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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

MSeqDR Mitochondrial Disease Portal

*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO

Disease Browser
Parent Node: Dystonic Disorders (D020821)
..Starting node ..Dystonia 12 (C538001)
Child Nodes:
Sister Nodes:
..Dystonia 12 (C538001)
..Dystonia 16 (C567430)
..Dystonia 17, Torsion, Autosomal Recessive (C567319)
..Dystonia 18 (C564288) 1
..Dystonia 3, Torsion, X-Linked (C564048)
..Dystonia Musculorum Deformans (D004422) 7
..Dystonia with Ringbinden (C565608)
..DYSTONIA, CHILDHOOD-ONSET, WITH OPTIC ATROPHY AND BASAL GANGLIA ABNORMALITIES (OMIM:617282)
..Dystonia, Dopa-responsive (C538007)
..Dystonia, Focal, Task-Specific (C566973)
..Dystonia-Parkinsonism, Adult-Onset (C567844)
..Epilepsy, rolandic with paroxysmal exercise-induced dystonia and writer's cramp (C535499)
..Juvenile-onset dystonia (C537704)
..Meige Syndrome (D008538)
..Myoclonic dystonia (C536096)
..Parkinsonism-Dystonia, Infantile (C567730)
..Segawa syndrome, autosomal recessive (C537537)
..Torticollis (D014103) 5
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

3922

Name:

Dystonia 12

Definition:

Alternative IDs:

OMIM:128235

ParentIDs:

MESH:D020821

TreeNumbers:

C10.228.662.300/C538001

Synonyms:

Dystonia-Parkinsonism, Rapid-Onset |Dyt12 |Rapid-onset dystonia-parkinsonism |Rapid-Onset Dystonia Parkinsonism |RDP

Slim Mappings:

Nervous system disease

Reference:

MedGen: C538001
MeSH: C538001
OMIM: 128235;
MSeqDR :
Genes: ATP1A3;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0011462	Young adult onset	HP:0040282
3	HP:0000739	Anxiety NAMDC: Anxiety
4	HP:0002067	Bradykinesia
5	HP:0000716	Depressivity NAMDC: Depression
6	HP:0002307	Drooling
7	HP:0001260	Dysarthria NAMDC: Dysarthria
8	HP:0002015	Dysphagia NAMDC: Dysphagia
9	HP:0000712	Emotional lability
10	HP:0000338	Hypomimic face
11	HP:0003829	Incomplete penetrance
12	HP:0002300	Mutism
13	HP:0001300	Parkinsonism NAMDC: Parkinsonism
14	HP:0002172	Postural instability
15	HP:0000473	Torticollis
16	HP:0002317	Unsteady gait

