Total 177 pathogenic variants reported for Dystonia 12 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_152296.5(ATP1A3):c.1838C>T (p.Thr613Met) SNV
Germline
Chr19:41978041 Pathogenic Dystonia 12
Condition: not provided
Alternating hemiplegia of childhood 2
ATP1A3-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA341233 rs_80356534

13 SubmittersRCV000013772RCV000726724RCV001004717RCV006636182

NM_152296.5(ATP1A3):c.821T>C (p.Ile274Thr) SNV
Germline
Chr19:41985090 Pathogenic Dystonia 12 No Assertion Criteria Provided
CA341234 rs_80356532

1 SubmittersRCV000013773

NM_152296.5(ATP1A3):c.829G>A (p.Glu277Lys) SNV
Germline
Chr19:41985082 Pathogenic/Likely pathogenic Dystonia 12
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA341235 rs_80356533

8 SubmittersRCV000013774RCV004719645

NM_152296.5(ATP1A3):c.2273T>G (p.Ile758Ser) SNV
Germline
Chr19:41970533 Likely pathogenic Dystonia 12
Condition: not provided
Criteria Provided
Single Submitter
CA341236 rs_80356535

2 SubmittersRCV000013775RCV001781260

NM_152296.5(ATP1A3):c.2338T>C (p.Phe780Leu) SNV
Germline
Chr19:41970468 Pathogenic Dystonia 12 No Assertion Criteria Provided
CA341237 rs_80356536

1 SubmittersRCV000013776

NM_152296.5(ATP1A3):c.2401G>T (p.Asp801Tyr) SNV
Germline
Chr19:41970405 Pathogenic Dystonia 12 Criteria Provided
Single Submitter
CA341238 rs_80356537

2 SubmittersRCV000013777

NM_152296.5(ATP1A3):c.2767G>A (p.Asp923Asn) SNV
Germline
Chr19:41968837 Pathogenic Dystonia 12
Alternating hemiplegia of childhood 2
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
Dystonia 12
Alternating hemiplegia of childhood 2
Condition: not provided
ATP1A3-associated neurological disorder
Seizure
ATP1A3-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA163277 rs_267606670

12 SubmittersRCV000013778RCV000128465RCV000763432RCV003233069RCV003389231RCV004577942RCV005867748

NM_152296.5(ATP1A3):c.2401G>A (p.Asp801Asn) SNV
Germline
Chr19:41970405 Pathogenic Alternating hemiplegia of childhood 2
Condition: not provided
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
Alternating hemiplegia of childhood 2
Dystonia 12
Dystonia 12
Inborn genetic diseases
Dystonic disorder
Tetraparesis
Oculogyric crisis
ATP1A3-related disorder
Developmental and epileptic encephalopathy 99
Developmental and epileptic encephalopathy 99
Alternating hemiplegia of childhood 2
Dystonia 12
ATP1A3-associated neurological disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA342902 rs_80356537

31 SubmittersRCV000030749RCV000413511RCV000515424RCV000644928RCV000624579RCV001004008RCV001265551RCV002281545RCV005243104RCV006741216

NM_152296.5(ATP1A3):c.2443G>A (p.Glu815Lys) SNV
Germline
Chr19:41970284 Pathogenic Alternating hemiplegia of childhood 2
Dystonia 12
Condition: not provided
Oculogyric crisis
Hemiplegia
Global developmental delay
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
Alternating hemiplegia of childhood 2
Dystonia 12
not specified
Inborn genetic diseases
Developmental and epileptic encephalopathy 99
Dystonic disorder
Seizure
Dyskinesia
Neurodevelopmental delay
Seizure
Developmental and epileptic encephalopathy
Criteria Provided
Multiple Submitters
No Conflicts
CA342903 rs_387907281

22 SubmittersRCV000030750RCV000469482RCV000432504RCV000626997RCV000763433RCV001192636RCV001267254RCV001807744RCV002243675RCV004546416RCV006697860

NM_152296.5(ATP1A3):c.2431T>C (p.Ser811Pro) SNV
Germline
Chr19:41970296 Pathogenic Alternating hemiplegia of childhood 2
Dystonia 12
Criteria Provided
Single Submitter
CA342904 rs_387907282

2 SubmittersRCV000030751RCV000541711

NM_152296.5(ATP1A3):c.2839G>A (p.Gly947Arg) SNV
Germline
Chr19:41967744 Pathogenic Alternating hemiplegia of childhood 2
Epilepsy
Hemiplegia
Condition: not provided
Dystonia 12
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
Alternating hemiplegia of childhood 2
Dystonia 12
ATP1A3-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA342905 rs_398122887

11 SubmittersRCV000030752RCV000415180RCV000418823RCV000476589RCV000763431RCV004549395

NM_152296.5(ATP1A3):c.2051C>T (p.Ser684Phe) SNV
Germline
Chr19:41976459 Conflicting classifications of pathogenicity Dystonia 12
Condition: not provided
Criteria Provided
Conflicting Classifications
CA345082 rs_397515577

2 SubmittersRCV000055992RCV006270345

NM_152296.5(ATP1A3):c.2839G>C (p.Gly947Arg) SNV
Germline
Chr19:41967744 Pathogenic Alternating hemiplegia of childhood 2
Dystonia 12
Criteria Provided
Single Submitter
CA345685 rs_398122887

3 SubmittersRCV000128466RCV001849915

NM_152296.5(ATP1A3):c.2452G>A (p.Glu818Lys) SNV
Germline
Chr19:41970275 Pathogenic Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
Inborn genetic diseases
Alternating hemiplegia of childhood 2
Dystonia 12
Condition: not provided
ATP1A3-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA204733 rs_587777771

18 SubmittersRCV000144250RCV000190725RCV000195001RCV000234480RCV000314245RCV006698094

NM_152296.5(ATP1A3):c.1323G>A (p.Ala441=) SNV
Germline
Chr19:41981616 Conflicting classifications of pathogenicity Alternating hemiplegia of childhood 2
Dystonia 12
not specified
Condition: not provided
Criteria Provided
Conflicting Classifications
CA171283 rs_34578730

13 SubmittersRCV000145247RCV000283640RCV000406176RCV000857914

NM_152296.5(ATP1A3):c.2780G>A (p.Cys927Tyr) SNV
Germline
Chr19:41968824 Likely pathogenic Dystonia 12
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
Developmental and epileptic encephalopathy 99
Alternating hemiplegia of childhood 2
Criteria Provided
Single Submitter
rs_606231444

1 SubmittersRCV004795845

NM_152296.5(ATP1A3):c.2767G>T (p.Asp923Tyr) SNV
Germline
Chr19:41968837 Pathogenic Alternating hemiplegia of childhood 2
Condition: not provided
Dystonia 12
Criteria Provided
Multiple Submitters
No Conflicts
CA346037 rs_267606670

