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Items: 51

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr19:42471091-42471093
GRCh38:
Chr19:41966939-41966941
ATP1A3Dystonia 12Pathogenic
(May 4, 2014)
no assertion criteria provided
2.
GRCh37:
Chr19:42471440
GRCh38:
Chr19:41967288
ATP1A3Alternating hemiplegia of childhood 2Pathogenic
(May 4, 2014)
no assertion criteria provided
3.
GRCh37:
Chr19:42471871
GRCh38:
Chr19:41967719
ATP1A3Alternating hemiplegia of childhood 2Pathogenic
(May 4, 2014)
no assertion criteria provided
4.
GRCh37:
Chr19:42471896
GRCh38:
Chr19:41967744
ATP1A3Alternating hemiplegia of childhood 2Pathogenic
(May 4, 2014)
no assertion criteria provided
5.
GRCh37:
Chr19:42471896
GRCh38:
Chr19:41967744
ATP1A3Dystonia 12, Seizure Disorders, Alternating hemiplegia of childhood 2,
not provided, Hemiplegia
Pathogenic
(Oct 12, 2016)
criteria provided, multiple submitters, no conflicts
6.
GRCh37:
Chr19:42472975
GRCh38:
Chr19:41968823
ATP1A3Alternating hemiplegia of childhood 2Pathogenic
(May 4, 2014)
no assertion criteria provided
7.
GRCh37:
Chr19:42472976
GRCh38:
Chr19:41968824
ATP1A3Alternating hemiplegia of childhood 2Pathogenic
(May 4, 2014)
no assertion criteria provided
8.
GRCh37:
Chr19:42472976
GRCh38:
Chr19:41968824
ATP1A3Alternating hemiplegia of childhood 2Pathogenic
(May 4, 2014)
no assertion criteria provided
9.
GRCh37:
Chr19:42472989
GRCh38:
Chr19:41968837
ATP1A3Alternating hemiplegia of childhood 2, not providedPathogenic
(Apr 28, 2017)
criteria provided, single submitter
10.
GRCh37:
Chr19:42472989
GRCh38:
Chr19:41968837
ATP1A3Dystonia 12, Alternating hemiplegia of childhood 2Pathogenic
(Jul 23, 2015)
criteria provided, single submitter
11.
GRCh37:
Chr19:42472999-42473001
GRCh38:
Chr19:41968847-41968849
ATP1A3Alternating hemiplegia of childhood 2Pathogenic
(May 4, 2014)
no assertion criteria provided
12.
GRCh37:
Chr19:42473675
GRCh38:
Chr19:41969523
ATP1A3Dystonia 12, Alternating hemiplegia of childhood 2Pathogenic
(May 4, 2014)
no assertion criteria provided
13.
GRCh37:
Chr19:42474336
GRCh38:
Chr19:41970184
ATP1A3Alternating hemiplegia of childhood 2Pathogenic
(May 4, 2014)
no assertion criteria provided
14.
GRCh37:
Chr19:42474427
GRCh38:
Chr19:41970275
ATP1A3Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss, Dystonia 12, Alternating hemiplegia of childhood 2,
not provided, Inborn genetic diseases
Pathogenic
(Aug 5, 2016)
criteria provided, multiple submitters, no conflicts
15.
GRCh37:
Chr19:42474436
GRCh38:
Chr19:41970284
ATP1A3Dystonia 12, Alternating hemiplegia of childhood 2, not provided
Pathogenic
(Dec 20, 2016)
criteria provided, multiple submitters, no conflicts
16.
GRCh37:
Chr19:42474448
GRCh38:
Chr19:41970296
ATP1A3Alternating hemiplegia of childhood 2Pathogenic
(May 4, 2014)
no assertion criteria provided
17.
GRCh37:
Chr19:42474450
GRCh38:
Chr19:41970298
ATP1A3Alternating hemiplegia of childhood 2Pathogenic
(May 4, 2014)
no assertion criteria provided
18.
GRCh37:
Chr19:42474451
GRCh38:
Chr19:41970299
ATP1A3Alternating hemiplegia of childhood 2Pathogenic
(May 4, 2014)
no assertion criteria provided
19.
GRCh37:
Chr19:42474541
GRCh38:
Chr19:41970389
ATP1A3Alternating hemiplegia of childhood 2Pathogenic
(May 4, 2014)
no assertion criteria provided
20.
GRCh37:
Chr19:42474543
GRCh38:
Chr19:41970391
ATP1A3Alternating hemiplegia of childhood 2Pathogenic
(May 4, 2014)
no assertion criteria provided
21.
GRCh37:
Chr19:42474547
GRCh38:
Chr19:41970395
ATP1A3Alternating hemiplegia of childhood 2Pathogenic
(May 4, 2014)
no assertion criteria provided
22.
GRCh37:
Chr19:42474557
GRCh38:
Chr19:41970405
ATP1A3Alternating hemiplegia of childhood 2, not providedPathogenic
(Oct 5, 2015)
criteria provided, multiple submitters, no conflicts
23.
GRCh37:
Chr19:42474557
GRCh38:
Chr19:41970405
ATP1A3Dystonia 12Pathogenic
(May 4, 2014)
no assertion criteria provided
24.
GRCh37:
Chr19:42474620
GRCh38:
Chr19:41970468
ATP1A3Dystonia 12Pathogenic
(May 4, 2014)
no assertion criteria provided
25.
GRCh37:
Chr19:42474640
GRCh38:
Chr19:41970488
ATP1A3Alternating hemiplegia of childhood 2Pathogenic
(May 4, 2014)
no assertion criteria provided
26.
