]
ChrX:153295812..153296106 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.462C>G (p.Phe154Leu) single nucleotide variant not provided [RCV001763332] ChrX:154031402 [GRCh38]
ChrX:153296853 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.853_883del (p.Gly285fs) deletion not provided [RCV003238388] ChrX:154030981..154031011 [GRCh38]
ChrX:153296432..153296462 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.824C>G (p.Ala275Gly) single nucleotide variant not provided [RCV001767011] ChrX:154031040 [GRCh38]
ChrX:153296491 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.577G>T (p.Ala193Ser) single nucleotide variant not provided [RCV001773318] ChrX:154031287 [GRCh38]
ChrX:153296738 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.884C>A (p.Ala295Asp) single nucleotide variant not provided [RCV001752257] ChrX:154030980 [GRCh38]
ChrX:153296431 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.642C>T (p.Ala214=) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV002541241]|not provided [RCV001786261] ChrX:154031222 [GRCh38]
ChrX:153296673 [GRCh37]
ChrX:Xq28
likely benign
NM_001110792.2(MECP2):c.1198_1224del (p.Pro400_Ser408del) deletion Severe neonatal-onset encephalopathy with microcephaly [RCV002544087]|not provided [RCV001767784] ChrX:154030640..154030666 [GRCh38]
ChrX:153296091..153296117 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.1212G>C (p.Glu404Asp) single nucleotide variant not provided [RCV001794597] ChrX:154030652 [GRCh38]
ChrX:153296103 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.557A>C (p.Lys186Thr) single nucleotide variant not provided [RCV001761436] ChrX:154031307 [GRCh38]
ChrX:153296758 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.635A>C (p.Lys212Thr) single nucleotide variant not provided [RCV001733302] ChrX:154031229 [GRCh38]
ChrX:153296680 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.1209_1243del (p.Pro403_Glu404insTer) deletion Inborn genetic diseases [RCV002538717]|Rett syndrome [RCV001733390] ChrX:154030621..154030655 [GRCh38]
ChrX:153296072..153296106 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic
NM_001110792.2(MECP2):c.62+5439T>C single nucleotide variant not specified [RCV001797909] ChrX:154092165 [GRCh38]
ChrX:153357623 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.1138C>T (p.His380Tyr) single nucleotide variant MECP2-related condition [RCV003407808]|Rett syndrome [RCV001784168] ChrX:154030726 [GRCh38]
ChrX:153296177 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.385_388delinsTCCT (p.Ala129_Gly130delinsSerTrp) indel not provided [RCV001806976] ChrX:154032232..154032235 [GRCh38]
ChrX:153297683..153297686 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.967A>G (p.Thr323Ala) single nucleotide variant not provided [RCV001794971] ChrX:154030897 [GRCh38]
ChrX:153296348 [GRCh37]
ChrX:Xq28
likely benign
NM_001110792.2(MECP2):c.1151_1154delinsCCCA (p.His384_Ser385delinsProGln) indel not provided [RCV001757820] ChrX:154030710..154030713 [GRCh38]
ChrX:153296161..153296164 [GRCh37]
ChrX:Xq28
benign|uncertain significance
NM_001110792.2(MECP2):c.937C>G (p.Leu313Val) single nucleotide variant Inborn genetic diseases [RCV002558489]|Rett syndrome [RCV002466274]|Severe neonatal-onset encephalopathy with microcephaly [RCV001928901] ChrX:154030927 [GRCh38]
ChrX:153296378 [GRCh37]
ChrX:Xq28
likely pathogenic|uncertain significance
NM_001110792.2(MECP2):c.920C>A (p.Ser307Tyr) single nucleotide variant not provided [RCV001837675] ChrX:154030944 [GRCh38]
ChrX:153296395 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.413+5G>A single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV002034686]|Syndromic X-linked intellectual disability Lubs type [RCV001825254] ChrX:154032202 [GRCh38]
ChrX:153297653 [GRCh37]
ChrX:Xq28
uncertain significance|not provided
NM_001110792.2(MECP2):c.1179_1190del (p.Leu395_Leu398del) deletion Severe neonatal-onset encephalopathy with microcephaly [RCV001915381] ChrX:154030674..154030685 [GRCh38]
ChrX:153296125..153296136 [GRCh37]
ChrX:Xq28
uncertain significance
NC_000023.10:g.(?_153295063)_(153296130_?)del deletion Severe neonatal-onset encephalopathy with microcephaly [RCV001949660] ChrX:153295063..153296130 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:152740984-153431748)x2 copy number gain not provided [RCV001829153] ChrX:152740984..153431748 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.140_144del (p.Lys47fs) deletion Severe neonatal-onset encephalopathy with microcephaly [RCV001874032] ChrX:154032476..154032480 [GRCh38]
ChrX:153297927..153297931 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.1030A>G (p.Ser344Gly) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV001970775] ChrX:154030834 [GRCh38]
ChrX:153296285 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq28(chrX:153105394-153421839) copy number gain not specified [RCV002053207] ChrX:153105394..153421839 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:153347671-153418991) copy number gain not specified [RCV002053213] ChrX:153347671..153418991 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq28(chrX:153135263-153594168) copy number gain not specified [RCV002053209] ChrX:153135263..153594168 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:153261390-153322230) copy number loss not specified [RCV002053210] ChrX:153261390..153322230 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:153277379-153317880) copy number loss not specified [RCV002053212] ChrX:153277379..153317880 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.1084_1314del (p.Ser362_Ser438del) deletion Developmental disorder [RCV001843772] ChrX:154030550..154030780 [GRCh38]
ChrX:153296001..153296231 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV001834509] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001110792.2(MECP2):c.1141C>T (p.His381Tyr) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV002021030] ChrX:154030723 [GRCh38]
ChrX:153296174 [GRCh37]
ChrX:Xq28
uncertain significance
NC_000023.10:g.(?_152986307)_(153593345_?)dup duplication Heterotopia, periventricular, X-linked dominant [RCV001967054] ChrX:152986307..153593345 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.91C>G (p.Gln31Glu) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV001912577] ChrX:154032529 [GRCh38]
ChrX:153297980 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq28(chrX:153113943-153624020) copy number gain not specified [RCV002053208] ChrX:153113943..153624020 [GRCh37]
ChrX:Xq28
pathogenic
NC_000023.10:g.(?_153288018)_(153296120_?)del deletion Severe neonatal-onset encephalopathy with microcephaly [RCV001970181] ChrX:153288018..153296120 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.1277_1278del (p.Lys426fs) deletion Severe neonatal-onset encephalopathy with microcephaly [RCV001949468] ChrX:154030586..154030587 [GRCh38]
ChrX:153296037..153296038 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:152970475-153524157) copy number gain not specified [RCV002053204] ChrX:152970475..153524157 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:153269534-153438781) copy number gain not specified [RCV002053211] ChrX:153269534..153438781 [GRCh37]
ChrX:Xq28
pathogenic
NC_000023.10:g.(?_153296122)_(153316446_?)dup duplication Severe neonatal-onset encephalopathy with microcephaly [RCV001987607] ChrX:153296122..153316446 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.1200_1223del (p.Pro401_Ser408del) deletion Severe neonatal-onset encephalopathy with microcephaly [RCV001945523] ChrX:154030641..154030664 [GRCh38]
ChrX:153296092..153296115 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.1147C>T (p.His383Tyr) single nucleotide variant Syndromic X-linked intellectual disability Lubs type [RCV001843411] ChrX:154030717 [GRCh38]
ChrX:153296168 [GRCh37]
ChrX:Xq28
uncertain significance
NC_000023.10:g.(?_153294907)_(153296120_?)del deletion Severe neonatal-onset encephalopathy with microcephaly [RCV002002295] ChrX:153294907..153296120 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.1120_1252del (p.Pro374fs) deletion Severe neonatal-onset encephalopathy with microcephaly [RCV001913795] ChrX:154030612..154030744 [GRCh38]
ChrX:153296063..153296195 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain not provided [RCV001829212] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001110792.2(MECP2):c.826A>G (p.Ile276Val) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV001872801] ChrX:154031038 [GRCh38]
ChrX:153296489 [GRCh37]
ChrX:Xq28
uncertain significance
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV001839062] ChrX:140888048..154656872 [GRCh38]
ChrX:Xq27.1-28
pathogenic
NM_001110792.2(MECP2):c.406T>G (p.Leu136Val) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV002006896] ChrX:154032214 [GRCh38]
ChrX:153297665 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_001110792.2(MECP2):c.118T>C (p.Phe40Leu) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV001985303] ChrX:154032502 [GRCh38]
ChrX:153297953 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq28(chrX:153347671-153421839) copy number gain not specified [RCV002053214] ChrX:153347671..153421839 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.1143_1145del (p.His384del) deletion Severe neonatal-onset encephalopathy with microcephaly [RCV001986360] ChrX:154030719..154030721 [GRCh38]
ChrX:153296170..153296172 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.92A>C (p.Gln31Pro) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV001872798] ChrX:154032528 [GRCh38]
ChrX:153297979 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.56A>G (p.Glu19Gly) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV001913269] ChrX:154097610 [GRCh38]
ChrX:153363067 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.62+3G>C single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV001984368] ChrX:154097601 [GRCh38]
ChrX:153363058 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.40G>A (p.Gly14Arg) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV001889792] ChrX:154097626 [GRCh38]
ChrX:153363083 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.1199del (p.Pro400fs) deletion Severe neonatal-onset encephalopathy with microcephaly [RCV001912904]|not provided [RCV003228017] ChrX:154030665 [GRCh38]
ChrX:153296116 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:153093501-153792322)x2 copy number gain not provided [RCV001834439] ChrX:153093501..153792322 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.1180dup (p.Leu394fs) duplication Severe neonatal-onset encephalopathy with microcephaly [RCV001943964] ChrX:154030683..154030684 [GRCh38]
ChrX:153296134..153296135 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.311G>A (p.Gly104Glu) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV001941309] ChrX:154032309 [GRCh38]
ChrX:153297760 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.1172_1215del (p.Pro391fs) deletion Severe neonatal-onset encephalopathy with microcephaly [RCV001954644] ChrX:154030649..154030692 [GRCh38]
ChrX:153296100..153296143 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.573_574insT (p.Lys192Ter) insertion Severe neonatal-onset encephalopathy with microcephaly [RCV001897006] ChrX:154031290..154031291 [GRCh38]
ChrX:153296741..153296742 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.509C>A (p.Thr170Lys) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV002010858] ChrX:154031355 [GRCh38]
ChrX:153296806 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_001110792.2(MECP2):c.1170_1183del (p.Val392fs) deletion Neurodevelopmental delay [RCV002274236]|Severe neonatal-onset encephalopathy with microcephaly [RCV002037861] ChrX:154030681..154030694 [GRCh38]
ChrX:153296132..153296145 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.878C>G (p.Ala293Gly) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV002039175] ChrX:154030986 [GRCh38]
ChrX:153296437 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.358C>G (p.Leu120Val) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV001915903] ChrX:154032262 [GRCh38]
ChrX:153297713 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.970dup (p.Val324fs) duplication Severe neonatal-onset encephalopathy with microcephaly [RCV001939480] ChrX:154030893..154030894 [GRCh38]
ChrX:153296344..153296345 [GRCh37]
ChrX:Xq28
pathogenic
NC_000023.10:g.(?_153357622)_(153363122_?)dup duplication Severe neonatal-onset encephalopathy with microcephaly [RCV001942931] ChrX:153357622..153363122 [GRCh37]
ChrX:Xq28
uncertain significance
NC_000023.10:g.(?_153295526)_(153296087_?)del deletion Severe neonatal-onset encephalopathy with microcephaly [RCV002037930] ChrX:153295526..153296087 [GRCh37]
ChrX:Xq28
pathogenic
NC_000023.10:g.(?_153295580)_(153296752_?)del deletion Severe neonatal-onset encephalopathy with microcephaly [RCV001963211] ChrX:153295580..153296752 [GRCh37]
ChrX:Xq28
pathogenic
NC_000023.10:g.(?_153277310)_(153298028_?)del deletion Severe neonatal-onset encephalopathy with microcephaly [RCV001938599] ChrX:153277310..153298028 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.724C>G (p.Pro242Ala) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV001900325] ChrX:154031140 [GRCh38]
ChrX:153296591 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.529C>T (p.Pro177Ser) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV002015021] ChrX:154031335 [GRCh38]
ChrX:153296786 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.898_1014del (p.Val300_Ser338del) deletion Severe neonatal-onset encephalopathy with microcephaly [RCV001991153] ChrX:154030850..154030966 [GRCh38]
ChrX:153296301..153296417 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.671T>A (p.Val224Asp) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV001972893]|not provided [RCV002280200] ChrX:154031193 [GRCh38]
ChrX:153296644 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.724C>A (p.Pro242Thr) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV001936687]|not provided [RCV003134273]|not specified [RCV002246606] ChrX:154031140 [GRCh38]
ChrX:153296591 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.1277A>G (p.Lys426Arg) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV001882010] ChrX:154030587 [GRCh38]
ChrX:153296038 [GRCh37]
ChrX:Xq28
benign|uncertain significance
NC_000023.10:g.(?_152482081)_(153416424_?)del deletion Severe neonatal-onset encephalopathy with microcephaly [RCV001953905] ChrX:152482081..153416424 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.1268dup (p.Ser423fs) duplication Severe neonatal-onset encephalopathy with microcephaly [RCV001972468] ChrX:154030595..154030596 [GRCh38]
ChrX:153296046..153296047 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.1191_1205del (p.Leu398_Pro402del) deletion Severe neonatal-onset encephalopathy with microcephaly [RCV002048210] ChrX:154030659..154030673 [GRCh38]
ChrX:153296110..153296124 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.283C>T (p.Gln95Ter) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV001939126] ChrX:154032337 [GRCh38]
ChrX:153297788 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.93G>C (p.Gln31His) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV001883929] ChrX:154032527 [GRCh38]
ChrX:153297978 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.798_837del (p.Lys266fs) deletion Severe neonatal-onset encephalopathy with microcephaly [RCV001925264] ChrX:154031027..154031066 [GRCh38]
ChrX:153296478..153296517 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.1058G>A (p.Ser353Asn) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV001867609] ChrX:154030806 [GRCh38]
ChrX:153296257 [GRCh37]
ChrX:Xq28
likely benign|uncertain significance
NC_000023.10:g.(?_153296108)_(153301856_?)del deletion Severe neonatal-onset encephalopathy with microcephaly [RCV001997197] ChrX:153296108..153301856 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.463G>A (p.Glu155Lys) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV001981972] ChrX:154031401 [GRCh38]
ChrX:153296852 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.356A>G (p.Lys119Arg) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV001906666] ChrX:154032264 [GRCh38]
ChrX:153297715 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.1201_1237del (p.Pro401fs) deletion Severe neonatal-onset encephalopathy with microcephaly [RCV001878148] ChrX:154030627..154030663 [GRCh38]
ChrX:153296078..153296114 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.1354G>C (p.Val452Leu) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV001918552] ChrX:154030510 [GRCh38]
ChrX:153295961 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.282A>G (p.Lys94=) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV002033464] ChrX:154032338 [GRCh38]
ChrX:153297789 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.464A>C (p.Glu155Ala) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV001998645] ChrX:154031400 [GRCh38]
ChrX:153296851 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.1075A>C (p.Lys359Gln) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV001999234] ChrX:154030789 [GRCh38]
ChrX:153296240 [GRCh37]
ChrX:Xq28
uncertain significance
NC_000023.10:g.(?_153295885)_(153296418_?)del deletion Severe neonatal-onset encephalopathy with microcephaly [RCV001974998] ChrX:153295885..153296418 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.1020_1021insA (p.Gly341fs) insertion Severe neonatal-onset encephalopathy with microcephaly [RCV002035425] ChrX:154030843..154030844 [GRCh38]
ChrX:153296294..153296295 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.43G>A (p.Gly15Arg) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV001992132] ChrX:154097623 [GRCh38]
ChrX:153363080 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.11C>T (p.Ala4Val) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV001923949] ChrX:154097655 [GRCh38]
ChrX:153363112 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.1182_1229del (p.Leu395_Asp410del) deletion Severe neonatal-onset encephalopathy with microcephaly [RCV001981776] ChrX:154030635..154030682 [GRCh38]
ChrX:153296086..153296133 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.1279GAG[1] (p.Glu428del) microsatellite Severe neonatal-onset encephalopathy with microcephaly [RCV001980972] ChrX:154030580..154030582 [GRCh38]
ChrX:153296031..153296033 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.536G>C (p.Arg179Pro) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV001980568] ChrX:154031328 [GRCh38]
ChrX:153296779 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_001110792.2(MECP2):c.1328dup (p.Glu444fs) duplication Severe neonatal-onset encephalopathy with microcephaly [RCV001956409] ChrX:154030535..154030536 [GRCh38]
ChrX:153295986..153295987 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.29G>C (p.Ser10Thr) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV002028145] ChrX:154097637 [GRCh38]
ChrX:153363094 [GRCh37]
ChrX:Xq28
uncertain significance
NC_000023.10:g.(?_153296109)_(153297633_?)del deletion Severe neonatal-onset encephalopathy with microcephaly [RCV001875292] ChrX:153296109..153297633 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.1200_1224del (p.Pro401fs) deletion Severe neonatal-onset encephalopathy with microcephaly [RCV001951110]|not provided [RCV002290818] ChrX:154030640..154030664 [GRCh38]
ChrX:153296091..153296115 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.1179_1186del (p.Leu394fs) deletion Severe neonatal-onset encephalopathy with microcephaly [RCV001993276] ChrX:154030678..154030685 [GRCh38]
ChrX:153296129..153296136 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.68A>G (p.Glu23Gly) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV002046520]|not provided [RCV003438912] ChrX:154032552 [GRCh38]
ChrX:153298003 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.477C>G (p.Asp159Glu) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV001957206] ChrX:154031387 [GRCh38]
ChrX:153296838 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.62+15C>T single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV002073453] ChrX:154097589 [GRCh38]
ChrX:153363046 [GRCh37]
ChrX:Xq28
likely benign
NM_001110792.2(MECP2):c.248C>A (p.Ala83Asp) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV002109086] ChrX:154032372 [GRCh38]
ChrX:153297823 [GRCh37]
ChrX:Xq28
likely benign
NM_001110792.2(MECP2):c.1302C>G (p.Gly434=) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV002107879] ChrX:154030562 [GRCh38]
ChrX:153296013 [GRCh37]
ChrX:Xq28
likely benign
NM_001110792.2(MECP2):c.888A>G (p.Lys296=) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV002192314] ChrX:154030976 [GRCh38]
ChrX:153296427 [GRCh37]
ChrX:Xq28
benign
NM_001110792.2(MECP2):c.1215C>G (p.Pro405=) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV002126302] ChrX:154030649 [GRCh38]
ChrX:153296100 [GRCh37]
ChrX:Xq28
likely benign
NM_001110792.2(MECP2):c.372A>G (p.Lys124=) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV002071324] ChrX:154032248 [GRCh38]
ChrX:153297699 [GRCh37]
ChrX:Xq28
likely benign
NM_001110792.2(MECP2):c.434G>C (p.Arg145Pro) single nucleotide variant Rett syndrome [RCV002226590] ChrX:154031430 [GRCh38]
ChrX:153296881 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.673C>G (p.Leu225Val) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV003089209]|not provided [RCV002226170] ChrX:154031191 [GRCh38]
ChrX:153296642 [GRCh37]
ChrX:Xq28
benign|likely benign
NM_001110792.2(MECP2):c.1419T>C (p.Ile473=) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV002197427] ChrX:154030445 [GRCh38]
ChrX:153295896 [GRCh37]
ChrX:Xq28
likely benign
NM_001110792.2(MECP2):c.1292C>T (p.Pro431Leu) single nucleotide variant See cases [RCV002252770]|Severe neonatal-onset encephalopathy with microcephaly [RCV002133800] ChrX:154030572 [GRCh38]
ChrX:153296023 [GRCh37]
ChrX:Xq28
benign|uncertain significance
NM_001110792.2(MECP2):c.631C>T (p.Pro211Ser) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV002149391] ChrX:154031233 [GRCh38]
ChrX:153296684 [GRCh37]
ChrX:Xq28
benign
NM_001110792.2(MECP2):c.672C>T (p.Val224=) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV002153025] ChrX:154031192 [GRCh38]
ChrX:153296643 [GRCh37]
ChrX:Xq28
likely benign
NM_001110792.2(MECP2):c.1317C>T (p.Asp439=) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV002116087] ChrX:154030547 [GRCh38]
ChrX:153295998 [GRCh37]
ChrX:Xq28
benign
NM_001110792.2(MECP2):c.1131G>A (p.Glu377=) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV002212387] ChrX:154030733 [GRCh38]
ChrX:153296184 [GRCh37]
ChrX:Xq28
benign
NM_001110792.2(MECP2):c.1240C>T (p.Pro414Ser) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV002193977] ChrX:154030624 [GRCh38]
ChrX:153296075 [GRCh37]
ChrX:Xq28
benign
NM_001110792.2(MECP2):c.573C>G (p.Pro191=) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV002115713] ChrX:154031291 [GRCh38]
ChrX:153296742 [GRCh37]
ChrX:Xq28
benign
NM_001110792.2(MECP2):c.759A>G (p.Thr253=) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV002079352]|not provided [RCV003438959] ChrX:154031105 [GRCh38]
ChrX:153296556 [GRCh37]
ChrX:Xq28
likely benign
NM_001110792.2(MECP2):c.1137C>G (p.His379Gln) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV002115773] ChrX:154030727 [GRCh38]
ChrX:153296178 [GRCh37]
ChrX:Xq28
benign
NM_001110792.2(MECP2):c.1452G>C (p.Glu484Asp) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV002195782] ChrX:154030412 [GRCh38]
ChrX:153295863 [GRCh37]
ChrX:Xq28
benign
NM_001110792.2(MECP2):c.872C>G (p.Ala291Gly) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV002117417] ChrX:154030992 [GRCh38]
ChrX:153296443 [GRCh37]
ChrX:Xq28
benign
NM_001110792.2(MECP2):c.62+11C>T single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV002076606] ChrX:154097593 [GRCh38]
ChrX:153363050 [GRCh37]
ChrX:Xq28
likely benign
NM_001110792.2(MECP2):c.435C>T (p.Arg145=) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV002172387] ChrX:154031429 [GRCh38]
ChrX:153296880 [GRCh37]
ChrX:Xq28
likely benign
NM_001110792.2(MECP2):c.96C>A (p.Gly32=) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV002079373] ChrX:154032524 [GRCh38]
ChrX:153297975 [GRCh37]
ChrX:Xq28
likely benign
NM_001110792.2(MECP2):c.413+13A>C single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV002215582] ChrX:154032194 [GRCh38]
ChrX:153297645 [GRCh37]
ChrX:Xq28
likely benign
NM_001110792.2(MECP2):c.1323C>T (p.Cys441=) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV002113151] ChrX:154030541 [GRCh38]
ChrX:153295992 [GRCh37]
ChrX:Xq28
likely benign
NM_001110792.2(MECP2):c.786C>G (p.Arg262=) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV002194538]|not specified [RCV003388103] ChrX:154031078 [GRCh38]
ChrX:153296529 [GRCh37]
ChrX:Xq28
likely benign
NM_001110792.2(MECP2):c.459C>T (p.Tyr153=) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV002201415] ChrX:154031405 [GRCh38]
ChrX:153296856 [GRCh37]
ChrX:Xq28
likely benign
NM_001110792.2(MECP2):c.984C>T (p.Val328=) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV002218281] ChrX:154030880 [GRCh38]
ChrX:153296331 [GRCh37]
ChrX:Xq28
likely benign
NM_001110792.2(MECP2):c.1362C>G (p.Thr454=) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV002197955] ChrX:154030502 [GRCh38]
ChrX:153295953 [GRCh37]
ChrX:Xq28
likely benign
NM_001110792.2(MECP2):c.997A>G (p.Lys333Glu) single nucleotide variant not specified [RCV002247969] ChrX:154030867 [GRCh38]
ChrX:153296318 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.414-18_414-15del deletion Severe neonatal-onset encephalopathy with microcephaly [RCV002123982] ChrX:154031465..154031468 [GRCh38]
ChrX:153296916..153296919 [GRCh37]
ChrX:Xq28
benign
NM_001110792.2(MECP2):c.600G>A (p.Arg200=) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV002163545] ChrX:154031264 [GRCh38]
ChrX:153296715 [GRCh37]
ChrX:Xq28
likely benign
NM_001110792.2(MECP2):c.484C>T (p.Leu162=) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV002216944] ChrX:154031380 [GRCh38]
ChrX:153296831 [GRCh37]
ChrX:Xq28
benign
NM_001110792.2(MECP2):c.279C>G (p.Pro93=) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV002155017] ChrX:154032341 [GRCh38]
ChrX:153297792 [GRCh37]
ChrX:Xq28
likely benign
NC_000023.10:g.(153296026_153296261)_(153298009_153357641)del deletion Rett syndrome [RCV002223044] ChrX:153296261..153298009 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.1055A>G (p.Lys352Arg) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV002160684] ChrX:154030809 [GRCh38]
ChrX:153296260 [GRCh37]
ChrX:Xq28
likely benign
NM_001110792.2(MECP2):c.62+10A>T single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV002154599] ChrX:154097594 [GRCh38]
ChrX:153363051 [GRCh37]
ChrX:Xq28
likely benign
NM_001110792.2(MECP2):c.1193_1204del (p.Leu398_Pro401del) deletion Severe neonatal-onset encephalopathy with microcephaly [RCV002099186] ChrX:154030660..154030671 [GRCh38]
ChrX:153296111..153296122 [GRCh37]
ChrX:Xq28
likely benign
NM_001110792.2(MECP2):c.1109C>T (p.Ala370Val) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV002118822] ChrX:154030755 [GRCh38]
ChrX:153296206 [GRCh37]
ChrX:Xq28
likely benign
NM_001110792.2(MECP2):c.531C>G (p.Pro177=) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV002203264] ChrX:154031333 [GRCh38]
ChrX:153296784 [GRCh37]
ChrX:Xq28
likely benign
NM_001110792.2(MECP2):c.114C>G (p.Leu38=) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV002181433] ChrX:154032506 [GRCh38]
ChrX:153297957 [GRCh37]
ChrX:Xq28
likely benign
NM_001110792.2(MECP2):c.1341G>A (p.Lys447=) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV002156770] ChrX:154030523 [GRCh38]
ChrX:153295974 [GRCh37]
ChrX:Xq28
likely benign
NM_001110792.2(MECP2):c.1156G>C (p.Glu386Gln) single nucleotide variant Inborn genetic diseases [RCV003089069]|Severe neonatal-onset encephalopathy with microcephaly [RCV002204014] ChrX:154030708 [GRCh38]
ChrX:153296159 [GRCh37]
ChrX:Xq28
benign|uncertain significance
NM_001110792.2(MECP2):c.63-8C>T single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV002155256] ChrX:154032565 [GRCh38]
ChrX:153298016 [GRCh37]
ChrX:Xq28
likely benign
NM_004992.4(MECP2):c.12G>C (p.Gly4=) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV002219976] ChrX:154092198 [GRCh38]
ChrX:153357656 [GRCh37]
ChrX:Xq28
likely benign
NM_001110792.2(MECP2):c.682A>G (p.Ser228Gly) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV002157216] ChrX:154031182 [GRCh38]
ChrX:153296633 [GRCh37]
ChrX:Xq28
benign
NC_000023.10:g.(?_153292262)_(153297628_?)del deletion Severe neonatal-onset encephalopathy with microcephaly [RCV003113630] ChrX:153292262..153297628 [GRCh37]
ChrX:Xq28
pathogenic
NC_000023.10:g.(?_153195397)_(153642547_?)dup duplication Severe neonatal-onset encephalopathy with microcephaly [RCV003113631] ChrX:153195397..153642547 [GRCh37]
ChrX:Xq28
pathogenic
NC_000023.10:g.(?_153295818)_(153298028_?)dup duplication Severe neonatal-onset encephalopathy with microcephaly [RCV003113632] ChrX:153295818..153298028 [GRCh37]
ChrX:Xq28
uncertain significance
NC_000023.10:g.(?_153279389)_(153296228_?)del deletion Severe neonatal-onset encephalopathy with microcephaly [RCV003113633] ChrX:153279389..153296228 [GRCh37]
ChrX:Xq28
pathogenic
NC_000023.10:g.(?_153285725)_(153296182_?)del deletion Severe neonatal-onset encephalopathy with microcephaly [RCV003113634] ChrX:153285725..153296182 [GRCh37]
ChrX:Xq28
pathogenic
NC_000023.10:g.(?_153292923)_(153296117_?)del deletion Severe neonatal-onset encephalopathy with microcephaly [RCV003113635] ChrX:153292923..153296117 [GRCh37]
ChrX:Xq28
pathogenic
NC_000023.10:g.(?_153295250)_(153296129_?)del deletion Severe neonatal-onset encephalopathy with microcephaly [RCV003113636] ChrX:153295250..153296129 [GRCh37]
ChrX:Xq28
pathogenic
NC_000023.10:g.(?_153296086)_(153297264_?)del deletion Severe neonatal-onset encephalopathy with microcephaly [RCV003113637] ChrX:153296086..153297264 [GRCh37]
ChrX:Xq28
pathogenic
NC_000023.10:g.(?_153295412)_(153306710_?)del deletion Severe neonatal-onset encephalopathy with microcephaly [RCV003113638] ChrX:153295412..153306710 [GRCh37]
ChrX:Xq28
pathogenic
NC_000023.10:g.(?_153296084)_(153338974_?)del deletion Severe neonatal-onset encephalopathy with microcephaly [RCV003113639] ChrX:153296084..153338974 [GRCh37]
ChrX:Xq28
pathogenic
NC_000023.10:g.(?_153296091)_(153303781_?)del deletion Severe neonatal-onset encephalopathy with microcephaly [RCV003113640] ChrX:153296091..153303781 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.273C>G (p.Ala91=) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV003117112] ChrX:154032347 [GRCh38]
ChrX:153297798 [GRCh37]
ChrX:Xq28
likely benign
NC_000023.10:g.(?_153296093)_(153303797_?)del deletion Severe neonatal-onset encephalopathy with microcephaly [RCV003116282] ChrX:153296093..153303797 [GRCh37]
ChrX:Xq28
pathogenic
NC_000023.10:g.(?_153296231)_(153303837_?)del deletion Severe neonatal-onset encephalopathy with microcephaly [RCV003116284] ChrX:153296231..153303837 [GRCh37]
