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	Criteria Provided Multiple Submitters No Conflicts	CA341233		11 SubmittersRCV000013772 RCV000726724 RCV001004717
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	Dystonia 12 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA341235	rs_80356533	6 SubmittersRCV000013774 RCV004719645
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 SubmittersRCV000013775 RCV001781260
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 Dystonia 12 Alternating hemiplegia of childhood 2 Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome Condition: not provided Seizure ATP1A3-associated neurological disorder	Criteria Provided Multiple Submitters No Conflicts	CA163277	rs_267606670	12 SubmittersRCV000013778 RCV000128465 RCV000763432 RCV003233069 RCV004577942 RCV003389231
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 Dystonia 12 Alternating hemiplegia of childhood 2 Inborn genetic diseases Dystonia 12 Dystonic disorder Oculogyric crisis Tetraparesis ATP1A3-related disorder Developmental and epileptic encephalopathy 99	Criteria Provided Multiple Submitters No Conflicts	CA342902		29 SubmittersRCV000030749 RCV000413511 RCV000515424 RCV000624579 RCV000644928 RCV001004008 RCV001265551 RCV002281545
NM_152296.5(ATP1A3):c.2443G>A (p.Glu815Lys)	SNV Germline	Chr19:41970284	Pathogenic	Alternating hemiplegia of childhood 2 Dystonia 12 Condition: not provided Global developmental delay Oculogyric crisis Hemiplegia Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome Dystonia 12 Alternating hemiplegia of childhood 2 not specified Inborn genetic diseases Developmental and epileptic encephalopathy 99 Dystonic disorder Seizure Neurodevelopmental delay Dyskinesia Seizure	Criteria Provided Multiple Submitters No Conflicts	CA342903	rs_387907281	21 SubmittersRCV000030750 RCV000469482 RCV000432504 RCV000626997 RCV000763433 RCV001192636 RCV001267254 RCV001807744 RCV002243675 RCV004546416
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 SubmittersRCV000030751 RCV000541711
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 Dystonia 12 Alternating hemiplegia of childhood 2 ATP1A3-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA342905	rs_398122887	11 SubmittersRCV000030752 RCV000415180 RCV000418823 RCV000476589 RCV000763431 RCV004549395
NM_152296.5(ATP1A3):c.2051C>T (p.Ser684Phe)	SNV Germline	Chr19:41976459	Likely pathogenic	Dystonia 12	Criteria Provided Single Submitter	CA345082	rs_397515577	1 SubmittersRCV000055992
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 SubmittersRCV000128466 RCV001849915
NM_152296.5(ATP1A3):c.2452G>A (p.Glu818Lys)	SNV Germline	Chr19:41970275	Pathogenic	Inborn genetic diseases Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome Alternating hemiplegia of childhood 2 Dystonia 12 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA204733	rs_587777771	15 SubmittersRCV000190725 RCV000144250 RCV000195001 RCV000234480 RCV000314245
NM_152296.5(ATP1A3):c.1323G>A (p.Ala441=)	SNV Germline	Chr19:41981616	Conflicting classifications of pathogenicity	Condition: not provided Alternating hemiplegia of childhood 2 Dystonia 12 not specified	Criteria Provided Conflicting Classifications	CA171283	rs_34578730	12 SubmittersRCV000857914 RCV000145247 RCV000283640 RCV000406176
NM_152296.5(ATP1A3):c.2780G>A (p.Cys927Tyr)	SNV Germline	Chr19:41968824	Likely pathogenic	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 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 Dystonia 12 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA346037	rs_267606670	3 SubmittersRCV000148329 RCV000689821 RCV000489720
NM_152296.5(ATP1A3):c.2600G>A (p.Gly867Asp)	SNV Germline	Chr19:41969523	Pathogenic	Condition: not provided Dystonia 12	Criteria Provided Single Submitter	CA346032	rs_606231442	2 SubmittersRCV002051815 RCV002273963
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 SubmittersRCV000148326 RCV001850014
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 SubmittersRCV000148319 RCV002510791 RCV002514853
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 ATP1A3-associated neurological disorder Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome	Criteria Provided Multiple Submitters No Conflicts	CA346014	rs_606231435	18 SubmittersRCV000148315 RCV000489717 RCV000578251 RCV000624894 RCV002272140 RCV000791274
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	2 SubmittersRCV000816262 RCV001091181
NM_152296.5(ATP1A3):c.2263G>A (p.Gly755Ser)	SNV Germline	Chr19:41975629	Pathogenic	Dystonia 12	Criteria Provided Single Submitter		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.410C>T (p.Ser137Phe)	SNV Germline	Chr19:41986177	Pathogenic	Alternating hemiplegia of childhood 2 Epicanthus Ventriculomegaly Abnormal earlobe morphology Depressed nasal bridge Seizure Condition: not provided Dystonia 12	Criteria Provided Multiple Submitters No Conflicts	CA345998	rs_542652468	4 SubmittersRCV000148303 RCV000414799 RCV001551275 RCV001234241
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 SubmittersRCV000190721 RCV003327378 RCV004796087
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 SubmittersRCV000203207 RCV001808560 RCV003765310
NM_152296.5(ATP1A3):c.946G>A (p.Gly316Ser)	SNV Germline	Chr19:41984965	Pathogenic	Dystonia 12 ATP1A3-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA358802	rs_869320661	4 SubmittersRCV000210848 RCV003335231