GRCh37:
Chr19:42474640
GRCh38:
Chr19:41970488
ATP1A3Alternating hemiplegia of childhood 2Pathogenic
(May 4, 2014)
no assertion criteria provided
27.
GRCh37:
Chr19:42474642
GRCh38:
Chr19:41970490
ATP1A3Alternating hemiplegia of childhood 2Pathogenic
(May 4, 2014)
no assertion criteria provided
28.
GRCh37:
Chr19:42474646
GRCh38:
Chr19:41970494
ATP1A3Alternating hemiplegia of childhood 2Pathogenic
(May 4, 2014)
no assertion criteria provided
29.
GRCh37:
Chr19:42474685
GRCh38:
Chr19:41970533
ATP1A3Dystonia 12Pathogenic
(May 4, 2014)
no assertion criteria provided
30.
GRCh37:
Chr19:42474688
GRCh38:
Chr19:41970536
ATP1A3Alternating hemiplegia of childhood 2Pathogenic
(May 4, 2014)
no assertion criteria provided
31.
GRCh37:
Chr19:42474691
GRCh38:
Chr19:41970539
ATP1A3Dystonia 12, not providedPathogenic
(Mar 31, 2017)
criteria provided, single submitter
32.
GRCh37:
Chr19:42474694
GRCh38:
Chr19:41970542
ATP1A3Alternating hemiplegia of childhood 2Pathogenic
(May 4, 2014)
no assertion criteria provided
33.
GRCh37:
Chr19:42479781
GRCh38:
Chr19:41975629
ATP1A3Alternating hemiplegia of childhood 2Pathogenic
(May 4, 2014)
no assertion criteria provided
34.
GRCh37:
Chr19:42479781
GRCh38:
Chr19:41975629
ATP1A3Alternating hemiplegia of childhood 2Pathogenic
(May 4, 2014)
no assertion criteria provided
35.
GRCh37:
Chr19:42480611
GRCh38:
Chr19:41976459
ATP1A3Dystonia 12Pathogenic
(May 4, 2014)
no assertion criteria provided
36.
GRCh37:
Chr19:42482193
GRCh38:
Chr19:41978041
ATP1A3Dystonia 12Pathogenic
(May 4, 2014)
no assertion criteria provided
37.
GRCh37:
Chr19:42485926
GRCh38:
Chr19:41981774
ATP1A3Dystonia 12Pathogenic
(May 4, 2014)
no assertion criteria provided
38.
GRCh37:
Chr19:42486108
GRCh38:
Chr19:41981956
ATP1A3Dystonia 12Pathogenic
(May 4, 2014)
no assertion criteria provided
39.
GRCh37:
Chr19:42486140
GRCh38:
Chr19:41981988
ATP1A3Alternating hemiplegia of childhood 2Pathogenic
(May 4, 2014)
no assertion criteria provided
40.
GRCh37:
Chr19:42486143
GRCh38:
Chr19:41981991
ATP1A3Dystonia 12Pathogenic
(May 4, 2014)
no assertion criteria provided
41.
GRCh37:
Chr19:42486180
GRCh38:
Chr19:41982028
ATP1A3Alternating hemiplegia of childhood 2Pathogenic
(May 4, 2014)
no assertion criteria provided
42.
GRCh37:
Chr19:42486249
GRCh38:
Chr19:41982097
ATP1A3Alternating hemiplegia of childhood 2Pathogenic
(May 4, 2014)
no assertion criteria provided
43.
GRCh37:
Chr19:42486254
GRCh38:
Chr19:41982102
ATP1A3Alternating hemiplegia of childhood 2Pathogenic
(May 4, 2014)
no assertion criteria provided
44.
GRCh37:
Chr19:42489082-42489084
GRCh38:
Chr19:41984930-41984932
ATP1A3Dystonia 12Pathogenic
(May 4, 2014)
no assertion criteria provided
45.
GRCh37:
Chr19:42489098
GRCh38:
Chr19:41984946
ATP1A3Alternating hemiplegia of childhood 2Pathogenic
(May 4, 2014)
no assertion criteria provided
46.
GRCh37:
Chr19:42489234
GRCh38:
Chr19:41985082
ATP1A3Dystonia 12Pathogenic
(Jul 15, 2016)
criteria provided, single submitter
47.
GRCh37:
Chr19:42489242
GRCh38:
Chr19:41985090
ATP1A3Alternating hemiplegia of childhood 2Pathogenic
(May 4, 2014)
no assertion criteria provided
48.
GRCh37:
Chr19:42489242
GRCh38:
Chr19:41985090
ATP1A3Dystonia 12Pathogenic
(May 4, 2014)
no assertion criteria provided
49.
GRCh37:
Chr19:42490320
GRCh38:
Chr19:41986168
ATP1A3Alternating hemiplegia of childhood 2Pathogenic
(May 4, 2014)
no assertion criteria provided
50.
GRCh37:
Chr19:42490329
GRCh38:
Chr19:41986177
ATP1A3Seizures, Alternating hemiplegia of childhood 2, Depressed nasal bridge,
Epicanthus, Abnormality of earlobe, Ventriculomegaly
Pathogenic
(Jun 22, 2015)
criteria provided, single submitter
51.
GRCh37:
Chr19:42490329
GRCh38:
Chr19:41986177
ATP1A3Alternating hemiplegia of childhood 2Pathogenic
(May 4, 2014)
no assertion criteria provided
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