ChrX:Xq28
pathogenic
NC_000023.10:g.(?_153296339)_(153306264_?)del deletion Severe neonatal-onset encephalopathy with microcephaly [RCV003116285] ChrX:153296339..153306264 [GRCh37]
ChrX:Xq28
pathogenic
NC_000023.10:g.(?_153357622)_(153664237_?)dup duplication X-linked Emery-Dreifuss muscular dystrophy [RCV003119323] ChrX:153357622..153664237 [GRCh37]
ChrX:Xq28
uncertain significance
NC_000023.10:g.(?_153001546)_(154563736_?)dup duplication Adrenoleukodystrophy [RCV003119108] ChrX:153001546..154563736 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.838C>A (p.Arg280=) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV003121722] ChrX:154031026 [GRCh38]
ChrX:153296477 [GRCh37]
ChrX:Xq28
likely benign
NM_001110792.2(MECP2):c.1451_1452dup (p.Glu485fs) microsatellite not provided [RCV003327954] ChrX:154030411..154030412 [GRCh38]
ChrX:153295862..153295863 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.1402G>T (p.Gly468Ter) single nucleotide variant Rett syndrome [RCV003152914] ChrX:154030462 [GRCh38]
ChrX:153295913 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_001110792.2(MECP2):c.1200_1249delinsCTGAGCACCCCCCAAGAAGGAGCACCACCACCATCACCACCACTCAGAGT (p.Pro401_Pro417delinsTer) indel Rett syndrome [RCV003153040] ChrX:154030615..154030664 [GRCh38]
ChrX:153296066..153296115 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_001110792.2(MECP2):c.1072A>C (p.Ser358Arg) single nucleotide variant Rett syndrome [RCV002226994] ChrX:154030792 [GRCh38]
ChrX:153296243 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_001110792.2(MECP2):c.337_1247del911 (p.Pro113fs) deletion Severe neonatal-onset encephalopathy with microcephaly [RCV002247744] ChrX:154030617..154032283 [GRCh38]
ChrX:153296068..153297734 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.803A>G (p.Lys268Arg) single nucleotide variant not specified [RCV002247970] ChrX:154031061 [GRCh38]
ChrX:153296512 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.946AAG[1] (p.Lys317del) microsatellite X-linked intellectual disability-psychosis-macroorchidism syndrome [RCV002250106] ChrX:154030913..154030915 [GRCh38]
ChrX:153296364..153296366 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.642del (p.Thr215fs) deletion X-linked intellectual disability-psychosis-macroorchidism syndrome [RCV002250107] ChrX:154031222 [GRCh38]
ChrX:153296673 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.618dup (p.Gly207fs) duplication X-linked intellectual disability-psychosis-macroorchidism syndrome [RCV002250109] ChrX:154031245..154031246 [GRCh38]
ChrX:153296696..153296697 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.572C>T (p.Pro191Leu) single nucleotide variant not provided [RCV003156470] ChrX:154031292 [GRCh38]
ChrX:153296743 [GRCh37]
ChrX:Xq28
uncertain significance
Single allele deletion Immunodeficiency 33 [RCV002247742]|Splenomegaly [RCV002247743] ChrX:153427468..156004919 [GRCh38]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.380G>A (p.Arg127His) single nucleotide variant not provided [RCV003235858] ChrX:154032240 [GRCh38]
ChrX:153297691 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:153295818-153298008) copy number loss Rett syndrome [RCV003236708] ChrX:153295818..153298008 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.1240_1241insT (p.Pro414fs) insertion MECP2-related condition [RCV003426373]|Neurodevelopmental delay [RCV002274432] ChrX:154030623..154030624 [GRCh38]
ChrX:153296074..153296075 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.1097_1098del (p.Arg366fs) microsatellite Neurodevelopmental delay [RCV002274433] ChrX:154030766..154030767 [GRCh38]
ChrX:153296217..153296218 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_001110792.2(MECP2):c.1193_1242del (p.Leu398fs) deletion Neurodevelopmental delay [RCV002274441] ChrX:154030622..154030671 [GRCh38]
ChrX:153296073..153296122 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_001110792.2(MECP2):c.1171_1199del (p.Pro391fs) deletion not provided [RCV002293237] ChrX:154030665..154030693 [GRCh38]
ChrX:153296116..153296144 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_001110792.2(MECP2):c.1195_1202del (p.Pro399fs) deletion Neurodevelopmental delay [RCV002274416] ChrX:154030662..154030669 [GRCh38]
ChrX:153296113..153296120 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq27.3-28(chrX:142401540-155233731)x1 copy number loss See cases [RCV002292203] ChrX:142401540..155233731 [GRCh37]
ChrX:Xq27.3-28
pathogenic
NM_001110792.2(MECP2):c.76G>A (p.Glu26Lys) single nucleotide variant not provided [RCV002274717] ChrX:154032544 [GRCh38]
ChrX:153297995 [GRCh37]
ChrX:Xq28
uncertain significance
NC_000023.10:g.(?_153287263)_(153298009_153357641)del deletion Rett syndrome [RCV003236543] ChrX:153287263..153298009 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.1412A>G (p.Lys471Arg) single nucleotide variant not provided [RCV002265363] ChrX:154030452 [GRCh38]
ChrX:153295903 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.1337C>G (p.Ala446Gly) single nucleotide variant not provided [RCV002267419] ChrX:154030527 [GRCh38]
ChrX:153295978 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.1218G>C (p.Glu406Asp) single nucleotide variant not provided [RCV002293236] ChrX:154030646 [GRCh38]
ChrX:153296097 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.1143_1234del (p.His382fs) deletion Rett syndrome [RCV002289199] ChrX:154030630..154030721 [GRCh38]
ChrX:153296081..153296172 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1 copy number loss See cases [RCV002286357] ChrX:11522765..155233731 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:61545-155226048)x2 copy number gain Klinefelter syndrome [RCV002282732] ChrX:61545..155226048 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001110792.2(MECP2):c.1197_1252del (p.Pro400fs) deletion Inborn genetic diseases [RCV002366399] ChrX:154030612..154030667 [GRCh38]
ChrX:153296063..153296118 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.806C>A (p.Ala269Asp) single nucleotide variant not provided [RCV002469464]|not specified [RCV002283402] ChrX:154031058 [GRCh38]
ChrX:153296509 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.1143_1192delinsCCCCCG (p.His382fs) indel Inborn genetic diseases [RCV002437188] ChrX:154030672..154030721 [GRCh38]
ChrX:153296123..153296172 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.1174_1191del (p.Val392_Pro397del) deletion not provided [RCV002285891] ChrX:154030673..154030690 [GRCh38]
ChrX:153296124..153296141 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq28(chrX:153282944-153681801)x3 copy number gain not provided [RCV002473744] ChrX:153282944..153681801 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq25-28(chrX:124749464-155233731)x1 copy number loss not provided [RCV002474567] ChrX:124749464..155233731 [GRCh37]
ChrX:Xq25-28
pathogenic
NM_001110792.2(MECP2):c.248C>T (p.Ala83Val) single nucleotide variant Inborn genetic diseases [RCV002859257]|not provided [RCV003135248] ChrX:154032372 [GRCh38]
ChrX:153297823 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.550C>G (p.Pro184Ala) single nucleotide variant Inborn genetic diseases [RCV002338247] ChrX:154031314 [GRCh38]
ChrX:153296765 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.1111T>G (p.Ser371Ala) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV002304427] ChrX:154030753 [GRCh38]
ChrX:153296204 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.275C>T (p.Ser92Phe) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV002304683]|not provided [RCV003438994] ChrX:154032345 [GRCh38]
ChrX:153297796 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.856A>G (p.Ser286Gly) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV002304909] ChrX:154031008 [GRCh38]
ChrX:153296459 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.484C>G (p.Leu162Val) single nucleotide variant not provided [RCV002306373] ChrX:154031380 [GRCh38]
ChrX:153296831 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.1222_1231del (p.Ser408fs) deletion Rett syndrome [RCV002306442] ChrX:154030633..154030642 [GRCh38]
ChrX:153296084..153296093 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.1195_1231delinsAG (p.Pro399fs) indel Rett syndrome [RCV002306443] ChrX:154030633..154030669 [GRCh38]
ChrX:153296084..153296120 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.1165_1264del (p.Lys389fs) deletion Inborn genetic diseases [RCV002325867] ChrX:154030600..154030699 [GRCh38]
ChrX:153296051..153296150 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.1095_1226delinsACTCTGAGTGGTGGTGATGGTGGT (p.Arg366_Glu409delinsLeuTer) indel Inborn genetic diseases [RCV002401497] ChrX:154030638..154030769 [GRCh38]
ChrX:153296089..153296220 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.26C>G (p.Pro9Arg) single nucleotide variant not provided [RCV002301001] ChrX:154097640 [GRCh38]
ChrX:153363097 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.580C>T (p.Pro194Ser) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV002294928]|X-linked intellectual disability-psychosis-macroorchidism syndrome [RCV002510602] ChrX:154031284 [GRCh38]
ChrX:153296735 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.978C>G (p.Ile326Met) single nucleotide variant Inborn genetic diseases [RCV002443416] ChrX:154030886 [GRCh38]
ChrX:153296337 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.1405G>A (p.Glu469Lys) single nucleotide variant Inborn genetic diseases [RCV002383653] ChrX:154030459 [GRCh38]
ChrX:153295910 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.787_889del (p.Pro263fs) deletion Inborn genetic diseases [RCV002393778] ChrX:154030975..154031077 [GRCh38]
ChrX:153296426..153296528 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_001110792.2(MECP2):c.9C>T (p.Ala3=) single nucleotide variant Inborn genetic diseases [RCV002383143]|not provided [RCV003439012] ChrX:154097657 [GRCh38]
ChrX:153363114 [GRCh37]
ChrX:Xq28
likely benign
NM_001110792.2(MECP2):c.1203_1231del (p.Pro402fs) deletion Inborn genetic diseases [RCV002333330] ChrX:154030633..154030661 [GRCh38]
ChrX:153296084..153296112 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.941_1168delinsGTACTTCTTGATGGGGC (p.Pro314_Ala390delinsArgThrSerTer) indel Inborn genetic diseases [RCV002378504] ChrX:154030696..154030923 [GRCh38]
ChrX:153296147..153296374 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_001110792.2(MECP2):c.268dup (p.Ser90fs) duplication Rett syndrome [RCV002306441] ChrX:154032351..154032352 [GRCh38]
ChrX:153297802..153297803 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.842dup (p.Arg282fs) duplication Severe neonatal-onset encephalopathy with microcephaly [RCV003013849] ChrX:154031021..154031022 [GRCh38]
ChrX:153296472..153296473 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.896C>A (p.Ala299Asp) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV003014134] ChrX:154030968 [GRCh38]
ChrX:153296419 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.1119C>A (p.Pro373=) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV002820035] ChrX:154030745 [GRCh38]
ChrX:153296196 [GRCh37]
ChrX:Xq28
likely benign
NM_001110792.2(MECP2):c.86_94del (p.Asp29_Gln31del) deletion Severe neonatal-onset encephalopathy with microcephaly [RCV003015066] ChrX:154032526..154032534 [GRCh38]
ChrX:153297977..153297985 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.1152_1155del (p.His384fs) deletion Syndromic X-linked intellectual disability Lubs type [RCV002463404] ChrX:154030709..154030712 [GRCh38]
ChrX:153296160..153296163 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_001110792.2(MECP2):c.814_829del (p.Asp272fs) deletion not provided [RCV002481159] ChrX:154031035..154031050 [GRCh38]
ChrX:153296486..153296501 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_001110792.2(MECP2):c.1133_1231del (p.His378_Asp410del) deletion Severe neonatal-onset encephalopathy with microcephaly [RCV002815663] ChrX:154030633..154030731 [GRCh38]
ChrX:153296084..153296182 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.1163_1233del (p.Pro388fs) deletion Severe neonatal-onset encephalopathy with microcephaly [RCV002819725] ChrX:154030631..154030701 [GRCh38]
ChrX:153296082..153296152 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.99C>T (p.Leu33=) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV002843718] ChrX:154032521 [GRCh38]
ChrX:153297972 [GRCh37]
ChrX:Xq28
likely benign
NM_001110792.2(MECP2):c.369G>A (p.Arg123=) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV003016395] ChrX:154032251 [GRCh38]
ChrX:153297702 [GRCh37]
ChrX:Xq28
likely benign
NM_001110792.2(MECP2):c.1242_1244del (p.Pro415del) deletion Severe neonatal-onset encephalopathy with microcephaly [RCV002843564] ChrX:154030620..154030622 [GRCh38]
ChrX:153296071..153296073 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.1140C>G (p.His380Gln) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV002995831] ChrX:154030724 [GRCh38]
ChrX:153296175 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.891G>C (p.Lys297Asn) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV003032367] ChrX:154030973 [GRCh38]
ChrX:153296424 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.1029G>C (p.Lys343Asn) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV003015843] ChrX:154030835 [GRCh38]
ChrX:153296286 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.1205C>T (p.Pro402Leu) single nucleotide variant Rett syndrome [RCV002510622] ChrX:154030659 [GRCh38]
ChrX:153296110 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.696C>G (p.Leu232=) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV002995758] ChrX:154031168 [GRCh38]
ChrX:153296619 [GRCh37]
ChrX:Xq28
likely benign
NM_001110792.2(MECP2):c.1331A>G (p.Glu444Gly) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV003015797] ChrX:154030533 [GRCh38]
ChrX:153295984 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.62+8G>A single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV002991458] ChrX:154097596 [GRCh38]
ChrX:153363053 [GRCh37]
ChrX:Xq28
likely benign
NM_001110792.2(MECP2):c.1190_1269del (p.Pro397fs) deletion Severe neonatal-onset encephalopathy with microcephaly [RCV002819274] ChrX:154030595..154030674 [GRCh38]
ChrX:153296046..153296125 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.1136_1215del (p.His379fs) deletion Severe neonatal-onset encephalopathy with microcephaly [RCV002837943] ChrX:154030649..154030728 [GRCh38]
ChrX:153296100..153296179 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.908dup (p.Ser304fs) duplication Inborn genetic diseases [RCV002732481] ChrX:154030955..154030956 [GRCh38]
ChrX:153296406..153296407 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.1122C>A (p.Pro374=) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV003073824] ChrX:154030742 [GRCh38]
ChrX:153296193 [GRCh37]
ChrX:Xq28
likely benign
NM_001110792.2(MECP2):c.510G>T (p.Thr170=) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV002843206] ChrX:154031354 [GRCh38]
ChrX:153296805 [GRCh37]
ChrX:Xq28
likely benign
NM_001110792.2(MECP2):c.782A>G (p.Lys261Arg) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV003033813] ChrX:154031082 [GRCh38]
ChrX:153296533 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.1254G>A (p.Gln418=) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV003002932] ChrX:154030610 [GRCh38]
ChrX:153296061 [GRCh37]
ChrX:Xq28
likely benign
NM_001110792.2(MECP2):c.1192_1202del (p.Leu398fs) deletion Severe neonatal-onset encephalopathy with microcephaly [RCV002889745] ChrX:154030662..154030672 [GRCh38]
ChrX:153296113..153296123 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.1196_1275del (p.Pro399fs) deletion Severe neonatal-onset encephalopathy with microcephaly [RCV003018989] ChrX:154030589..154030668 [GRCh38]
ChrX:153296040..153296119 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.1199_1204delinsTCAGGTATAT (p.Pro400fs) indel Severe neonatal-onset encephalopathy with microcephaly [RCV002871483] ChrX:154030660..154030665 [GRCh38]
ChrX:153296111..153296116 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.42A>C (p.Gly14=) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV002572166] ChrX:154097624 [GRCh38]
ChrX:153363081 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.438T>C (p.Ser146=) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV002825298] ChrX:154031426 [GRCh38]
ChrX:153296877 [GRCh37]
ChrX:Xq28
likely benign
NM_001110792.2(MECP2):c.1243C>T (p.Pro415Ser) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV003054128]|not provided [RCV003319534] ChrX:154030621 [GRCh38]
ChrX:153296072 [GRCh37]
ChrX:Xq28
likely benign|uncertain significance
NM_001110792.2(MECP2):c.515C>A (p.Thr172Asn) single nucleotide variant X-linked intellectual disability-psychosis-macroorchidism syndrome [RCV002795901] ChrX:154031349 [GRCh38]
ChrX:153296800 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.969G>C (p.Thr323=) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV002998845] ChrX:154030895 [GRCh38]
ChrX:153296346 [GRCh37]
ChrX:Xq28
likely benign
NM_001110792.2(MECP2):c.1377A>C (p.Ala459=) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV002889205] ChrX:154030487 [GRCh38]
ChrX:153295938 [GRCh37]
ChrX:Xq28
likely benign
NM_001110792.2(MECP2):c.837A>G (p.Lys279=) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV002760311] ChrX:154031027 [GRCh38]
ChrX:153296478 [GRCh37]
ChrX:Xq28
likely benign
NM_001110792.2(MECP2):c.1100G>A (p.Ser367Asn) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV002948425] ChrX:154030764 [GRCh38]
ChrX:153296215 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.1213_1226del (p.Pro405fs) deletion Severe neonatal-onset encephalopathy with microcephaly [RCV002868019] ChrX:154030638..154030651 [GRCh38]
ChrX:153296089..153296102 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.1167G>C (p.Lys389Asn) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV002695753] ChrX:154030697 [GRCh38]
ChrX:153296148 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.136G>T (p.Asp46Tyr) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV003020611] ChrX:154032484 [GRCh38]
ChrX:153297935 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.1222_1313del (p.Ser408fs) deletion Severe neonatal-onset encephalopathy with microcephaly [RCV002913408] ChrX:154030551..154030642 [GRCh38]
ChrX:153296002..153296093 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.1267_*76del (p.Val424fs) deletion Severe neonatal-onset encephalopathy with microcephaly [RCV002870897] ChrX:154030291..154030597 [GRCh38]
ChrX:153295742..153296048 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.1181_1201del (p.Leu394_Pro400del) deletion Severe neonatal-onset encephalopathy with microcephaly [RCV003055202] ChrX:154030663..154030683 [GRCh38]
ChrX:153296114..153296134 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.414-20C>T single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV002957810] ChrX:154031470 [GRCh38]
ChrX:153296921 [GRCh37]
ChrX:Xq28
likely benign
NM_001110792.2(MECP2):c.427G>C (p.Ala143Pro) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV002876235] ChrX:154031437 [GRCh38]
ChrX:153296888 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.414-18_414-17insA insertion Severe neonatal-onset encephalopathy with microcephaly [RCV002575027] ChrX:154031467..154031468 [GRCh38]
ChrX:153296918..153296919 [GRCh37]
ChrX:Xq28
likely benign
NM_001110792.2(MECP2):c.441A>C (p.Lys147Asn) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV002852039] ChrX:154031423 [GRCh38]
ChrX:153296874 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_001110792.2(MECP2):c.785_788dup (p.Gly264fs) duplication Severe neonatal-onset encephalopathy with microcephaly [RCV002851902] ChrX:154031075..154031076 [GRCh38]
ChrX:153296526..153296527 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.1078_1248delinsT (p.Glu360fs) indel Severe neonatal-onset encephalopathy with microcephaly [RCV003055826] ChrX:154030616..154030786 [GRCh38]
ChrX:153296067..153296237 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.491_1199delinsTGCGT (p.Pro164fs) indel Severe neonatal-onset encephalopathy with microcephaly [RCV002852605] ChrX:154030665..154031373 [GRCh38]
ChrX:153296116..153296824 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.1080G>C (p.Glu360Asp) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV002825728] ChrX:154030784 [GRCh38]
ChrX:153296235 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.1392C>A (p.His464Gln) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV002851411] ChrX:154030472 [GRCh38]
ChrX:153295923 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.1020C>G (p.Leu340=) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV002985623] ChrX:154030844 [GRCh38]
ChrX:153296295 [GRCh37]
ChrX:Xq28
benign
NM_001110792.2(MECP2):c.800G>C (p.Arg267Pro) single nucleotide variant Inborn genetic diseases [RCV002697774]|not provided [RCV003314754] ChrX:154031064 [GRCh38]
ChrX:153296515 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.414-5C>T single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV003057035] ChrX:154031455 [GRCh38]
ChrX:153296906 [GRCh37]
ChrX:Xq28
benign
NM_001110792.2(MECP2):c.214G>A (p.Gly72Ser) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV003023622] ChrX:154032406 [GRCh38]
ChrX:153297857 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.490C>A (p.Pro164Thr) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV002894195] ChrX:154031374 [GRCh38]
ChrX:153296825 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_001110792.2(MECP2):c.414-16C>T single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV002601649] ChrX:154031466 [GRCh38]
ChrX:153296917 [GRCh37]
ChrX:Xq28
likely benign
NM_001110792.2(MECP2):c.509C>G (p.Thr170Arg) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV003048506] ChrX:154031355 [GRCh38]
ChrX:153296806 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_001110792.2(MECP2):c.139A>G (p.Lys47Glu) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV003063909] ChrX:154032481 [GRCh38]
ChrX:153297932 [GRCh37]
ChrX:Xq28
benign
NM_001110792.2(MECP2):c.1189_*1302delinsTCCCG (p.Pro397fs) indel Inborn genetic diseases [RCV002702369] ChrX:154029065..154030675 [GRCh38]
ChrX:153294516..153296126 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.37G>C (p.Gly13Arg) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV002876994] ChrX:154097629 [GRCh38]
ChrX:153363086 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.1423T>C (p.Ser475Pro) single nucleotide variant Inborn genetic diseases [RCV002670075] ChrX:154030441 [GRCh38]
ChrX:153295892 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.1192dup (p.Leu398fs) duplication Developmental disorder [RCV003126264]|Severe neonatal-onset encephalopathy with microcephaly [RCV003008535] ChrX:154030671..154030672 [GRCh38]
ChrX:153296122..153296123 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic
NM_001110792.2(MECP2):c.561G>A (p.Lys187=) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV002833230] ChrX:154031303 [GRCh38]
ChrX:153296754 [GRCh37]
ChrX:Xq28
likely benign
NM_001110792.2(MECP2):c.413+17C>T single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV002628140] ChrX:154032190 [GRCh38]
ChrX:153297641 [GRCh37]
ChrX:Xq28
likely benign
NM_001110792.2(MECP2):c.62+18G>A single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV002597715] ChrX:154097586 [GRCh38]
ChrX:153363043 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.748G>T (p.Gly250Trp) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV003030517] ChrX:154031116 [GRCh38]
ChrX:153296567 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.414-8C>A single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV003029994] ChrX:154031458 [GRCh38]
ChrX:153296909 [GRCh37]
ChrX:Xq28
likely benign
NM_001110792.2(MECP2):c.6C>T (p.Ala2=) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV002877485] ChrX:154097660 [GRCh38]
ChrX:153363117 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.15C>T (p.Ala5=) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV002937731] ChrX:154097651 [GRCh38]
ChrX:153363108 [GRCh37]
ChrX:Xq28
likely benign
NM_001110792.2(MECP2):c.934G>C (p.Val312Leu) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV002806882] ChrX:154030930 [GRCh38]
ChrX:153296381 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.589G>T (p.Gly197Cys) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV003027825] ChrX:154031275 [GRCh38]
ChrX:153296726 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.631C>A (p.Pro211Thr) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV002604799]|not specified [RCV003230754] ChrX:154031233 [GRCh38]
ChrX:153296684 [GRCh37]
ChrX:Xq28
likely benign|uncertain significance
NM_001110792.2(MECP2):c.413+15C>G single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV002676694] ChrX:154032192 [GRCh38]
ChrX:153297643 [GRCh37]
ChrX:Xq28
benign
NM_001110792.2(MECP2):c.413+20A>G single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV003032156] ChrX:154032187 [GRCh38]
ChrX:153297638 [GRCh37]
ChrX:Xq28
likely benign
NM_001110792.2(MECP2):c.795G>A (p.Arg265=) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV003068440] ChrX:154031069 [GRCh38]
ChrX:153296520 [GRCh37]
ChrX:Xq28
likely benign
NM_001110792.2(MECP2):c.634A>G (p.Lys212Glu) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV003066412] ChrX:154031230 [GRCh38]
ChrX:153296681 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.1075_1300delinsCCAAAGGCCCCCGTGCCACT (p.Lys359fs) indel Severe neonatal-onset encephalopathy with microcephaly [RCV002942926] ChrX:154030564..154030789 [GRCh38]
ChrX:153296015..153296240 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.932_936delinsGCCCGAGAG (p.Thr311fs) indel Rett syndrome [RCV003149124] ChrX:154030928..154030932 [GRCh38]
ChrX:153296379..153296383 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.654T>C (p.Gly218=) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV002607252] ChrX:154031210 [GRCh38]
ChrX:153296661 [GRCh37]
ChrX:Xq28
likely benign
NM_001110792.2(MECP2):c.562C>G (p.Pro188Ala) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV002586816] ChrX:154031302 [GRCh38]
ChrX:153296753 [GRCh37]
ChrX:Xq28
likely benign
NM_001110792.2(MECP2):c.824C>T (p.Ala275Val) single nucleotide variant Inborn genetic diseases [RCV002678637] ChrX:154031040 [GRCh38]
ChrX:153296491 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.1450GAG[3] (p.Glu485_Pro486insGlu) microsatellite not provided [RCV003132619] ChrX:154030408..154030409 [GRCh38]
ChrX:153295859..153295860 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.599G>A (p.Arg200Gln) single nucleotide variant not provided [RCV003132621] ChrX:154031265 [GRCh38]
ChrX:153296716 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.1199_1203delinsTC (p.Pro400_Pro401delinsLeu) indel not provided [RCV003132620] ChrX:154030661..154030665 [GRCh38]
ChrX:153296112..153296116 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.386C>G (p.Ala129Gly) single nucleotide variant Rett syndrome [RCV003155620] ChrX:154032234 [GRCh38]
ChrX:153297685 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_001110792.2(MECP2):c.63-3C>G single nucleotide variant not provided [RCV003131568] ChrX:154032560 [GRCh38]
ChrX:153298011 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.1382A>G (p.Lys461Arg) single nucleotide variant not provided [RCV003225380] ChrX:154030482 [GRCh38]
ChrX:153295933 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.1111_1214del (p.Ser371fs) deletion See cases [RCV003224930] ChrX:154030650..154030753 [GRCh38]
ChrX:153296101..153296204 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.849_850del (p.Lys283fs) deletion not provided [RCV003147197] ChrX:154031014..154031015 [GRCh38]
ChrX:153296465..153296466 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_001110792.2(MECP2):c.459C>A (p.Tyr153Ter) single nucleotide variant not provided [RCV003142803] ChrX:154031405 [GRCh38]
ChrX:153296856 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.818C>G (p.Pro273Arg) single nucleotide variant not provided [RCV003221504] ChrX:154031046 [GRCh38]
ChrX:153296497 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.818del (p.Pro273fs) deletion Rett syndrome [RCV003228791] ChrX:154031046 [GRCh38]
ChrX:153296497 [GRCh37]
ChrX:Xq28
likely pathogenic
NC_000023.11:g.154031853_154031854ins77278664_77280319 insertion Rett syndrome [RCV003225687] ChrX:154031853..154031854 [GRCh38]
ChrX:Xq28
likely pathogenic
NM_001110792.2(MECP2):c.578C>G (p.Ala193Gly) single nucleotide variant not provided [RCV003324958] ChrX:154031286 [GRCh38]
ChrX:153296737 [GRCh37]
ChrX:Xq28
uncertain significance
NC_000023.10:g.(?_153287263)_(153296026_153296261)del deletion Rett syndrome [RCV003324124] ChrX:153287263..153296026 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.395A>G (p.Tyr132Cys) single nucleotide variant not provided [RCV003322987] ChrX:154032225 [GRCh38]
ChrX:153297676 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:153247464-153522710)x3 copy number gain Chromosome Xq28 duplication syndrome [RCV003329535] ChrX:153247464..153522710 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:153217915-153618382)x2 copy number gain Syndromic X-linked intellectual disability Lubs type [RCV003329498] ChrX:153217915..153618382 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:153283692-153298113)x1 copy number loss Rett syndrome [RCV003329555] ChrX:153283692..153298113 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.1429T>C (p.Ser477Pro) single nucleotide variant Rett syndrome [RCV003340781] ChrX:154030435 [GRCh38]
ChrX:153295886 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.1130A>G (p.Glu377Gly) single nucleotide variant X-linked intellectual disability-psychosis-macroorchidism syndrome [RCV003338092] ChrX:154030734 [GRCh38]
ChrX:153296185 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.1453G>C (p.Glu485Gln) single nucleotide variant Rett syndrome [RCV003384310] ChrX:154030411 [GRCh38]
ChrX:153295862 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.1246G>A (p.Glu416Lys) single nucleotide variant Rett syndrome [RCV003384311] ChrX:154030618 [GRCh38]
ChrX:153296069 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.1485G>A (p.Glu495=) single nucleotide variant Rett syndrome [RCV003384312] ChrX:154030379 [GRCh38]
ChrX:153295830 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.1267_1355del (p.Ser423fs) deletion Rett syndrome [RCV003387563] ChrX:154030509..154030597 [GRCh38]
ChrX:153295960..153296048 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.1198_1205del (p.Pro400fs) deletion Rett syndrome [RCV003335783] ChrX:154030659..154030666 [GRCh38]
ChrX:153296110..153296117 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_001110792.2(MECP2):c.1189C>T (p.Pro397Ser) single nucleotide variant Inborn genetic diseases [RCV003376074] ChrX:154030675 [GRCh38]
