MECP2
Homo sapiens
Gene Name: Methyl CpG binding protein 2
Aliases: RTS, RTT, PPMX, MRX16, MRX79, AUTSX3, DKFZp686A24160
Chromosome No: X
Chromosome Band: Xq28
Genetic Category: Syndromic-Rare Single Gene variant--Functional-Syndromic/Functional-Rare single gene variant/Functional
Associated Syndrome(s): MECP2 duplication syndrome,Rett syndrome
Aliases: RTS, RTT, PPMX, MRX16, MRX79, AUTSX3, DKFZp686A24160
Chromosome No: X
Chromosome Band: Xq28
Genetic Category: Syndromic-Rare Single Gene variant--Functional-Syndromic/Functional-Rare single gene variant/Functional
Associated Syndrome(s): MECP2 duplication syndrome,Rett syndrome
Summary Statistics:
ASD Reports: 160
Recent Reports: 24
Annotated variants: 357
Associated CNVs: 11
Evidence score: 5
ASD Reports: 160
Recent Reports: 24
Annotated variants: 357
Associated CNVs: 11
Evidence score: 5
| Associated Disorders: |
|
Relevance to Autism
Mutations in the MECP2 gene underlie Rett syndrome, an autism spectrum disorder. Some studies have found that rare variations in the MECP2 gene are associated with autism, while others have looked and found no variants in autistic patients. It appears that EGR2 and MECP2 can regulate each other's expression (Swanberg et al., 2009).
Molecular Function
The encoded protein has methylation-dependent transcriptional repressor activity . It is also involved in regulation of RNA splicing.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2.
Rett syndrome
Positive Association
MECP2 structural and 3'-UTR variants in schizophrenia, autism and other psychiatric diseases: a possible association with autism.
ASD
SCZ
Negative Association
No mutations in the coding region of the Rett syndrome gene MECP2 in 59 autistic patients.
Rett syndrome
Support
A novel familial MECP2 mutation in a young boy: clinical and molecular findings.
ID
Epilepsy
Support
Diagnostic value of partial exome sequencing in developmental disorders.
DD
Support
Diagnostic yield of patients with undiagnosed intellectual disability
DD, ID
Support
The impact of inversions across 33,924 families with rare disease from a national genome sequencing project
DD, ID, epilepsy/seizures
Autistic features, stereotypy
Support
De novo genic mutations among a Chinese autism spectrum disorder cohort.
ASD
Support
Genome sequencing broadens the range of contributing variants with clinical implications in schizophrenia
SCZ
Support
Non-canonical C-terminal variant of MeCP2 R344W exhibits enhanced degradation rate
Atypcial Rett syndrome, ASD, DD
Support
Double Genetic Diagnosis Involving MECP2 and EPHB4 in a Child with Neurodevelopmental Delay and Vascular Anomalies: A Case Report
Rett syndrome, ASD, DD
Support
Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders.
ASD
Support
Neurological Diseases With Autism Spectrum Disorder: Role of ASD Risk Genes.
ASD
ID, epilepsy/seizures
Support
Aberrant brain functional and structural developments in MECP2 duplication rats
MECP2 duplication syndrome
Support
The genetic landscape of autism spectrum disorder in an ancestrally diverse cohort
ASD
Support
Familial cases and male cases with MECP2 mutations.
Rett syndrome, X-linked intellectual disability
Support
Genetic Testing in Patients with Neurodevelopmental Disorders: Experience of 511 Patients at Cincinnati Children's Hospital Medical Center
ASD, DD
Epilepsy/seizures
Support
Whole Exome Sequencing as a First-Line Molecular Genetic Test in Developmental and Epileptic Encephalopathies
ID, epilepsy/seizures
Support
Mutations in epilepsy and intellectual disability genes in patients with features of Rett syndrome.
Rett syndrome
Epilepsy
Support
Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes
ASD
Support
Revealing function-altering MECP2 mutations in individuals with autism spectrum disorder using yeast and Drosophila
ASD
Support
Submicroscopic duplication in Xq28 causes increased expression of the MECP2 gene in a boy with severe mental retardation and features of Rett syndr...
ID
RTT
Support
Diagnostic exome sequencing of syndromic epilepsy patients in clinical practice.
