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: rs200891944
rs200891944
ATP1A3
19 41981976 missense variant C/A;T snv
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.700 1.000 27 1988 2017
dbSNP: rs797044897
rs797044897
ATP1A3
19 41984940 missense variant T/C snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 27 1988 2017
dbSNP: rs879255368
rs879255368
ATP1A3
19 41984953 missense variant C/G;T snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs879255368
rs879255368
ATP1A3
19 41984953 missense variant C/G;T snv
CUI: C0018991
Disease: Hemiplegia
Hemiplegia 		0.700 0
dbSNP: rs879255368
rs879255368
ATP1A3
19 41984953 missense variant C/G;T snv
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.700 0
dbSNP: rs879255368
rs879255368
ATP1A3
19 41984953 missense variant C/G;T snv
CUI: C0003578
Disease: Apnea
Apnea 		0.700 0
dbSNP: rs879255368
rs879255368
ATP1A3
19 41984953 missense variant C/G;T snv
CUI: C0085637
Disease: Oculogyric crisis
Oculogyric crisis 		0.700 0
dbSNP: rs80356537
rs80356537
ATP1A3
0.752 0.320 19 41970405 missense variant C/A;G;T snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 27 1988 2017
dbSNP: rs80356537
rs80356537
ATP1A3
0.752 0.320 19 41970405 missense variant C/A;G;T snv
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12 		0.810 1.000 10 2004 2016
dbSNP: rs387907281
rs387907281
ATP1A3
0.752 0.280 19 41970284 missense variant C/T snv
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12 		0.710 1.000 5 2012 2018
dbSNP: rs80356537
rs80356537
ATP1A3
0.752 0.320 19 41970405 missense variant C/A;G;T snv
CUI: C3553788
Disease: ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2 		0.800 1.000 5 2012 2016
dbSNP: rs387907281
rs387907281
ATP1A3
0.752 0.280 19 41970284 missense variant C/T snv
CUI: C1832466
Disease: CAPOS syndrome
CAPOS syndrome 		0.700 0
dbSNP: rs387907281
rs387907281
ATP1A3
0.752 0.280 19 41970284 missense variant C/T snv
CUI: C0085637
Disease: Oculogyric crisis
Oculogyric crisis 		0.700 0
dbSNP: rs387907281
rs387907281
ATP1A3
0.752 0.280 19 41970284 missense variant C/T snv
CUI: C0018991
Disease: Hemiplegia
Hemiplegia 		0.700 0
dbSNP: rs387907281
rs387907281
ATP1A3
0.752 0.280 19 41970284 missense variant C/T snv
CUI: C3553788
Disease: ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2 		0.700 0
dbSNP: rs387907281
rs387907281
ATP1A3
0.752 0.280 19 41970284 missense variant C/T snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs80356537
rs80356537
ATP1A3
0.752 0.320 19 41970405 missense variant C/A;G;T snv
CUI: C1832466
Disease: CAPOS syndrome
CAPOS syndrome 		0.700 0
dbSNP: rs80356537
rs80356537
ATP1A3
0.752 0.320 19 41970405 missense variant C/A;G;T snv
CUI: C0085637
Disease: Oculogyric crisis
Oculogyric crisis 		0.700 0
dbSNP: rs80356537
rs80356537
ATP1A3
0.752 0.320 19 41970405 missense variant C/A;G;T snv
CUI: C0013421
Disease: Dystonia
Dystonia 		0.700 0
dbSNP: rs80356537
rs80356537
ATP1A3
0.752 0.320 19 41970405 missense variant C/A;G;T snv
CUI: C0270790
Disease: Quadriparesis
Quadriparesis 		0.700 0
dbSNP: rs1064797245
rs1064797245
ATP1A3
0.776 0.280 19 41970540 missense variant G/A snv
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.700 1.000 27 1988 2017
dbSNP: rs1064797245
rs1064797245
ATP1A3
0.776 0.280 19 41970540 missense variant G/A snv
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12 		0.700 1.000 6 2015 2018
dbSNP: rs1064797245
rs1064797245
ATP1A3
0.776 0.280 19 41970540 missense variant G/A snv
CUI: C3553788
Disease: ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2 		0.700 1.000 4 2015 2017
dbSNP: rs1064797245
rs1064797245
ATP1A3
0.776 0.280 19 41970540 missense variant G/A snv
CUI: C1832466
Disease: CAPOS syndrome
CAPOS syndrome 		0.710 1.000 4 2015 2018
dbSNP: rs398122887
rs398122887
ATP1A3
0.790 0.280 19 41967744 missense variant C/G;T snv
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12 		0.700 1.000 6 2012 2015