Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1555103971
rs1555103971
GRIN2B
1.000 12 13571888 missense variant C/T snv
CUI: C3151411
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6
MENTAL RETARDATION, AUTOSOMAL DOMINANT 6 		0.800 1.000 0 2010 2017
dbSNP: rs387906636
rs387906636
GRIN2B
1.000 12 13571931 missense variant G/A snv
CUI: C3151411
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6
MENTAL RETARDATION, AUTOSOMAL DOMINANT 6 		0.800 1.000 0 2010 2017
dbSNP: rs397514555
rs397514555
GRIN2B ; LOC105369668
1.000 12 13615626 missense variant C/T snv
CUI: C3151411
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6
MENTAL RETARDATION, AUTOSOMAL DOMINANT 6 		0.800 1.000 0 2010 2017
dbSNP: rs397514556
rs397514556
GRIN2B ; LOC105369668
1.000 12 13611847 missense variant G/A snv
CUI: C3151411
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6
MENTAL RETARDATION, AUTOSOMAL DOMINANT 6 		0.800 1.000 0 2010 2017
dbSNP: rs527236034
rs527236034
GRIN2B ; LOC105369668
1.000 12 13616545 missense variant T/C snv
CUI: C3151411
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6
MENTAL RETARDATION, AUTOSOMAL DOMINANT 6 		0.800 1.000 0 2010 2017
dbSNP: rs672601376
rs672601376
GRIN2B ; LOC105369668
0.925 0.040 12 13608760 missense variant A/C snv
CUI: C4015316
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27 		0.800 1.000 0 2014 2017
dbSNP: rs672601377
rs672601377
GRIN2B ; LOC105369668
1.000 12 13608769 missense variant T/A snv
CUI: C4015316
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27 		0.800 1.000 0 2014 2017
dbSNP: rs1555103971
rs1555103971
GRIN2B
1.000 12 13571888 missense variant C/T snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 18 2007 2017
dbSNP: rs797044849
rs797044849
GRIN2B
0.807 0.160 12 13567164 missense variant C/A;G;T snv 4.0E-06
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 18 2007 2017
dbSNP: rs879253931
rs879253931
GRIN2B
0.925 12 13567084 stop gained G/A snv
CUI: C3151411
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6
MENTAL RETARDATION, AUTOSOMAL DOMINANT 6 		0.700 1.000 1 2016 2016
dbSNP: rs879253931
rs879253931
GRIN2B
0.925 12 13567084 stop gained G/A snv
CUI: C4015316
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27 		0.700 1.000 1 2016 2016
dbSNP: rs1057518700
rs1057518700
GRIN2B ; LOC105369668
1.000 12 13608792 stop gained C/G;T snv
CUI: C3151411
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6
MENTAL RETARDATION, AUTOSOMAL DOMINANT 6 		0.700 0
dbSNP: rs1057518800
rs1057518800
GRIN2B
12 13567228 missense variant C/T snv
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.700 0
dbSNP: rs1057518800
rs1057518800
GRIN2B
12 13567228 missense variant C/T snv
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs1057518988
rs1057518988
GRIN2B
0.925 0.040 12 13571859 missense variant T/C snv
CUI: C0004134
Disease: Ataxia
Ataxia 		0.700 0
dbSNP: rs1057518988
rs1057518988
GRIN2B
0.925 0.040 12 13571859 missense variant T/C snv
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.700 0
dbSNP: rs1057518988
rs1057518988
GRIN2B
0.925 0.040 12 13571859 missense variant T/C snv
CUI: C0683322
Disease: Mental impairment
Mental impairment 		0.700 0
dbSNP: rs1057519611
rs1057519611
GRIN2B
1.000 12 13865797 splice donor variant C/T snv
CUI: C3151411
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6
MENTAL RETARDATION, AUTOSOMAL DOMINANT 6 		0.700 0
dbSNP: rs1057519612
rs1057519612
GRIN2B
1.000 12 13567265 splice acceptor variant T/C snv
CUI: C3151411
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6
MENTAL RETARDATION, AUTOSOMAL DOMINANT 6 		0.700 0
dbSNP: rs1060499526
rs1060499526
GRIN2B
1.000 12 13753523 frameshift variant GT/- delins
CUI: C3151411
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6
MENTAL RETARDATION, AUTOSOMAL DOMINANT 6 		0.700 0
dbSNP: rs1060499659
rs1060499659
GRIN2B ; LOC105369668
1.000 12 13615170 missense variant C/T snv
CUI: C4015316
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27 		0.700 0
dbSNP: rs1135401799
rs1135401799
GRIN2B ; LOC105369668
1.000 12 13608647 stop gained G/A snv
CUI: C4015316
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27 		0.700 0
dbSNP: rs1555103646
rs1555103646
GRIN2B
1.000 0.040 12 13569964 missense variant C/A snv
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		0.700 0
dbSNP: rs1555103646
rs1555103646
GRIN2B
1.000 0.040 12 13569964 missense variant C/A snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs1555103646
rs1555103646
GRIN2B
1.000 0.040 12 13569964 missense variant C/A snv
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		0.700 0