DD, epilepsy/seizures
Support
Trio-based exome sequencing reveals a high rate of the de novo variants in intellectual disability
ID
Support
Phenotypic and genetic analysis of children with unexplained neurodevelopmental delay and neurodevelopmental comorbidities in a Chinese cohort using trio-based whole-exome sequencing
DD, ID
ASD, ADHD, epilepsy/seizures
Support
Identification of a RAI1-associated disease network through integration of exome sequencing, transcriptomics, and 3D genomics.
DD
Behavioral abnormalities (self-injurious, aggressi
Support
Graded and pan-neural disease phenotypes of Rett Syndrome linked with dosage of functional MeCP2
Support
Predicting the diagnostic efficacy of trio-based whole exome sequencing in children with low-function autism spectrum disorders: a multicenter study
ASD, DD/ID
ADHD
Support
The expanding role of MBD genes in autism: identification of a MECP2 duplication and novel alterations in MBD5, MBD6, and SETDB1.
ASD
Support
The combination of whole-exome sequencing and copy number variation sequencing enables the diagnosis of rare neurological disorders.
DD, ID
ASD, epilepsy/seizures
Support
Trio-whole exome sequencing reveals the importance of de novo variants in children with intellectual disability and developmental delay
ASD, DD
Epilepsy/seizures
Support
MECP2 mutation in male patients with non-specific X-linked mental retardation.
ID
Support
A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology.
DD
Support
Detecting cryptic clinically relevant structural variation in exome-sequencing data increases diagnostic yield for developmental disorders
DD, ID, epilepsy/seizures
Support
The developmental timing of spinal touch processing alterations predicts behavioral changes in genetic mouse models of autism spectrum disorders
ASD
Somatosensory behaviors
Support
A novel heterozygous pathogenic variation in the MECP2 gene causing typical Rett syndrome: a case report
Rett syndrome, DD
Stereotypy
Support
Large-scale discovery of novel genetic causes of developmental disorders.
DD
Stereotypic behavior
Support
Characterization of intellectual disability and autism comorbidity through gene panel sequencing.
ID, ASD or autistic traits
Support
Autistic-like behaviors and impaired chronic inflammatory pain in primary nociceptive neuron-specific deletion of Mecp2 or Fmr1 knockout male mice
ASD
Support
Chromosome 2 deletion encompassing the MAP2 gene in a patient with autism and Rett-like features.
ASD
Support
Clinical and molecular genetic characterization of familial MECP2 duplication syndrome in a Chinese family.
MECP2 duplication syndrome
ASD, ID, epilepsy/seizures
Support
Deep phenotyping and whole-exome sequencing improved the diagnostic yield for nuclear pedigrees with neurodevelopmental disorders
ADHD, DD, ID
Support
Behavioral and transcriptomic analyses of mecp2 function in zebrafish
Rett syndrome
Support
Identification of Intellectual Disability Genes in Female Patients with A Skewed X Inactivation Pattern.
ID
Support
Next Generation Sequencing of 134 Children with Autism Spectrum Disorder and Regression
ASD
Developmental regression, epilepsy/seizures
Support
Rare Variant Burden and Behavioral Phenotypes in Children with Autism in Slovakia
ASD
Support
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.
ID
Epilepsy, ASD
Support
Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly.
Microcephaly
DD, ID
Support
Comprehensive genome sequencing analyses identify novel gene mutations and copy number variations associated with infant developmental delay or intellectual disability (DD/ID)
DD, ID
Stereotypy
Support
Genomic insights from a deeply phenotyped highly consanguineous neurodevelopmental disorders cohort
DD, epilepsy/seizures
ASD or autistic behavior, ID
Support
A mutation in the rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males.
ID
Support
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
ASD
Rett syndrome
Support
Report of a novel missense mutation in the MECP2 gene in a middle-aged man with intellectual disability syndrome
DD, ID, epilepsy/seizures
Support
Decoding complex inherited phenotypes in rare disorders: the DECIPHERD initiative for rare undiagnosed diseases in Chile
ASD, ID
Support
Genetic Traces in Autism Spectrum Disorders: A Whole Exome Sequencing Study from Türkiye
ASD
DD, epilepsy/seizures
Support
Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders.
