Variant Gene Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519389
rs1057519389
0.700 CausalMutation CLINVAR A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3. 28017372

2017

dbSNP: rs1057518699
rs1057518699
0.700 GeneticVariation CLINVAR X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes. 25644381

2016

dbSNP: rs1057519389
rs1057519389
0.700 CausalMutation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868

2015

dbSNP: rs80356616
rs80356616
0.020 GeneticVariation BEFREE We report the response to sulfonylurea treatment in a boy with neonatal diabetes and marked developmental delay resulting from the KCNJ11 mutation V59M. 17047922

2007

dbSNP: rs80356616
rs80356616
0.020 GeneticVariation BEFREE In contrast, developmental delay in addition to diabetes was seen in four of five probands with the V59M mutation and two of four with the R201C mutation. 16609879

2006

dbSNP: rs879255597
rs879255597
0.010 GeneticVariation BEFREE We identified a novel de novo heterozygous missense mutation in the NEDD4L gene (NM_015277: c.2617G>A; p.Glu873Lys) through whole-exome sequencing in a 3-year-old girl showing severe global developmental delay, infantile spasms, cleft palate, periventricular nodular heterotopia and polymicrogyria. 28515470

2018

dbSNP: rs2076101
rs2076101
0.010 GeneticVariation BEFREE A common six-Single Nucleotide Polymorphism (SNP) haplotype of A3F tagged by a codon-changing variant (p. I231V, with allele (V) frequency of 48% in European Americans) was associated with significantly lower set-point viral load and slower rate of progression to AIDS (Relative Hazards (RH) = 0.71, 95% CI: 0.56, 0.91) and delayed development of pneumocystis pneumonia (PCP) (RH = 0.53, 95% CI: 0.37-0.76). 26942578

2016

dbSNP: rs752390804
rs752390804
0.010 GeneticVariation BEFREE As shown for past variants in this region, T546A impairs SH2B1β enhancement of nerve growth factor-induced neurite outgrowth, and the individual with the T546A variant exhibits mild developmental delay. 24971614

2014

dbSNP: rs79184941
rs79184941
0.010 GeneticVariation BEFREE A S252W mutation of fibroblast growth factor receptor 2 (FGFR2), which is responsible for nearly two-thirds of Apert syndrome (AS) cases, causes retarded development of the skeleton and skull malformation resulting from premature fusion of the craniofacial sutures. 24489893

2014

dbSNP: rs80356730
rs80356730
0.010 GeneticVariation BEFREE Certain mutant forms of TDP-43, such as M337V, are associated with increased low molecular weight (LMW) fragments compared to wild-type (WT) TDP-43 and cause neuronal apoptosis and developmental delay in chick embryos. 22029574

2012

dbSNP: rs113994097
rs113994097
0.010 GeneticVariation BEFREE Four children, 2 related and 2 unrelated, with the novel p.P1073L mutation (all patients) and either the p.A467T (2 patients), p.G848S (1 patient), or p.W748S (1 patient) mutation presented with psychomotor delay, encephalopathy, and liver failure. 20142534

2010

dbSNP: rs113994098
rs113994098
0.010 GeneticVariation BEFREE Four children, 2 related and 2 unrelated, with the novel p.P1073L mutation (all patients) and either the p.A467T (2 patients), p.G848S (1 patient), or p.W748S (1 patient) mutation presented with psychomotor delay, encephalopathy, and liver failure. 20142534

2010

dbSNP: rs267606959
rs267606959
0.010 GeneticVariation BEFREE Four children, 2 related and 2 unrelated, with the novel p.P1073L mutation (all patients) and either the p.A467T (2 patients), p.G848S (1 patient), or p.W748S (1 patient) mutation presented with psychomotor delay, encephalopathy, and liver failure. 20142534

2010

dbSNP: rs179363901
rs179363901
0.010 GeneticVariation BEFREE The missense mutation, p.Ala2Val, leads to severe developmental delay, microcephaly, no language, severe epilepsy, and cognitive impairment. 19034540

2009

dbSNP: rs104894884
rs104894884
0.010 GeneticVariation BEFREE Two novel p.Gly8Arg and p.Arg37Ser hemizygous mutations in NDUFA1 were identified in two unrelated male patients presenting with Leigh's syndrome and with myoclonic epilepsy and developmental delay, respectively. 17262856

2007

dbSNP: rs104894885
rs104894885
0.010 GeneticVariation BEFREE Two novel p.Gly8Arg and p.Arg37Ser hemizygous mutations in NDUFA1 were identified in two unrelated male patients presenting with Leigh's syndrome and with myoclonic epilepsy and developmental delay, respectively. 17262856

2007

dbSNP: rs193929358
rs193929358
0.010 GeneticVariation BEFREE Here we describe a patient with severe PNDM, which includes developmental delay and epilepsy, in addition to neonatal diabetes (developmental delay, epilepsy, and neonatal diabetes [DEND]), due to a G334D mutation in the Kir6.2 subunit of K(ATP) channel. 17259376

2007

dbSNP: rs80356611
rs80356611
0.010 GeneticVariation BEFREE We investigated the functional effects this mutation and another at the same residue (R50P) that led to PNDM in association with developmental delay. 16731833

2007

dbSNP: rs34767364
rs34767364
NBN
0.010 GeneticVariation BEFREE Here, we describe for the first time a severe form of NBS without chromosomal instability in monozygotic twin brothers with profound congenital microcephaly and developmental delay who are compound heterozygotes for the 657del5 and 643C>T(R215W) NBS1 mutations. 16033915

2006

dbSNP: rs80356624
rs80356624
0.010 GeneticVariation BEFREE Recent studies have shown that heterozygous mutations in KCNJ11, which encodes Kir6.2, the pore-forming subunit of the ATP-sensitive potassium (K(ATP)) channel, cause permanent neonatal diabetes either alone (R201C, R201H) or in association with developmental delay, muscle weakness and epilepsy (V59G,V59M). 16087682

2006

dbSNP: rs104894421
rs104894421
0.010 GeneticVariation BEFREE When combined with the otherwise mild R278H mutation, the activity is reduced to a level similar to other LIG4 patients who display immunodeficiency and developmental delay. 15333585

2005

dbSNP: rs193929353
rs193929353
0.010 GeneticVariation BEFREE However, the I296L mutation also results in developmental delay, muscle weakness and epilepsy. 15864298

2005

dbSNP: rs121913105
rs121913105
0.010 GeneticVariation BEFREE A novel skeletal dysplasia with developmental delay and acanthosis nigricans is caused by a Lys650Met mutation in the fibroblast growth factor receptor 3 gene. 10053006

1999