|
rs1447313633
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia.
|
31036918 |
2019 |
|
rs1559296368
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia.
|
31036918 |
2019 |
|
rs1563686762
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature.
|
30125677 |
2019 |
|
rs1567368243
|
|
GT |
0.700 |
CausalMutation |
CLINVAR |
Novel SIN3A mutation identified in a Japanese patient with Witteveen-Kolk syndrome.
|
30267900 |
2019 |
|
rs1567499068
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
SCAPER localizes to primary cilia and its mutation affects cilia length, causing Bardet-Biedl syndrome.
|
30723319 |
2019 |
|
rs546151500
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia.
|
31036918 |
2019 |
|
rs1553794304
|
|
GT |
0.700 |
CausalMutation |
CLINVAR |
Homozygous mutation in CEP19, a gene mutated in morbid obesity, in Bardet-Biedl syndrome with predominant postaxial polydactyly.
|
29127258 |
2018 |
|
rs1555031372
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome.
|
29429572 |
2018 |
|
rs1555582065
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
A recurrent de novo missense mutation in UBTF causes developmental neuroregression.
|
29300972 |
2018 |
|
rs1562159088
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures.
|
29961568 |
2018 |
|
rs1562159562
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures.
|
29961568 |
2018 |
|
rs1562159599
|
|
CCTGGC |
0.700 |
CausalMutation |
CLINVAR |
De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures.
|
29961568 |
2018 |
|
rs587777161
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females.
|
27550844 |
2018 |
|
rs879255580
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females.
|
27550844 |
2018 |
|
rs879255581
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females.
|
27550844 |
2018 |
|
rs879255582
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females.
|
27550844 |
2018 |
|
rs879255583
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females.
|
27550844 |
2018 |
|
rs879255584
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females.
|
27550844 |
2018 |
|
rs879255585
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females.
|
27550844 |
2018 |
|
rs879255586
|
|
CA |
0.700 |
CausalMutation |
CLINVAR |
De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females.
|
27550844 |
2018 |
|
rs879255590
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females.
|
27550844 |
2018 |
|
rs1057519389
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.
|
28017372 |
2017 |
|
rs1057519389
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.
|
28017372 |
2017 |
|
rs1057519565
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype.
|
28940898 |
2017 |
|
rs1064793829
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Novel GATAD2B loss-of-function mutations cause intellectual disability in two unrelated cases.
|
28077840 |
2017 |