Gene: MECP2 ×
Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28934904
rs28934904
MECP2
A 0.700 CausalMutation CLINVAR The molecular basis of variable phenotypic severity among common missense mutations causing Rett syndrome. 26647311

2016
dbSNP: rs28934906
rs28934906
MECP2
A 0.700 CausalMutation CLINVAR The molecular basis of variable phenotypic severity among common missense mutations causing Rett syndrome. 26647311

2016
dbSNP: rs28934908
rs28934908
MECP2
A 0.700 CausalMutation CLINVAR Expanding phenotype of p.Ala140Val mutation in MECP2 in a 4 generation family with X-linked intellectual disability and spasticity. 27465203

2016
dbSNP: rs28935468
rs28935468
MECP2
A 0.700 CausalMutation CLINVAR The molecular basis of variable phenotypic severity among common missense mutations causing Rett syndrome. 26647311

2016
dbSNP: rs61748404
rs61748404
MECP2
C 0.700 CausalMutation CLINVAR From Function to Phenotype: Impaired DNA Binding and Clustering Correlates with Clinical Severity in Males with Missense Mutations in MECP2. 27929079

2016
dbSNP: rs61748420
rs61748420
MECP2
A 0.700 GeneticVariation CLINVAR From Function to Phenotype: Impaired DNA Binding and Clustering Correlates with Clinical Severity in Males with Missense Mutations in MECP2. 27929079

2016
dbSNP: rs61748420
rs61748420
MECP2
A 0.700 GeneticVariation CLINVAR MECP2 missense mutations outside the canonical MBD and TRD domains in males with intellectual disability. 26490184

2016
dbSNP: rs61751362
rs61751362
MECP2
A 0.700 CausalMutation CLINVAR Apoptotic Activity of MeCP2 Is Enhanced by C-Terminal Truncating Mutations. 27442528

2016
dbSNP: rs61751362
rs61751362
MECP2
A 0.700 CausalMutation CLINVAR Altered microtubule dynamics and vesicular transport in mouse and human MeCP2-deficient astrocytes. 26604147

2016
dbSNP: rs28934904
rs28934904
MECP2
A 0.700 CausalMutation CLINVAR Impact of Rett Syndrome Mutations on MeCP2 MBD Stability. 26418480

2015
dbSNP: rs28934908
rs28934908
MECP2
A 0.700 CausalMutation CLINVAR Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability. 26350204

2015
dbSNP: rs28934908
rs28934908
MECP2
A 0.700 CausalMutation CLINVAR Impact of Rett Syndrome Mutations on MeCP2 MBD Stability. 26418480

2015
dbSNP: rs61748390
rs61748390
MECP2
C 0.700 CausalMutation CLINVAR Impact of Rett Syndrome Mutations on MeCP2 MBD Stability. 26418480

2015
dbSNP: rs61748404
rs61748404
MECP2
C 0.700 CausalMutation CLINVAR Impact of Rett Syndrome Mutations on MeCP2 MBD Stability. 26418480

2015
dbSNP: rs61748408
rs61748408
MECP2
C 0.700 CausalMutation CLINVAR Impact of Rett Syndrome Mutations on MeCP2 MBD Stability. 26418480

2015
dbSNP: rs61748420
rs61748420
MECP2
A 0.700 GeneticVariation CLINVAR Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability. 26350204

2015
dbSNP: rs61749721
rs61749721
MECP2
A 0.700 CausalMutation CLINVAR Rett syndrome like phenotypes in the R255X Mecp2 mutant mouse are rescued by MECP2 transgene. 25634563

2015
dbSNP: rs267608469
rs267608469
MECP2
A 0.700 CausalMutation CLINVAR Subclinical inflammatory status in Rett syndrome. 24511209

2014
dbSNP: rs28934908
rs28934908
MECP2
A 0.700 CausalMutation CLINVAR Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders. 25473036

2014
dbSNP: rs28935468
rs28935468
MECP2
A 0.700 CausalMutation CLINVAR Rett-causing mutations reveal two domains critical for MeCP2 function and for toxicity in MECP2 duplication syndrome mice. 24970834

2014
dbSNP: rs28935468
rs28935468
MECP2
A 0.700 CausalMutation CLINVAR Subclinical inflammatory status in Rett syndrome. 24511209

2014
dbSNP: rs61748421
rs61748421
MECP2
A 0.700 CausalMutation CLINVAR Subclinical inflammatory status in Rett syndrome. 24511209

2014
dbSNP: rs61748421
rs61748421
MECP2
A 0.700 CausalMutation CLINVAR Respiratory phenotypes are distinctly affected in mice with common Rett syndrome mutations MeCP2 T158A and R168X. 24626160

2014
dbSNP: rs61748421
rs61748421
MECP2
A 0.700 CausalMutation CLINVAR Characterization of the MeCP2R168X knockin mouse model for Rett syndrome. 25541993

2014
dbSNP: rs1557135004
rs1557135004
MECP2
TA 0.700 CausalMutation CLINVAR Detection of rarely identified multiple mutations in MECP2 gene do not contribute to enhanced severity in Rett syndrome. 23696494

2013