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: rs387907282
rs387907282
ATP1A3
0.925 0.040 19 41970296 missense variant A/G snv
CUI: C3553788
Disease: ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2 		0.700 0
dbSNP: rs397515382
rs397515382
ATP1A3
1.000 0.040 19 41966938 inframe insertion -/TAG delins
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12 		0.700 0
dbSNP: rs397515577
rs397515577
ATP1A3
1.000 0.040 19 41976459 missense variant G/A snv
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12 		0.700 0
dbSNP: rs397515578
rs397515578
ATP1A3
1.000 0.040 19 41984930 inframe deletion CAG/- delins
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12 		0.700 0
dbSNP: rs398122887
rs398122887
ATP1A3
0.790 0.280 19 41967744 missense variant C/G;T snv
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.700 0
dbSNP: rs398122887
rs398122887
ATP1A3
0.790 0.280 19 41967744 missense variant C/G;T snv
CUI: C0018991
Disease: Hemiplegia
Hemiplegia 		0.700 0
dbSNP: rs398122887
rs398122887
ATP1A3
0.790 0.280 19 41967744 missense variant C/G;T snv
CUI: C1832466
Disease: CAPOS syndrome
CAPOS syndrome 		0.700 0
dbSNP: rs542652468
rs542652468
ATP1A3
0.882 19 41986177 missense variant G/A;T snv
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		0.700 0
dbSNP: rs542652468
rs542652468
ATP1A3
0.882 19 41986177 missense variant G/A;T snv
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		0.700 0
dbSNP: rs542652468
rs542652468
ATP1A3
0.882 19 41986177 missense variant G/A;T snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs542652468
rs542652468
ATP1A3
0.882 19 41986177 missense variant G/A;T snv
CUI: C4021808
Disease: Abnormality of earlobe
Abnormality of earlobe 		0.700 0
dbSNP: rs542652468
rs542652468
ATP1A3
0.882 19 41986177 missense variant G/A;T snv
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		0.700 0
dbSNP: rs557939077
rs557939077
ATP1A3
1.000 19 41970494 missense variant G/A;T snv
CUI: C3553788
Disease: ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2 		0.700 0
dbSNP: rs573535377
rs573535377
ATP1A3
1.000 0.040 19 41981991 missense variant G/T snv
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12 		0.700 0
dbSNP: rs587777771
rs587777771
ATP1A3
0.851 0.240 19 41970275 missense variant C/T snv
CUI: C3553788
Disease: ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2 		0.700 0
dbSNP: rs606231431
rs606231431
ATP1A3
1.000 19 41982097 missense variant T/G snv
CUI: C3553788
Disease: ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2 		0.700 0
dbSNP: rs606231432
rs606231432
ATP1A3
1.000 19 41982028 missense variant C/A;G snv
CUI: C3553788
Disease: ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2 		0.700 0
dbSNP: rs606231434
rs606231434
ATP1A3
1.000 19 41970542 missense variant C/G snv
CUI: C3553788
Disease: ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2 		0.700 0
dbSNP: rs606231435
rs606231435
ATP1A3
0.827 0.240 19 41970539 missense variant C/T snv
CUI: C1832466
Disease: CAPOS syndrome
CAPOS syndrome 		0.700 0
dbSNP: rs606231435
rs606231435
ATP1A3
0.827 0.240 19 41970539 missense variant C/T snv
CUI: C0427190
Disease: Ataxia, Truncal
Ataxia, Truncal 		0.700 0
dbSNP: rs606231435
rs606231435
ATP1A3
0.827 0.240 19 41970539 missense variant C/T snv
CUI: C0234162
Disease: Cerebellar Dysmetria
Cerebellar Dysmetria 		0.700 0
dbSNP: rs606231435
rs606231435
ATP1A3
0.827 0.240 19 41970539 missense variant C/T snv
CUI: C0018681
Disease: Headache
Headache 		0.700 0
dbSNP: rs606231435
rs606231435
ATP1A3
0.827 0.240 19 41970539 missense variant C/T snv
CUI: C1859236
Disease: Prolonged neonatal jaundice
Prolonged neonatal jaundice 		0.700 0
dbSNP: rs606231435
rs606231435
ATP1A3
0.827 0.240 19 41970539 missense variant C/T snv
CUI: C0009952
Disease: Febrile Convulsions
Febrile Convulsions 		0.700 0
dbSNP: rs606231435
rs606231435
ATP1A3
0.827 0.240 19 41970539 missense variant C/T snv
CUI: C0750937
Disease: Ataxia, Appendicular
Ataxia, Appendicular 		0.700 0