NM_152296.5(ATP1A3):c.385G>A (p.Val129Met)	SNV Germline	Chr19:41986202	Pathogenic/Likely pathogenic	Juvenile onset psychosis Condition: not provided Alternating hemiplegia of childhood 2 ATP1A3-related disorder Dystonia 12	Criteria Provided Multiple Submitters No Conflicts	CA10602480	rs_1555865401	5 SubmittersRCV000225081 RCV002282097 RCV003114440 RCV004725134 RCV002274003
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	Criteria Provided Multiple Submitters No Conflicts	CA10603656	rs_886041396	9 SubmittersRCV000272828 RCV001266079 RCV001197881 RCV003236579
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 SubmittersRCV000415740 RCV001487003
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 SubmittersRCV000273518 RCV000328686
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 SubmittersRCV000337219 RCV000371931
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 SubmittersRCV000307876 RCV000362253
NM_152296.5(ATP1A3):c.153+7C>T	SNV Germline	Chr19:41988311	Conflicting classifications of pathogenicity	Dystonia 12 Alternating hemiplegia of childhood 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA9467945	rs_782082118	3 SubmittersRCV000373996 RCV000319208 RCV000585257
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 SubmittersRCV000347472 RCV000402794
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 SubmittersRCV000358956 RCV000395872 RCV004549738
NM_152296.5(ATP1A3):c.994-3C>G	SNV Germline	Chr19:41982109	Conflicting classifications of pathogenicity	Dystonia 12 Alternating hemiplegia of childhood 2 Condition: not provided Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome Developmental and epileptic encephalopathy 99 ATP1A3-related disorder	Criteria Provided Conflicting Classifications	CA9467730	rs_377256877	7 SubmittersRCV000270151 RCV000364631 RCV001706532 RCV002259880 RCV002259881 RCV004549739
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 SubmittersRCV000288675 RCV000343601
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 SubmittersRCV000298126 RCV000405974
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 SubmittersRCV000295277 RCV000389712
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 SubmittersRCV000413810 RCV001838624
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 Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome Developmental and epileptic encephalopathy 99	Criteria Provided Multiple Submitters No Conflicts	CA9467460	rs_782175860	7 SubmittersRCV000413243 RCV000853257 RCV001387923 RCV002510573 RCV004017606
NM_152296.5(ATP1A3):c.1387C>T (p.Arg463Cys)	SNV Germline	Chr19:41981552	Conflicting classifications of pathogenicity	Dystonia 12 not specified Alternating hemiplegia of childhood 2 Condition: not provided Inborn genetic diseases ATP1A3-related disorder	Criteria Provided Conflicting Classifications	CA9467655	rs_150785666	8 SubmittersRCV000547051 RCV000441666 RCV001131091 RCV001777161 RCV002524753 RCV004551422
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 SubmittersRCV000482035 RCV001210745
NM_152296.5(ATP1A3):c.2266C>T (p.Arg756Cys)	SNV Germline	Chr19:41970540	Pathogenic/Likely pathogenic	Alternating hemiplegia of childhood 2 Condition: not provided Inborn genetic diseases Seizure Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome ATP1A3-related disorder Dystonia 12 Dystonia 12 Alternating hemiplegia of childhood 2 Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome ATP1A3-associated neurological disorder	Criteria Provided Multiple Submitters No Conflicts	CA16621741	rs_1064797245	16 SubmittersRCV000501825 RCV000488196 RCV000624914 RCV004586737 RCV003335375 RCV004737556 RCV000692668 RCV000850500 RCV004787793
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	3 SubmittersRCV000488938 RCV000693938 RCV003387856
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 SubmittersRCV000489150 RCV000703309
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 SubmittersRCV000493277 RCV001234039
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 SubmittersRCV000493714 RCV001060259
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 SubmittersRCV000500150 RCV000697449 RCV003326445
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	Criteria Provided Conflicting Classifications	CA9467329	rs_149600313	6 SubmittersRCV000538377 RCV001086631 RCV002260003 RCV002260004 RCV002260002 RCV004553233
NM_152296.5(ATP1A3):c.2408G>A (p.Gly803Asp)	SNV Germline	Chr19:41970398	Pathogenic	Dystonia 12	Criteria Provided Single Submitter	CA406039252	rs_1555859571	1 SubmittersRCV000525007
NM_152296.5(ATP1A3):c.191G>A (p.Arg64Gln)	SNV Germline	Chr19:41988102	Conflicting classifications of pathogenicity	Dystonia 12 Condition: not provided Developmental and epileptic encephalopathy 99 Inborn genetic diseases not specified ATP1A3-related disorder	Criteria Provided Conflicting Classifications	CA9467926	rs_201573515	6 SubmittersRCV000560382 RCV001662571 RCV003156051 RCV003302853 RCV003317269 RCV004553231
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 SubmittersRCV000559746 RCV004791554
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 SubmittersRCV000585512 RCV003129931
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 SubmittersRCV000622298 RCV001047167
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 SubmittersRCV000623342 RCV001855295 RCV004777770
NM_152296.5(ATP1A3):c.958G>C (p.Ala320Pro)	SNV Germline	Chr19:41984953	Pathogenic/Likely pathogenic	Hemiplegia Oculogyric crisis Delayed speech and language development Apnea Seizure Dystonia 12	Criteria Provided Multiple Submitters No Conflicts	CA406052217	rs_879255368	2 SubmittersRCV000626998 RCV002529802
