Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555243099
rs1555243099
T 0.700 GeneticVariation CLINVAR MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence. 29159987

2018

dbSNP: rs1555247853
rs1555247853
TGTTCGAG 0.700 CausalMutation CLINVAR MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence. 29159987

2018

dbSNP: rs587777618
rs587777618
G 0.700 GeneticVariation CLINVAR Hypoglycaemia represents a clinically significant manifestation of PIK3CA- and CCND2-associated segmental overgrowth. 28941273

2018

dbSNP: rs74315402
rs74315402
T 0.700 CausalMutation CLINVAR Genetic PrP Prion Diseases. 28778873

2018

dbSNP: rs781139634
rs781139634
A 0.700 CausalMutation CLINVAR Identification of De Novo DNMT3A Mutations That Cause West Syndrome by Using Whole-Exome Sequencing. 28386848

2018

dbSNP: rs781986930
rs781986930
A 0.700 CausalMutation CLINVAR WISP3 mutation associated with pseudorheumatoid dysplasia. 29092958

2018

dbSNP: rs879253888
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

dbSNP: rs1057519389
rs1057519389
T 0.700 GeneticVariation CLINVAR De novo variants in EBF3 are associated with hypotonia, developmental delay, intellectual disability, and autism. 29162653

2017

dbSNP: rs1057519389
rs1057519389
T 0.700 GeneticVariation CLINVAR De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome. 28017370

2017

dbSNP: rs1057519389
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

dbSNP: rs1057519389
rs1057519389
T 0.700 GeneticVariation CLINVAR A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3. 28017372

2017

dbSNP: rs1057519389
rs1057519389
T 0.700 GeneticVariation CLINVAR Whole Gene Deletion of EBF3 Supporting Haploinsufficiency of This Gene as a Mechanism of Neurodevelopmental Disease. 29062322

2017

dbSNP: rs1057519389
rs1057519389
T 0.700 GeneticVariation CLINVAR Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism. 28017373

2017

dbSNP: rs1057519430
rs1057519430
T 0.700 CausalMutation CLINVAR DDX3X mutations in two girls with a phenotype overlapping Toriello-Carey syndrome. 28371085

2017

dbSNP: rs1057521083
rs1057521083
A 0.700 GeneticVariation CLINVAR DEPDC5 mutations in familial and sporadic focal epilepsy. 28170089

2017

dbSNP: rs1057521083
rs1057521083
A 0.700 GeneticVariation CLINVAR Genotype and phenotype in 12 additional individuals with SATB2-associated syndrome. 28139846

2017

dbSNP: rs1057521083
rs1057521083
A 0.700 GeneticVariation CLINVAR Clinical and molecular consequences of disease-associated de novo mutations in SATB2. 28151491

2017

dbSNP: rs1057521083
rs1057521083
A 0.700 GeneticVariation CLINVAR A de novo SATB2 mutation in monozygotic twins with cleft palate, dental anomalies, and developmental delay. 28211976

2017

dbSNP: rs1064796453
rs1064796453
T 0.700 CausalMutation CLINVAR Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals. 27915094

2017

dbSNP: rs1064796453
rs1064796453
T 0.700 CausalMutation CLINVAR Defects in the Cell Signaling Mediator β-Catenin Cause the Retinal Vascular Condition FEVR. 28575650

2017

dbSNP: rs1064797245
rs1064797245
A 0.700 CausalMutation CLINVAR ATP1A3 mutations can cause progressive auditory neuropathy: a new gene of auditory synaptopathy. 29184165

2017

dbSNP: rs1064797245
rs1064797245
A 0.700 CausalMutation CLINVAR Research conference summary from the 2014 International Task Force on ATP1A3-Related Disorders. 28293679

2017

dbSNP: rs1131691608
rs1131691608
G 0.700 GeneticVariation CLINVAR DDX3X mutations in two girls with a phenotype overlapping Toriello-Carey syndrome. 28371085

2017

dbSNP: rs1131691712
rs1131691712
GA 0.700 CausalMutation CLINVAR Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially. 28742085

2017

dbSNP: rs1156904586
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