3 SubmittersRCV000148329RCV000489720RCV000689821

NM_152296.5(ATP1A3):c.2600G>A (p.Gly867Asp) SNV
Germline
Chr19:41969523 Pathogenic Condition: not provided
Dystonia 12
Developmental and epileptic encephalopathy 99
Criteria Provided
Multiple Submitters
No Conflicts
CA346032 rs_606231442

3 SubmittersRCV002051815RCV002273963RCV006635930

NM_152296.5(ATP1A3):c.2542+1G>A SNV
Germline
Chr19:41970184 Pathogenic Alternating hemiplegia of childhood 2
Dystonia 12
Criteria Provided
Single Submitter
CA346031 rs_606231441

2 SubmittersRCV000148326RCV001850014

NM_152296.5(ATP1A3):c.2417T>G (p.Met806Arg) SNV
Germline
Chr19:41970389 Likely pathogenic Dystonia 12 Criteria Provided
Single Submitter
CA346027 rs_549006436

1 SubmittersRCV000644929

NM_152296.5(ATP1A3):c.2415C>G (p.Asp805Glu) SNV
Germline
Chr19:41970391 Pathogenic Dystonia 12 Criteria Provided
Single Submitter
CA346025 rs_606231439

1 SubmittersRCV001058556

NM_152296.5(ATP1A3):c.2318A>G (p.Asn773Ser) SNV
Germline
Chr19:41970488 Pathogenic Alternating hemiplegia of childhood 2
Condition: not provided
Dystonia 12
Criteria Provided
Multiple Submitters
No Conflicts
CA346021 rs_606231437

4 SubmittersRCV000148319RCV002510791RCV002514853

NM_152296.5(ATP1A3):c.2267G>A (p.Arg756His) SNV
Germline
Chr19:41970539 Pathogenic/Likely pathogenic Dystonia 12
Condition: not provided
Alternating hemiplegia of childhood 2
Inborn genetic diseases
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
ATP1A3-associated neurological disorder
ATP1A3-related disorder
Developmental and epileptic encephalopathy 99
Criteria Provided
Multiple Submitters
No Conflicts
CA346014 rs_606231435

19 SubmittersRCV000148315RCV000489717RCV000578251RCV000624894RCV000791274RCV002272140RCV005867931RCV006635929

NM_152296.5(ATP1A3):c.2264G>C (p.Gly755Ala) SNV
Germline
Chr19:41970542 Pathogenic Dystonia 12 Criteria Provided
Single Submitter
CA346010 rs_606231434

1 SubmittersRCV001381006

NM_152296.5(ATP1A3):c.2263G>T (p.Gly755Cys) SNV
Germline
Chr19:41975629 Pathogenic Dystonia 12
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA346013 rs_557052809

3 SubmittersRCV000816262RCV001091181

NM_152296.5(ATP1A3):c.2263G>A (p.Gly755Ser) SNV
Germline
Chr19:41975629 Pathogenic Dystonia 12 Criteria Provided
Single Submitter
CA346012 rs_557052809

1 SubmittersRCV003041374

NM_152296.5(ATP1A3):c.1072G>T (p.Gly358Cys) SNV
Germline
Chr19:41982028 Pathogenic Dystonia 12 Criteria Provided
Single Submitter
CA346007 rs_606231432

1 SubmittersRCV001381007

NM_152296.5(ATP1A3):c.821T>A (p.Ile274Asn) SNV
Germline
Chr19:41985090 Pathogenic Alternating hemiplegia of childhood 2
Dystonia 12
Criteria Provided
Single Submitter
CA346000 rs_80356532

2 SubmittersRCV000148305RCV005089717

NM_152296.5(ATP1A3):c.410C>T (p.Ser137Phe) SNV
Germline
Chr19:41986177 Pathogenic Alternating hemiplegia of childhood 2
Epicanthus
Abnormal earlobe morphology
Ventriculomegaly
Depressed nasal bridge
Seizure
Condition: not provided
Dystonia 12
Criteria Provided
Multiple Submitters
No Conflicts
CA345998 rs_542652468

4 SubmittersRCV000148303RCV000414799RCV001551275RCV001234241

NM_152296.5(ATP1A3):c.410C>A (p.Ser137Tyr) SNV
Germline
Chr19:41986177 Pathogenic Dystonia 12 Criteria Provided
Single Submitter
CA345997 rs_542652468

1 SubmittersRCV001206535

NM_152296.5(ATP1A3):c.971A>G (p.Glu324Gly) SNV
Germline
Chr19:41984940 Pathogenic/Likely pathogenic Inborn genetic diseases
Condition: not provided
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
Developmental and epileptic encephalopathy 99
Dystonia 12
Alternating hemiplegia of childhood 2
Criteria Provided
Multiple Submitters
No Conflicts
CA204723 rs_797044897

3 SubmittersRCV000190721RCV003327378RCV004796087

NM_152296.5(ATP1A3):c.967C>T (p.Pro323Ser) SNV
Germline
Chr19:41984944 Pathogenic/Likely pathogenic Condition: not provided
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
Dystonia 12
Criteria Provided
Multiple Submitters
No Conflicts
CA249413 rs_864309572

4 SubmittersRCV000203207RCV001808560RCV003765310

NM_152296.5(ATP1A3):c.946G>A (p.Gly316Ser) SNV
Germline
Chr19:41984965 Pathogenic Dystonia 12
ATP1A3-related disorder
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA358802 rs_869320661

5 SubmittersRCV000210848RCV003335231RCV006277750

NM_152296.5(ATP1A3):c.385G>A (p.Val129Met) SNV
Germline
Chr19:41986202 Pathogenic/Likely pathogenic Juvenile onset psychosis
Condition: not provided
Dystonia 12
Alternating hemiplegia of childhood 2
ATP1A3-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA10602480 rs_1555865401

5 SubmittersRCV000225081RCV002282097RCV002274003RCV003114440RCV004725134

NM_152296.5(ATP1A3):c.2324C>T (p.Pro775Leu) SNV
Germline
Chr19:41970482 Pathogenic/Likely pathogenic Condition: not provided
Inborn genetic diseases
Dystonia 12
Developmental and epileptic encephalopathy 99
ATP1A3-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA10603656 rs_886041396

11 SubmittersRCV000272828RCV001266079RCV001197881RCV003236579RCV005869200

NM_152296.5(ATP1A3):c.1296G>T (p.Val432=) SNV
Germline
Chr19:41981728 Conflicting classifications of pathogenicity Condition: not provided
Dystonia 12
Criteria Provided
Conflicting Classifications
CA9467681 rs_781928217

