Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555239936
rs1555239936
MED13L
A 0.700 CausalMutation CLINVAR MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence. 29159987

2018
dbSNP: rs1555247469
rs1555247469
MED13L
C 0.700 CausalMutation CLINVAR MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence. 29159987

2018
dbSNP: rs1555248020
rs1555248020
MED13L
C 0.700 CausalMutation CLINVAR MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence. 29159987

2018
dbSNP: rs1555408829
rs1555408829
DYNC1H1
C 0.700 CausalMutation CLINVAR A de novo loss-of-function DYNC1H1 mutation in a patient with parkinsonian features and a favourable response to levodopa. 29243232

2018
dbSNP: rs1557196978
rs1557196978
ATP6AP1
G 0.700 CausalMutation CLINVAR Cutis laxa, exocrine pancreatic insufficiency and altered cellular metabolomics as additional symptoms in a new patient with ATP6AP1-CDG. 29396028

2018
dbSNP: rs398123009
rs398123009
PACS1
T 0.700 CausalMutation CLINVAR A novel missense mutation affecting the same amino acid as the recurrent PACS1 mutation in Schuurs-Hoeijmakers syndrome. 28975623

2018
dbSNP: rs587780564
rs587780564
DYNC1H1
T 0.700 GeneticVariation CLINVAR A de novo loss-of-function DYNC1H1 mutation in a patient with parkinsonian features and a favourable response to levodopa. 29243232

2018
dbSNP: rs587784543
rs587784543
WDR62
A 0.700 GeneticVariation CLINVAR A recognizable systemic connective tissue disorder with polyvalvular heart dystrophy and dysmorphism associated with TAB2 mutations. 28386937

2018
dbSNP: rs672601370
rs672601370
KIF1A
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: rs777218310
rs777218310
ECHS1
C 0.700 CausalMutation CLINVAR Mitochondrial Encephalopathy and Transient 3-Methylglutaconic Aciduria in ECHS1 Deficiency: Long-Term Follow-Up. 28755360

2018
dbSNP: rs781139634
rs781139634
DNMT3A
A 0.700 CausalMutation CLINVAR Identification of De Novo DNMT3A Mutations That Cause West Syndrome by Using Whole-Exome Sequencing. 28386848

2018
dbSNP: rs793888527
rs793888527
PURA
C 0.700 GeneticVariation CLINVAR Expanding the neurodevelopmental phenotype of PURA syndrome. 29150892

2018
dbSNP: rs793888527
rs793888527
PURA
C 0.700 GeneticVariation CLINVAR PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature. 29097605

2018
dbSNP: rs797044953
rs797044953
SETD5
T 0.700 GeneticVariation CLINVAR Expansion and further delineation of the SETD5 phenotype leading to global developmental delay, variable dysmorphic features, and reduced penetrance. 28881385

2018
dbSNP: rs797044953
rs797044953
SETD5
T 0.700 GeneticVariation CLINVAR Missense variants in the chromatin remodeler CHD1 are associated with neurodevelopmental disability. 28866611

2018
dbSNP: rs878853160
rs878853160
CDK13
G 0.700 CausalMutation CLINVAR Redefining the phenotypic spectrum of de novo heterozygous CDK13 variants: Three patients without cardiac defects. 29222009

2018
dbSNP: rs878853160
rs878853160
CDK13
G 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
dbSNP: rs1057518496
rs1057518496
SATB2
A 0.700 CausalMutation CLINVAR Clinical and molecular consequences of disease-associated de novo mutations in SATB2. 28151491

2017
dbSNP: rs1057518496
rs1057518496
SATB2
A 0.700 CausalMutation CLINVAR A de novo SATB2 mutation in monozygotic twins with cleft palate, dental anomalies, and developmental delay. 28211976

2017
dbSNP: rs1057518496
rs1057518496
SATB2
A 0.700 CausalMutation CLINVAR Genotype and phenotype in 12 additional individuals with SATB2-associated syndrome. 28139846

2017
dbSNP: rs1057518496
rs1057518496
SATB2
A 0.700 CausalMutation CLINVAR DEPDC5 mutations in familial and sporadic focal epilepsy. 28170089

2017
dbSNP: rs1057519389
rs1057519389
EBF3
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
EBF3
T 0.700 CausalMutation CLINVAR A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3. 28017372

2017
dbSNP: rs1057519389
rs1057519389
EBF3
T 0.700 GeneticVariation CLINVAR De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome. 28017370

2017
dbSNP: rs1057519389
rs1057519389
EBF3
A 0.700 CausalMutation CLINVAR A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3. 28017372

2017