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_152296.5(ATP1A3):c.*315G>A	478	ATP1A3	Benign/Likely benign	571857150	RCV000326946\|RCV000383979\|RCV001539320\|RCV002259852\|RCV002259853;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820, Orphanet:2131\|MedGen:C3661900\|MONDO:MONDO:0011038,MedGen:C1832466,OMIM:601338, Orphanet:1171\|MONDO:MONDO:0030473,MedGen:C5562018,OMIM:619606	19	42470774	42470774	NC_000019.9:g.42470774C>T	ClinGen:CA9467137	C0338488 Alternating hemiplegia of childhood;
NM_152296.5(ATP1A3):c.*298C>T	478	ATP1A3	Uncertain significance	781980860	RCV000291971\|RCV000349554;	N	MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820, Orphanet:2131\|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42470791	42470791	NC_000019.9:g.42470791G>A	ClinGen:CA9467142	C0338488 Alternating hemiplegia of childhood;
NM_152296.5(ATP1A3):c.*280T>A	478	ATP1A3	Uncertain significance	886054472	RCV000295695\|RCV000387790;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820, Orphanet:2131	19	42470809	42470809	NC_000019.9:g.42470809A>T	ClinGen:CA10642891	C0338488 Alternating hemiplegia of childhood;
NM_152296.5(ATP1A3):c.*247C>T	478	ATP1A3	Benign	565195548	RCV001130115\|RCV001130116\|RCV001709705\|RCV002260141\|RCV002260142;	N	MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820, Orphanet:2131\|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|MedGen:C3661900\|MONDO:MONDO:0011038,MedGen:C1832466,OMIM:601338, Orphanet:1171\|MONDO:MONDO:0030473,MedGen:C5562018,OMIM:619606	19	42470842	42470842	19:g.42470842G>A	-
NM_152296.5(ATP1A3):c.*236T>C	478	ATP1A3	Benign	199854166	RCV000334263\|RCV000404501;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820, Orphanet:2131	19	42470853	42470853	NC_000019.9:g.42470853A>G	ClinGen:CA9467149	C0338488 Alternating hemiplegia of childhood;
NM_152296.5(ATP1A3):c.*206T>C	478	ATP1A3	Uncertain significance	1197209551	RCV001130818\|RCV001130819;	N	MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820, Orphanet:2131\|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42470883	42470883	19:g.42470883A>G	-
NM_152296.5(ATP1A3):c.*106T>C	478	ATP1A3	Benign/Likely benign	180885057	RCV000299464\|RCV000337913\|RCV001575786\|RCV002259854\|RCV002259855;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820, Orphanet:2131\|MedGen:C3661900\|MONDO:MONDO:0011038,MedGen:C1832466,OMIM:601338, Orphanet:1171\|MONDO:MONDO:0030473,MedGen:C5562018,OMIM:619606	19	42470983	42470983	NC_000019.9:g.42470983A>G	ClinGen:CA9467156	C0338488 Alternating hemiplegia of childhood;
NM_152296.5(ATP1A3):c.*99C>G	478	ATP1A3	Uncertain significance	1555858636	RCV001130821\|RCV001130820;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820, Orphanet:2131	19	42470990	42470990	19:g.42470990G>C	-
NM_152296.5(ATP1A3):c.*39C>G	478	ATP1A3	Benign	919390	RCV000303064\|RCV000396748\|RCV001553873\|RCV001712051;	N	MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820, Orphanet:2131\|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|MONDO:MONDO:0011038,MedGen:C1832466,OMIM:601338, Orphanet:1171\|MedGen:C3661900	19	42471050	42471050	NC_000019.9:g.42471050G>C	ClinGen:CA9467166	C0338488 Alternating hemiplegia of childhood;
NC_000019.10:g.(?_41966917)_(41978818_?)dup	478	ATP1A3	Uncertain significance	-1	RCV001032365;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42471069	42482970	-1	-
NM_152296.5(ATP1A3):c.*13C>A	478	ATP1A3	Uncertain significance	781878302	RCV001133792\|RCV001133793;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820, Orphanet:2131	19	42471076	42471076	19:g.42471076G>T	-
NC_000019.9:g.(?_42471089)_(42486278_?)del	478	ATP1A3	Pathogenic	-1	RCV003113685;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42471089	42486278		-
NM_152296.5(ATP1A3):c.3035ACT[3] (p.Tyr1013dup)	478	ATP1A3	Pathogenic	397515382	RCV000148335;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42471090	42471091	NC_000019.9:g.42471091_42471093dupAGT	ClinGen:CA346046,OMIM:182350.0008	C1868681 128235 Dystonia 12;
NM_152296.5(ATP1A3):c.3027G>T (p.Lys1009Asn)	478	ATP1A3	Uncertain significance	-1	RCV002717163;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42471104	42471104	NC_000019.9:g.42471104C>A	-
NM_152296.5(ATP1A3):c.3024G>A (p.Glu1008=)	478	ATP1A3	Likely benign	-1	RCV002629318;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42471107	42471107		-
NM_152296.5(ATP1A3):c.3014G>A (p.Gly1005Asp)	478	ATP1A3	Uncertain significance	1428514255	RCV000797398;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42471117	42471117	19:g.42471117C>T	-
NM_152296.5(ATP1A3):c.3014-5T>C	478	ATP1A3	Likely benign	782325963	RCV001457314;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42471122	42471122	42471122	-
NM_152296.5(ATP1A3):c.3014-11T>C	478	ATP1A3	Likely benign	868980016	RCV002147972;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42471128	42471128	42471128	-
NM_152296.5(ATP1A3):c.3013+13G>C	478	ATP1A3	Likely benign	-1	RCV002630081;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42471388	42471388	NC_000019.9:g.42471388C>G	-
NM_152296.5(ATP1A3):c.3013+13G>A	478	ATP1A3	Likely benign	-1	RCV002725715;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42471388	42471388	NC_000019.9:g.42471388C>T	-
NM_152296.5(ATP1A3):c.3013+12C>T	478	ATP1A3	Conflicting interpretations of pathogenicity	782424595	RCV001133794\|RCV001133795;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820, Orphanet:2131	19	42471389	42471389	19:g.42471389G>A	-
NM_152296.5(ATP1A3):c.3013+10C>G	478	ATP1A3	Uncertain significance	782023293	RCV001337870;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42471391	42471391	42471391	-
NM_152296.5(ATP1A3):c.3013+1G>A	478	ATP1A3	Pathogenic	2145941195	RCV001369157;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42471400	42471400	42471400	-
NM_152296.5(ATP1A3):c.3011G>C (p.Gly1004Ala)	478	ATP1A3	Uncertain significance	782204932	RCV001216943;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42471403	42471403	19:g.42471403C>G	-
NM_152296.5(ATP1A3):c.3011G>T (p.Gly1004Val)	478	ATP1A3	Uncertain significance	782204932	RCV001236556;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42471403	42471403	19:g.42471403C>A	-
NM_152296.5(ATP1A3):c.3008C>T (p.Pro1003Leu)	478	ATP1A3	Uncertain significance	2075053042	RCV001055998;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42471406	42471406	19:g.42471406G>A	-
NM_152296.5(ATP1A3):c.3006C>T (p.Asn1002=)	478	ATP1A3	Likely benign	782086452	RCV002188593;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42471408	42471408	42471408	-
NM_152296.5(ATP1A3):c.2998C>T (p.Arg1000Cys)	478	ATP1A3	Uncertain significance	782778986	RCV001223350;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42471416	42471416	19:g.42471416G>A	-
NM_152296.5(ATP1A3):c.2997G>T (p.Leu999=)	478	ATP1A3	Likely benign	1172518925	RCV001418370;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42471417	42471417	42471417	-
NM_152296.5(ATP1A3):c.2996T>C (p.Leu999Pro)	478	ATP1A3	Uncertain significance	2145941265	RCV001996172\|RCV002307827;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|MedGen:C3661900	19	42471418	42471418	42471418	-
NM_152296.5(ATP1A3):c.2966_2996del (p.Phe989fs)	478	ATP1A3	Pathogenic	-1	RCV003024079;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42471418	42471448	NC_000019.9:g.42471420_42471450del	-
NM_152296.5(ATP1A3):c.2994C>T (p.Ile998=)	478	ATP1A3	Likely benign	1555858831	RCV002135825;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42471420	42471420	42471420	-
NM_152296.5(ATP1A3):c.2977_2994del (p.Glu993_Ile998del)	478	ATP1A3	Uncertain significance	-1	RCV002851186;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42471420	42471437	NC_000019.9:g.42471421_42471438del	-
NM_152296.5(ATP1A3):c.2977_2982dup (p.Ile994_Arg995insGluIle)	478	ATP1A3	Likely pathogenic	-1	RCV003043570;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42471431	42471432	NC_000019.9:g.42471433_42471438dup	-
NM_152296.5(ATP1A3):c.2980A>G (p.Ile994Val)	478	ATP1A3	Uncertain significance	-1	RCV003029417;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42471434	42471434	NC_000019.9:g.42471434T>C	-
NM_152296.5(ATP1A3):c.2976C>T (p.Asp992=)	478	ATP1A3	Benign	146199765	RCV000552938\|RCV002260010\|RCV002260008\|RCV001683573\|RCV002260009;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|MONDO:MONDO:0030473,MedGen:C5562018,OMIM:619606\|MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820, Orphanet:2131\|MedGen:C3661900\|MONDO:MONDO:0011038,MedGen:C1832466,OMIM:601338, Orphanet:1171	19	42471438	42471438	19:g.42471438G>A	ClinGen:CA9467234	C1868681 128235 Dystonia 12;
NM_152296.5(ATP1A3):c.2971_2976del (p.Tyr991_Asp992del)	478	ATP1A3	Uncertain significance	2145941324	RCV001924205;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42471438	42471443	42471437	-
NM_152296.5(ATP1A3):c.2974G>C (p.Asp992His)	478	ATP1A3	Uncertain significance	606231447	RCV000696859;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42471440	42471440	NC_000019.9:g.42471440C>G	-	C1868681 128235 Dystonia 12;
NM_152296.5(ATP1A3):c.2974G>A (p.Asp992Asn)	478	ATP1A3	Uncertain significance	606231447	RCV001757861\|RCV002032779;	N	MedGen:C3661900\|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42471440	42471440	42471440	-
NM_152296.5(ATP1A3):c.2973C>T (p.Tyr991=)	478	ATP1A3	Likely benign	372919447	RCV001393504\|RCV003416314;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|MedGen:C3661900	19	42471441	42471441	42471441	-
NM_152296.5(ATP1A3):c.2969T>C (p.Val990Ala)	478	ATP1A3	Uncertain significance	2145941354	RCV001914687;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42471445	42471445	42471445	-
NM_152296.5(ATP1A3):c.2968G>A (p.Val990Ile)	478	ATP1A3	Uncertain significance	781786336	RCV000437172\|RCV001319729\|RCV002480300;	N	MedGen:CN517202\|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820, Orphanet:2131; MONDO:MONDO:0011038,MedGen:C1832466,OMIM:601338, Orphanet:1171; MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Or	19	42471446	42471446	19:g.42471446C>T	ClinGen:CA9467236	CN169374 not specified;
NM_152296.5(ATP1A3):c.2967C>T (p.Phe989=)	478	ATP1A3	Likely benign	-1	RCV002635731;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42471447	42471447		-
NM_152296.5(ATP1A3):c.2946C>T (p.Phe982=)	478	ATP1A3	Likely benign	182309368	RCV001423719;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42471468	42471468	42471468	-
NM_152296.5(ATP1A3):c.2943C>T (p.Ala981=)	478	ATP1A3	Likely benign	1439299124	RCV001414791;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42471471	42471471	42471471	-
NM_152296.5(ATP1A3):c.2940T>A (p.Cys980Ter)	478	ATP1A3	Uncertain significance	-1	RCV002290295;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42471474	42471474	42471474	-
NM_152296.5(ATP1A3):c.2937C>T (p.Phe979=)	478	ATP1A3	Likely benign	965301142	RCV001398892;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42471477	42471477	19:g.42471477G>A	-
NM_152296.5(ATP1A3):c.2922-6C>T	478	ATP1A3	Likely benign	1185127716	RCV001498398;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42471498	42471498	42471498	-
NM_152296.5(ATP1A3):c.2922-6C>G	478	ATP1A3	Likely benign	1185127716	RCV002084874;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42471498	42471498	42471498	-
NM_152296.5(ATP1A3):c.2922-8C>A	478	ATP1A3	Likely benign	1555858851	RCV002083617;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42471500	42471500	42471500	-
NM_152296.5(ATP1A3):c.2922-17T>G	478	ATP1A3	Likely benign	-1	RCV002696201;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42471509	42471509	NC_000019.9:g.42471509A>C	-
NM_152296.5(ATP1A3):c.2921+18C>T	478	ATP1A3	Likely benign	-1	RCV002598845;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42471796	42471796	NC_000019.9:g.42471796G>A	-
NM_152296.5(ATP1A3):c.2921+12G>A	478	ATP1A3	Likely benign	-1	RCV003041348;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42471802	42471802	NC_000019.9:g.42471802C>T	-
NM_152296.5(ATP1A3):c.2921+11C>T	478	ATP1A3	Benign	190570469	RCV001645630\|RCV002072988\|RCV002260246\|RCV002260247\|RCV002260245;	N	MedGen:C3661900\|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|MONDO:MONDO:0011038,MedGen:C1832466,OMIM:601338, Orphanet:1171\|MONDO:MONDO:0030473,MedGen:C5562018,OMIM:619606\|MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820, Orphanet:2131	19	42471803	42471803	42471803	-
NM_152296.5(ATP1A3):c.2921+1G>C	478	ATP1A3	Likely pathogenic	2075058462	RCV001300685;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42471813	42471813	42471813	-
NM_152296.5(ATP1A3):c.2908A>C (p.Met970Leu)	478	ATP1A3	Uncertain significance	-1	RCV002791144;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42471827	42471827	NC_000019.9:g.42471827T>G	-
NM_152296.5(ATP1A3):c.2907C>T (p.Arg969=)	478	ATP1A3	Uncertain significance	782611500	RCV002033105;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42471828	42471828	42471828	-
NM_152296.5(ATP1A3):c.2906G>A (p.Arg969His)	478	ATP1A3	Uncertain significance	1555858925	RCV001918034;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42471829	42471829	42471829	-
NM_152296.5(ATP1A3):c.2898G>A (p.Val966=)	478	ATP1A3	Likely benign	1555858932	RCV001991073;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42471837	42471837	42471837	-
NM_152296.5(ATP1A3):c.2896G>A (p.Val966Met)	478	ATP1A3	Uncertain significance	782665893	RCV000436297\|RCV002522370;	N	MedGen:CN517202\|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42471839	42471839	19:g.42471839C>T	ClinGen:CA9467264	CN169374 not specified;
NM_152296.5(ATP1A3):c.2895C>T (p.Asp965=)	478	ATP1A3	Likely benign	782437931	RCV000868069;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42471840	42471840	19:g.42471840G>A	-
NM_152296.5(ATP1A3):c.2887G>A (p.Gly963Ser)	478	ATP1A3	Uncertain significance	200582951	RCV001319742\|RCV003405540;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|	19	42471848	42471848	42471848	-
NM_152296.5(ATP1A3):c.2886C>T (p.Pro962=)	478	ATP1A3	Benign/Likely benign	141412861	RCV000540448\|RCV001662572\|RCV002260006\|RCV002260005\|RCV002260007\|RCV003409798;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|MedGen:CN169374\|MONDO:MONDO:0011038,MedGen:C1832466,OMIM:601338, Orphanet:1171\|MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820, Orphanet:2131\|MONDO:MONDO:0030473,MedGen:C5562018,OMIM:619606\|Me	19	42471849	42471849	19:g.42471849G>A	ClinGen:CA9467267	C1868681 128235 Dystonia 12;
NM_152296.5(ATP1A3):c.2885C>A (p.Pro962His)	478	ATP1A3	Uncertain significance	145179304	RCV000488938\|RCV000693938\|RCV003387856;	N	MedGen:CN517202\|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|MedGen:CN169374	19	42471850	42471850	19:g.42471850G>T	ClinGen:CA308584673	C1868681 128235 Dystonia 12;
NM_152296.5(ATP1A3):c.2880C>T (p.Tyr960=)	478	ATP1A3	Likely benign	534301907	RCV002092946;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42471855	42471855	42471855	-
NM_152296.5(ATP1A3):c.2877C>T (p.Ser959=)	478	ATP1A3	Likely benign	-1	RCV002627224;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42471858	42471858		-
NM_152296.5(ATP1A3):c.2872C>T (p.Leu958=)	478	ATP1A3	Likely benign	-1	RCV002890504;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42471863	42471863		-
NM_152296.5(ATP1A3):c.2860C>T (p.Leu954=)	478	ATP1A3	Likely benign	-1	RCV003079364;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42471875	42471875		-
NM_152296.5(ATP1A3):c.2859C>T (p.Ala953=)	478	ATP1A3	Likely benign	1555858949	RCV000532282;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42471876	42471876	19:g.42471876G>A	ClinGen:CA507580667	C1868681 128235 Dystonia 12;
NM_152296.5(ATP1A3):c.2856G>A (p.Thr952=)	478	ATP1A3	Likely benign	148292376	RCV000556205\|RCV001584298;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|MedGen:CN517202	19	42471879	42471879	19:g.42471879C>T	ClinGen:CA9467270	C1868681 128235 Dystonia 12;
NM_152296.5(ATP1A3):c.2851G>A (p.Glu951Lys)	478	ATP1A3	Likely pathogenic	2145942372	RCV002010428;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42471884	42471884	42471884	-
NM_152296.5(ATP1A3):c.2845T>C (p.Phe949Leu)	478	ATP1A3	Uncertain significance	2145942388	RCV001927642;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42471890	42471890	42471890	-
NM_152296.5(ATP1A3):c.2841G>T (p.Gly947=)	478	ATP1A3	Likely benign	-1	RCV003055945;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42471894	42471894		-
NM_152296.5(ATP1A3):c.2839G>A (p.Gly947Arg)	478	ATP1A3	Pathogenic	398122887	RCV000030752\|RCV000415180\|RCV000418823\|RCV000476589\|RCV000763431;	N	MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820, Orphanet:2131\|Human Phenotype Ontology:HP:0002301,MONDO:MONDO:0001170,MedGen:C0018991; MONDO:MONDO:0005027,MeSH:D004827,MedGen:C0014544\|MedGen:C3661900\|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235,Orphan	19	42471896	42471896	19:g.42471896C>T	ClinGen:CA342905,UniProtKB:P13637#VAR_068950,OMIM:182350.0012	C3553788 614820 Alternating hemiplegia of childhood 2;
NM_152296.5(ATP1A3):c.2839G>C (p.Gly947Arg)	478	ATP1A3	Pathogenic	398122887	RCV000128466\|RCV001849915;	N	MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820, Orphanet:2131\|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42471896	42471896	NC_000019.9:g.42471896C>G	ClinGen:CA345685,UniProtKB:P13637#VAR_068950,OMIM:182350.0013	C3553788 614820 Alternating hemiplegia of childhood 2;
NM_152296.5(ATP1A3):c.2839G>T (p.Gly947Trp)	478	ATP1A3	Pathogenic/Likely pathogenic	398122887	RCV000850517\|RCV001039394;	N	MONDO:MONDO:0011038,MedGen:C1832466,OMIM:601338, Orphanet:1171; MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517; MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820, Orphanet:2131\|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42471896	42471896	19:g.42471896C>A	-
NM_152296.5(ATP1A3):c.2838C>T (p.Phe946=)	478	ATP1A3	Benign/Likely benign	141421692	RCV000267838\|RCV000360106\|RCV002259856\|RCV002259857;	N	MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820, Orphanet:2131\|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|MONDO:MONDO:0011038,MedGen:C1832466,OMIM:601338, Orphanet:1171\|MONDO:MONDO:0030473,MedGen:C5562018,OMIM:619606	19	42471897	42471897	NC_000019.9:g.42471897G>A	ClinGen:CA9467271	C0338488 Alternating hemiplegia of childhood;
NM_152296.5(ATP1A3):c.2835C>A (p.Ile945=)	478	ATP1A3	Uncertain significance	2075059472	RCV001195934;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42471900	42471900	19:g.42471900G>T	-
NM_152296.5(ATP1A3):c.2829C>G (p.Ile943Met)	478	ATP1A3	Uncertain significance	1330371427	RCV001904771;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42471906	42471906	42471906	-
NM_152296.5(ATP1A3):c.2820-12C>T	478	ATP1A3	Likely benign	2145942473	RCV002202145;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42471927	42471927	42471927	-
NM_152296.5(ATP1A3):c.2819+20G>A	478	ATP1A3	Benign	148592392	RCV001516210\|RCV001685391\|RCV002260162\|RCV002260163\|RCV002260161;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|MedGen:C3661900\|MONDO:MONDO:0011038,MedGen:C1832466,OMIM:601338, Orphanet:1171\|MONDO:MONDO:0030473,MedGen:C5562018,OMIM:619606\|MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820, Orphanet:2131	19	42472917	42472917	42472917	-
NM_152296.5(ATP1A3):c.2819+17_2819+18del	478	ATP1A3	Likely benign	-1	RCV002805981;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42472919	42472920	NC_000019.9:g.42472919TG[1]	-
NM_152296.5(ATP1A3):c.2819+12G>A	478	ATP1A3	Likely benign	782653272	RCV002143048\|RCV002500280;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|MONDO:MONDO:0030473,MedGen:C5562018,OMIM:619606; MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820, Orphanet:2131; MONDO:MONDO:0011038,MedGen:C1832466,OMIM:601338, Orphanet:1171; MONDO:MONDO:000749	19	42472925	42472925	42472925	-
NM_152296.5(ATP1A3):c.2819+10G>A	478	ATP1A3	Likely benign	782236178	RCV000870033;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42472927	42472927	19:g.42472927C>T	-
NC_000019.10:g.(?_41968775)_(41970552_?)del	478	ATP1A3	Pathogenic	-1	RCV001032237;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42472927	42474704	-1	-
NM_152296.5(ATP1A3):c.2819+9C>T	478	ATP1A3	Likely benign	976302465	RCV001416970;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42472928	42472928	42472928	-
NM_152296.5(ATP1A3):c.2819+7G>T	478	ATP1A3	Uncertain significance	1599704395	RCV000791811;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42472930	42472930	19:g.42472930C>A	-
NM_152296.5(ATP1A3):c.2819+3G>A	478	ATP1A3	Uncertain significance	782555113	RCV001135282\|RCV001135283;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820, Orphanet:2131	19	42472934	42472934	19:g.42472934C>T	-
NM_152296.5(ATP1A3):c.2801T>C (p.Val934Ala)	478	ATP1A3	Uncertain significance	2075071034	RCV001349714\|RCV003148982;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|MedGen:CN517202	19	42472955	42472955	42472955	-
