Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28934908
rs28934908
0.020 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
0.020 GeneticVariation BEFREE In addition to data published by others, this suggests that A140V is a recurrent mutation (and not a polymorphism) found in patients with X-linked mental retardation. 12325019

2002

dbSNP: rs587777605
rs587777605
0.010 GeneticVariation BEFREE We report a novel missense mutation (c.1040G>A, p.Arg347Gln) in MID2, which encodes ubiquitin ligase E3, as the likely cause of X-linked mental retardation in a large kindred. 24115387

2014

dbSNP: rs121918521
rs121918521
0.010 GeneticVariation BEFREE Another synonymous mutation in the same exon, c.321C>T (p.D107D), has a similar molecular defect of exon inclusion and causes X-linked mental retardation Hedera type (MRXSH). 23595882

2013

dbSNP: rs121918524
rs121918524
0.010 GeneticVariation BEFREE Importantly, a mutant PHF8 (phenylalanine at position 279 to serine) identified in the XLMR patients is defective in enzymatic activity, indicating that the loss of histone demethylase activity is causally linked with the onset of disease. 20548336

2010

dbSNP: rs137852351
rs137852351
0.010 GeneticVariation BEFREE We identified a genomic deletion (0.4 Mb) involving the entire GRIA3 (encoding iGluR3) by using an X-array comparative genomic hybridization (CGH) and four missense variants (G833R, M706T, R631S, and R450Q) in functional domains of iGluR3 by sequencing 400 males with X-linked mental retardation (XLMR). 17989220

2007

dbSNP: rs368568228
rs368568228
0.010 GeneticVariation BEFREE We identified a genomic deletion (0.4 Mb) involving the entire GRIA3 (encoding iGluR3) by using an X-array comparative genomic hybridization (CGH) and four missense variants (G833R, M706T, R631S, and R450Q) in functional domains of iGluR3 by sequencing 400 males with X-linked mental retardation (XLMR). 17989220

2007

dbSNP: rs121918362
rs121918362
0.010 GeneticVariation BEFREE These genes were analyzed in 28 families with nonsyndromic X-linked mental retardation (XLMR) that show linkage to Xp11.3; the analysis revealed a nonsense mutation, p.E118X, in the coding sequence of ZNF674 in one family. 16385466

2006

dbSNP: rs1433911627
rs1433911627
0.010 GeneticVariation BEFREE These genes were analyzed in 28 families with nonsyndromic X-linked mental retardation (XLMR) that show linkage to Xp11.3; the analysis revealed a nonsense mutation, p.E118X, in the coding sequence of ZNF674 in one family. 16385466

2006

dbSNP: rs866776696
rs866776696
0.010 GeneticVariation BEFREE These genes were analyzed in 28 families with nonsyndromic X-linked mental retardation (XLMR) that show linkage to Xp11.3; the analysis revealed a nonsense mutation, p.E118X, in the coding sequence of ZNF674 in one family. 16385466

2006

dbSNP: rs28934904
rs28934904
0.010 GeneticVariation BEFREE The R133C mutation has been detected in female patients with classic and preserved speech variant RTT, but not in males with non-specific XLMR. 16122633

2005

dbSNP: rs145438966
rs145438966
0.010 GeneticVariation BEFREE Two missense variants (p.V629I and p.M560V) that were not highly conserved and were not associated with increased creatine : creatinine ratio, one translational silent variant (p.L472), and 10 intervening sequence variants or untranslated region variants (IVS6+9C-->T, IVS7-151_152delGA, IVS7-99C-->A, IVS8-35G-->A, IVS8+28C-->T, IVS10-18C-->T, IVS11+21G-->A, IVS12+15C-->T, *207G-->C, IVS12+32C-->A) were found only in the XLMR panel but should be considered as unclassified variants or as a polymorphism (p.M560V). 15154114

2004

dbSNP: rs781899045
rs781899045
0.010 GeneticVariation BEFREE Two missense variants (p.V629I and p.M560V) that were not highly conserved and were not associated with increased creatine : creatinine ratio, one translational silent variant (p.L472), and 10 intervening sequence variants or untranslated region variants (IVS6+9C-->T, IVS7-151_152delGA, IVS7-99C-->A, IVS8-35G-->A, IVS8+28C-->T, IVS10-18C-->T, IVS11+21G-->A, IVS12+15C-->T, *207G-->C, IVS12+32C-->A) were found only in the XLMR panel but should be considered as unclassified variants or as a polymorphism (p.M560V). 15154114

2004

dbSNP: rs28935498
rs28935498
0.010 GeneticVariation BEFREE Non-syndromic X-linked mental retardation associated with a missense mutation (P312L) in the FGD1 gene. 11940089

2002