| - GRCh37:
- Chr19:42489255
- GRCh38:
- Chr19:41985103
| ATP1A3 | G270S, G281S, G283S | Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome | Likely benign
(Nov 7, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr19:42489523
- GRCh38:
- Chr19:41985371
| ATP1A3 | D220V, D231V, D233V | Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome | Uncertain significance
(Oct 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:42471892
- GRCh38:
- Chr19:41967740
| ATP1A3 | L948R, L959R, L961R | Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome | Uncertain significance | criteria provided, single submitter |
| - GRCh37:
- Chr19:42492180
- GRCh38:
- Chr19:41988028
| ATP1A3 | G100C, G102C, G89C | Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome | Likely pathogenic
(Nov 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:42473007
- GRCh38:
- Chr19:41968855
| ATP1A3 | V917L, V928L, V930L | Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome | Uncertain significance
(Nov 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:42489477
- GRCh38:
- Chr19:41985325
| ATP1A3 | F235L, F246L, F248L | Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome, Developmental and epileptic encephalopathy 99, Dystonia 12,
Alternating hemiplegia of childhood 2 | Benign
(Dec 5, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:42482839
- GRCh38:
- Chr19:41978687
| ATP1A3 | E517Q, E528Q, E530Q | Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome, not specified | Conflicting interpretations of pathogenicity
(May 4, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:42485958
- GRCh38:
- Chr19:41981806
| ATP1A3 | | Dystonia 12, Alternating hemiplegia of childhood 2, Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome,
Dystonia 12, Developmental and epileptic encephalopathy 99 | Likely benign
(Jul 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:42472925
- GRCh38:
- Chr19:41968773
| ATP1A3 | | Dystonia 12, Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome, Alternating hemiplegia of childhood 2,
Dystonia 12, Developmental and epileptic encephalopathy 99 | Likely benign
(Aug 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:42474522
- GRCh38:
- Chr19:41970370
| ATP1A3 | | Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome, Alternating hemiplegia of childhood 2, Dystonia 12,
Developmental and epileptic encephalopathy 99, Dystonia 12 | Likely benign
(Oct 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:42482125
- GRCh38:
- Chr19:41977973
| ATP1A3 | A636T, A647T, A649T | Dystonia 12, Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome, Alternating hemiplegia of childhood 2,
Dystonia 12, Inborn genetic diseases | Conflicting interpretations of pathogenicity
(Sep 29, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:42473723
- GRCh38:
- Chr19:41969571
| ATP1A3 | Q851R, Q862R, Q864R | not provided, Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome | Likely pathogenic
(Jul 20, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:42471803
- GRCh38:
- Chr19:41967651
| ATP1A3 | | Developmental and epileptic encephalopathy 99, not provided, Dystonia 12,
Alternating hemiplegia of childhood 2, Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome | Benign
(Nov 2, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:42480738
- GRCh38:
- Chr19:41976586
| ATP1A3 | | Developmental and epileptic encephalopathy 99, Dystonia 12, Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome,
not provided, Alternating hemiplegia of childhood 2 | Benign
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:42472917
- GRCh38:
- Chr19:41968765
| ATP1A3 | | Alternating hemiplegia of childhood 2, not provided, Developmental and epileptic encephalopathy 99,
Dystonia 12, Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome | Benign
(Nov 2, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:42490355
- GRCh38:
- Chr19:41986203
| ATP1A3 | | Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome, Alternating hemiplegia of childhood 2, Developmental and epileptic encephalopathy 99,
Dystonia 12, Dystonia 12 | Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:42485723
- GRCh38:
- Chr19:41981571
| ATP1A3 | | Dystonia 12, Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome, Developmental and epileptic encephalopathy 99,
Dystonia 12, Alternating hemiplegia of childhood 2 | Likely benign
(Aug 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:42485689
- GRCh38:
- Chr19:41981537
| ATP1A3 | A468S, A479S, A481S | Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome | Uncertain significance
(Sep 20, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr19:42474646
- GRCh38:
- Chr19:41970494
| ATP1A3 | T771I, T782I, T784I | Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome | Pathogenic
(Mar 2, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr19:42473716
- GRCh38:
- Chr19:41969564
| ATP1A3 | | Developmental and epileptic encephalopathy 99, Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome, Alternating hemiplegia of childhood 2,
Dystonia 12 | Benign/Likely benign
(Oct 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:42482783
- GRCh38:
- Chr19:41978631
| ATP1A3 | | Developmental and epileptic encephalopathy 99, Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome, Alternating hemiplegia of childhood 2,