NM_152296.5(ATP1A3):c.2799G>C (p.Ser933=)	478	ATP1A3	Likely benign	150417636	RCV002097165;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42472957	42472957	42472957	-
NM_152296.5(ATP1A3):c.2799G>A (p.Ser933=)	478	ATP1A3	Likely benign	-1	RCV002612310;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42472957	42472957		-
NM_152296.5(ATP1A3):c.2798C>T (p.Ser933Leu)	478	ATP1A3	Uncertain significance	2145944540	RCV002023748;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42472958	42472958	42472958	-
NM_152296.5(ATP1A3):c.2790G>A (p.Arg930=)	478	ATP1A3	Likely benign	782317175	RCV000960000;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42472966	42472966	19:g.42472966C>T	-
NM_152296.5(ATP1A3):c.2790G>T (p.Arg930=)	478	ATP1A3	Uncertain significance	-1	RCV003079094;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42472966	42472966		-
NM_152296.5(ATP1A3):c.2789G>A (p.Arg930Gln)	478	ATP1A3	Uncertain significance	2145944562	RCV001897811;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42472967	42472967	42472967	-
NM_152296.5(ATP1A3):c.2788C>T (p.Arg930Trp)	478	ATP1A3	Uncertain significance	1555859150	RCV000585512\|RCV003129931;	N	MedGen:C3661900\|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42472968	42472968	19:g.42472968G>A	ClinGen:CA406035882	CN517202 not provided;
NM_152296.5(ATP1A3):c.2786C>T (p.Thr929Ile)	478	ATP1A3	Uncertain significance	2075071279	RCV001312340;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42472970	42472970	42472970	-
NM_152296.5(ATP1A3):c.2777T>G (p.Ile926Ser)	478	ATP1A3	Uncertain significance	2075071439	RCV001064988;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42472979	42472979	19:g.42472979A>C	-
NM_152296.5(ATP1A3):c.2773A>G (p.Ile925Val)	478	ATP1A3	Uncertain significance	2145944590	RCV001908814;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42472983	42472983	42472983	-
NM_152296.5(ATP1A3):c.2771T>C (p.Leu924Pro)	478	ATP1A3	Pathogenic	1555859157	RCV000622298\|RCV001047167;	N	MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42472985	42472985	19:g.42472985A>G	ClinGen:CA406035981	C0950123 Inborn genetic diseases;
NM_152296.5(ATP1A3):c.2768A>C (p.Asp923Ala)	478	ATP1A3	Pathogenic	2075071528	RCV001235897;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42472988	42472988	19:g.42472988T>G	-
NM_152296.5(ATP1A3):c.2767G>A (p.Asp923Asn)	478	ATP1A3	Pathogenic	267606670	RCV000013778\|RCV000128465\|RCV000763432\|RCV003233069\|RCV003389231;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820, Orphanet:2131\|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517; MONDO:MONDO:0011038,MedGen:C1832466,OMIM:601338, Orphanet:1171; MON	19	42472989	42472989	19:g.42472989C>T	ClinGen:CA163277,UniProtKB:P13637#VAR_068949,OMIM:182350.0007	C3553788 614820 Alternating hemiplegia of childhood 2;
NM_152296.5(ATP1A3):c.2767G>T (p.Asp923Tyr)	478	ATP1A3	Pathogenic	267606670	RCV000148329\|RCV000489720\|RCV000689821;	N	MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820, Orphanet:2131\|MedGen:CN517202\|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42472989	42472989	NC_000019.9:g.42472989C>A	ClinGen:CA346037,UniProtKB:P13637#VAR_070773,OMIM:182350.0015	C3553788 614820 Alternating hemiplegia of childhood 2;
NM_152296.5(ATP1A3):c.2767G>C (p.Asp923His)	478	ATP1A3	Pathogenic	267606670	RCV002249284;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42472989	42472989	42472989	-
NM_152296.5(ATP1A3):c.2766C>T (p.Ala922=)	478	ATP1A3	Likely benign	-1	RCV002628083;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42472990	42472990		-
NM_152296.5(ATP1A3):c.2763G>A (p.Trp921Ter)	478	ATP1A3	Pathogenic	1060500993	RCV000467092;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42472993	42472993	NC_000019.9:g.42472993C>T	ClinGen:CA16616281	C1868681 128235 Dystonia 12;
NM_152296.5(ATP1A3):c.2759A>C (p.Gln920Pro)	478	ATP1A3	Pathogenic	-1	RCV002909619;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42472997	42472997	NC_000019.9:g.42472997T>G	-
NM_152296.5(ATP1A3):c.2752GTC[1] (p.Val919del)	478	ATP1A3	Pathogenic	606231443	RCV000818134;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42472999	42473001	NC_000019.9:g.42472999GAC[1]	ClinGen:CA346035	C3553788 614820 Alternating hemiplegia of childhood 2;
NM_152296.5(ATP1A3):c.2757C>T (p.Val919=)	478	ATP1A3	Likely benign	2145944643	RCV001441165;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42472999	42472999	42472999	-
NM_152296.5(ATP1A3):c.2755G>A (p.Val919Ile)	478	ATP1A3	Uncertain significance	-1	RCV003093079;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42473001	42473001	NC_000019.9:g.42473001C>T	-
NM_152296.5(ATP1A3):c.2754C>T (p.Val918=)	478	ATP1A3	Likely benign	-1	RCV002634787;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42473002	42473002		-
NM_152296.5(ATP1A3):c.2748C>T (p.Ile916=)	478	ATP1A3	Likely benign	782390447	RCV001786251\|RCV002074084;	N	MedGen:C3661900\|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42473008	42473008	42473008	-
NM_152296.5(ATP1A3):c.2733CTT[1] (p.Phe913del)	478	ATP1A3	Likely pathogenic	-1	RCV003148187;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42473018	42473020		-
NM_152296.5(ATP1A3):c.2730G>A (p.Thr910=)	478	ATP1A3	Likely benign	377758618	RCV001204734;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42473026	42473026	19:g.42473026C>T	-
NM_152296.5(ATP1A3):c.2723G>C (p.Cys908Ser)	478	ATP1A3	Uncertain significance	2075072029	RCV001933158;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42473033	42473033	42473033	-
NM_152296.5(ATP1A3):c.2707G>T (p.Val903Leu)	478	ATP1A3	Uncertain significance	-1	RCV003071366;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42473049	42473049	NC_000019.9:g.42473049C>A	-
NM_152296.5(ATP1A3):c.2703G>A (p.Arg901=)	478	ATP1A3	Likely benign	1347375704	RCV001410883;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42473053	42473053	42473053	-
NM_152296.5(ATP1A3):c.2694C>T (p.Tyr898=)	478	ATP1A3	Likely benign	1036805125	RCV001493755;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42473062	42473062	42473062	-
NM_152296.5(ATP1A3):c.2691A>T (p.Thr897=)	478	ATP1A3	Likely benign	-1	RCV002717138;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42473065	42473065		-
NM_152296.5(ATP1A3):c.2689-1G>T	478	ATP1A3	Likely pathogenic	2145944794	RCV001726499;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42473068	42473068	42473068	-
NM_152296.5(ATP1A3):c.2689-4G>A	478	ATP1A3	Likely benign	2145944806	RCV002136621;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42473071	42473071	42473071	-
NM_152296.5(ATP1A3):c.2689-10G>A	478	ATP1A3	Likely benign	-1	RCV003076878;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42473077	42473077	NC_000019.9:g.42473077C>T	-
NM_152296.5(ATP1A3):c.2689-11C>T	478	ATP1A3	Likely benign	782509039	RCV001563399\|RCV002070392;	N	MedGen:C3661900\|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42473078	42473078	42473078	-
NM_152296.5(ATP1A3):c.2689-11C>G	478	ATP1A3	Likely benign	782509039	RCV002119985;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42473078	42473078	42473078	-
NM_152296.5(ATP1A3):c.2689-17G>T	478	ATP1A3	Likely benign	370286197	RCV002096106;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42473084	42473084	42473084	-
NM_152296.5(ATP1A3):c.2689-19C>G	478	ATP1A3	Likely benign	781881227	RCV002200505;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42473086	42473086	42473086	-
NM_152296.5(ATP1A3):c.2688+17del	478	ATP1A3	Likely benign	-1	RCV003071753;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42473570	42473570	NC_000019.9:g.42473570del	-
NM_152296.5(ATP1A3):c.2688+11C>A	478	ATP1A3	Likely benign	782430886	RCV000306660\|RCV000363684;	N	MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820, Orphanet:2131\|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42473576	42473576	NC_000019.9:g.42473576G>T	ClinGen:CA9467327	C0338488 Alternating hemiplegia of childhood;
NM_152296.5(ATP1A3):c.2688+9G>A	478	ATP1A3	Likely benign	-1	RCV002834100;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42473578	42473578	NC_000019.9:g.42473578C>T	-
NM_152296.5(ATP1A3):c.2688+6T>C	478	ATP1A3	Uncertain significance	2075078801	RCV001303176;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42473581	42473581	42473581	-
NM_152296.5(ATP1A3):c.2673_2678del (p.Ser891_Gly893delinsArg)	478	ATP1A3	Uncertain significance	2145945805	RCV001959793;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42473597	42473602	42473596	-
NM_152296.5(ATP1A3):c.2677G>C (p.Gly893Arg)	478	ATP1A3	Likely pathogenic	1568853466	RCV000705732;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42473598	42473598	19:g.42473598C>G	-	C1868681 128235 Dystonia 12;
NM_152296.5(ATP1A3):c.2677G>A (p.Gly893Arg)	478	ATP1A3	Pathogenic	1568853466	RCV001546327\|RCV002568966;	N	MedGen:C3661900\|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42473598	42473598	42473598	-
NM_152296.5(ATP1A3):c.2676C>T (p.Tyr892=)	478	ATP1A3	Likely benign	782625641	RCV001546657\|RCV002072000;	N	MedGen:C3661900\|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42473599	42473599	42473599	-
NM_152296.5(ATP1A3):c.2664G>A (p.Leu888=)	478	ATP1A3	Likely benign	-1	RCV003053189;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42473611	42473611		-
NM_152296.5(ATP1A3):c.2653G>A (p.Val885Ile)	478	ATP1A3	Conflicting interpretations of pathogenicity	149600313	RCV000538377\|RCV001086631\|RCV002260003\|RCV002260004\|RCV002260002\|RCV003403309;	N	MedGen:C3661900\|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|MONDO:MONDO:0011038,MedGen:C1832466,OMIM:601338, Orphanet:1171\|MONDO:MONDO:0030473,MedGen:C5562018,OMIM:619606\|MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820, Orphanet:2131\|	19	42473622	42473622	NC_000019.9:g.42473622C>T	ClinGen:CA9467329	C1868681 128235 Dystonia 12;
NM_152296.5(ATP1A3):c.2652dup (p.Val885fs)	478	ATP1A3	Pathogenic	2145945849	RCV001945371;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42473622	42473623	42473622	-
NM_152296.5(ATP1A3):c.2652C>T (p.Thr884=)	478	ATP1A3	Likely benign	1156548474	RCV001413416;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42473623	42473623	42473623	-
NM_152296.5(ATP1A3):c.2649C>T (p.Arg883=)	478	ATP1A3	Likely benign	-1	RCV003118848;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42473626	42473626		-
NM_152296.5(ATP1A3):c.2647C>T (p.Arg883Cys)	478	ATP1A3	Likely benign	1555859299	RCV000644924;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42473628	42473628	19:g.42473628G>A	ClinGen:CA406037819	C1868681 128235 Dystonia 12;
NM_152296.5(ATP1A3):c.2634G>A (p.Leu878=)	478	ATP1A3	Benign	782293282	RCV001514982;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42473641	42473641	19:g.42473641C>T	-
NM_152296.5(ATP1A3):c.2631dup (p.Leu878fs)	478	ATP1A3	Likely pathogenic	2145945887	RCV001838832;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42473643	42473644	42473643	-
NM_152296.5(ATP1A3):c.2629C>T (p.Arg877Trp)	478	ATP1A3	Uncertain significance	-1	RCV002629679;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42473646	42473646	NC_000019.9:g.42473646G>A	-
NM_152296.5(ATP1A3):c.2616C>G (p.Asn872Lys)	478	ATP1A3	Likely benign	782057287	RCV001467611;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42473659	42473659	NC_000019.9:g.42473659G>C	-	C1868681 128235 Dystonia 12;
NM_152296.5(ATP1A3):c.2616C>A (p.Asn872Lys)	478	ATP1A3	Conflicting interpretations of pathogenicity	782057287	RCV001066027\|RCV001797153;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|MedGen:CN517202	19	42473659	42473659	19:g.42473659G>T	-
NM_152296.5(ATP1A3):c.2610C>T (p.Pro870=)	478	ATP1A3	Benign	35272495	RCV000265803\|RCV000320873\|RCV000710701\|RCV002259858\|RCV002259859;	N	MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820, Orphanet:2131\|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|MedGen:C3661900\|MONDO:MONDO:0011038,MedGen:C1832466,OMIM:601338, Orphanet:1171\|MONDO:MONDO:0030473,MedGen:C5562018,OMIM:619606	19	42473665	42473665	NC_000019.9:g.42473665G>A	ClinGen:CA9467338	C0338488 Alternating hemiplegia of childhood;
NM_152296.5(ATP1A3):c.2610C>G (p.Pro870=)	478	ATP1A3	Likely benign	35272495	RCV001417689;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42473665	42473665	42473665	-
NM_152296.5(ATP1A3):c.2600G>A (p.Gly867Asp)	478	ATP1A3	Pathogenic	606231442	RCV002051815\|RCV002273963;	N	MedGen:C3661900\|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42473675	42473675	NC_000019.9:g.42473675C>T	ClinGen:CA346032	C3553788 614820 Alternating hemiplegia of childhood 2;
NM_152296.5(ATP1A3):c.2592A>T (p.Ala864=)	478	ATP1A3	Likely benign	879984755	RCV001491041;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42473683	42473683	42473683	-
NM_152296.5(ATP1A3):c.2580T>C (p.Phe860=)	478	ATP1A3	Uncertain significance	-1	RCV002617439;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42473695	42473695		-
NM_152296.5(ATP1A3):c.2563_2565del (p.Gly855del)	478	ATP1A3	Uncertain significance	2075079909	RCV001047575;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42473710	42473712	19:g.42473710_42473712del	-
NM_152296.5(ATP1A3):c.2562T>G (p.Gly854=)	478	ATP1A3	Likely benign	2145946002	RCV001424862;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42473713	42473713	42473713	-
NM_152296.5(ATP1A3):c.2560G>A (p.Gly854Ser)	478	ATP1A3	Uncertain significance	2075079968	RCV001580954\|RCV001866197;	N	MedGen:C3661900\|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42473715	42473715	42473715	-
NM_152296.5(ATP1A3):c.2559C>T (p.Leu853=)	478	ATP1A3	Benign/Likely benign	369555293	RCV001135284\|RCV001135285\|RCV002260146\|RCV002260145;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820, Orphanet:2131\|MONDO:MONDO:0030473,MedGen:C5562018,OMIM:619606\|MONDO:MONDO:0011038,MedGen:C1832466,OMIM:601338, Orphanet:1171	19	42473716	42473716	19:g.42473716G>A	-
NM_152296.5(ATP1A3):c.2553G>A (p.Gln851=)	478	ATP1A3	Likely benign	782151853	RCV000644936;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42473722	42473722	NC_000019.9:g.42473722C>T	ClinGen:CA9467341	C1868681 128235 Dystonia 12;
NM_152296.5(ATP1A3):c.2543-6T>A	478	ATP1A3	Conflicting interpretations of pathogenicity	1599705282	RCV000842263\|RCV001858439;	N	MedGen:C3661900\|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42473738	42473738	19:g.42473738A>T	-
NM_152296.5(ATP1A3):c.2543-9T>C	478	ATP1A3	Likely benign	2145946094	RCV001489146;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42473741	42473741	42473741	-
NM_152296.5(ATP1A3):c.2543-10C>T	478	ATP1A3	Likely benign	-1	RCV002636211;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42473742	42473742	NC_000019.9:g.42473742G>A	-
NM_152296.5(ATP1A3):c.2543-13C>T	478	ATP1A3	Likely benign	-1	RCV003084321;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42473745	42473745	NC_000019.9:g.42473745G>A	-
NM_152296.5(ATP1A3):c.2542+17T>C	478	ATP1A3	Likely benign	-1	RCV002944016;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42474320	42474320	NC_000019.9:g.42474320A>G	-
NM_152296.5(ATP1A3):c.2542+11G>A	478	ATP1A3	Likely benign	78146024	RCV002110020;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42474326	42474326	42474326	-
NM_152296.5(ATP1A3):c.2542+10C>G	478	ATP1A3	Likely benign	782693337	RCV000921724;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42474327	42474327	19:g.42474327G>C	-
NM_152296.5(ATP1A3):c.2542+10C>T	478	ATP1A3	Likely benign	-1	RCV002580791;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42474327	42474327	NC_000019.9:g.42474327G>A	-
NM_152296.5(ATP1A3):c.2542+1G>A	478	ATP1A3	Pathogenic	606231441	RCV000148326\|RCV001850014;	N	MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820, Orphanet:2131\|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42474336	42474336	NC_000019.9:g.42474336C>T	ClinGen:CA346031,OMIM:182350.0017	C3553788 614820 Alternating hemiplegia of childhood 2;
NM_152296.5(ATP1A3):c.2542+1G>C	478	ATP1A3	Pathogenic	606231441	RCV001049962;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42474336	42474336	19:g.42474336C>G	-
NM_152296.5(ATP1A3):c.2532C>T (p.Tyr844=)	478	ATP1A3	Likely benign	782485793	RCV002204981;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42474347	42474347	42474347	-
NM_152296.5(ATP1A3):c.2525T>C (p.Met842Thr)	478	ATP1A3	Uncertain significance	-1	RCV002295047;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42474354	42474354	42474354	-
NM_152296.5(ATP1A3):c.2523C>T (p.Ser841=)	478	ATP1A3	Likely benign	1236093021	RCV000616437\|RCV001035939;	N	MedGen:CN169374\|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42474356	42474356	19:g.42474356G>A	ClinGen:CA507694621	CN169374 not specified;
NM_152296.5(ATP1A3):c.2509G>A (p.Glu837Lys)	478	ATP1A3	Uncertain significance	2075087967	RCV001051508;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42474370	42474370	19:g.42474370C>T	-
NM_152296.5(ATP1A3):c.2493G>A (p.Thr831=)	478	ATP1A3	Likely benign	374157034	RCV000644943\|RCV001529670;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|MedGen:CN517202	19	42474386	42474386	19:g.42474386C>T	ClinGen:CA9467370	C1868681 128235 Dystonia 12;
NM_152296.5(ATP1A3):c.2493G>C (p.Thr831=)	478	ATP1A3	Likely benign	374157034	RCV000644931;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42474386	42474386	NC_000019.9:g.42474386C>G	ClinGen:CA9467369	C1868681 128235 Dystonia 12;
NM_152296.5(ATP1A3):c.2492C>T (p.Thr831Met)	478	ATP1A3	Uncertain significance	782674903	RCV002025922;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42474387	42474387	42474387	-
NM_152296.5(ATP1A3):c.2489G>A (p.Arg830Gln)	478	ATP1A3	Conflicting interpretations of pathogenicity	368371895	RCV000500150\|RCV000697449\|RCV003326445;	N	MedGen:CN169374\|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|MedGen:C3661900	19	42474390	42474390	NC_000019.9:g.42474390C>T	ClinGen:CA9467372	C1868681 128235 Dystonia 12;
NM_152296.5(ATP1A3):c.2488C>A (p.Arg830=)	478	ATP1A3	Likely benign	-1	RCV002588096;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42474391	42474391		-
NM_152296.5(ATP1A3):c.2487G>A (p.Pro829=)	478	ATP1A3	Benign	45606534	RCV000262098\|RCV000375463\|RCV000517496\|RCV001528401\|RCV002259860\|RCV002259861\|RCV002504111;	N	MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820, Orphanet:2131\|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0011038,MedGen:C1832466,OMIM:601338, Orphanet:1171\|MONDO:MONDO:0030473,MedGen:C556201	19	42474392	42474392	NC_000019.9:g.42474392C>T	ClinGen:CA9467374	C0338488 Alternating hemiplegia of childhood;
NM_152296.5(ATP1A3):c.2469G>A (p.Lys823=)	478	ATP1A3	Likely benign	782260220	RCV002143603;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42474410	42474410	42474410	-
NM_152296.5(ATP1A3):c.2457C>T (p.Ser819=)	478	ATP1A3	Likely benign	374697524	RCV001438169;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42474422	42474422	42474422	-
NM_152296.5(ATP1A3):c.2456G>A (p.Ser819Asn)	478	ATP1A3	Uncertain significance	2075088473	RCV001202181;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42474423	42474423	19:g.42474423C>T	-
NM_152296.5(ATP1A3):c.2452G>A (p.Glu818Lys)	478	ATP1A3	Pathogenic	587777771	RCV000144250\|RCV000190725\|RCV000195001\|RCV000234480\|RCV000314245;	N	MONDO:MONDO:0011038,MedGen:C1832466,OMIM:601338, Orphanet:1171\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820, Orphanet:2131\|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|MedGen:C3661900	19	42474427	42474427	NC_000019.9:g.42474427C>T	OMIM:182350.0014,ClinGen:CA204733,UniProtKB:P13637#VAR_070772	C3553788 614820 Alternating hemiplegia of childhood 2;
NM_152296.5(ATP1A3):c.2451C>T (p.Ala817=)	478	ATP1A3	Likely benign	148392240	RCV000972633;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42474428	42474428	19:g.42474428G>A	-
NM_152296.5(ATP1A3):c.2447C>G (p.Ala816Gly)	478	ATP1A3	Uncertain significance	-1	RCV002806153;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42474432	42474432	NC_000019.9:g.42474432G>C	-
NM_152296.5(ATP1A3):c.2445G>A (p.Glu815=)	478	ATP1A3	Likely benign	781915542	RCV001903430;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42474434	42474434	42474434	-
NM_152296.5(ATP1A3):c.2443G>A (p.Glu815Lys)	478	ATP1A3	Pathogenic	387907281	RCV000030750\|RCV000432504\|RCV000469482\|RCV000626997\|RCV000763433\|RCV001192636\|RCV001267254\|RCV001807744\|RCV002243675;	N	MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820, Orphanet:2131\|MedGen:C3661900\|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|Human Phenotype Ontology:HP:0002301,MONDO:MONDO:0001170,MedGen:C0018991; Human Phenotype Ontology:HP:0010553,MOND	19	42474436	42474436	19:g.42474436C>T	ClinGen:CA342903,UniProtKB:P13637#VAR_068947,OMIM:182350.0010	C3553788 614820 Alternating hemiplegia of childhood 2;
NM_152296.5(ATP1A3):c.2442C>T (p.Tyr814=)	478	ATP1A3	Likely benign	367659803	RCV000863419;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42474437	42474437	19:g.42474437G>A	-
