Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs112795301
rs112795301
FOXP1
0.710 GeneticVariation BEFREE FOXP1(R525X) is a de novo heterozygous mutation found in patients with autism and severe mental retardation. 30124790

2019
dbSNP: rs397514627
rs397514627
CAMK2G
0.710 GeneticVariation BEFREE Recently, a de novo candidate mutation (p.Arg292Pro) in the gamma isoform of CAMK2 (CAMK2G) was identified in a patient with severe intellectual disability (ID), but the mechanism(s) by which this mutation causes ID is unknown. 30184290

2018
dbSNP: rs112795301
rs112795301
FOXP1
A 0.710 CausalMutation CLINVAR

dbSNP: rs397514627
rs397514627
CAMK2G
G 0.710 GeneticVariation CLINVAR

dbSNP: rs1057521721
rs1057521721
GRIA3
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
dbSNP: rs1553630279
rs1553630279
CTNNB1
T 0.700 CausalMutation CLINVAR Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals. 27915094

2017
dbSNP: rs1554041295
rs1554041295
ZSWIM6
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
dbSNP: rs386834034
rs386834034
TSPAN1 ; POMGNT1
A 0.700 CausalMutation CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784

2016
dbSNP: rs797045140
rs797045140
IQSEC2
C 0.700 CausalMutation CLINVAR A novel splicing mutation in the IQSEC2 gene that modulates the phenotype severity in a family with intellectual disability. 26733290

2016
dbSNP: rs869312873
rs869312873
NALCN
T 0.700 CausalMutation CLINVAR A novel homozygous splice site mutation in NALCN identified in siblings with cachexia, strabismus, severe intellectual disability, epilepsy and abnormal respiratory rhythm. 26923739

2016
dbSNP: rs796051881
rs796051881
PEX5
CA 0.700 CausalMutation CLINVAR A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform. 26220973

2015
dbSNP: rs1553630279
rs1553630279
CTNNB1
T 0.700 CausalMutation CLINVAR A new intellectual disability syndrome caused by CTNNB1 haploinsufficiency. 24668549

2014
dbSNP: rs796052056
rs796052056
TMEM70
CGT 0.700 CausalMutation CLINVAR Persistent pulmonary arterial hypertension in the newborn (PPHN): a frequent manifestation of TMEM70 defective patients. 24485043

2014
dbSNP: rs1554150607
rs1554150607
MEF2C
G 0.700 CausalMutation CLINVAR Refining the phenotype associated with MEF2C point mutations. 23001426

2013
dbSNP: rs796052056
rs796052056
TMEM70
CGT 0.700 CausalMutation CLINVAR TMEM70 mutations are a common cause of nuclear encoded ATP synthase assembly defect: further delineation of a new syndrome. 21147908

2011
dbSNP: rs1554150607
rs1554150607
MEF2C
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
dbSNP: rs1554150607
rs1554150607
MEF2C
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
dbSNP: rs1554150607
rs1554150607
MEF2C
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
dbSNP: rs796052056
rs796052056
TMEM70
CGT 0.700 CausalMutation CLINVAR TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy. 18953340

2008
dbSNP: rs1553630279
rs1553630279
CTNNB1
T 0.700 CausalMutation CLINVAR [Intraoperative echocardiographic assessment of left ventricular muscle volume changes after intracardiac operation under cardiopulmonary bypass]. 2614104

1989
dbSNP: rs1010184002
rs1010184002
PEX6
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1014959895
rs1014959895
PRMT7
T 0.700 CausalMutation CLINVAR

dbSNP: rs1057518848
rs1057518848
TCF4
CATTG 0.700 CausalMutation CLINVAR

dbSNP: rs1057518934
rs1057518934
HERC2
A 0.700 CausalMutation CLINVAR

dbSNP: rs1057518950
rs1057518950
TPO
T 0.700 GeneticVariation CLINVAR