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		rs_606231447	2 SubmittersRCV000696859 RCV004817937
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		rs_782123500	2 SubmittersRCV000699183 RCV000762025
NM_152296.5(ATP1A3):c.2677G>C (p.Gly893Arg)	SNV Germline	Chr19:41969446	Likely pathogenic	Dystonia 12	Criteria Provided Single Submitter		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		rs_1555866356	2 SubmittersRCV000762026 RCV003514409
NM_152296.5(ATP1A3):c.1192+7G>A	SNV Germline	Chr19:41981901	Conflicting classifications of pathogenicity	Dystonia 12 Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome Alternating hemiplegia of childhood 2 Dystonia 12 ATP1A3-related disorder Dystonia 12 Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome Alternating hemiplegia of childhood 2 Developmental and epileptic encephalopathy 99	Criteria Provided Conflicting Classifications		rs_374826826	3 SubmittersRCV000767899 RCV001439895 RCV004547960 RCV003224388
NM_152296.5(ATP1A3):c.1176C>T (p.Thr392=)	SNV Germline	Chr19:41981924	Conflicting classifications of pathogenicity	Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome Alternating hemiplegia of childhood 2 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 Dystonia 12	Criteria Provided Conflicting Classifications		rs_1353417724	2 SubmittersRCV000767900 RCV003224389 RCV003514410
NM_152296.5(ATP1A3):c.2303A>G (p.Tyr768Cys)	SNV Germline	Chr19:41970503	Likely pathogenic	Dystonia 12	Criteria Provided Single Submitter		rs_1599706613	1 SubmittersRCV000797584
NM_152296.5(ATP1A3):c.1790G>A (p.Arg597His)	SNV Germline	Chr19:41978167	Likely pathogenic	Dystonia 12	Criteria Provided Single Submitter		rs_1599715341	1 SubmittersRCV000813878
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	Criteria Provided Conflicting Classifications		rs_782229302	3 SubmittersRCV000803350 RCV001128681 RCV001777177
NM_152296.5(ATP1A3):c.1302+1G>A	SNV Germline	Chr19:41981721	Likely pathogenic	Dystonia 12	Criteria Provided Single Submitter		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		rs_1599705282	3 SubmittersRCV000842263 RCV001858439
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 Dystonia 12 Alternating hemiplegia of childhood 2 Dystonia 12	Criteria Provided Multiple Submitters No Conflicts		rs_398122887	2 SubmittersRCV000850517 RCV001039394
NM_152296.5(ATP1A3):c.724+8G>A	SNV Germline	Chr19:41985298	Conflicting classifications of pathogenicity	Dystonia 12 not specified	Criteria Provided Conflicting Classifications		rs_781886157	2 SubmittersRCV001416947 RCV004782578
NM_152296.5(ATP1A3):c.94-5C>T	SNV Germline	Chr19:41988382	Conflicting classifications of pathogenicity	Dystonia 12 not specified	Criteria Provided Conflicting Classifications		rs_1599726017	2 SubmittersRCV001489765 RCV004768746
NM_152296.5(ATP1A3):c.2252G>A (p.Gly751Glu)	SNV Unknown	Chr19:41975640	Likely pathogenic	Dystonia 12	Criteria Provided Single Submitter		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		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		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		rs_1599715062	2 SubmittersRCV000996933 RCV003626654
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		rs_1599723609	3 SubmittersRCV000996936 RCV002550704
NM_152296.5(ATP1A3):c.2332A>C (p.Thr778Pro)	SNV Germline	Chr19:41970474	Likely pathogenic	Dystonia 12	Criteria Provided Single Submitter		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	Criteria Provided Multiple Submitters No Conflicts		rs_1599725621	3 SubmittersRCV000995500 RCV003442137
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 Dystonia 12 Neurodevelopmental delay	Criteria Provided Conflicting Classifications			4 SubmittersRCV001004671 RCV001585916 RCV003626655 RCV002274115
NM_152296.5(ATP1A3):c.2616C>A (p.Asn872Lys)	SNV Germline	Chr19:41969507	Conflicting classifications of pathogenicity	Dystonia 12 Condition: not provided	Criteria Provided Conflicting Classifications		rs_782057287	2 SubmittersRCV001066027 RCV001797153
NM_152296.5(ATP1A3):c.2407G>C (p.Gly803Arg)	SNV Germline	Chr19:41970399	Likely pathogenic	Dystonia 12	Criteria Provided Single Submitter		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		rs_782453913	3 SubmittersRCV001048072 RCV003425895 RCV004031492
NM_152296.5(ATP1A3):c.2542+1G>C	SNV Germline	Chr19:41970184	Pathogenic	Dystonia 12	Criteria Provided Single Submitter		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		rs_782140994	2 SubmittersRCV001130473 RCV001130474
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		rs_782424595	2 SubmittersRCV001133794 RCV001133795
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		rs_950336124	2 SubmittersRCV001130252 RCV001130251
NM_152296.5(ATP1A3):c.954C>G (p.Ile318Met)	SNV Germline	Chr19:41984957	Pathogenic	Alternating hemiplegia of childhood 2 Dystonia 12 Dystonia 12	Criteria Provided Multiple Submitters No Conflicts		rs_529241207	2 SubmittersRCV001257081 RCV002560179
NM_152296.5(ATP1A3):c.1930C>T (p.Gln644Ter)	SNV Germline	Chr19:41977949	Conflicting classifications of pathogenicity	Dystonia 12 Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_1555861946	2 SubmittersRCV001214555 RCV004963216
NM_152296.5(ATP1A3):c.2768A>C (p.Asp923Ala)	SNV Germline	Chr19:41968836	Pathogenic	Dystonia 12	Criteria Provided Single Submitter		rs_2075071528	1 SubmittersRCV001235897
NM_152296.5(ATP1A3):c.2921+1G>C	SNV Germline	Chr19:41967661	Likely pathogenic	Dystonia 12	Criteria Provided Single Submitter		rs_2075058462	1 SubmittersRCV001300685