NM_152296.5(ATP1A3):c.2439G>A (p.Ala813=)	478	ATP1A3	Benign/Likely benign	189555627	RCV000584931\|RCV000644939\|RCV001130250;	N	MedGen:C3661900\|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820, Orphanet:2131	19	42474440	42474440	19:g.42474440C>T	ClinGen:CA9467382	C1868681 128235 Dystonia 12;
NM_152296.5(ATP1A3):c.2431T>C (p.Ser811Pro)	478	ATP1A3	Pathogenic	387907282	RCV000030751\|RCV000541711;	N	MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820, Orphanet:2131\|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42474448	42474448	19:g.42474448A>G	ClinGen:CA342904,UniProtKB:P13637#VAR_068946,OMIM:182350.0011	C3553788 614820 Alternating hemiplegia of childhood 2;
NM_152296.5(ATP1A3):c.2419G>A (p.Val807Ile)	478	ATP1A3	Uncertain significance	-1	RCV002653743;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42474460	42474460	NC_000019.9:g.42474460C>T	-
NM_152296.5(ATP1A3):c.2419-6G>A	478	ATP1A3	Benign/Likely benign	180749411	RCV000762023\|RCV001086067;	N	MedGen:C3661900\|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42474466	42474466	NC_000019.9:g.42474466C>T	-
NM_152296.5(ATP1A3):c.2419-7C>T	478	ATP1A3	Benign/Likely benign	187436315	RCV000317333\|RCV000371857\|RCV001706530\|RCV002259863\|RCV002259862\|RCV002502272;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820, Orphanet:2131\|MedGen:C3661900\|MONDO:MONDO:0030473,MedGen:C5562018,OMIM:619606\|MONDO:MONDO:0011038,MedGen:C1832466,OMIM:601338, Orphanet:1171\|MO	19	42474467	42474467	NC_000019.9:g.42474467G>A	ClinGen:CA9467386	C0338488 Alternating hemiplegia of childhood;
NM_152296.5(ATP1A3):c.2419-14C>T	478	ATP1A3	Uncertain significance	2075089174	RCV001195901;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42474474	42474474	19:g.42474474G>A	-
NM_152296.5(ATP1A3):c.2419-14C>A	478	ATP1A3	Likely benign	2075089174	RCV002164160;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42474474	42474474	42474474	-
NM_152296.5(ATP1A3):c.2419-16G>A	478	ATP1A3	Likely benign	199926456	RCV002208825;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42474476	42474476	42474476	-
NM_152296.5(ATP1A3):c.2419-17C>T	478	ATP1A3	Benign	541464159	RCV002190442;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42474477	42474477	42474477	-
NM_152296.5(ATP1A3):c.2418+18C>T	478	ATP1A3	Likely benign	369674143	RCV002102738\|RCV002499921;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517; MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820, Orphanet:2131; MONDO:MONDO:0030473,MedGen:C5562018,OMIM:619606; MONDO:MONDO:00110	19	42474522	42474522	42474522	-
NM_152296.5(ATP1A3):c.2418+16C>T	478	ATP1A3	Likely benign	2145947877	RCV002168564;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42474524	42474524	42474524	-
NM_152296.5(ATP1A3):c.2418+13A>T	478	ATP1A3	Likely benign	-1	RCV002843642;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42474527	42474527	NC_000019.9:g.42474527T>A	-
NM_152296.5(ATP1A3):c.2418+9T>A	478	ATP1A3	Conflicting interpretations of pathogenicity	950336124	RCV001130252\|RCV001130251;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820, Orphanet:2131	19	42474531	42474531	19:g.42474531A>T	-
NM_152296.5(ATP1A3):c.2418+9T>G	478	ATP1A3	Likely benign	950336124	RCV002100316;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42474531	42474531	42474531	-
NM_152296.5(ATP1A3):c.2418+8C>T	478	ATP1A3	Likely benign	-1	RCV003078666;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42474532	42474532	NC_000019.9:g.42474532G>A	-
NM_152296.5(ATP1A3):c.2418+3G>A	478	ATP1A3	Uncertain significance	782778060	RCV000690165\|RCV002485633;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|MedGen:CN517202	19	42474537	42474537	NC_000019.9:g.42474537C>T	-	C1868681 128235 Dystonia 12;
NM_152296.5(ATP1A3):c.2417T>G (p.Met806Arg)	478	ATP1A3	Likely pathogenic	549006436	RCV000644929;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42474541	42474541	NC_000019.9:g.42474541A>C	ClinGen:CA346027,UniProtKB:P13637#VAR_068944	C3553788 614820 Alternating hemiplegia of childhood 2;
NM_152296.5(ATP1A3):c.2415C>G (p.Asp805Glu)	478	ATP1A3	Pathogenic	606231439	RCV001058556;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42474543	42474543	NC_000019.9:g.42474543G>C	ClinGen:CA346025	C3553788 614820 Alternating hemiplegia of childhood 2;
NM_152296.5(ATP1A3):c.2408G>A (p.Gly803Asp)	478	ATP1A3	Pathogenic	1555859571	RCV000525007;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42474550	42474550	NC_000019.9:g.42474550C>T	ClinGen:CA406039252	C1868681 128235 Dystonia 12;
NM_152296.5(ATP1A3):c.2407G>C (p.Gly803Arg)	478	ATP1A3	Likely pathogenic	2075090666	RCV001056665;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42474551	42474551	19:g.42474551C>G	-
NM_152296.5(ATP1A3):c.2406G>A (p.Leu802=)	478	ATP1A3	Likely benign	-1	RCV003028869;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42474552	42474552		-
NM_152296.5(ATP1A3):c.2403T>A (p.Asp801Glu)	478	ATP1A3	Uncertain significance	1568854338	RCV000706490;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42474555	42474555	19:g.42474555A>T	-	C1868681 128235 Dystonia 12;
NM_152296.5(ATP1A3):c.2401G>T (p.Asp801Tyr)	478	ATP1A3	Pathogenic	80356537	RCV000013777;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42474557	42474557	19:g.42474557C>A	ClinGen:CA341238,UniProtKB:P13637#VAR_026740,OMIM:182350.0006	C1868681 128235 Dystonia 12;
NM_152296.5(ATP1A3):c.2401G>A (p.Asp801Asn)	478	ATP1A3	Pathogenic	-1	RCV000030749\|RCV000413511\|RCV000515424\|RCV000624579\|RCV000644928\|RCV001004008\|RCV001265551\|RCV002281545;	N	MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820, Orphanet:2131\|MedGen:C3661900\|MONDO:MONDO:0011038,MedGen:C1832466,OMIM:601338, Orphanet:1171; MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517; MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820,Or	19	42474557	42474557	19:g.42474557C>T	ClinGen:CA342902,UniProtKB:P13637#VAR_068943,OMIM:182350.0009	C3553788 614820 Alternating hemiplegia of childhood 2;
NM_152296.5(ATP1A3):c.2400C>T (p.Ile800=)	478	ATP1A3	Likely benign	782552524	RCV001477472;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42474558	42474558	42474558	-
NM_152296.5(ATP1A3):c.2393T>C (p.Leu798Pro)	478	ATP1A3	Uncertain significance	1568854359	RCV000695197;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42474565	42474565	NC_000019.9:g.42474565A>G	-	C1868681 128235 Dystonia 12;
NM_152296.5(ATP1A3):c.2382C>T (p.Thr794=)	478	ATP1A3	Likely benign	-1	RCV003050918;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42474576	42474576		-
NM_152296.5(ATP1A3):c.2371C>T (p.Pro791Ser)	478	ATP1A3	Uncertain significance	1599706459	RCV000810640;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42474587	42474587	19:g.42474587G>A	-
NM_152296.5(ATP1A3):c.2367G>A (p.Pro789=)	478	ATP1A3	Benign/Likely benign	372737275	RCV000548999\|RCV001130964\|RCV002260000\|RCV002260001;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820, Orphanet:2131\|MONDO:MONDO:0011038,MedGen:C1832466,OMIM:601338, Orphanet:1171\|MONDO:MONDO:0030473,MedGen:C5562018,OMIM:619606	19	42474591	42474591	NC_000019.9:g.42474591C>T	ClinGen:CA9467411	C1868681 128235 Dystonia 12;
NM_152296.5(ATP1A3):c.2364C>T (p.Ile788=)	478	ATP1A3	Likely benign	1555859582	RCV002196871;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42474594	42474594	42474594	-
NM_152296.5(ATP1A3):c.2354T>A (p.Met785Lys)	478	ATP1A3	Uncertain significance	2075091235	RCV001209769;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42474604	42474604	19:g.42474604A>T	-
NM_152296.5(ATP1A3):c.2353A>G (p.Met785Val)	478	ATP1A3	Uncertain significance	-1	RCV003333661;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42474605	42474605		-
NM_152296.5(ATP1A3):c.2343G>T (p.Leu781=)	478	ATP1A3	Likely benign	1216939281	RCV002028302;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42474615	42474615	42474615	-
NM_152296.5(ATP1A3):c.2340C>T (p.Phe780=)	478	ATP1A3	Likely benign	1351846628	RCV002133379;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42474618	42474618	42474618	-
NM_152296.5(ATP1A3):c.2338T>C (p.Phe780Leu)	478	ATP1A3	Pathogenic	80356536	RCV000013776;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42474620	42474620	19:g.42474620A>G	ClinGen:CA341237,UniProtKB:P13637#VAR_026739,OMIM:182350.0005	C1868681 128235 Dystonia 12;
NM_152296.5(ATP1A3):c.2334G>A (p.Thr778=)	478	ATP1A3	Benign	145374789	RCV000296160\|RCV000350904\|RCV001707653\|RCV002259865\|RCV002259864;	N	MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820, Orphanet:2131\|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|MedGen:C3661900\|MONDO:MONDO:0030473,MedGen:C5562018,OMIM:619606\|MONDO:MONDO:0011038,MedGen:C1832466,OMIM:601338, Orphanet:1171	19	42474624	42474624	NC_000019.9:g.42474624C>T	ClinGen:CA9467412	C0338488 Alternating hemiplegia of childhood;
NM_152296.5(ATP1A3):c.2332A>C (p.Thr778Pro)	478	ATP1A3	Likely pathogenic	1599706511	RCV000995499;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42474626	42474626	19:g.42474626T>G	-
NM_152296.5(ATP1A3):c.2331C>T (p.Ile777=)	478	ATP1A3	Likely benign	782443507	RCV001480082;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42474627	42474627	42474627	-
NM_152296.5(ATP1A3):c.2325G>A (p.Pro775=)	478	ATP1A3	Likely benign	150943961	RCV000866954\|RCV001082399;	N	MedGen:C3661900\|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42474633	42474633	19:g.42474633C>T	-
NM_152296.5(ATP1A3):c.2325G>C (p.Pro775=)	478	ATP1A3	Likely benign	150943961	RCV001505824;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42474633	42474633	42474633	-
NM_152296.5(ATP1A3):c.2324C>T (p.Pro775Leu)	478	ATP1A3	Conflicting interpretations of pathogenicity	886041396	RCV000272828\|RCV001197881\|RCV001266079\|RCV003236579;	N	MedGen:C3661900\|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0030473,MedGen:C5562018,OMIM:619606	19	42474634	42474634	19:g.42474634G>A	ClinGen:CA10603656	CN517202 not provided;
NM_152296.5(ATP1A3):c.2319T>C (p.Asn773=)	478	ATP1A3	Benign	61733017	RCV000145248\|RCV000292498\|RCV000386733\|RCV001705942\|RCV002259701\|RCV002259702;	N	MedGen:CN169374\|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820, Orphanet:2131\|MedGen:C3661900\|MONDO:MONDO:0011038,MedGen:C1832466,OMIM:601338, Orphanet:1171\|MONDO:MONDO:0030473,MedGen:C556201	19	42474639	42474639	19:g.42474639A>G	ClinGen:CA171285	C0338488 Alternating hemiplegia of childhood;
NM_152296.5(ATP1A3):c.2318A>G (p.Asn773Ser)	478	ATP1A3	Pathogenic	606231437	RCV000148319\|RCV002510791\|RCV002514853;	N	MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820, Orphanet:2131\|MedGen:CN517202\|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42474640	42474640	NC_000019.9:g.42474640T>C	ClinGen:CA346021,UniProtKB:P13637#VAR_068942	C3553788 614820 Alternating hemiplegia of childhood 2;
NM_152296.5(ATP1A3):c.2315G>A (p.Ser772Asn)	478	ATP1A3	Pathogenic/Likely pathogenic	1064795234	RCV000482035\|RCV001210745;	N	MedGen:CN517202\|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42474643	42474643	19:g.42474643C>T	ClinGen:CA16620856	CN517202 not provided;
NM_152296.5(ATP1A3):c.2309T>G (p.Leu770Arg)	478	ATP1A3	Uncertain significance	-1	RCV003041373;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42474649	42474649	NC_000019.9:g.42474649A>C	-
NM_152296.5(ATP1A3):c.2307C>T (p.Thr769=)	478	ATP1A3	Conflicting interpretations of pathogenicity	886054473	RCV000347472\|RCV000402794;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820, Orphanet:2131	19	42474651	42474651	NC_000019.9:g.42474651G>A	ClinGen:CA10648759	C0338488 Alternating hemiplegia of childhood;
NM_152296.5(ATP1A3):c.2303A>G (p.Tyr768Cys)	478	ATP1A3	Likely pathogenic	1599706613	RCV000797584;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42474655	42474655	19:g.42474655T>C	-
NM_152296.5(ATP1A3):c.2280C>T (p.Asp760=)	478	ATP1A3	Likely benign	-1	RCV002891076;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42474678	42474678		-
NM_152296.5(ATP1A3):c.2277C>T (p.Phe759=)	478	ATP1A3	Likely benign	782305663	RCV000863992\|RCV001486060;	N	MedGen:C3661900\|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42474681	42474681	19:g.42474681G>A	-
NM_152296.5(ATP1A3):c.2273T>G (p.Ile758Ser)	478	ATP1A3	Likely pathogenic	80356535	RCV000013775\|RCV001781260;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|MedGen:CN517202	19	42474685	42474685	19:g.42474685A>C	ClinGen:CA341236,UniProtKB:P13637#VAR_026738,OMIM:182350.0004	C1868681 128235 Dystonia 12;
NM_152296.5(ATP1A3):c.2267G>A (p.Arg756His)	478	ATP1A3	Pathogenic/Likely pathogenic	606231435	RCV000148315\|RCV000489717\|RCV000578251\|RCV000624894\|RCV000791274\|RCV001731483\|RCV002272140;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|MedGen:C3661900\|MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820, Orphanet:2131\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0011038,MedGen:C1832466,OMIM:601338, Orphanet:1171\|MedGen:CN169374\|MONDO	19	42474691	42474691	NC_000019.9:g.42474691C>T	ClinGen:CA346014	C3553788 614820 Alternating hemiplegia of childhood 2;
NM_152296.5(ATP1A3):c.2267G>T (p.Arg756Leu)	478	ATP1A3	not provided	606231435	RCV002274491;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42474691	42474691	42474691	-
NM_152296.5(ATP1A3):c.2266C>T (p.Arg756Cys)	478	ATP1A3	Pathogenic/Likely pathogenic	1064797245	RCV000488196\|RCV000501825\|RCV000624914\|RCV000692668\|RCV000850500\|RCV003335375;	N	MedGen:CN517202\|MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820, Orphanet:2131\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517; MONDO:MONDO:0011038,	19	42474692	42474692	19:g.42474692G>A	ClinGen:CA16621741	C3553788 614820 Alternating hemiplegia of childhood 2;
NM_152296.5(ATP1A3):c.2265C>T (p.Gly755=)	478	ATP1A3	Likely benign	-1	RCV002717164;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42474693	42474693		-
NM_152296.5(ATP1A3):c.2264G>C (p.Gly755Ala)	478	ATP1A3	Pathogenic	606231434	RCV001381006;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42474694	42474694	NC_000019.9:g.42474694C>G	ClinGen:CA346010	C3553788 614820 Alternating hemiplegia of childhood 2;
NM_152296.5(ATP1A3):c.2264-8T>C	478	ATP1A3	Likely benign	-1	RCV002958027;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42474702	42474702	NC_000019.9:g.42474702A>G	-
NM_152296.5(ATP1A3):c.2264-16C>T	478	ATP1A3	Benign	149116776	RCV001519461\|RCV001579571\|RCV001726578;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|MedGen:CN169374\|MedGen:C3661900	19	42474710	42474710	42474710	-
NM_152296.5(ATP1A3):c.2264-20T>A	478	ATP1A3	Likely benign	-1	RCV002630853;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42474714	42474714	NC_000019.9:g.42474714A>T	-
NC_000019.9:g.(?_42479761)_(42492734_?)del	478	ATP1A3	Pathogenic	-1	RCV003113683;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42479761	42492734		-
NM_152296.5(ATP1A3):c.2263+10C>A	478	ATP1A3	Likely benign	1339140939	RCV001392123;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42479771	42479771	42479771	-
NM_152296.5(ATP1A3):c.2263+9G>A	478	ATP1A3	Likely benign	372897787	RCV002209582;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42479772	42479772	42479772	-
NM_152296.5(ATP1A3):c.2263+8G>A	478	ATP1A3	Likely benign	1568858162	RCV001398521;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42479773	42479773	42479773	-
NM_152296.5(ATP1A3):c.2263G>T (p.Gly755Cys)	478	ATP1A3	Pathogenic	557052809	RCV000816262\|RCV001091181;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|MedGen:C3661900	19	42479781	42479781	NC_000019.9:g.42479781C>A	ClinGen:CA346013	C3553788 614820 Alternating hemiplegia of childhood 2;
NM_152296.5(ATP1A3):c.2263G>A (p.Gly755Ser)	478	ATP1A3	Pathogenic	557052809	RCV003041374;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42479781	42479781	NC_000019.9:g.42479781C>T	-
NM_152296.5(ATP1A3):c.2258A>G (p.Glu753Gly)	478	ATP1A3	Uncertain significance	-1	RCV002943005;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42479786	42479786	NC_000019.9:g.42479786T>C	-
NM_152296.5(ATP1A3):c.2256G>A (p.Val752=)	478	ATP1A3	Likely benign	2075157702	RCV001460404;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42479788	42479788	42479788	-
NM_152296.5(ATP1A3):c.2252G>A (p.Gly751Glu)	478	ATP1A3	Likely pathogenic	1599712456	RCV000990221;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42479792	42479792	19:g.42479792C>T	-
NM_152296.5(ATP1A3):c.2251G>A (p.Gly751Arg)	478	ATP1A3	Uncertain significance	1599712463	RCV000799750;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42479793	42479793	19:g.42479793C>T	-
NM_152296.5(ATP1A3):c.2245G>A (p.Val749Ile)	478	ATP1A3	Uncertain significance	2075157919	RCV001037687\|RCV002551394;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|MeSH:D030342,MedGen:C0950123	19	42479799	42479799	19:g.42479799C>T	-
NM_152296.5(ATP1A3):c.2244C>T (p.Ile748=)	478	ATP1A3	Likely benign	143307687	RCV000931897;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42479800	42479800	19:g.42479800G>A	-
NM_152296.5(ATP1A3):c.2244C>A (p.Ile748=)	478	ATP1A3	Likely benign	-1	RCV002862112;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42479800	42479800		-
NM_152296.5(ATP1A3):c.2232C>A (p.Asn744Lys)	478	ATP1A3	Uncertain significance	-1	RCV002756830;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42479812	42479812	NC_000019.9:g.42479812G>T	-
NM_152296.5(ATP1A3):c.2224GAC[1] (p.Asp743del)	478	ATP1A3	Pathogenic	-1	RCV003074994;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42479815	42479817	NC_000019.9:g.42479815GTC[1]	-
NM_152296.5(ATP1A3):c.2227G>A (p.Asp743Asn)	478	ATP1A3	Uncertain significance	1555860790	RCV000688009;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42479817	42479817	NC_000019.9:g.42479817C>T	-	C1868681 128235 Dystonia 12;
NM_152296.5(ATP1A3):c.2227G>T (p.Asp743Tyr)	478	ATP1A3	Uncertain significance	-1	RCV002301768;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42479817	42479817	42479817	-
NM_152296.5(ATP1A3):c.2226C>T (p.Asp742=)	478	ATP1A3	Benign/Likely benign	146600566	RCV000863994\|RCV001087698\|RCV002260081\|RCV002260083\|RCV002260082;	N	MedGen:C3661900\|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820, Orphanet:2131\|MONDO:MONDO:0030473,MedGen:C5562018,OMIM:619606\|MONDO:MONDO:0011038,MedGen:C1832466,OMIM:601338, Orphanet:1171	19	42479818	42479818	19:g.42479818G>A	-
NM_152296.5(ATP1A3):c.2225A>T (p.Asp742Val)	478	ATP1A3	Pathogenic	2145959393	RCV002249285;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42479819	42479819	42479819	-
NM_152296.5(ATP1A3):c.2221C>T (p.Leu741=)	478	ATP1A3	Likely benign	1302739794	RCV001413983;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42479823	42479823	42479823	-
NM_152296.5(ATP1A3):c.2208T>C (p.Ala736=)	478	ATP1A3	Likely benign	1599712506	RCV000981585;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42479836	42479836	19:g.42479836A>G	-
NM_152296.5(ATP1A3):c.2205A>G (p.Ala735=)	478	ATP1A3	Likely benign	-1	RCV003044383;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42479839	42479839		-
NM_152296.5(ATP1A3):c.2203G>A (p.Ala735Thr)	478	ATP1A3	Uncertain significance	2075158274	RCV001060417\|RCV001570603;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|MedGen:CN517202	19	42479841	42479841	19:g.42479841C>T	-
NM_152296.5(ATP1A3):c.2195C>A (p.Ser732Tyr)	478	ATP1A3	Likely pathogenic	1599712523	RCV000990222;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42479849	42479849	19:g.42479849G>T	-
NM_152296.5(ATP1A3):c.2191G>A (p.Val731Ile)	478	ATP1A3	Conflicting interpretations of pathogenicity	1131691813	RCV000493277\|RCV001234039;	N	MedGen:CN517202\|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42479853	42479853	19:g.42479853C>T	ClinGen:CA406041894	CN517202 not provided;
NM_152296.5(ATP1A3):c.2190C>T (p.Asp730=)	478	ATP1A3	Likely benign	202060210	RCV000874089;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42479854	42479854	19:g.42479854G>A	-
NM_152296.5(ATP1A3):c.2178C>T (p.Ile726=)	478	ATP1A3	Likely benign	782806766	RCV001415241;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42479866	42479866	19:g.42479866G>A	-
NM_152296.5(ATP1A3):c.2171T>C (p.Met724Thr)	478	ATP1A3	Uncertain significance	1329568831	RCV001202412;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42479873	42479873	19:g.42479873A>G	-
NM_152296.5(ATP1A3):c.2154C>T (p.Ala718=)	478	ATP1A3	Likely benign	782463652	RCV001453698\|RCV003426107;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|MedGen:C3661900	19	42479890	42479890	42479890	-
NM_152296.5(ATP1A3):c.2153C>A (p.Ala718Asp)	478	ATP1A3	Uncertain significance	2075158829	RCV001294683;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42479891	42479891	42479891	-
NM_152296.5(ATP1A3):c.2144T>C (p.Leu715Pro)	478	ATP1A3	Conflicting interpretations of pathogenicity	2075159021	RCV001342673\|RCV002510592;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|MONDO:MONDO:0030473,MedGen:C5562018,OMIM:619606	19	42479900	42479900	42479900	-
