Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397514670
rs397514670
SYNGAP1
CUI: C2675473
Disease: Mental Retardation, Autosomal Dominant 5
Mental Retardation, Autosomal Dominant 5 		T 0.800 CausalMutation CLINVAR Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy. 26989088

2016
dbSNP: rs397514670
rs397514670
SYNGAP1
CUI: C2675473
Disease: Mental Retardation, Autosomal Dominant 5
Mental Retardation, Autosomal Dominant 5 		T 0.800 CausalMutation CLINVAR Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiency. 23161826

2013
dbSNP: rs397514670
rs397514670
SYNGAP1
CUI: C2675473
Disease: Mental Retardation, Autosomal Dominant 5
Mental Retardation, Autosomal Dominant 5 		0.800 GeneticVariation UNIPROT Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. 23708187

2013
dbSNP: rs397514670
rs397514670
SYNGAP1
CUI: C2675473
Disease: Mental Retardation, Autosomal Dominant 5
Mental Retardation, Autosomal Dominant 5 		0.800 GeneticVariation UNIPROT Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiency. 23161826

2013
dbSNP: rs397514670
rs397514670
SYNGAP1
CUI: C2675473
Disease: Mental Retardation, Autosomal Dominant 5
Mental Retardation, Autosomal Dominant 5 		0.800 GeneticVariation UNIPROT De novo SYNGAP1 mutations in nonsyndromic intellectual disability and autism. 21237447

2011
dbSNP: rs397514670
rs397514670
SYNGAP1
CUI: C2675473
Disease: Mental Retardation, Autosomal Dominant 5
Mental Retardation, Autosomal Dominant 5 		0.800 GeneticVariation UNIPROT A de novo paradigm for mental retardation. 21076407

2010
dbSNP: rs397514670
rs397514670
SYNGAP1
CUI: C2675473
Disease: Mental Retardation, Autosomal Dominant 5
Mental Retardation, Autosomal Dominant 5 		0.800 GeneticVariation UNIPROT Mutations in SYNGAP1 in autosomal nonsyndromic mental retardation. 19196676

2009
dbSNP: rs1057518352
rs1057518352
SYNGAP1
CUI: C2675473
Disease: Mental Retardation, Autosomal Dominant 5
Mental Retardation, Autosomal Dominant 5 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1057518786
rs1057518786
SYNGAP1
CUI: C0038273
Disease: Stereotypic Movement Disorder
Stereotypic Movement Disorder 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518786
rs1057518786
SYNGAP1
CUI: C1860816
Disease: Preauricular skin tag
Preauricular skin tag 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518786
rs1057518786
SYNGAP1
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518786
rs1057518786
SYNGAP1
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518786
rs1057518786
SYNGAP1
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518796
rs1057518796
SYNGAP1
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518796
rs1057518796
SYNGAP1
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518796
rs1057518796
SYNGAP1
CUI: C1854882
Disease: Absent speech
Absent speech 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057519400
rs1057519400
SYNGAP1
CUI: C1843367
Disease: Poor school performance
Poor school performance 		C 0.700 CausalMutation CLINVAR

dbSNP: rs1057519400
rs1057519400
SYNGAP1
CUI: C2675473
Disease: Mental Retardation, Autosomal Dominant 5
Mental Retardation, Autosomal Dominant 5 		C 0.700 CausalMutation CLINVAR

dbSNP: rs1057519405
rs1057519405
SYNGAP1
CUI: C1843367
Disease: Poor school performance
Poor school performance 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1057519405
rs1057519405
SYNGAP1
CUI: C2675473
Disease: Mental Retardation, Autosomal Dominant 5
Mental Retardation, Autosomal Dominant 5 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1057519545
rs1057519545
SYNGAP1
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1057519546
rs1057519546
SYNGAP1
CUI: C2675473
Disease: Mental Retardation, Autosomal Dominant 5
Mental Retardation, Autosomal Dominant 5 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1057519546
rs1057519546
SYNGAP1
CUI: C2675473
Disease: Mental Retardation, Autosomal Dominant 5
Mental Retardation, Autosomal Dominant 5 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1060503378
rs1060503378
SYNGAP1 ; MIR5004
CUI: C2675473
Disease: Mental Retardation, Autosomal Dominant 5
Mental Retardation, Autosomal Dominant 5 		C 0.700 CausalMutation CLINVAR

dbSNP: rs1060503383
rs1060503383
SYNGAP1
CUI: C0001807
Disease: Aggressive behavior
Aggressive behavior 		T 0.700 GeneticVariation CLINVAR