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: rs797045047
rs797045047
GRIN1
1.000 9 137162510 missense variant G/A;C snv
CUI: C3280282
Disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT 		0.800 1.000 1 2011 2017
dbSNP: rs1060500046
rs1060500046
GRIN1
1.000 9 137162649 missense variant G/A snv
CUI: C3280282
Disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT 		0.800 0
dbSNP: rs1554770624
rs1554770624
GRIN1
1.000 9 137163764 missense variant T/C snv
CUI: C3280282
Disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT 		0.800 1.000 0 2011 2017
dbSNP: rs1554770667
rs1554770667
GRIN1
0.882 9 137163845 missense variant C/T snv
CUI: C3280282
Disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT 		0.800 1.000 0 2011 2017
dbSNP: rs869312865
rs869312865
GRIN1 ; LOC105376328
0.827 0.160 9 137156676 missense variant G/A;C snv
CUI: C4693325
Disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE 		0.800 1.000 0 2016 2017
dbSNP: rs1554770044
rs1554770044
GRIN1
1.000 9 137162182 missense variant G/A snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 25 1983 2017
dbSNP: rs1554770046
rs1554770046
GRIN1
9 137162184 missense variant A/C snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 25 1983 2017
dbSNP: rs1554770667
rs1554770667
GRIN1
0.882 9 137163845 missense variant C/T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 25 1983 2017
dbSNP: rs1554770667
rs1554770667
GRIN1
0.882 9 137163845 missense variant C/T snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 25 1983 2017
dbSNP: rs797045047
rs797045047
GRIN1
1.000 9 137162510 missense variant G/A;C snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 25 1983 2017
dbSNP: rs797045047
rs797045047
GRIN1
1.000 9 137162510 missense variant G/A;C snv
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.700 1.000 25 1983 2017
dbSNP: rs1554770444
rs1554770444
GRIN1
1.000 9 137163228 missense variant G/A snv
CUI: C3280282
Disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT 		0.700 1.000 1 2016 2016
dbSNP: rs1554770659
rs1554770659
GRIN1
1.000 0.040 9 137163819 missense variant T/C snv
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic 		0.700 1.000 1 2018 2018
dbSNP: rs1554770064
rs1554770064
GRIN1
1.000 9 137162216 inframe insertion -/GCA delins
CUI: C3280282
Disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT 		0.700 0
dbSNP: rs1554770185
rs1554770185
GRIN1
1.000 9 137162502 inframe insertion -/CATCGG delins
CUI: C3280282
Disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT 		0.700 0
dbSNP: rs1554770262
rs1554770262
GRIN1
1.000 9 137162687 missense variant T/G snv
CUI: C3280282
Disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT 		0.700 0
dbSNP: rs1554770589
rs1554770589
GRIN1
1.000 9 137163642 missense variant C/A snv
CUI: C3280282
Disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT 		0.700 0
dbSNP: rs1554770667
rs1554770667
GRIN1
0.882 9 137163845 missense variant C/T snv
CUI: C4693325
Disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs1564363665
rs1564363665
GRIN1
1.000 9 137162499 missense variant A/G snv
CUI: C3280282
Disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT 		0.700 0
dbSNP: rs1564365418
rs1564365418
GRIN1
0.882 0.120 9 137163846 missense variant G/T snv
CUI: C0454641
Disease: Expressive language delay
Expressive language delay 		0.700 0
dbSNP: rs1564365418
rs1564365418
GRIN1
0.882 0.120 9 137163846 missense variant G/T snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1564365418
rs1564365418
GRIN1
0.882 0.120 9 137163846 missense variant G/T snv
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0
dbSNP: rs1564365418
rs1564365418
GRIN1
0.882 0.120 9 137163846 missense variant G/T snv
CUI: C0009952
Disease: Febrile Convulsions
Febrile Convulsions 		0.700 0
dbSNP: rs1564365418
rs1564365418
GRIN1
0.882 0.120 9 137163846 missense variant G/T snv
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		0.700 0
dbSNP: rs200777850
rs200777850
GRIN1
1.000 9 137149087 missense variant C/A;T snv 4.9E-05 4.2E-05
CUI: C4693964
Disease: NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS WITHOUT SEIZURES, AUTOSOMAL RECESSIVE
NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS WITHOUT SEIZURES, AUTOSOMAL RECESSIVE 		0.700 0