NM_152296.5(ATP1A3):c.2139C>G (p.Pro713=)	478	ATP1A3	Conflicting interpretations of pathogenicity	141362710	RCV000288675\|RCV000343601;	N	MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820, Orphanet:2131\|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42479905	42479905	NC_000019.9:g.42479905G>C	ClinGen:CA9467454	C0338488 Alternating hemiplegia of childhood;
NM_152296.5(ATP1A3):c.2139C>T (p.Pro713=)	478	ATP1A3	Likely benign	141362710	RCV002110083;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42479905	42479905	42479905	-
NM_152296.5(ATP1A3):c.2136C>T (p.Ser712=)	478	ATP1A3	Uncertain significance	2075159123	RCV001133919\|RCV001133918;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820, Orphanet:2131	19	42479908	42479908	19:g.42479908G>A	-
NM_152296.5(ATP1A3):c.2131G>A (p.Asp711Asn)	478	ATP1A3	Uncertain significance	-1	RCV002825178;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42479913	42479913	NC_000019.9:g.42479913C>T	-
NM_152296.5(ATP1A3):c.2130C>T (p.Asn710=)	478	ATP1A3	Likely benign	1394454178	RCV001472834;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42479914	42479914	42479914	-
NM_152296.5(ATP1A3):c.2128A>C (p.Asn710His)	478	ATP1A3	Uncertain significance	-1	RCV003152860;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42479916	42479916		-
NM_152296.5(ATP1A3):c.2122G>A (p.Gly708Ser)	478	ATP1A3	Uncertain significance	782288524	RCV000460443;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42479922	42479922	NC_000019.9:g.42479922C>T	ClinGen:CA16616282	C1868681 128235 Dystonia 12;
NM_152296.5(ATP1A3):c.2116G>A (p.Gly706Arg)	478	ATP1A3	Conflicting interpretations of pathogenicity	782175860	RCV000413243\|RCV000853257\|RCV001387923\|RCV002510573;	N	MedGen:CN517202\|MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820, Orphanet:2131\|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|MONDO:MONDO:0011038,MedGen:C1832466,OMIM:601338, Orphanet:1171	19	42479928	42479928	19:g.42479928C>T	ClinGen:CA9467460	CN517202 not provided;
NM_152296.5(ATP1A3):c.2116G>C (p.Gly706Arg)	478	ATP1A3	Pathogenic	-1	RCV002601844;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42479928	42479928	NC_000019.9:g.42479928C>G	-
NM_152296.5(ATP1A3):c.2115C>T (p.Thr705=)	478	ATP1A3	Likely benign	371962113	RCV000644933;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42479929	42479929	NC_000019.9:g.42479929G>A	ClinGen:CA9467461	C1868681 128235 Dystonia 12;
NM_152296.5(ATP1A3):c.2100A>G (p.Ala700=)	478	ATP1A3	Likely benign	-1	RCV003036238;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42479944	42479944		-
NM_152296.5(ATP1A3):c.2096G>A (p.Gly699Asp)	478	ATP1A3	Uncertain significance	2075159832	RCV001320029;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42479948	42479948	42479948	-
NM_152296.5(ATP1A3):c.2095-1G>A	478	ATP1A3	Likely pathogenic	2145959709	RCV002044429;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42479950	42479950	42479950	-
NM_152296.5(ATP1A3):c.2095-3C>T	478	ATP1A3	Uncertain significance	782736392	RCV001060719\|RCV003321794;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|MedGen:CN517202	19	42479952	42479952	19:g.42479952G>A	-
NM_152296.5(ATP1A3):c.2095-5_2095-4insCCCTTACCCTGCA	478	ATP1A3	Likely benign	782804502	RCV000798578\|RCV001592982;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|MedGen:CN517202	19	42479953	42479954	19:g.42479953_42479954insAGGGTGCAGGGTA	-
NM_152296.5(ATP1A3):c.2095-4C>T	478	ATP1A3	Likely benign	-1	RCV002966959;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42479953	42479953	NC_000019.9:g.42479953G>A	-
NM_152296.5(ATP1A3):c.2095-6C>T	478	ATP1A3	Likely benign	1555860861	RCV001399760;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42479955	42479955	42479955	-
NM_152296.5(ATP1A3):c.2095-7C>T	478	ATP1A3	Likely benign	1599712675	RCV001434453;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42479956	42479956	19:g.42479956G>A	-
NM_152296.5(ATP1A3):c.2095-10C>T	478	ATP1A3	Benign	201423892	RCV001515765;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42479959	42479959	19:g.42479959G>A	-
NM_152296.5(ATP1A3):c.2095-12C>G	478	ATP1A3	Likely benign	781875807	RCV002143428;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42479961	42479961	42479961	-
NM_152296.5(ATP1A3):c.2095-17A>C	478	ATP1A3	Likely benign	-1	RCV002943804;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42479966	42479966	NC_000019.9:g.42479966T>G	-
NM_152296.5(ATP1A3):c.2094+15C>T	478	ATP1A3	Likely benign	782378908	RCV002141263;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42480553	42480553	42480553	-
NM_152296.5(ATP1A3):c.2094+15C>G	478	ATP1A3	Likely benign	-1	RCV003077432;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42480553	42480553	NC_000019.9:g.42480553G>C	-
NM_152296.5(ATP1A3):c.2094+11C>A	478	ATP1A3	Likely benign	-1	RCV003053143;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42480557	42480557	NC_000019.9:g.42480557G>T	-
NM_152296.5(ATP1A3):c.2094+10G>A	478	ATP1A3	Likely benign	-1	RCV003073862;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42480558	42480558	NC_000019.9:g.42480558C>T	-
NM_152296.5(ATP1A3):c.2094+10G>T	478	ATP1A3	Likely benign	-1	RCV002600719;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42480558	42480558	NC_000019.9:g.42480558C>A	-
NM_152296.5(ATP1A3):c.2094+9C>T	478	ATP1A3	Likely benign	369771087	RCV002190081;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42480559	42480559	42480559	-
NM_152296.5(ATP1A3):c.2094+2_2094+3del	478	ATP1A3	Likely pathogenic	-1	RCV002899175;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42480565	42480566	NC_000019.9:g.42480566_42480567del	-
NM_152296.5(ATP1A3):c.2094G>A (p.Gln698=)	478	ATP1A3	Uncertain significance	782060744	RCV001295680;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42480568	42480568	42480568	-
NM_152296.5(ATP1A3):c.2052C>T (p.Ser684=)	478	ATP1A3	Likely benign	1461401586	RCV001475922;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42480610	42480610	42480610	-
NM_152296.5(ATP1A3):c.2051C>T (p.Ser684Phe)	478	ATP1A3	Likely pathogenic	397515577	RCV000055992;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42480611	42480611	19:g.42480611G>A	ClinGen:CA345082	C1868681 128235 Dystonia 12;
NM_152296.5(ATP1A3):c.2051C>A (p.Ser684Tyr)	478	ATP1A3	Likely pathogenic	-1	RCV003039836;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42480611	42480611	NC_000019.9:g.42480611G>T	-
NM_152296.5(ATP1A3):c.2040C>T (p.Phe680=)	478	ATP1A3	Likely benign	372836589	RCV000644938;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42480622	42480622	19:g.42480622G>A	ClinGen:CA9467496	C1868681 128235 Dystonia 12;
NM_152296.5(ATP1A3):c.2035G>A (p.Val679Ile)	478	ATP1A3	Uncertain significance	781854249	RCV001211498;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42480627	42480627	19:g.42480627C>T	-
NM_152296.5(ATP1A3):c.2035G>T (p.Val679Phe)	478	ATP1A3	Uncertain significance	781854249	RCV001959607;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42480627	42480627	42480627	-
NM_152296.5(ATP1A3):c.2034C>T (p.Ile678=)	478	ATP1A3	Likely benign	2145961533	RCV002208097;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42480628	42480628	42480628	-
NM_152296.5(ATP1A3):c.2028C>T (p.Thr676=)	478	ATP1A3	Likely benign	782556831	RCV001402756;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42480634	42480634	42480634	-
NM_152296.5(ATP1A3):c.2027C>T (p.Thr676Ile)	478	ATP1A3	Uncertain significance	-1	RCV002837907;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42480635	42480635	NC_000019.9:g.42480635G>A	-
NM_152296.5(ATP1A3):c.2025C>T (p.His675=)	478	ATP1A3	Likely benign	1394039204	RCV001491043;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42480637	42480637	42480637	-
NM_152296.5(ATP1A3):c.2019G>A (p.Gln673=)	478	ATP1A3	Likely benign	-1	RCV002943010;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42480643	42480643		-
NM_152296.5(ATP1A3):c.2016G>A (p.Leu672=)	478	ATP1A3	Likely benign	2145961560	RCV002072736;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42480646	42480646	42480646	-
NM_152296.5(ATP1A3):c.2009A>G (p.Glu670Gly)	478	ATP1A3	Uncertain significance	2075172328	RCV001133921\|RCV001133920;	N	MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820, Orphanet:2131\|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42480653	42480653	19:g.42480653T>C	-
NM_152296.5(ATP1A3):c.2007C>T (p.Asp669=)	478	ATP1A3	Likely benign	782626986	RCV002092950;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42480655	42480655	42480655	-
NM_152296.5(ATP1A3):c.2004C>T (p.Ile668=)	478	ATP1A3	Likely benign	782209649	RCV000862770\|RCV003424384;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|MedGen:C3661900	19	42480658	42480658	19:g.42480658G>A	-
NM_152296.5(ATP1A3):c.1995C>T (p.Ser665=)	478	ATP1A3	Likely benign	374107131	RCV000901920;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42480667	42480667	19:g.42480667G>A	-
NM_152296.5(ATP1A3):c.1980C>G (p.Leu660=)	478	ATP1A3	Likely benign	1281745816	RCV001422069;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42480682	42480682	42480682	-
NM_152296.5(ATP1A3):c.1975G>T (p.Asp659Tyr)	478	ATP1A3	Uncertain significance	375193034	RCV001205707;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42480687	42480687	19:g.42480687C>A	-
NM_152296.5(ATP1A3):c.1974C>T (p.Thr658=)	478	ATP1A3	Benign	145869619	RCV000865926\|RCV001133922\|RCV002260093\|RCV002260094;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820, Orphanet:2131\|MONDO:MONDO:0011038,MedGen:C1832466,OMIM:601338, Orphanet:1171\|MONDO:MONDO:0030473,MedGen:C5562018,OMIM:619606	19	42480688	42480688	19:g.42480688G>A	-
NM_152296.5(ATP1A3):c.1973C>T (p.Thr658Ile)	478	ATP1A3	Uncertain significance	1241113172	RCV001053357;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42480689	42480689	19:g.42480689G>A	-
NM_152296.5(ATP1A3):c.1971C>A (p.Gly657=)	478	ATP1A3	Likely benign	-1	RCV002635049;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42480691	42480691		-
NM_152296.5(ATP1A3):c.1968C>T (p.His656=)	478	ATP1A3	Likely benign	142297106	RCV000644942\|RCV001592797;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|MedGen:C3661900	19	42480694	42480694	19:g.42480694G>A	ClinGen:CA9467512	C1868681 128235 Dystonia 12;
NM_152296.5(ATP1A3):c.1959C>T (p.Cys653=)	478	ATP1A3	Likely benign	782105093	RCV001490892;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42480703	42480703	42480703	-
NM_152296.5(ATP1A3):c.1959C>A (p.Cys653Ter)	478	ATP1A3	Pathogenic	782105093	RCV001984662;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42480703	42480703	42480703	-
NM_152296.5(ATP1A3):c.1954G>C (p.Ala652Pro)	478	ATP1A3	Uncertain significance	2075173086	RCV002021772;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42480708	42480708	42480708	-
NM_152296.5(ATP1A3):c.1947T>C (p.Asp649=)	478	ATP1A3	Likely benign	-1	RCV003040155;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42480715	42480715		-
NM_152296.5(ATP1A3):c.1944-16T>A	478	ATP1A3	Uncertain significance	-1	RCV002842837;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42480734	42480734	NC_000019.9:g.42480734A>T	-
NM_152296.5(ATP1A3):c.1944-19C>A	478	ATP1A3	Likely benign	1555861379	RCV002074930;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42480737	42480737	42480737	-
NM_152296.5(ATP1A3):c.1944-19C>T	478	ATP1A3	Likely benign	-1	RCV003088894;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42480737	42480737	NC_000019.9:g.42480737G>A	-
NM_152296.5(ATP1A3):c.1944-20G>T	478	ATP1A3	Benign	200665663	RCV001640846\|RCV002072969\|RCV002260238\|RCV002260236\|RCV002260237;	N	MedGen:C3661900\|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|MONDO:MONDO:0030473,MedGen:C5562018,OMIM:619606\|MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820, Orphanet:2131\|MONDO:MONDO:0011038,MedGen:C1832466,OMIM:601338, Orphanet:1171	19	42480738	42480738	42480738	-
NM_152296.5(ATP1A3):c.1943+12A>T	478	ATP1A3	Benign/Likely benign	201197776	RCV000304144\|RCV000403835\|RCV001529042\|RCV002259867\|RCV002259866;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820, Orphanet:2131\|MedGen:C3661900\|MONDO:MONDO:0030473,MedGen:C5562018,OMIM:619606\|MONDO:MONDO:0011038,MedGen:C1832466,OMIM:601338, Orphanet:1171	19	42482076	42482076	NC_000019.9:g.42482076T>A	ClinGen:CA9467533	C0338488 Alternating hemiplegia of childhood;
NC_000019.9:g.(?_42482078)_(42498228_?)dup	478	ATP1A3	Uncertain significance	-1	RCV003113686;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42482078	42498228		-
NM_152296.5(ATP1A3):c.1943+7C>T	478	ATP1A3	Likely benign	2145964292	RCV002107268;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42482081	42482081	42482081	-
NM_152296.5(ATP1A3):c.1931A>T (p.Gln644Leu)	478	ATP1A3	Uncertain significance	1060500992	RCV000473921;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42482100	42482100	NC_000019.9:g.42482100T>A	ClinGen:CA16616279	C1868681 128235 Dystonia 12;
NM_152296.5(ATP1A3):c.1930C>G (p.Gln644Glu)	478	ATP1A3	Uncertain significance	1555861946	RCV000497504\|RCV001342721;	N	MedGen:CN517202\|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42482101	42482101	19:g.42482101G>C	ClinGen:CA406044835	CN169374 not specified;
NM_152296.5(ATP1A3):c.1930C>T (p.Gln644Ter)	478	ATP1A3	Pathogenic	1555861946	RCV001214555;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42482101	42482101	19:g.42482101G>A	-
NM_152296.5(ATP1A3):c.1928G>A (p.Ser643Asn)	478	ATP1A3	Uncertain significance	2145964356	RCV001881113;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42482103	42482103	42482103	-
NM_152296.5(ATP1A3):c.1928G>C (p.Ser643Thr)	478	ATP1A3	Uncertain significance	-1	RCV002823831;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42482103	42482103	NC_000019.9:g.42482103C>G	-
NM_152296.5(ATP1A3):c.1924G>A (p.Val642Ile)	478	ATP1A3	Conflicting interpretations of pathogenicity	201391210	RCV000358956\|RCV000395872\|RCV003409523;	N	MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820, Orphanet:2131\|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|	19	42482107	42482107	NC_000019.9:g.42482107C>T	ClinGen:CA9467537	C0338488 Alternating hemiplegia of childhood;
NM_152296.5(ATP1A3):c.1923C>G (p.Pro641=)	478	ATP1A3	Likely benign	370996990	RCV001414108;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42482108	42482108	42482108	-
NM_152296.5(ATP1A3):c.1923C>T (p.Pro641=)	478	ATP1A3	Likely benign	370996990	RCV001486146;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42482108	42482108	42482108	-
NM_152296.5(ATP1A3):c.1917C>T (p.Asn639=)	478	ATP1A3	Likely benign	2145964395	RCV001470391;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42482114	42482114	42482114	-
NM_152296.5(ATP1A3):c.1910G>A (p.Arg637Gln)	478	ATP1A3	Uncertain significance	1555861967	RCV000644923\|RCV002223238;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|MedGen:CN517202	19	42482121	42482121	NC_000019.9:g.42482121C>T	ClinGen:CA406044922	C1868681 128235 Dystonia 12;
NM_152296.5(ATP1A3):c.1906G>A (p.Ala636Thr)	478	ATP1A3	Conflicting interpretations of pathogenicity	782744167	RCV001972146\|RCV002561520\|RCV002266066;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517; MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820, Orphanet:2131; MONDO:MONDO:0011038,MedGen:C1832466,	19	42482125	42482125	42482125	-
NM_152296.5(ATP1A3):c.1905C>T (p.Ala635=)	478	ATP1A3	Benign/Likely benign	781822752	RCV000300607\|RCV000354978\|RCV002259868\|RCV002259869;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820, Orphanet:2131\|MONDO:MONDO:0011038,MedGen:C1832466,OMIM:601338, Orphanet:1171\|MONDO:MONDO:0030473,MedGen:C5562018,OMIM:619606	19	42482126	42482126	NC_000019.9:g.42482126G>A	ClinGen:CA9467542	C0338488 Alternating hemiplegia of childhood;
NM_152296.5(ATP1A3):c.1884C>T (p.Asn628=)	478	ATP1A3	Likely benign	144130986	RCV001417025;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42482147	42482147	19:g.42482147G>A	-
NM_152296.5(ATP1A3):c.1884C>A (p.Asn628Lys)	478	ATP1A3	Uncertain significance	144130986	RCV001314047;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42482147	42482147	42482147	-
NM_152296.5(ATP1A3):c.1872C>T (p.Ile624=)	478	ATP1A3	Likely benign	1599715179	RCV001407458;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42482159	42482159	19:g.42482159G>A	-
NM_152296.5(ATP1A3):c.1853C>T (p.Ala618Val)	478	ATP1A3	Uncertain significance	-1	RCV002825688;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42482178	42482178	NC_000019.9:g.42482178G>A	-
NM_152296.5(ATP1A3):c.1839G>C (p.Thr613=)	478	ATP1A3	Likely benign	376852509	RCV001495368\|RCV002489268;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820, Orphanet:2131; MONDO:MONDO:0030473,MedGen:C5562018,OMIM:619606; MONDO:MONDO:0011038,MedGen:C1832466,OMIM:601338, Orphanet:1171; MONDO:MONDO:000749	19	42482192	42482192	19:g.42482192C>G	-
NM_152296.5(ATP1A3):c.1839G>A (p.Thr613=)	478	ATP1A3	Conflicting interpretations of pathogenicity	376852509	RCV001314685\|RCV003222303;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|MedGen:C3661900	19	42482192	42482192	42482192	-
NM_152296.5(ATP1A3):c.1838C>T (p.Thr613Met)	478	ATP1A3	Pathogenic	-1	RCV000013772\|RCV000726724\|RCV001004717;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|MedGen:C3661900\|MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820, Orphanet:2131	19	42482193	42482193	19:g.42482193G>A	ClinGen:CA341233,UniProtKB:P13637#VAR_026737,OMIM:182350.0001	C1868681 128235 Dystonia 12;
NM_152296.5(ATP1A3):c.1825G>A (p.Asp609Asn)	478	ATP1A3	Uncertain significance	2075190697	RCV001321417\|RCV002224061;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|MedGen:CN517202	19	42482206	42482206	42482206	-
NM_152296.5(ATP1A3):c.1824C>T (p.Gly608=)	478	ATP1A3	Likely benign	782288263	RCV000824383;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42482207	42482207	19:g.42482207G>A	-
NM_152296.5(ATP1A3):c.1821C>T (p.Thr607=)	478	ATP1A3	Likely benign	782381694	RCV000875881\|RCV003311908;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|MedGen:C3661900	19	42482210	42482210	19:g.42482210G>A	-
NM_152296.5(ATP1A3):c.1820C>T (p.Thr607Ile)	478	ATP1A3	Uncertain significance	2145964580	RCV001963424;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42482211	42482211	42482211	-
NM_152296.5(ATP1A3):c.1807-5T>C	478	ATP1A3	Likely benign	2145964609	RCV002220831;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42482229	42482229	42482229	-
NM_152296.5(ATP1A3):c.1807-14A>C	478	ATP1A3	Likely benign	1477588682	RCV001970433;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42482238	42482238	42482238	-
NM_152296.5(ATP1A3):c.1807-14A>T	478	ATP1A3	Likely benign	-1	RCV002829690;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42482238	42482238	NC_000019.9:g.42482238T>A	-
NM_152296.5(ATP1A3):c.1807-19T>C	478	ATP1A3	Likely benign	782302598	RCV002081572;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42482243	42482243	42482243	-
NM_152296.5(ATP1A3):c.1806+14T>C	478	ATP1A3	Likely benign	377372631	RCV000260129\|RCV000334033;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820, Orphanet:2131	19	42482289	42482289	NC_000019.9:g.42482289A>G	ClinGen:CA9467567	C0338488 Alternating hemiplegia of childhood;
NM_152296.5(ATP1A3):c.1806+12G>C	478	ATP1A3	Uncertain significance	1555862070	RCV001130373\|RCV001130374;	N	MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820, Orphanet:2131\|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42482291	42482291	19:g.42482291C>G	-
NM_152296.5(ATP1A3):c.1806+12G>A	478	ATP1A3	Likely benign	1555862070	RCV002100432;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42482291	42482291	42482291	-
NM_152296.5(ATP1A3):c.1806+10G>A	478	ATP1A3	Likely benign	782300402	RCV000644932;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42482293	42482293	NC_000019.9:g.42482293C>T	ClinGen:CA9467568	C1868681 128235 Dystonia 12;
NM_152296.5(ATP1A3):c.1801A>T (p.Ile601Phe)	478	ATP1A3	Uncertain significance	1599715325	RCV000799542;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42482308	42482308	19:g.42482308T>A	-
NM_152296.5(ATP1A3):c.1795G>A (p.Ala599Thr)	478	ATP1A3	Uncertain significance	1057519113	RCV000416116\|RCV002304205;	N	MedGen:C3661900\|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42482314	42482314	19:g.42482314C>T	ClinGen:CA16043749	CN517202 not provided;
NM_152296.5(ATP1A3):c.1794C>T (p.Ser598=)	478	ATP1A3	Likely benign	782409824	RCV000972169;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42482315	42482315	19:g.42482315G>A	-
NM_152296.5(ATP1A3):c.1784_1792del (p.Lys595_Arg597del)	478	ATP1A3	Pathogenic	-1	RCV002871611;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42482317	42482325	NC_000019.9:g.42482320_42482328del	-
NM_152296.5(ATP1A3):c.1790G>A (p.Arg597His)	478	ATP1A3	Likely pathogenic	1599715341	RCV000813878;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42482319	42482319	19:g.42482319C>T	-
NM_152296.5(ATP1A3):c.1789C>T (p.Arg597Cys)	478	ATP1A3	Uncertain significance	2075192084	RCV001209645;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42482320	42482320	19:g.42482320G>A	-
