Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs869312865
rs869312865
Entrez Id: 2902;105376328
Gene Symbol: GRIN1;LOC105376328
GRIN1;LOC105376328
CUI: C4693325
Disease:
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE 		0.800 GeneticVariation UNIPROT Novel homozygous missense variant of GRIN1 in two sibs with intellectual disability and autistic features without epilepsy. 28051072 2017
dbSNP: rs1554770044
rs1554770044
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Novel homozygous missense variant of GRIN1 in two sibs with intellectual disability and autistic features without epilepsy. 28051072 2017
dbSNP: rs1554770046
rs1554770046
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C0026827
Disease:
Muscle hypotonia 		C 0.700 CausalMutation CLINVAR Novel homozygous missense variant of GRIN1 in two sibs with intellectual disability and autistic features without epilepsy. 28051072 2017
dbSNP: rs1554770667
rs1554770667
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 CausalMutation CLINVAR Novel homozygous missense variant of GRIN1 in two sibs with intellectual disability and autistic features without epilepsy. 28051072 2017
dbSNP: rs1554770667
rs1554770667
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Novel homozygous missense variant of GRIN1 in two sibs with intellectual disability and autistic features without epilepsy. 28051072 2017
dbSNP: rs797045047
rs797045047
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C0026827
Disease:
Muscle hypotonia 		C 0.700 GeneticVariation CLINVAR Novel homozygous missense variant of GRIN1 in two sibs with intellectual disability and autistic features without epilepsy. 28051072 2017
dbSNP: rs797045047
rs797045047
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C0026650
Disease:
Movement Disorders 		C 0.700 GeneticVariation CLINVAR Novel homozygous missense variant of GRIN1 in two sibs with intellectual disability and autistic features without epilepsy. 28051072 2017
dbSNP: rs869312865
rs869312865
Entrez Id: 2902;105376328
Gene Symbol: GRIN1;LOC105376328
GRIN1;LOC105376328
CUI: C0014544
Disease:
Epilepsy 		0.010 GeneticVariation BEFREE The p.(Asp227His) variant is located in the same aminoterminal protein domain as the recently published p.(Arg217Trp), which was found at the homozygous state in two patients with a similar phenotype of severe intellectual disability and autistic features but without epilepsy. 28051072 2017
dbSNP: rs869312865
rs869312865
Entrez Id: 2902;105376328
Gene Symbol: GRIN1;LOC105376328
GRIN1;LOC105376328
CUI: C0036857
Disease:
Severe intellectual disability 		0.010 GeneticVariation BEFREE The p.(Asp227His) variant is located in the same aminoterminal protein domain as the recently published p.(Arg217Trp), which was found at the homozygous state in two patients with a similar phenotype of severe intellectual disability and autistic features but without epilepsy. 28051072 2017
dbSNP: rs1554770624
rs1554770624
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C3280282
Disease:
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT 		0.800 GeneticVariation UNIPROT Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy. 27164704 2016
dbSNP: rs1554770667
rs1554770667
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C3280282
Disease:
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT 		0.800 GeneticVariation UNIPROT Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy. 27164704 2016
dbSNP: rs797045047
rs797045047
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C3280282
Disease:
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT 		0.800 GeneticVariation UNIPROT Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy. 27164704 2016
dbSNP: rs869312865
rs869312865
Entrez Id: 2902;105376328
Gene Symbol: GRIN1;LOC105376328
GRIN1;LOC105376328
CUI: C4693325
Disease:
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE 		0.800 GeneticVariation UNIPROT Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy. 27164704 2016
dbSNP: rs1554770044
rs1554770044
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy. 27164704 2016
dbSNP: rs1554770046
rs1554770046
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C0026827
Disease:
Muscle hypotonia 		C 0.700 CausalMutation CLINVAR Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy. 27164704 2016
dbSNP: rs1554770054
rs1554770054
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C3280282
Disease:
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT 		0.700 GeneticVariation UNIPROT Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy. 27164704 2016
dbSNP: rs1554770667
rs1554770667
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 CausalMutation CLINVAR Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy. 27164704 2016
dbSNP: rs1554770667
rs1554770667
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy. 27164704 2016
dbSNP: rs387906635
rs387906635
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C3280282
Disease:
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT 		0.700 GeneticVariation UNIPROT Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy. 27164704 2016
dbSNP: rs797045047
rs797045047
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C0026650
Disease:
Movement Disorders 		C 0.700 GeneticVariation CLINVAR Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy. 27164704 2016
dbSNP: rs797045047
rs797045047
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C0026827
Disease:
Muscle hypotonia 		C 0.700 GeneticVariation CLINVAR Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy. 27164704 2016
dbSNP: rs878853143
rs878853143
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C3280282
Disease:
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT 		0.700 GeneticVariation UNIPROT Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy. 27164704 2016
dbSNP: rs797045047
rs797045047
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C3280282
Disease:
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT 		C 0.800 GeneticVariation CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545 2016
dbSNP: rs1554770444
rs1554770444
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C3280282
Disease:
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT 		A 0.700 GeneticVariation CLINVAR Clinical application of whole-exome sequencing across clinical indications. 26633542 2016
dbSNP: rs1554770624
rs1554770624
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C3280282
Disease:
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT 		0.800 GeneticVariation UNIPROT GRIN1 mutations cause encephalopathy with infantile-onset epilepsy, and hyperkinetic and stereotyped movement disorders. 25864721 2015