3 SubmittersRCV000415740RCV001487003

NM_152296.5(ATP1A3):c.1011C>T (p.Thr337=) SNV
Germline
Chr19:41982089 Conflicting classifications of pathogenicity Dystonia 12
Alternating hemiplegia of childhood 2
Criteria Provided
Conflicting Classifications
CA9467727 rs_782312004

2 SubmittersRCV000273518RCV000328686

NM_152296.5(ATP1A3):c.607-7C>A SNV
Germline
Chr19:41985430 Conflicting classifications of pathogenicity Alternating hemiplegia of childhood 2
Dystonia 12
Criteria Provided
Conflicting Classifications
CA9467826 rs_782819736

2 SubmittersRCV000337219RCV000371931

NM_152296.5(ATP1A3):c.270C>T (p.Phe90=) SNV
Germline
Chr19:41988023 Conflicting classifications of pathogenicity Alternating hemiplegia of childhood 2
Dystonia 12
Criteria Provided
Conflicting Classifications
CA9467911 rs_782539594

2 SubmittersRCV000307876RCV000362253

NM_152296.5(ATP1A3):c.153+7C>T SNV
Germline
Chr19:41988311 Conflicting classifications of pathogenicity Alternating hemiplegia of childhood 2
Dystonia 12
Condition: not provided
Criteria Provided
Conflicting Classifications
CA9467945 rs_782082118

3 SubmittersRCV000319208RCV000373996RCV000585257

NM_152296.5(ATP1A3):c.2307C>T (p.Thr769=) SNV
Germline
Chr19:41970499 Conflicting classifications of pathogenicity Dystonia 12
Alternating hemiplegia of childhood 2
Criteria Provided
Conflicting Classifications
CA10648759 rs_886054473

2 SubmittersRCV000347472RCV000402794

NM_152296.5(ATP1A3):c.1924G>A (p.Val642Ile) SNV
Germline
Chr19:41977955 Conflicting classifications of pathogenicity Alternating hemiplegia of childhood 2
Dystonia 12
ATP1A3-related disorder
Criteria Provided
Conflicting Classifications
CA9467537 rs_201391210

3 SubmittersRCV000358956RCV000395872RCV004549738

NM_152296.5(ATP1A3):c.1719C>A (p.Leu573=) SNV
Germline
Chr19:41978238 Conflicting classifications of pathogenicity Alternating hemiplegia of childhood 2
Dystonia 12
Criteria Provided
Conflicting Classifications
CA10652045 rs_886054474

2 SubmittersRCV000275215RCV000370082

NM_152296.5(ATP1A3):c.994-3C>G SNV
Germline
Chr19:41982109 Conflicting classifications of pathogenicity Dystonia 12
Alternating hemiplegia of childhood 2
Developmental and epileptic encephalopathy 99
Condition: not provided
ATP1A3-related disorder
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
Criteria Provided
Conflicting Classifications
CA9467730 rs_377256877

7 SubmittersRCV000270151RCV000364631RCV002259881RCV001706532RCV004549739RCV002259880

NM_152296.5(ATP1A3):c.2139C>G (p.Pro713=) SNV
Germline
Chr19:41975753 Conflicting classifications of pathogenicity Alternating hemiplegia of childhood 2
Dystonia 12
Criteria Provided
Conflicting Classifications
CA9467454 rs_141362710

2 SubmittersRCV000288675RCV000343601

NM_152296.5(ATP1A3):c.1303-15C>A SNV
Germline
Chr19:41981651 Conflicting classifications of pathogenicity Dystonia 12
Alternating hemiplegia of childhood 2
Criteria Provided
Conflicting Classifications
CA9467669 rs_782749835

2 SubmittersRCV000298126RCV000405974

NM_152296.5(ATP1A3):c.15A>G (p.Lys5=) SNV
Germline
Chr19:41988554 Conflicting classifications of pathogenicity Dystonia 12
Alternating hemiplegia of childhood 2
Criteria Provided
Conflicting Classifications
CA10652495 rs_886054476

2 SubmittersRCV000295277RCV000389712

NM_001040142.2(SCN2A):c.3972G>A (p.Arg1324=) SNV
Germline
Chr2:165373347 Likely pathogenic Condition: not provided
Dystonia 12
Criteria Provided
Multiple Submitters
No Conflicts
CA16042388 rs_1057518117

2 SubmittersRCV000413810RCV001838624

NM_152296.5(ATP1A3):c.2116G>A (p.Gly706Arg) SNV
Germline
Chr19:41975776 Pathogenic/Likely pathogenic Condition: not provided
Alternating hemiplegia of childhood 2
Dystonia 12
Developmental and epileptic encephalopathy 99
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA9467460 rs_782175860

8 SubmittersRCV000413243RCV000853257RCV001387923RCV004017606RCV002510573

NM_152296.5(ATP1A3):c.1387C>T (p.Arg463Cys) SNV
Germline
Chr19:41981552 Conflicting classifications of pathogenicity not specified
Dystonia 12
Alternating hemiplegia of childhood 2
Condition: not provided
Inborn genetic diseases
ATP1A3-related disorder
Criteria Provided
Conflicting Classifications
CA9467655 rs_150785666

10 SubmittersRCV000441666RCV000547051RCV001131091RCV001777161RCV002524753RCV004551422

NM_152296.5(ATP1A3):c.2763G>A (p.Trp921Ter) SNV
Germline
Chr19:41968841 Pathogenic Dystonia 12 Criteria Provided
Single Submitter
CA16616281 rs_1060500993

1 SubmittersRCV000467092

NM_152296.5(ATP1A3):c.2315G>A (p.Ser772Asn) SNV
Germline
Chr19:41970491 Pathogenic/Likely pathogenic Condition: not provided
Dystonia 12
Criteria Provided
Multiple Submitters
No Conflicts
CA16620856 rs_1064795234

2 SubmittersRCV000482035RCV001210745

NM_152296.5(ATP1A3):c.2266C>T (p.Arg756Cys) SNV
Germline
Chr19:41970540 Pathogenic/Likely pathogenic Condition: not provided
Alternating hemiplegia of childhood 2
Inborn genetic diseases
Dystonia 12
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
Dystonia 12
Alternating hemiplegia of childhood 2
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
Seizure
ATP1A3-related disorder
ATP1A3-associated neurological disorder
Autosomal dominant ATP1A3-related disorders
Criteria Provided
Multiple Submitters
No Conflicts
CA16621741 rs_1064797245

18 SubmittersRCV000488196RCV000501825RCV000624914RCV000692668RCV000850500RCV003335375RCV004586737RCV004737556RCV004787793RCV006696393