NM_152296.5(ATP1A3):c.1776G>A (p.Ala592=)	478	ATP1A3	Benign	2288507	RCV000863021\|RCV001655618\|RCV002260077\|RCV002260078\|RCV002260076;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|MedGen:C3661900\|MONDO:MONDO:0011038,MedGen:C1832466,OMIM:601338, Orphanet:1171\|MONDO:MONDO:0030473,MedGen:C5562018,OMIM:619606\|MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820, Orphanet:2131	19	42482333	42482333	19:g.42482333C>T	-
NM_152296.5(ATP1A3):c.1775C>A (p.Ala592Glu)	478	ATP1A3	Uncertain significance	1599715351	RCV000811712;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42482334	42482334	19:g.42482334G>T	-
NM_152296.5(ATP1A3):c.1775C>T (p.Ala592Val)	478	ATP1A3	Uncertain significance	1599715351	RCV001340164\|RCV003329403;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|MedGen:CN517202	19	42482334	42482334	42482334	-
NM_152296.5(ATP1A3):c.1773C>T (p.Asp591=)	478	ATP1A3	Likely benign	782220233	RCV002065928;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42482336	42482336	19:g.42482336G>A	-
NM_152296.5(ATP1A3):c.1758G>C (p.Arg586=)	478	ATP1A3	Likely benign	977103188	RCV001413423;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42482351	42482351	42482351	-
NM_152296.5(ATP1A3):c.1755C>G (p.Pro585=)	478	ATP1A3	Likely benign	-1	RCV002899203;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42482354	42482354		-
NM_152296.5(ATP1A3):c.1747G>A (p.Asp583Asn)	478	ATP1A3	Uncertain significance	2145964907	RCV001942840;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42482362	42482362	42482362	-
NM_152296.5(ATP1A3):c.1746C>T (p.Ile582=)	478	ATP1A3	Likely benign	781992944	RCV002192384;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42482363	42482363	42482363	-
NM_152296.5(ATP1A3):c.1728G>A (p.Val576=)	478	ATP1A3	Uncertain significance	370436157	RCV001301699;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42482381	42482381	42482381	-
NM_152296.5(ATP1A3):c.1719C>A (p.Leu573=)	478	ATP1A3	Uncertain significance	886054474	RCV000275215\|RCV000370082;	N	MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820, Orphanet:2131\|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42482390	42482390	NC_000019.9:g.42482390G>T	ClinGen:CA10652045	C0338488 Alternating hemiplegia of childhood;
NM_152296.5(ATP1A3):c.1716C>G (p.Asn572Lys)	478	ATP1A3	Uncertain significance	782017635	RCV001295176;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42482393	42482393	42482393	-
NM_152296.5(ATP1A3):c.1714A>G (p.Asn572Asp)	478	ATP1A3	Likely benign	782415633	RCV000330241\|RCV000384761;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820, Orphanet:2131	19	42482395	42482395	NC_000019.9:g.42482395T>C	ClinGen:CA9467577	C0338488 Alternating hemiplegia of childhood;
NM_152296.5(ATP1A3):c.1710G>A (p.Thr570=)	478	ATP1A3	Uncertain significance	781840505	RCV000692129;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42482399	42482399	19:g.42482399C>T	-	C1868681 128235 Dystonia 12;
NM_152296.5(ATP1A3):c.1707C>A (p.Thr569=)	478	ATP1A3	Likely benign	782081809	RCV002168709;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42482402	42482402	42482402	-
NM_152296.5(ATP1A3):c.1705A>G (p.Thr569Ala)	478	ATP1A3	Uncertain significance	1555862136	RCV000802909;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42482404	42482404	19:g.42482404T>C	-
NM_152296.5(ATP1A3):c.1698G>A (p.Val566=)	478	ATP1A3	Likely benign	2075193265	RCV001396500;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42482411	42482411	42482411	-
NM_152296.5(ATP1A3):c.1695C>T (p.Asp565=)	478	ATP1A3	Benign/Likely benign	375255226	RCV000290405\|RCV000327163\|RCV000710700\|RCV002259870\|RCV002259871;	N	MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820, Orphanet:2131\|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|MedGen:C3661900\|MONDO:MONDO:0011038,MedGen:C1832466,OMIM:601338, Orphanet:1171\|MONDO:MONDO:0030473,MedGen:C5562018,OMIM:619606	19	42482414	42482414	NC_000019.9:g.42482414G>A	ClinGen:CA9467581	C0338488 Alternating hemiplegia of childhood;
NM_152296.5(ATP1A3):c.1683C>T (p.Phe561=)	478	ATP1A3	Likely benign	781866390	RCV001404612;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42482426	42482426	42482426	-
NM_152296.5(ATP1A3):c.1673G>A (p.Gly558Asp)	478	ATP1A3	Uncertain significance	2075193579	RCV001294749;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42482436	42482436	42482436	-
NM_152296.5(ATP1A3):c.1672G>A (p.Gly558Ser)	478	ATP1A3	Uncertain significance	-1	RCV002988365;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42482437	42482437	NC_000019.9:g.42482437C>T	-
NM_152296.5(ATP1A3):c.1657G>A (p.Glu553Lys)	478	ATP1A3	Uncertain significance	2075193714	RCV001342044;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42482452	42482452	42482452	-
NM_152296.5(ATP1A3):c.1654G>C (p.Glu552Gln)	478	ATP1A3	Uncertain significance	367904817	RCV000694671;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42482455	42482455	19:g.42482455C>G	-	C1868681 128235 Dystonia 12;
NM_152296.5(ATP1A3):c.1653C>T (p.Pro551=)	478	ATP1A3	Likely benign	782493144	RCV001505753;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42482456	42482456	42482456	-
NM_152296.5(ATP1A3):c.1653C>G (p.Pro551=)	478	ATP1A3	Likely benign	782493144	RCV001491566;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42482456	42482456	42482456	-
NM_152296.5(ATP1A3):c.1651C>T (p.Pro551Ser)	478	ATP1A3	Uncertain significance	2075193911	RCV001213194;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42482458	42482458	19:g.42482458G>A	-
NM_152296.5(ATP1A3):c.1631-8G>A	478	ATP1A3	Likely benign	-1	RCV002766492;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42482486	42482486	NC_000019.9:g.42482486C>T	-
NM_152296.5(ATP1A3):c.1631-12C>T	478	ATP1A3	Likely benign	1555862173	RCV002128309;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42482490	42482490	42482490	-
NM_152296.5(ATP1A3):c.1630+18G>A	478	ATP1A3	Likely benign	-1	RCV002885734;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42482740	42482740	NC_000019.9:g.42482740C>T	-
NM_152296.5(ATP1A3):c.1630+17C>A	478	ATP1A3	Likely benign	782259548	RCV002210646;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42482741	42482741	42482741	-
NM_152296.5(ATP1A3):c.1630+13C>T	478	ATP1A3	Likely benign	-1	RCV003069941;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42482745	42482745	NC_000019.9:g.42482745G>A	-
NM_152296.5(ATP1A3):c.1630+13C>G	478	ATP1A3	Likely benign	-1	RCV002983108;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42482745	42482745	NC_000019.9:g.42482745G>C	-
NM_152296.5(ATP1A3):c.1630+4C>T	478	ATP1A3	Uncertain significance	-1	RCV002695592;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42482754	42482754	NC_000019.9:g.42482754G>A	-
NM_152296.5(ATP1A3):c.1630+2T>C	478	ATP1A3	Likely pathogenic	2145965854	RCV001986864;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42482756	42482756	42482756	-
NM_152296.5(ATP1A3):c.1623C>T (p.Arg541=)	478	ATP1A3	Likely benign	370771508	RCV001417857;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42482765	42482765	42482765	-
NM_152296.5(ATP1A3):c.1621C>T (p.Arg541Cys)	478	ATP1A3	Uncertain significance	1555862292	RCV001296565;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42482767	42482767	42482767	-
NM_152296.5(ATP1A3):c.1609G>A (p.Gly537Ser)	478	ATP1A3	Uncertain significance	2145965881	RCV001909169;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42482779	42482779	42482779	-
NM_152296.5(ATP1A3):c.1605C>T (p.Leu535=)	478	ATP1A3	Benign/Likely benign	148097195	RCV001131089\|RCV001131090\|RCV002260143\|RCV002260144;	N	MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820, Orphanet:2131\|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|MONDO:MONDO:0011038,MedGen:C1832466,OMIM:601338, Orphanet:1171\|MONDO:MONDO:0030473,MedGen:C5562018,OMIM:619606	19	42482783	42482783	19:g.42482783G>A	-
NM_152296.5(ATP1A3):c.1564G>A (p.Glu522Lys)	478	ATP1A3	Uncertain significance	782769181	RCV001062235;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42482824	42482824	19:g.42482824C>T	-
NM_152296.5(ATP1A3):c.1563C>A (p.Asp521Glu)	478	ATP1A3	Uncertain significance	368551273	RCV000820555;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42482825	42482825	19:g.42482825G>T	-
NM_152296.5(ATP1A3):c.1563C>T (p.Asp521=)	478	ATP1A3	Likely benign	368551273	RCV002104609;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42482825	42482825	42482825	-
NM_152296.5(ATP1A3):c.1555C>A (p.Pro519Thr)	478	ATP1A3	Uncertain significance	-1	RCV002298391;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42482833	42482833	42482833	-
NM_152296.5(ATP1A3):c.1552C>G (p.Gln518Glu)	478	ATP1A3	Uncertain significance	-1	RCV002295220;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42482836	42482836	42482836	-
NM_152296.5(ATP1A3):c.1548G>A (p.Lys516=)	478	ATP1A3	Likely benign	-1	RCV003075266;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42482840	42482840		-
NM_152296.5(ATP1A3):c.1541A>C (p.Gln514Pro)	478	ATP1A3	Uncertain significance	2145965993	RCV002005816;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42482847	42482847	42482847	-
NM_152296.5(ATP1A3):c.1538T>A (p.Leu513Gln)	478	ATP1A3	Uncertain significance	-1	RCV002766276;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42482850	42482850	NC_000019.9:g.42482850A>T	-
NM_152296.5(ATP1A3):c.1527C>T (p.Ser509=)	478	ATP1A3	Benign/Likely benign	199625170	RCV000287392\|RCV000381814\|RCV001576943\|RCV002259872\|RCV002259873;	N	MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820, Orphanet:2131\|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|MedGen:C3661900\|MONDO:MONDO:0011038,MedGen:C1832466,OMIM:601338, Orphanet:1171\|MONDO:MONDO:0030473,MedGen:C5562018,OMIM:619606	19	42482861	42482861	NC_000019.9:g.42482861G>A	ClinGen:CA9467612	C0338488 Alternating hemiplegia of childhood;
NM_152296.5(ATP1A3):c.1520G>A (p.Arg507His)	478	ATP1A3	Uncertain significance	782370873	RCV000644927;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42482868	42482868	NC_000019.9:g.42482868C>T	ClinGen:CA9467613	C1868681 128235 Dystonia 12;
NM_152296.5(ATP1A3):c.1519C>T (p.Arg507Cys)	478	ATP1A3	Uncertain significance	749776123	RCV001229319\|RCV001773520;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|MedGen:CN517202	19	42482869	42482869	19:g.42482869G>A	-
NM_152296.5(ATP1A3):c.1512C>A (p.Ile504=)	478	ATP1A3	Likely benign	2145966048	RCV002119439;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42482876	42482876	42482876	-
NM_152296.5(ATP1A3):c.1503C>T (p.Pro501=)	478	ATP1A3	Likely benign	143904999	RCV000862788\|RCV001585808\|RCV002487891;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|MedGen:CN517202\|MONDO:MONDO:0011038,MedGen:C1832466,OMIM:601338, Orphanet:1171; MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517; MONDO:MONDO:0030473,MedGen:C5562018,OMIM:619606; M	19	42482885	42482885	19:g.42482885G>A	-
NM_152296.5(ATP1A3):c.1500C>T (p.Ala500=)	478	ATP1A3	Benign/Likely benign	146606627	RCV000342341\|RCV000405133\|RCV001568976\|RCV002259874\|RCV002259875;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820, Orphanet:2131\|MedGen:C3661900\|MONDO:MONDO:0011038,MedGen:C1832466,OMIM:601338, Orphanet:1171\|MONDO:MONDO:0030473,MedGen:C5562018,OMIM:619606	19	42482888	42482888	NC_000019.9:g.42482888G>A	ClinGen:CA9467618	C0338488 Alternating hemiplegia of childhood;
NM_152296.5(ATP1A3):c.1500C>A (p.Ala500=)	478	ATP1A3	Likely benign	146606627	RCV001409014;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42482888	42482888	42482888	-
NM_152296.5(ATP1A3):c.1495G>A (p.Gly499Ser)	478	ATP1A3	Uncertain significance	2145966073	RCV001370153;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42482893	42482893	42482893	-
NM_152296.5(ATP1A3):c.1494G>A (p.Lys498=)	478	ATP1A3	Uncertain significance	1555862337	RCV000644922;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42482894	42482894	19:g.42482894C>T	ClinGen:CA507587691	C1868681 128235 Dystonia 12;
NM_152296.5(ATP1A3):c.1491G>C (p.Met497Ile)	478	ATP1A3	Uncertain significance	2075198787	RCV001036689;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42482897	42482897	19:g.42482897C>G	-
NM_152296.5(ATP1A3):c.1485G>A (p.Leu495=)	478	ATP1A3	Likely benign	1555862341	RCV001465521;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42482903	42482903	42482903	-
NM_152296.5(ATP1A3):c.1483C>T (p.Leu495=)	478	ATP1A3	Likely benign	1555862344	RCV000644930;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42482905	42482905	19:g.42482905G>A	ClinGen:CA507587739	C1868681 128235 Dystonia 12;
NM_152296.5(ATP1A3):c.1474C>G (p.Arg492Gly)	478	ATP1A3	Uncertain significance	1254049182	RCV000701124;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42482914	42482914	19:g.42482914G>C	-	C1868681 128235 Dystonia 12;
NM_152296.5(ATP1A3):c.1472A>G (p.Asn491Ser)	478	ATP1A3	Uncertain significance	782775696	RCV000815257\|RCV003311898;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|MedGen:C3661900	19	42482916	42482916	19:g.42482916T>C	-
NM_152296.5(ATP1A3):c.1467C>T (p.Asn489=)	478	ATP1A3	Likely benign	138797500	RCV001421110;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42482921	42482921	42482921	-
NM_152296.5(ATP1A3):c.1466A>G (p.Asn489Ser)	478	ATP1A3	Uncertain significance	2075199183	RCV001316724;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42482922	42482922	42482922	-
NM_152296.5(ATP1A3):c.1462C>T (p.Pro488Ser)	478	ATP1A3	Uncertain significance	-1	RCV003019947;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42482926	42482926	NC_000019.9:g.42482926G>A	-
NM_152296.5(ATP1A3):c.1456G>A (p.Glu486Lys)	478	ATP1A3	Uncertain significance	1599716048	RCV001323458;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42482932	42482932	42482932	-
NM_152296.5(ATP1A3):c.1455C>T (p.Thr485=)	478	ATP1A3	Likely benign	372153087	RCV001446929;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42482933	42482933	42482933	-
NM_152296.5(ATP1A3):c.1454C>T (p.Thr485Ile)	478	ATP1A3	Uncertain significance	1555862366	RCV001224428;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42482934	42482934	19:g.42482934G>A	-
NM_152296.5(ATP1A3):c.1438-2A>G	478	ATP1A3	Likely pathogenic	2075199553	RCV001342144;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42482952	42482952	42482952	-
NM_152296.5(ATP1A3):c.1438-10C>T	478	ATP1A3	Likely benign	200271372	RCV000644944\|RCV001592798;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|MedGen:C3661900	19	42482960	42482960	19:g.42482960G>A	ClinGen:CA9467630	C1868681 128235 Dystonia 12;
NM_152296.5(ATP1A3):c.1437+17G>A	478	ATP1A3	Likely benign	371469761	RCV001950744;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42485637	42485637	42485637	-
NM_152296.5(ATP1A3):c.1437+16C>T	478	ATP1A3	Likely benign	369870482	RCV002097163;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42485638	42485638	42485638	-
NM_152296.5(ATP1A3):c.1437+4C>T	478	ATP1A3	Uncertain significance	2145971500	RCV001943571;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42485650	42485650	42485650	-
NM_152296.5(ATP1A3):c.1429A>T (p.Lys477Ter)	478	ATP1A3	Pathogenic	2145971509	RCV001863934;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42485662	42485662	42485662	-
NM_152296.5(ATP1A3):c.1392C>T (p.Asn464=)	478	ATP1A3	Likely benign	-1	RCV002903820;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42485699	42485699		-
NM_152296.5(ATP1A3):c.1388G>A (p.Arg463His)	478	ATP1A3	Likely benign	782499746	RCV000559746;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42485703	42485703	NC_000019.9:g.42485703C>T	ClinGen:CA9467654	C1868681 128235 Dystonia 12;
NM_152296.5(ATP1A3):c.1387C>T (p.Arg463Cys)	478	ATP1A3	Conflicting interpretations of pathogenicity	150785666	RCV000441666\|RCV000547051\|RCV001131091\|RCV001777161\|RCV002524753;	N	MedGen:CN169374\|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820, Orphanet:2131\|MedGen:C3661900\|MeSH:D030342,MedGen:C0950123	19	42485704	42485704	19:g.42485704G>A	OMIM:182350.0023,ClinGen:CA9467655	C1868681 128235 Dystonia 12;
NM_152296.5(ATP1A3):c.1384G>A (p.Glu462Lys)	478	ATP1A3	Likely benign	2075231792	RCV001034385;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42485707	42485707	19:g.42485707C>T	-
NM_152296.5(ATP1A3):c.1377G>A (p.Leu459=)	478	ATP1A3	Likely benign	-1	RCV003092602;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42485714	42485714		-
NM_152296.5(ATP1A3):c.1369G>C (p.Val457Leu)	478	ATP1A3	Uncertain significance	2145971610	RCV001904321;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42485722	42485722	42485722	-
NM_152296.5(ATP1A3):c.1368C>T (p.Ser456=)	478	ATP1A3	Likely benign	782325595	RCV001437230\|RCV002501543;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|MONDO:MONDO:0030473,MedGen:C5562018,OMIM:619606; MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517; MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820, Orphanet:2131; MONDO:MONDO:00110	19	42485723	42485723	42485723	-
NM_152296.5(ATP1A3):c.1357T>G (p.Ser453Ala)	478	ATP1A3	Uncertain significance	1480822980	RCV001236504;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42485734	42485734	19:g.42485734A>C	-
NM_152296.5(ATP1A3):c.1354C>T (p.Leu452=)	478	ATP1A3	Likely benign	1555863355	RCV001467862;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42485737	42485737	42485737	-
NM_152296.5(ATP1A3):c.1350C>T (p.Ile450=)	478	ATP1A3	Likely benign	559103129	RCV001464808;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42485741	42485741	42485741	-
NM_152296.5(ATP1A3):c.1344G>A (p.Lys448=)	478	ATP1A3	Likely benign	149547406	RCV001450133;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42485747	42485747	42485747	-
NM_152296.5(ATP1A3):c.1338G>A (p.Leu446=)	478	ATP1A3	Likely benign	1555863367	RCV001422302;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42485753	42485753	42485753	-
NM_152296.5(ATP1A3):c.1336C>G (p.Leu446Val)	478	ATP1A3	Uncertain significance	2075232387	RCV001229417;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42485755	42485755	19:g.42485755G>C	-
NM_152296.5(ATP1A3):c.1333G>T (p.Ala445Ser)	478	ATP1A3	Uncertain significance	1555863376	RCV001921966;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42485758	42485758	42485758	-
NM_152296.5(ATP1A3):c.1326T>C (p.Ser442=)	478	ATP1A3	Likely benign	-1	RCV002843363;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42485765	42485765		-
NM_152296.5(ATP1A3):c.1323G>A (p.Ala441=)	478	ATP1A3	Conflicting interpretations of pathogenicity	34578730	RCV000145247\|RCV000283640\|RCV000406176\|RCV000857914;	N	MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820, Orphanet:2131\|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|MedGen:CN169374\|MedGen:C3661900	19	42485768	42485768	19:g.42485768C>T	ClinGen:CA171283	C0338488 Alternating hemiplegia of childhood;
NM_152296.5(ATP1A3):c.1323G>T (p.Ala441=)	478	ATP1A3	Likely benign	34578730	RCV000904597;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42485768	42485768	19:g.42485768C>A	-
NM_152296.5(ATP1A3):c.1322C>T (p.Ala441Val)	478	ATP1A3	Uncertain significance	2075232659	RCV001308366;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42485769	42485769	42485769	-
NM_152296.5(ATP1A3):c.1314T>C (p.Ala438=)	478	ATP1A3	Likely benign	-1	RCV002872434;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42485777	42485777		-
NM_152296.5(ATP1A3):c.1312G>A (p.Ala438Thr)	478	ATP1A3	Uncertain significance	782711218	RCV001349501\|RCV001586141;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|MedGen:CN517202	19	42485779	42485779	42485779	-
NM_152296.5(ATP1A3):c.1303-5T>G	478	ATP1A3	Conflicting interpretations of pathogenicity	782123500	RCV000699183\|RCV000762025;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|MedGen:C3661900	19	42485793	42485793	19:g.42485793A>C	-	C1868681 128235 Dystonia 12;
NM_152296.5(ATP1A3):c.1303-12T>G	478	ATP1A3	Likely benign	-1	RCV002801569;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42485800	42485800	NC_000019.9:g.42485800A>C	-
NM_152296.5(ATP1A3):c.1303-14C>G	478	ATP1A3	Likely benign	1555863411	RCV002104717;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42485802	42485802	42485802	-
NM_152296.5(ATP1A3):c.1303-15C>A	478	ATP1A3	Conflicting interpretations of pathogenicity	782749835	RCV000298126\|RCV000405974;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820, Orphanet:2131	19	42485803	42485803	NC_000019.9:g.42485803G>T	ClinGen:CA9467669	C0338488 Alternating hemiplegia of childhood;
NM_152296.5(ATP1A3):c.1303-19C>A	478	ATP1A3	Likely benign	-1	RCV003045945;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42485807	42485807	NC_000019.9:g.42485807G>T	-
NM_152296.5(ATP1A3):c.1303-20A>T	478	ATP1A3	Likely benign	-1	RCV002600841;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42485808	42485808	NC_000019.9:g.42485808T>A	-
NM_152296.5(ATP1A3):c.1302+1G>A	478	ATP1A3	Likely pathogenic	1599719130	RCV000793132;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42485873	42485873	19:g.42485873C>T	-