NM_152296.5(ATP1A3):c.2153C>A (p.Ala718Asp)	SNV Germline	Chr19:41975739	Pathogenic	Dystonia 12	Criteria Provided Single Submitter		rs_2075158829	1 SubmittersRCV001294683
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		rs_2075282510	2 SubmittersRCV001297560 RCV004967967
NM_152296.5(ATP1A3):c.1839G>A (p.Thr613=)	SNV Germline	Chr19:41978040	Conflicting classifications of pathogenicity	Dystonia 12 Condition: not provided	Criteria Provided Conflicting Classifications		rs_376852509	2 SubmittersRCV001314685 RCV003222303
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		rs_2075159021	3 SubmittersRCV001342673 RCV002510592 RCV004697115
NM_152296.5(ATP1A3):c.1438-2A>G	SNV Germline	Chr19:41978800	Conflicting classifications of pathogenicity	Dystonia 12 Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_2075199553	2 SubmittersRCV001342144 RCV004968075
NM_152296.5(ATP1A3):c.724+1G>T	SNV Germline	Chr19:41985305	Likely pathogenic	Dystonia 12	Criteria Provided Single Submitter		rs_2075276177	1 SubmittersRCV001352343
NM_152296.5(ATP1A3):c.3013+1G>A	SNV Germline	Chr19:41967248	Pathogenic	Dystonia 12	Criteria Provided Single Submitter		rs_2145941195	1 SubmittersRCV001369157
NM_152296.5(ATP1A3):c.2689-1G>T	SNV Unknown	Chr19:41968916	Likely pathogenic	Dystonia 12	Criteria Provided Single Submitter		rs_2145944794	1 SubmittersRCV001726499
NM_152296.5(ATP1A3):c.1073G>A (p.Gly358Asp)	SNV Germline	Chr19:41982027	Pathogenic	Dystonia 12 Dystonia 12 Alternating hemiplegia of childhood 2 Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome Developmental and epileptic encephalopathy 99	Criteria Provided Multiple Submitters No Conflicts		rs_1555863693	3 SubmittersRCV001389186 RCV004796628
NM_152296.5(ATP1A3):c.1072G>A (p.Gly358Ser)	SNV Germline	Chr19:41982028	Pathogenic	Dystonia 12	Criteria Provided Single Submitter		rs_606231432	1 SubmittersRCV001381008
NM_152296.5(ATP1A3):c.2677G>A (p.Gly893Arg)	SNV Germline	Chr19:41969446	Pathogenic	Condition: not provided Dystonia 12	Criteria Provided Multiple Submitters No Conflicts		rs_1568853466	2 SubmittersRCV001546327 RCV002568966
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		rs_2145972483	2 SubmittersRCV001667867 RCV001882766
NM_152296.5(ATP1A3):c.1429A>T (p.Lys477Ter)	SNV Germline	Chr19:41981510	Pathogenic	Dystonia 12	Criteria Provided Single Submitter		rs_2145971509	1 SubmittersRCV001863934
NM_152296.5(ATP1A3):c.1906G>A (p.Ala636Thr)	SNV Germline	Chr19:41977973	Conflicting classifications of pathogenicity	Dystonia 12 Alternating hemiplegia of childhood 2 Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome Dystonia 12 Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_782744167	3 SubmittersRCV001972146 RCV002266066 RCV002561520
NM_152296.5(ATP1A3):c.1108A>G (p.Thr370Ala)	SNV Germline	Chr19:41981992	Likely pathogenic	Dystonia 12	Criteria Provided Single Submitter		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		rs_2145977694	3 SubmittersRCV002017694
NM_152296.5(ATP1A3):c.2095-1G>A	SNV Germline	Chr19:41975798	Likely pathogenic	Dystonia 12	Criteria Provided Single Submitter		rs_2145959709	1 SubmittersRCV002044429
NM_152296.5(ATP1A3):c.1630+2T>C	SNV Germline	Chr19:41978604	Likely pathogenic	Dystonia 12	Criteria Provided Single Submitter		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		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		rs_782105093	2 SubmittersRCV001984662 RCV004770293
NM_152296.5(ATP1A3):c.2767G>C (p.Asp923His)	SNV Germline	Chr19:41968837	Pathogenic	Dystonia 12	Criteria Provided Single Submitter		rs_267606670	1 SubmittersRCV002249284
NM_152296.5(ATP1A3):c.2225A>T (p.Asp742Val)	SNV Germline	Chr19:41975667	Pathogenic	Dystonia 12	Criteria Provided Single Submitter		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	Criteria Provided Conflicting Classifications		rs_782583311	3 SubmittersRCV002247057 RCV003138125 RCV003626696
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			2 SubmittersRCV002511224 RCV003514594
NM_152296.5(ATP1A3):c.2116G>C (p.Gly706Arg)	SNV Germline	Chr19:41975776	Pathogenic	Dystonia 12	Criteria Provided Single Submitter			1 SubmittersRCV002601844
NM_152296.5(ATP1A3):c.281T>C (p.Leu94Pro)	SNV Germline	Chr19:41988012	Pathogenic	Dystonia 12	Criteria Provided Single Submitter			1 SubmittersRCV002795956
NM_152296.5(ATP1A3):c.2759A>C (p.Gln920Pro)	SNV Germline	Chr19:41968845	Pathogenic	Dystonia 12	Criteria Provided Single Submitter			1 SubmittersRCV002909619
NM_152296.5(ATP1A3):c.1109C>T (p.Thr370Ile)	SNV Germline	Chr19:41981991	Likely pathogenic	Dystonia 12	Criteria Provided Single Submitter			1 SubmittersRCV003019546
NM_152296.5(ATP1A3):c.2051C>A (p.Ser684Tyr)	SNV Germline	Chr19:41976459	Likely pathogenic	Dystonia 12	Criteria Provided Single Submitter			1 SubmittersRCV003039836
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			2 SubmittersRCV003143612 RCV003778826
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			2 SubmittersRCV003223518 RCV003333250
NM_152296.5(ATP1A3):c.994-1G>A	SNV Germline	Chr19:41982107	Likely pathogenic	Dystonia 12	Criteria Provided Single Submitter			1 SubmittersRCV003516089
NM_152296.5(ATP1A3):c.977T>C (p.Leu326Pro)	SNV Germline	Chr19:41984934	Likely pathogenic	Dystonia 12	Criteria Provided Single Submitter			1 SubmittersRCV003627878
NM_152296.5(ATP1A3):c.2167G>C (p.Ala723Pro)	SNV Germline	Chr19:41975725	Pathogenic	Dystonia 12	Criteria Provided Single Submitter			1 SubmittersRCV003628175
NM_152296.5(ATP1A3):c.1807-2A>G	SNV Germline	Chr19:41978074	Likely pathogenic	Dystonia 12	Criteria Provided Single Submitter			1 SubmittersRCV003626139

