Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267607048
rs267607048
G 0.700 GeneticVariation CLINVAR Noonan syndrome due to a SHOC2 mutation presenting with fetal distress and fatal hypertrophic cardiomyopathy in a premature infant. 22528146

2012

dbSNP: rs28934906
rs28934906
A 0.700 GeneticVariation CLINVAR Identification and characterization of novel sequence variations in MECP2 gene in Rett syndrome patients. 20031356

2010

dbSNP: rs267607048
rs267607048
G 0.700 GeneticVariation CLINVAR Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair. 19684605

2009

dbSNP: rs28934906
rs28934906
A 0.700 GeneticVariation CLINVAR Genotype-phenotype correlation in Brazillian Rett syndrome patients. 19722030

2009

dbSNP: rs28934906
rs28934906
A 0.700 GeneticVariation CLINVAR Homozygosity for MECP2 gene in a girl with classical Rett syndrome. 17881312

2008

dbSNP: rs28934906
rs28934906
A 0.700 GeneticVariation CLINVAR MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome. 17089071

2007

dbSNP: rs80338796
rs80338796
A 0.700 CausalMutation CLINVAR Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. 17603483

2007

dbSNP: rs80338796
rs80338796
A 0.700 CausalMutation CLINVAR Germline gain-of-function mutations in RAF1 cause Noonan syndrome. 17603482

2007

dbSNP: rs180177035
rs180177035
C 0.700 CausalMutation CLINVAR Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome. 16474404

2006

dbSNP: rs180177035
rs180177035
C 0.700 CausalMutation CLINVAR Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome. 16439621

2006

dbSNP: rs28934906
rs28934906
A 0.700 GeneticVariation CLINVAR Prenatal diagnosis in Rett syndrome. 12065946

2003

dbSNP: rs28934906
rs28934906
A 0.700 GeneticVariation CLINVAR Chronic osteomyelitis in patients with sickle cell disease. 10944834

2000

dbSNP: rs142698837
rs142698837
TG
A 0.700 CausalMutation CLINVAR

dbSNP: rs1554032789
rs1554032789
A 0.700 CausalMutation CLINVAR

dbSNP: rs28934908
rs28934908
0.050 GeneticVariation BEFREE The p.Ala140Val mutation is recurrent, as it was already described in 4 families with X-linked mental retardation and in three sporadic male patients with intellectual disability. 27465203

2016

dbSNP: rs28934908
rs28934908
0.050 GeneticVariation BEFREE In this study, DNA samples from 363 male individuals with syndromic and non-syndromic mental retardation and other psychiatric diseases were screened for A140V (419C>T) mutation in the MECP2 gene, considered the most frequent MECP2 mutation in males. 15814190

2005

dbSNP: rs28934908
rs28934908
0.050 GeneticVariation BEFREE The authors recently described a novel A140V MECP2 missense mutation in an Italian family with X-linked semidominant mental retardation. 11805248

2002

dbSNP: rs28934908
rs28934908
0.050 GeneticVariation BEFREE This strongly suggests that A140V is a hot spot of mutation resulting in moderate to severe MR in males. 11885030

2002

dbSNP: rs28934908
rs28934908
0.050 GeneticVariation BEFREE Identification of a family with nonspecific mental retardation (MRX79) with the A140V mutation in the MECP2 gene: is there a need for routine screening? 12325019

2002

dbSNP: rs121918368
rs121918368
0.030 GeneticVariation BEFREE The nonsense mutation, R419X, causes deletion of 24 amino acids at the C-terminus of CRBN, leading to mild ID. 26188093

2015

dbSNP: rs121918368
rs121918368
0.030 GeneticVariation BEFREE We also show that the level of the mutant protein can be restored by a treatment of cells with a clinically utilized proteasome inhibitor, suggesting that this agent may be useful for the treatment of mental retardation associated with the CRBN R419X mutation. 23983124

2013

dbSNP: rs121918368
rs121918368
0.030 GeneticVariation BEFREE Dysregulation of large-conductance Ca2+-activated K+ channel expression in nonsyndromal mental retardation due to a cereblon p.R419X mutation. 18414909

2008

dbSNP: rs121434613
rs121434613
0.020 GeneticVariation BEFREE These mutations include two "severe" G424R and K389N variants (responsible for severe ID and CCA) and the "mild" A365E variant (responsible for nonsyndromic mild ID). 31843706

2020

dbSNP: rs745756308
rs745756308
0.020 GeneticVariation BEFREE Leucine 208 in human histamine N-methyltransferase emerges as a hotspot for protein stability rationalizing the role of the L208P variant in intellectual disability. 27769936

2017

dbSNP: rs61748420
rs61748420
0.020 GeneticVariation BEFREE Targeted next-generation sequencing of a panel of intellectual disability related genes was performed on two unrelated male patients, and two missense variants in MECP2 were identified (p.Gly185Val and p.Arg167Trp). 26490184

2016