Dystonia 12 | Benign/Likely benign
(Oct 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:42470842
- GRCh38:
- Chr19:41966690
| ATP1A3 | | Developmental and epileptic encephalopathy 99, Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome, Alternating hemiplegia of childhood 2,
Dystonia 12, not provided | Benign
(Dec 5, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:42473732
- GRCh38:
- Chr19:41969580
| ATP1A3 | G859A, G861A, G848A | Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome | Likely pathogenic
(May 20, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr19:42482192
- GRCh38:
- Chr19:41978040
| ATP1A3 | | Dystonia 12, Developmental and epileptic encephalopathy 99, Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome,
Alternating hemiplegia of childhood 2, Dystonia 12 | Likely benign
(Jul 16, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:42480688
- GRCh38:
- Chr19:41976536
| ATP1A3 | | Dystonia 12, Developmental and epileptic encephalopathy 99, Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome,
Alternating hemiplegia of childhood 2 | Benign
(Oct 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:42486166
- GRCh38:
- Chr19:41982014
| ATP1A3 | | Dystonia 12, Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome, Developmental and epileptic encephalopathy 99,
not provided, Alternating hemiplegia of childhood 2 | Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:42486118
- GRCh38:
- Chr19:41981966
| ATP1A3 | | Developmental and epileptic encephalopathy 99, Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome, not provided,
Alternating hemiplegia of childhood 2, Dystonia 12 | Benign/Likely benign
(Oct 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:42489322
- GRCh38:
- Chr19:41985170
| ATP1A3 | | Developmental and epileptic encephalopathy 99, Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome, Dystonia 12,
not provided, Alternating hemiplegia of childhood 2 | Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:42479818
- GRCh38:
- Chr19:41975666
| ATP1A3 | | Developmental and epileptic encephalopathy 99, Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome, Alternating hemiplegia of childhood 2,
Dystonia 12, not provided | Benign/Likely benign
(Oct 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:42486172
- GRCh38:
- Chr19:41982020
| ATP1A3 | | Developmental and epileptic encephalopathy 99, Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome, Dystonia 12,
Alternating hemiplegia of childhood 2 | Benign/Likely benign
(Jul 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:42482333
- GRCh38:
- Chr19:41978181
| ATP1A3 | | not provided, Dystonia 12, Developmental and epileptic encephalopathy 99,
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome, Alternating hemiplegia of childhood 2 | Benign
(Jul 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:42482885
- GRCh38:
- Chr19:41978733
| ATP1A3 | | not provided, Dystonia 12, Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome,
Dystonia 12, Developmental and epileptic encephalopathy 99, Alternating hemiplegia of childhood 2
| Likely benign
(Oct 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:42486057
- GRCh38:
- Chr19:41981905
| ATP1A3 | | Inborn genetic diseases, Dystonia 12, Alternating hemiplegia of childhood 2,
Developmental and epileptic encephalopathy 99, Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome, not provided
| Benign/Likely benign
(Jul 30, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:42471896
- GRCh38:
- Chr19:41967744
| ATP1A3 | G947W, G958W, G960W | Dystonia 12, Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome, Dystonia 12,
Alternating hemiplegia of childhood 2 | Pathogenic/Likely pathogenic
(Oct 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:42486076
- GRCh38:
- Chr19:41981924
| ATP1A3 | | Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome, Dystonia 12, Alternating hemiplegia of childhood 2,
Developmental and epileptic encephalopathy 99, Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome, Dystonia 12,
Alternating hemiplegia of childhood 2 | Uncertain significance
(Mar 30, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:42486053
- GRCh38:
- Chr19:41981901
| ATP1A3 | | Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome, Alternating hemiplegia of childhood 2, Dystonia 12,
Dystonia 12, Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome, Developmental and epileptic encephalopathy 99,
Alternating hemiplegia of childhood 2, Dystonia 12 | Conflicting interpretations of pathogenicity
(Aug 15, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:42485916
- GRCh38:
- Chr19:41981764
| ATP1A3 | | Developmental and epileptic encephalopathy 99, Dystonia 12, Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome,
not provided, Alternating hemiplegia of childhood 2 | Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:42489247
- GRCh38:
- Chr19:41985095
| ATP1A3 | | Alternating hemiplegia of childhood 2, Dystonia 12, Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome,
Developmental and epileptic encephalopathy 99, not provided | Benign/Likely benign
(Sep 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:42471438
- GRCh38:
- Chr19:41967286