ChrX:153296126 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.479C>G (p.Thr160Arg) single nucleotide variant Inborn genetic diseases [RCV003373966] ChrX:154031385 [GRCh38]
ChrX:153296836 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.1197_1235delinsTGAG (p.Pro400fs) indel Rett syndrome [RCV003445420] ChrX:154030629..154030667 [GRCh38]
ChrX:153296080..153296118 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.488A>T (p.Asp163Val) single nucleotide variant not provided [RCV003457630] ChrX:154031376 [GRCh38]
ChrX:153296827 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_001110792.2(MECP2):c.1184_1229del (p.Leu395fs) deletion Rett syndrome [RCV003484976] ChrX:154030635..154030680 [GRCh38]
ChrX:153296086..153296131 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.788C>G (p.Pro263Arg) single nucleotide variant Rett syndrome [RCV003484977] ChrX:154031076 [GRCh38]
ChrX:153296527 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.413A>T (p.Asn138Ile) single nucleotide variant Rett syndrome [RCV003484978] ChrX:154032207 [GRCh38]
ChrX:153297658 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_001110792.2(MECP2):c.950A>C (p.Lys317Thr) single nucleotide variant Rett syndrome [RCV003484979] ChrX:154030914 [GRCh38]
ChrX:153296365 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_001110792.2(MECP2):c.647C>A (p.Ser216Ter) single nucleotide variant Rett syndrome [RCV003484980] ChrX:154031217 [GRCh38]
ChrX:153296668 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.1016C>T (p.Thr339Ile) single nucleotide variant not provided [RCV003457629] ChrX:154030848 [GRCh38]
ChrX:153296299 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq28(chrX:152707335-153624154)x2 copy number gain not provided [RCV003483984] ChrX:152707335..153624154 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq24-28(chrX:119071609-155233731)x1 copy number loss not provided [RCV003483930] ChrX:119071609..155233731 [GRCh37]
ChrX:Xq24-28
pathogenic
NM_001110792.2(MECP2):c.806C>T (p.Ala269Val) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV003875254] ChrX:154031058 [GRCh38]
ChrX:153296509 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.440A>C (p.Lys147Thr) single nucleotide variant not provided [RCV003482042] ChrX:154031424 [GRCh38]
ChrX:153296875 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_001110792.2(MECP2):c.414-65C>G single nucleotide variant Rett syndrome [RCV003389419] ChrX:154031515 [GRCh38]
ChrX:153296966 [GRCh37]
ChrX:Xq28
benign
GRCh37/hg19 Xq28(chrX:152941303-153549189)x2 copy number gain not provided [RCV003483987] ChrX:152941303..153549189 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:152916854-154775938)x2 copy number gain not provided [RCV003483986] ChrX:152916854..154775938 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq24-28(chrX:118576752-155233731)x1 copy number loss not provided [RCV003483929] ChrX:118576752..155233731 [GRCh37]
ChrX:Xq24-28
pathogenic
GRCh37/hg19 Xq28(chrX:148598351-154943978)x1 copy number loss not provided [RCV003483936] ChrX:148598351..154943978 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.1297G>C (p.Gly433Arg) single nucleotide variant MECP2-related condition [RCV003412304] ChrX:154030567 [GRCh38]
ChrX:153296018 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.811G>T (p.Ala271Ser) single nucleotide variant MECP2-related condition [RCV003397387] ChrX:154031053 [GRCh38]
ChrX:153296504 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.938del (p.Leu313fs) deletion MECP2-related condition [RCV003400319] ChrX:154030926 [GRCh38]
ChrX:153296377 [GRCh37]
ChrX:Xq28
pathogenic
NM_001110792.2(MECP2):c.715C>T (p.Gln239Ter) single nucleotide variant Rett syndrome [RCV003389417] ChrX:154031149 [GRCh38]
ChrX:153296600 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_001110792.2(MECP2):c.*156G>T single nucleotide variant Rett syndrome [RCV003389418] ChrX:154030211 [GRCh38]
ChrX:153295662 [GRCh37]
ChrX:Xq28
benign
NM_001110792.2(MECP2):c.346T>G (p.Trp116Gly) single nucleotide variant MECP2-related condition [RCV003406227] ChrX:154032274 [GRCh38]
ChrX:153297725 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.564del (p.Lys189fs) deletion Autism, susceptibility to, X-linked 3 [RCV003445325] ChrX:154031300 [GRCh38]
ChrX:153296751 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001110792.2(MECP2):c.*1109T>C single nucleotide variant not provided [RCV003440029] ChrX:154029258 [GRCh38]
ChrX:153294709 [GRCh37]
ChrX:Xq28
likely benign
NM_001110792.2(MECP2):c.*772G>A single nucleotide variant not provided [RCV003440030] ChrX:154029595 [GRCh38]
ChrX:153295046 [GRCh37]
ChrX:Xq28
likely benign
NM_001110792.2(MECP2):c.747T>G (p.Gly249=) single nucleotide variant not provided [RCV003440031] ChrX:154031117 [GRCh38]
ChrX:153296568 [GRCh37]
ChrX:Xq28
likely benign
NM_001110792.2(MECP2):c.1145A>G (p.His382Arg) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV003824532] ChrX:154030719 [GRCh38]
ChrX:153296170 [GRCh37]
ChrX:Xq28
likely benign
NM_001110792.2(MECP2):c.717A>C (p.Gln239His) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV003876349] ChrX:154031147 [GRCh38]
ChrX:153296598 [GRCh37]
ChrX:Xq28
likely benign
NM_001110792.2(MECP2):c.812C>G (p.Ala271Gly) single nucleotide variant Severe neonatal-onset encephalopathy with microcephaly [RCV003878471] ChrX:154031052 [GRCh38]
ChrX:153296503 [GRCh37]
ChrX:Xq28
likely benign
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR212hsa-miR-212-3pMirtarbaseexternal_infoImmunohistochemistry//Luciferase reporter assay//MFunctional MTI20020497
MIR212hsa-miR-212-3pTarbaseexternal_infoReporter GenePOSITIVE
MIR212hsa-miR-212-3pTarbaseexternal_infoMicroarrayPOSITIVE
MIR212hsa-miR-212-3pTarbaseexternal_infoOtherPOSITIVE
MIR212hsa-miR-212-3pOncomiRDBexternal_infoNANA20020497
MIR19Ahsa-miR-19a-3pMirtarbaseexternal_infoLuciferase reporter assay//Reporter assay;MicroarrFunctional MTI14697198
MIR19Ahsa-miR-19a-3pMirtarbaseexternal_infoReporter assay;OtherNon-Functional MTI18460397
MIR19Ahsa-miR-19a-3pTarbaseexternal_infoReporter GeneNEGATIVE
MIR802hsa-miR-802Mirtarbaseexternal_infoImmunohistochemistry//Luciferase reporter assay//qFunctional MTI19897480
MIR802hsa-miR-802Mirtarbaseexternal_infoLuciferase reporter assay//qRT-PCR//MicroarrayFunctional MTI20388499
MIR802hsa-miR-802Mirecordsexternal_info{changed}NA19897480
MIR124-2hsa-miR-124-3pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI23318130
MIR155hsa-miR-155-3pMirecordsexternal_info{changed}NA19897480
MIR155hsa-miR-155-5pMirtarbaseexternal_infoLuciferase reporter assay//qRT-PCR//MicroarrayFunctional MTI20388499
MIR155hsa-miR-155-5pMirtarbaseexternal_infoImmunohistochemistry//Luciferase reporter assay//qFunctional MTI19897480

Predicted Target Of
Summary Value
Count of predictions:12118
Count of miRNA genes:1608
Interacting mature miRNAs:2303
Transcripts:ENST00000303391, ENST00000369957, ENST00000407218, ENST00000415944, ENST00000453960, ENST00000460227, ENST00000463644, ENST00000481807, ENST00000486506, ENST00000488293, ENST00000496908
Prediction methods:Microtar, Miranda, Pita, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
DXS8103  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X150,115,164 - 150,115,403UniSTSGRCh37
GRCh37933,801,401 - 33,802,059UniSTSGRCh37
Build 36X149,865,822 - 149,866,061RGDNCBI36
CeleraX150,363,060 - 150,363,299RGD
Celera933,733,252 - 33,733,910UniSTS
Cytogenetic MapXq21.33-q23UniSTS
HuRefX138,975,519 - 138,975,760UniSTS
Marshfield Genetic MapX100.73UniSTS
Marshfield Genetic MapX100.73RGD
Genethon Genetic MapX192.5UniSTS
deCODE Assembly MapX178.77UniSTS
Whitehead-YAC Contig MapX UniSTS
RH80797  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,277,071 - 153,277,314UniSTSGRCh37
Build 36X152,930,265 - 152,930,508RGDNCBI36
CeleraX153,510,776 - 153,511,019RGD
Cytogenetic MapXq28UniSTS
HuRefX141,928,322 - 141,928,565UniSTS
GeneMap99-GB4 RH MapX352.59UniSTS
RH80656  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,290,289 - 153,290,388UniSTSGRCh37
Build 36X152,943,483 - 152,943,582RGDNCBI36
CeleraX153,523,994 - 153,524,093RGD
Cytogenetic MapXq28UniSTS
HuRefX141,941,082 - 141,941,181UniSTS
GeneMap99-GB4 RH MapX352.92UniSTS
DXS1012E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,293,331 - 153,293,448UniSTSGRCh37
Build 36X152,946,525 - 152,946,642RGDNCBI36
CeleraX153,527,036 - 153,527,153RGD
Cytogenetic MapXq28UniSTS
HuRefX141,944,124 - 141,944,241UniSTS
DXS7069  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,292,376 - 153,292,512UniSTSGRCh37
Build 36X152,945,570 - 152,945,706RGDNCBI36
CeleraX153,526,081 - 153,526,217RGD
Cytogenetic MapXq28UniSTS
HuRefX141,943,169 - 141,943,305UniSTS
HSC270_(M3)  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,311,330 - 153,311,540UniSTSGRCh37
Build 36X152,964,524 - 152,964,734RGDNCBI36
CeleraX153,545,015 - 153,545,223RGD
Cytogenetic MapXq28UniSTS
HuRefX141,962,066 - 141,962,275UniSTS
ECD00983  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,297,571 - 153,298,453UniSTSGRCh37
Build 36X152,950,765 - 152,951,647RGDNCBI36
CeleraX153,531,276 - 153,532,158RGD
Cytogenetic MapXq28UniSTS
HuRefX141,948,364 - 141,949,246UniSTS
ECD01063  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,288,316 - 153,289,195UniSTSGRCh37
Build 36X152,941,510 - 152,942,389RGDNCBI36
CeleraX153,522,021 - 153,522,900RGD
Cytogenetic MapXq28UniSTS
HuRefX141,939,109 - 141,939,988UniSTS
ECD01621  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,289,290 - 153,290,149UniSTSGRCh37
Build 36X152,942,484 - 152,943,343RGDNCBI36
CeleraX153,522,995 - 153,523,854RGD
Cytogenetic MapXq28UniSTS
HuRefX141,940,083 - 141,940,942UniSTS
ECD01974  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,287,414 - 153,288,260UniSTSGRCh37
Build 36X152,940,608 - 152,941,454RGDNCBI36
CeleraX153,521,119 - 153,521,965RGD
Cytogenetic MapXq28UniSTS
ECD02130  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,293,657 - 153,294,497UniSTSGRCh37
Build 36X152,946,851 - 152,947,691RGDNCBI36
CeleraX153,527,362 - 153,528,202RGD
Cytogenetic MapXq28UniSTS
HuRefX141,944,450 - 141,945,290UniSTS
ECD02190  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,363,362 - 153,364,200UniSTSGRCh37
Build 36X153,016,556 - 153,017,394RGDNCBI36
CeleraX153,597,042 - 153,597,880RGD
Cytogenetic MapXq28UniSTS
HuRefX142,013,398 - 142,014,236UniSTS
ECD02314  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,295,799 - 153,296,633UniSTSGRCh37
Build 36X152,948,993 - 152,949,827RGDNCBI36
CeleraX153,529,504 - 153,530,338RGD
Cytogenetic MapXq28UniSTS
HuRefX141,946,592 - 141,947,426UniSTS
ECD02454  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,296,643 - 153,297,472UniSTSGRCh37
Build 36X152,949,837 - 152,950,666RGDNCBI36
CeleraX153,530,348 - 153,531,177RGD
Cytogenetic MapXq28UniSTS
HuRefX141,947,436 - 141,948,265UniSTS
ECD02651  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,283,357 - 153,284,179UniSTSGRCh37
Build 36X152,936,551 - 152,937,373RGDNCBI36
CeleraX153,517,062 - 153,517,884RGD
Cytogenetic MapXq28UniSTS
HuRefX141,934,604 - 141,935,426UniSTS
ECD03207  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,291,951 - 153,292,753UniSTSGRCh37
Build 36X152,945,145 - 152,945,947RGDNCBI36
CeleraX153,525,656 - 153,526,458RGD
Cytogenetic MapXq28UniSTS
HuRefX141,942,744 - 141,943,546UniSTS
ECD03233  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,291,101 - 153,291,902UniSTSGRCh37
Build 36X152,944,295 - 152,945,096RGDNCBI36
CeleraX153,524,806 - 153,525,607RGD
Cytogenetic MapXq28UniSTS
HuRefX141,941,894 - 141,942,695UniSTS
ECD03607  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,292,857 - 153,293,646UniSTSGRCh37
Build 36X152,946,051 - 152,946,840RGDNCBI36
CeleraX153,526,562 - 153,527,351RGD
Cytogenetic MapXq28UniSTS
HuRefX141,943,650 - 141,944,439UniSTS
ECD03779  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,361,038 - 153,361,822UniSTSGRCh37
Build 36X153,014,232 - 153,015,016RGDNCBI36
CeleraX153,594,718 - 153,595,502RGD
Cytogenetic MapXq28UniSTS
HuRefX142,010,985 - 142,011,769UniSTS
ECD04014  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,359,370 - 153,360,147UniSTSGRCh37
Build 36X153,012,564 - 153,013,341RGDNCBI36
CeleraX153,593,050 - 153,593,827RGD
Cytogenetic MapXq28UniSTS
HuRefX142,009,264 - 142,010,093UniSTS
ECD04118  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,290,287 - 153,291,061UniSTSGRCh37
Build 36X152,943,481 - 152,944,255RGDNCBI36
CeleraX153,523,992 - 153,524,766RGD
Cytogenetic MapXq28UniSTS
HuRefX141,941,080 - 141,941,854UniSTS
ECD04435  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,360,151 - 153,360,915UniSTSGRCh37
Build 36X153,013,345 - 153,014,109RGDNCBI36
CeleraX153,593,831 - 153,594,595RGD
Cytogenetic MapXq28UniSTS
HuRefX142,010,097 - 142,010,862UniSTS
ECD04686  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,356,062 - 153,356,819UniSTSGRCh37
Build 36X153,009,256 - 153,010,013RGDNCBI36
CeleraX153,589,742 - 153,590,499RGD
Cytogenetic MapXq28UniSTS
HuRefX142,005,956 - 142,006,713UniSTS
ECD06264  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,281,842 - 153,282,555UniSTSGRCh37
Build 36X152,935,036 - 152,935,749RGDNCBI36
CeleraX153,515,547 - 153,516,260RGD
Cytogenetic MapXq28UniSTS
HuRefX141,933,090 - 141,933,803UniSTS
ECD06970  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,361,860 - 153,362,554UniSTSGRCh37
Build 36X153,015,054 - 153,015,748RGDNCBI36
CeleraX153,595,540 - 153,596,234RGD
Cytogenetic MapXq28UniSTS
HuRefX142,011,807 - 142,012,501UniSTS
ECD07562  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,277,664 - 153,278,342UniSTSGRCh37
Build 36X152,930,858 - 152,931,536RGDNCBI36
CeleraX153,511,369 - 153,512,047RGD
Cytogenetic MapXq28UniSTS
HuRefX141,928,915 - 141,929,593UniSTS
ECD07751  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,278,393 - 153,279,066UniSTSGRCh37
Build 36X152,931,587 - 152,932,260RGDNCBI36
CeleraX153,512,098 - 153,512,771RGD
Cytogenetic MapXq28UniSTS
HuRefX141,929,644 - 141,930,317UniSTS
ECD08455  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,317,204 - 153,317,858UniSTSGRCh37
Build 36X152,970,398 - 152,971,052RGDNCBI36
CeleraX153,550,887 - 153,551,541RGD
Cytogenetic MapXq28UniSTS
HuRefX141,967,939 - 141,968,593UniSTS
ECD08607  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,279,150 - 153,279,800UniSTSGRCh37
Build 36X152,932,344 - 152,932,994RGDNCBI36
CeleraX153,512,855 - 153,513,505RGD
Cytogenetic MapXq28UniSTS
HuRefX141,930,401 - 141,931,051UniSTS
ECD08608  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,315,805 - 153,316,455UniSTSGRCh37
Build 36X152,968,999 - 152,969,649RGDNCBI36
CeleraX153,549,488 - 153,550,138RGD
Cytogenetic MapXq28UniSTS
HuRefX141,966,540 - 141,967,190UniSTS
ECD08773  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,316,490 - 153,317,136UniSTSGRCh37
Build 36X152,969,684 - 152,970,330RGDNCBI36
CeleraX153,550,173 - 153,550,819RGD
Cytogenetic MapXq28UniSTS
HuRefX141,967,225 - 141,967,871UniSTS
ECD09313  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,306,509 - 153,307,141UniSTSGRCh37
Build 36X152,959,703 - 152,960,335RGDNCBI36
CeleraX153,540,194 - 153,540,826RGD
Cytogenetic MapXq28UniSTS
HuRefX141,957,245 - 141,957,877UniSTS
ECD09352  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,307,235 - 153,307,866UniSTSGRCh37
Build 36X152,960,429 - 152,961,060RGDNCBI36
CeleraX153,540,920 - 153,541,551RGD
Cytogenetic MapXq28UniSTS
HuRefX141,957,971 - 141,958,602UniSTS
ECD09390  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,356,867 - 153,357,497UniSTSGRCh37
Build 36X153,010,061 - 153,010,691RGDNCBI36
CeleraX153,590,547 - 153,591,177RGD
Cytogenetic MapXq28UniSTS
HuRefX142,006,761 - 142,007,391UniSTS
ECD10348  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,357,585 - 153,358,189UniSTSGRCh37
Build 36X153,010,779 - 153,011,383RGDNCBI36
CeleraX153,591,265 - 153,591,869RGD
Cytogenetic MapXq28UniSTS
HuRefX142,007,479 - 142,008,084UniSTS
ECD11068  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,276,905 - 153,277,488UniSTSGRCh37
Build 36X152,930,099 - 152,930,682RGDNCBI36
CeleraX153,510,610 - 153,511,193RGD
Cytogenetic MapXq28UniSTS
HuRefX141,928,156 - 141,928,739UniSTS
ECD11312  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,310,400 - 153,310,976UniSTSGRCh37
Build 36X152,963,594 - 152,964,170RGDNCBI36
CeleraX153,544,085 - 153,544,661RGD
Cytogenetic MapXq28UniSTS
HuRefX141,961,136 - 141,961,712UniSTS
ECD11780  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,305,096 - 153,305,658UniSTSGRCh37
Build 36X152,958,290 - 152,958,852RGDNCBI36
CeleraX153,538,781 - 153,539,343RGD
Cytogenetic MapXq28UniSTS
HuRefX141,955,832 - 141,956,394UniSTS
ECD12173  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,281,070 - 153,281,621UniSTSGRCh37
Build 36X152,934,264 - 152,934,815RGDNCBI36
CeleraX153,514,775 - 153,515,326RGD
Cytogenetic MapXq28UniSTS
HuRefX141,932,318 - 141,932,869UniSTS
ECD12235  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,309,828 - 153,310,377UniSTSGRCh37
Build 36X152,963,022 - 152,963,571RGDNCBI36
CeleraX153,543,513 - 153,544,062RGD
Cytogenetic MapXq28UniSTS
HuRefX141,960,564 - 141,961,113UniSTS
ECD13702  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,324,818 - 153,325,329UniSTSGRCh37
Build 36X152,978,012 - 152,978,523RGDNCBI36
CeleraX153,558,501 - 153,559,012RGD
Cytogenetic MapXq28UniSTS
HuRefX141,975,096 - 141,975,607UniSTS
ECD13735  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,324,231 - 153,324,741UniSTSGRCh37
Build 36X152,977,425 - 152,977,935RGDNCBI36
CeleraX153,557,914 - 153,558,424RGD
Cytogenetic MapXq28UniSTS
HuRefX141,974,509 - 141,975,019UniSTS
ECD14237  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,358,223 - 153,358,721UniSTSGRCh37
Build 36X153,011,417 - 153,011,915RGDNCBI36
CeleraX153,591,903 - 153,592,401RGD
Cytogenetic MapXq28UniSTS
HuRefX142,008,118 - 142,008,616UniSTS
ECD14271  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,325,378 - 153,325,875UniSTSGRCh37
Build 36X152,978,572 - 152,979,069RGDNCBI36
CeleraX153,559,061 - 153,559,558RGD
Cytogenetic MapXq28UniSTS
HuRefX141,975,656 - 141,976,153UniSTS
ECD14457  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,311,416 - 153,311,909UniSTSGRCh37
Build 36X152,964,610 - 152,965,103RGDNCBI36
CeleraX153,545,099 - 153,545,592RGD
Cytogenetic MapXq28UniSTS
HuRefX141,962,151 - 141,962,644UniSTS
ECD14500  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,323,688 - 153,324,180UniSTSGRCh37
Build 36X152,976,882 - 152,977,374RGDNCBI36
CeleraX153,557,371 - 153,557,863RGD
Cytogenetic MapXq28UniSTS
HuRefX141,973,966 - 141,974,458UniSTS
ECD14554  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,294,645 - 153,295,136UniSTSGRCh37
Build 36X152,947,839 - 152,948,330RGDNCBI36
CeleraX153,528,350 - 153,528,841RGD
Cytogenetic MapXq28UniSTS
HuRefX141,945,438 - 141,945,929UniSTS
ECD14555  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,295,177 - 153,295,668UniSTSGRCh37
Build 36X152,948,371 - 152,948,862RGDNCBI36
CeleraX153,528,882 - 153,529,373RGD
Cytogenetic MapXq28UniSTS
HuRefX141,945,970 - 141,946,461UniSTS
ECD15192  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,299,186 - 153,299,662UniSTSGRCh37
Build 36X152,952,380 - 152,952,856RGDNCBI36
CeleraX153,532,891 - 153,533,367RGD
Cytogenetic MapXq28UniSTS
HuRefX141,949,979 - 141,950,455UniSTS
ECD15734  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,298,686 - 153,299,149UniSTSGRCh37
Build 36X152,951,880 - 152,952,343RGDNCBI36
CeleraX153,532,391 - 153,532,854RGD
Cytogenetic MapXq28UniSTS
HuRefX141,949,479 - 141,949,942UniSTS
ECD15779  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,304,316 - 153,304,778UniSTSGRCh37
Build 36X152,957,510 - 152,957,972RGDNCBI36
CeleraX153,538,001 - 153,538,463RGD
Cytogenetic MapXq28UniSTS
HuRefX141,955,051 - 141,955,514UniSTS
ECD15903  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,330,481 - 153,330,940UniSTSGRCh37
Build 36X152,983,675 - 152,984,134RGDNCBI36
CeleraX153,564,164 - 153,564,623RGD
Cytogenetic MapXq28UniSTS
HuRefX141,980,762 - 141,981,221UniSTS
ECD16720  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,350,158 - 153,350,586UniSTSGRCh37
Build 36X153,003,352 - 153,003,780RGDNCBI36
CeleraX153,583,838 - 153,584,266RGD
Cytogenetic MapXq28UniSTS
HuRefX142,000,224 - 142,000,652UniSTS
ECD17005  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,347,283 - 153,347,699UniSTSGRCh37
Build 36X153,000,477 - 153,000,893RGDNCBI36
CeleraX153,580,964 - 153,581,380RGD
Cytogenetic MapXq28UniSTS
HuRefX141,997,351 - 141,997,767UniSTS
ECD17149  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,348,570 - 153,348,981UniSTSGRCh37
Build 36X153,001,764 - 153,002,175RGDNCBI36
CeleraX153,582,251 - 153,582,662RGD
Cytogenetic MapXq28UniSTS
HuRefX141,998,637 - 141,999,048UniSTS
ECD17496  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,328,717 - 153,329,113UniSTSGRCh37
Build 36X152,981,911 - 152,982,307RGDNCBI36
CeleraX153,562,400 - 153,562,796RGD
Cytogenetic MapXq28UniSTS
HuRefX141,978,998 - 141,979,394UniSTS
ECD18424  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,300,018 - 153,300,378UniSTSGRCh37
Build 36X152,953,212 - 152,953,572RGDNCBI36
CeleraX153,533,723 - 153,534,083RGD
Cytogenetic MapXq28UniSTS
HuRefX141,950,811 - 141,951,171UniSTS
ECD18488  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,353,202 - 153,353,560UniSTSGRCh37
Build 36X153,006,396 - 153,006,754RGDNCBI36
CeleraX153,586,882 - 153,587,240RGD
Cytogenetic MapXq28UniSTS
HuRefX142,003,143 - 142,003,501UniSTS
ECD18640  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,322,120 - 153,322,472UniSTSGRCh37
Build 36X152,975,314 - 152,975,666RGDNCBI36
CeleraX153,555,803 - 153,556,155RGD
Cytogenetic MapXq28UniSTS
HuRefX141,972,398 - 141,972,750UniSTS
ECD18808  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,348,050 - 153,348,396UniSTSGRCh37
Build 36X153,001,244 - 153,001,590RGDNCBI36
CeleraX153,581,731 - 153,582,077RGD
Cytogenetic MapXq28UniSTS
HuRefX141,998,118 - 141,998,463UniSTS
ECD19024  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,329,931 - 153,330,268UniSTSGRCh37
Build 36X152,983,125 - 152,983,462RGDNCBI36
CeleraX153,563,614 - 153,563,951RGD
Cytogenetic MapXq28UniSTS
HuRefX141,980,212 - 141,980,549UniSTS
ECD19513  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,308,882 - 153,309,201UniSTSGRCh37
Build 36X152,962,076 - 152,962,395RGDNCBI36
CeleraX153,542,567 - 153,542,886RGD
Cytogenetic MapXq28UniSTS
HuRefX141,959,618 - 141,959,937UniSTS
ECD19622  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,340,555 - 153,340,870UniSTSGRCh37
Build 36X152,993,749 - 152,994,064RGDNCBI36
CeleraX153,574,237 - 153,574,552RGD
Cytogenetic MapXq28UniSTS
HuRefX141,990,828 - 141,991,143UniSTS
ECD20465  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,282,661 - 153,282,944UniSTSGRCh37
Build 36X152,935,855 - 152,936,138RGDNCBI36
CeleraX153,516,366 - 153,516,649RGD
Cytogenetic MapXq28UniSTS
HuRefX141,933,909 - 141,934,192UniSTS
ECD20486  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,280,634 - 153,280,916UniSTSGRCh37
Build 36X152,933,828 - 152,934,110RGDNCBI36
CeleraX153,514,339 - 153,514,621RGD
Cytogenetic MapXq28UniSTS
HuRefX141,931,882 - 141,932,164UniSTS
ECD20726  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,349,076 - 153,349,350UniSTSGRCh37
Build 36X153,002,270 - 153,002,544RGDNCBI36
CeleraX153,582,757 - 153,583,031RGD
Cytogenetic MapXq28UniSTS
HuRefX141,999,143 - 141,999,417UniSTS
ECD21309  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,353,644 - 153,353,897UniSTSGRCh37
Build 36X153,006,838 - 153,007,091RGDNCBI36
CeleraX153,587,324 - 153,587,577RGD
Cytogenetic MapXq28UniSTS
HuRefX142,003,585 - 142,003,838UniSTS
ECD21825  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,323,359 - 153,323,597UniSTSGRCh37
Build 36X152,976,553 - 152,976,791RGDNCBI36
CeleraX153,557,042 - 153,557,280RGD
Cytogenetic MapXq28UniSTS
HuRefX141,973,637 - 141,973,875UniSTS
ECD21978  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,322,726 - 153,322,959UniSTSGRCh37
Build 36X152,975,920 - 152,976,153RGDNCBI36
CeleraX153,556,409 - 153,556,642RGD
Cytogenetic MapXq28UniSTS
HuRefX141,973,004 - 141,973,237UniSTS
ECD22104  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,303,020 - 153,303,249UniSTSGRCh37
Build 36X152,956,214 - 152,956,443RGDNCBI36
CeleraX153,536,705 - 153,536,934RGD
Cytogenetic MapXq28UniSTS
ECD22728  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,342,559 - 153,342,769UniSTSGRCh37
Build 36X152,995,753 - 152,995,963RGDNCBI36
CeleraX153,576,241 - 153,576,451RGD
Cytogenetic MapXq28UniSTS
HuRefX141,992,832 - 141,993,042UniSTS
ECD23323  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,280,327 - 153,280,519UniSTSGRCh37
Build 36X152,933,521 - 152,933,713RGDNCBI36
CeleraX153,514,032 - 153,514,224RGD
Cytogenetic MapXq28UniSTS
HuRefX141,931,575 - 141,931,767UniSTS
ECD23885  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,303,581 - 153,303,752UniSTSGRCh37
Build 36X152,956,775 - 152,956,946RGDNCBI36
CeleraX153,537,266 - 153,537,437RGD
Cytogenetic MapXq28UniSTS
ECD23937  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,352,745 - 153,352,913UniSTSGRCh37
Build 36X153,005,939 - 153,006,107RGDNCBI36
CeleraX153,586,425 - 153,586,593RGD
Cytogenetic MapXq28UniSTS
HuRefX142,002,686 - 142,002,854UniSTS
ECD23977  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,314,057 - 153,314,223UniSTSGRCh37
Build 36X152,967,251 - 152,967,417RGDNCBI36
CeleraX153,547,740 - 153,547,906RGD
Cytogenetic MapXq28UniSTS
HuRefX141,964,792 - 141,964,958UniSTS
ECD24243  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,301,440 - 153,301,589UniSTSGRCh37
Build 36X152,954,634 - 152,954,783RGDNCBI36
CeleraX153,535,145 - 153,535,294RGD
Cytogenetic MapXq28UniSTS
HuRefX141,952,234 - 141,952,383UniSTS
RH45050  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,289,615 - 153,289,716UniSTSGRCh37
Build 36X152,942,809 - 152,942,910RGDNCBI36
CeleraX153,523,320 - 153,523,421RGD
Cytogenetic MapXq28UniSTS
HuRefX141,940,408 - 141,940,509UniSTS
GeneMap99-GB4 RH MapX350.95UniSTS
REN88514  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,276,625 - 153,276,862UniSTSGRCh37
Build 36X152,929,819 - 152,930,056RGDNCBI36
CeleraX153,510,330 - 153,510,567RGD
Cytogenetic MapXq28UniSTS
HuRefX141,927,876 - 141,928,113UniSTS
REN88515  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,276,839 - 153,277,092UniSTSGRCh37
Build 36X152,930,033 - 152,930,286RGDNCBI36
CeleraX153,510,544 - 153,510,797RGD
Cytogenetic MapXq28UniSTS
HuRefX141,928,090 - 141,928,343UniSTS
REN88516  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,277,068 - 153,277,325UniSTSGRCh37
Build 36X152,930,262 - 152,930,519RGDNCBI36
CeleraX153,510,773 - 153,511,030RGD
Cytogenetic MapXq28UniSTS
HuRefX141,928,319 - 141,928,576UniSTS
REN88517  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,277,305 - 153,277,549UniSTSGRCh37
Build 36X152,930,499 - 152,930,743RGDNCBI36
CeleraX153,511,010 - 153,511,254RGD
Cytogenetic MapXq28UniSTS
HuRefX141,928,556 - 141,928,800UniSTS
REN88518  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,277,472 - 153,277,713UniSTSGRCh37
Build 36X152,930,666 - 152,930,907RGDNCBI36
CeleraX153,511,177 - 153,511,418RGD
Cytogenetic MapXq28UniSTS
HuRefX141,928,723 - 141,928,964UniSTS
REN88520  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,277,914 - 153,278,166UniSTSGRCh37
Build 36X152,931,108 - 152,931,360RGDNCBI36
CeleraX153,511,619 - 153,511,871RGD
Cytogenetic MapXq28UniSTS
HuRefX141,929,165 - 141,929,417UniSTS
REN88521  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,278,146 - 153,278,413UniSTSGRCh37
Build 36X152,931,340 - 152,931,607RGDNCBI36
CeleraX153,511,851 - 153,512,118RGD
Cytogenetic MapXq28UniSTS
HuRefX141,929,397 - 141,929,664UniSTS
REN88522  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,278,373 - 153,278,616UniSTSGRCh37
Build 36X152,931,567 - 152,931,810RGDNCBI36
CeleraX153,512,078 - 153,512,321RGD
Cytogenetic MapXq28UniSTS
HuRefX141,929,624 - 141,929,867UniSTS
REN88523  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,278,535 - 153,278,794UniSTSGRCh37
Build 36X152,931,729 - 152,931,988RGDNCBI36
CeleraX153,512,240 - 153,512,499RGD
Cytogenetic MapXq28UniSTS
HuRefX141,929,786 - 141,930,045UniSTS
REN88524  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,278,771 - 153,279,016UniSTSGRCh37
Build 36X152,931,965 - 152,932,210RGDNCBI36
CeleraX153,512,476 - 153,512,721RGD
Cytogenetic MapXq28UniSTS
HuRefX141,930,022 - 141,930,267UniSTS
REN88525  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,278,986 - 153,279,235UniSTSGRCh37
Build 36X152,932,180 - 152,932,429RGDNCBI36
CeleraX153,512,691 - 153,512,940RGD
Cytogenetic MapXq28UniSTS
HuRefX141,930,237 - 141,930,486UniSTS
REN88526  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,279,192 - 153,279,437UniSTSGRCh37
Build 36X152,932,386 - 152,932,631RGDNCBI36
CeleraX153,512,897 - 153,513,142RGD
Cytogenetic MapXq28UniSTS
HuRefX141,930,443 - 141,930,688UniSTS
REN88527  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,279,415 - 153,279,685UniSTSGRCh37
Build 36X152,932,609 - 152,932,879RGDNCBI36
CeleraX153,513,120 - 153,513,390RGD
Cytogenetic MapXq28UniSTS
HuRefX141,930,666 - 141,930,936UniSTS
REN88528  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,279,665 - 153,279,901UniSTSGRCh37
Build 36X152,932,859 - 152,933,095RGDNCBI36
CeleraX153,513,370 - 153,513,606RGD
Cytogenetic MapXq28UniSTS
HuRefX141,930,916 - 141,931,149UniSTS
REN88530  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,280,121 - 153,280,371UniSTSGRCh37
Build 36X152,933,315 - 152,933,565RGDNCBI36
CeleraX153,513,826 - 153,514,076RGD
Cytogenetic MapXq28UniSTS
HuRefX141,931,369 - 141,931,619UniSTS
REN88531  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,280,342 - 153,280,583UniSTSGRCh37
Build 36X152,933,536 - 152,933,777RGDNCBI36
CeleraX153,514,047 - 153,514,288RGD
Cytogenetic MapXq28UniSTS
HuRefX141,931,590 - 141,931,831UniSTS
REN88532  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,280,556 - 153,280,815UniSTSGRCh37
Build 36X152,933,750 - 152,934,009RGDNCBI36
CeleraX153,514,261 - 153,514,520RGD
Cytogenetic MapXq28UniSTS
HuRefX141,931,804 - 141,932,063UniSTS
REN88533  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,280,795 - 153,281,032UniSTSGRCh37
Build 36X152,933,989 - 152,934,226RGDNCBI36
CeleraX153,514,500 - 153,514,737RGD
Cytogenetic MapXq28UniSTS
HuRefX141,932,043 - 141,932,280UniSTS
REN88534  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,281,003 - 153,281,228UniSTSGRCh37
Build 36X152,934,197 - 152,934,422RGDNCBI36
CeleraX153,514,708 - 153,514,933RGD
Cytogenetic MapXq28UniSTS
HuRefX141,932,251 - 141,932,476UniSTS
REN88535  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,281,187 - 153,281,420UniSTSGRCh37
Build 36X152,934,381 - 152,934,614RGDNCBI36
CeleraX153,514,892 - 153,515,125RGD
Cytogenetic MapXq28UniSTS
HuRefX141,932,435 - 141,932,668UniSTS
REN88536  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,281,401 - 153,281,662UniSTSGRCh37
Build 36X152,934,595 - 152,934,856RGDNCBI36
CeleraX153,515,106 - 153,515,367RGD