NM_152296.5(ATP1A3):c.2885C>A (p.Pro962His) SNV
Germline
Chr19:41967698 Conflicting classifications of pathogenicity Condition: not provided
Dystonia 12
not specified
Criteria Provided
Conflicting Classifications
CA308584673 rs_145179304

4 SubmittersRCV000488938RCV000693938RCV003387856

NM_152296.5(ATP1A3):c.968C>T (p.Pro323Leu) SNV
Germline
Chr19:41984943 Conflicting classifications of pathogenicity Condition: not provided
Dystonia 12
Criteria Provided
Conflicting Classifications
CA406052166 rs_1085307933

2 SubmittersRCV000489150RCV000703309

NM_152296.5(ATP1A3):c.2191G>A (p.Val731Ile) SNV
Germline
Chr19:41975701 Conflicting classifications of pathogenicity Condition: not provided
Dystonia 12
Criteria Provided
Conflicting Classifications
CA406041894 rs_1131691813

2 SubmittersRCV000493277RCV001234039

NM_152296.5(ATP1A3):c.1765G>T (p.Val589Phe) SNV
Germline
Chr19:41978192 Conflicting classifications of pathogenicity Condition: not provided
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
Developmental and epileptic encephalopathy 99
Dystonia 12
Alternating hemiplegia of childhood 2
Criteria Provided
Conflicting Classifications
CA406045551 rs_1131691436

2 SubmittersRCV000493388RCV006458425

NM_152296.5(ATP1A3):c.977T>G (p.Leu326Arg) SNV
Germline
Chr19:41984934 Pathogenic/Likely pathogenic Condition: not provided
Dystonia 12
Criteria Provided
Multiple Submitters
No Conflicts
CA406052127 rs_1131691307

2 SubmittersRCV000493714RCV001060259

NM_152296.5(ATP1A3):c.2224G>T (p.Asp742Tyr) SNV
Germline
Chr19:41975668 Pathogenic/Likely pathogenic Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
Dystonia 12
Criteria Provided
Multiple Submitters
No Conflicts
CA406041744 rs_1135401822

2 SubmittersRCV000496169RCV006463111

NM_152296.5(ATP1A3):c.460A>G (p.Met154Val) SNV
Germline
Chr19:41986127 Likely pathogenic Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
Developmental and epileptic encephalopathy 99
Dystonia 12
Alternating hemiplegia of childhood 2
Intellectual disability
Criteria Provided
Multiple Submitters
No Conflicts
CA406055012 rs_1135401821

3 SubmittersRCV000496204RCV006605274RCV005621958

NM_152296.5(ATP1A3):c.2489G>A (p.Arg830Gln) SNV
Germline
Chr19:41970238 Conflicting classifications of pathogenicity not specified
Dystonia 12
Condition: not provided
Criteria Provided
Conflicting Classifications
CA9467372 rs_368371895

3 SubmittersRCV000500150RCV000697449RCV003326445

NM_152296.5(ATP1A3):c.739G>A (p.Val247Met) SNV
Germline
Chr19:41985172 Conflicting classifications of pathogenicity not specified
Dystonia 12
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA9467783 rs_782227665

3 SubmittersRCV000502583RCV001857074RCV005278577

NM_152296.5(ATP1A3):c.2653G>A (p.Val885Ile) SNV
Germline
Chr19:41969470 Conflicting classifications of pathogenicity Condition: not provided
Dystonia 12
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
Developmental and epileptic encephalopathy 99
Alternating hemiplegia of childhood 2
ATP1A3-related disorder
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA9467329 rs_149600313

7 SubmittersRCV000538377RCV001086631RCV002260003RCV002260004RCV002260002RCV004553233RCV005286124

NM_152296.5(ATP1A3):c.2408G>A (p.Gly803Asp) SNV
Germline
Chr19:41970398 Pathogenic/Likely pathogenic Dystonia 12
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA406039252 rs_1555859571

2 SubmittersRCV000525007RCV005632483

NM_152296.5(ATP1A3):c.191G>A (p.Arg64Gln) SNV
Germline
Chr19:41988102 Conflicting classifications of pathogenicity Dystonia 12
Condition: not provided
not specified
Developmental and epileptic encephalopathy 99
Inborn genetic diseases
ATP1A3-related disorder
Criteria Provided
Conflicting Classifications
CA9467926 rs_201573515

6 SubmittersRCV000560382RCV001662571RCV003317269RCV003156051RCV003302853RCV004553231

NM_152296.5(ATP1A3):c.1388G>A (p.Arg463His) SNV
Germline
Chr19:41981551 Conflicting classifications of pathogenicity Dystonia 12
Condition: not provided
Criteria Provided
Conflicting Classifications
CA9467654 rs_782499746

2 SubmittersRCV000559746RCV004791554

NM_152296.5(ATP1A3):c.2788C>T (p.Arg930Trp) SNV
Germline
Chr19:41968816 Conflicting classifications of pathogenicity Condition: not provided
Dystonia 12
Criteria Provided
Conflicting Classifications
CA406035882 rs_1555859150

2 SubmittersRCV000585512RCV003129931

NM_152296.5(ATP1A3):c.2771T>C (p.Leu924Pro) SNV
Germline
Chr19:41968833 Pathogenic Inborn genetic diseases
Dystonia 12
Criteria Provided
Multiple Submitters
No Conflicts
CA406035981 rs_1555859157

2 SubmittersRCV000622298RCV001047167

NM_152296.5(ATP1A3):c.1124G>A (p.Arg375His) SNV
Germline
Chr19:41981976 Conflicting classifications of pathogenicity Inborn genetic diseases
Dystonia 12
Condition: not provided
Criteria Provided
Conflicting Classifications
CA406051049 rs_200891944

3 SubmittersRCV000623342RCV001855295RCV004777770

NM_152296.5(ATP1A3):c.958G>C (p.Ala320Pro) SNV
Germline
Chr19:41984953 Pathogenic/Likely pathogenic Delayed speech and language development
Hemiplegia
Oculogyric crisis
Apnea
Seizure
Dystonia 12
Criteria Provided
Multiple Submitters
No Conflicts
CA406052217 rs_879255368

2 SubmittersRCV000626998RCV002529802

NM_152296.5(ATP1A3):c.2974G>C (p.Asp992His) SNV
Germline
Chr19:41967288 Conflicting classifications of pathogenicity Dystonia 12
Condition: not provided
Criteria Provided
Conflicting Classifications
CA406035074 rs_606231447

2 SubmittersRCV000696859RCV004817937

NM_152296.5(ATP1A3):c.1303-5T>G SNV
Germline
Chr19:41981641 Conflicting classifications of pathogenicity Dystonia 12
Condition: not provided
Criteria Provided
Conflicting Classifications
CA9467668 rs_782123500

