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: rs397515382
rs397515382
ATP1A3
1.000 0.040 19 41966938 inframe insertion -/TAG delins
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12 		0.700 0
dbSNP: rs80356535
rs80356535
ATP1A3
1.000 0.040 19 41970533 missense variant A/C snv
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12 		0.810 1.000 0 2004 2014
dbSNP: rs549006436
rs549006436
ATP1A3
0.925 0.040 19 41970389 missense variant A/C;T snv
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12 		0.700 1.000 3 2012 2015
dbSNP: rs536681257
rs536681257
ATP1A3
0.882 0.080 19 41970298 missense variant A/C;T snv
CUI: C3553788
Disease: ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2 		0.800 1.000 0 2012 2016
dbSNP: rs549006436
rs549006436
ATP1A3
0.925 0.040 19 41970389 missense variant A/C;T snv
CUI: C3553788
Disease: ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2 		0.800 1.000 0 2012 2016
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: rs387907282
rs387907282
ATP1A3
0.925 0.040 19 41970296 missense variant A/G snv
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12 		0.700 0
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: rs606231433
rs606231433
ATP1A3
1.000 19 41981988 missense variant A/G snv
CUI: C3553788
Disease: ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2 		0.800 1.000 0 2012 2016
dbSNP: rs606231436
rs606231436
ATP1A3
0.882 0.080 19 41970536 missense variant A/G snv
CUI: C3553788
Disease: ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2 		0.700 0
dbSNP: rs606231448
rs606231448
ATP1A3
1.000 0.040 19 41981956 missense variant A/G snv
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12 		0.700 0
dbSNP: rs606231449
rs606231449
ATP1A3
1.000 0.040 19 41981774 missense variant A/G snv
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12 		0.700 0
dbSNP: rs80356536
rs80356536
ATP1A3
1.000 0.040 19 41970468 missense variant A/G snv
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12 		0.800 1.000 0 2004 2009
dbSNP: rs80356532
rs80356532
ATP1A3
0.925 0.040 19 41985090 missense variant A/G;T snv
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12 		0.800 1.000 0 2004 2009
dbSNP: rs80356532
rs80356532
ATP1A3
0.925 0.040 19 41985090 missense variant A/G;T snv
CUI: C3553788
Disease: ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2 		0.800 1.000 0 2012 2016
dbSNP: rs606231428
rs606231428
ATP1A3
1.000 19 41984946 missense variant A/T snv
CUI: C3553788
Disease: ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2 		0.800 1.000 0 2012 2016
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: 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: rs606231430
rs606231430
ATP1A3
1.000 19 41982102 missense variant C/A snv
CUI: C3553788
Disease: ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2 		0.800 1.000 0 2012 2016
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: 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