ID, epilepsy
ADHD
Support
Diagnostic Yields of Trio-WES Accompanied by CNVseq for Rare Neurodevelopmental Disorders.
DD, ID
Support
Yield of Genetic Testing in Children with Autism Spectrum Disorder - A Single-Center Experience
ASD
DD, epilepsy/seizures
Support
Identification of MeCP2 mutations in a series of females with autistic disorder.
ASD
Support
Targeted sequencing and functional analysis reveal brain-size-related genes and their networks in autism spectrum disorders.
ASD
Support
Genetic care in geographically isolated small island communities: 8 years of experience in the Dutch Caribbean
DD
Support
Diagnostic findings and yield of investigations for children with developmental regression
Developmental regression
ASD, ID
Support
The MECP2 variant c.925C>T (p.Arg309Trp) causes intellectual disability in both males and females without classic features of Rett syndrome.
ID
Epilepsy/seizures
Support
Targeted re-sequencing for early diagnosis of genetic causes of childhood epilepsy: the Italian experience from the 'beyond epilepsy' project
DD, epilepsy/seizures
Autistic behavior
Support
Mutation of MeCP2 at T158M Leads to Distinct Molecular and Phenotypic Abnormalities in Male and Female Mice
Rett syndrome
ASD
Support
A partial MECP2 duplication in a mildly affected adult male: a putative role for the 3' untranslated region in the MECP2 duplication phenotype.
ASD
ADHD, epilepsy
Support
Both rare and common genetic variants contribute to autism in the Faroe Islands.
ASD
Support
Impaired Neurodevelopmental Genes in Slovenian Autistic Children Elucidate the Comorbidity of Autism With Other Developmental Disorders
DD, ID
Autistic behavior, stereotypy
Support
The Genetic Puzzle of Cerebral Palsy: Results of a Monocentric Study
Cerebral palsy
DD, ID, epilepsy/seizures, stereotypy
Support
Preserved speech variant is allelic of classic Rett syndrome.
Rett syndrome
Support
Asperger syndrome and early-onset schizophrenia associated with a novel MECP2 deleterious missense variant.
ASD
SCZ
Support
Genome sequencing of 320 Chinese children with epilepsy: a clinical and molecular study
ASD, DD, epilepsy/seizures
Support
Purkinje-cell-specific MeCP2 deficiency leads to motor deficits and autistic-like behavior due to aberrations in PTP1B-TrkB-SK signaling
Rett syndrome
Support
Whole-Exome Sequencing Identifies Novel Genetic Variants Associated with Unexplained Neurodevelopmental Disorders in Children
ASD
Support
Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.
ID
Support
The Clinical and Genetic Features of Co-occurring Epilepsy and Autism Spectrum Disorder in Chinese Children.
ASD, epilepsy/seizures
Support
Genetic variants and phenotypic data curated for the CAGI6 intellectual disability panel challenge
ID
ASD/autistic traits, epilepsy/seizures
Support
Study of MECP2 gene in Rett syndrome variants and autistic girls.
Rett syndrome
ASD
Support
Identification of autism-related MECP2 mutations by whole-exome sequencing and functional validation.
ASD
Support
Identification of Region-Specific Cytoskeletal and Molecular Alterations in Astrocytes of Mecp2 Deficient Animals
Rett syndrome
Support
The utility of exome sequencing in diagnosing pediatric neurodevelopmental disorders in a highly consanguineous population
DD
ASD, epilepsy/seizures
Support
Comprehensive molecular testing in patients with high functioning autism spectrum disorder.
ASD
Support
Next-Generation Sequencing in Korean Children With Autism Spectrum Disorder and Comorbid Epilepsy
ASD
Epilepsy/seizures, Rett syndrome
Support
Prospective study to analyze the yield and clinical impact of trio exome sequencing in 137 Indian children with autism spectrum disorder
ASD
DD
Support
Oligogenic heterozygosity in individuals with high-functioning autism spectrum disorders.
ASD
Support
Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model.
