rs121909231
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|
T |
0.700 |
CausalMutation |
CLINVAR |
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rs138615487
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|
|
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).
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30859559 |
2019 |
rs150419186
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|
|
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).
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30859559 |
2019 |
rs587777178
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|
|
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 |
rs765416902
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|
|
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).
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30859559 |
2019 |
rs770992098
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|
|
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).
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30859559 |
2019 |
rs772206552
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|
|
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 |
rs869320686
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|
|
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).
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30859559 |
2019 |
rs187438258
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|
|
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.
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30662633 |
2018 |
rs202198533
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|
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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.
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30662633 |
2018 |
rs118203918
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|
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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.
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28380258 |
2017 |
rs267606956
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|
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0.010 |
GeneticVariation |
BEFREE |
A mutation on this surface (E326K) causes the hereditary neuro-developmental disorder, MCSZ.
|
28453785 |
2017 |
rs1297485103
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|
|
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 |
rs121908332
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|
|
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 |
rs121912679
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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 |
rs121913237
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|
|
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 |
rs267606920
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|
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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 |
rs869025573
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|
|
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 |
rs2435357
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|
|
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.
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19306335 |
2009 |