| ATP1A3 | | Developmental and epileptic encephalopathy 99, Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome, not provided,
Alternating hemiplegia of childhood 2, Dystonia 12 | Benign
(Oct 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:42471849
- GRCh38:
- Chr19:41967697
| ATP1A3 | | Developmental and epileptic encephalopathy 99, Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome, not specified,
not provided, Alternating hemiplegia of childhood 2, Dystonia 12
| Benign/Likely benign
(May 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:42473622
- GRCh38:
- Chr19:41969470
| ATP1A3 | V885I, V898I, V896I | Developmental and epileptic encephalopathy 99, Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome, ATP1A3-related condition,
not provided, Alternating hemiplegia of childhood 2, Dystonia 12
| Conflicting interpretations of pathogenicity
(Jan 30, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:42474591
- GRCh38:
- Chr19:41970439
| ATP1A3 | | Developmental and epileptic encephalopathy 99, Dystonia 12, Alternating hemiplegia of childhood 2,
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome | Benign/Likely benign
(Oct 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:42492253
- GRCh38:
- Chr19:41988101
| ATP1A3 | | Developmental and epileptic encephalopathy 99, Dystonia 12, Dystonia 12,
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome, Alternating hemiplegia of childhood 2, Developmental and epileptic encephalopathy 99,
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome, not provided, Alternating hemiplegia of childhood 2
| Benign/Likely benign
(Nov 2, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:42486121
- GRCh38:
- Chr19:41981969
| ATP1A3 | | Developmental and epileptic encephalopathy 99, Dystonia 12, Alternating hemiplegia of childhood 2,
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome, not provided | Benign/Likely benign
(Aug 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:42479820
- GRCh38:
- Chr19:41975668
| ATP1A3 | D742Y, D753Y, D755Y | Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome | Likely pathogenic
(Jan 6, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr19:42490279
- GRCh38:
- Chr19:41986127
| ATP1A3 | M154V, M167V, M165V | Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome | Likely pathogenic
(Jan 6, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr19:42474692
- GRCh38:
- Chr19:41970540
| ATP1A3 | R756C, R767C, R769C | Alternating hemiplegia of childhood 2, Dystonia 12, Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome,
Alternating hemiplegia of childhood 2, Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome, not provided,
Dystonia 12, Inborn genetic diseases | Pathogenic/Likely pathogenic
(May 25, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:42485987
- GRCh38:
- Chr19:41981835
| ATP1A3 | | Developmental and epileptic encephalopathy 99, Inborn genetic diseases, Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome,
Dystonia 12, Alternating hemiplegia of childhood 2, not provided
| Benign/Likely benign
(Oct 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:42486262
- GRCh38:
- Chr19:41982110
| ATP1A3 | | Developmental and epileptic encephalopathy 99, Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome, Alternating hemiplegia of childhood 2,
Dystonia 12 | Benign/Likely benign
(Oct 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:42471446
- GRCh38:
- Chr19:41967294
| ATP1A3 | V990I, V1001I, V1003I | Alternating hemiplegia of childhood 2, Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome, Dystonia 12,
Developmental and epileptic encephalopathy 99, not provided, Dystonia 12
| Uncertain significance
(May 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:42479928
- GRCh38:
- Chr19:41975776
| ATP1A3 | G706R, G717R, G719R | Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome, not provided, Alternating hemiplegia of childhood 2,
Dystonia 12 | Conflicting interpretations of pathogenicity
(Sep 5, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:42498376
- GRCh38:
- Chr19:41994224
| ATP1A3, LOC130064543 | | Alternating hemiplegia of childhood 2, Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome, Developmental and epileptic encephalopathy 99,
Dystonia 12, Alternating hemiplegia of childhood 2, Dystonia 12
| Uncertain significance
(Oct 28, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:42498343-42498346
- GRCh38:
- Chr19:41994191-41994194
| ATP1A3, LOC130064543 | | Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome, Developmental and epileptic encephalopathy 99, Dystonia 12,
Alternating hemiplegia of childhood 2, Alternating hemiplegia of childhood, Dystonia 12
| Uncertain significance
(May 2, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:42498292
- GRCh38:
- Chr19:41994140
| ATP1A3, LOC130064543 | | Alternating hemiplegia of childhood 2, Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome, Developmental and epileptic encephalopathy 99,
Dystonia 12, Alternating hemiplegia of childhood 2, Dystonia 12
| Uncertain significance
(Nov 12, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:42498220
- GRCh38:
- Chr19:41994068
| ATP1A3, LOC130064543 | | Inborn genetic diseases, not specified, Developmental and epileptic encephalopathy 99,
Dystonia 12, Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome, not provided,
