Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909231
rs121909231
T 0.700 CausalMutation CLINVAR

dbSNP: rs138615487
rs138615487
0.010 GeneticVariation BEFREE First, scrutiny of exomes from 9624 patients recruited by the Deciphering Developmental Disorders (DDDs) study uncovered six dominantly-acting mutations (p.R97L; p.Y136C; p.Y136H, p.N145I, p.S244C; p.G248R) of which five arose de novo, and three patients with compound-heterozygous variants (p.R210*/p.V579M; p.R210*/p.D531N; c.1149+1G>T/p.R688C). 30859559

2019

dbSNP: rs150419186
rs150419186
0.010 GeneticVariation BEFREE First, scrutiny of exomes from 9624 patients recruited by the Deciphering Developmental Disorders (DDDs) study uncovered six dominantly-acting mutations (p.R97L; p.Y136C; p.Y136H, p.N145I, p.S244C; p.G248R) of which five arose de novo, and three patients with compound-heterozygous variants (p.R210*/p.V579M; p.R210*/p.D531N; c.1149+1G>T/p.R688C). 30859559

2019

dbSNP: rs587777178
rs587777178
0.010 GeneticVariation BEFREE First, scrutiny of exomes from 9624 patients recruited by the Deciphering Developmental Disorders (DDDs) study uncovered six dominantly-acting mutations (p.R97L; p.Y136C; p.Y136H, p.N145I, p.S244C; p.G248R) of which five arose de novo, and three patients with compound-heterozygous variants (p.R210*/p.V579M; p.R210*/p.D531N; c.1149+1G>T/p.R688C). 30859559

2019

dbSNP: rs765416902
rs765416902
0.010 GeneticVariation BEFREE First, scrutiny of exomes from 9624 patients recruited by the Deciphering Developmental Disorders (DDDs) study uncovered six dominantly-acting mutations (p.R97L; p.Y136C; p.Y136H, p.N145I, p.S244C; p.G248R) of which five arose de novo, and three patients with compound-heterozygous variants (p.R210*/p.V579M; p.R210*/p.D531N; c.1149+1G>T/p.R688C). 30859559

2019

dbSNP: rs770992098
rs770992098
NEB
0.010 GeneticVariation BEFREE First, scrutiny of exomes from 9624 patients recruited by the Deciphering Developmental Disorders (DDDs) study uncovered six dominantly-acting mutations (p.R97L; p.Y136C; p.Y136H, p.N145I, p.S244C; p.G248R) of which five arose de novo, and three patients with compound-heterozygous variants (p.R210*/p.V579M; p.R210*/p.D531N; c.1149+1G>T/p.R688C). 30859559

2019

dbSNP: rs772206552
rs772206552
0.010 GeneticVariation BEFREE Mutations of SETD1A have been implicated in schizophrenia and developmental disorders, so we examined the role of the four mutations (R913C, Q269R, G1369R, and R1392H) in neural development. 31197650

2019

dbSNP: rs869320686
rs869320686
0.010 GeneticVariation BEFREE First, scrutiny of exomes from 9624 patients recruited by the Deciphering Developmental Disorders (DDDs) study uncovered six dominantly-acting mutations (p.R97L; p.Y136C; p.Y136H, p.N145I, p.S244C; p.G248R) of which five arose de novo, and three patients with compound-heterozygous variants (p.R210*/p.V579M; p.R210*/p.D531N; c.1149+1G>T/p.R688C). 30859559

2019

dbSNP: rs187438258
rs187438258
0.010 GeneticVariation BEFREE Here, we describe the case of a motor developmental disorder associated with intellectual disability accompanied by <i>MYH2</i> mutations (c.2266G>A and c.4258C>T) in a female child in China. 30662633

2018

dbSNP: rs202198533
rs202198533
0.010 GeneticVariation BEFREE Here, we describe the case of a motor developmental disorder associated with intellectual disability accompanied by <i>MYH2</i> mutations (c.2266G>A and c.4258C>T) in a female child in China. 30662633

2018

dbSNP: rs118203918
rs118203918
0.010 GeneticVariation BEFREE Human endocrine-cerebro-osteodysplasia (ECO) syndrome, caused by the loss-of-function mutation R272Q in the intestinal cell kinase (ICK) gene, is a neonatal-lethal developmental disorder. 28380258

2017

dbSNP: rs267606956
rs267606956
0.010 GeneticVariation BEFREE A mutation on this surface (E326K) causes the hereditary neuro-developmental disorder, MCSZ. 28453785

2017

dbSNP: rs1297485103
rs1297485103
0.010 GeneticVariation BEFREE We characterized de novo missense mutations in DENR (p.C37Y and p.P121L) detected in two unrelated human subjects diagnosed with brain developmental disorder to find that each variant impairs the function of DENR in mRNA translation re-initiation and disrupts the migration and terminal branching of cortical neurons in different ways. 27239039

2016

dbSNP: rs121908332
rs121908332
0.010 GeneticVariation BEFREE TASK3 channels are genetically imprinted, and a mutation in TASK3 (G236R) is responsible for Birk Barel mental retardation dysmorphism syndrome, a maternally transmitted developmental disorder. 24342771

2014

dbSNP: rs121912679
rs121912679
0.010 GeneticVariation BEFREE Strikingly, these somatic mutations (encoding p.Arg206His, p.Arg258Gly, p.Gly328Glu, p.Gly328Val, p.Gly328Trp and p.Gly356Asp substitutions) have not been reported previously in cancer but are identical to mutations found in the germ line of individuals with the congenital childhood developmental disorder fibrodysplasia ossificans progressiva (FOP) and have been shown to constitutively activate the BMP-TGF-β signaling pathway. 24705252

2014

dbSNP: rs121913237
rs121913237
0.010 GeneticVariation BEFREE Expression of N-Ras-I24N, N-Ras-G60E or the strongly activating mutant N-Ras-G12V, which we included as a positive control, results in developmental defects in zebrafish embryos, demonstrating that these activating N-Ras mutants are sufficient to induce developmental disorders. 21263000

2011

dbSNP: rs267606920
rs267606920
0.010 GeneticVariation BEFREE Expression of N-Ras-I24N, N-Ras-G60E or the strongly activating mutant N-Ras-G12V, which we included as a positive control, results in developmental defects in zebrafish embryos, demonstrating that these activating N-Ras mutants are sufficient to induce developmental disorders. 21263000

2011

dbSNP: rs869025573
rs869025573
0.010 GeneticVariation BEFREE Expression of N-Ras-I24N, N-Ras-G60E or the strongly activating mutant N-Ras-G12V, which we included as a positive control, results in developmental defects in zebrafish embryos, demonstrating that these activating N-Ras mutants are sufficient to induce developmental disorders. 21263000

2011

dbSNP: rs2435357
rs2435357
RET
0.010 GeneticVariation BEFREE This is the first report of a genetic interaction between a common functional variant (rs2435357) and a not infrequent copy number error (chromosome 21 dosage) in two human developmental disorders. 19306335

2009