2 SubmittersRCV000699183RCV000762025

NM_152296.5(ATP1A3):c.2677G>C (p.Gly893Arg) SNV
Germline
Chr19:41969446 Likely pathogenic Dystonia 12 Criteria Provided
Single Submitter
CA406037666 rs_1568853466

1 SubmittersRCV000705732

NM_152296.5(ATP1A3):c.7-2A>C SNV
Germline
Chr19:41988564 Conflicting classifications of pathogenicity Condition: not provided
Dystonia 12
Criteria Provided
Conflicting Classifications
CA406058107 rs_1555866356

2 SubmittersRCV000762026RCV003514409

NM_152296.5(ATP1A3):c.1192+7G>A SNV
Germline
Chr19:41981901 Conflicting classifications of pathogenicity Dystonia 12
Alternating hemiplegia of childhood 2
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
Dystonia 12
Dystonia 12
Developmental and epileptic encephalopathy 99
Alternating hemiplegia of childhood 2
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
ATP1A3-related disorder
Criteria Provided
Conflicting Classifications
CA9467708 rs_374826826

3 SubmittersRCV000767899RCV001439895RCV003224388RCV004547960

NM_152296.5(ATP1A3):c.1176C>T (p.Thr392=) SNV
Germline
Chr19:41981924 Conflicting classifications of pathogenicity 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
Alternating hemiplegia of childhood 2
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
Dystonia 12
Criteria Provided
Conflicting Classifications
CA507695014 rs_1353417724

2 SubmittersRCV000767900RCV003224389RCV003514410

NM_152296.5(ATP1A3):c.2303A>G (p.Tyr768Cys) SNV
Germline
Chr19:41970503 Likely pathogenic Dystonia 12 Criteria Provided
Single Submitter
CA406039653 rs_1599706613

1 SubmittersRCV000797584

NM_152296.5(ATP1A3):c.1790G>A (p.Arg597His) SNV
Germline
Chr19:41978167 Likely pathogenic Dystonia 12
Developmental and epileptic encephalopathy 99
Criteria Provided
Multiple Submitters
No Conflicts
CA406045439 rs_1599715341

2 SubmittersRCV000813878RCV006741301

NM_152296.5(ATP1A3):c.55C>T (p.Arg19Cys) SNV
Germline
Chr19:41988514 Conflicting classifications of pathogenicity Dystonia 12
Alternating hemiplegia of childhood 2
Condition: not provided
Inborn genetic diseases
not specified
Criteria Provided
Conflicting Classifications
CA9467977 rs_782229302

6 SubmittersRCV000803350RCV001128681RCV001777177RCV005502907RCV006692731

NM_152296.5(ATP1A3):c.1302+1G>A SNV
Germline
Chr19:41981721 Likely pathogenic Dystonia 12 Criteria Provided
Single Submitter
CA406050101 rs_1599719130

1 SubmittersRCV000793132

NM_152296.5(ATP1A3):c.2543-6T>A SNV
Germline
Chr19:41969586 Conflicting classifications of pathogenicity Condition: not provided
Dystonia 12
Criteria Provided
Conflicting Classifications
CA915952981 rs_1599705282

3 SubmittersRCV000842263RCV001858439

NM_152296.5(ATP1A3):c.2839G>T (p.Gly947Trp) SNV
Germline
Chr19:41967744 Pathogenic/Likely pathogenic Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
Alternating hemiplegia of childhood 2
Dystonia 12
Dystonia 12
Criteria Provided
Multiple Submitters
No Conflicts
CA406035620 rs_398122887

2 SubmittersRCV000850517RCV001039394

NM_152296.5(ATP1A3):c.724+8G>A SNV
Germline
Chr19:41985298 Conflicting classifications of pathogenicity Dystonia 12
not specified
Criteria Provided
Conflicting Classifications
CA9467805 rs_781886157

2 SubmittersRCV001416947RCV004782578

NM_152296.5(ATP1A3):c.94-5C>T SNV
Germline
Chr19:41988382 Conflicting classifications of pathogenicity Dystonia 12
not specified
Condition: not provided
Criteria Provided
Conflicting Classifications
CA915952984 rs_1599726017

3 SubmittersRCV001489765RCV004768746RCV006650579

NM_152296.5(ATP1A3):c.2252G>A (p.Gly751Glu) SNV
Unknown
Chr19:41975640 Likely pathogenic Dystonia 12 Criteria Provided
Single Submitter
CA406041610 rs_1599712456

1 SubmittersRCV000990221

NM_152296.5(ATP1A3):c.2195C>A (p.Ser732Tyr) SNV
Unknown
Chr19:41975697 Likely pathogenic Dystonia 12 Criteria Provided
Single Submitter
CA406041876 rs_1599712523

1 SubmittersRCV000990222

NM_152296.5(ATP1A3):c.1036T>C (p.Cys346Arg) SNV
Unknown
Chr19:41982064 Likely pathogenic Dystonia 12 Criteria Provided
Single Submitter
CA406051557 rs_1599719534

1 SubmittersRCV000990223

NM_152296.5(ATP1A3):c.1932G>A (p.Gln644=) SNV
Germline
Chr19:41977947 Conflicting classifications of pathogenicity Condition: not provided
Dystonia 12
Criteria Provided
Conflicting Classifications
CA507586320 rs_1599715062

2 SubmittersRCV000996933RCV003626654

NM_152296.5(ATP1A3):c.569C>T (p.Pro190Leu) SNV
Germline
Chr19:41985901 Conflicting classifications of pathogenicity Condition: not provided
Dystonia 12
Criteria Provided
Conflicting Classifications
CA406054351 rs_1599723609

3 SubmittersRCV000996936RCV002550704

NM_152296.5(ATP1A3):c.2332A>C (p.Thr778Pro) SNV
Germline
Chr19:41970474 Likely pathogenic Dystonia 12 Criteria Provided
Single Submitter
CA406039551 rs_1599706511

1 SubmittersRCV000995499

NM_152296.5(ATP1A3):c.266G>C (p.Gly89Ala) SNV
Germline
Chr19:41988027 Pathogenic/Likely pathogenic Dystonia 12
Condition: not provided
Hereditary ataxia
Criteria Provided
Multiple Submitters
No Conflicts
CA406056451 rs_1599725621

4 SubmittersRCV000995500RCV003442137RCV005626290

NM_152296.5(ATP1A3):c.2438C>T (p.Ala813Val) SNV
Germline
Chr19:41970289 Conflicting classifications of pathogenicity Alternating hemiplegia of childhood 2
Condition: not provided
Neurodevelopmental delay
Dystonia 12
Criteria Provided
Conflicting Classifications
CA406038997 rs_2514032524