Alternating hemiplegia of childhood 2 | Benign/Likely benign
(Apr 21, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:42492476
- GRCh38:
- Chr19:41988324
| ATP1A3 | | not specified, Developmental and epileptic encephalopathy 99, Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome,
not provided, Alternating hemiplegia of childhood 2, Dystonia 12
| Benign
(Oct 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:42492238
- GRCh38:
- Chr19:41988086
| ATP1A3 | | Developmental and epileptic encephalopathy 99, Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome, not provided,
Alternating hemiplegia of childhood 2, Dystonia 12 | Benign/Likely benign
(May 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:42492157
- GRCh38:
- Chr19:41988005
| ATP1A3 | | Developmental and epileptic encephalopathy 99, Alternating hemiplegia of childhood 2, Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome,
not provided, Dystonia 12 | Benign/Likely benign
(Aug 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:42492088
- GRCh38:
- Chr19:41987936
| ATP1A3 | | not provided, Developmental and epileptic encephalopathy 99, Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome,
Dystonia 12, Alternating hemiplegia of childhood 2, Developmental and epileptic encephalopathy 99,
Alternating hemiplegia of childhood 2, Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome, Dystonia 12
| Benign/Likely benign
(Mar 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:42490376
- GRCh38:
- Chr19:41986224
| ATP1A3 | | Alternating hemiplegia of childhood 2, Developmental and epileptic encephalopathy 99, not provided,
Dystonia 12, Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome | Benign/Likely benign
(Jun 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:42489154
- GRCh38:
- Chr19:41985002
| ATP1A3 | | Developmental and epileptic encephalopathy 99, Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome, Alternating hemiplegia of childhood 2,
Dystonia 12 | Benign/Likely benign
(Aug 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:42486261
- GRCh38:
- Chr19:41982109
| ATP1A3 | | Developmental and epileptic encephalopathy 99, Alternating hemiplegia of childhood 2, Dystonia 12,
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome, not provided | Conflicting interpretations of pathogenicity
(May 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:42486054
- GRCh38:
- Chr19:41981902
| ATP1A3 | | Developmental and epileptic encephalopathy 99, Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome, Alternating hemiplegia of childhood 2,
Dystonia 12 | Benign/Likely benign
(Oct 15, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:42485895
- GRCh38:
- Chr19:41981743
| ATP1A3 | | Developmental and epileptic encephalopathy 99, Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome, not provided,
Alternating hemiplegia of childhood 2, Dystonia 12 | Benign
(Aug 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:42482888
- GRCh38:
- Chr19:41978736
| ATP1A3 | | Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome, Developmental and epileptic encephalopathy 99, Alternating hemiplegia of childhood 2,
Dystonia 12, not provided | Benign/Likely benign
(Jan 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:42482861
- GRCh38:
- Chr19:41978709
| ATP1A3 | | Developmental and epileptic encephalopathy 99, Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome, Alternating hemiplegia of childhood 2,
not provided, Dystonia 12 | Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:42482414
- GRCh38:
- Chr19:41978262
| ATP1A3 | | not provided, Developmental and epileptic encephalopathy 99, Dystonia 12,
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome, Alternating hemiplegia of childhood 2 | Benign/Likely benign
(May 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:42482126
- GRCh38:
- Chr19:41977974
| ATP1A3 | | Developmental and epileptic encephalopathy 99, Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome, Alternating hemiplegia of childhood 2,
Dystonia 12 | Benign/Likely benign
(Sep 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:42482076
- GRCh38:
- Chr19:41977924
| ATP1A3 | | Developmental and epileptic encephalopathy 99, Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome, Alternating hemiplegia of childhood 2,
not provided, Dystonia 12 | Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:42474624
- GRCh38:
- Chr19:41970472
| ATP1A3 | | Developmental and epileptic encephalopathy 99, Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome, not provided,
Alternating hemiplegia of childhood 2, Dystonia 12 | Benign
(Nov 2, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:42474467
- GRCh38:
- Chr19:41970315
| ATP1A3 | | Developmental and epileptic encephalopathy 99, Alternating hemiplegia of childhood 2, not provided,
Dystonia 12, Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome, Developmental and epileptic encephalopathy 99,
Dystonia 12, Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome, Alternating hemiplegia of childhood 2
| Benign/Likely benign
(Mar 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:42474392
- GRCh38:
- Chr19:41970240
| ATP1A3 | | not provided, Developmental and epileptic encephalopathy 99, Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome,
