rs112795301
|
|
Severe intellectual disability
|
A |
0.710 |
CausalMutation
|
CLINVAR |
|
|
|
rs397514627
|
|
Severe intellectual disability
|
G |
0.710 |
GeneticVariation
|
CLINVAR |
|
|
|
rs1010184002
|
|
Severe intellectual disability
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
rs1014959895
|
|
Severe intellectual disability
|
T |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs1057518848
|
|
Severe intellectual disability
|
CATTG |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs1057518934
|
|
Severe intellectual disability
|
A |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs1057518950
|
|
Severe intellectual disability
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
rs1057521721
|
|
Severe intellectual disability
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
A point mutation in the ion conduction pore of AMPA receptor GRIA3 causes dramatically perturbed sleep patterns as well as intellectual disability.
|
29016847 |
2017 |
rs1131692231
|
|
Severe intellectual disability
|
T |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs1131692272
|
|
Severe intellectual disability
|
T |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs1135401761
|
|
Severe intellectual disability
|
A |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs1223073957
|
|
Severe intellectual disability
|
A |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs122445099
|
|
Severe intellectual disability
|
A |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs1251713297
|
|
Severe intellectual disability
|
A |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs1325394060
|
|
Severe intellectual disability
|
G |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
rs1553630279
|
|
Severe intellectual disability
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals.
|
27915094 |
2017 |
rs1553630279
|
|
Severe intellectual disability
|
T |
0.700 |
CausalMutation
|
CLINVAR |
A new intellectual disability syndrome caused by CTNNB1 haploinsufficiency.
|
24668549 |
2014 |
rs1553630279
|
|
Severe intellectual disability
|
T |
0.700 |
CausalMutation
|
CLINVAR |
[Intraoperative echocardiographic assessment of left ventricular muscle volume changes after intracardiac operation under cardiopulmonary bypass].
|
2614104 |
1989 |
rs1553655558
|
|
Severe intellectual disability
|
G |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs1554041295
|
|
Severe intellectual disability
|
T |
0.700 |
CausalMutation
|
CLINVAR |
A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations.
|
29198722 |
2017 |
rs1554150607
|
|
Severe intellectual disability
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Refining the phenotype associated with MEF2C point mutations.
|
23001426 |
2013 |
rs1554150607
|
|
Severe intellectual disability
|
G |
0.700 |
CausalMutation
|
CLINVAR |
MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations.
|
19592390 |
2010 |
rs1554150607
|
|
Severe intellectual disability
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression.
|
20513142 |
2010 |
rs1554150607
|
|
Severe intellectual disability
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Interstitial deletion 5q14.3-q21 associated with iris coloboma, hearing loss, dental anomaly, moderate intellectual disability, and attention deficit and hyperactivity disorder.
|
19876902 |
2009 |
rs1554691658
|
|
Severe intellectual disability
|
GGGTCCACAACATCT |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|