ASD
Support
Clinical Targeted Panel Sequencing Analysis in Clinical Evaluation of Children with Autism Spectrum Disorder in China
ASD
Support
Genetic Diagnostic Yield in Autism Spectrum Disorder (ASD) and Epilepsy Phenotypes in Children with Genetically Defined ASD
ASD
ADHD, DD, ID, epilepsy/seizures
Support
Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes.
Epilepsy/seizures
Rett syndrome
Support
Comorbidities associated with genetic abnormalities in children with intellectual disability
ASD, DD/ID
Support
MeCP2 represses the activity of topoisomerase IIβ in long neuronal genes
Support
Using the linear references from the pangenome to discover missing autism variants
ASD
Support
De novo mutations in schizophrenia implicate chromatin remodeling and support a genetic overlap with autism and intellectual disability.
SCZ
Support
Comprehensive Analysis of Rare Variants of 101 Autism-Linked Genes in a Hungarian Cohort of Autism Spectrum Disorder Patients.
ASD
Rett syndrome
Support
Structural variant allelic heterogeneity in MECP2 duplication syndrome provides insight into clinical severity and variability of disease expression
Lubs-type X-linked syndromic intellectual developm
Support
Neurodevelopmental disorders in males related to the gene causing Rett syndrome in females (MECP2).
ID
Support
Genomic diagnosis for children with intellectual disability and/or developmental delay.
ASD, ID, epilepsy/seizures
Support
Astrocytic Gap Junctions Contribute to Aberrant Neuronal Synchronization in a Mouse Model of MeCP2 Duplication Syndrome
MECP2 duplication syndrome
Support
Genetic and phenotypic landscape of pediatric-onset epilepsy in 142 Indian families: Counseling and therapeutic implications
Epilepsy/seizures
DD
Support
Next-generation sequencing using a pre-designed gene panel for the molecular diagnosis of congenital disorders in pediatric patients.
DD, epilepsy/seizures
Developmental regression, hypotonia
Support
Phenotypic and genetic spectrum of epilepsy with myoclonic atonic seizures
ID, epilepsy/seizures
Support
Diagnostic yield of clinical exome sequencing in 868 children with neurodevelopmental disorders
Autistic behavior
DD, epilepsy/seizures, stereotypy
Support
A MECP2 missense mutation within the MBD domain in a Brazilian male with autistic disorder.
ASD
Support
Mosaic MECP2 variants in males with classical Rett syndrome features, including stereotypical hand movements.
Rett syndrome
Support
Genetic and Phenotype Analysis of a Chinese Cohort of Infants and Children With Epilepsy
Epilepsy/seizures
ASD, DD, ID
Support
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings
DD
ID, epilepsy/seizures, stereotypy
Support
Clinical exome sequencing: results from 2819 samples reflecting 1000 families.
Rett syndrome
DD, ID, hypotonia
Support
De novo variants in neurodevelopmental disorders-experiences from a tertiary care center
DD, epilepsy/seizures
Support
Clinical Utility of Proband Only Clinical Exome Sequencing in Neurodevelopmental Disorders
ASD
ADHD, DD, ID, epilepsy/seizures
Support
Multilayered genetic dissection of autism: insights from whole-exome sequencing, molecular karyotyping, and cytogenetic analyses in a small Turkish cohort
ASD
Support
Using whole-exome sequencing to identify inherited causes of autism.
ASD
Support
Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population.
DD, ID
Epilepsy/seizures, ASD, stereotypies
Support
Unveiling genetic insights: Array-CGH and WES discoveries in a cohort of 122 children with essential autism spectrum disorder
ASD
Support
In-frame deletion in MECP2 causes mild nonspecific mental retardation.
ID
Support
Mapping autosomal recessive intellectual disability: combined microarray and exome sequencing identifies 26 novel candidate genes in 192 consanguin...
ID
Support
Autism spectrum disorder and comorbid neurodevelopmental disorders (ASD-NDDs): Clinical and genetic profile of a pediatric cohort
ASD
DD, ID, epilepsy/seizures
Support
Exome sequencing improves the molecular diagnostics of paediatric unexplained neurodevelopmental disorders
DD, ID
Support
MECP2 missense mutations outside the canonical MBD and TRD domains in males with intellectual disability.
ID
ASD
Support
Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use.
