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: rs1057516032
rs1057516032
ATP1A3
1.000 19 41970211 protein altering variant AGTCT/GA delins
CUI: C3553788
Disease: ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2 		0.700 1.000 1 2016 2016
dbSNP: rs1057516032
rs1057516032
ATP1A3
1.000 19 41970211 protein altering variant AGTCT/GA delins
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.700 1.000 1 2016 2016
dbSNP: rs1057516032
rs1057516032
ATP1A3
1.000 19 41970211 protein altering variant AGTCT/GA delins
CUI: C0036572
Disease: Seizures
Seizures 		0.700 1.000 1 2016 2016
dbSNP: rs1057516032
rs1057516032
ATP1A3
1.000 19 41970211 protein altering variant AGTCT/GA delins
CUI: C1857287
Disease: Stroke-like episode
Stroke-like episode 		0.700 1.000 1 2016 2016
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: rs1131691940
rs1131691940
ATP1A3
1.000 19 41982096 missense variant G/A;T snv 8.0E-06
CUI: C3553788
Disease: ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2 		0.700 0
dbSNP: rs1135401821
rs1135401821
ATP1A3
1.000 0.240 19 41986127 missense variant T/C snv
CUI: C1832466
Disease: CAPOS syndrome
CAPOS syndrome 		0.700 0
dbSNP: rs1135401822
rs1135401822
ATP1A3
1.000 0.240 19 41975668 missense variant C/A snv
CUI: C1832466
Disease: CAPOS syndrome
CAPOS syndrome 		0.700 0
dbSNP: rs1555859157
rs1555859157
ATP1A3
1.000 19 41968833 missense variant A/G snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 27 1988 2017
dbSNP: rs1555859571
rs1555859571
ATP1A3
1.000 0.040 19 41970398 missense variant C/T snv
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12 		0.700 1.000 1 2014 2014
dbSNP: rs1555859593
rs1555859593
ATP1A3
1.000 19 41970483 missense variant G/T snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 27 1988 2017
dbSNP: rs1555859593
rs1555859593
ATP1A3
1.000 19 41970483 missense variant G/T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 27 1988 2017
dbSNP: rs1555859593
rs1555859593
ATP1A3
1.000 19 41970483 missense variant G/T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 27 1988 2017
dbSNP: rs1568853466
rs1568853466
ATP1A3
1.000 0.040 19 41969446 missense variant C/G snv
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12 		0.700 1.000 1 2014 2014
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: rs267606670
rs267606670
ATP1A3
0.790 0.320 19 41968837 missense variant C/A;T snv
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12 		0.700 1.000 5 2009 2014
dbSNP: rs267606670
rs267606670
ATP1A3
0.790 0.320 19 41968837 missense variant C/A;T snv
CUI: C1832466
Disease: CAPOS syndrome
CAPOS syndrome 		0.700 0
dbSNP: rs267606670
rs267606670
ATP1A3
0.790 0.320 19 41968837 missense variant C/A;T snv
CUI: C4022010
Disease: Maternal seizures
Maternal seizures 		0.700 0
dbSNP: rs267606670
rs267606670
ATP1A3
0.790 0.320 19 41968837 missense variant C/A;T snv
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		0.700 0
dbSNP: rs267606670
rs267606670
ATP1A3
0.790 0.320 19 41968837 missense variant C/A;T snv
CUI: C0013421
Disease: Dystonia
Dystonia 		0.700 0
dbSNP: rs267606670
rs267606670
ATP1A3
0.790 0.320 19 41968837 missense variant C/A;T snv
CUI: C1844813
Disease: Widely spaced teeth
Widely spaced teeth 		0.700 0
dbSNP: rs267606670
rs267606670
ATP1A3
0.790 0.320 19 41968837 missense variant C/A;T snv
CUI: C0432123
Disease: Sagittal craniosynostosis
Sagittal craniosynostosis 		0.700 0