Dystonia 12, Alternating hemiplegia of childhood 2, Developmental and epileptic encephalopathy 99,
not specified, Alternating hemiplegia of childhood 2, Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome,
Dystonia 12 | Benign
(Oct 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:42473665
- GRCh38:
- Chr19:41969513
| ATP1A3 | | Developmental and epileptic encephalopathy 99, Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome, not provided,
Alternating hemiplegia of childhood 2, Dystonia 12 | Benign
(Oct 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:42471897
- GRCh38:
- Chr19:41967745
| ATP1A3 | | Developmental and epileptic encephalopathy 99, Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome, Alternating hemiplegia of childhood 2,
Dystonia 12 | Benign/Likely benign
(Dec 5, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:42471050
- GRCh38:
- Chr19:41966898
| ATP1A3 | | Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome, Alternating hemiplegia of childhood 2, not provided,
Dystonia 12 | Benign
(Jul 14, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:42470983
- GRCh38:
- Chr19:41966831
| ATP1A3 | | Developmental and epileptic encephalopathy 99, Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome, Alternating hemiplegia of childhood 2,
not provided, Dystonia 12 | Benign/Likely benign
(Dec 5, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:42470774
- GRCh38:
- Chr19:41966622
| ATP1A3 | | not provided, Alternating hemiplegia of childhood 2, Developmental and epileptic encephalopathy 99,
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome, Dystonia 12 | Benign/Likely benign
(Feb 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:42492296
- GRCh38:
- Chr19:41988144
| ATP1A3 | | Developmental and epileptic encephalopathy 99, not specified, Dystonia 12,
not provided, Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome, Alternating hemiplegia of childhood 2
| Benign
(Jun 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:42489096
- GRCh38:
- Chr19:41984944
| ATP1A3 | P323S, P336S, P334S | not provided, Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome | Pathogenic/Likely pathogenic
(Sep 17, 2020) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:42489089
- GRCh38:
- Chr19:41984937
| ATP1A3 | G325D, G336D, G338D | not provided, Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome | Pathogenic/Likely pathogenic
(Feb 3, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:42474691
- GRCh38:
- Chr19:41970539
| ATP1A3 | R756H, R769H, R767H | ATP1A3-associated neurological disorder, Inborn genetic diseases, Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome,
not specified, not provided, Alternating hemiplegia of childhood 2,
Dystonia 12 | Pathogenic/Likely pathogenic
(Sep 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:42489516
- GRCh38:
- Chr19:41985364
| ATP1A3 | | Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome, not provided, not specified,
Alternating hemiplegia of childhood 2, Dystonia 12 | Benign/Likely benign
(Oct 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:42474639
- GRCh38:
- Chr19:41970487
| ATP1A3 | | Developmental and epileptic encephalopathy 99, Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome, not specified,
not provided, Alternating hemiplegia of childhood 2, Dystonia 12
| Benign
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:42474427
- GRCh38:
- Chr19:41970275
| ATP1A3 | E818K, E829K, E831K | Inborn genetic diseases, Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome, not provided,
Alternating hemiplegia of childhood 2, Dystonia 12 | Pathogenic
(Mar 16, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:42471896
- GRCh38:
- Chr19:41967744
| ATP1A3 | G947R, G958R, G960R | Alternating hemiplegia of childhood 2, Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome, Dystonia 12,
not provided, Alternating hemiplegia of childhood 2, Dystonia 12
| Pathogenic
(Apr 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:42474436
- GRCh38:
- Chr19:41970284
| ATP1A3 | E815K, E826K, E828K | Dystonic disorder, Seizure, Dyskinesia,
Neurodevelopmental delay, Developmental and epileptic encephalopathy 99, Alternating hemiplegia of childhood 2,
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome, Dystonia 12, Inborn genetic diseases,
not specified, not providedAlternating hemiplegia of childhood 2,
Dystonia 12, Oculogyric crisis, Global developmental delay,
Hemiplegia, ...see more | Pathogenic
(Dec 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:42474557
- GRCh38:
- Chr19:41970405
| ATP1A3 | D801N, D812N, D814N | Inborn genetic diseases, Alternating hemiplegia of childhood 2, Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome,
Dystonia 12, ATP1A3-Related Disorders, not provided,
Alternating hemiplegia of childhood 2, Dystonia 12 | Pathogenic
(Sep 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:42472989
- GRCh38:
- Chr19:41968837
| ATP1A3 | D923N, D936N, D934N | ATP1A3-associated neurological disorder, Dystonia 12, Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome,
Alternating hemiplegia of childhood 2, not provided, Alternating hemiplegia of childhood 2,
Dystonia 12 | Pathogenic
(Aug 10, 2023) | criteria provided, multiple submitters, no conflicts |