ASD
Support
Exome Study of Single Nucleotide Variations in Patients with Syndromic and Non-Syndromic Autism Reveals Potential Candidate Genes for Diagnostics and Novel Single Nucleotide Variants
ASD
DD, epilepsy/seizures
Highly Cited
MeCP2 is a transcriptional repressor with abundant binding sites in genomic chromatin.
Highly Cited
Transcriptional repression by the methyl-CpG-binding protein MeCP2 involves a histone deacetylase complex.
Recent Recommendation
MeCP2 deficiency disrupts axonal guidance, fasciculation, and targeting by altering Semaphorin 3F function.
Recent Recommendation
MeCP2 binds to 5hmC enriched within active genes and accessible chromatin in the nervous system.
Recent Recommendation
Oligodendrocyte lineage cells contribute unique features to Rett syndrome neuropathology.
Recent Recommendation
Reciprocal co-regulation of EGR2 and MECP2 is disrupted in Rett syndrome and autism.
ASD, RTT
Recent Recommendation
MeCP2 regulates telencephalic development in human cerebral organoids
Rett syndrome
ASD
Recent Recommendation
Overexpression of methyl-CpG binding protein 2 impairs T(H)1 responses.
Recent Recommendation
Transcriptional regulation of the MET receptor tyrosine kinase gene by MeCP2 and sex-specific expression in autism and Rett syndrome.
Recent Recommendation
MECP2 genomic structure and function: insights from ENCODE.
Recent Recommendation
MECP2 directly interacts with RNA polymerase II to modulate transcription in human neurons
Rett syndrome
Recent Recommendation
Genome-wide activity-dependent MeCP2 phosphorylation regulates nervous system development and function.
Recent Recommendation
Activity-dependent phosphorylation of MeCP2 threonine 308 regulates interaction with NCoR.
Recent Recommendation
Deletion of Mecp2 in Sim1-expressing neurons reveals a critical role for MeCP2 in feeding behavior, aggression, and the response to stress.
Recent Recommendation
Disruption of MeCP2-TCF20 complex underlies distinct neurodevelopmental disorders
Rett syndrome
Recent Recommendation
L1 retrotransposition in neurons is modulated by MeCP2.
Recent Recommendation
Rett syndrome mutations abolish the interaction of MeCP2 with the NCoR/SMRT co-repressor.
Recent Recommendation
Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurologic...
MECP2 duplication syndrome
Stereotypic movements
Recent Recommendation
Dysfunction in GABA signalling mediates autism-like stereotypies and Rett syndrome phenotypes.
Recent Recommendation
An AT-hook domain in MeCP2 determines the clinical course of Rett syndrome and related disorders.
Recent Recommendation
A MECP2 mutation in a highly conserved aminoacid causing mental retardation in a male.
ID
Recent Recommendation
GluD1 is a common altered player in neuronal differentiation from both MECP2-mutated and CDKL5-mutated iPS cells.
Recent Recommendation
Neuronal MeCP2 is expressed at near histone-octamer levels and globally alters the chromatin state.
Recent Recommendation
Bisphenol A delays the perinatal chloride shift in cortical neurons by epigenetic effects on the Kcc2 promoter.
Recent Recommendation
Increased binding of MeCP2 to the GAD1 and RELN promoters may be mediated by an enrichment of 5-hmC in autism spectrum disorder (ASD) cerebellum.