NM_152296.5(ATP1A3):c.1838C>T (p.Thr613Met)

SNV
Germline

Chr19:41978041

Pathogenic

Dystonia 12
Condition: not provided
Alternating hemiplegia of childhood 2

Criteria Provided
Multiple Submitters
No Conflicts

CA341233

11 SubmittersRCV000013772 RCV000726724 RCV001004717

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

Dystonia 12
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA341235

rs_80356533

6 SubmittersRCV000013774 RCV004719645

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 SubmittersRCV000013775 RCV001781260

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
Dystonia 12
Alternating hemiplegia of childhood 2
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
Condition: not provided
Seizure
ATP1A3-associated neurological disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA163277

rs_267606670

12 SubmittersRCV000013778 RCV000128465 RCV000763432 RCV003233069 RCV004577942 RCV003389231

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
Dystonia 12
Alternating hemiplegia of childhood 2
Inborn genetic diseases
Dystonia 12
Dystonic disorder
Oculogyric crisis
Tetraparesis
ATP1A3-related disorder
Developmental and epileptic encephalopathy 99

Criteria Provided
Multiple Submitters
No Conflicts

CA342902

29 SubmittersRCV000030749 RCV000413511 RCV000515424 RCV000624579 RCV000644928 RCV001004008 RCV001265551 RCV002281545

NM_152296.5(ATP1A3):c.2443G>A (p.Glu815Lys)

SNV
Germline

Chr19:41970284

Pathogenic

Alternating hemiplegia of childhood 2
Dystonia 12
Condition: not provided
Global developmental delay
Oculogyric crisis
Hemiplegia
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
Dystonia 12
Alternating hemiplegia of childhood 2
not specified
Inborn genetic diseases
Developmental and epileptic encephalopathy 99
Dystonic disorder
Seizure
Neurodevelopmental delay
Dyskinesia
Seizure

Criteria Provided
Multiple Submitters
No Conflicts

CA342903

rs_387907281

21 SubmittersRCV000030750 RCV000469482 RCV000432504 RCV000626997 RCV000763433 RCV001192636 RCV001267254 RCV001807744 RCV002243675 RCV004546416

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 SubmittersRCV000030751 RCV000541711

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
Dystonia 12
Alternating hemiplegia of childhood 2
ATP1A3-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA342905

rs_398122887

11 SubmittersRCV000030752 RCV000415180 RCV000418823 RCV000476589 RCV000763431 RCV004549395

NM_152296.5(ATP1A3):c.2051C>T (p.Ser684Phe)

SNV
Germline

Chr19:41976459

Likely pathogenic

Dystonia 12

Criteria Provided
Single Submitter

CA345082

rs_397515577

1 SubmittersRCV000055992

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 SubmittersRCV000128466 RCV001849915

NM_152296.5(ATP1A3):c.2452G>A (p.Glu818Lys)

SNV
Germline

Chr19:41970275

Pathogenic

Inborn genetic diseases
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
Alternating hemiplegia of childhood 2
Dystonia 12
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA204733

rs_587777771

15 SubmittersRCV000190725 RCV000144250 RCV000195001 RCV000234480 RCV000314245

NM_152296.5(ATP1A3):c.1323G>A (p.Ala441=)

SNV
Germline

Chr19:41981616

Conflicting classifications of pathogenicity

Condition: not provided
Alternating hemiplegia of childhood 2
Dystonia 12
not specified

Criteria Provided
Conflicting Classifications

CA171283

rs_34578730

12 SubmittersRCV000857914 RCV000145247 RCV000283640 RCV000406176

NM_152296.5(ATP1A3):c.2780G>A (p.Cys927Tyr)

SNV
Germline

Chr19:41968824

Likely pathogenic

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
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
Dystonia 12
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA346037

rs_267606670

3 SubmittersRCV000148329 RCV000689821 RCV000489720

NM_152296.5(ATP1A3):c.2600G>A (p.Gly867Asp)

SNV
Germline

Chr19:41969523

Pathogenic

Condition: not provided
Dystonia 12

Criteria Provided
Single Submitter

CA346032

rs_606231442

2 SubmittersRCV002051815 RCV002273963

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 SubmittersRCV000148326 RCV001850014

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 SubmittersRCV000148319 RCV002510791 RCV002514853

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
ATP1A3-associated neurological disorder
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA346014

rs_606231435

18 SubmittersRCV000148315 RCV000489717 RCV000578251 RCV000624894 RCV002272140 RCV000791274

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

2 SubmittersRCV000816262 RCV001091181

NM_152296.5(ATP1A3):c.2263G>A (p.Gly755Ser)

SNV
Germline

Chr19:41975629

Pathogenic

Dystonia 12

Criteria Provided
Single Submitter

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.410C>T (p.Ser137Phe)

SNV
Germline

Chr19:41986177

Pathogenic

Alternating hemiplegia of childhood 2
Epicanthus
Ventriculomegaly
Abnormal earlobe morphology
Depressed nasal bridge
Seizure
Condition: not provided
Dystonia 12

Criteria Provided
Multiple Submitters
No Conflicts

CA345998

rs_542652468

4 SubmittersRCV000148303 RCV000414799 RCV001551275 RCV001234241

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 SubmittersRCV000190721 RCV003327378 RCV004796087

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 SubmittersRCV000203207 RCV001808560 RCV003765310

NM_152296.5(ATP1A3):c.946G>A (p.Gly316Ser)

SNV
Germline

Chr19:41984965

Pathogenic

Dystonia 12
ATP1A3-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA358802

rs_869320661

4 SubmittersRCV000210848 RCV003335231

NM_152296.5(ATP1A3):c.385G>A (p.Val129Met)

SNV
Germline

Chr19:41986202

Pathogenic/Likely pathogenic

Juvenile onset psychosis
Condition: not provided
Alternating hemiplegia of childhood 2
ATP1A3-related disorder
Dystonia 12