Cytogenetic MapXq28UniSTS
HuRefX141,932,649 - 141,932,910UniSTS
REN88537  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,281,639 - 153,281,863UniSTSGRCh37
Build 36X152,934,833 - 152,935,057RGDNCBI36
CeleraX153,515,344 - 153,515,568RGD
Cytogenetic MapXq28UniSTS
HuRefX141,932,887 - 141,933,111UniSTS
REN88538  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,281,842 - 153,282,114UniSTSGRCh37
Build 36X152,935,036 - 152,935,308RGDNCBI36
CeleraX153,515,547 - 153,515,819RGD
Cytogenetic MapXq28UniSTS
HuRefX141,933,090 - 141,933,362UniSTS
REN88539  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,282,092 - 153,282,342UniSTSGRCh37
Build 36X152,935,286 - 152,935,536RGDNCBI36
CeleraX153,515,797 - 153,516,047RGD
Cytogenetic MapXq28UniSTS
HuRefX141,933,340 - 141,933,590UniSTS
REN88540  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,282,321 - 153,282,593UniSTSGRCh37
Build 36X152,935,515 - 152,935,787RGDNCBI36
CeleraX153,516,026 - 153,516,298RGD
Cytogenetic MapXq28UniSTS
HuRefX141,933,569 - 141,933,841UniSTS
REN88541  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,282,568 - 153,282,808UniSTSGRCh37
Build 36X152,935,762 - 152,936,002RGDNCBI36
CeleraX153,516,273 - 153,516,513RGD
Cytogenetic MapXq28UniSTS
HuRefX141,933,816 - 141,934,056UniSTS
REN88542  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,282,739 - 153,282,967UniSTSGRCh37
Build 36X152,935,933 - 152,936,161RGDNCBI36
CeleraX153,516,444 - 153,516,672RGD
Cytogenetic MapXq28UniSTS
HuRefX141,933,987 - 141,934,215UniSTS
REN88543  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,283,313 - 153,283,537UniSTSGRCh37
Build 36X152,936,507 - 152,936,731RGDNCBI36
CeleraX153,517,018 - 153,517,242RGD
Cytogenetic MapXq28UniSTS
HuRefX141,934,560 - 141,934,784UniSTS
REN88544  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,283,532 - 153,283,783UniSTSGRCh37
Build 36X152,936,726 - 152,936,977RGDNCBI36
CeleraX153,517,237 - 153,517,488RGD
Cytogenetic MapXq28UniSTS
HuRefX141,934,779 - 141,935,030UniSTS
REN88545  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,283,772 - 153,284,010UniSTSGRCh37
Build 36X152,936,966 - 152,937,204RGDNCBI36
CeleraX153,517,477 - 153,517,715RGD
Cytogenetic MapXq28UniSTS
HuRefX141,935,019 - 141,935,257UniSTS
REN88546  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,283,987 - 153,284,231UniSTSGRCh37
Build 36X152,937,181 - 152,937,425RGDNCBI36
CeleraX153,517,692 - 153,517,936RGD
Cytogenetic MapXq28UniSTS
HuRefX141,935,234 - 141,935,478UniSTS
REN88558  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,286,934 - 153,287,182UniSTSGRCh37
Build 36X152,940,128 - 152,940,376RGDNCBI36
CeleraX153,520,639 - 153,520,887RGD
Cytogenetic MapXq28UniSTS
REN88559  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,287,177 - 153,287,438UniSTSGRCh37
Build 36X152,940,371 - 152,940,632RGDNCBI36
CeleraX153,520,882 - 153,521,143RGD
Cytogenetic MapXq28UniSTS
REN88560  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,287,427 - 153,287,654UniSTSGRCh37
Build 36X152,940,621 - 152,940,848RGDNCBI36
CeleraX153,521,132 - 153,521,359RGD
Cytogenetic MapXq28UniSTS
REN88561  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,287,624 - 153,287,895UniSTSGRCh37
Build 36X152,940,818 - 152,941,089RGDNCBI36
CeleraX153,521,329 - 153,521,600RGD
Cytogenetic MapXq28UniSTS
REN88562  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,287,888 - 153,288,112UniSTSGRCh37
Build 36X152,941,082 - 152,941,306RGDNCBI36
CeleraX153,521,593 - 153,521,817RGD
Cytogenetic MapXq28UniSTS
HuRefX141,938,681 - 141,938,905UniSTS
REN88563  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,288,078 - 153,288,327UniSTSGRCh37
Build 36X152,941,272 - 152,941,521RGDNCBI36
CeleraX153,521,783 - 153,522,032RGD
Cytogenetic MapXq28UniSTS
HuRefX141,938,871 - 141,939,120UniSTS
REN88564  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,288,321 - 153,288,550UniSTSGRCh37
Build 36X152,941,515 - 152,941,744RGDNCBI36
CeleraX153,522,026 - 153,522,255RGD
Cytogenetic MapXq28UniSTS
HuRefX141,939,114 - 141,939,343UniSTS
REN88565  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,288,522 - 153,288,768UniSTSGRCh37
Build 36X152,941,716 - 152,941,962RGDNCBI36
CeleraX153,522,227 - 153,522,473RGD
Cytogenetic MapXq28UniSTS
HuRefX141,939,315 - 141,939,561UniSTS
REN88566  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,288,752 - 153,289,011UniSTSGRCh37
Build 36X152,941,946 - 152,942,205RGDNCBI36
CeleraX153,522,457 - 153,522,716RGD
Cytogenetic MapXq28UniSTS
HuRefX141,939,545 - 141,939,804UniSTS
REN88567  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,288,986 - 153,289,233UniSTSGRCh37
Build 36X152,942,180 - 152,942,427RGDNCBI36
CeleraX153,522,691 - 153,522,938RGD
Cytogenetic MapXq28UniSTS
HuRefX141,939,779 - 141,940,026UniSTS
REN88568  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,289,214 - 153,289,461UniSTSGRCh37
Build 36X152,942,408 - 152,942,655RGDNCBI36
CeleraX153,522,919 - 153,523,166RGD
Cytogenetic MapXq28UniSTS
HuRefX141,940,007 - 141,940,254UniSTS
REN88569  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,289,439 - 153,289,686UniSTSGRCh37
Build 36X152,942,633 - 152,942,880RGDNCBI36
CeleraX153,523,144 - 153,523,391RGD
Cytogenetic MapXq28UniSTS
HuRefX141,940,232 - 141,940,479UniSTS
REN88570  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,289,654 - 153,289,904UniSTSGRCh37
Build 36X152,942,848 - 152,943,098RGDNCBI36
CeleraX153,523,359 - 153,523,609RGD
Cytogenetic MapXq28UniSTS
HuRefX141,940,447 - 141,940,697UniSTS
REN88571  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,289,886 - 153,290,132UniSTSGRCh37
Build 36X152,943,080 - 152,943,326RGDNCBI36
CeleraX153,523,591 - 153,523,837RGD
Cytogenetic MapXq28UniSTS
HuRefX141,940,679 - 141,940,925UniSTS
REN88572  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,290,095 - 153,290,322UniSTSGRCh37
Build 36X152,943,289 - 152,943,516RGDNCBI36
CeleraX153,523,800 - 153,524,027RGD
Cytogenetic MapXq28UniSTS
HuRefX141,940,888 - 141,941,115UniSTS
REN88573  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,290,290 - 153,290,523UniSTSGRCh37
Build 36X152,943,484 - 152,943,717RGDNCBI36
CeleraX153,523,995 - 153,524,228RGD
Cytogenetic MapXq28UniSTS
HuRefX141,941,083 - 141,941,316UniSTS
REN88574  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,290,512 - 153,290,778UniSTSGRCh37
Build 36X152,943,706 - 152,943,972RGDNCBI36
CeleraX153,524,217 - 153,524,483RGD
Cytogenetic MapXq28UniSTS
HuRefX141,941,305 - 141,941,571UniSTS
REN88575  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,290,758 - 153,290,999UniSTSGRCh37
Build 36X152,943,952 - 152,944,193RGDNCBI36
CeleraX153,524,463 - 153,524,704RGD
Cytogenetic MapXq28UniSTS
HuRefX141,941,551 - 141,941,792UniSTS
REN88576  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,290,976 - 153,291,226UniSTSGRCh37
Build 36X152,944,170 - 152,944,420RGDNCBI36
CeleraX153,524,681 - 153,524,931RGD
Cytogenetic MapXq28UniSTS
HuRefX141,941,769 - 141,942,019UniSTS
REN88577  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,291,204 - 153,291,451UniSTSGRCh37
Build 36X152,944,398 - 152,944,645RGDNCBI36
CeleraX153,524,909 - 153,525,156RGD
Cytogenetic MapXq28UniSTS
HuRefX141,941,997 - 141,942,244UniSTS
REN88578  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,291,419 - 153,291,665UniSTSGRCh37
Build 36X152,944,613 - 152,944,859RGDNCBI36
CeleraX153,525,124 - 153,525,370RGD
Cytogenetic MapXq28UniSTS
HuRefX141,942,212 - 141,942,458UniSTS
REN88579  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,291,595 - 153,291,851UniSTSGRCh37
Build 36X152,944,789 - 152,945,045RGDNCBI36
CeleraX153,525,300 - 153,525,556RGD
Cytogenetic MapXq28UniSTS
HuRefX141,942,388 - 141,942,644UniSTS
REN88580  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,291,828 - 153,292,064UniSTSGRCh37
Build 36X152,945,022 - 152,945,258RGDNCBI36
CeleraX153,525,533 - 153,525,769RGD
Cytogenetic MapXq28UniSTS
HuRefX141,942,621 - 141,942,857UniSTS
REN88581  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,292,051 - 153,292,297UniSTSGRCh37
Build 36X152,945,245 - 152,945,491RGDNCBI36
CeleraX153,525,756 - 153,526,002RGD
Cytogenetic MapXq28UniSTS
HuRefX141,942,844 - 141,943,090UniSTS
REN88582  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,292,275 - 153,292,545UniSTSGRCh37
Build 36X152,945,469 - 152,945,739RGDNCBI36
CeleraX153,525,980 - 153,526,250RGD
Cytogenetic MapXq28UniSTS
HuRefX141,943,068 - 141,943,338UniSTS
REN88583  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,292,521 - 153,292,779UniSTSGRCh37
Build 36X152,945,715 - 152,945,973RGDNCBI36
CeleraX153,526,226 - 153,526,484RGD
Cytogenetic MapXq28UniSTS
HuRefX141,943,314 - 141,943,572UniSTS
REN88584  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,292,748 - 153,292,990UniSTSGRCh37
Build 36X152,945,942 - 152,946,184RGDNCBI36
CeleraX153,526,453 - 153,526,695RGD
Cytogenetic MapXq28UniSTS
HuRefX141,943,541 - 141,943,783UniSTS
REN88585  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,292,968 - 153,293,220UniSTSGRCh37
Build 36X152,946,162 - 152,946,414RGDNCBI36
CeleraX153,526,673 - 153,526,925RGD
Cytogenetic MapXq28UniSTS
HuRefX141,943,761 - 141,944,013UniSTS
REN88586  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,293,212 - 153,293,467UniSTSGRCh37
Build 36X152,946,406 - 152,946,661RGDNCBI36
CeleraX153,526,917 - 153,527,172RGD
Cytogenetic MapXq28UniSTS
HuRefX141,944,005 - 141,944,260UniSTS
REN88587  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,293,440 - 153,293,697UniSTSGRCh37
Build 36X152,946,634 - 152,946,891RGDNCBI36
CeleraX153,527,145 - 153,527,402RGD
Cytogenetic MapXq28UniSTS
HuRefX141,944,233 - 141,944,490UniSTS
REN88588  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,293,691 - 153,293,946UniSTSGRCh37
Build 36X152,946,885 - 152,947,140RGDNCBI36
CeleraX153,527,396 - 153,527,651RGD
Cytogenetic MapXq28UniSTS
HuRefX141,944,484 - 141,944,739UniSTS
REN88589  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,293,923 - 153,294,173UniSTSGRCh37
Build 36X152,947,117 - 152,947,367RGDNCBI36
CeleraX153,527,628 - 153,527,878RGD
Cytogenetic MapXq28UniSTS
HuRefX141,944,716 - 141,944,966UniSTS
REN88590  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,294,155 - 153,294,390UniSTSGRCh37
Build 36X152,947,349 - 152,947,584RGDNCBI36
CeleraX153,527,860 - 153,528,095RGD
Cytogenetic MapXq28UniSTS
HuRefX141,944,948 - 141,945,183UniSTS
REN88591  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,294,355 - 153,294,609UniSTSGRCh37
Build 36X152,947,549 - 152,947,803RGDNCBI36
CeleraX153,528,060 - 153,528,314RGD
Cytogenetic MapXq28UniSTS
HuRefX141,945,148 - 141,945,402UniSTS
REN88592  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,294,597 - 153,294,832UniSTSGRCh37
Build 36X152,947,791 - 152,948,026RGDNCBI36
CeleraX153,528,302 - 153,528,537RGD
Cytogenetic MapXq28UniSTS
HuRefX141,945,390 - 141,945,625UniSTS
REN88593  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,294,795 - 153,295,045UniSTSGRCh37
Build 36X152,947,989 - 152,948,239RGDNCBI36
CeleraX153,528,500 - 153,528,750RGD
Cytogenetic MapXq28UniSTS
HuRefX141,945,588 - 141,945,838UniSTS
REN88594  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,295,015 - 153,295,265UniSTSGRCh37
Build 36X152,948,209 - 152,948,459RGDNCBI36
CeleraX153,528,720 - 153,528,970RGD
Cytogenetic MapXq28UniSTS
HuRefX141,945,808 - 141,946,058UniSTS
REN88595  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,295,221 - 153,295,468UniSTSGRCh37
Build 36X152,948,415 - 152,948,662RGDNCBI36
CeleraX153,528,926 - 153,529,173RGD
Cytogenetic MapXq28UniSTS
HuRefX141,946,014 - 141,946,261UniSTS
REN88596  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,295,440 - 153,295,686UniSTSGRCh37
Build 36X152,948,634 - 152,948,880RGDNCBI36
CeleraX153,529,145 - 153,529,391RGD
Cytogenetic MapXq28UniSTS
HuRefX141,946,233 - 141,946,479UniSTS
REN88597  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,295,661 - 153,295,905UniSTSGRCh37
Build 36X152,948,855 - 152,949,099RGDNCBI36
CeleraX153,529,366 - 153,529,610RGD
Cytogenetic MapXq28UniSTS
HuRefX141,946,454 - 141,946,698UniSTS
REN88598  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,295,848 - 153,296,072UniSTSGRCh37
Build 36X152,949,042 - 152,949,266RGDNCBI36
CeleraX153,529,553 - 153,529,777RGD
Cytogenetic MapXq28UniSTS
HuRefX141,946,641 - 141,946,865UniSTS
REN88599  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,296,025 - 153,296,282UniSTSGRCh37
Build 36X152,949,219 - 152,949,476RGDNCBI36
CeleraX153,529,730 - 153,529,987RGD
Cytogenetic MapXq28UniSTS
HuRefX141,946,818 - 141,947,075UniSTS
REN88600  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,296,272 - 153,296,523UniSTSGRCh37
Build 36X152,949,466 - 152,949,717RGDNCBI36
CeleraX153,529,977 - 153,530,228RGD
Cytogenetic MapXq28UniSTS
HuRefX141,947,065 - 141,947,316UniSTS
REN88601  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,296,504 - 153,296,761UniSTSGRCh37
Build 36X152,949,698 - 152,949,955RGDNCBI36
CeleraX153,530,209 - 153,530,466RGD
Cytogenetic MapXq28UniSTS
HuRefX141,947,297 - 141,947,554UniSTS
REN88602  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,296,753 - 153,297,008UniSTSGRCh37
Build 36X152,949,947 - 152,950,202RGDNCBI36
CeleraX153,530,458 - 153,530,713RGD
Cytogenetic MapXq28UniSTS
HuRefX141,947,546 - 141,947,801UniSTS
REN88603  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,297,004 - 153,297,255UniSTSGRCh37
Build 36X152,950,198 - 152,950,449RGDNCBI36
CeleraX153,530,709 - 153,530,960RGD
Cytogenetic MapXq28UniSTS
HuRefX141,947,797 - 141,948,048UniSTS
REN88604  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,297,238 - 153,297,491UniSTSGRCh37
Build 36X152,950,432 - 152,950,685RGDNCBI36
CeleraX153,530,943 - 153,531,196RGD
Cytogenetic MapXq28UniSTS
HuRefX141,948,031 - 141,948,284UniSTS
REN88605  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,297,472 - 153,297,718UniSTSGRCh37
Build 36X152,950,666 - 152,950,912RGDNCBI36
CeleraX153,531,177 - 153,531,423RGD
Cytogenetic MapXq28UniSTS
HuRefX141,948,265 - 141,948,511UniSTS
REN88606  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,297,695 - 153,297,932UniSTSGRCh37
Build 36X152,950,889 - 152,951,126RGDNCBI36
CeleraX153,531,400 - 153,531,637RGD
Cytogenetic MapXq28UniSTS
HuRefX141,948,488 - 141,948,725UniSTS
REN88607  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,297,905 - 153,298,159UniSTSGRCh37
Build 36X152,951,099 - 152,951,353RGDNCBI36
CeleraX153,531,610 - 153,531,864RGD
Cytogenetic MapXq28UniSTS
HuRefX141,948,698 - 141,948,952UniSTS
REN88608  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,298,138 - 153,298,384UniSTSGRCh37
Build 36X152,951,332 - 152,951,578RGDNCBI36
CeleraX153,531,843 - 153,532,089RGD
Cytogenetic MapXq28UniSTS
HuRefX141,948,931 - 141,949,177UniSTS
REN88609  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,298,355 - 153,298,603UniSTSGRCh37
Build 36X152,951,549 - 152,951,797RGDNCBI36
CeleraX153,532,060 - 153,532,308RGD
Cytogenetic MapXq28UniSTS
HuRefX141,949,148 - 141,949,396UniSTS
REN88610  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,298,574 - 153,298,822UniSTSGRCh37
Build 36X152,951,768 - 152,952,016RGDNCBI36
CeleraX153,532,279 - 153,532,527RGD
Cytogenetic MapXq28UniSTS
HuRefX141,949,367 - 141,949,615UniSTS
REN88611  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,298,807 - 153,299,049UniSTSGRCh37
Build 36X152,952,001 - 152,952,243RGDNCBI36
CeleraX153,532,512 - 153,532,754RGD
Cytogenetic MapXq28UniSTS
HuRefX141,949,600 - 141,949,842UniSTS
REN88612  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,299,022 - 153,299,285UniSTSGRCh37
Build 36X152,952,216 - 152,952,479RGDNCBI36
CeleraX153,532,727 - 153,532,990RGD
Cytogenetic MapXq28UniSTS
HuRefX141,949,815 - 141,950,078UniSTS
REN88613  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,299,262 - 153,299,506UniSTSGRCh37
Build 36X152,952,456 - 152,952,700RGDNCBI36
CeleraX153,532,967 - 153,533,211RGD
Cytogenetic MapXq28UniSTS
HuRefX141,950,055 - 141,950,299UniSTS
REN88614  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,299,455 - 153,299,683UniSTSGRCh37
Build 36X152,952,649 - 152,952,877RGDNCBI36
CeleraX153,533,160 - 153,533,388RGD
Cytogenetic MapXq28UniSTS
HuRefX141,950,248 - 141,950,476UniSTS
REN88615  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,299,530 - 153,299,763UniSTSGRCh37
Build 36X152,952,724 - 152,952,957RGDNCBI36
CeleraX153,533,235 - 153,533,468RGD
Cytogenetic MapXq28UniSTS
HuRefX141,950,323 - 141,950,556UniSTS
REN88616  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,299,742 - 153,300,004UniSTSGRCh37
Build 36X152,952,936 - 152,953,198RGDNCBI36
CeleraX153,533,447 - 153,533,709RGD
Cytogenetic MapXq28UniSTS
HuRefX141,950,535 - 141,950,797UniSTS
REN88617  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,299,981 - 153,300,212UniSTSGRCh37
Build 36X152,953,175 - 152,953,406RGDNCBI36
CeleraX153,533,686 - 153,533,917RGD
Cytogenetic MapXq28UniSTS
HuRefX141,950,774 - 141,951,005UniSTS
REN88618  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,300,172 - 153,300,427UniSTSGRCh37
Build 36X152,953,366 - 152,953,621RGDNCBI36
CeleraX153,533,877 - 153,534,132RGD
Cytogenetic MapXq28UniSTS
HuRefX141,950,965 - 141,951,220UniSTS
REN88619  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,300,426 - 153,300,651UniSTSGRCh37
Build 36X152,953,620 - 152,953,845RGDNCBI36
CeleraX153,534,131 - 153,534,356RGD
Cytogenetic MapXq28UniSTS
HuRefX141,951,219 - 141,951,444UniSTS
REN88620  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,300,634 - 153,300,884UniSTSGRCh37
Build 36X152,953,828 - 152,954,078RGDNCBI36
CeleraX153,534,339 - 153,534,589RGD
Cytogenetic MapXq28UniSTS
HuRefX141,951,427 - 141,951,677UniSTS
REN88621  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,300,827 - 153,301,095UniSTSGRCh37
Build 36X152,954,021 - 152,954,289RGDNCBI36
CeleraX153,534,532 - 153,534,800RGD
Cytogenetic MapXq28UniSTS
HuRefX141,951,620 - 141,951,889UniSTS
REN88622  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,300,910 - 153,301,147UniSTSGRCh37
Build 36X152,954,104 - 152,954,341RGDNCBI36
CeleraX153,534,615 - 153,534,852RGD
Cytogenetic MapXq28UniSTS
HuRefX141,951,703 - 141,951,941UniSTS
REN88623  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,301,403 - 153,301,651UniSTSGRCh37
Build 36X152,954,597 - 152,954,845RGDNCBI36
CeleraX153,535,108 - 153,535,356RGD
Cytogenetic MapXq28UniSTS
HuRefX141,952,197 - 141,952,445UniSTS
REN88624  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,301,543 - 153,301,815UniSTSGRCh37
Build 36X152,954,737 - 152,955,009RGDNCBI36
CeleraX153,535,248 - 153,535,520RGD
Cytogenetic MapXq28UniSTS
HuRefX141,952,337 - 141,952,609UniSTS
REN88625  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,301,786 - 153,302,015UniSTSGRCh37
Build 36X152,954,980 - 152,955,209RGDNCBI36
CeleraX153,535,491 - 153,535,720RGD
Cytogenetic MapXq28UniSTS
HuRefX141,952,580 - 141,952,809UniSTS
REN88626  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,302,042 - 153,302,299UniSTSGRCh37
Build 36X152,955,236 - 152,955,493RGDNCBI36
CeleraX153,535,747 - 153,536,004RGD
Cytogenetic MapXq28UniSTS
HuRefX141,952,836 - 141,953,093UniSTS
REN88627  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,302,554 - 153,302,792UniSTSGRCh37
Build 36X152,955,748 - 152,955,986RGDNCBI36
CeleraX153,536,259 - 153,536,477RGD
Cytogenetic MapXq28UniSTS
HuRefX141,953,348 - 141,953,566UniSTS
REN88628  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,302,784 - 153,303,037UniSTSGRCh37
Build 36X152,955,978 - 152,956,231RGDNCBI36
CeleraX153,536,469 - 153,536,722RGD
Cytogenetic MapXq28UniSTS
REN88629  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,303,034 - 153,303,297UniSTSGRCh37
Build 36X152,956,228 - 152,956,491RGDNCBI36
CeleraX153,536,719 - 153,536,982RGD
Cytogenetic MapXq28UniSTS
REN88630  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,303,282 - 153,303,526UniSTSGRCh37
Build 36X152,956,476 - 152,956,720RGDNCBI36
CeleraX153,536,967 - 153,537,211RGD
Cytogenetic MapXq28UniSTS
REN88631  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,303,504 - 153,303,752UniSTSGRCh37
Build 36X152,956,698 - 152,956,946RGDNCBI36
CeleraX153,537,189 - 153,537,437RGD
Cytogenetic MapXq28UniSTS
REN88632  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,304,091 - 153,304,339UniSTSGRCh37
Build 36X152,957,285 - 152,957,533RGDNCBI36
CeleraX153,537,776 - 153,538,024RGD
Cytogenetic MapXq28UniSTS
HuRefX141,954,826 - 141,955,074UniSTS
REN88633  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,304,311 - 153,304,543UniSTSGRCh37
Build 36X152,957,505 - 152,957,737RGDNCBI36
CeleraX153,537,996 - 153,538,228RGD
Cytogenetic MapXq28UniSTS
HuRefX141,955,046 - 141,955,278UniSTS
REN88634  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,304,524 - 153,304,783UniSTSGRCh37
Build 36X152,957,718 - 152,957,977RGDNCBI36
CeleraX153,538,209 - 153,538,468RGD
Cytogenetic MapXq28UniSTS
HuRefX141,955,259 - 141,955,519UniSTS
REN88635  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,304,730 - 153,304,974UniSTSGRCh37
Build 36X152,957,924 - 152,958,168RGDNCBI36
CeleraX153,538,415 - 153,538,659RGD
Cytogenetic MapXq28UniSTS
HuRefX141,955,466 - 141,955,710UniSTS
REN88636  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,304,911 - 153,305,185UniSTSGRCh37
Build 36X152,958,105 - 152,958,379RGDNCBI36
CeleraX153,538,596 - 153,538,870RGD
Cytogenetic MapXq28UniSTS
HuRefX141,955,647 - 141,955,921UniSTS
REN88637  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,305,161 - 153,305,424UniSTSGRCh37
Build 36X152,958,355 - 152,958,618RGDNCBI36
CeleraX153,538,846 - 153,539,109RGD
Cytogenetic MapXq28UniSTS
HuRefX141,955,897 - 141,956,160UniSTS
REN88638  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,305,402 - 153,305,635UniSTSGRCh37
Build 36X152,958,596 - 152,958,829RGDNCBI36
CeleraX153,539,087 - 153,539,320RGD
Cytogenetic MapXq28UniSTS
HuRefX141,956,138 - 141,956,371UniSTS
REN88639  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,305,596 - 153,305,841UniSTSGRCh37
Build 36X152,958,790 - 152,959,035RGDNCBI36
CeleraX153,539,281 - 153,539,526RGD
Cytogenetic MapXq28UniSTS
HuRefX141,956,332 - 141,956,577UniSTS
REN88640  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,305,818 - 153,306,060UniSTSGRCh37
Build 36X152,959,012 - 152,959,254RGDNCBI36
CeleraX153,539,503 - 153,539,745RGD
Cytogenetic MapXq28UniSTS
HuRefX141,956,554 - 141,956,796UniSTS
REN88641  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,306,037 - 153,306,269UniSTSGRCh37
Build 36X152,959,231 - 152,959,463RGDNCBI36
CeleraX153,539,722 - 153,539,954RGD
Cytogenetic MapXq28UniSTS
HuRefX141,956,773 - 141,957,005UniSTS
REN88642  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,306,156 - 153,306,415UniSTSGRCh37
Build 36X152,959,350 - 152,959,609RGDNCBI36
CeleraX153,539,841 - 153,540,100RGD
Cytogenetic MapXq28UniSTS
HuRefX141,956,892 - 141,957,151UniSTS
REN88643  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,306,284 - 153,306,532UniSTSGRCh37
Build 36X152,959,478 - 152,959,726RGDNCBI36
CeleraX153,539,969 - 153,540,217RGD
Cytogenetic MapXq28UniSTS
HuRefX141,957,020 - 141,957,268UniSTS
REN88644  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,306,524 - 153,306,768UniSTSGRCh37
Build 36X152,959,718 - 152,959,962RGDNCBI36
CeleraX153,540,209 - 153,540,453RGD
Cytogenetic MapXq28UniSTS
HuRefX141,957,260 - 141,957,504UniSTS
REN88645  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,306,681 - 153,306,951UniSTSGRCh37
Build 36X152,959,875 - 152,960,145RGDNCBI36
CeleraX153,540,366 - 153,540,636RGD
Cytogenetic MapXq28UniSTS
HuRefX141,957,417 - 141,957,687UniSTS
REN88646  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,306,918 - 153,307,182UniSTSGRCh37
Build 36X152,960,112 - 152,960,376RGDNCBI36
CeleraX153,540,603 - 153,540,867RGD
Cytogenetic MapXq28UniSTS
HuRefX141,957,654 - 141,957,918UniSTS
REN88647  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,307,159 - 153,307,408UniSTSGRCh37
Build 36X152,960,353 - 152,960,602RGDNCBI36
CeleraX153,540,844 - 153,541,093RGD
Cytogenetic MapXq28UniSTS
HuRefX141,957,895 - 141,958,144UniSTS
REN88648  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,307,407 - 153,307,631UniSTSGRCh37
Build 36X152,960,601 - 152,960,825RGDNCBI36
CeleraX153,541,092 - 153,541,316RGD
Cytogenetic MapXq28UniSTS
HuRefX141,958,143 - 141,958,367UniSTS
REN88649  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,307,604 - 153,307,853UniSTSGRCh37
Build 36X152,960,798 - 152,961,047RGDNCBI36
CeleraX153,541,289 - 153,541,538RGD
Cytogenetic MapXq28UniSTS
HuRefX141,958,340 - 141,958,589UniSTS
REN88650  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,307,739 - 153,307,989UniSTSGRCh37
Build 36X152,960,933 - 152,961,183RGDNCBI36
CeleraX153,541,424 - 153,541,674RGD
Cytogenetic MapXq28UniSTS
HuRefX141,958,475 - 141,958,725UniSTS
REN88651  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,307,929 - 153,308,161UniSTSGRCh37
Build 36X152,961,123 - 152,961,355RGDNCBI36
CeleraX153,541,614 - 153,541,846RGD
Cytogenetic MapXq28UniSTS
HuRefX141,958,665 - 141,958,897UniSTS
REN88652  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,308,129 - 153,308,371UniSTSGRCh37
Build 36X152,961,323 - 152,961,565RGDNCBI36
CeleraX153,541,814 - 153,542,056RGD
Cytogenetic MapXq28UniSTS
HuRefX141,958,865 - 141,959,107UniSTS
REN88653  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,308,310 - 153,308,559UniSTSGRCh37
Build 36X152,961,504 - 152,961,753RGDNCBI36
CeleraX153,541,995 - 153,542,244RGD
Cytogenetic MapXq28UniSTS
HuRefX141,959,046 - 141,959,295UniSTS
REN88654  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,308,532 - 153,308,763UniSTSGRCh37
Build 36X152,961,726 - 152,961,957RGDNCBI36
CeleraX153,542,217 - 153,542,448RGD
Cytogenetic MapXq28UniSTS
HuRefX141,959,268 - 141,959,499UniSTS
REN88655  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,308,732 - 153,308,987UniSTSGRCh37
Build 36X152,961,926 - 152,962,181RGDNCBI36
CeleraX153,542,417 - 153,542,672RGD
Cytogenetic MapXq28UniSTS
HuRefX141,959,468 - 141,959,723UniSTS
REN88656  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,308,954 - 153,309,202UniSTSGRCh37
Build 36X152,962,148 - 152,962,396RGDNCBI36
CeleraX153,542,639 - 153,542,887RGD
Cytogenetic MapXq28UniSTS
HuRefX141,959,690 - 141,959,938UniSTS
REN88657  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,309,185 - 153,309,448UniSTSGRCh37
Build 36X152,962,379 - 152,962,642RGDNCBI36
CeleraX153,542,870 - 153,543,133RGD
Cytogenetic MapXq28UniSTS
HuRefX141,959,921 - 141,960,184UniSTS
REN88658  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,309,443 - 153,309,694UniSTSGRCh37
Build 36X152,962,637 - 152,962,888RGDNCBI36
CeleraX153,543,128 - 153,543,379RGD
Cytogenetic MapXq28UniSTS
HuRefX141,960,179 - 141,960,430UniSTS
REN88659  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,309,638 - 153,309,884UniSTSGRCh37
Build 36X152,962,832 - 152,963,078RGDNCBI36
CeleraX153,543,323 - 153,543,569RGD
Cytogenetic MapXq28UniSTS
HuRefX141,960,374 - 141,960,620UniSTS
REN88660  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,309,875 - 153,310,121UniSTSGRCh37
Build 36X152,963,069 - 152,963,315RGDNCBI36
CeleraX153,543,560 - 153,543,806RGD
Cytogenetic MapXq28UniSTS
HuRefX141,960,611 - 141,960,857UniSTS
REN88661  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,310,093 - 153,310,351UniSTSGRCh37
Build 36X152,963,287 - 152,963,545RGDNCBI36
CeleraX153,543,778 - 153,544,036RGD
Cytogenetic MapXq28UniSTS
HuRefX141,960,829 - 141,961,087UniSTS
REN88662  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,310,328 - 153,310,573UniSTSGRCh37
Build 36X152,963,522 - 152,963,767RGDNCBI36
CeleraX153,544,013 - 153,544,258RGD
Cytogenetic MapXq28UniSTS
HuRefX141,961,064 - 141,961,309UniSTS
REN88663  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,310,550 - 153,310,781UniSTSGRCh37
Build 36X152,963,744 - 152,963,975RGDNCBI36
CeleraX153,544,235 - 153,544,466RGD
Cytogenetic MapXq28UniSTS
HuRefX141,961,286 - 141,961,517UniSTS
REN88664  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,310,751 - 153,310,979UniSTSGRCh37
Build 36X152,963,945 - 152,964,173RGDNCBI36
CeleraX153,544,436 - 153,544,664RGD
Cytogenetic MapXq28UniSTS
HuRefX141,961,487 - 141,961,715UniSTS
REN88665  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,310,873 - 153,311,136UniSTSGRCh37
Build 36X152,964,067 - 152,964,330RGDNCBI36
CeleraX153,544,558 - 153,544,821RGD
Cytogenetic MapXq28UniSTS
HuRefX141,961,609 - 141,961,872UniSTS
REN88666  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,311,290 - 153,311,515UniSTSGRCh37
Build 36X152,964,484 - 152,964,709RGDNCBI36
CeleraX153,544,975 - 153,545,198RGD
Cytogenetic MapXq28UniSTS
HuRefX141,962,026 - 141,962,250UniSTS
REN88667  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,311,496 - 153,311,749UniSTSGRCh37
Build 36X152,964,690 - 152,964,943RGDNCBI36
CeleraX153,545,179 - 153,545,432RGD
Cytogenetic MapXq28UniSTS
HuRefX141,962,231 - 141,962,484UniSTS
REN88668  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,311,727 - 153,311,986UniSTSGRCh37
Build 36X152,964,921 - 152,965,180RGDNCBI36
CeleraX153,545,410 - 153,545,669RGD
Cytogenetic MapXq28UniSTS
HuRefX141,962,462 - 141,962,721UniSTS
REN88669  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,311,950 - 153,312,198UniSTSGRCh37
Build 36X152,965,144 - 152,965,392RGDNCBI36
CeleraX153,545,633 - 153,545,881RGD
Cytogenetic MapXq28UniSTS
HuRefX141,962,685 - 141,962,933UniSTS
REN88670  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,312,152 - 153,312,404UniSTSGRCh37
Build 36X152,965,346 - 152,965,598RGDNCBI36
CeleraX153,545,835 - 153,546,087RGD
Cytogenetic MapXq28UniSTS
HuRefX141,962,887 - 141,963,139UniSTS
REN88671  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,312,392 - 153,312,638UniSTSGRCh37
Build 36X152,965,586 - 152,965,832RGDNCBI36
CeleraX153,546,075 - 153,546,321RGD
Cytogenetic MapXq28UniSTS
HuRefX141,963,127 - 141,963,373UniSTS
REN88672  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,312,632 - 153,312,893UniSTSGRCh37
Build 36X152,965,826 - 152,966,087RGDNCBI36
CeleraX153,546,315 - 153,546,576RGD
Cytogenetic MapXq28UniSTS
HuRefX141,963,367 - 141,963,628UniSTS
REN88673  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,312,872 - 153,313,121UniSTSGRCh37
Build 36X152,966,066 - 152,966,315RGDNCBI36
CeleraX153,546,555 - 153,546,804RGD
Cytogenetic MapXq28UniSTS
HuRefX141,963,607 - 141,963,856UniSTS
REN88674  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,313,084 - 153,313,334UniSTSGRCh37
Build 36X152,966,278 - 152,966,528RGDNCBI36
CeleraX153,546,767 - 153,547,017RGD
Cytogenetic MapXq28UniSTS
HuRefX141,963,819 - 141,964,069UniSTS
REN88675  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,313,244 - 153,313,505UniSTSGRCh37
Build 36X152,966,438 - 152,966,699RGDNCBI36
CeleraX153,546,927 - 153,547,188RGD
Cytogenetic MapXq28UniSTS
HuRefX141,963,979 - 141,964,240UniSTS
REN88676  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,313,490 - 153,313,720UniSTSGRCh37
Build 36X152,966,684 - 152,966,914RGDNCBI36
CeleraX153,547,173 - 153,547,403RGD
Cytogenetic MapXq28UniSTS
HuRefX141,964,225 - 141,964,455UniSTS