NM_152296.5(ATP1A3):c.1299del (p.Lys434fs)	478	ATP1A3	Pathogenic	-1	RCV002880636;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42485877	42485877	NC_000019.9:g.42485877del	-
NM_152296.5(ATP1A3):c.1296G>T (p.Val432=)	478	ATP1A3	Conflicting interpretations of pathogenicity	781928217	RCV000415740\|RCV001487003;	N	MedGen:C3661900\|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42485880	42485880	NC_000019.9:g.42485880C>A	ClinGen:CA9467681
NM_152296.5(ATP1A3):c.1288A>G (p.Ile430Val)	478	ATP1A3	Uncertain significance	1555863472	RCV000644925;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42485888	42485888	19:g.42485888T>C	ClinGen:CA406050192	C1868681 128235 Dystonia 12;
NM_152296.5(ATP1A3):c.1281G>A (p.Gln427=)	478	ATP1A3	Benign	116979196	RCV000352996\|RCV000394092\|RCV001706531\|RCV002259876\|RCV002259877;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820, Orphanet:2131\|MedGen:C3661900\|MONDO:MONDO:0011038,MedGen:C1832466,OMIM:601338, Orphanet:1171\|MONDO:MONDO:0030473,MedGen:C5562018,OMIM:619606	19	42485895	42485895	NC_000019.9:g.42485895C>T	ClinGen:CA9467683	C0338488 Alternating hemiplegia of childhood;
NM_152296.5(ATP1A3):c.1279C>G (p.Gln427Glu)	478	ATP1A3	Uncertain significance	2075234284	RCV001340295;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42485897	42485897	42485897	-
NM_152296.5(ATP1A3):c.1261G>A (p.Ala421Thr)	478	ATP1A3	Uncertain significance	782154735	RCV001952794;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42485915	42485915	42485915	-
NM_152296.5(ATP1A3):c.1260C>T (p.Arg420=)	478	ATP1A3	Benign	113909283	RCV000644937\|RCV001662698\|RCV002260036\|RCV002260037\|RCV002260035;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|MedGen:C3661900\|MONDO:MONDO:0011038,MedGen:C1832466,OMIM:601338, Orphanet:1171\|MONDO:MONDO:0030473,MedGen:C5562018,OMIM:619606\|MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820, Orphanet:2131	19	42485916	42485916	NC_000019.9:g.42485916G>A	ClinGen:CA9467686	C1868681 128235 Dystonia 12;
NM_152296.5(ATP1A3):c.1260C>G (p.Arg420=)	478	ATP1A3	Likely benign	113909283	RCV001447805\|RCV001555243;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|MedGen:C3661900	19	42485916	42485916	42485916	-
NM_152296.5(ATP1A3):c.1258C>T (p.Arg420Cys)	478	ATP1A3	Uncertain significance	1318364500	RCV001528112;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42485918	42485918	42485918	-
NM_152296.5(ATP1A3):c.1243G>C (p.Ala415Pro)	478	ATP1A3	Uncertain significance	-1	RCV002834376;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42485933	42485933	NC_000019.9:g.42485933C>G	-
NM_152296.5(ATP1A3):c.1242C>T (p.Ile414=)	478	ATP1A3	Likely benign	1309536843	RCV002162737;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42485934	42485934	42485934	-
NM_152296.5(ATP1A3):c.1232T>C (p.Leu411Pro)	478	ATP1A3	Uncertain significance	1568862410	RCV000702106;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42485944	42485944	NC_000019.9:g.42485944A>G	-	C1868681 128235 Dystonia 12;
NM_152296.5(ATP1A3):c.1230C>T (p.Ala410=)	478	ATP1A3	Likely benign	-1	RCV002681667;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42485946	42485946		-
NM_152296.5(ATP1A3):c.1218C>T (p.His406=)	478	ATP1A3	Likely benign	1238469762	RCV002213746\|RCV002496139;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517; MONDO:MONDO:0030473,MedGen:C5562018,OMIM:619606; MONDO:MONDO:0011038,MedGen:C1832466,OMIM:601338, Orphanet:1171; MONDO:MONDO:00139	19	42485958	42485958	42485958	-
NM_152296.5(ATP1A3):c.1215G>A (p.Ser405=)	478	ATP1A3	Likely benign	374534881	RCV002108982\|RCV002275345;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|MedGen:C3661900	19	42485961	42485961	42485961	-
NM_152296.5(ATP1A3):c.1207A>G (p.Lys403Glu)	478	ATP1A3	Uncertain significance	-1	RCV002780985;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42485969	42485969	NC_000019.9:g.42485969T>C	-
NM_152296.5(ATP1A3):c.1206C>T (p.Asp402=)	478	ATP1A3	Likely benign	572012327	RCV002214113\|RCV003089124;	N	MedGen:C3661900\|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42485970	42485970	42485970	-
NM_152296.5(ATP1A3):c.1197C>T (p.Thr399=)	478	ATP1A3	Likely benign	781903799	RCV001491797;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42485979	42485979	42485979	-
NM_152296.5(ATP1A3):c.1197C>A (p.Thr399=)	478	ATP1A3	Likely benign	781903799	RCV002137601;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42485979	42485979	42485979	-
NM_152296.5(ATP1A3):c.1193-4C>G	478	ATP1A3	Benign/Likely benign	200111818	RCV000470593\|RCV001529518\|RCV002259959\|RCV002259960\|RCV002259958\|RCV002525651;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|MedGen:CN517202\|MONDO:MONDO:0011038,MedGen:C1832466,OMIM:601338, Orphanet:1171\|MONDO:MONDO:0030473,MedGen:C5562018,OMIM:619606\|MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820, Orphanet:2131\|Me	19	42485987	42485987	NC_000019.9:g.42485987G>C	ClinGen:CA9467695	C1868681 128235 Dystonia 12;
NM_152296.5(ATP1A3):c.1193-5C>T	478	ATP1A3	Likely benign	782633348	RCV001489698;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42485988	42485988	19:g.42485988G>A	-
NM_152296.5(ATP1A3):c.1193-13A>T	478	ATP1A3	Likely benign	-1	RCV002770229;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42485996	42485996	NC_000019.9:g.42485996T>A	-
NM_152296.5(ATP1A3):c.1192+12_1192+23del	478	ATP1A3	Likely benign	2145972211	RCV002149373;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42486037	42486048	42486036	-
NM_152296.5(ATP1A3):c.1192+16G>A	478	ATP1A3	Likely benign	-1	RCV002949251;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42486044	42486044	NC_000019.9:g.42486044C>T	-
NM_152296.5(ATP1A3):c.1192+16G>C	478	ATP1A3	Likely benign	-1	RCV003023250;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42486044	42486044	NC_000019.9:g.42486044C>G	-
NM_152296.5(ATP1A3):c.1192+15C>T	478	ATP1A3	Likely benign	782209602	RCV002208884;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42486045	42486045	42486045	-
NM_152296.5(ATP1A3):c.1192+10G>A	478	ATP1A3	Likely benign	2145972233	RCV001459535;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42486050	42486050	42486050	-
NM_152296.5(ATP1A3):c.1192+7G>A	478	ATP1A3	Conflicting interpretations of pathogenicity	374826826	RCV000767899\|RCV001439895\|RCV003224388;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517; MONDO:MONDO:0011038,MedGen:C1832466,OMIM:601338, Orphanet:1171; MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820, Orphanet:2131\|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|MON	19	42486053	42486053	NC_000019.9:g.42486053C>T	-
NM_152296.5(ATP1A3):c.1192+7G>C	478	ATP1A3	Likely benign	374826826	RCV002117651;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42486053	42486053	42486053	-
NM_152296.5(ATP1A3):c.1192+6C>T	478	ATP1A3	Benign/Likely benign	367771319	RCV000313300\|RCV000368159\|RCV001702614\|RCV002259879\|RCV002259878;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820, Orphanet:2131\|MedGen:C3661900\|MONDO:MONDO:0030473,MedGen:C5562018,OMIM:619606\|MONDO:MONDO:0011038,MedGen:C1832466,OMIM:601338, Orphanet:1171	19	42486054	42486054	19:g.42486054G>A	ClinGen:CA9467709	C0338488 Alternating hemiplegia of childhood;
NM_152296.5(ATP1A3):c.1192+3G>A	478	ATP1A3	Benign/Likely benign	374542368	RCV000862078\|RCV001655614\|RCV002260074\|RCV002260073\|RCV002260072\|RCV002538908;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|MedGen:CN517202\|MONDO:MONDO:0030473,MedGen:C5562018,OMIM:619606\|MONDO:MONDO:0011038,MedGen:C1832466,OMIM:601338, Orphanet:1171\|MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820, Orphanet:2131\|Me	19	42486057	42486057	19:g.42486057C>T	-
NM_152296.5(ATP1A3):c.1176C>T (p.Thr392=)	478	ATP1A3	Uncertain significance	1353417724	RCV000767900\|RCV003224389;	N	MONDO:MONDO:0011038,MedGen:C1832466,OMIM:601338, Orphanet:1171; MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517; MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820, Orphanet:2131\|MONDO:MONDO:0011038,MedGen:C1832466,OMIM:601338, Orphanet:1171; MOND	19	42486076	42486076	NC_000019.9:g.42486076G>A	-
NM_152296.5(ATP1A3):c.1164C>A (p.His388Gln)	478	ATP1A3	Uncertain significance	201446077	RCV000813582;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42486088	42486088	19:g.42486088G>T	-
NM_152296.5(ATP1A3):c.1164C>T (p.His388=)	478	ATP1A3	Likely benign	201446077	RCV000877511\|RCV003456450;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|MedGen:C3661900	19	42486088	42486088	19:g.42486088G>A	-
NM_152296.5(ATP1A3):c.1161C>T (p.Ile387=)	478	ATP1A3	Likely benign	2075236406	RCV002194112;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42486091	42486091	42486091	-
NM_152296.5(ATP1A3):c.1137C>T (p.Ala379=)	478	ATP1A3	Likely benign	-1	RCV002711002;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42486115	42486115		-
NM_152296.5(ATP1A3):c.1134C>T (p.Val378=)	478	ATP1A3	Benign/Likely benign	180710845	RCV000865212\|RCV001567533\|RCV002260088\|RCV002260087\|RCV002260089;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|MedGen:C3661900\|MONDO:MONDO:0011038,MedGen:C1832466,OMIM:601338, Orphanet:1171\|MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820, Orphanet:2131\|MONDO:MONDO:0030473,MedGen:C5562018,OMIM:619606	19	42486118	42486118	19:g.42486118G>A	-
NM_152296.5(ATP1A3):c.1133T>C (p.Val378Ala)	478	ATP1A3	Uncertain significance	2145972381	RCV001908849;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42486119	42486119	42486119	-
NM_152296.5(ATP1A3):c.1131A>G (p.Thr377=)	478	ATP1A3	Benign/Likely benign	143242360	RCV000710698\|RCV001084594\|RCV002259995\|RCV002259996\|RCV002259994;	N	MedGen:CN517202\|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|MONDO:MONDO:0011038,MedGen:C1832466,OMIM:601338, Orphanet:1171\|MONDO:MONDO:0030473,MedGen:C5562018,OMIM:619606\|MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820, Orphanet:2131	19	42486121	42486121	NC_000019.9:g.42486121T>C	ClinGen:CA9467717	C1868681 128235 Dystonia 12;
NM_152296.5(ATP1A3):c.1124G>A (p.Arg375His)	478	ATP1A3	Conflicting interpretations of pathogenicity	200891944	RCV000623342\|RCV001855295;	N	MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42486128	42486128	19:g.42486128C>T	ClinGen:CA406051049	C0950123 Inborn genetic diseases;
NM_152296.5(ATP1A3):c.1110C>G (p.Thr370=)	478	ATP1A3	Likely benign	1555863662	RCV001468626;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42486142	42486142	42486142	-
NM_152296.5(ATP1A3):c.1109C>T (p.Thr370Ile)	478	ATP1A3	Likely pathogenic	-1	RCV003019546;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42486143	42486143	NC_000019.9:g.42486143G>A	-
NM_152296.5(ATP1A3):c.1108A>G (p.Thr370Ala)	478	ATP1A3	Likely pathogenic	2145972442	RCV001977812;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42486144	42486144	42486144	-
NM_152296.5(ATP1A3):c.1103C>T (p.Thr368Ile)	478	ATP1A3	Uncertain significance	1599719492	RCV000817982;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42486149	42486149	19:g.42486149G>A	-
NM_152296.5(ATP1A3):c.1096G>A (p.Asp366Asn)	478	ATP1A3	Uncertain significance	2145972473	RCV001937529;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42486156	42486156	42486156	-
NM_152296.5(ATP1A3):c.1088T>C (p.Ile363Thr)	478	ATP1A3	Pathogenic	2145972483	RCV001667867\|RCV001882766;	N	MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820, Orphanet:2131\|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42486164	42486164	42486164	-
NM_152296.5(ATP1A3):c.1088T>A (p.Ile363Asn)	478	ATP1A3	not provided	2145972483	RCV002274490;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42486164	42486164	42486164	-
NM_152296.5(ATP1A3):c.1086C>T (p.Thr362=)	478	ATP1A3	Benign	186453162	RCV000865709\|RCV001615064\|RCV002260092\|RCV002260090\|RCV002260091;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|MedGen:C3661900\|MONDO:MONDO:0030473,MedGen:C5562018,OMIM:619606\|MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820, Orphanet:2131\|MONDO:MONDO:0011038,MedGen:C1832466,OMIM:601338, Orphanet:1171	19	42486166	42486166	19:g.42486166G>A	-
NM_152296.5(ATP1A3):c.1080G>A (p.Thr360=)	478	ATP1A3	Benign/Likely benign	370511776	RCV000863845\|RCV001135539\|RCV002260080\|RCV002260079;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820, Orphanet:2131\|MONDO:MONDO:0030473,MedGen:C5562018,OMIM:619606\|MONDO:MONDO:0011038,MedGen:C1832466,OMIM:601338, Orphanet:1171	19	42486172	42486172	19:g.42486172C>T	-
NM_152296.5(ATP1A3):c.1079C>G (p.Thr360Arg)	478	ATP1A3	Pathogenic/Likely pathogenic	-1	RCV003223518\|RCV003333250;	N	MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820, Orphanet:2131\|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42486173	42486173		-
NM_152296.5(ATP1A3):c.1073G>C (p.Gly358Ala)	478	ATP1A3	Uncertain significance	1555863693	RCV000553164;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42486179	42486179	NC_000019.9:g.42486179C>G	ClinGen:CA406051283	C1868681 128235 Dystonia 12;
NM_152296.5(ATP1A3):c.1073G>A (p.Gly358Asp)	478	ATP1A3	Pathogenic	1555863693	RCV001389186;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42486179	42486179	42486179	-
NM_152296.5(ATP1A3):c.1073G>T (p.Gly358Val)	478	ATP1A3	not provided	1555863693	RCV002274489;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42486179	42486179	42486179	-
NM_152296.5(ATP1A3):c.1072G>T (p.Gly358Cys)	478	ATP1A3	Pathogenic	606231432	RCV001381007;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42486180	42486180	NC_000019.9:g.42486180C>A	ClinGen:CA346007	C3553788 614820 Alternating hemiplegia of childhood 2;
NM_152296.5(ATP1A3):c.1072G>A (p.Gly358Ser)	478	ATP1A3	Pathogenic	606231432	RCV001381008;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42486180	42486180	42486180	-
NM_152296.5(ATP1A3):c.1071G>A (p.Leu357=)	478	ATP1A3	Likely benign	2075237640	RCV001442483;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42486181	42486181	42486181	-
NM_152296.5(ATP1A3):c.1051C>T (p.Leu351=)	478	ATP1A3	Likely benign	782341271	RCV002099669;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42486201	42486201	42486201	-
NM_152296.5(ATP1A3):c.1050C>A (p.Asn350Lys)	478	ATP1A3	Uncertain significance	-1	RCV003021576;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42486202	42486202	NC_000019.9:g.42486202G>T	-
NM_152296.5(ATP1A3):c.1036T>C (p.Cys346Arg)	478	ATP1A3	Likely pathogenic	1599719534	RCV000990223;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42486216	42486216	19:g.42486216A>G	-
NM_152296.5(ATP1A3):c.1027C>T (p.Arg343Trp)	478	ATP1A3	Uncertain significance	782423325	RCV000195268\|RCV001064233\|RCV001762406\|RCV002051826\|RCV002517055;	N	MedGen:CN169374\|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|MedGen:CN517202\|MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820, Orphanet:2131\|MeSH:D030342,MedGen:C0950123	19	42486225	42486225	NC_000019.9:g.42486225G>A	ClinGen:CA209965	CN169374 not specified;
NM_152296.5(ATP1A3):c.1017G>A (p.Lys339=)	478	ATP1A3	Likely benign	140106872	RCV000870119\|RCV001664509;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|MedGen:CN517202	19	42486235	42486235	19:g.42486235C>T	-
NM_152296.5(ATP1A3):c.1013C>A (p.Ala338Asp)	478	ATP1A3	Uncertain significance	2075238567	RCV001309277;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42486239	42486239	42486239	-
NM_152296.5(ATP1A3):c.1012G>A (p.Ala338Thr)	478	ATP1A3	Uncertain significance	2145972624	RCV001931884;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42486240	42486240	42486240	-
NM_152296.5(ATP1A3):c.1011C>T (p.Thr337=)	478	ATP1A3	Conflicting interpretations of pathogenicity	782312004	RCV000273518\|RCV000328686;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820, Orphanet:2131	19	42486241	42486241	19:g.42486241G>A	ClinGen:CA9467727	C0338488 Alternating hemiplegia of childhood;
NM_152296.5(ATP1A3):c.1011C>G (p.Thr337=)	478	ATP1A3	Likely benign	782312004	RCV001404186;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42486241	42486241	42486241	-
NM_152296.5(ATP1A3):c.1006C>T (p.Leu336=)	478	ATP1A3	Likely benign	1555863734	RCV001412473;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42486246	42486246	42486246	-
NM_152296.5(ATP1A3):c.1005G>A (p.Thr335=)	478	ATP1A3	Likely benign	781976856	RCV001485547;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42486247	42486247	19:g.42486247C>T	-
NM_152296.5(ATP1A3):c.994-3C>G	478	ATP1A3	Conflicting interpretations of pathogenicity	377256877	RCV000270151\|RCV000364631\|RCV001706532\|RCV002259881\|RCV002259880;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820, Orphanet:2131\|MedGen:C3661900\|MONDO:MONDO:0030473,MedGen:C5562018,OMIM:619606\|MONDO:MONDO:0011038,MedGen:C1832466,OMIM:601338, Orphanet:1171	19	42486261	42486261	19:g.42486261G>C	ClinGen:CA9467730	C0338488 Alternating hemiplegia of childhood;
NM_152296.5(ATP1A3):c.994-4C>G	478	ATP1A3	Benign/Likely benign	373698149	RCV001135540\|RCV001135541\|RCV002259956\|RCV002259957;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820, Orphanet:2131\|MONDO:MONDO:0011038,MedGen:C1832466,OMIM:601338, Orphanet:1171\|MONDO:MONDO:0030473,MedGen:C5562018,OMIM:619606	19	42486262	42486262	NC_000019.9:g.42486262G>C	ClinGen:CA9467731	C1868681 128235 Dystonia 12;
NM_152296.5(ATP1A3):c.994-9G>A	478	ATP1A3	Likely benign	201175414	RCV000644941\|RCV001592796;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|MedGen:CN517202	19	42486267	42486267	19:g.42486267C>T	ClinGen:CA9467732	C1868681 128235 Dystonia 12;
NM_152296.5(ATP1A3):c.994-10C>T	478	ATP1A3	Likely benign	781783591	RCV001394606;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42486268	42486268	42486268	-
NM_152296.5(ATP1A3):c.994-13G>A	478	ATP1A3	Likely benign	372105495	RCV002137146;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42486271	42486271	42486271	-
NM_152296.5(ATP1A3):c.994-16C>A	478	ATP1A3	Likely benign	-1	RCV002927720;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42486274	42486274	NC_000019.9:g.42486274G>T	-
NM_152296.5(ATP1A3):c.994-20T>G	478	ATP1A3	Benign	138485069	RCV001579501\|RCV002072283\|RCV001724372;	N	MedGen:CN169374\|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|MedGen:C3661900	19	42486278	42486278	42486278	-
NC_000019.9:g.(?_42489050)_(42490401_?)del	478	ATP1A3	Pathogenic	-1	RCV003113684;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42489050	42490401		-
NM_152296.5(ATP1A3):c.993+9A>T	478	ATP1A3	Likely benign	376821676	RCV001479027;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42489061	42489061	42489061	-
NM_152296.5(ATP1A3):c.993+8C>G	478	ATP1A3	Likely benign	-1	RCV002867922;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42489062	42489062	NC_000019.9:g.42489062G>C	-
NM_152296.5(ATP1A3):c.992C>T (p.Thr331Ile)	478	ATP1A3	Uncertain significance	2075272037	RCV001320183;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42489071	42489071	42489071	-
NM_152296.5(ATP1A3):c.990C>T (p.Val330=)	478	ATP1A3	Likely benign	2145977662	RCV002072421;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42489073	42489073	42489073	-
NM_152296.5(ATP1A3):c.977T>G (p.Leu326Arg)	478	ATP1A3	Pathogenic/Likely pathogenic	1131691307	RCV000493714\|RCV001060259;	N	MedGen:CN517202\|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42489086	42489086	19:g.42489086A>C	ClinGen:CA406052127	CN517202 not provided;
NM_152296.5(ATP1A3):c.973G>C (p.Gly325Arg)	478	ATP1A3	Conflicting interpretations of pathogenicity	2145977694	RCV002017694;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42489090	42489090	42489090	-
NM_152296.5(ATP1A3):c.968C>T (p.Pro323Leu)	478	ATP1A3	Conflicting interpretations of pathogenicity	1085307933	RCV000489150\|RCV000703309;	N	MedGen:CN517202\|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42489095	42489095	19:g.42489095G>A	ClinGen:CA406052166	C1868681 128235 Dystonia 12;
NM_152296.5(ATP1A3):c.962A>T (p.Asn321Ile)	478	ATP1A3	Uncertain significance	1176093601	RCV001898649;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42489101	42489101	42489101	-
NM_152296.5(ATP1A3):c.962A>G (p.Asn321Ser)	478	ATP1A3	Uncertain significance	-1	RCV002584066;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42489101	42489101	NC_000019.9:g.42489101T>C	-
NM_152296.5(ATP1A3):c.954C>G (p.Ile318Met)	478	ATP1A3	Pathogenic	529241207	RCV001257081\|RCV002560179;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517; MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820, Orphanet:2131\|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42489109	42489109	19:g.42489109G>C	-
NM_152296.5(ATP1A3):c.954C>A (p.Ile318=)	478	ATP1A3	Likely benign	529241207	RCV001322916;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42489109	42489109	42489109	-
NM_152296.5(ATP1A3):c.946G>A (p.Gly316Ser)	478	ATP1A3	Pathogenic	869320661	RCV000210848\|RCV003335231;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|	19	42489117	42489117	NC_000019.9:g.42489117C>T	ClinGen:CA358802,OMIM:182350.0018	C1868681 128235 Dystonia 12;