4 SubmittersRCV001004671RCV001585916RCV002274115RCV003626655

NM_152296.5(ATP1A3):c.2616C>A (p.Asn872Lys) SNV
Germline
Chr19:41969507 Conflicting classifications of pathogenicity Dystonia 12
Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA9467335 rs_782057287

3 SubmittersRCV001066027RCV001797153RCV006726091

NM_152296.5(ATP1A3):c.2407G>C (p.Gly803Arg) SNV
Germline
Chr19:41970399 Likely pathogenic Dystonia 12 Criteria Provided
Single Submitter
CA406039255 rs_2075090666

1 SubmittersRCV001056665

NM_152296.5(ATP1A3):c.128G>A (p.Arg43Gln) SNV
Germline
Chr19:41988343 Conflicting classifications of pathogenicity Dystonia 12
Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA9467949 rs_782453913

4 SubmittersRCV001048072RCV003425895RCV004031492

NM_152296.5(ATP1A3):c.2542+1G>C SNV
Germline
Chr19:41970184 Pathogenic Dystonia 12 Criteria Provided
Single Submitter
CA406038530 rs_606231441

1 SubmittersRCV001049962

NM_152296.5(ATP1A3):c.936C>A (p.Ile312=) SNV
Germline
Chr19:41984975 Conflicting classifications of pathogenicity Alternating hemiplegia of childhood 2
Dystonia 12
Criteria Provided
Conflicting Classifications
CA308597208 rs_782140994

2 SubmittersRCV001130473RCV001130474

NM_152296.5(ATP1A3):c.3013+12C>T SNV
Germline
Chr19:41967237 Conflicting classifications of pathogenicity Dystonia 12
Alternating hemiplegia of childhood 2
Criteria Provided
Conflicting Classifications
CA9467226 rs_782424595

2 SubmittersRCV001133794RCV001133795

NM_152296.5(ATP1A3):c.2418+9T>A SNV
Germline
Chr19:41970379 Conflicting classifications of pathogenicity Dystonia 12
Alternating hemiplegia of childhood 2
Criteria Provided
Conflicting Classifications
CA308586479 rs_950336124

2 SubmittersRCV001130252RCV001130251

NM_152296.5(ATP1A3):c.954C>G (p.Ile318Met) SNV
Germline
Chr19:41984957 Pathogenic/Likely pathogenic Alternating hemiplegia of childhood 2
Dystonia 12
Dystonia 12
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA406052240 rs_529241207

3 SubmittersRCV001257081RCV002560179RCV005232166

NM_152296.5(ATP1A3):c.1930C>T (p.Gln644Ter) SNV
Germline
Chr19:41977949 Conflicting classifications of pathogenicity Dystonia 12
Inborn genetic diseases
Condition: not provided
Criteria Provided
Conflicting Classifications
CA406044833 rs_1555861946

3 SubmittersRCV001214555RCV004963216RCV005630883

NM_152296.5(ATP1A3):c.2768A>C (p.Asp923Ala) SNV
Germline
Chr19:41968836 Pathogenic Dystonia 12 Criteria Provided
Single Submitter
CA406035996 rs_2075071528

1 SubmittersRCV001235897

NM_152296.5(ATP1A3):c.2921+1G>C SNV
Germline
Chr19:41967661 Likely pathogenic Dystonia 12 Criteria Provided
Single Submitter
CA406035326 rs_2075058462

1 SubmittersRCV001300685

NM_152296.5(ATP1A3):c.2153C>A (p.Ala718Asp) SNV
Germline
Chr19:41975739 Conflicting classifications of pathogenicity Dystonia 12
Alternating hemiplegia of childhood 2
Criteria Provided
Conflicting Classifications
CA406042065 rs_2075158829

2 SubmittersRCV001294683RCV005253784

NM_152296.5(ATP1A3):c.1728G>A (p.Val576=) SNV
Germline
Chr19:41978229 Conflicting classifications of pathogenicity Dystonia 12
Condition: not provided
Criteria Provided
Conflicting Classifications
CA308591802 rs_370436157

2 SubmittersRCV001301699RCV006279556

NM_152296.5(ATP1A3):c.562C>T (p.Arg188Ter) SNV
Germline
Chr19:41985908 Conflicting classifications of pathogenicity Dystonia 12
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA406054375 rs_2075282510

2 SubmittersRCV001297560RCV004967967

NM_152296.5(ATP1A3):c.2887G>A (p.Gly963Ser) SNV
Germline
Chr19:41967696 Conflicting classifications of pathogenicity Dystonia 12
ATP1A3-related disorder
Criteria Provided
Conflicting Classifications
CA406035457 rs_200582951

2 SubmittersRCV001319742RCV004548160

NM_152296.5(ATP1A3):c.1825G>A (p.Asp609Asn) SNV
Germline
Chr19:41978054 Conflicting classifications of pathogenicity Dystonia 12
Condition: not provided
Inborn genetic diseases
Epilepsy
Criteria Provided
Conflicting Classifications
CA406045252 rs_2075190697

5 SubmittersRCV001321417RCV002224061RCV006659618RCV006730142

NM_152296.5(ATP1A3):c.2144T>C (p.Leu715Pro) SNV
Germline
Chr19:41975748 Pathogenic/Likely pathogenic Dystonia 12
Developmental and epileptic encephalopathy 99
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA406042104 rs_2075159021

3 SubmittersRCV001342673RCV002510592RCV004697115

NM_152296.5(ATP1A3):c.1438-2A>G SNV
Germline
Chr19:41978800 Conflicting classifications of pathogenicity Dystonia 12
Inborn genetic diseases
Condition: not provided
Criteria Provided
Conflicting Classifications
CA406047626 rs_2075199553

3 SubmittersRCV001342144RCV004968075RCV005630927

NM_152296.5(ATP1A3):c.724+1G>T SNV
Germline
Chr19:41985305 Likely pathogenic Dystonia 12 Criteria Provided
Single Submitter
CA406053299 rs_2075276177

1 SubmittersRCV001352343

NM_152296.5(ATP1A3):c.3013+1G>A SNV
Germline
Chr19:41967248 Conflicting classifications of pathogenicity Dystonia 12
Condition: not provided
Criteria Provided
Conflicting Classifications
CA406034927 rs_2145941195

2 SubmittersRCV001369157RCV005256781

NM_152296.5(ATP1A3):c.2689-1G>T SNV
Unknown
Chr19:41968916 Likely pathogenic Dystonia 12 Criteria Provided
Single Submitter
CA406036497 rs_2145944794

