rs1010184002
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1034395178
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants.
|
29469822 |
2018 |
rs104894226
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Germline mutations in HRAS proto-oncogene cause Costello syndrome.
|
16170316 |
2005 |
rs104894228
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The individuals with p.G13C had many typical findings including polyhydramnios, failure-to-thrive, HCM, macrocephaly with posterior fossa crowding, and developmental delay.
|
21438134 |
2011 |
rs104894366
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Germline KRAS mutations cause aberrant biochemical and physical properties leading to developmental disorders.
|
20949621 |
2011 |
rs104894366
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Vitamin K induces osteoblast differentiation through pregnane X receptor-mediated transcriptional control of the Msx2 gene.
|
17875939 |
2007 |
rs104894366
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Germline KRAS mutations cause Noonan syndrome.
|
16474405 |
2006 |
rs104894396
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
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 |
2004 |
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 |
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 |
rs1057516033
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.
|
26938784 |
2016 |
rs1057516037
|
|
AC |
0.700 |
GeneticVariation |
CLINVAR |
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.
|
26938784 |
2016 |
rs1057516038
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.
|
26938784 |
2016 |
rs1057516049
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1057516264
|
|
TC |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1057517686
|
|
|
0.710 |
GeneticVariation |
BEFREE |
We identified a recurrent de novo ATAD3A c.1582C>T (p.Arg528Trp) variant by whole-exome sequencing (WES) in five unrelated individuals with a core phenotype of global developmental delay, hypotonia, optic atrophy, axonal neuropathy, and hypertrophic cardiomyopathy.
|
27640307 |
2016 |
rs1057517686
|
|
T |
0.710 |
GeneticVariation |
CLINVAR |
We identified a recurrent de novo ATAD3A c.1582C>T (p.Arg528Trp) variant by whole-exome sequencing (WES) in five unrelated individuals with a core phenotype of global developmental delay, hypotonia, optic atrophy, axonal neuropathy, and hypertrophic cardiomyopathy.
|
27640307 |
2016 |
rs1057517718
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our results show that p.Tyr715Cys is a gain-of-function CLCN7 variant associated with developmental delay, organomegaly, and hypopigmentation resulting from lysosomal hyperacidity, abnormal storage, and enlarged intracellular vacuoles.
|
31155284 |
2019 |
rs1057517846
|
|
|
0.010 |
GeneticVariation |
BEFREE |
W44X mutation in the WWOX gene causes intractable seizures and developmental delay: a case report.
|
27495153 |
2016 |
rs1057518345
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1057518681
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1057518699
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes.
|
25644381 |
2016 |
rs1057518770
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1057518776
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|