Criteria Provided
Multiple Submitters
No Conflicts

CA10602480

rs_1555865401

5 SubmittersRCV000225081 RCV002282097 RCV003114440 RCV004725134 RCV002274003

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10603656

rs_886041396

9 SubmittersRCV000272828 RCV001266079 RCV001197881 RCV003236579

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 SubmittersRCV000415740 RCV001487003

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 SubmittersRCV000273518 RCV000328686

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 SubmittersRCV000337219 RCV000371931

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 SubmittersRCV000307876 RCV000362253

NM_152296.5(ATP1A3):c.153+7C>T

SNV
Germline

Chr19:41988311

Conflicting classifications of pathogenicity

Dystonia 12
Alternating hemiplegia of childhood 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9467945

rs_782082118

3 SubmittersRCV000373996 RCV000319208 RCV000585257

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 SubmittersRCV000347472 RCV000402794

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 SubmittersRCV000358956 RCV000395872 RCV004549738

NM_152296.5(ATP1A3):c.994-3C>G

SNV
Germline

Chr19:41982109

Conflicting classifications of pathogenicity

Dystonia 12
Alternating hemiplegia of childhood 2
Condition: not provided
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
Developmental and epileptic encephalopathy 99
ATP1A3-related disorder

Criteria Provided
Conflicting Classifications

CA9467730

rs_377256877

7 SubmittersRCV000270151 RCV000364631 RCV001706532 RCV002259880 RCV002259881 RCV004549739

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 SubmittersRCV000288675 RCV000343601

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 SubmittersRCV000298126 RCV000405974

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 SubmittersRCV000295277 RCV000389712

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 SubmittersRCV000413810 RCV001838624

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
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
Developmental and epileptic encephalopathy 99

Criteria Provided
Multiple Submitters
No Conflicts

CA9467460

rs_782175860

7 SubmittersRCV000413243 RCV000853257 RCV001387923 RCV002510573 RCV004017606

NM_152296.5(ATP1A3):c.1387C>T (p.Arg463Cys)

SNV
Germline

Chr19:41981552

Conflicting classifications of pathogenicity

Dystonia 12
not specified
Alternating hemiplegia of childhood 2
Condition: not provided
Inborn genetic diseases
ATP1A3-related disorder

Criteria Provided
Conflicting Classifications

CA9467655

rs_150785666

8 SubmittersRCV000547051 RCV000441666 RCV001131091 RCV001777161 RCV002524753 RCV004551422

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 SubmittersRCV000482035 RCV001210745

NM_152296.5(ATP1A3):c.2266C>T (p.Arg756Cys)

SNV
Germline

Chr19:41970540

Pathogenic/Likely pathogenic

Alternating hemiplegia of childhood 2
Condition: not provided
Inborn genetic diseases
Seizure
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
ATP1A3-related disorder
Dystonia 12
Dystonia 12
Alternating hemiplegia of childhood 2
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
ATP1A3-associated neurological disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA16621741

rs_1064797245

16 SubmittersRCV000501825 RCV000488196 RCV000624914 RCV004586737 RCV003335375 RCV004737556 RCV000692668 RCV000850500 RCV004787793

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

3 SubmittersRCV000488938 RCV000693938 RCV003387856

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 SubmittersRCV000489150 RCV000703309

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 SubmittersRCV000493277 RCV001234039

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 SubmittersRCV000493714 RCV001060259

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 SubmittersRCV000500150 RCV000697449 RCV003326445

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

Criteria Provided
Conflicting Classifications

CA9467329

rs_149600313

6 SubmittersRCV000538377 RCV001086631 RCV002260003 RCV002260004 RCV002260002 RCV004553233

NM_152296.5(ATP1A3):c.2408G>A (p.Gly803Asp)

SNV
Germline

Chr19:41970398

Pathogenic

Dystonia 12

Criteria Provided
Single Submitter

CA406039252

rs_1555859571

1 SubmittersRCV000525007

NM_152296.5(ATP1A3):c.191G>A (p.Arg64Gln)

SNV
Germline

Chr19:41988102

Conflicting classifications of pathogenicity

Dystonia 12
Condition: not provided
Developmental and epileptic encephalopathy 99
Inborn genetic diseases
not specified
ATP1A3-related disorder

Criteria Provided
Conflicting Classifications

CA9467926

rs_201573515

6 SubmittersRCV000560382 RCV001662571 RCV003156051 RCV003302853 RCV003317269 RCV004553231

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 SubmittersRCV000559746 RCV004791554

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 SubmittersRCV000585512 RCV003129931

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 SubmittersRCV000622298 RCV001047167

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 SubmittersRCV000623342 RCV001855295 RCV004777770

NM_152296.5(ATP1A3):c.958G>C (p.Ala320Pro)

SNV
Germline

Chr19:41984953

Pathogenic/Likely pathogenic

Hemiplegia
Oculogyric crisis
Delayed speech and language development
Apnea
Seizure
Dystonia 12

Criteria Provided
Multiple Submitters
No Conflicts

CA406052217

rs_879255368

2 SubmittersRCV000626998 RCV002529802

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

rs_606231447

2 SubmittersRCV000696859 RCV004817937

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

rs_782123500

2 SubmittersRCV000699183 RCV000762025

NM_152296.5(ATP1A3):c.2677G>C (p.Gly893Arg)

SNV
Germline

Chr19:41969446

Likely pathogenic

Dystonia 12

Criteria Provided
Single Submitter

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

rs_1555866356

2 SubmittersRCV000762026 RCV003514409

NM_152296.5(ATP1A3):c.1192+7G>A

SNV
Germline

Chr19:41981901

Conflicting classifications of pathogenicity

Dystonia 12
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
Alternating hemiplegia of childhood 2
Dystonia 12
ATP1A3-related disorder
Dystonia 12
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
Alternating hemiplegia of childhood 2
Developmental and epileptic encephalopathy 99

Criteria Provided
Conflicting Classifications

rs_374826826

3 SubmittersRCV000767899 RCV001439895 RCV004547960 RCV003224388

NM_152296.5(ATP1A3):c.1176C>T (p.Thr392=)