1 SubmittersRCV001726499

NM_152296.5(ATP1A3):c.1073G>A (p.Gly358Asp) SNV
Germline
Chr19:41982027 Pathogenic 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
Criteria Provided
Multiple Submitters
No Conflicts
CA406051286 rs_1555863693

3 SubmittersRCV001389186RCV004796628

NM_152296.5(ATP1A3):c.1072G>A (p.Gly358Ser) SNV
Germline
Chr19:41982028 Pathogenic Dystonia 12 Criteria Provided
Single Submitter
CA406051289 rs_606231432

1 SubmittersRCV001381008

NM_152296.5(ATP1A3):c.2943C>T (p.Ala981=) SNV
Germline
Chr19:41967319 Conflicting classifications of pathogenicity Dystonia 12
Condition: not provided
Criteria Provided
Conflicting Classifications
CA507580019 rs_1439299124

2 SubmittersRCV001414791RCV005409821

NM_152296.5(ATP1A3):c.2095-6C>T SNV
Germline
Chr19:41975803 Conflicting classifications of pathogenicity Dystonia 12
not specified
Criteria Provided
Conflicting Classifications
CA633471706 rs_1555860861

2 SubmittersRCV001399760RCV005408889

NM_152296.5(ATP1A3):c.2592A>T (p.Ala864=) SNV
Germline
Chr19:41969531 Conflicting classifications of pathogenicity Dystonia 12
Condition: not provided
Criteria Provided
Conflicting Classifications
CA507582846 rs_879984755

2 SubmittersRCV001491041RCV005051907

NM_152296.5(ATP1A3):c.2677G>A (p.Gly893Arg) SNV
Germline
Chr19:41969446 Pathogenic Condition: not provided
Dystonia 12
See cases
Criteria Provided
Multiple Submitters
No Conflicts
CA406037664 rs_1568853466

3 SubmittersRCV001546327RCV002568966RCV006683885

NM_152296.5(ATP1A3):c.1088T>C (p.Ile363Thr) SNV
Germline
Chr19:41982012 Pathogenic Alternating hemiplegia of childhood 2
Dystonia 12
Criteria Provided
Single Submitter
CA406051192 rs_2145972483

2 SubmittersRCV001667867RCV001882766

NM_152296.5(ATP1A3):c.2974G>A (p.Asp992Asn) SNV
Germline
Chr19:41967288 Conflicting classifications of pathogenicity Condition: not provided
Dystonia 12
Criteria Provided
Conflicting Classifications
CA406035073 rs_606231447

2 SubmittersRCV001757861RCV002032779

NM_152296.5(ATP1A3):c.1081T>C (p.Ser361Pro) SNV
Germline
Chr19:41982019 Pathogenic Developmental and epileptic encephalopathy 99
Dystonia 12
Criteria Provided
Single Submitter
CA406051224 rs_2145972497

2 SubmittersRCV001777183RCV006557710

NM_152296.5(ATP1A3):c.1429A>T (p.Lys477Ter) SNV
Germline
Chr19:41981510 Pathogenic Dystonia 12 Criteria Provided
Single Submitter
CA406049212 rs_2145971509

1 SubmittersRCV001863934

NM_152296.5(ATP1A3):c.1906G>A (p.Ala636Thr) SNV
Germline
Chr19:41977973 Conflicting classifications of pathogenicity Dystonia 12
Dystonia 12
Alternating hemiplegia of childhood 2
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
Inborn genetic diseases
Condition: not provided
Criteria Provided
Conflicting Classifications
CA9467541 rs_782744167

4 SubmittersRCV001972146RCV002266066RCV002561520RCV005242133

NM_152296.5(ATP1A3):c.1108A>G (p.Thr370Ala) SNV
Germline
Chr19:41981992 Likely pathogenic Dystonia 12 Criteria Provided
Single Submitter
CA406051109 rs_2145972442

1 SubmittersRCV001977812

NM_152296.5(ATP1A3):c.973G>C (p.Gly325Arg) SNV
Germline
Chr19:41984938 Conflicting classifications of pathogenicity Dystonia 12 Criteria Provided
Conflicting Classifications
CA406052146 rs_2145977694

3 SubmittersRCV002017694

NM_152296.5(ATP1A3):c.2095-1G>A SNV
Germline
Chr19:41975798 Likely pathogenic Dystonia 12 Criteria Provided
Single Submitter
CA406042342 rs_2145959709

1 SubmittersRCV002044429

NM_152296.5(ATP1A3):c.1630+2T>C SNV
Germline
Chr19:41978604 Likely pathogenic Dystonia 12 Criteria Provided
Single Submitter
CA406046324 rs_2145965854

1 SubmittersRCV001986864

NM_152296.5(ATP1A3):c.2851G>A (p.Glu951Lys) SNV
Germline
Chr19:41967732 Likely pathogenic Dystonia 12 Criteria Provided
Single Submitter
CA406035581 rs_2145942372

2 SubmittersRCV002010428

NM_152296.5(ATP1A3):c.1959C>A (p.Cys653Ter) SNV
Germline
Chr19:41976551 Conflicting classifications of pathogenicity Dystonia 12
Condition: not provided
Criteria Provided
Conflicting Classifications
CA406043575 rs_782105093

2 SubmittersRCV001984662RCV004770293

NM_152296.5(ATP1A3):c.2767G>C (p.Asp923His) SNV
Germline
Chr19:41968837 Pathogenic Dystonia 12 Criteria Provided
Single Submitter
CA406036003 rs_267606670

1 SubmittersRCV002249284

NM_152296.5(ATP1A3):c.2225A>T (p.Asp742Val) SNV
Germline
Chr19:41975667 Pathogenic Dystonia 12 Criteria Provided
Single Submitter
CA406041739 rs_2145959393

1 SubmittersRCV002249285

NM_152296.5(ATP1A3):c.1549G>C (p.Glu517Gln) SNV
Germline
Chr19:41978687 Conflicting classifications of pathogenicity not specified
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
Dystonia 12
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA406046838 rs_782583311

4 SubmittersRCV002247057RCV003138125RCV003626696RCV005281154

NM_152296.5(ATP1A3):c.2267G>T (p.Arg756Leu) SNV
Germline
Chr19:41970539 Pathogenic Dystonia 12
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
No Assertion Criteria Provided
CA406039782 rs_606231435

2 SubmittersRCV002274491RCV005865104

NM_152296.5(ATP1A3):c.2428A>G (p.Ile810Val) SNV
Germline
Chr19:41970299 Conflicting classifications of pathogenicity Condition: not provided
Dystonia 12
Criteria Provided
Conflicting Classifications
CA406039036 rs_606231440