REN88677  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,313,701 - 153,313,953UniSTSGRCh37
Build 36X152,966,895 - 152,967,147RGDNCBI36
CeleraX153,547,384 - 153,547,636RGD
Cytogenetic MapXq28UniSTS
HuRefX141,964,436 - 141,964,688UniSTS
REN88678  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,313,947 - 153,314,215UniSTSGRCh37
Build 36X152,967,141 - 152,967,409RGDNCBI36
CeleraX153,547,630 - 153,547,898RGD
Cytogenetic MapXq28UniSTS
HuRefX141,964,682 - 141,964,950UniSTS
REN88679  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,314,195 - 153,314,440UniSTSGRCh37
Build 36X152,967,389 - 152,967,634RGDNCBI36
CeleraX153,547,878 - 153,548,123RGD
Cytogenetic MapXq28UniSTS
HuRefX141,964,930 - 141,965,175UniSTS
REN88680  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,314,417 - 153,314,671UniSTSGRCh37
Build 36X152,967,611 - 152,967,865RGDNCBI36
CeleraX153,548,100 - 153,548,354RGD
Cytogenetic MapXq28UniSTS
HuRefX141,965,152 - 141,965,406UniSTS
REN88681  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,314,668 - 153,314,928UniSTSGRCh37
Build 36X152,967,862 - 152,968,122RGDNCBI36
CeleraX153,548,351 - 153,548,611RGD
Cytogenetic MapXq28UniSTS
HuRefX141,965,403 - 141,965,663UniSTS
REN88682  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,314,926 - 153,315,185UniSTSGRCh37
Build 36X152,968,120 - 152,968,379RGDNCBI36
CeleraX153,548,609 - 153,548,868RGD
Cytogenetic MapXq28UniSTS
HuRefX141,965,661 - 141,965,920UniSTS
REN88683  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,315,163 - 153,315,407UniSTSGRCh37
Build 36X152,968,357 - 152,968,601RGDNCBI36
CeleraX153,548,846 - 153,549,090RGD
Cytogenetic MapXq28UniSTS
HuRefX141,965,898 - 141,966,142UniSTS
REN88684  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,315,392 - 153,315,663UniSTSGRCh37
Build 36X152,968,586 - 152,968,857RGDNCBI36
CeleraX153,549,075 - 153,549,346RGD
Cytogenetic MapXq28UniSTS
HuRefX141,966,127 - 141,966,398UniSTS
REN88685  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,315,661 - 153,315,890UniSTSGRCh37
Build 36X152,968,855 - 152,969,084RGDNCBI36
CeleraX153,549,344 - 153,549,573RGD
Cytogenetic MapXq28UniSTS
HuRefX141,966,396 - 141,966,625UniSTS
REN88686  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,315,859 - 153,316,095UniSTSGRCh37
Build 36X152,969,053 - 152,969,289RGDNCBI36
CeleraX153,549,542 - 153,549,778RGD
Cytogenetic MapXq28UniSTS
HuRefX141,966,594 - 141,966,830UniSTS
REN88687  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,316,058 - 153,316,313UniSTSGRCh37
Build 36X152,969,252 - 152,969,507RGDNCBI36
CeleraX153,549,741 - 153,549,996RGD
Cytogenetic MapXq28UniSTS
HuRefX141,966,793 - 141,967,048UniSTS
REN88688  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,316,288 - 153,316,535UniSTSGRCh37
Build 36X152,969,482 - 152,969,729RGDNCBI36
CeleraX153,549,971 - 153,550,218RGD
Cytogenetic MapXq28UniSTS
HuRefX141,967,023 - 141,967,270UniSTS
REN88689  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,316,516 - 153,316,760UniSTSGRCh37
Build 36X152,969,710 - 152,969,954RGDNCBI36
CeleraX153,550,199 - 153,550,443RGD
Cytogenetic MapXq28UniSTS
HuRefX141,967,251 - 141,967,495UniSTS
REN88690  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,316,735 - 153,317,001UniSTSGRCh37
Build 36X152,969,929 - 152,970,195RGDNCBI36
CeleraX153,550,418 - 153,550,684RGD
Cytogenetic MapXq28UniSTS
HuRefX141,967,470 - 141,967,736UniSTS
REN88691  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,316,990 - 153,317,248UniSTSGRCh37
Build 36X152,970,184 - 152,970,442RGDNCBI36
CeleraX153,550,673 - 153,550,931RGD
Cytogenetic MapXq28UniSTS
HuRefX141,967,725 - 141,967,983UniSTS
REN88692  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,317,219 - 153,317,476UniSTSGRCh37
Build 36X152,970,413 - 152,970,670RGDNCBI36
CeleraX153,550,902 - 153,551,159RGD
Cytogenetic MapXq28UniSTS
HuRefX141,967,954 - 141,968,211UniSTS
REN88693  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,317,453 - 153,317,707UniSTSGRCh37
Build 36X152,970,647 - 152,970,901RGDNCBI36
CeleraX153,551,136 - 153,551,390RGD
Cytogenetic MapXq28UniSTS
HuRefX141,968,188 - 141,968,442UniSTS
REN88694  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,317,678 - 153,317,903UniSTSGRCh37
Build 36X152,970,872 - 152,971,097RGDNCBI36
CeleraX153,551,361 - 153,551,586RGD
Cytogenetic MapXq28UniSTS
HuRefX141,968,413 - 141,968,638UniSTS
REN88695  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,318,509 - 153,318,761UniSTSGRCh37
Build 36X152,971,703 - 152,971,955RGDNCBI36
CeleraX153,552,192 - 153,552,444RGD
Cytogenetic MapXq28UniSTS
HuRefX141,969,244 - 141,969,496UniSTS
REN88696  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,318,737 - 153,318,988UniSTSGRCh37
Build 36X152,971,931 - 152,972,182RGDNCBI36
CeleraX153,552,420 - 153,552,671RGD
Cytogenetic MapXq28UniSTS
HuRefX141,969,472 - 141,969,723UniSTS
REN88697  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,318,878 - 153,319,120UniSTSGRCh37
Build 36X152,972,072 - 152,972,314RGDNCBI36
CeleraX153,552,561 - 153,552,803RGD
Cytogenetic MapXq28UniSTS
HuRefX141,969,613 - 141,969,855UniSTS
REN88698  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,319,096 - 153,319,338UniSTSGRCh37
Build 36X152,972,290 - 152,972,532RGDNCBI36
CeleraX153,552,779 - 153,553,021RGD
Cytogenetic MapXq28UniSTS
HuRefX141,969,831 - 141,970,074UniSTS
REN88699  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,319,217 - 153,319,451UniSTSGRCh37
Build 36X152,972,411 - 152,972,645RGDNCBI36
CeleraX153,552,900 - 153,553,134RGD
Cytogenetic MapXq28UniSTS
HuRefX141,969,953 - 141,970,187UniSTS
REN88700  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,319,979 - 153,320,223UniSTSGRCh37
Build 36X152,973,173 - 152,973,417RGDNCBI36
CeleraX153,553,662 - 153,553,906RGD
Cytogenetic MapXq28UniSTS
HuRefX141,970,715 - 141,970,959UniSTS
REN88701  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,320,510 - 153,320,735UniSTSGRCh37
Build 36X152,973,704 - 152,973,929RGDNCBI36
CeleraX153,554,193 - 153,554,418RGD
Cytogenetic MapXq28UniSTS
REN88702  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,320,681 - 153,320,912UniSTSGRCh37
Build 36X152,973,875 - 152,974,106RGDNCBI36
CeleraX153,554,364 - 153,554,595RGD
Cytogenetic MapXq28UniSTS
REN88703  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,321,205 - 153,321,430UniSTSGRCh37
Build 36X152,974,399 - 152,974,624RGDNCBI36
CeleraX153,554,888 - 153,555,113RGD
Cytogenetic MapXq28UniSTS
REN88704  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,321,407 - 153,321,664UniSTSGRCh37
Build 36X152,974,601 - 152,974,858RGDNCBI36
CeleraX153,555,090 - 153,555,347RGD
Cytogenetic MapXq28UniSTS
HuRefX141,971,685 - 141,971,942UniSTS
REN88705  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,321,807 - 153,322,045UniSTSGRCh37
Build 36X152,975,001 - 152,975,239RGDNCBI36
CeleraX153,555,490 - 153,555,728RGD
Cytogenetic MapXq28UniSTS
HuRefX141,972,085 - 141,972,323UniSTS
REN88706  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,321,977 - 153,322,223UniSTSGRCh37
Build 36X152,975,171 - 152,975,417RGDNCBI36
CeleraX153,555,660 - 153,555,906RGD
Cytogenetic MapXq28UniSTS
HuRefX141,972,255 - 141,972,501UniSTS
REN88707  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,322,200 - 153,322,457UniSTSGRCh37
Build 36X152,975,394 - 152,975,651RGDNCBI36
CeleraX153,555,883 - 153,556,140RGD
Cytogenetic MapXq28UniSTS
HuRefX141,972,478 - 141,972,735UniSTS
REN88708  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,322,435 - 153,322,697UniSTSGRCh37
Build 36X152,975,629 - 152,975,891RGDNCBI36
CeleraX153,556,118 - 153,556,380RGD
Cytogenetic MapXq28UniSTS
HuRefX141,972,713 - 141,972,975UniSTS
REN88709  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,322,669 - 153,322,917UniSTSGRCh37
Build 36X152,975,863 - 152,976,111RGDNCBI36
CeleraX153,556,352 - 153,556,600RGD
Cytogenetic MapXq28UniSTS
HuRefX141,972,947 - 141,973,195UniSTS
REN88710  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,322,894 - 153,323,121UniSTSGRCh37
Build 36X152,976,088 - 152,976,315RGDNCBI36
CeleraX153,556,577 - 153,556,804RGD
Cytogenetic MapXq28UniSTS
HuRefX141,973,172 - 141,973,399UniSTS
REN88711  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,323,105 - 153,323,348UniSTSGRCh37
Build 36X152,976,299 - 152,976,542RGDNCBI36
CeleraX153,556,788 - 153,557,031RGD
Cytogenetic MapXq28UniSTS
HuRefX141,973,383 - 141,973,626UniSTS
REN88712  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,323,325 - 153,323,573UniSTSGRCh37
Build 36X152,976,519 - 152,976,767RGDNCBI36
CeleraX153,557,008 - 153,557,256RGD
Cytogenetic MapXq28UniSTS
HuRefX141,973,603 - 141,973,851UniSTS
REN88713  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,323,563 - 153,323,811UniSTSGRCh37
Build 36X152,976,757 - 152,977,005RGDNCBI36
CeleraX153,557,246 - 153,557,494RGD
Cytogenetic MapXq28UniSTS
HuRefX141,973,841 - 141,974,089UniSTS
REN88714  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,323,783 - 153,324,046UniSTSGRCh37
Build 36X152,976,977 - 152,977,240RGDNCBI36
CeleraX153,557,466 - 153,557,729RGD
Cytogenetic MapXq28UniSTS
HuRefX141,974,061 - 141,974,324UniSTS
REN88715  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,324,023 - 153,324,266UniSTSGRCh37
Build 36X152,977,217 - 152,977,460RGDNCBI36
CeleraX153,557,706 - 153,557,949RGD
Cytogenetic MapXq28UniSTS
HuRefX141,974,301 - 141,974,544UniSTS
REN88716  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,324,250 - 153,324,506UniSTSGRCh37
Build 36X152,977,444 - 152,977,700RGDNCBI36
CeleraX153,557,933 - 153,558,189RGD
Cytogenetic MapXq28UniSTS
HuRefX141,974,528 - 141,974,784UniSTS
REN88717  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,324,499 - 153,324,739UniSTSGRCh37
Build 36X152,977,693 - 152,977,933RGDNCBI36
CeleraX153,558,182 - 153,558,422RGD
Cytogenetic MapXq28UniSTS
HuRefX141,974,777 - 141,975,017UniSTS
REN88718  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,324,722 - 153,324,975UniSTSGRCh37
Build 36X152,977,916 - 152,978,169RGDNCBI36
CeleraX153,558,405 - 153,558,658RGD
Cytogenetic MapXq28UniSTS
HuRefX141,975,000 - 141,975,253UniSTS
REN88719  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,324,947 - 153,325,208UniSTSGRCh37
Build 36X152,978,141 - 152,978,402RGDNCBI36
CeleraX153,558,630 - 153,558,891RGD
Cytogenetic MapXq28UniSTS
HuRefX141,975,225 - 141,975,486UniSTS
REN88720  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,325,207 - 153,325,460UniSTSGRCh37
Build 36X152,978,401 - 152,978,654RGDNCBI36
CeleraX153,558,890 - 153,559,143RGD
Cytogenetic MapXq28UniSTS
HuRefX141,975,485 - 141,975,738UniSTS
REN88721  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,325,437 - 153,325,677UniSTSGRCh37
Build 36X152,978,631 - 152,978,871RGDNCBI36
CeleraX153,559,120 - 153,559,360RGD
Cytogenetic MapXq28UniSTS
HuRefX141,975,715 - 141,975,955UniSTS
REN88722  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,325,635 - 153,325,885UniSTSGRCh37
Build 36X152,978,829 - 152,979,079RGDNCBI36
CeleraX153,559,318 - 153,559,568RGD
Cytogenetic MapXq28UniSTS
HuRefX141,975,913 - 141,976,163UniSTS
REN88723  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,325,847 - 153,326,093UniSTSGRCh37
Build 36X152,979,041 - 152,979,287RGDNCBI36
CeleraX153,559,530 - 153,559,776RGD
Cytogenetic MapXq28UniSTS
HuRefX141,976,125 - 141,976,371UniSTS
REN88724  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,326,064 - 153,326,325UniSTSGRCh37
Build 36X152,979,258 - 152,979,519RGDNCBI36
CeleraX153,559,747 - 153,560,008RGD
Cytogenetic MapXq28UniSTS
HuRefX141,976,342 - 141,976,603UniSTS
REN88725  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,326,301 - 153,326,525UniSTSGRCh37
Build 36X152,979,495 - 152,979,719RGDNCBI36
CeleraX153,559,984 - 153,560,208RGD
Cytogenetic MapXq28UniSTS
HuRefX141,976,579 - 141,976,803UniSTS
REN88726  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,326,521 - 153,326,770UniSTSGRCh37
Build 36X152,979,715 - 152,979,964RGDNCBI36
CeleraX153,560,204 - 153,560,453RGD
Cytogenetic MapXq28UniSTS
HuRefX141,976,799 - 141,977,048UniSTS
REN88727  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,326,747 - 153,326,984UniSTSGRCh37
Build 36X152,979,941 - 152,980,178RGDNCBI36
CeleraX153,560,430 - 153,560,667RGD
Cytogenetic MapXq28UniSTS
HuRefX141,977,025 - 141,977,262UniSTS
REN88728  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,326,945 - 153,327,184UniSTSGRCh37
Build 36X152,980,139 - 152,980,378RGDNCBI36
CeleraX153,560,628 - 153,560,867RGD
Cytogenetic MapXq28UniSTS
HuRefX141,977,223 - 141,977,462UniSTS
REN88729  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,327,161 - 153,327,430UniSTSGRCh37
Build 36X152,980,355 - 152,980,624RGDNCBI36
CeleraX153,560,844 - 153,561,113RGD
Cytogenetic MapXq28UniSTS
HuRefX141,977,439 - 141,977,708UniSTS
REN88730  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,327,419 - 153,327,643UniSTSGRCh37
Build 36X152,980,613 - 152,980,837RGDNCBI36
CeleraX153,561,102 - 153,561,326RGD
Cytogenetic MapXq28UniSTS
HuRefX141,977,697 - 141,977,921UniSTS
REN88731  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,327,614 - 153,327,866UniSTSGRCh37
Build 36X152,980,808 - 152,981,060RGDNCBI36
CeleraX153,561,297 - 153,561,549RGD
Cytogenetic MapXq28UniSTS
HuRefX141,977,892 - 141,978,144UniSTS
REN88732  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,327,789 - 153,328,030UniSTSGRCh37
Build 36X152,980,983 - 152,981,224RGDNCBI36
CeleraX153,561,472 - 153,561,713RGD
Cytogenetic MapXq28UniSTS
HuRefX141,978,067 - 141,978,308UniSTS
REN88733  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,328,447 - 153,328,700UniSTSGRCh37
Build 36X152,981,641 - 152,981,894RGDNCBI36
CeleraX153,562,130 - 153,562,383RGD
Cytogenetic MapXq28UniSTS
HuRefX141,978,728 - 141,978,981UniSTS
REN88734  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,328,671 - 153,328,906UniSTSGRCh37
Build 36X152,981,865 - 152,982,100RGDNCBI36
CeleraX153,562,354 - 153,562,589RGD
Cytogenetic MapXq28UniSTS
HuRefX141,978,952 - 141,979,187UniSTS
REN88735  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,328,889 - 153,329,149UniSTSGRCh37
Build 36X152,982,083 - 152,982,343RGDNCBI36
CeleraX153,562,572 - 153,562,832RGD
Cytogenetic MapXq28UniSTS
HuRefX141,979,170 - 141,979,430UniSTS
REN88736  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,329,130 - 153,329,368UniSTSGRCh37
Build 36X152,982,324 - 152,982,562RGDNCBI36
CeleraX153,562,813 - 153,563,051RGD
Cytogenetic MapXq28UniSTS
HuRefX141,979,411 - 141,979,649UniSTS
REN88737  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,329,346 - 153,329,570UniSTSGRCh37
Build 36X152,982,540 - 152,982,764RGDNCBI36
CeleraX153,563,029 - 153,563,253RGD
Cytogenetic MapXq28UniSTS
HuRefX141,979,627 - 141,979,851UniSTS
REN88738  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,329,543 - 153,329,782UniSTSGRCh37
Build 36X152,982,737 - 152,982,976RGDNCBI36
CeleraX153,563,226 - 153,563,465RGD
Cytogenetic MapXq28UniSTS
HuRefX141,979,824 - 141,980,063UniSTS
REN88739  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,329,733 - 153,329,993UniSTSGRCh37
Build 36X152,982,927 - 152,983,187RGDNCBI36
CeleraX153,563,416 - 153,563,676RGD
Cytogenetic MapXq28UniSTS
HuRefX141,980,014 - 141,980,274UniSTS
REN88740  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,329,974 - 153,330,211UniSTSGRCh37
Build 36X152,983,168 - 152,983,405RGDNCBI36
CeleraX153,563,657 - 153,563,894RGD
Cytogenetic MapXq28UniSTS
HuRefX141,980,255 - 141,980,492UniSTS
REN88741  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,330,174 - 153,330,423UniSTSGRCh37
Build 36X152,983,368 - 152,983,617RGDNCBI36
CeleraX153,563,857 - 153,564,106RGD
Cytogenetic MapXq28UniSTS
HuRefX141,980,455 - 141,980,704UniSTS
REN88742  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,330,398 - 153,330,626UniSTSGRCh37
Build 36X152,983,592 - 152,983,820RGDNCBI36
CeleraX153,564,081 - 153,564,309RGD
Cytogenetic MapXq28UniSTS
HuRefX141,980,679 - 141,980,907UniSTS
REN88743  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,330,611 - 153,330,835UniSTSGRCh37
Build 36X152,983,805 - 152,984,029RGDNCBI36
CeleraX153,564,294 - 153,564,518RGD
Cytogenetic MapXq28UniSTS
HuRefX141,980,892 - 141,981,116UniSTS
REN88744  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,330,806 - 153,331,073UniSTSGRCh37
Build 36X152,984,000 - 152,984,267RGDNCBI36
CeleraX153,564,489 - 153,564,756RGD
Cytogenetic MapXq28UniSTS
HuRefX141,981,087 - 141,981,354UniSTS
REN88745  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,330,938 - 153,331,199UniSTSGRCh37
Build 36X152,984,132 - 152,984,393RGDNCBI36
CeleraX153,564,621 - 153,564,882RGD
Cytogenetic MapXq28UniSTS
HuRefX141,981,219 - 141,981,480UniSTS
REN88746  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,331,173 - 153,331,411UniSTSGRCh37
Build 36X152,984,367 - 152,984,605RGDNCBI36
CeleraX153,564,856 - 153,565,094RGD
Cytogenetic MapXq28UniSTS
HuRefX141,981,454 - 141,981,693UniSTS
REN88747  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,331,334 - 153,331,558UniSTSGRCh37
Build 36X152,984,528 - 152,984,752RGDNCBI36
CeleraX153,565,017 - 153,565,241RGD
Cytogenetic MapXq28UniSTS
REN88748  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,331,529 - 153,331,788UniSTSGRCh37
Build 36X152,984,723 - 152,984,982RGDNCBI36
CeleraX153,565,212 - 153,565,471RGD
Cytogenetic MapXq28UniSTS
REN88749  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,331,691 - 153,331,915UniSTSGRCh37
Build 36X152,984,885 - 152,985,109RGDNCBI36
CeleraX153,565,374 - 153,565,598RGD
Cytogenetic MapXq28UniSTS
HuRefX141,981,941 - 141,982,168UniSTS
REN88750  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,332,244 - 153,332,481UniSTSGRCh37
Build 36X152,985,438 - 152,985,675RGDNCBI36
CeleraX153,565,927 - 153,566,164RGD
Cytogenetic MapXq28UniSTS
HuRefX141,982,497 - 141,982,734UniSTS
REN88751  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,332,462 - 153,332,724UniSTSGRCh37
Build 36X152,985,656 - 152,985,918RGDNCBI36
CeleraX153,566,145 - 153,566,407RGD
Cytogenetic MapXq28UniSTS
HuRefX141,982,715 - 141,982,977UniSTS
REN88752  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,332,708 - 153,332,948UniSTSGRCh37
Build 36X152,985,902 - 152,986,142RGDNCBI36
CeleraX153,566,391 - 153,566,631RGD
Cytogenetic MapXq28UniSTS
HuRefX141,982,961 - 141,983,201UniSTS
REN88753  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,332,931 - 153,333,188UniSTSGRCh37
Build 36X152,986,125 - 152,986,382RGDNCBI36
CeleraX153,566,614 - 153,566,871RGD
Cytogenetic MapXq28UniSTS
HuRefX141,983,184 - 141,983,441UniSTS
REN88754  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,333,167 - 153,333,392UniSTSGRCh37
Build 36X152,986,361 - 152,986,586RGDNCBI36
CeleraX153,566,850 - 153,567,075RGD
Cytogenetic MapXq28UniSTS
HuRefX141,983,420 - 141,983,645UniSTS
REN88755  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,333,576 - 153,333,805UniSTSGRCh37
Build 36X152,986,770 - 152,986,999RGDNCBI36
CeleraX153,567,259 - 153,567,488RGD
Cytogenetic MapXq28UniSTS
REN88756  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,333,759 - 153,334,009UniSTSGRCh37
Build 36X152,986,953 - 152,987,203RGDNCBI36
CeleraX153,567,442 - 153,567,692RGD
Cytogenetic MapXq28UniSTS
REN88757  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,333,966 - 153,334,215UniSTSGRCh37
Build 36X152,987,160 - 152,987,409RGDNCBI36
CeleraX153,567,649 - 153,567,898RGD
Cytogenetic MapXq28UniSTS
HuRefX141,984,237 - 141,984,486UniSTS
REN88758  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,334,192 - 153,334,436UniSTSGRCh37
Build 36X152,987,386 - 152,987,630RGDNCBI36
CeleraX153,567,875 - 153,568,119RGD
Cytogenetic MapXq28UniSTS
HuRefX141,984,463 - 141,984,707UniSTS
REN88759  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,334,413 - 153,334,685UniSTSGRCh37
Build 36X152,987,607 - 152,987,879RGDNCBI36
CeleraX153,568,096 - 153,568,368RGD
Cytogenetic MapXq28UniSTS
HuRefX141,984,684 - 141,984,956UniSTS
REN88760  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,334,663 - 153,334,905UniSTSGRCh37
Build 36X152,987,857 - 152,988,099RGDNCBI36
CeleraX153,568,346 - 153,568,588RGD
Cytogenetic MapXq28UniSTS
HuRefX141,984,934 - 141,985,176UniSTS
REN88761  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,334,774 - 153,334,998UniSTSGRCh37
Build 36X152,987,968 - 152,988,192RGDNCBI36
CeleraX153,568,457 - 153,568,681RGD
Cytogenetic MapXq28UniSTS
HuRefX141,985,045 - 141,985,269UniSTS
REN88762  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,334,925 - 153,335,154UniSTSGRCh37
Build 36X152,988,119 - 152,988,348RGDNCBI36
CeleraX153,568,608 - 153,568,837RGD
Cytogenetic MapXq28UniSTS
HuRefX141,985,196 - 141,985,425UniSTS
REN88763  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,335,633 - 153,335,859UniSTSGRCh37
Build 36X152,988,827 - 152,989,053RGDNCBI36
CeleraX153,569,316 - 153,569,542RGD
Cytogenetic MapXq28UniSTS
HuRefX141,985,904 - 141,986,130UniSTS
REN88764  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,335,847 - 153,336,099UniSTSGRCh37
Build 36X152,989,041 - 152,989,293RGDNCBI36
CeleraX153,569,530 - 153,569,782RGD
Cytogenetic MapXq28UniSTS
HuRefX141,986,118 - 141,986,370UniSTS
REN88765  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,336,062 - 153,336,290UniSTSGRCh37
Build 36X152,989,256 - 152,989,484RGDNCBI36
CeleraX153,569,745 - 153,569,973RGD
Cytogenetic MapXq28UniSTS
HuRefX141,986,333 - 141,986,561UniSTS
REN88766  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,336,254 - 153,336,491UniSTSGRCh37
Build 36X152,989,448 - 152,989,685RGDNCBI36
CeleraX153,569,937 - 153,570,174RGD
Cytogenetic MapXq28UniSTS
HuRefX141,986,525 - 141,986,766UniSTS
REN88767  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,336,433 - 153,336,705UniSTSGRCh37
Build 36X152,989,627 - 152,989,899RGDNCBI36
CeleraX153,570,116 - 153,570,388RGD
Cytogenetic MapXq28UniSTS
HuRefX141,986,708 - 141,986,980UniSTS
REN88768  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,336,700 - 153,336,950UniSTSGRCh37
Build 36X152,989,894 - 152,990,144RGDNCBI36
CeleraX153,570,383 - 153,570,632RGD
Cytogenetic MapXq28UniSTS
HuRefX141,986,975 - 141,987,225UniSTS
REN88769  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,336,938 - 153,337,175UniSTSGRCh37
Build 36X152,990,132 - 152,990,369RGDNCBI36
CeleraX153,570,620 - 153,570,857RGD
Cytogenetic MapXq28UniSTS
HuRefX141,987,213 - 141,987,450UniSTS
REN88770  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,337,165 - 153,337,412UniSTSGRCh37
Build 36X152,990,359 - 152,990,606RGDNCBI36
CeleraX153,570,847 - 153,571,094RGD
Cytogenetic MapXq28UniSTS
HuRefX141,987,440 - 141,987,687UniSTS
REN88771  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,337,331 - 153,337,580UniSTSGRCh37
Build 36X152,990,525 - 152,990,774RGDNCBI36
CeleraX153,571,013 - 153,571,262RGD
Cytogenetic MapXq28UniSTS
HuRefX141,987,606 - 141,987,855UniSTS
REN88772  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,337,557 - 153,337,815UniSTSGRCh37
Build 36X152,990,751 - 152,991,009RGDNCBI36
CeleraX153,571,239 - 153,571,497RGD
Cytogenetic MapXq28UniSTS
HuRefX141,987,832 - 141,988,090UniSTS
REN88773  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,337,792 - 153,338,039UniSTSGRCh37
Build 36X152,990,986 - 152,991,233RGDNCBI36
CeleraX153,571,474 - 153,571,721RGD
Cytogenetic MapXq28UniSTS
HuRefX141,988,067 - 141,988,314UniSTS
REN88774  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,338,022 - 153,338,263UniSTSGRCh37
Build 36X152,991,216 - 152,991,457RGDNCBI36
CeleraX153,571,704 - 153,571,945RGD
Cytogenetic MapXq28UniSTS
HuRefX141,988,297 - 141,988,538UniSTS
REN88775  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,338,041 - 153,338,268UniSTSGRCh37
Build 36X152,991,235 - 152,991,462RGDNCBI36
CeleraX153,571,723 - 153,571,950RGD
Cytogenetic MapXq28UniSTS
HuRefX141,988,316 - 141,988,543UniSTS
REN88776  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,338,593 - 153,338,828UniSTSGRCh37
Build 36X152,991,787 - 152,992,022RGDNCBI36
CeleraX153,572,275 - 153,572,510RGD
Cytogenetic MapXq28UniSTS
HuRefX141,988,868 - 141,989,103UniSTS
REN88777  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,338,795 - 153,339,029UniSTSGRCh37
Build 36X152,991,989 - 152,992,223RGDNCBI36
CeleraX153,572,477 - 153,572,711RGD
Cytogenetic MapXq28UniSTS
HuRefX141,989,070 - 141,989,304UniSTS
REN88778  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,339,312 - 153,339,537UniSTSGRCh37
Build 36X152,992,506 - 152,992,731RGDNCBI36
CeleraX153,572,994 - 153,573,219RGD
Cytogenetic MapXq28UniSTS
HuRefX141,989,587 - 141,989,812UniSTS
REN88779  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,339,506 - 153,339,754UniSTSGRCh37
Build 36X152,992,700 - 152,992,948RGDNCBI36
CeleraX153,573,188 - 153,573,436RGD
Cytogenetic MapXq28UniSTS
HuRefX141,989,781 - 141,990,027UniSTS
REN88780  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,339,731 - 153,339,982UniSTSGRCh37
Build 36X152,992,925 - 152,993,176RGDNCBI36
CeleraX153,573,413 - 153,573,664RGD
Cytogenetic MapXq28UniSTS
HuRefX141,990,004 - 141,990,255UniSTS
REN88781  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,339,961 - 153,340,194UniSTSGRCh37
Build 36X152,993,155 - 152,993,388RGDNCBI36
CeleraX153,573,643 - 153,573,876RGD
Cytogenetic MapXq28UniSTS
HuRefX141,990,234 - 141,990,467UniSTS
REN88782  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,340,171 - 153,340,419UniSTSGRCh37
Build 36X152,993,365 - 152,993,613RGDNCBI36
CeleraX153,573,853 - 153,574,101RGD
Cytogenetic MapXq28UniSTS
HuRefX141,990,444 - 141,990,692UniSTS
REN88783  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,340,417 - 153,340,663UniSTSGRCh37
Build 36X152,993,611 - 152,993,857RGDNCBI36
CeleraX153,574,099 - 153,574,345RGD
Cytogenetic MapXq28UniSTS
HuRefX141,990,690 - 141,990,936UniSTS
REN88784  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,340,647 - 153,340,872UniSTSGRCh37
Build 36X152,993,841 - 152,994,066RGDNCBI36
CeleraX153,574,329 - 153,574,554RGD
Cytogenetic MapXq28UniSTS
HuRefX141,990,920 - 141,991,145UniSTS
REN88785  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,340,822 - 153,341,081UniSTSGRCh37
Build 36X152,994,016 - 152,994,275RGDNCBI36
CeleraX153,574,504 - 153,574,763RGD
Cytogenetic MapXq28UniSTS
HuRefX141,991,095 - 141,991,354UniSTS
REN88786  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,340,898 - 153,341,122UniSTSGRCh37
Build 36X152,994,092 - 152,994,316RGDNCBI36
CeleraX153,574,580 - 153,574,804RGD
Cytogenetic MapXq28UniSTS
HuRefX141,991,171 - 141,991,395UniSTS
REN88787  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,341,424 - 153,341,675UniSTSGRCh37
Build 36X152,994,618 - 152,994,869RGDNCBI36
CeleraX153,575,106 - 153,575,357RGD
Cytogenetic MapXq28UniSTS
HuRefX141,991,697 - 141,991,948UniSTS
REN88788  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,341,661 - 153,341,901UniSTSGRCh37
Build 36X152,994,855 - 152,995,095RGDNCBI36
CeleraX153,575,343 - 153,575,583RGD
Cytogenetic MapXq28UniSTS
HuRefX141,991,934 - 141,992,174UniSTS
REN88789  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,341,878 - 153,342,142UniSTSGRCh37
Build 36X152,995,072 - 152,995,336RGDNCBI36
CeleraX153,575,560 - 153,575,824RGD
Cytogenetic MapXq28UniSTS
HuRefX141,992,151 - 141,992,415UniSTS
REN88790  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,342,062 - 153,342,315UniSTSGRCh37
Build 36X152,995,256 - 152,995,509RGDNCBI36
CeleraX153,575,744 - 153,575,997RGD
Cytogenetic MapXq28UniSTS
HuRefX141,992,335 - 141,992,588UniSTS
REN88791  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,342,292 - 153,342,561UniSTSGRCh37
Build 36X152,995,486 - 152,995,755RGDNCBI36
CeleraX153,575,974 - 153,576,243RGD
Cytogenetic MapXq28UniSTS
HuRefX141,992,565 - 141,992,834UniSTS
REN88792  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,342,531 - 153,342,785UniSTSGRCh37
Build 36X152,995,725 - 152,995,979RGDNCBI36
CeleraX153,576,213 - 153,576,467RGD
Cytogenetic MapXq28UniSTS
HuRefX141,992,804 - 141,993,058UniSTS
REN88793  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,342,663 - 153,342,896UniSTSGRCh37
Build 36X152,995,857 - 152,996,090RGDNCBI36
CeleraX153,576,345 - 153,576,578RGD
Cytogenetic MapXq28UniSTS
HuRefX141,992,936 - 141,993,169UniSTS
REN88794  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,343,211 - 153,343,458UniSTSGRCh37
Build 36X152,996,405 - 152,996,652RGDNCBI36
CeleraX153,576,893 - 153,577,139RGD
Cytogenetic MapXq28UniSTS
HuRefX141,993,484 - 141,993,730UniSTS
REN88795  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,343,265 - 153,343,489UniSTSGRCh37
Build 36X152,996,459 - 152,996,683RGDNCBI36
CeleraX153,576,947 - 153,577,170RGD
Cytogenetic MapXq28UniSTS
HuRefX141,993,538 - 141,993,761UniSTS
REN88796  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,344,063 - 153,344,289UniSTSGRCh37
Build 36X152,997,257 - 152,997,483RGDNCBI36
CeleraX153,577,744 - 153,577,970RGD
Cytogenetic MapXq28UniSTS
REN88797  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,344,260 - 153,344,509UniSTSGRCh37
Build 36X152,997,454 - 152,997,703RGDNCBI36
CeleraX153,577,941 - 153,578,190RGD
Cytogenetic MapXq28UniSTS
REN88798  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,344,479 - 153,344,727UniSTSGRCh37
Build 36X152,997,673 - 152,997,921RGDNCBI36
CeleraX153,578,160 - 153,578,408RGD
Cytogenetic MapXq28UniSTS
REN88799  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,344,723 - 153,344,963UniSTSGRCh37
Build 36X152,997,917 - 152,998,157RGDNCBI36
CeleraX153,578,404 - 153,578,644RGD
Cytogenetic MapXq28UniSTS
REN88800  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,344,951 - 153,345,213UniSTSGRCh37
Build 36X152,998,145 - 152,998,407RGDNCBI36
CeleraX153,578,632 - 153,578,894RGD
Cytogenetic MapXq28UniSTS
REN88801  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,345,069 - 153,345,324UniSTSGRCh37
Build 36X152,998,263 - 152,998,518RGDNCBI36
CeleraX153,578,750 - 153,579,005RGD
Cytogenetic MapXq28UniSTS
REN88802  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,345,767 - 153,346,026UniSTSGRCh37
Build 36X152,998,961 - 152,999,220RGDNCBI36
CeleraX153,579,448 - 153,579,707RGD
Cytogenetic MapXq28UniSTS
HuRefX141,995,835 - 141,996,094UniSTS
REN88803  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,345,894 - 153,346,148UniSTSGRCh37
Build 36X152,999,088 - 152,999,342RGDNCBI36
CeleraX153,579,575 - 153,579,829RGD
Cytogenetic MapXq28UniSTS
HuRefX141,995,962 - 141,996,216UniSTS
REN88804  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,346,130 - 153,346,368UniSTSGRCh37
Build 36X152,999,324 - 152,999,562RGDNCBI36
CeleraX153,579,811 - 153,580,049RGD
Cytogenetic MapXq28UniSTS
HuRefX141,996,198 - 141,996,436UniSTS
REN88805  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,346,194 - 153,346,431UniSTSGRCh37
Build 36X152,999,388 - 152,999,625RGDNCBI36
CeleraX153,579,875 - 153,580,112RGD
Cytogenetic MapXq28UniSTS
HuRefX141,996,262 - 141,996,499UniSTS
REN88806  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,346,811 - 153,347,039UniSTSGRCh37
Build 36X153,000,005 - 153,000,233RGDNCBI36
CeleraX153,580,492 - 153,580,720RGD
Cytogenetic MapXq28UniSTS
HuRefX141,996,879 - 141,997,107UniSTS
REN88807  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,346,955 - 153,347,218UniSTSGRCh37