SNV
Germline

Chr19:41981924

Conflicting classifications of pathogenicity

Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
Alternating hemiplegia of childhood 2
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
Dystonia 12

Criteria Provided
Conflicting Classifications

rs_1353417724

2 SubmittersRCV000767900 RCV003224389 RCV003514410

NM_152296.5(ATP1A3):c.2303A>G (p.Tyr768Cys)

SNV
Germline

Chr19:41970503

Likely pathogenic

Dystonia 12

Criteria Provided
Single Submitter

rs_1599706613

1 SubmittersRCV000797584

NM_152296.5(ATP1A3):c.1790G>A (p.Arg597His)

SNV
Germline

Chr19:41978167

Likely pathogenic

Dystonia 12

Criteria Provided
Single Submitter

rs_1599715341

1 SubmittersRCV000813878

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

Criteria Provided
Conflicting Classifications

rs_782229302

3 SubmittersRCV000803350 RCV001128681 RCV001777177

NM_152296.5(ATP1A3):c.1302+1G>A

SNV
Germline

Chr19:41981721

Likely pathogenic

Dystonia 12

Criteria Provided
Single Submitter

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

rs_1599705282

3 SubmittersRCV000842263 RCV001858439

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
Dystonia 12
Alternating hemiplegia of childhood 2
Dystonia 12

Criteria Provided
Multiple Submitters
No Conflicts

rs_398122887

2 SubmittersRCV000850517 RCV001039394

NM_152296.5(ATP1A3):c.724+8G>A

SNV
Germline

Chr19:41985298

Conflicting classifications of pathogenicity

Dystonia 12
not specified

Criteria Provided
Conflicting Classifications

rs_781886157

2 SubmittersRCV001416947 RCV004782578

NM_152296.5(ATP1A3):c.94-5C>T

SNV
Germline

Chr19:41988382

Conflicting classifications of pathogenicity

Dystonia 12
not specified

Criteria Provided
Conflicting Classifications

rs_1599726017

2 SubmittersRCV001489765 RCV004768746

NM_152296.5(ATP1A3):c.2252G>A (p.Gly751Glu)

SNV
Unknown

Chr19:41975640

Likely pathogenic

Dystonia 12

Criteria Provided
Single Submitter

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

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

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

rs_1599715062

2 SubmittersRCV000996933 RCV003626654

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

rs_1599723609

3 SubmittersRCV000996936 RCV002550704

NM_152296.5(ATP1A3):c.2332A>C (p.Thr778Pro)

SNV
Germline

Chr19:41970474

Likely pathogenic

Dystonia 12

Criteria Provided
Single Submitter

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1599725621

3 SubmittersRCV000995500 RCV003442137

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
Dystonia 12
Neurodevelopmental delay

Criteria Provided
Conflicting Classifications

4 SubmittersRCV001004671 RCV001585916 RCV003626655 RCV002274115

NM_152296.5(ATP1A3):c.2616C>A (p.Asn872Lys)

SNV
Germline

Chr19:41969507

Conflicting classifications of pathogenicity

Dystonia 12
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_782057287

2 SubmittersRCV001066027 RCV001797153

NM_152296.5(ATP1A3):c.2407G>C (p.Gly803Arg)

SNV
Germline

Chr19:41970399

Likely pathogenic

Dystonia 12

Criteria Provided
Single Submitter

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

rs_782453913

3 SubmittersRCV001048072 RCV003425895 RCV004031492

NM_152296.5(ATP1A3):c.2542+1G>C

SNV
Germline

Chr19:41970184

Pathogenic

Dystonia 12

Criteria Provided
Single Submitter

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

rs_782140994

2 SubmittersRCV001130473 RCV001130474

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

rs_782424595

2 SubmittersRCV001133794 RCV001133795

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

rs_950336124

2 SubmittersRCV001130252 RCV001130251

NM_152296.5(ATP1A3):c.954C>G (p.Ile318Met)

SNV
Germline

Chr19:41984957

Pathogenic

Alternating hemiplegia of childhood 2
Dystonia 12
Dystonia 12

Criteria Provided
Multiple Submitters
No Conflicts

rs_529241207

2 SubmittersRCV001257081 RCV002560179

NM_152296.5(ATP1A3):c.1930C>T (p.Gln644Ter)

SNV
Germline

Chr19:41977949

Conflicting classifications of pathogenicity

Dystonia 12
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_1555861946

2 SubmittersRCV001214555 RCV004963216

NM_152296.5(ATP1A3):c.2768A>C (p.Asp923Ala)

SNV
Germline

Chr19:41968836

Pathogenic

Dystonia 12

Criteria Provided
Single Submitter

rs_2075071528

1 SubmittersRCV001235897

NM_152296.5(ATP1A3):c.2921+1G>C

SNV
Germline

Chr19:41967661

Likely pathogenic

Dystonia 12

Criteria Provided
Single Submitter

rs_2075058462

1 SubmittersRCV001300685

NM_152296.5(ATP1A3):c.2153C>A (p.Ala718Asp)

SNV
Germline

Chr19:41975739

Pathogenic

Dystonia 12

Criteria Provided
Single Submitter

rs_2075158829

1 SubmittersRCV001294683

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

rs_2075282510

2 SubmittersRCV001297560 RCV004967967

NM_152296.5(ATP1A3):c.1839G>A (p.Thr613=)