2 SubmittersRCV002511224RCV003514594

NM_152296.5(ATP1A3):c.2116G>C (p.Gly706Arg) SNV
Germline
Chr19:41975776 Pathogenic Dystonia 12
Inborn genetic diseases
Seizure
Criteria Provided
Multiple Submitters
No Conflicts
CA406042217 rs_782175860

3 SubmittersRCV002601844RCV005742452RCV005624503

NM_152296.5(ATP1A3):c.2232C>A (p.Asn744Lys) SNV
Germline
Chr19:41975660 Conflicting classifications of pathogenicity Dystonia 12
Condition: not provided
Criteria Provided
Conflicting Classifications
CA406041704 rs_2514047010

2 SubmittersRCV002756830RCV006251159

NM_152296.5(ATP1A3):c.281T>C (p.Leu94Pro) SNV
Germline
Chr19:41988012 Pathogenic Dystonia 12 Criteria Provided
Single Submitter
CA406056371 rs_2514084596

1 SubmittersRCV002795956

NM_152296.5(ATP1A3):c.2759A>C (p.Gln920Pro) SNV
Germline
Chr19:41968845 Pathogenic Dystonia 12 Criteria Provided
Single Submitter
CA406036056 rs_2075071667

1 SubmittersRCV002909619

NM_152296.5(ATP1A3):c.1109C>T (p.Thr370Ile) SNV
Germline
Chr19:41981991 Pathogenic Dystonia 12 Criteria Provided
Single Submitter
CA406051103 rs_573535377

1 SubmittersRCV003019546

NM_152296.5(ATP1A3):c.2051C>A (p.Ser684Tyr) SNV
Germline
Chr19:41976459 Likely pathogenic Dystonia 12 Criteria Provided
Single Submitter
CA406042773 rs_397515577

1 SubmittersRCV003039836

NM_152296.5(ATP1A3):c.358-1G>A SNV
Germline
Chr19:41986230 Likely pathogenic ATP1A3-associated neurological disorder
Dystonia 12
Criteria Provided
Multiple Submitters
No Conflicts
CA406055771 rs_2514079611

2 SubmittersRCV003123549RCV006473638

NM_152296.5(ATP1A3):c.2049A>T (p.Thr683=) SNV
Germline
Chr19:41976461 Conflicting classifications of pathogenicity Condition: not provided
Dystonia 12
Criteria Provided
Conflicting Classifications
CA507585250 rs_781828729

2 SubmittersRCV003143612RCV003778826

NM_152296.5(ATP1A3):c.1079C>G (p.Thr360Arg) SNV
Germline
Chr19:41982021 Pathogenic/Likely pathogenic Alternating hemiplegia of childhood 2
Dystonia 12
Criteria Provided
Multiple Submitters
No Conflicts
CA406051236 rs_2514066639

2 SubmittersRCV003223518RCV003333250

NM_152296.5(ATP1A3):c.2240C>A (p.Ser747Tyr) SNV
Germline
Chr19:41975652 Pathogenic Dystonia 12 Criteria Provided
Single Submitter
CA406041669 rs_2514046994

1 SubmittersRCV003515580

NM_152296.5(ATP1A3):c.994-1G>A SNV
Germline
Chr19:41982107 Likely pathogenic Dystonia 12 Criteria Provided
Single Submitter
CA406051795 rs_2514066934

1 SubmittersRCV003516089

NM_152296.5(ATP1A3):c.977T>C (p.Leu326Pro) SNV
Germline
Chr19:41984934 Likely pathogenic Dystonia 12 Criteria Provided
Single Submitter
CA406052131 rs_1131691307

1 SubmittersRCV003627878

NM_152296.5(ATP1A3):c.2167G>C (p.Ala723Pro) SNV
Germline
Chr19:41975725 Pathogenic Dystonia 12 Criteria Provided
Single Submitter
CA406042002 rs_2075158686

1 SubmittersRCV003628175

NM_152296.5(ATP1A3):c.1807-2A>G SNV
Germline
Chr19:41978074 Likely pathogenic Dystonia 12 Criteria Provided
Single Submitter
CA406045338 rs_2514054212

1 SubmittersRCV003626139

NM_152296.5(ATP1A3):c.1630+17C>T SNV
Germline
Chr19:41978589 Conflicting classifications of pathogenicity Dystonia 12
Condition: not provided
Criteria Provided
Conflicting Classifications
CA9467601 rs_782259548

2 SubmittersRCV003626593RCV005643508

NM_152296.5(ATP1A3):c.2611G>A (p.Gly871Ser) SNV
Germline
Chr19:41969512 Conflicting classifications of pathogenicity Dystonia 12
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA9467337 rs_554237072

2 SubmittersRCV003627313RCV005744730

NM_152296.5(ATP1A3):c.1475G>A (p.Arg492Gln) SNV
Germline
Chr19:41978761 Conflicting classifications of pathogenicity Alternating hemiplegia of childhood 2
Condition: not provided
Dystonia 12
Criteria Provided
Conflicting Classifications

4 SubmittersRCV004698731RCV004759439RCV005103546

NM_152296.5(ATP1A3):c.2303A>C (p.Tyr768Ser) SNV
Germline
Chr19:41970503 Likely pathogenic Dystonia 12 Criteria Provided
Single Submitter

1 SubmittersRCV005107178

NM_152296.5(ATP1A3):c.1573A>T (p.Lys525Ter) SNV
Germline
Chr19:41978663 Pathogenic Dystonia 12 Criteria Provided
Single Submitter

1 SubmittersRCV005203360

NM_152296.5(ATP1A3):c.2501T>C (p.Leu834Ser) SNV
Germline
Chr19:41970226 Likely pathogenic Dystonia 12 Criteria Provided
Single Submitter

1 SubmittersRCV005195937

NM_152296.5(ATP1A3):c.2423C>T (p.Pro808Leu) SNV
Germline
Chr19:41970304 Pathogenic/Likely pathogenic Dystonia 12
Alternating hemiplegia of childhood 2
Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005195938RCV005255004

NM_152296.5(ATP1A3):c.2887G>C (p.Gly963Arg) SNV
Unknown
Chr19:41967696 Likely pathogenic Dystonia 12 Criteria Provided
Single Submitter

1 SubmittersRCV005257961

NM_152296.5(ATP1A3):c.6+1G>A SNV
Germline
Chr19:41994070 Likely pathogenic Dystonia 12 Criteria Provided
Single Submitter

1 SubmittersRCV006497043

NM_152296.5(ATP1A3):c.974G>T (p.Gly325Val) SNV
Germline
Chr19:41984937 Likely pathogenic Dystonia 12 Criteria Provided
Single Submitter

1 SubmittersRCV006626428