Build 36X153,000,149 - 153,000,412RGDNCBI36
CeleraX153,580,636 - 153,580,899RGD
Cytogenetic MapXq28UniSTS
HuRefX141,997,023 - 141,997,286UniSTS
REN88808  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,347,211 - 153,347,477UniSTSGRCh37
Build 36X153,000,405 - 153,000,671RGDNCBI36
CeleraX153,580,892 - 153,581,158RGD
Cytogenetic MapXq28UniSTS
HuRefX141,997,279 - 141,997,545UniSTS
REN88809  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,347,463 - 153,347,705UniSTSGRCh37
Build 36X153,000,657 - 153,000,899RGDNCBI36
CeleraX153,581,144 - 153,581,386RGD
Cytogenetic MapXq28UniSTS
HuRefX141,997,531 - 141,997,773UniSTS
REN88810  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,347,955 - 153,348,198UniSTSGRCh37
Build 36X153,001,149 - 153,001,392RGDNCBI36
CeleraX153,581,636 - 153,581,879RGD
Cytogenetic MapXq28UniSTS
HuRefX141,998,023 - 141,998,266UniSTS
REN88811  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,348,171 - 153,348,402UniSTSGRCh37
Build 36X153,001,365 - 153,001,596RGDNCBI36
CeleraX153,581,852 - 153,582,083RGD
Cytogenetic MapXq28UniSTS
HuRefX141,998,239 - 141,998,469UniSTS
REN88812  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,348,401 - 153,348,643UniSTSGRCh37
Build 36X153,001,595 - 153,001,837RGDNCBI36
CeleraX153,582,082 - 153,582,324RGD
Cytogenetic MapXq28UniSTS
HuRefX141,998,468 - 141,998,710UniSTS
REN88813  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,348,622 - 153,348,850UniSTSGRCh37
Build 36X153,001,816 - 153,002,044RGDNCBI36
CeleraX153,582,303 - 153,582,531RGD
Cytogenetic MapXq28UniSTS
HuRefX141,998,689 - 141,998,917UniSTS
REN88814  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,348,827 - 153,349,075UniSTSGRCh37
Build 36X153,002,021 - 153,002,269RGDNCBI36
CeleraX153,582,508 - 153,582,756RGD
Cytogenetic MapXq28UniSTS
HuRefX141,998,894 - 141,999,142UniSTS
REN88815  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,349,051 - 153,349,292UniSTSGRCh37
Build 36X153,002,245 - 153,002,486RGDNCBI36
CeleraX153,582,732 - 153,582,973RGD
Cytogenetic MapXq28UniSTS
HuRefX141,999,118 - 141,999,359UniSTS
REN88816  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,349,132 - 153,349,372UniSTSGRCh37
Build 36X153,002,326 - 153,002,566RGDNCBI36
CeleraX153,582,813 - 153,583,053RGD
Cytogenetic MapXq28UniSTS
HuRefX141,999,199 - 141,999,439UniSTS
REN88817  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,349,620 - 153,349,861UniSTSGRCh37
Build 36X153,002,814 - 153,003,055RGDNCBI36
CeleraX153,583,301 - 153,583,541RGD
Cytogenetic MapXq28UniSTS
HuRefX141,999,687 - 141,999,927UniSTS
REN88818  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,349,852 - 153,350,097UniSTSGRCh37
Build 36X153,003,046 - 153,003,291RGDNCBI36
CeleraX153,583,532 - 153,583,777RGD
Cytogenetic MapXq28UniSTS
HuRefX141,999,918 - 142,000,163UniSTS
REN88819  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,350,065 - 153,350,314UniSTSGRCh37
Build 36X153,003,259 - 153,003,508RGDNCBI36
CeleraX153,583,745 - 153,583,994RGD
Cytogenetic MapXq28UniSTS
HuRefX142,000,131 - 142,000,380UniSTS
REN88820  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,350,291 - 153,350,538UniSTSGRCh37
Build 36X153,003,485 - 153,003,732RGDNCBI36
CeleraX153,583,971 - 153,584,218RGD
Cytogenetic MapXq28UniSTS
HuRefX142,000,357 - 142,000,604UniSTS
REN88821  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,350,427 - 153,350,674UniSTSGRCh37
Build 36X153,003,621 - 153,003,868RGDNCBI36
CeleraX153,584,107 - 153,584,354RGD
Cytogenetic MapXq28UniSTS
HuRefX142,000,493 - 142,000,740UniSTS
REN88822  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,350,650 - 153,350,896UniSTSGRCh37
Build 36X153,003,844 - 153,004,090RGDNCBI36
CeleraX153,584,330 - 153,584,576RGD
Cytogenetic MapXq28UniSTS
REN88823  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,350,872 - 153,351,100UniSTSGRCh37
Build 36X153,004,066 - 153,004,294RGDNCBI36
CeleraX153,584,552 - 153,584,780RGD
Cytogenetic MapXq28UniSTS
REN88824  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,351,090 - 153,351,317UniSTSGRCh37
Build 36X153,004,284 - 153,004,511RGDNCBI36
CeleraX153,584,770 - 153,584,997RGD
Cytogenetic MapXq28UniSTS
REN88825  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,351,484 - 153,351,722UniSTSGRCh37
Build 36X153,004,678 - 153,004,916RGDNCBI36
CeleraX153,585,164 - 153,585,402RGD
Cytogenetic MapXq28UniSTS
HuRefX142,001,425 - 142,001,663UniSTS
REN88826  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,352,138 - 153,352,365UniSTSGRCh37
Build 36X153,005,332 - 153,005,559RGDNCBI36
CeleraX153,585,818 - 153,586,045RGD
Cytogenetic MapXq28UniSTS
HuRef1768,709,258 - 68,709,486UniSTS
HuRefX142,002,079 - 142,002,306UniSTS
REN88827  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,352,406 - 153,352,634UniSTSGRCh37
Build 36X153,005,600 - 153,005,828RGDNCBI36
CeleraX153,586,086 - 153,586,314RGD
Cytogenetic MapXq28UniSTS
HuRefX142,002,347 - 142,002,575UniSTS
REN88828  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,352,611 - 153,352,858UniSTSGRCh37
Build 36X153,005,805 - 153,006,052RGDNCBI36
CeleraX153,586,291 - 153,586,538RGD
Cytogenetic MapXq28UniSTS
HuRefX142,002,552 - 142,002,799UniSTS
REN88829  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,352,833 - 153,353,093UniSTSGRCh37
Build 36X153,006,027 - 153,006,287RGDNCBI36
CeleraX153,586,513 - 153,586,773RGD
Cytogenetic MapXq28UniSTS
HuRefX142,002,774 - 142,003,034UniSTS
REN88830  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,353,089 - 153,353,325UniSTSGRCh37
Build 36X153,006,283 - 153,006,519RGDNCBI36
CeleraX153,586,769 - 153,587,005RGD
Cytogenetic MapXq28UniSTS
HuRefX142,003,030 - 142,003,266UniSTS
REN88831  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,353,300 - 153,353,565UniSTSGRCh37
Build 36X153,006,494 - 153,006,759RGDNCBI36
CeleraX153,586,980 - 153,587,245RGD
Cytogenetic MapXq28UniSTS
HuRefX142,003,241 - 142,003,506UniSTS
REN88832  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,353,556 - 153,353,804UniSTSGRCh37
Build 36X153,006,750 - 153,006,998RGDNCBI36
CeleraX153,587,236 - 153,587,484RGD
Cytogenetic MapXq28UniSTS
HuRefX142,003,497 - 142,003,745UniSTS
REN88833  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,353,653 - 153,353,909UniSTSGRCh37
Build 36X153,006,847 - 153,007,103RGDNCBI36
CeleraX153,587,333 - 153,587,589RGD
Cytogenetic MapXq28UniSTS
HuRefX142,003,594 - 142,003,850UniSTS
REN88834  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,353,833 - 153,354,057UniSTSGRCh37
Build 36X153,007,027 - 153,007,251RGDNCBI36
CeleraX153,587,513 - 153,587,737RGD
Cytogenetic MapXq28UniSTS
REN88835  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,354,291 - 153,354,541UniSTSGRCh37
Build 36X153,007,485 - 153,007,735RGDNCBI36
CeleraX153,587,971 - 153,588,221RGD
Cytogenetic MapXq28UniSTS
REN88836  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,354,518 - 153,354,751UniSTSGRCh37
Build 36X153,007,712 - 153,007,945RGDNCBI36
CeleraX153,588,198 - 153,588,431RGD
Cytogenetic MapXq28UniSTS
HuRefX142,004,508 - 142,004,740UniSTS
REN88837  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,354,726 - 153,354,974UniSTSGRCh37
Build 36X153,007,920 - 153,008,168RGDNCBI36
CeleraX153,588,406 - 153,588,654RGD
Cytogenetic MapXq28UniSTS
HuRefX142,004,715 - 142,004,963UniSTS
REN88838  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,354,905 - 153,355,152UniSTSGRCh37
Build 36X153,008,099 - 153,008,346RGDNCBI36
CeleraX153,588,585 - 153,588,832RGD
Cytogenetic MapXq28UniSTS
HuRefX142,004,894 - 142,005,141UniSTS
REN88839  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,355,531 - 153,355,755UniSTSGRCh37
Build 36X153,008,725 - 153,008,949RGDNCBI36
CeleraX153,589,211 - 153,589,435RGD
Cytogenetic MapXq28UniSTS
REN88840  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,355,533 - 153,355,758UniSTSGRCh37
Build 36X153,008,727 - 153,008,952RGDNCBI36
CeleraX153,589,213 - 153,589,438RGD
Cytogenetic MapXq28UniSTS
REN88841  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,355,895 - 153,356,155UniSTSGRCh37
Build 36X153,009,089 - 153,009,349RGDNCBI36
CeleraX153,589,575 - 153,589,835RGD
Cytogenetic MapXq28UniSTS
HuRefX142,005,789 - 142,006,049UniSTS
REN88842  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,356,134 - 153,356,383UniSTSGRCh37
Build 36X153,009,328 - 153,009,577RGDNCBI36
CeleraX153,589,814 - 153,590,063RGD
Cytogenetic MapXq28UniSTS
HuRefX142,006,028 - 142,006,277UniSTS
REN88843  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,356,370 - 153,356,622UniSTSGRCh37
Build 36X153,009,564 - 153,009,816RGDNCBI36
CeleraX153,590,050 - 153,590,302RGD
Cytogenetic MapXq28UniSTS
HuRefX142,006,264 - 142,006,516UniSTS
REN88844  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,356,613 - 153,356,882UniSTSGRCh37
Build 36X153,009,807 - 153,010,076RGDNCBI36
CeleraX153,590,293 - 153,590,562RGD
Cytogenetic MapXq28UniSTS
HuRefX142,006,507 - 142,006,776UniSTS
REN88845  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,356,881 - 153,357,152UniSTSGRCh37
Build 36X153,010,075 - 153,010,346RGDNCBI36
CeleraX153,590,561 - 153,590,832RGD
Cytogenetic MapXq28UniSTS
HuRefX142,006,775 - 142,007,046UniSTS
REN88846  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,357,139 - 153,357,363UniSTSGRCh37
Build 36X153,010,333 - 153,010,557RGDNCBI36
CeleraX153,590,819 - 153,591,043RGD
Cytogenetic MapXq28UniSTS
HuRefX142,007,033 - 142,007,257UniSTS
REN88847  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,357,361 - 153,357,613UniSTSGRCh37
Build 36X153,010,555 - 153,010,807RGDNCBI36
CeleraX153,591,041 - 153,591,293RGD
Cytogenetic MapXq28UniSTS
HuRefX142,007,255 - 142,007,507UniSTS
REN88848  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,357,593 - 153,357,849UniSTSGRCh37
Build 36X153,010,787 - 153,011,043RGDNCBI36
CeleraX153,591,273 - 153,591,529RGD
Cytogenetic MapXq28UniSTS
HuRefX142,007,487 - 142,007,743UniSTS
REN88849  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,357,832 - 153,358,078UniSTSGRCh37
Build 36X153,011,026 - 153,011,272RGDNCBI36
CeleraX153,591,512 - 153,591,758RGD
Cytogenetic MapXq28UniSTS
HuRefX142,007,726 - 142,007,973UniSTS
REN88850  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,358,073 - 153,358,318UniSTSGRCh37
Build 36X153,011,267 - 153,011,512RGDNCBI36
CeleraX153,591,753 - 153,591,998RGD
Cytogenetic MapXq28UniSTS
HuRefX142,007,968 - 142,008,213UniSTS
REN88851  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,358,308 - 153,358,540UniSTSGRCh37
Build 36X153,011,502 - 153,011,734RGDNCBI36
CeleraX153,591,988 - 153,592,220RGD
Cytogenetic MapXq28UniSTS
HuRefX142,008,203 - 142,008,435UniSTS
REN88852  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,358,527 - 153,358,775UniSTSGRCh37
Build 36X153,011,721 - 153,011,969RGDNCBI36
CeleraX153,592,207 - 153,592,455RGD
Cytogenetic MapXq28UniSTS
HuRefX142,008,422 - 142,008,670UniSTS
REN88853  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,358,714 - 153,358,979UniSTSGRCh37
Build 36X153,011,908 - 153,012,173RGDNCBI36
CeleraX153,592,394 - 153,592,659RGD
Cytogenetic MapXq28UniSTS
HuRefX142,008,609 - 142,008,874UniSTS
REN88854  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,359,294 - 153,359,518UniSTSGRCh37
Build 36X153,012,488 - 153,012,712RGDNCBI36
CeleraX153,592,974 - 153,593,198RGD
Cytogenetic MapXq28UniSTS
REN88855  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,359,459 - 153,359,700UniSTSGRCh37
Build 36X153,012,653 - 153,012,894RGDNCBI36
CeleraX153,593,139 - 153,593,380RGD
Cytogenetic MapXq28UniSTS
HuRefX142,009,353 - 142,009,646UniSTS
REN88856  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,359,686 - 153,359,935UniSTSGRCh37
Build 36X153,012,880 - 153,013,129RGDNCBI36
CeleraX153,593,366 - 153,593,615RGD
Cytogenetic MapXq28UniSTS
HuRefX142,009,632 - 142,009,881UniSTS
REN88857  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,359,881 - 153,360,147UniSTSGRCh37
Build 36X153,013,075 - 153,013,341RGDNCBI36
CeleraX153,593,561 - 153,593,827RGD
Cytogenetic MapXq28UniSTS
HuRefX142,009,827 - 142,010,093UniSTS
REN88858  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,360,126 - 153,360,378UniSTSGRCh37
Build 36X153,013,320 - 153,013,572RGDNCBI36
CeleraX153,593,806 - 153,594,058RGD
Cytogenetic MapXq28UniSTS
HuRefX142,010,072 - 142,010,324UniSTS
REN88859  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,360,368 - 153,360,634UniSTSGRCh37
Build 36X153,013,562 - 153,013,828RGDNCBI36
CeleraX153,594,048 - 153,594,314RGD
Cytogenetic MapXq28UniSTS
HuRefX142,010,314 - 142,010,581UniSTS
REN88860  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,360,609 - 153,360,857UniSTSGRCh37
Build 36X153,013,803 - 153,014,051RGDNCBI36
CeleraX153,594,289 - 153,594,537RGD
Cytogenetic MapXq28UniSTS
HuRefX142,010,556 - 142,010,804UniSTS
REN88861  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,360,831 - 153,361,082UniSTSGRCh37
Build 36X153,014,025 - 153,014,276RGDNCBI36
CeleraX153,594,511 - 153,594,762RGD
Cytogenetic MapXq28UniSTS
HuRefX142,010,778 - 142,011,029UniSTS
REN88862  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,361,079 - 153,361,308UniSTSGRCh37
Build 36X153,014,273 - 153,014,502RGDNCBI36
CeleraX153,594,759 - 153,594,988RGD
Cytogenetic MapXq28UniSTS
HuRefX142,011,026 - 142,011,255UniSTS
REN88863  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,361,296 - 153,361,560UniSTSGRCh37
Build 36X153,014,490 - 153,014,754RGDNCBI36
CeleraX153,594,976 - 153,595,240RGD
Cytogenetic MapXq28UniSTS
HuRefX142,011,243 - 142,011,507UniSTS
REN88864  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,361,540 - 153,361,770UniSTSGRCh37
Build 36X153,014,734 - 153,014,964RGDNCBI36
CeleraX153,595,220 - 153,595,450RGD
Cytogenetic MapXq28UniSTS
HuRefX142,011,487 - 142,011,717UniSTS
REN88865  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,361,747 - 153,362,008UniSTSGRCh37
Build 36X153,014,941 - 153,015,202RGDNCBI36
CeleraX153,595,427 - 153,595,688RGD
Cytogenetic MapXq28UniSTS
HuRefX142,011,694 - 142,011,955UniSTS
REN88866  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,361,989 - 153,362,248UniSTSGRCh37
Build 36X153,015,183 - 153,015,442RGDNCBI36
CeleraX153,595,669 - 153,595,928RGD
Cytogenetic MapXq28UniSTS
HuRefX142,011,936 - 142,012,195UniSTS
REN88867  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,362,225 - 153,362,449UniSTSGRCh37
Build 36X153,015,419 - 153,015,643RGDNCBI36
CeleraX153,595,905 - 153,596,129RGD
Cytogenetic MapXq28UniSTS
HuRefX142,012,172 - 142,012,396UniSTS
REN88868  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,362,334 - 153,362,563UniSTSGRCh37
Build 36X153,015,528 - 153,015,757RGDNCBI36
CeleraX153,596,014 - 153,596,243RGD
Cytogenetic MapXq28UniSTS
HuRefX142,012,281 - 142,012,510UniSTS
REN88869  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,363,052 - 153,363,309UniSTSGRCh37
Build 36X153,016,246 - 153,016,503RGDNCBI36
CeleraX153,596,732 - 153,596,989RGD
Cytogenetic MapXq28UniSTS
REN88870  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,363,288 - 153,363,527UniSTSGRCh37
Build 36X153,016,482 - 153,016,721RGDNCBI36
CeleraX153,596,968 - 153,597,207RGD
Cytogenetic MapXq28UniSTS
HuRefX142,013,325 - 142,013,563UniSTS
REN88871  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,363,504 - 153,363,751UniSTSGRCh37
Build 36X153,016,698 - 153,016,945RGDNCBI36
CeleraX153,597,184 - 153,597,431RGD
Cytogenetic MapXq28UniSTS
HuRefX142,013,540 - 142,013,787UniSTS
REN88872  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,363,741 - 153,363,975UniSTSGRCh37
Build 36X153,016,935 - 153,017,169RGDNCBI36
CeleraX153,597,421 - 153,597,655RGD
Cytogenetic MapXq28UniSTS
HuRefX142,013,777 - 142,014,011UniSTS
REN88873  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,363,948 - 153,364,193UniSTSGRCh37
Build 36X153,017,142 - 153,017,387RGDNCBI36
CeleraX153,597,628 - 153,597,873RGD
Cytogenetic MapXq28UniSTS
HuRefX142,013,984 - 142,014,229UniSTS
REN88874  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,364,169 - 153,364,429UniSTSGRCh37
Build 36X153,017,363 - 153,017,623RGDNCBI36
CeleraX153,597,849 - 153,598,109RGD
Cytogenetic MapXq28UniSTS
HuRefX142,014,205 - 142,014,465UniSTS
REN88875  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,364,425 - 153,364,692UniSTSGRCh37
Build 36X153,017,619 - 153,017,886RGDNCBI36
CeleraX153,598,105 - 153,598,372RGD
Cytogenetic MapXq28UniSTS
HuRefX142,014,461 - 142,014,728UniSTS
REN88876  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,364,535 - 153,364,794UniSTSGRCh37
Build 36X153,017,729 - 153,017,988RGDNCBI36
CeleraX153,598,215 - 153,598,474RGD
Cytogenetic MapXq28UniSTS
HuRefX142,014,571 - 142,014,830UniSTS
REN88877  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,364,701 - 153,364,933UniSTSGRCh37
Build 36X153,017,895 - 153,018,127RGDNCBI36
CeleraX153,598,381 - 153,598,613RGD
Cytogenetic MapXq28UniSTS
HuRefX142,014,737 - 142,014,969UniSTS
REN88878  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,364,910 - 153,365,161UniSTSGRCh37
Build 36X153,018,104 - 153,018,355RGDNCBI36
CeleraX153,598,590 - 153,598,841RGD
Cytogenetic MapXq28UniSTS
HuRefX142,014,946 - 142,015,197UniSTS
stSG603763  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,276,915 - 153,278,412UniSTSGRCh37
Build 36X152,930,109 - 152,931,606RGDNCBI36
CeleraX153,510,620 - 153,512,117RGD
HuRefX141,928,166 - 141,929,663UniSTS
stSG603764  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,278,393 - 153,279,444UniSTSGRCh37
Build 36X152,931,587 - 152,932,638RGDNCBI36
CeleraX153,512,098 - 153,513,149RGD
HuRefX141,929,644 - 141,930,695UniSTS
stSG603765  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,279,593 - 153,280,933UniSTSGRCh37
Build 36X152,932,787 - 152,934,127RGDNCBI36
CeleraX153,513,298 - 153,514,638RGD
HuRefX141,930,844 - 141,932,181UniSTS
stSG603766  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,280,914 - 153,282,120UniSTSGRCh37
Build 36X152,934,108 - 152,935,314RGDNCBI36
CeleraX153,514,619 - 153,515,825RGD
HuRefX141,932,162 - 141,933,368UniSTS
stSG603772  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,287,177 - 153,288,306UniSTSGRCh37
Build 36X152,940,371 - 152,941,500RGDNCBI36
CeleraX153,520,882 - 153,522,011RGD
stSG603773  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,288,287 - 153,289,716UniSTSGRCh37
Build 36X152,941,481 - 152,942,910RGDNCBI36
CeleraX153,521,992 - 153,523,421RGD
Cytogenetic MapXq28UniSTS
HuRefX141,939,080 - 141,940,509UniSTS
stSG603774  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,289,822 - 153,291,120UniSTSGRCh37
Build 36X152,943,016 - 152,944,314RGDNCBI36
CeleraX153,523,527 - 153,524,825RGD
Cytogenetic MapXq28UniSTS
HuRefX141,940,615 - 141,941,913UniSTS
stSG603775  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,291,101 - 153,292,426UniSTSGRCh37
Build 36X152,944,295 - 152,945,620RGDNCBI36
CeleraX153,524,806 - 153,526,131RGD
Cytogenetic MapXq28UniSTS
HuRefX141,941,894 - 141,943,219UniSTS
stSG603776  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,292,407 - 153,293,684UniSTSGRCh37
Build 36X152,945,601 - 152,946,878RGDNCBI36
CeleraX153,526,112 - 153,527,389RGD
Cytogenetic MapXq28UniSTS
HuRefX141,943,200 - 141,944,477UniSTS
stSG603778  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,293,863 - 153,295,033UniSTSGRCh37
Build 36X152,947,057 - 152,948,227RGDNCBI36
CeleraX153,527,568 - 153,528,738RGD
Cytogenetic MapXq28UniSTS
HuRefX141,944,656 - 141,945,826UniSTS
stSG603779  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,295,014 - 153,295,217UniSTSGRCh37
Build 36X152,948,208 - 152,948,411RGDNCBI36
CeleraX153,528,719 - 153,528,922RGD
Cytogenetic MapXq28UniSTS
HuRefX141,945,807 - 141,946,010UniSTS
stSG603781  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,296,366 - 153,297,721UniSTSGRCh37
Build 36X152,949,560 - 152,950,915RGDNCBI36
CeleraX153,530,071 - 153,531,426RGD
Cytogenetic MapXq28UniSTS
HuRefX141,947,159 - 141,948,514UniSTS
stSG603782  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,297,708 - 153,298,753UniSTSGRCh37
Build 36X152,950,902 - 152,951,947RGDNCBI36
CeleraX153,531,413 - 153,532,458RGD
HuRefX141,948,501 - 141,949,546UniSTS
stSG603784  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,300,119 - 153,301,528UniSTSGRCh37
Build 36X152,953,313 - 152,954,722RGDNCBI36
CeleraX153,533,824 - 153,535,233RGD
HuRefX141,950,912 - 141,952,322UniSTS
stSG603786  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,303,132 - 153,304,380UniSTSGRCh37
Build 36X152,956,326 - 152,957,574RGDNCBI36
CeleraX153,536,817 - 153,538,065RGD
stSG603787  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,304,361 - 153,305,581UniSTSGRCh37
Build 36X152,957,555 - 152,958,775RGDNCBI36
CeleraX153,538,046 - 153,539,266RGD
HuRefX141,955,096 - 141,956,317UniSTS
stSG603788  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,305,562 - 153,306,876UniSTSGRCh37
Build 36X152,958,756 - 152,960,070RGDNCBI36
CeleraX153,539,247 - 153,540,561RGD
HuRefX141,956,298 - 141,957,612UniSTS
stSG603789  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,306,863 - 153,307,866UniSTSGRCh37
Build 36X152,960,057 - 152,961,060RGDNCBI36
CeleraX153,540,548 - 153,541,551RGD
HuRefX141,957,599 - 141,958,602UniSTS
stSG603790  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,307,847 - 153,309,089UniSTSGRCh37
Build 36X152,961,041 - 152,962,283RGDNCBI36
CeleraX153,541,532 - 153,542,774RGD
HuRefX141,958,583 - 141,959,825UniSTS
stSG603791  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,309,070 - 153,310,500UniSTSGRCh37
Build 36X152,962,264 - 152,963,694RGDNCBI36
CeleraX153,542,755 - 153,544,185RGD
HuRefX141,959,806 - 141,961,236UniSTS
stSG603792  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,310,499 - 153,311,909UniSTSGRCh37
Build 36X152,963,693 - 152,965,103RGDNCBI36
CeleraX153,544,184 - 153,545,592RGD
HuRefX141,961,235 - 141,962,644UniSTS
stSG603793  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,311,904 - 153,312,923UniSTSGRCh37
Build 36X152,965,098 - 152,966,117RGDNCBI36
CeleraX153,545,587 - 153,546,606RGD
HuRefX141,962,639 - 141,963,658UniSTS
stSG603794  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,312,904 - 153,314,215UniSTSGRCh37
Build 36X152,966,098 - 152,967,409RGDNCBI36
CeleraX153,546,587 - 153,547,898RGD
HuRefX141,963,639 - 141,964,950UniSTS
stSG603795  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,314,196 - 153,315,201UniSTSGRCh37
Build 36X152,967,390 - 152,968,395RGDNCBI36
CeleraX153,547,879 - 153,548,884RGD
HuRefX141,964,931 - 141,965,936UniSTS
stSG603797  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,316,560 - 153,317,858UniSTSGRCh37
Build 36X152,969,754 - 152,971,052RGDNCBI36
CeleraX153,550,243 - 153,551,541RGD
HuRefX141,967,295 - 141,968,593UniSTS
stSG603798  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,317,842 - 153,319,038UniSTSGRCh37
Build 36X152,971,036 - 152,972,232RGDNCBI36
CeleraX153,551,525 - 153,552,721RGD
HuRefX141,968,577 - 141,969,773UniSTS
stSG603799  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,320,829 - 153,322,157UniSTSGRCh37
Build 36X152,974,023 - 152,975,351RGDNCBI36
CeleraX153,554,512 - 153,555,840RGD
stSG603800  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,322,140 - 153,323,494UniSTSGRCh37
Build 36X152,975,334 - 152,976,688RGDNCBI36
CeleraX153,555,823 - 153,557,177RGD
HuRefX141,972,418 - 141,973,772UniSTS
stSG603801  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,323,689 - 153,324,908UniSTSGRCh37
Build 36X152,976,883 - 152,978,102RGDNCBI36
CeleraX153,557,372 - 153,558,591RGD
HuRefX141,973,967 - 141,975,186UniSTS
stSG603803  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,327,907 - 153,329,009UniSTSGRCh37
Build 36X152,981,101 - 152,982,203RGDNCBI36
CeleraX153,561,590 - 153,562,692RGD
HuRefX141,978,185 - 141,979,290UniSTS
stSG603804  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,329,112 - 153,330,505UniSTSGRCh37
Build 36X152,982,306 - 152,983,699RGDNCBI36
CeleraX153,562,795 - 153,564,188RGD
HuRefX141,979,393 - 141,980,786UniSTS
stSG603805  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,329,937 - 153,330,940UniSTSGRCh37
Build 36X152,983,131 - 152,984,134RGDNCBI36
CeleraX153,563,620 - 153,564,623RGD
HuRefX141,980,218 - 141,981,221UniSTS
stSG603806  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,336,162 - 153,336,962UniSTSGRCh37
Build 36X152,989,356 - 152,990,156RGDNCBI36
CeleraX153,569,845 - 153,570,644RGD
HuRefX141,986,433 - 141,987,237UniSTS
stSG603807  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,340,031 - 153,341,030UniSTSGRCh37
Build 36X152,993,225 - 152,994,224RGDNCBI36
CeleraX153,573,713 - 153,574,712RGD
HuRefX141,990,304 - 141,991,303UniSTS
stSG603808  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,340,722 - 153,341,724UniSTSGRCh37
Build 36X152,993,916 - 152,994,918RGDNCBI36
CeleraX153,574,404 - 153,575,406RGD
HuRefX141,990,995 - 141,991,997UniSTS
stSG603809  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,341,709 - 153,342,769UniSTSGRCh37
Build 36X152,994,903 - 152,995,963RGDNCBI36
CeleraX153,575,391 - 153,576,451RGD
HuRefX141,991,982 - 141,993,042UniSTS
stSG603810  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,343,270 - 153,344,361UniSTSGRCh37
Build 36X152,996,464 - 152,997,555RGDNCBI36
CeleraX153,576,952 - 153,578,042RGD
stSG603811  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,344,340 - 153,345,322UniSTSGRCh37
Build 36X152,997,534 - 152,998,516RGDNCBI36
CeleraX153,578,021 - 153,579,003RGD
stSG603812  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,345,302 - 153,345,731UniSTSGRCh37
Build 36X152,998,496 - 152,998,925RGDNCBI36
CeleraX153,578,983 - 153,579,412RGD
stSG603813  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,345,867 - 153,346,969UniSTSGRCh37
Build 36X152,999,061 - 153,000,163RGDNCBI36
CeleraX153,579,548 - 153,580,650RGD
HuRefX141,995,935 - 141,997,037UniSTS
stSG603814  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,346,955 - 153,348,321UniSTSGRCh37
Build 36X153,000,149 - 153,001,515RGDNCBI36
CeleraX153,580,636 - 153,582,002RGD
HuRefX141,997,023 - 141,998,388UniSTS
stSG603815  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,348,302 - 153,349,706UniSTSGRCh37
Build 36X153,001,496 - 153,002,900RGDNCBI36
CeleraX153,581,983 - 153,583,386RGD
HuRefX141,998,369 - 141,999,772UniSTS
stSG603816  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,349,687 - 153,351,096UniSTSGRCh37
Build 36X153,002,881 - 153,004,290RGDNCBI36
CeleraX153,583,367 - 153,584,776RGD
stSG603817  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,351,081 - 153,352,087UniSTSGRCh37
Build 36X153,004,275 - 153,005,281RGDNCBI36
CeleraX153,584,761 - 153,585,767RGD
stSG603818  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,352,068 - 153,353,293UniSTSGRCh37
Build 36X153,005,262 - 153,006,487RGDNCBI36
CeleraX153,585,748 - 153,586,973RGD
HuRefX142,002,009 - 142,003,234UniSTS
stSG603820  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,353,876 - 153,354,904UniSTSGRCh37
Build 36X153,007,070 - 153,008,098RGDNCBI36
CeleraX153,587,556 - 153,588,584RGD
HuRefX142,003,817 - 142,004,893UniSTS
stSG603821  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,354,885 - 153,356,376UniSTSGRCh37
Build 36X153,008,079 - 153,009,570RGDNCBI36
CeleraX153,588,565 - 153,590,056RGD
HuRefX142,004,874 - 142,006,270UniSTS
stSG603822  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,356,357 - 153,357,428UniSTSGRCh37
Build 36X153,009,551 - 153,010,622RGDNCBI36
CeleraX153,590,037 - 153,591,108RGD
HuRefX142,006,251 - 142,007,322UniSTS
stSG603823  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,357,409 - 153,358,648UniSTSGRCh37
Build 36X153,010,603 - 153,011,842RGDNCBI36
CeleraX153,591,089 - 153,592,328RGD
HuRefX142,007,303 - 142,008,543UniSTS
stSG603824  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,358,627 - 153,359,655UniSTSGRCh37
Build 36X153,011,821 - 153,012,849RGDNCBI36
CeleraX153,592,307 - 153,593,335RGD
HuRefX142,008,522 - 142,009,601UniSTS
stSG603825  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,359,704 - 153,360,845UniSTSGRCh37
Build 36X153,012,898 - 153,014,039RGDNCBI36
CeleraX153,593,384 - 153,594,525RGD
HuRefX142,009,650 - 142,010,792UniSTS
stSG603826  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,360,902 - 153,362,180UniSTSGRCh37
Build 36X153,014,096 - 153,015,374RGDNCBI36
CeleraX153,594,582 - 153,595,860RGD
HuRefX142,010,849 - 142,012,127UniSTS
RH79177  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,295,028 - 153,295,153UniSTSGRCh37
Build 36X152,948,222 - 152,948,347RGDNCBI36
CeleraX153,528,733 - 153,528,858RGD
Cytogenetic MapXq28UniSTS
HuRefX141,945,821 - 141,945,946UniSTS
GeneMap99-GB4 RH MapX350.95UniSTS
MECP2_4127  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,295,554 - 153,296,411UniSTSGRCh37
Build 36X152,948,748 - 152,949,605RGDNCBI36
CeleraX153,529,259 - 153,530,116RGD
HuRefX141,946,347 - 141,947,204UniSTS
G54853  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,311,509 - 153,312,209UniSTSGRCh37
CeleraX153,545,192 - 153,545,892UniSTS
Cytogenetic MapXq28UniSTS
HuRefX141,962,244 - 141,962,944UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High
Medium 1799 1766 1186 151 1113 50 3018 1112 2535 256 1100 1530 114 1113 1947 2
Low 633 1218 537 471 835 414 1337 1081 1173 162 348 78 57 91 841 2
