rs1555243099
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence.
|
29159987 |
2018 |
rs1555247853
|
|
TGTTCGAG |
0.700 |
CausalMutation |
CLINVAR |
MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence.
|
29159987 |
2018 |
rs587777618
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Hypoglycaemia represents a clinically significant manifestation of PIK3CA- and CCND2-associated segmental overgrowth.
|
28941273 |
2018 |
rs74315402
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Genetic PrP Prion Diseases.
|
28778873 |
2018 |
rs781139634
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Identification of De Novo DNMT3A Mutations That Cause West Syndrome by Using Whole-Exome Sequencing.
|
28386848 |
2018 |
rs781986930
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
WISP3 mutation associated with pseudorheumatoid dysplasia.
|
29092958 |
2018 |
rs879253888
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Whole-exome sequencing is a valuable diagnostic tool for inherited peripheral neuropathies: Outcomes from a cohort of 50 families.
|
28708278 |
2018 |
rs1057519389
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
De novo variants in EBF3 are associated with hypotonia, developmental delay, intellectual disability, and autism.
|
29162653 |
2017 |
rs1057519389
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome.
|
28017370 |
2017 |
rs1057519389
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Novel de novo variant in EBF3 is likely to impact DNA binding in a patient with a neurodevelopmental disorder and expanded phenotypes: patient report, in silico functional assessment, and review of published cases.
|
28487885 |
2017 |
rs1057519389
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.
|
28017372 |
2017 |
rs1057519389
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Whole Gene Deletion of EBF3 Supporting Haploinsufficiency of This Gene as a Mechanism of Neurodevelopmental Disease.
|
29062322 |
2017 |
rs1057519389
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism.
|
28017373 |
2017 |
rs1057519430
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
DDX3X mutations in two girls with a phenotype overlapping Toriello-Carey syndrome.
|
28371085 |
2017 |
rs1057521083
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
DEPDC5 mutations in familial and sporadic focal epilepsy.
|
28170089 |
2017 |
rs1057521083
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Genotype and phenotype in 12 additional individuals with SATB2-associated syndrome.
|
28139846 |
2017 |
rs1057521083
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Clinical and molecular consequences of disease-associated de novo mutations in SATB2.
|
28151491 |
2017 |
rs1057521083
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
A de novo SATB2 mutation in monozygotic twins with cleft palate, dental anomalies, and developmental delay.
|
28211976 |
2017 |
rs1064796453
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals.
|
27915094 |
2017 |
rs1064796453
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Defects in the Cell Signaling Mediator β-Catenin Cause the Retinal Vascular Condition FEVR.
|
28575650 |
2017 |
rs1064797245
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
ATP1A3 mutations can cause progressive auditory neuropathy: a new gene of auditory synaptopathy.
|
29184165 |
2017 |
rs1064797245
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Research conference summary from the 2014 International Task Force on ATP1A3-Related Disorders.
|
28293679 |
2017 |
rs1131691608
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
DDX3X mutations in two girls with a phenotype overlapping Toriello-Carey syndrome.
|
28371085 |
2017 |
rs1131691712
|
|
GA |
0.700 |
CausalMutation |
CLINVAR |
Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially.
|
28742085 |
2017 |
rs1156904586
|
|
CT |
0.700 |
CausalMutation |
CLINVAR |
A multicenter clinical exome study in unselected cohorts from a consanguineous population of Saudi Arabia demonstrated a high diagnostic yield.
|
28454995 |
2017 |