Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs797044849
rs797044849
GRIN2B
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		G 0.700 CausalMutation CLINVAR GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects. 28377535

2017
dbSNP: rs797044849
rs797044849
GRIN2B
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		G 0.700 CausalMutation CLINVAR Further evidence for GRIN2B mutation as the cause of severe epileptic encephalopathy. 27605359

2016
dbSNP: rs797044849
rs797044849
GRIN2B
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		G 0.700 CausalMutation CLINVAR GRIN2B mutations in West syndrome and intellectual disability with focal epilepsy. 24272827

2014
dbSNP: rs797044849
rs797044849
GRIN2B
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		G 0.700 CausalMutation CLINVAR De novo mutations in moderate or severe intellectual disability. 25356899

2014
dbSNP: rs797044849
rs797044849
GRIN2B
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		G 0.700 CausalMutation CLINVAR Excess of rare novel loss-of-function variants in synaptic genes in schizophrenia and autism spectrum disorders. 24126926

2014
dbSNP: rs797044849
rs797044849
GRIN2B
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		G 0.700 CausalMutation CLINVAR Genetic analysis of GABRB3 as a candidate gene of autism spectrum disorders. 24999380

2014
dbSNP: rs797044849
rs797044849
GRIN2B
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		G 0.700 CausalMutation CLINVAR Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes. 23933819

2013
dbSNP: rs797044849
rs797044849
GRIN2B
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		G 0.700 CausalMutation CLINVAR De novo mutations in epileptic encephalopathies. 23934111

2013
dbSNP: rs797044849
rs797044849
GRIN2B
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		G 0.700 CausalMutation CLINVAR The NMDA receptor as a target for cognitive enhancement. 22796429

2013
dbSNP: rs797044849
rs797044849
GRIN2B
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		G 0.700 CausalMutation CLINVAR Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism. 24267886

2013
dbSNP: rs797044849
rs797044849
GRIN2B
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		G 0.700 CausalMutation CLINVAR GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction. 23933820

2013
dbSNP: rs797044849
rs797044849
GRIN2B
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		G 0.700 CausalMutation CLINVAR Behavioral phenotype in five individuals with de novo mutations within the GRIN2B gene. 23718928

2013
dbSNP: rs797044849
rs797044849
GRIN2B
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		G 0.700 CausalMutation CLINVAR Diagnostic exome sequencing in persons with severe intellectual disability. 23033978

2012
dbSNP: rs797044849
rs797044849
GRIN2B
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		G 0.700 CausalMutation CLINVAR Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. 23160955

2012
dbSNP: rs797044849
rs797044849
GRIN2B
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		G 0.700 CausalMutation CLINVAR Rare mutations in N-methyl-D-aspartate glutamate receptors in autism spectrum disorders and schizophrenia. 22833210

2011
dbSNP: rs797044849
rs797044849
GRIN2B
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		G 0.700 CausalMutation CLINVAR Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations. 21572417

2011
dbSNP: rs797044849
rs797044849
GRIN2B
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		G 0.700 CausalMutation CLINVAR Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes. 20890276

2010
dbSNP: rs797044849
rs797044849
GRIN2B
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		G 0.700 CausalMutation CLINVAR Most rare missense alleles are deleterious in humans: implications for complex disease and association studies. 17357078

2007