SNV
Germline

Chr19:41978040

Conflicting classifications of pathogenicity

Dystonia 12
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_376852509

2 SubmittersRCV001314685 RCV003222303

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

rs_2075159021

3 SubmittersRCV001342673 RCV002510592 RCV004697115

NM_152296.5(ATP1A3):c.1438-2A>G

SNV
Germline

Chr19:41978800

Conflicting classifications of pathogenicity

Dystonia 12
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_2075199553

2 SubmittersRCV001342144 RCV004968075

NM_152296.5(ATP1A3):c.724+1G>T

SNV
Germline

Chr19:41985305

Likely pathogenic

Dystonia 12

Criteria Provided
Single Submitter

rs_2075276177

1 SubmittersRCV001352343

NM_152296.5(ATP1A3):c.3013+1G>A

SNV
Germline

Chr19:41967248

Pathogenic

Dystonia 12

Criteria Provided
Single Submitter

rs_2145941195

1 SubmittersRCV001369157

NM_152296.5(ATP1A3):c.2689-1G>T

SNV
Unknown

Chr19:41968916

Likely pathogenic

Dystonia 12

Criteria Provided
Single Submitter

rs_2145944794

1 SubmittersRCV001726499

NM_152296.5(ATP1A3):c.1073G>A (p.Gly358Asp)

SNV
Germline

Chr19:41982027

Pathogenic

Dystonia 12
Dystonia 12
Alternating hemiplegia of childhood 2
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
Developmental and epileptic encephalopathy 99

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555863693

3 SubmittersRCV001389186 RCV004796628

NM_152296.5(ATP1A3):c.1072G>A (p.Gly358Ser)

SNV
Germline

Chr19:41982028

Pathogenic

Dystonia 12

Criteria Provided
Single Submitter

rs_606231432

1 SubmittersRCV001381008

NM_152296.5(ATP1A3):c.2677G>A (p.Gly893Arg)

SNV
Germline

Chr19:41969446

Pathogenic

Condition: not provided
Dystonia 12

Criteria Provided
Multiple Submitters
No Conflicts

rs_1568853466

2 SubmittersRCV001546327 RCV002568966

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

rs_2145972483

2 SubmittersRCV001667867 RCV001882766

NM_152296.5(ATP1A3):c.1429A>T (p.Lys477Ter)

SNV
Germline

Chr19:41981510

Pathogenic

Dystonia 12

Criteria Provided
Single Submitter

rs_2145971509

1 SubmittersRCV001863934

NM_152296.5(ATP1A3):c.1906G>A (p.Ala636Thr)

SNV
Germline

Chr19:41977973

Conflicting classifications of pathogenicity

Dystonia 12
Alternating hemiplegia of childhood 2
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
Dystonia 12
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_782744167

3 SubmittersRCV001972146 RCV002266066 RCV002561520

NM_152296.5(ATP1A3):c.1108A>G (p.Thr370Ala)

SNV
Germline

Chr19:41981992

Likely pathogenic

Dystonia 12

Criteria Provided
Single Submitter

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

rs_2145977694

3 SubmittersRCV002017694

NM_152296.5(ATP1A3):c.2095-1G>A

SNV
Germline

Chr19:41975798

Likely pathogenic

Dystonia 12

Criteria Provided
Single Submitter

rs_2145959709

1 SubmittersRCV002044429

NM_152296.5(ATP1A3):c.1630+2T>C

SNV
Germline

Chr19:41978604

Likely pathogenic

Dystonia 12

Criteria Provided
Single Submitter

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

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

rs_782105093

2 SubmittersRCV001984662 RCV004770293

NM_152296.5(ATP1A3):c.2767G>C (p.Asp923His)

SNV
Germline

Chr19:41968837

Pathogenic

Dystonia 12

Criteria Provided
Single Submitter

rs_267606670

1 SubmittersRCV002249284

NM_152296.5(ATP1A3):c.2225A>T (p.Asp742Val)

SNV
Germline

Chr19:41975667

Pathogenic

Dystonia 12

Criteria Provided
Single Submitter

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

Criteria Provided
Conflicting Classifications

rs_782583311

3 SubmittersRCV002247057 RCV003138125 RCV003626696

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

2 SubmittersRCV002511224 RCV003514594

NM_152296.5(ATP1A3):c.2116G>C (p.Gly706Arg)

SNV
Germline

Chr19:41975776

Pathogenic

Dystonia 12

Criteria Provided
Single Submitter

1 SubmittersRCV002601844

NM_152296.5(ATP1A3):c.281T>C (p.Leu94Pro)

SNV
Germline

Chr19:41988012

Pathogenic

Dystonia 12

Criteria Provided
Single Submitter

1 SubmittersRCV002795956

NM_152296.5(ATP1A3):c.2759A>C (p.Gln920Pro)

SNV
Germline

Chr19:41968845

Pathogenic

Dystonia 12

Criteria Provided
Single Submitter

1 SubmittersRCV002909619

NM_152296.5(ATP1A3):c.1109C>T (p.Thr370Ile)

SNV
Germline

Chr19:41981991

Likely pathogenic

Dystonia 12

Criteria Provided
Single Submitter

1 SubmittersRCV003019546

NM_152296.5(ATP1A3):c.2051C>A (p.Ser684Tyr)

SNV
Germline

Chr19:41976459

Likely pathogenic

Dystonia 12

Criteria Provided
Single Submitter

1 SubmittersRCV003039836

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

2 SubmittersRCV003143612 RCV003778826

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

2 SubmittersRCV003223518 RCV003333250

NM_152296.5(ATP1A3):c.994-1G>A

SNV
Germline

Chr19:41982107

Likely pathogenic

Dystonia 12

Criteria Provided
Single Submitter

1 SubmittersRCV003516089

NM_152296.5(ATP1A3):c.977T>C (p.Leu326Pro)

SNV
Germline

Chr19:41984934

Likely pathogenic

Dystonia 12

Criteria Provided
Single Submitter

1 SubmittersRCV003627878

NM_152296.5(ATP1A3):c.2167G>C (p.Ala723Pro)

SNV
Germline

Chr19:41975725

Pathogenic

Dystonia 12

Criteria Provided
Single Submitter

1 SubmittersRCV003628175

NM_152296.5(ATP1A3):c.1807-2A>G

SNV
Germline

Chr19:41978074

Likely pathogenic

Dystonia 12

Criteria Provided
Single Submitter

1 SubmittersRCV003626139