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN157R005
frameshift_variant
c.694insT
Stop after 27 out of frame AA's
Unknown
Not maternal
Simplex
GEN157R006
missense_variant
c.316C>T
p.Arg106Trp
Unknown
Not maternal
Multiplex
GEN157R018
stop_gained
c.1216G>A
p.Glu406Lys
Familial
Maternal
Multi-generational
GEN157R019
missense_variant
c.419C>T
p.Ala140Val
Familial
Maternal
Multi-generational
GEN157R027
missense_variant
c.499C>T
p.Arg167Trp
Familial
Maternal
Multiplex
GEN157R036
inframe_deletion
c.1161_1400del
p.Pro388_Glu467del
Familial
Maternal
GEN157R047
missense_variant
c.719C>G
p.Thr240Ser
Familial
Maternal
Multiplex
GEN157R060
frameshift_variant
c.1200_1222del
p.Pro401ArgfsTer8
De novo
Simplex
GEN157R074
frameshift_variant
c.1158_1198del
p.Glu386AspfsTer5
De novo
Simplex
GEN157R076
frameshift_variant
c.1165_1233del69ins21
p.Pro389_Pro411del23ins7
De novo
Simplex
GEN157R079
stop_gained
c.763C>T(c.799C>T)
p.Arg255Ter (p.Arg267Ter)
De novo
Simplex
GEN157R080
missense_variant
c.473C>T(c.509C>T)
p.Thr158Met (p.Thr170Met)
De novo
Simplex
GEN157R081
missense_variant
c.433C>T
p.Arg145Cys
De novo
Simplex
GEN157R084a
complex_structural_alteration
c.954A>T
p.Glu318Asp
Familial
Maternal
Multi-generational
GEN157R084b
complex_structural_alteration
NM_004992.3:c.1097_1235delins50bp
p.Arg354_Val412delins41
Familial
Maternal
Multi-generational
GEN157R091
missense_variant
c.554G>T
p.Gly185Val
Familial
Maternal
Multiplex
GEN157R092
missense_variant
c.499C>T
p.Arg167Trp
Familial
Maternal
Multiplex
GEN157R098
missense_variant
c.925C>T
p.Gln309Ter
Familial
Maternal
GEN157R101
frameshift_variant
GGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGT>G
p.Pro398fsTer
Familial
Maternal
GEN157R111
missense_variant
c.491G>T
p.Ser164Ile
De novo (germline mosaicism)
Multiplex (dizygotic twins)
GEN157R114
stop_gained
c.1447G>T;c.1483G>T
p.Glu483Ter;p.Glu495Ter
Familial
Maternal
Multiplex
GEN157R116
frameshift_variant
c.1167_1200del
p.Pro390AlafsTer8
Unknown
Simplex
GEN157R119
missense_variant
c.569G>A
p.Arg190His
Familial
Multi-generational
GEN157R121
missense_variant
c.916C>T
p.Arg306Ter
Familial
Maternal
Multi-generational
GEN157R122
missense_variant
c.397C>T
p.Arg133Cys
Familial
Maternal
Multi-generational
GEN157R136
frameshift_variant
c.1309dup
p.Glu437GlyfsTer11
De novo
GEN157R140
frameshift_variant
c.746del
p.Gly249ValfsTer11
Familial
Maternal
Simplex
GEN157R144
frameshift_variant
c.1138_1144del
p.His380ThrfsTer39
Familial
Maternal
Multiplex
GEN157R175
frameshift_variant
c.1193_1199del
p.Leu398HisfsTer21
Familial
Maternal
GEN157R181
frameshift_variant
c.1157_1185del
p.Glu386AlafsTer9
Unknown
Unknown
GEN157R185
frameshift_variant
c.1158_1164del
p.Ser387ArgfsTer32
Unknown
Unknown
GEN157R195
stop_gained
c.1198_1239delinsTGAGGACTTGAG
p.Pro400_Ser413delinsTer
De novo
GEN157R259
frameshift_variant
c.1122del
p.Lys375ArgfsTer46
Familial
Maternal
Multiplex
GEN157R269
frameshift_variant
c.148_152del
p.Glu50ArgfsTer5
Unknown
Simplex
GEN157R274
frameshift_variant
c.1197_1222delinsAGC
p.Pro400AlafsTer9
Unknown
GEN157R324
frameshift_variant
c.1225_1226del
p.Ser409GlnfsTer26
De novo
Simplex
GEN157R327
missense_variant
c.1409G>A
p.Arg470His
Familial
Maternal
Simplex
GEN157R337
missense_variant
c.473C>T
p.Thr158Met
Unknown
Simplex
GEN157R338
missense_variant
c.316C>T
p.Arg106Trp
Unknown
Simplex
GEN157R339
missense_variant
c.1231A>G
p.Ser411Gly
Familial
Maternal
Unknown
GEN157R340
stop_gained
c.1208dup
p.Glu404Ter
Familial
Maternal
GEN157R353
frameshift_variant
c.44_45insCGAGG
p.Gly16GlufsTer30
De novo
Simplex
Common
No Common Variants Available