Below cutoff 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_007107 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001110792 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001316337 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001369391 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001369392 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001369393 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001369394 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001386137 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001386138 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001386139 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_004992 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011531166 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024452383 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047442115 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047442116 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047442117 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047442118 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047442119 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047442120 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047442121 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047442122 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054327091 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054327092 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054327093 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054327094 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054327095 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054327096 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054327097 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054327098 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054327099 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB209464 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC244097 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF030876 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF158180 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ132915 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ132917 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK093896 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK289444 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY523575 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY541280 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC011612 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC031833 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI767019 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX538060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471172 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068255 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ656049 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ656051 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ212169 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ212170 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ589746 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ589747 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ203293 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ203294 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ203295 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ896382 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GU479943 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GU812285 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GU812286 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM005664 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM020402 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM156732 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM156733 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM222642 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ127345 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ141377 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ141378 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ154629 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ256768 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JC739563 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX514955 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX514956 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX514957 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX514958 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX514959 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX514960 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX514961 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX514962 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX514963 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX514964 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX514965 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX514966 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX514967 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX514968 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX514969 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX514970 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX514971 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX514972 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX514973 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX514974 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX514975 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX514976 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX514977 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX514978 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX514979 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX514980 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX514981 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX514982 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX514983 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX514984 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX514985 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX514986 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX514987 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX514988 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX514989 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX514990 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX514991 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX514992 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX514993 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX514994 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX514995 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX514996 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX514997 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX514998 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX514999 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515000 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515001 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515002 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515003 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515004 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515005 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515006 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515007 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515008 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515009 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515010 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515011 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515012 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515013 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515014 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515015 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515016 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515017 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515018 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515019 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515020 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515021 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515022 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515023 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515024 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515025 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515026 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515027 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515028 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515029 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515030 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515031 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515032 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515033 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515034 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515035 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515036 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515037 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515038 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515039 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515040 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515041 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515042 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515043 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515044 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515045 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515046 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515047 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515048 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515049 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515050 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515051 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515052 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515053 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515054 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515055 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515056 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515057 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515058 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515059 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515061 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515062 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515064 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515065 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515066 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515067 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515068 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515069 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515070 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515071 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515072 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515073 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515074 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515075 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515076 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515077 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515078 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515079 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515080 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515081 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515082 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515083 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515084 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515085 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515086 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515087 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515088 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515089 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515090 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515091 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515092 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515093 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515094 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515095 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515096 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515097 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515098 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515099 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515100 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515101 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515102 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515103 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515104 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515105 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515106 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515107 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515108 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515109 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515110 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515111 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515112 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515113 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515114 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515115 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515116 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515117 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515118 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515119 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515120 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515121 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515122 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515123 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515124 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515125 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515126 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515127 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515128 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515129 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515130 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515131 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515132 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515133 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515134 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515135 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515136 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515137 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515138 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515139 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515140 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515141 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515142 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515143 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515144 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515145 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515146 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515147 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515148 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515149 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515150 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515151 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515152 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515153 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515154 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515155 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515156 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515157 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515158 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515159 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515160 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515161 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515162 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515163 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515164 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515165 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515166 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515167 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515168 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515169 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515170 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515171 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515172 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515173 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515174 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515175 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515176 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515177 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515178 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515179 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515180 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515181 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515182 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515183 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515184 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515185 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515186 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515187 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515188 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515189 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515190 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515191 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515192 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515193 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515194 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515195 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515196 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515197 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515198 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515199 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515200 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515201 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515202 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515203 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515204 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515205 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515206 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515207 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515208 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515209 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515210 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515211 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515212 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515213 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515214 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515215 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515216 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515217 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515218 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515219 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515220 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515221 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515222 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515223 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515224 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515225 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515226 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515227 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515228 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515229 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515230 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515231 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515232 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515233 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515234 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515235 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515236 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515237 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515238 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515239 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515240 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515241 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515242 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515243 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515244 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515245 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515246 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515247 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515248 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515249 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515250 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515251 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515252 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515253 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515254 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515255 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515256 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515257 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515258 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515260 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515263 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515264 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515265 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515268 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515272 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515273 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178174 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178175 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178176 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178177 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178178 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178179 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178180 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L37298 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OR858764 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U52112 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X89430 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X94628 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X99686 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X99687 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y12643 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000303391   ⟹   ENSP00000301948
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX154,021,573 - 154,097,717 (-)Ensembl
RefSeq Acc Id: ENST00000369957   ⟹   ENSP00000358973
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX154,031,370 - 154,097,663 (-)Ensembl
RefSeq Acc Id: ENST00000407218   ⟹   ENSP00000384865
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX154,030,605 - 154,097,689 (-)Ensembl
RefSeq Acc Id: ENST00000415944   ⟹   ENSP00000416267
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX154,032,435 - 154,096,978 (-)Ensembl
RefSeq Acc Id: ENST00000453960   ⟹   ENSP00000395535
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX154,021,573 - 154,097,717 (-)Ensembl
RefSeq Acc Id: ENST00000460227
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX154,032,435 - 154,049,481 (-)Ensembl
RefSeq Acc Id: ENST00000463644
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX154,032,435 - 154,049,481 (-)Ensembl
RefSeq Acc Id: ENST00000481807
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX154,032,434 - 154,040,103 (-)Ensembl
RefSeq Acc Id: ENST00000486506
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX154,031,269 - 154,060,358 (-)Ensembl
RefSeq Acc Id: ENST00000488293
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX154,032,435 - 154,049,479 (-)Ensembl
RefSeq Acc Id: ENST00000496908
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX154,032,373 - 154,096,969 (-)Ensembl
RefSeq Acc Id: ENST00000611468   ⟹   ENSP00000479736
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX154,032,466 - 154,092,307 (-)Ensembl
RefSeq Acc Id: ENST00000622433   ⟹   ENSP00000484470
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX154,030,839 - 154,092,293 (-)Ensembl
RefSeq Acc Id: ENST00000625300
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX154,032,459 - 154,034,174 (-)Ensembl
RefSeq Acc Id: ENST00000626422
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX154,032,459 - 154,034,174 (-)Ensembl
RefSeq Acc Id: ENST00000627864
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX154,090,802 - 154,097,680 (-)Ensembl
RefSeq Acc Id: ENST00000628176   ⟹   ENSP00000486978
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX154,030,239 - 154,097,737 (-)Ensembl
RefSeq Acc Id: ENST00000629277
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX154,094,966 - 154,097,523 (-)Ensembl
RefSeq Acc Id: ENST00000630151   ⟹   ENSP00000486089
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX154,032,459 - 154,094,476 (-)Ensembl
RefSeq Acc Id: ENST00000631210
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX154,032,373 - 154,137,103 (-)Ensembl
RefSeq Acc Id: ENST00000637467
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX154,092,232 - 154,094,780 (-)Ensembl
RefSeq Acc Id: ENST00000637533
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX154,032,475 - 154,097,025 (-)Ensembl
RefSeq Acc Id: ENST00000637791
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX154,033,994 - 154,092,261 (-)Ensembl
RefSeq Acc Id: ENST00000637917   ⟹   ENSP00000489847
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX154,030,843 - 154,032,216 (-)Ensembl
RefSeq Acc Id: ENST00000638041
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX154,057,148 - 154,057,810 (-)Ensembl
RefSeq Acc Id: ENST00000640414   ⟹   ENSP00000492871
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX154,030,606 - 154,092,293 (-)Ensembl
RefSeq Acc Id: ENST00000674996   ⟹   ENSP00000502832
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX154,057,161 - 154,092,307 (-)Ensembl
RefSeq Acc Id: ENST00000675526   ⟹   ENSP00000501710
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX154,032,492 - 154,092,307 (-)Ensembl
RefSeq Acc Id: ENST00000675841
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX154,056,397 - 154,092,307 (-)Ensembl
RefSeq Acc Id: ENST00000676382
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX154,032,464 - 154,097,625 (-)Ensembl
RefSeq Acc Id: ENST00000700484
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX154,032,495 - 154,097,625 (-)Ensembl
RefSeq Acc Id: NM_001110792   ⟹   NP_001104262
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X154,021,573 - 154,097,717 (-)NCBI
GRCh37X153,287,025 - 153,363,188 (-)NCBI
HuRefX141,928,231 - 142,007,659 (-)ENTREZGENE
CHM1_1X153,170,091 - 153,237,718 (-)NCBI
T2T-CHM13v2.0X152,295,254 - 152,371,375 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001316337   ⟹   NP_001303266
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X154,021,573 - 154,097,717 (-)NCBI
CHM1_1X153,170,091 - 153,237,718 (-)NCBI
T2T-CHM13v2.0X152,295,254 - 152,371,375 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001369391   ⟹   NP_001356320
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X154,021,573 - 154,097,717 (-)NCBI
T2T-CHM13v2.0X152,295,254 - 152,371,375 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001369392   ⟹   NP_001356321
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X154,021,573 - 154,097,717 (-)NCBI
T2T-CHM13v2.0X152,295,254 - 152,371,375 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001369393   ⟹   NP_001356322
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X154,021,573 - 154,097,717 (-)NCBI
T2T-CHM13v2.0X152,295,254 - 152,371,375 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001369394   ⟹   NP_001356323
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X154,021,573 - 154,096,969 (-)NCBI
T2T-CHM13v2.0X152,295,254 - 152,370,627 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001386137   ⟹   NP_001373066
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X154,021,573 - 154,097,717 (-)NCBI
T2T-CHM13v2.0X152,295,254 - 152,371,375 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001386138   ⟹   NP_001373067
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X154,021,573 - 154,097,717 (-)NCBI
T2T-CHM13v2.0X152,295,254 - 152,371,375 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001386139   ⟹   NP_001373068
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X154,021,573 - 154,097,717 (-)NCBI
T2T-CHM13v2.0X152,295,254 - 152,371,375 (-)NCBI
Sequence:
RefSeq Acc Id: NM_004992   ⟹   NP_004983
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X154,021,573 - 154,097,717 (-)NCBI
GRCh37X153,287,025 - 153,363,188 (-)NCBI
Build 36X152,940,458 - 153,016,323 (-)NCBI Archive
HuRefX141,928,231 - 142,007,659 (-)ENTREZGENE
CHM1_1X153,161,670 - 153,237,718 (-)NCBI
T2T-CHM13v2.0X152,295,254 - 152,371,375 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024452383   ⟹   XP_024308151
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X154,021,573 - 154,093,548 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047442115   ⟹   XP_047298071
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X154,021,573 - 154,093,549 (-)NCBI
RefSeq Acc Id: XM_047442116   ⟹   XP_047298072
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X154,021,573 - 154,096,781 (-)NCBI
RefSeq Acc Id: XM_047442117   ⟹   XP_047298073
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X154,021,573 - 154,058,528 (-)NCBI
RefSeq Acc Id: XM_047442118   ⟹   XP_047298074
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X154,021,573 - 154,093,548 (-)NCBI
RefSeq Acc Id: XM_047442119   ⟹   XP_047298075
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X154,021,573 - 154,093,548 (-)NCBI
RefSeq Acc Id: XM_047442120   ⟹   XP_047298076
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X154,021,573 - 154,093,548 (-)NCBI
RefSeq Acc Id: XM_047442121   ⟹   XP_047298077
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X154,021,573 - 154,036,861 (-)NCBI
RefSeq Acc Id: XM_047442122   ⟹   XP_047298078
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X154,021,573 - 154,031,453 (-)NCBI
RefSeq Acc Id: XM_054327091   ⟹   XP_054183066
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X152,295,254 - 152,367,207 (-)NCBI
RefSeq Acc Id: XM_054327092   ⟹   XP_054183067
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X152,295,254 - 152,370,439 (-)NCBI
RefSeq Acc Id: XM_054327093   ⟹   XP_054183068
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X152,295,254 - 152,367,206 (-)NCBI
RefSeq Acc Id: XM_054327094   ⟹   XP_054183069
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X152,295,254 - 152,332,184 (-)NCBI
RefSeq Acc Id: XM_054327095   ⟹   XP_054183070
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X152,295,254 - 152,367,206 (-)NCBI
RefSeq Acc Id: XM_054327096   ⟹   XP_054183071
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X152,295,254 - 152,367,206 (-)NCBI
RefSeq Acc Id: XM_054327097   ⟹   XP_054183072
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X152,295,254 - 152,367,206 (-)NCBI
RefSeq Acc Id: XM_054327098   ⟹   XP_054183073
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X152,295,254 - 152,310,542 (-)NCBI
RefSeq Acc Id: XM_054327099   ⟹   XP_054183074
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X152,295,254 - 152,305,134 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001104262 (Get FASTA)   NCBI Sequence Viewer  
