rs141970897
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
CRAT missense variants cause abnormal carnitine acetyltransferase function in an early-onset case of Leigh syndrome.
|
31448845 |
2020 |
rs762425351
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
CRAT missense variants cause abnormal carnitine acetyltransferase function in an early-onset case of Leigh syndrome.
|
31448845 |
2020 |
rs1554728529
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Evidence of Aortopathy in Mice with Haploinsufficiency of Notch1 in Nos3-Null Background.
|
25914885 |
2019 |
rs1557043622
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
|
30817854 |
2019 |
rs797044951
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Clinical Phenotype of De Novo GNAO1 Mutation: Case Report and Review of Literature.
|
28503590 |
2019 |
rs1006898944
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
A recognizable systemic connective tissue disorder with polyvalvular heart dystrophy and dysmorphism associated with TAB2 mutations.
|
28386937 |
2018 |
rs1057519632
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability.
|
29021403 |
2018 |
rs1057519632
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Redefining the phenotypic spectrum of de novo heterozygous CDK13 variants: Three patients without cardiac defects.
|
29222009 |
2018 |
rs1242562412
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
PGAP3-related hyperphosphatasia with mental retardation syndrome: Report of 10 new patients and a homozygous founder mutation.
|
28390064 |
2018 |
rs1304422857
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Kaufman oculocerebrofacial syndrome: Novel UBE3B mutations and clinical features in four unrelated patients.
|
29160006 |
2018 |
rs147001633
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Identification of De Novo DNMT3A Mutations That Cause West Syndrome by Using Whole-Exome Sequencing.
|
28386848 |
2018 |
rs1553352926
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Identification of novel BCL11A variants in patients with epileptic encephalopathy: Expanding the phenotypic spectrum.
|
28589569 |
2018 |
rs1553352926
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
BCL11A frameshift mutation associated with dyspraxia and hypotonia affecting the fine, gross, oral, and speech motor systems.
|
28960836 |
2018 |
rs1553749681
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
DOCK3-related neurodevelopmental syndrome: Biallelic intragenic deletion of DOCK3 in a boy with developmental delay and hypotonia.
|
29130632 |
2018 |
rs1553996876
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Exome sequencing reveals NAA15 and PUF60 as candidate genes associated with intellectual disability.
|
28990276 |
2018 |
rs1554100923
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Expanding the phenotypic spectrum of GABRG2 variants: a recurrent GABRG2 missense variant associated with a severe phenotype.
|
28460589 |
2018 |
rs1554128999
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Expanding the neurodevelopmental phenotype of PURA syndrome.
|
29150892 |
2018 |
rs1554128999
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature.
|
29097605 |
2018 |
rs1554129039
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Expanding the neurodevelopmental phenotype of PURA syndrome.
|
29150892 |
2018 |
rs1554129039
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature.
|
29097605 |
2018 |
rs1554129113
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature.
|
29097605 |
2018 |
rs1554129113
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Expanding the neurodevelopmental phenotype of PURA syndrome.
|
29150892 |
2018 |
rs1554698878
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Clinical spectrum of Kabuki-like syndrome caused by HNRNPK haploinsufficiency.
|
28374925 |
2018 |
rs1554879633
|
|
CG |
0.700 |
CausalMutation |
CLINVAR |
First prenatal diagnosis of a 'pure' 9q34.3 deletion (Kleefstra syndrome): A case report and literature review.
|
29160022 |
2018 |
rs1554931219
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Mapping autosomal recessive intellectual disability: combined microarray and exome sequencing identifies 26 novel candidate genes in 192 consanguineous families.
|
28397838 |
2018 |