  NP_001303266 (Get FASTA)   NCBI Sequence Viewer  
  NP_001356320 (Get FASTA)   NCBI Sequence Viewer  
  NP_001356321 (Get FASTA)   NCBI Sequence Viewer  
  NP_001356322 (Get FASTA)   NCBI Sequence Viewer  
  NP_001356323 (Get FASTA)   NCBI Sequence Viewer  
  NP_001373066 (Get FASTA)   NCBI Sequence Viewer  
  NP_001373067 (Get FASTA)   NCBI Sequence Viewer  
  NP_001373068 (Get FASTA)   NCBI Sequence Viewer  
  NP_004983 (Get FASTA)   NCBI Sequence Viewer  
  XP_024308151 (Get FASTA)   NCBI Sequence Viewer  
  XP_047298071 (Get FASTA)   NCBI Sequence Viewer  
  XP_047298072 (Get FASTA)   NCBI Sequence Viewer  
  XP_047298073 (Get FASTA)   NCBI Sequence Viewer  
  XP_047298074 (Get FASTA)   NCBI Sequence Viewer  
  XP_047298075 (Get FASTA)   NCBI Sequence Viewer  
  XP_047298076 (Get FASTA)   NCBI Sequence Viewer  
  XP_047298077 (Get FASTA)   NCBI Sequence Viewer  
  XP_047298078 (Get FASTA)   NCBI Sequence Viewer  
  XP_054183066 (Get FASTA)   NCBI Sequence Viewer  
  XP_054183067 (Get FASTA)   NCBI Sequence Viewer  
  XP_054183068 (Get FASTA)   NCBI Sequence Viewer  
  XP_054183069 (Get FASTA)   NCBI Sequence Viewer  
  XP_054183070 (Get FASTA)   NCBI Sequence Viewer  
  XP_054183071 (Get FASTA)   NCBI Sequence Viewer  
  XP_054183072 (Get FASTA)   NCBI Sequence Viewer  
  XP_054183073 (Get FASTA)   NCBI Sequence Viewer  
  XP_054183074 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAC08757 (Get FASTA)   NCBI Sequence Viewer  
  AAC32737 (Get FASTA)   NCBI Sequence Viewer  
  AAF33023 (Get FASTA)   NCBI Sequence Viewer  
  AAH11612 (Get FASTA)   NCBI Sequence Viewer  
  AAH31833 (Get FASTA)   NCBI Sequence Viewer  
  AAS55455 (Get FASTA)   NCBI Sequence Viewer  
  ACO25362 (Get FASTA)   NCBI Sequence Viewer  
  ACS92725 (Get FASTA)   NCBI Sequence Viewer  
  ACS92726 (Get FASTA)   NCBI Sequence Viewer  
  ACY24448 (Get FASTA)   NCBI Sequence Viewer  
  ADD17354 (Get FASTA)   NCBI Sequence Viewer  
  ADE87881 (Get FASTA)   NCBI Sequence Viewer  
  ADE87882 (Get FASTA)   NCBI Sequence Viewer  
  ADG26557 (Get FASTA)   NCBI Sequence Viewer  
  ADK25710 (Get FASTA)   NCBI Sequence Viewer  
  ADK25711 (Get FASTA)   NCBI Sequence Viewer  
  ADM72855 (Get FASTA)   NCBI Sequence Viewer  
  ADM88591 (Get FASTA)   NCBI Sequence Viewer  
  ADW01219 (Get FASTA)   NCBI Sequence Viewer  
  ADW01220 (Get FASTA)   NCBI Sequence Viewer  
  AEE61261 (Get FASTA)   NCBI Sequence Viewer  
  AGO46586 (Get FASTA)   NCBI Sequence Viewer  
  AGO46587 (Get FASTA)   NCBI Sequence Viewer  
  AGO46588 (Get FASTA)   NCBI Sequence Viewer  
  AGO46589 (Get FASTA)   NCBI Sequence Viewer  
  AGO46590 (Get FASTA)   NCBI Sequence Viewer  
  AGO46591 (Get FASTA)   NCBI Sequence Viewer  
  AGO46592 (Get FASTA)   NCBI Sequence Viewer  
  AGO46593 (Get FASTA)   NCBI Sequence Viewer  
  AGO46594 (Get FASTA)   NCBI Sequence Viewer  
  AGO46595 (Get FASTA)   NCBI Sequence Viewer  
  AGO46596 (Get FASTA)   NCBI Sequence Viewer  
  AGO46597 (Get FASTA)   NCBI Sequence Viewer  
  AGO46598 (Get FASTA)   NCBI Sequence Viewer  
  AGO46599 (Get FASTA)   NCBI Sequence Viewer  
  AGO46600 (Get FASTA)   NCBI Sequence Viewer  
  AGO46601 (Get FASTA)   NCBI Sequence Viewer  
  AGO46602 (Get FASTA)   NCBI Sequence Viewer  
  AGO46603 (Get FASTA)   NCBI Sequence Viewer  
  AGO46604 (Get FASTA)   NCBI Sequence Viewer  
  AGO46605 (Get FASTA)   NCBI Sequence Viewer  
  AGO46606 (Get FASTA)   NCBI Sequence Viewer  
  AGO46607 (Get FASTA)   NCBI Sequence Viewer  
  AGO46608 (Get FASTA)   NCBI Sequence Viewer  
  AGO46609 (Get FASTA)   NCBI Sequence Viewer  
  AGO46610 (Get FASTA)   NCBI Sequence Viewer  
  AGO46611 (Get FASTA)   NCBI Sequence Viewer  
  AGO46612 (Get FASTA)   NCBI Sequence Viewer  
  AGO46613 (Get FASTA)   NCBI Sequence Viewer  
  AGO46614 (Get FASTA)   NCBI Sequence Viewer  
  AGO46615 (Get FASTA)   NCBI Sequence Viewer  
  AGO46616 (Get FASTA)   NCBI Sequence Viewer  
  AGO46617 (Get FASTA)   NCBI Sequence Viewer  
  AGO46618 (Get FASTA)   NCBI Sequence Viewer  
  AGO46619 (Get FASTA)   NCBI Sequence Viewer  
  AGO46620 (Get FASTA)   NCBI Sequence Viewer  
  AGO46621 (Get FASTA)   NCBI Sequence Viewer  
  AGO46622 (Get FASTA)   NCBI Sequence Viewer  
  AGO46623 (Get FASTA)   NCBI Sequence Viewer  
  AGO46624 (Get FASTA)   NCBI Sequence Viewer  
  AGO46625 (Get FASTA)   NCBI Sequence Viewer  
  AGO46626 (Get FASTA)   NCBI Sequence Viewer  
  AGO46627 (Get FASTA)   NCBI Sequence Viewer  
  AGO46628 (Get FASTA)   NCBI Sequence Viewer  
  AGO46629 (Get FASTA)   NCBI Sequence Viewer  
  AGO46630 (Get FASTA)   NCBI Sequence Viewer  
  AGO46631 (Get FASTA)   NCBI Sequence Viewer  
  AGO46632 (Get FASTA)   NCBI Sequence Viewer  
  AGO46633 (Get FASTA)   NCBI Sequence Viewer  
  AGO46634 (Get FASTA)   NCBI Sequence Viewer  
  AGO46635 (Get FASTA)   NCBI Sequence Viewer  
  AGO46636 (Get FASTA)   NCBI Sequence Viewer  
  AGO46637 (Get FASTA)   NCBI Sequence Viewer  
  AGO46638 (Get FASTA)   NCBI Sequence Viewer  
  AGO46639 (Get FASTA)   NCBI Sequence Viewer  
  AGO46640 (Get FASTA)   NCBI Sequence Viewer  
  AGO46641 (Get FASTA)   NCBI Sequence Viewer  
  AGO46642 (Get FASTA)   NCBI Sequence Viewer  
  AGO46643 (Get FASTA)   NCBI Sequence Viewer  
  AGO46644 (Get FASTA)   NCBI Sequence Viewer  
  AGO46645 (Get FASTA)   NCBI Sequence Viewer  
  AGO46646 (Get FASTA)   NCBI Sequence Viewer  
  AGO46647 (Get FASTA)   NCBI Sequence Viewer  
  AGO46648 (Get FASTA)   NCBI Sequence Viewer  
  AGO46649 (Get FASTA)   NCBI Sequence Viewer  
  AGO46650 (Get FASTA)   NCBI Sequence Viewer  
  AGO46651 (Get FASTA)   NCBI Sequence Viewer  
  AGO46652 (Get FASTA)   NCBI Sequence Viewer  
  AGO46653 (Get FASTA)   NCBI Sequence Viewer  
  AGO46654 (Get FASTA)   NCBI Sequence Viewer  
  AGO46655 (Get FASTA)   NCBI Sequence Viewer  
  AGO46656 (Get FASTA)   NCBI Sequence Viewer  
  AGO46657 (Get FASTA)   NCBI Sequence Viewer  
  AGO46658 (Get FASTA)   NCBI Sequence Viewer  
  AGO46659 (Get FASTA)   NCBI Sequence Viewer  
  AGO46660 (Get FASTA)   NCBI Sequence Viewer  
  AGO46661 (Get FASTA)   NCBI Sequence Viewer  
  AGO46662 (Get FASTA)   NCBI Sequence Viewer  
  AGO46663 (Get FASTA)   NCBI Sequence Viewer  
  AGO46664 (Get FASTA)   NCBI Sequence Viewer  
  AGO46665 (Get FASTA)   NCBI Sequence Viewer  
  AGO46666 (Get FASTA)   NCBI Sequence Viewer  
  AGO46667 (Get FASTA)   NCBI Sequence Viewer  
  AGO46668 (Get FASTA)   NCBI Sequence Viewer  
  AGO46669 (Get FASTA)   NCBI Sequence Viewer  
  AGO46670 (Get FASTA)   NCBI Sequence Viewer  
  AGO46671 (Get FASTA)   NCBI Sequence Viewer  
  AGO46672 (Get FASTA)   NCBI Sequence Viewer  
  AGO46673 (Get FASTA)   NCBI Sequence Viewer  
  AGO46674 (Get FASTA)   NCBI Sequence Viewer  
  AGO46675 (Get FASTA)   NCBI Sequence Viewer  
  AGO46676 (Get FASTA)   NCBI Sequence Viewer  
  AGO46677 (Get FASTA)   NCBI Sequence Viewer  
  AGO46678 (Get FASTA)   NCBI Sequence Viewer  
  AGO46679 (Get FASTA)   NCBI Sequence Viewer  
  AGO46680 (Get FASTA)   NCBI Sequence Viewer  
  AGO46681 (Get FASTA)   NCBI Sequence Viewer  
  AGO46682 (Get FASTA)   NCBI Sequence Viewer  
  AGO46683 (Get FASTA)   NCBI Sequence Viewer  
  AGO46684 (Get FASTA)   NCBI Sequence Viewer  
  AGO46685 (Get FASTA)   NCBI Sequence Viewer  
  AGO46686 (Get FASTA)   NCBI Sequence Viewer  
  AGO46687 (Get FASTA)   NCBI Sequence Viewer  
  AGO46688 (Get FASTA)   NCBI Sequence Viewer  
  AGO46689 (Get FASTA)   NCBI Sequence Viewer  
  AGO46690 (Get FASTA)   NCBI Sequence Viewer  
  AGO46691 (Get FASTA)   NCBI Sequence Viewer  
  AGO46692 (Get FASTA)   NCBI Sequence Viewer  
  AGO46693 (Get FASTA)   NCBI Sequence Viewer  
  AGO46694 (Get FASTA)   NCBI Sequence Viewer  
  AGO46695 (Get FASTA)   NCBI Sequence Viewer  
  AGO46696 (Get FASTA)   NCBI Sequence Viewer  
  AGO46697 (Get FASTA)   NCBI Sequence Viewer  
  AGO46698 (Get FASTA)   NCBI Sequence Viewer  
  AGO46699 (Get FASTA)   NCBI Sequence Viewer  
  AGO46700 (Get FASTA)   NCBI Sequence Viewer  
  AGO46701 (Get FASTA)   NCBI Sequence Viewer  
  AGO46702 (Get FASTA)   NCBI Sequence Viewer  
  AGO46703 (Get FASTA)   NCBI Sequence Viewer  
  AGO46704 (Get FASTA)   NCBI Sequence Viewer  
  AGO46705 (Get FASTA)   NCBI Sequence Viewer  
  AGO46706 (Get FASTA)   NCBI Sequence Viewer  
  AGO46707 (Get FASTA)   NCBI Sequence Viewer  
  AGO46708 (Get FASTA)   NCBI Sequence Viewer  
  AGO46709 (Get FASTA)   NCBI Sequence Viewer  
  AGO46710 (Get FASTA)   NCBI Sequence Viewer  
  AGO46711 (Get FASTA)   NCBI Sequence Viewer  
  AGO46712 (Get FASTA)   NCBI Sequence Viewer  
  AGO46713 (Get FASTA)   NCBI Sequence Viewer  
  AGO46714 (Get FASTA)   NCBI Sequence Viewer  
  AGO46715 (Get FASTA)   NCBI Sequence Viewer  
  AGO46716 (Get FASTA)   NCBI Sequence Viewer  
  AGO46717 (Get FASTA)   NCBI Sequence Viewer  
  AGO46718 (Get FASTA)   NCBI Sequence Viewer  
  AGO46719 (Get FASTA)   NCBI Sequence Viewer  
  AGO46720 (Get FASTA)   NCBI Sequence Viewer  
  AGO46721 (Get FASTA)   NCBI Sequence Viewer  
  AGO46722 (Get FASTA)   NCBI Sequence Viewer  
  AGO46723 (Get FASTA)   NCBI Sequence Viewer  
  AGO46724 (Get FASTA)   NCBI Sequence Viewer  
  AGO46725 (Get FASTA)   NCBI Sequence Viewer  
  AGO46726 (Get FASTA)   NCBI Sequence Viewer  
  AGO46727 (Get FASTA)   NCBI Sequence Viewer  
  AGO46728 (Get FASTA)   NCBI Sequence Viewer  
  AGO46729 (Get FASTA)   NCBI Sequence Viewer  
  AGO46730 (Get FASTA)   NCBI Sequence Viewer  
  AGO46731 (Get FASTA)   NCBI Sequence Viewer  
  AGO46732 (Get FASTA)   NCBI Sequence Viewer  
  AGO46733 (Get FASTA)   NCBI Sequence Viewer  
  AGO46734 (Get FASTA)   NCBI Sequence Viewer  
  AGO46735 (Get FASTA)   NCBI Sequence Viewer  
  AGO46736 (Get FASTA)   NCBI Sequence Viewer  
  AGO46737 (Get FASTA)   NCBI Sequence Viewer  
  AGO46738 (Get FASTA)   NCBI Sequence Viewer  
  AGO46739 (Get FASTA)   NCBI Sequence Viewer  
  AGO46740 (Get FASTA)   NCBI Sequence Viewer  
  AGO46741 (Get FASTA)   NCBI Sequence Viewer  
  AGO46742 (Get FASTA)   NCBI Sequence Viewer  
  AGO46743 (Get FASTA)   NCBI Sequence Viewer  
  AGO46744 (Get FASTA)   NCBI Sequence Viewer  
  AGO46745 (Get FASTA)   NCBI Sequence Viewer  
  AGO46746 (Get FASTA)   NCBI Sequence Viewer  
  AGO46747 (Get FASTA)   NCBI Sequence Viewer  
  AGO46748 (Get FASTA)   NCBI Sequence Viewer  
  AGO46749 (Get FASTA)   NCBI Sequence Viewer  
  AGO46750 (Get FASTA)   NCBI Sequence Viewer  
  AGO46751 (Get FASTA)   NCBI Sequence Viewer  
  AGO46752 (Get FASTA)   NCBI Sequence Viewer  
  AGO46753 (Get FASTA)   NCBI Sequence Viewer  
  AGO46754 (Get FASTA)   NCBI Sequence Viewer  
  AGO46755 (Get FASTA)   NCBI Sequence Viewer  
  AGO46756 (Get FASTA)   NCBI Sequence Viewer  
  AGO46757 (Get FASTA)   NCBI Sequence Viewer  
  AGO46758 (Get FASTA)   NCBI Sequence Viewer  
  AGO46759 (Get FASTA)   NCBI Sequence Viewer  
  AGO46760 (Get FASTA)   NCBI Sequence Viewer  
  AGO46761 (Get FASTA)   NCBI Sequence Viewer  
  AGO46762 (Get FASTA)   NCBI Sequence Viewer  
  AGO46763 (Get FASTA)   NCBI Sequence Viewer  
  AGO46764 (Get FASTA)   NCBI Sequence Viewer  
  AGO46765 (Get FASTA)   NCBI Sequence Viewer  
  AGO46766 (Get FASTA)   NCBI Sequence Viewer  
  AGO46767 (Get FASTA)   NCBI Sequence Viewer  
  AGO46768 (Get FASTA)   NCBI Sequence Viewer  
  AGO46769 (Get FASTA)   NCBI Sequence Viewer  
  AGO46770 (Get FASTA)   NCBI Sequence Viewer  
  AGO46771 (Get FASTA)   NCBI Sequence Viewer  
  AGO46772 (Get FASTA)   NCBI Sequence Viewer  
  AGO46773 (Get FASTA)   NCBI Sequence Viewer  
  AGO46774 (Get FASTA)   NCBI Sequence Viewer  
  AGO46775 (Get FASTA)   NCBI Sequence Viewer  
  AGO46776 (Get FASTA)   NCBI Sequence Viewer  
  AGO46777 (Get FASTA)   NCBI Sequence Viewer  
  AGO46778 (Get FASTA)   NCBI Sequence Viewer  
  AGO46779 (Get FASTA)   NCBI Sequence Viewer  
  AGO46780 (Get FASTA)   NCBI Sequence Viewer  
  AGO46781 (Get FASTA)   NCBI Sequence Viewer  
  AGO46782 (Get FASTA)   NCBI Sequence Viewer  
  AGO46783 (Get FASTA)   NCBI Sequence Viewer  
  AGO46784 (Get FASTA)   NCBI Sequence Viewer  
  AGO46785 (Get FASTA)   NCBI Sequence Viewer  
  AGO46786 (Get FASTA)   NCBI Sequence Viewer  
  AGO46787 (Get FASTA)   NCBI Sequence Viewer  
  AGO46788 (Get FASTA)   NCBI Sequence Viewer  
  AGO46789 (Get FASTA)   NCBI Sequence Viewer  
  AGO46790 (Get FASTA)   NCBI Sequence Viewer  
  AGO46791 (Get FASTA)   NCBI Sequence Viewer  
  AGO46792 (Get FASTA)   NCBI Sequence Viewer  
  AGO46793 (Get FASTA)   NCBI Sequence Viewer  
  AGO46794 (Get FASTA)   NCBI Sequence Viewer  
  AGO46795 (Get FASTA)   NCBI Sequence Viewer  
  AGO46796 (Get FASTA)   NCBI Sequence Viewer  
  AGO46797 (Get FASTA)   NCBI Sequence Viewer  
  AGO46798 (Get FASTA)   NCBI Sequence Viewer  
  AGO46799 (Get FASTA)   NCBI Sequence Viewer  
  AGO46800 (Get FASTA)   NCBI Sequence Viewer  
  AGO46801 (Get FASTA)   NCBI Sequence Viewer  
  AGO46802 (Get FASTA)   NCBI Sequence Viewer  
  AGO46803 (Get FASTA)   NCBI Sequence Viewer  
  AGO46804 (Get FASTA)   NCBI Sequence Viewer  
  AGO46805 (Get FASTA)   NCBI Sequence Viewer  
  AGO46806 (Get FASTA)   NCBI Sequence Viewer  
  AGO46807 (Get FASTA)   NCBI Sequence Viewer  
  AGO46808 (Get FASTA)   NCBI Sequence Viewer  
  AGO46809 (Get FASTA)   NCBI Sequence Viewer  
  AGO46810 (Get FASTA)   NCBI Sequence Viewer  
  AGO46811 (Get FASTA)   NCBI Sequence Viewer  
  AGO46812 (Get FASTA)   NCBI Sequence Viewer  
  AGO46813 (Get FASTA)   NCBI Sequence Viewer  
  AGO46814 (Get FASTA)   NCBI Sequence Viewer  
  AGO46815 (Get FASTA)   NCBI Sequence Viewer  
  AGO46816 (Get FASTA)   NCBI Sequence Viewer  
  AGO46817 (Get FASTA)   NCBI Sequence Viewer  
  AGO46818 (Get FASTA)   NCBI Sequence Viewer  
  AGO46819 (Get FASTA)   NCBI Sequence Viewer  
  AGO46820 (Get FASTA)   NCBI Sequence Viewer  
  AGO46821 (Get FASTA)   NCBI Sequence Viewer  
  AGO46822 (Get FASTA)   NCBI Sequence Viewer  
  AGO46823 (Get FASTA)   NCBI Sequence Viewer  
  AGO46824 (Get FASTA)   NCBI Sequence Viewer  
  AGO46825 (Get FASTA)   NCBI Sequence Viewer  
  AGO46826 (Get FASTA)   NCBI Sequence Viewer  
  AGO46827 (Get FASTA)   NCBI Sequence Viewer  
  AGO46828 (Get FASTA)   NCBI Sequence Viewer  
  AGO46829 (Get FASTA)   NCBI Sequence Viewer  
  AGO46830 (Get FASTA)   NCBI Sequence Viewer  
  AGO46831 (Get FASTA)   NCBI Sequence Viewer  
  AGO46832 (Get FASTA)   NCBI Sequence Viewer  
  AGO46833 (Get FASTA)   NCBI Sequence Viewer  
  AGO46834 (Get FASTA)   NCBI Sequence Viewer  
  AGO46835 (Get FASTA)   NCBI Sequence Viewer  
  AGO46836 (Get FASTA)   NCBI Sequence Viewer  
  AGO46837 (Get FASTA)   NCBI Sequence Viewer  
  AGO46838 (Get FASTA)   NCBI Sequence Viewer  
  AGO46839 (Get FASTA)   NCBI Sequence Viewer  
  AGO46840 (Get FASTA)   NCBI Sequence Viewer  
  AGO46841 (Get FASTA)   NCBI Sequence Viewer  
  AGO46842 (Get FASTA)   NCBI Sequence Viewer  
  AGO46843 (Get FASTA)   NCBI Sequence Viewer  
  AGO46844 (Get FASTA)   NCBI Sequence Viewer  
  AGO46845 (Get FASTA)   NCBI Sequence Viewer  
  AGO46846 (Get FASTA)   NCBI Sequence Viewer  
  AGO46847 (Get FASTA)   NCBI Sequence Viewer  
  AGO46848 (Get FASTA)   NCBI Sequence Viewer  
  AGO46849 (Get FASTA)   NCBI Sequence Viewer  
  AGO46850 (Get FASTA)   NCBI Sequence Viewer  
  AGO46851 (Get FASTA)   NCBI Sequence Viewer  
  AGO46852 (Get FASTA)   NCBI Sequence Viewer  
  AGO46853 (Get FASTA)   NCBI Sequence Viewer  
  AGO46854 (Get FASTA)   NCBI Sequence Viewer  
  AGO46855 (Get FASTA)   NCBI Sequence Viewer  
  AGO46856 (Get FASTA)   NCBI Sequence Viewer  
  AGO46857 (Get FASTA)   NCBI Sequence Viewer  
  AGO46858 (Get FASTA)   NCBI Sequence Viewer  
  AGO46859 (Get FASTA)   NCBI Sequence Viewer  
  AGO46860 (Get FASTA)   NCBI Sequence Viewer  
  AGO46861 (Get FASTA)   NCBI Sequence Viewer  
  AGO46862 (Get FASTA)   NCBI Sequence Viewer  
  AGO46863 (Get FASTA)   NCBI Sequence Viewer  
  AGO46864 (Get FASTA)   NCBI Sequence Viewer  
  AGO46865 (Get FASTA)   NCBI Sequence Viewer  
  AGO46866 (Get FASTA)   NCBI Sequence Viewer  
  AGO46867 (Get FASTA)   NCBI Sequence Viewer  
  AGO46868 (Get FASTA)   NCBI Sequence Viewer  
  AGO46869 (Get FASTA)   NCBI Sequence Viewer  
  AGO46870 (Get FASTA)   NCBI Sequence Viewer  
  AGO46871 (Get FASTA)   NCBI Sequence Viewer  
  AGO46872 (Get FASTA)   NCBI Sequence Viewer  
  AGO46873 (Get FASTA)   NCBI Sequence Viewer  
  AGO46874 (Get FASTA)   NCBI Sequence Viewer  
  AGO46875 (Get FASTA)   NCBI Sequence Viewer  
  AGO46876 (Get FASTA)   NCBI Sequence Viewer  
  AGO46877 (Get FASTA)   NCBI Sequence Viewer  
  AGO46878 (Get FASTA)   NCBI Sequence Viewer  
  AGO46879 (Get FASTA)   NCBI Sequence Viewer  
  AGO46880 (Get FASTA)   NCBI Sequence Viewer  
  AGO46881 (Get FASTA)   NCBI Sequence Viewer  
  AGO46882 (Get FASTA)   NCBI Sequence Viewer  
  AGO46883 (Get FASTA)   NCBI Sequence Viewer  
  AGO46884 (Get FASTA)   NCBI Sequence Viewer  
  AGO46885 (Get FASTA)   NCBI Sequence Viewer  
  AGO46886 (Get FASTA)   NCBI Sequence Viewer  
  AGO46887 (Get FASTA)   NCBI Sequence Viewer  
  AGO46888 (Get FASTA)   NCBI Sequence Viewer  
  AGO46889 (Get FASTA)   NCBI Sequence Viewer  
  AGO46890 (Get FASTA)   NCBI Sequence Viewer  
  AGO46891 (Get FASTA)   NCBI Sequence Viewer  
  AGO46892 (Get FASTA)   NCBI Sequence Viewer  
  AGO46893 (Get FASTA)   NCBI Sequence Viewer  
  AGO46894 (Get FASTA)   NCBI Sequence Viewer  
  AGO46895 (Get FASTA)   NCBI Sequence Viewer  
  AGO46896 (Get FASTA)   NCBI Sequence Viewer  
  AGO46897 (Get FASTA)   NCBI Sequence Viewer  
  AGO46898 (Get FASTA)   NCBI Sequence Viewer  
  AGO46899 (Get FASTA)   NCBI Sequence Viewer  
  AGO46900 (Get FASTA)   NCBI Sequence Viewer  
  AGO46901 (Get FASTA)   NCBI Sequence Viewer  
  AGO46902 (Get FASTA)   NCBI Sequence Viewer  
  AGO46903 (Get FASTA)   NCBI Sequence Viewer  
  AGO46904 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33632 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33633 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33634 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33635 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33636 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33637 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33638 (Get FASTA)   NCBI Sequence Viewer  
  BAD92701 (Get FASTA)   NCBI Sequence Viewer  
  BAF82133 (Get FASTA)   NCBI Sequence Viewer  
  CAA61599 (Get FASTA)   NCBI Sequence Viewer  
  CAA64331 (Get FASTA)   NCBI Sequence Viewer  
  CAA68001 (Get FASTA)   NCBI Sequence Viewer  
  CAA73190 (Get FASTA)   NCBI Sequence Viewer  
  CAB46446 (Get FASTA)   NCBI Sequence Viewer  
  CAD97991 (Get FASTA)   NCBI Sequence Viewer  
  CEF39440 (Get FASTA)   NCBI Sequence Viewer  
  EAW72757 (Get FASTA)   NCBI Sequence Viewer  
  EAW72758 (Get FASTA)   NCBI Sequence Viewer  
  EAW72759 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000301948
  ENSP00000301948.6
  ENSP00000358973.4
  ENSP00000384865.2
  ENSP00000395535
  ENSP00000395535.2
  ENSP00000416267.1
  ENSP00000486089.1
  ENSP00000486978.1
  ENSP00000489847.1
  ENSP00000501710.1
  ENSP00000502832.1
GenBank Protein P51608 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_004983   ⟸   NM_004992
- Peptide Label: isoform 1
- UniProtKB: Q6QHH9 (UniProtKB/Swiss-Prot),   O15233 (UniProtKB/Swiss-Prot),   Q7Z384 (UniProtKB/Swiss-Prot),   P51608 (UniProtKB/Swiss-Prot),   D3YJ43 (UniProtKB/TrEMBL),   C6KG45 (UniProtKB/TrEMBL),   D0UU70 (UniProtKB/TrEMBL),   D5L9I5 (UniProtKB/TrEMBL),   D9ZNA4 (UniProtKB/TrEMBL),   E9LUH3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001104262   ⟸   NM_001110792
- Peptide Label: isoform 2
- UniProtKB: A0A140VKC4 (UniProtKB/TrEMBL),   C6KG45 (UniProtKB/TrEMBL),   D0UU70 (UniProtKB/TrEMBL),   D5L9I5 (UniProtKB/TrEMBL),   D9ZNA4 (UniProtKB/TrEMBL),   E9LUH3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001303266   ⟸   NM_001316337
- Peptide Label: isoform 3
- UniProtKB: D5L9I5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024308151   ⟸   XM_024452383
- Peptide Label: isoform X2
- UniProtKB: D5L9I5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001356322   ⟸   NM_001369393
- Peptide Label: isoform 3
- UniProtKB: D5L9I5 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001356321   ⟸   NM_001369392
- Peptide Label: isoform 3
- UniProtKB: D5L9I5 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001356320   ⟸   NM_001369391
- Peptide Label: isoform 3
- UniProtKB: D5L9I5 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001356323   ⟸   NM_001369394
- Peptide Label: isoform 3
- UniProtKB: D5L9I5 (UniProtKB/TrEMBL)
RefSeq Acc Id: ENSP00000484470   ⟸   ENST00000622433
RefSeq Acc Id: ENSP00000489847   ⟸   ENST00000637917
RefSeq Acc Id: ENSP00000395535   ⟸   ENST00000453960
RefSeq Acc Id: ENSP00000416267   ⟸   ENST00000415944
RefSeq Acc Id: ENSP00000479736   ⟸   ENST00000611468
RefSeq Acc Id: ENSP00000486978   ⟸   ENST00000628176
RefSeq Acc Id: ENSP00000492871   ⟸   ENST00000640414
RefSeq Acc Id: ENSP00000384865   ⟸   ENST00000407218
RefSeq Acc Id: ENSP00000358973   ⟸   ENST00000369957
RefSeq Acc Id: ENSP00000486089   ⟸   ENST00000630151
RefSeq Acc Id: ENSP00000301948   ⟸   ENST00000303391
RefSeq Acc Id: NP_001373068   ⟸   NM_001386139
- Peptide Label: isoform 4
RefSeq Acc Id: NP_001373067   ⟸   NM_001386138
- Peptide Label: isoform 4
RefSeq Acc Id: NP_001373066   ⟸   NM_001386137
- Peptide Label: isoform 4
RefSeq Acc Id: ENSP00000502832   ⟸   ENST00000674996
RefSeq Acc Id: ENSP00000501710   ⟸   ENST00000675526
RefSeq Acc Id: XP_047298072   ⟸   XM_047442116
- Peptide Label: isoform X1
- UniProtKB: Q6QHH9 (UniProtKB/Swiss-Prot),   P51608 (UniProtKB/Swiss-Prot),   O15233 (UniProtKB/Swiss-Prot),   Q7Z384 (UniProtKB/Swiss-Prot),   D3YJ43 (UniProtKB/TrEMBL),   C6KG45 (UniProtKB/TrEMBL),   D0UU70 (UniProtKB/TrEMBL),   D5L9I5 (UniProtKB/TrEMBL),   D9ZNA4 (UniProtKB/TrEMBL),   E9LUH3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047298071   ⟸   XM_047442115
- Peptide Label: isoform X1
- UniProtKB: Q6QHH9 (UniProtKB/Swiss-Prot),   P51608 (UniProtKB/Swiss-Prot),   O15233 (UniProtKB/Swiss-Prot),   Q7Z384 (UniProtKB/Swiss-Prot),   D3YJ43 (UniProtKB/TrEMBL),   C6KG45 (UniProtKB/TrEMBL),   D0UU70 (UniProtKB/TrEMBL),   D5L9I5 (UniProtKB/TrEMBL),   D9ZNA4 (UniProtKB/TrEMBL),   E9LUH3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047298076   ⟸   XM_047442120
- Peptide Label: isoform X2
- UniProtKB: D5L9I5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047298075   ⟸   XM_047442119
- Peptide Label: isoform X2
- UniProtKB: D5L9I5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047298074   ⟸   XM_047442118
- Peptide Label: isoform X2
- UniProtKB: D5L9I5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047298073   ⟸   XM_047442117
- Peptide Label: isoform X2
- UniProtKB: D5L9I5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047298077   ⟸   XM_047442121
- Peptide Label: isoform X2
- UniProtKB: D5L9I5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047298078   ⟸   XM_047442122
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054183067   ⟸   XM_054327092
- Peptide Label: isoform X1
- UniProtKB: Q6QHH9 (UniProtKB/Swiss-Prot),   P51608 (UniProtKB/Swiss-Prot),   O15233 (UniProtKB/Swiss-Prot),   Q7Z384 (UniProtKB/Swiss-Prot),   D3YJ43 (UniProtKB/TrEMBL),   C6KG45 (UniProtKB/TrEMBL),   D0UU70 (UniProtKB/TrEMBL),   D5L9I5 (UniProtKB/TrEMBL),   D9ZNA4 (UniProtKB/TrEMBL),   E9LUH3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054183066   ⟸   XM_054327091
- Peptide Label: isoform X1
- UniProtKB: Q6QHH9 (UniProtKB/Swiss-Prot),   P51608 (UniProtKB/Swiss-Prot),   O15233 (UniProtKB/Swiss-Prot),   Q7Z384 (UniProtKB/Swiss-Prot),   D3YJ43 (UniProtKB/TrEMBL),   C6KG45 (UniProtKB/TrEMBL),   D0UU70 (UniProtKB/TrEMBL),   D5L9I5 (UniProtKB/TrEMBL),   D9ZNA4 (UniProtKB/TrEMBL),   E9LUH3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054183072   ⟸   XM_054327097
- Peptide Label: isoform X2
- UniProtKB: D5L9I5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054183071   ⟸   XM_054327096
- Peptide Label: isoform X2
- UniProtKB: D5L9I5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054183070   ⟸   XM_054327095
- Peptide Label: isoform X2
- UniProtKB: D5L9I5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054183068   ⟸   XM_054327093
- Peptide Label: isoform X2
- UniProtKB: D5L9I5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054183069   ⟸   XM_054327094
- Peptide Label: isoform X2
- UniProtKB: D5L9I5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054183073   ⟸   XM_054327098
- Peptide Label: isoform X2
- UniProtKB: D5L9I5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054183074   ⟸   XM_054327099
- Peptide Label: isoform X3
Protein Domains
MBD

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P51608-F1-model_v2 AlphaFold P51608 1-486 view protein structure

Promoters
RGD ID:6809036
Promoter ID:HG_KWN:68606
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   Lymphoblastoid
Transcripts:OTTHUMT00000289810
Position:
Human AssemblyChrPosition (strand)Source
Build 36X152,951,131 - 152,953,572 (-)MPROMDB
RGD ID:6809035
Promoter ID:HG_KWN:68607
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000289809
Position:
Human AssemblyChrPosition (strand)Source
Build 36X152,958,771 - 152,959,271 (-)MPROMDB
RGD ID:6808750
Promoter ID:HG_KWN:68608
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:NB4
Transcripts:ENST00000393671
Position:
Human AssemblyChrPosition (strand)Source
Build 36X152,963,681 - 152,964,181 (-)MPROMDB
RGD ID:6809034
Promoter ID:HG_KWN:68609
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid
Transcripts:OTTHUMT00000289806,   OTTHUMT00000289807,   OTTHUMT00000289808
Position:
Human AssemblyChrPosition (strand)Source
Build 36X152,968,031 - 152,969,097 (-)MPROMDB
RGD ID:6809031
Promoter ID:HG_KWN:68610
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   K562,   Lymphoblastoid
Transcripts:OTTHUMT00000061147
Position:
Human AssemblyChrPosition (strand)Source
Build 36X152,976,626 - 152,977,347 (-)MPROMDB
RGD ID:6808746
Promoter ID:HG_KWN:68612
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   K562
Transcripts:ENST00000303391
Position:
Human AssemblyChrPosition (strand)Source
Build 36X153,010,254 - 153,010,754 (-)MPROMDB
RGD ID:6809032
Promoter ID:HG_KWN:68613
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000258053,   OTTHUMT00000289804
Position:
Human AssemblyChrPosition (strand)Source
Build 36X153,015,401 - 153,016,627 (-)MPROMDB
RGD ID:6808748
Promoter ID:HG_KWN:68614
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_12Hour,   K562,   Lymphoblastoid
Transcripts:ENST00000369957,   ENST00000369964,   ENST00000407218,   OTTHUMT00000061146
Position:
Human AssemblyChrPosition (strand)Source
Build 36X153,016,271 - 153,016,822 (-)MPROMDB
RGD ID:13628578
Promoter ID:EPDNEW_H29527
Type:initiation region
Name:MECP2_3
Description:methyl-CpG binding protein 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29528  EPDNEW_H29529  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X154,096,930 - 154,096,990EPDNEW
RGD ID:13628580
Promoter ID:EPDNEW_H29528
Type:initiation region
Name:MECP2_1
Description:methyl-CpG binding protein 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29527  EPDNEW_H29529  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X154,097,698 - 154,097,758EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6990 AgrOrtholog
COSMIC MECP2 COSMIC
Ensembl Genes ENSG00000169057 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000303391 ENTREZGENE
  ENST00000303391.11 UniProtKB/Swiss-Prot
  ENST00000369957.5 UniProtKB/TrEMBL
  ENST00000407218.5 UniProtKB/TrEMBL
  ENST00000415944.3 UniProtKB/TrEMBL
  ENST00000453960 ENTREZGENE
  ENST00000453960.7 UniProtKB/Swiss-Prot
  ENST00000628176.2 UniProtKB/TrEMBL
  ENST00000630151.2 UniProtKB/TrEMBL
  ENST00000637917.1 UniProtKB/TrEMBL
  ENST00000674996.1 UniProtKB/TrEMBL
  ENST00000675526.1 UniProtKB/TrEMBL
GTEx ENSG00000169057 GTEx
HGNC ID HGNC:6990 ENTREZGENE
Human Proteome Map MECP2 Human Proteome Map
InterPro DNA-bd_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Me_CpG-bd_MeCP2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MeCP2/MBD4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Methyl_CpG_DNA-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:4204 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 4204 ENTREZGENE
OMIM 300005 OMIM
PANTHER COILED-COIL DOMAIN CONTAINING 122 UniProtKB/TrEMBL
  METHYL-CPG BINDING PROTEIN, MBD UniProtKB/TrEMBL
  METHYL-CPG-BINDING DOMAIN PROTEIN 1 UniProtKB/TrEMBL
  METHYL-CPG-BINDING PROTEIN 2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PRIMATE-EXPANDED PROTEIN FAMILY UniProtKB/TrEMBL
  PTHR15074 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam MBD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA30729 PharmGKB
PIRSF Methyl_CpG_bd_MeCP2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE MBD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART MBD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF54171 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A075BNY0_HUMAN UniProtKB/TrEMBL
  A0A075BPH5_HUMAN UniProtKB/TrEMBL
  A0A075BPP5_HUMAN UniProtKB/TrEMBL
  A0A075BRI2_HUMAN UniProtKB/TrEMBL
  A0A075BRJ5_HUMAN UniProtKB/TrEMBL
  A0A0D9SEX1_HUMAN UniProtKB/TrEMBL
  A0A0D9SFX7_HUMAN UniProtKB/TrEMBL
  A0A0S2Z3U3_HUMAN UniProtKB/TrEMBL
  A0A0S2Z3V4_HUMAN UniProtKB/TrEMBL
  A0A0S2Z3Y9_HUMAN UniProtKB/TrEMBL
  A0A0S2Z3Z6_HUMAN UniProtKB/TrEMBL
  A0A0S2Z400_HUMAN UniProtKB/TrEMBL
  A0A0S2Z401_HUMAN UniProtKB/TrEMBL
  A0A140VKC4 ENTREZGENE, UniProtKB/TrEMBL
  A0A1B0GTV0_HUMAN UniProtKB/TrEMBL
  A0A6Q8PF93_HUMAN UniProtKB/TrEMBL
  A0A6Q8PHQ3_HUMAN UniProtKB/TrEMBL
  B5MCB4_HUMAN UniProtKB/TrEMBL
  C6FGV0_HUMAN UniProtKB/TrEMBL
  C6KG44_HUMAN UniProtKB/TrEMBL
  C6KG45 ENTREZGENE, UniProtKB/TrEMBL
  C9JH89_HUMAN UniProtKB/TrEMBL
  D0UU70 ENTREZGENE, UniProtKB/TrEMBL
  D3YJ43 ENTREZGENE, UniProtKB/TrEMBL
  D5L9I4_HUMAN UniProtKB/TrEMBL
  D5L9I5 ENTREZGENE, UniProtKB/TrEMBL
  D6QZ43_HUMAN UniProtKB/TrEMBL
  D9ZNA4 ENTREZGENE, UniProtKB/TrEMBL
  E1B2J3_HUMAN UniProtKB/TrEMBL
  E9LUH3 ENTREZGENE, UniProtKB/TrEMBL
  E9LUH4_HUMAN UniProtKB/TrEMBL
  H7BY72_HUMAN UniProtKB/TrEMBL
  I6LM39_HUMAN UniProtKB/TrEMBL
  MECP2_HUMAN UniProtKB/Swiss-Prot
  O15233 ENTREZGENE
  P51608 ENTREZGENE
  Q59FJ6_HUMAN UniProtKB/TrEMBL
  Q6QHH9 ENTREZGENE
  Q7Z384 ENTREZGENE
UniProt Secondary O15233 UniProtKB/Swiss-Prot
  Q6QHH9 UniProtKB/Swiss-Prot
  Q7Z384 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-04-04 MECP2  methyl-CpG binding protein 2  MRX79  mental retardation, X-linked 79  Data merged from RGD:1346839 737654 PROVISIONAL
2016-03-16 MECP2  methyl-CpG binding protein 2  MRX16  mental retardation, X-linked 16  Data merged from RGD:1348880 737654 PROVISIONAL
2015-11-17 MECP2  methyl-CpG binding protein 2    methyl CpG binding protein 2  Symbol and/or name change 5135510 APPROVED
2014-06-24 MECP2  methyl CpG binding protein 2    methyl CpG binding protein 2 (Rett syndrome)  Symbol and/or name change 5135510 APPROVED