NM_152296.5(ATP1A3):c.945C>T (p.Ile315=)	478	ATP1A3	Likely benign	782718686	RCV001398348;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42489118	42489118	42489118	-
NM_152296.5(ATP1A3):c.942C>T (p.Leu314=)	478	ATP1A3	Likely benign	143797324	RCV000867914;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42489121	42489121	19:g.42489121G>A	-
NM_152296.5(ATP1A3):c.936C>A (p.Ile312=)	478	ATP1A3	Conflicting interpretations of pathogenicity	782140994	RCV001130473\|RCV001130474;	N	MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820, Orphanet:2131\|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42489127	42489127	19:g.42489127G>T	-
NM_152296.5(ATP1A3):c.927G>A (p.Glu309=)	478	ATP1A3	Likely benign	-1	RCV003030295;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42489136	42489136		-
NM_152296.5(ATP1A3):c.918C>G (p.Thr306=)	478	ATP1A3	Likely benign	1555864811	RCV000644940;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42489145	42489145	19:g.42489145G>C	ClinGen:CA507695414	C1868681 128235 Dystonia 12;
NM_152296.5(ATP1A3):c.915C>T (p.Tyr305=)	478	ATP1A3	Likely benign	199711612	RCV000861278;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42489148	42489148	19:g.42489148G>A	-
NM_152296.5(ATP1A3):c.910G>A (p.Gly304Arg)	478	ATP1A3	Uncertain significance	1032312899	RCV000558771\|RCV002248771;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|MedGen:CN169374	19	42489153	42489153	NC_000019.9:g.42489153C>T	ClinGen:CA308597221	C1868681 128235 Dystonia 12;
NM_152296.5(ATP1A3):c.909C>T (p.Leu303=)	478	ATP1A3	Benign/Likely benign	782266448	RCV000325257\|RCV000379893\|RCV002259883\|RCV002259882;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820, Orphanet:2131\|MONDO:MONDO:0030473,MedGen:C5562018,OMIM:619606\|MONDO:MONDO:0011038,MedGen:C1832466,OMIM:601338, Orphanet:1171	19	42489154	42489154	NC_000019.9:g.42489154G>A	ClinGen:CA9467763	C0338488 Alternating hemiplegia of childhood;
NM_152296.5(ATP1A3):c.909C>G (p.Leu303=)	478	ATP1A3	Likely benign	782266448	RCV000866553\|RCV001531466;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|MedGen:C3661900	19	42489154	42489154	19:g.42489154G>C	-
NM_152296.5(ATP1A3):c.904A>G (p.Ile302Val)	478	ATP1A3	Uncertain significance	782326264	RCV001072076\|RCV001545737;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|MedGen:CN517202	19	42489159	42489159	19:g.42489159T>C	-
NM_152296.5(ATP1A3):c.902T>G (p.Leu301Arg)	478	ATP1A3	Uncertain significance	-1	RCV002834562;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42489161	42489161	NC_000019.9:g.42489161A>C	-
NM_152296.5(ATP1A3):c.897C>T (p.Leu299=)	478	ATP1A3	Likely benign	1485886227	RCV002090469;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42489166	42489166	42489166	-
NM_152296.5(ATP1A3):c.893T>C (p.Ile298Thr)	478	ATP1A3	Uncertain significance	2075272973	RCV001309294;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42489170	42489170	42489170	-
NM_152296.5(ATP1A3):c.886TTC[1] (p.Phe297del)	478	ATP1A3	Uncertain significance	1555864827	RCV000534182;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42489172	42489174	19:g.42489172_42489174del	ClinGen:CA658658818	C1868681 128235 Dystonia 12;
NM_152296.5(ATP1A3):c.891C>T (p.Phe297=)	478	ATP1A3	Likely benign	921400561	RCV000546242;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42489172	42489172	19:g.42489172G>A	ClinGen:CA308597228	C1868681 128235 Dystonia 12;
NM_152296.5(ATP1A3):c.882C>G (p.Val294=)	478	ATP1A3	Likely benign	1555864832	RCV001451031;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42489181	42489181	42489181	-
NM_152296.5(ATP1A3):c.879T>C (p.Gly293=)	478	ATP1A3	Likely benign	782184674	RCV000867797;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42489184	42489184	19:g.42489184A>G	-
NM_152296.5(ATP1A3):c.861C>T (p.Gly287=)	478	ATP1A3	Likely benign	539729675	RCV001043777;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42489202	42489202	19:g.42489202G>A	-
NM_152296.5(ATP1A3):c.859G>T (p.Gly287Cys)	478	ATP1A3	Uncertain significance	-1	RCV003069252;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42489204	42489204	NC_000019.9:g.42489204C>A	-
NM_152296.5(ATP1A3):c.858C>T (p.Thr286=)	478	ATP1A3	Likely benign	368998149	RCV000644934\|RCV001561391;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|MedGen:CN517202	19	42489205	42489205	NC_000019.9:g.42489205G>A	ClinGen:CA9467770	C1868681 128235 Dystonia 12;
NM_152296.5(ATP1A3):c.852C>T (p.Leu284=)	478	ATP1A3	Likely benign	781983476	RCV002163338;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42489211	42489211	42489211	-
NM_152296.5(ATP1A3):c.841T>G (p.Phe281Val)	478	ATP1A3	Uncertain significance	2145977959	RCV001988300;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42489222	42489222	42489222	-
NM_152296.5(ATP1A3):c.838C>T (p.His280Tyr)	478	ATP1A3	Uncertain significance	2075273663	RCV001216759;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42489225	42489225	19:g.42489225G>A	-
NM_152296.5(ATP1A3):c.834T>C (p.Ile278=)	478	ATP1A3	Likely benign	2145977982	RCV002081621;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42489229	42489229	42489229	-
NM_152296.5(ATP1A3):c.829G>A (p.Glu277Lys)	478	ATP1A3	Pathogenic	80356533	RCV000013774;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42489234	42489234	19:g.42489234C>T	ClinGen:CA341235,UniProtKB:P13637#VAR_026736,OMIM:182350.0003	C1868681 128235 Dystonia 12;
NM_152296.5(ATP1A3):c.828C>T (p.Ile276=)	478	ATP1A3	Likely benign	-1	RCV002617457;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42489235	42489235		-
NM_152296.5(ATP1A3):c.822C>T (p.Ile274=)	478	ATP1A3	Likely benign	558011104	RCV000867627;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42489241	42489241	19:g.42489241G>A	-
NM_152296.5(ATP1A3):c.821T>C (p.Ile274Thr)	478	ATP1A3	Pathogenic	80356532	RCV000013773;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42489242	42489242	19:g.42489242A>G	ClinGen:CA341234,UniProtKB:P13637#VAR_026735,OMIM:182350.0002	C1868681 128235 Dystonia 12;
NM_152296.5(ATP1A3):c.819C>T (p.Pro273=)	478	ATP1A3	Likely benign	-1	RCV002755119;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42489244	42489244		-
NM_152296.5(ATP1A3):c.816G>A (p.Thr272=)	478	ATP1A3	Benign/Likely benign	149898088	RCV000710703\|RCV001084095\|RCV001130475\|RCV002260011\|RCV002260012\|RCV001724053;	N	MedGen:C3661900\|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820, Orphanet:2131\|MONDO:MONDO:0011038,MedGen:C1832466,OMIM:601338, Orphanet:1171\|MONDO:MONDO:0030473,MedGen:C5562018,OMIM:619606\|Me	19	42489247	42489247	19:g.42489247C>T	ClinGen:CA9467775	C1868681 128235 Dystonia 12;
NM_152296.5(ATP1A3):c.809G>A (p.Gly270Asp)	478	ATP1A3	Uncertain significance	1555864875	RCV001894190;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42489254	42489254	42489254	-
NM_152296.5(ATP1A3):c.804G>A (p.Glu268=)	478	ATP1A3	Likely benign	781831563	RCV000865643;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42489259	42489259	19:g.42489259C>T	-
NM_152296.5(ATP1A3):c.798G>A (p.Gly266=)	478	ATP1A3	Likely benign	2145978100	RCV001413837;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42489265	42489265	42489265	-
NM_152296.5(ATP1A3):c.786C>T (p.Thr262=)	478	ATP1A3	Conflicting interpretations of pathogenicity	74581050	RCV000513610\|RCV001130476\|RCV001130477;	N	MedGen:C3661900\|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820, Orphanet:2131	19	42489277	42489277	19:g.42489277G>A	ClinGen:CA9467778	CN517202 not provided;
NM_152296.5(ATP1A3):c.775C>T (p.Arg259Cys)	478	ATP1A3	Uncertain significance	2145978147	RCV001931804\|RCV003395305;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|	19	42489288	42489288	42489288	-
NM_152296.5(ATP1A3):c.768C>T (p.Val256=)	478	ATP1A3	Likely benign	1555864895	RCV001406800;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42489295	42489295	42489295	-
NM_152296.5(ATP1A3):c.761G>A (p.Arg254His)	478	ATP1A3	Uncertain significance	1315342682	RCV002024659;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42489302	42489302	42489302	-
NM_152296.5(ATP1A3):c.760C>T (p.Arg254Cys)	478	ATP1A3	Uncertain significance	-1	RCV002877584\|RCV003403935;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|MedGen:CN169374	19	42489303	42489303	NC_000019.9:g.42489303G>A	-
NM_152296.5(ATP1A3):c.759C>T (p.Asp253=)	478	ATP1A3	Likely benign	369131791	RCV001447005;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42489304	42489304	42489304	-
NM_152296.5(ATP1A3):c.756C>T (p.Gly252=)	478	ATP1A3	Likely benign	150070299	RCV000545465\|RCV001698272;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|MedGen:C3661900	19	42489307	42489307	19:g.42489307G>A	ClinGen:CA9467780	C1868681 128235 Dystonia 12;
NM_152296.5(ATP1A3):c.753G>A (p.Thr251=)	478	ATP1A3	Likely benign	782459932	RCV000694215\|RCV001555660;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|MedGen:CN517202	19	42489310	42489310	19:g.42489310C>T	-	C1868681 128235 Dystonia 12;
NM_152296.5(ATP1A3):c.741G>C (p.Val247=)	478	ATP1A3	Benign/Likely benign	767234141	RCV000864894\|RCV001546669\|RCV002260085\|RCV002260086\|RCV002260084;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|MedGen:CN517202\|MONDO:MONDO:0011038,MedGen:C1832466,OMIM:601338, Orphanet:1171\|MONDO:MONDO:0030473,MedGen:C5562018,OMIM:619606\|MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820, Orphanet:2131	19	42489322	42489322	19:g.42489322C>G	-
NM_152296.5(ATP1A3):c.739G>A (p.Val247Met)	478	ATP1A3	Uncertain significance	782227665	RCV000502583\|RCV001857074;	N	MedGen:CN169374\|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42489324	42489324	NC_000019.9:g.42489324C>T	ClinGen:CA9467783	CN169374 not specified;
NM_152296.5(ATP1A3):c.729G>A (p.Thr243=)	478	ATP1A3	Likely benign	374578592	RCV000991570\|RCV002067590;	N	MedGen:CN517202\|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42489334	42489334	19:g.42489334C>T	-
NM_152296.5(ATP1A3):c.728C>T (p.Thr243Met)	478	ATP1A3	Uncertain significance	2075274884	RCV001203797;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42489335	42489335	19:g.42489335G>A	-
NM_152296.5(ATP1A3):c.725-6C>T	478	ATP1A3	Uncertain significance	782647558	RCV001131206\|RCV001131207;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820, Orphanet:2131	19	42489344	42489344	19:g.42489344G>A	-
NM_152296.5(ATP1A3):c.725-8G>C	478	ATP1A3	Likely benign	-1	RCV002760292;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42489346	42489346	NC_000019.9:g.42489346C>G	-
NM_152296.5(ATP1A3):c.724+10G>A	478	ATP1A3	Likely benign	-1	RCV003071233;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42489448	42489448	NC_000019.9:g.42489448C>T	-
NM_152296.5(ATP1A3):c.724+8G>A	478	ATP1A3	Likely benign	781886157	RCV001416947;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42489450	42489450	19:g.42489450C>T	-
NM_152296.5(ATP1A3):c.724+7C>T	478	ATP1A3	Uncertain significance	1213902675	RCV001302305;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42489451	42489451	42489451	-
NM_152296.5(ATP1A3):c.724+1G>T	478	ATP1A3	Likely pathogenic	2075276177	RCV001352343;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42489457	42489457	42489457	-
NM_152296.5(ATP1A3):c.719T>C (p.Val240Ala)	478	ATP1A3	Uncertain significance	2075276205	RCV001219501\|RCV001773492;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|MedGen:CN517202	19	42489463	42489463	19:g.42489463A>G	-
NM_152296.5(ATP1A3):c.714C>T (p.Asn238=)	478	ATP1A3	Likely benign	-1	RCV002846553;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42489468	42489468		-
NM_152296.5(ATP1A3):c.708C>T (p.Ser236=)	478	ATP1A3	Likely benign	145171914	RCV001433587;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42489474	42489474	42489474	-
NM_152296.5(ATP1A3):c.705T>G (p.Phe235Leu)	478	ATP1A3	Benign	782230953	RCV002260434\|RCV002260435\|RCV002260437\|RCV002260436;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820, Orphanet:2131\|MONDO:MONDO:0030473,MedGen:C5562018,OMIM:619606\|MONDO:MONDO:0011038,MedGen:C1832466,OMIM:601338, Orphanet:1171	19	42489477	42489477	42489477	-
NM_152296.5(ATP1A3):c.688C>T (p.Arg230Trp)	478	ATP1A3	Uncertain significance	-1	RCV003115463;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42489494	42489494	NC_000019.9:g.42489494G>A	-
NM_152296.5(ATP1A3):c.678C>G (p.Pro226=)	478	ATP1A3	Likely benign	782427535	RCV001460851;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42489504	42489504	19:g.42489504G>C	-
NM_152296.5(ATP1A3):c.675C>T (p.Asn225=)	478	ATP1A3	Likely benign	1226907239	RCV001479951;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42489507	42489507	42489507	-
NM_152296.5(ATP1A3):c.672C>T (p.Asp224=)	478	ATP1A3	Likely benign	954153137	RCV000920078;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42489510	42489510	19:g.42489510G>A	-
NM_152296.5(ATP1A3):c.669C>T (p.His223=)	478	ATP1A3	Likely benign	201584925	RCV001422043;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42489513	42489513	42489513	-
NM_152296.5(ATP1A3):c.666T>G (p.Thr222=)	478	ATP1A3	Benign/Likely benign	2217342	RCV000145249\|RCV000285864\|RCV000322134\|RCV000710702\|RCV001553874;	N	MedGen:CN169374\|MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820, Orphanet:2131\|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|MedGen:C3661900\|MONDO:MONDO:0011038,MedGen:C1832466,OMIM:601338, Orphanet:1171	19	42489516	42489516	19:g.42489516A>C	ClinGen:CA171287	C0338488 Alternating hemiplegia of childhood;
NM_152296.5(ATP1A3):c.666T>A (p.Thr222=)	478	ATP1A3	Benign/Likely benign	2217342	RCV001517232\|RCV003416380;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|MedGen:C3661900	19	42489516	42489516	42489516	-
NM_152296.5(ATP1A3):c.665_666delinsTG (p.Thr222Met)	478	ATP1A3	Uncertain significance	2145978673	RCV002001830;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42489516	42489517	42489516	-
NM_152296.5(ATP1A3):c.658G>A (p.Asp220Asn)	478	ATP1A3	Uncertain significance	1396898460	RCV001210834\|RCV001549522;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|MedGen:CN517202	19	42489524	42489524	19:g.42489524C>T	-
NM_152296.5(ATP1A3):c.657C>T (p.Pro219=)	478	ATP1A3	Likely benign	181074193	RCV000871026;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42489525	42489525	19:g.42489525G>A	-
NM_152296.5(ATP1A3):c.637G>A (p.Glu213Lys)	478	ATP1A3	Uncertain significance	-1	RCV002918043;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42489545	42489545	NC_000019.9:g.42489545C>T	-
NM_152296.5(ATP1A3):c.636C>T (p.Ser212=)	478	ATP1A3	Likely benign	146476476	RCV000917449;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42489546	42489546	19:g.42489546G>A	-
NM_152296.5(ATP1A3):c.630C>T (p.Gly210=)	478	ATP1A3	Likely benign	199906040	RCV000819999;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42489552	42489552	19:g.42489552G>A	-
NM_152296.5(ATP1A3):c.612C>T (p.Asp204=)	478	ATP1A3	Likely benign	2145978813	RCV001466963;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42489570	42489570	42489570	-
NM_152296.5(ATP1A3):c.607-3C>T	478	ATP1A3	Uncertain significance	886054475	RCV000282141\|RCV000376704;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820, Orphanet:2131	19	42489578	42489578	NC_000019.9:g.42489578G>A	ClinGen:CA10652493	C0338488 Alternating hemiplegia of childhood;
NM_152296.5(ATP1A3):c.607-3del	478	ATP1A3	Benign	781995257	RCV000532847;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42489578	42489578	NC_000019.9:g.42489582del	ClinGen:CA9467824	C1868681 128235 Dystonia 12;
NM_152296.5(ATP1A3):c.607-4C>G	478	ATP1A3	Likely benign	2145978840	RCV002219654;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42489579	42489579	42489579	-
NM_152296.5(ATP1A3):c.607-7C>A	478	ATP1A3	Conflicting interpretations of pathogenicity	782819736	RCV000337219\|RCV000371931;	N	MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820, Orphanet:2131\|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42489582	42489582	NC_000019.9:g.42489582G>T	ClinGen:CA9467826	C0338488 Alternating hemiplegia of childhood;
NM_152296.5(ATP1A3):c.607-10C>T	478	ATP1A3	Likely benign	1250683183	RCV001447511;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42489585	42489585	19:g.42489585G>A	-
NM_152296.5(ATP1A3):c.607-10C>G	478	ATP1A3	Uncertain significance	1250683183	RCV002024759;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42489585	42489585	42489585	-
NM_152296.5(ATP1A3):c.607-13C>A	478	ATP1A3	Likely benign	-1	RCV002966719;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42489588	42489588	NC_000019.9:g.42489588G>T	-
NC_000019.9:g.(?_42489996)_(42492734_?)dup	478	ATP1A3	Uncertain significance	-1	RCV001925540;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42489996	42492734	-1	-
NM_152296.5(ATP1A3):c.606+14T>C	478	ATP1A3	Likely benign	2075281972	RCV002210664;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42490002	42490002	42490002	-
NM_152296.5(ATP1A3):c.598G>A (p.Gly200Ser)	478	ATP1A3	Uncertain significance	1555865238	RCV001337893;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42490024	42490024	42490024	-
NM_152296.5(ATP1A3):c.597C>T (p.His199=)	478	ATP1A3	Likely benign	139145792	RCV000866571;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42490025	42490025	19:g.42490025G>A	-
NM_152296.5(ATP1A3):c.594C>T (p.Ala198=)	478	ATP1A3	Likely benign	1555865244	RCV002193624;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42490028	42490028	42490028	-
NM_152296.5(ATP1A3):c.577C>T (p.Leu193=)	478	ATP1A3	Likely benign	-1	RCV003016903;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42490045	42490045		-
NM_152296.5(ATP1A3):c.571G>T (p.Ala191Ser)	478	ATP1A3	Uncertain significance	1568865274	RCV000703622;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42490051	42490051	NC_000019.9:g.42490051C>A	-	C1868681 128235 Dystonia 12;
NM_152296.5(ATP1A3):c.569C>T (p.Pro190Leu)	478	ATP1A3	Conflicting interpretations of pathogenicity	1599723609	RCV000996936\|RCV002550704;	N	MedGen:C3661900\|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42490053	42490053	19:g.42490053G>A	-
NM_152296.5(ATP1A3):c.562C>T (p.Arg188Ter)	478	ATP1A3	Pathogenic	2075282510	RCV001297560;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42490060	42490060	42490060	-
NM_152296.5(ATP1A3):c.531C>T (p.Val177=)	478	ATP1A3	Likely benign	141696210	RCV000545681;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42490091	42490091	19:g.42490091G>A	ClinGen:CA9467846	C1868681 128235 Dystonia 12;
NM_152296.5(ATP1A3):c.513C>T (p.Asn171=)	478	ATP1A3	Likely benign	782560151	RCV001505926;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42490109	42490109	42490109	-
NM_152296.5(ATP1A3):c.488G>A (p.Arg163Gln)	478	ATP1A3	Uncertain significance	-1	RCV002907664;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42490134	42490134	NC_000019.9:g.42490134C>T	-
NM_152296.5(ATP1A3):c.480G>T (p.Leu160=)	478	ATP1A3	Likely benign	1599723659	RCV001491072;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42490142	42490142	19:g.42490142C>A	-
NM_152296.5(ATP1A3):c.472-5C>G	478	ATP1A3	Likely benign	372041397	RCV001412977\|RCV001568935;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|MedGen:C3661900	19	42490155	42490155	42490155	-
NM_152296.5(ATP1A3):c.472-13C>T	478	ATP1A3	Likely benign	557984701	RCV002083195;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42490163	42490163	42490163	-
NM_152296.5(ATP1A3):c.471+18A>C	478	ATP1A3	Likely benign	-1	RCV002695164;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42490250	42490250	NC_000019.9:g.42490250T>G	-
NM_152296.5(ATP1A3):c.471+3G>A	478	ATP1A3	Uncertain significance	-1	RCV002756201;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42490265	42490265	NC_000019.9:g.42490265C>T	-
NM_152296.5(ATP1A3):c.468C>G (p.Pro156=)	478	ATP1A3	Likely benign	1035085048	RCV000865813;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42490271	42490271	19:g.42490271G>C	-
NM_152296.5(ATP1A3):c.459C>T (p.Asn153=)	478	ATP1A3	Likely benign	-1	RCV002647582;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42490280	42490280		-
NM_152296.5(ATP1A3):c.410_412del (p.Ser137del)	478	ATP1A3	Conflicting interpretations of pathogenicity	1555865385	RCV000599115\|RCV000644926\|RCV001823004;	N	MedGen:CN517202\|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|MONDO:MONDO:0700002,MedGen:CN305087	19	42490327	42490329	NC_000019.9:g.42490329_42490331del	ClinGen:CA658799249	C1868681 128235 Dystonia 12;
NM_152296.5(ATP1A3):c.410C>A (p.Ser137Tyr)	478	ATP1A3	Pathogenic	542652468	RCV001206535;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42490329	42490329	NC_000019.9:g.42490329G>T	ClinGen:CA345997,UniProtKB:P13637#VAR_068936	C3553788 614820 Alternating hemiplegia of childhood 2;
NM_152296.5(ATP1A3):c.408C>T (p.Phe136=)	478	ATP1A3	Likely benign	2145980107	RCV001482479;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42490331	42490331	42490331	-
NM_152296.5(ATP1A3):c.399T>A (p.Thr133=)	478	ATP1A3	Uncertain significance	782428386	RCV001208496;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42490340	42490340	19:g.42490340A>T	-
NM_152296.5(ATP1A3):c.388G>T (p.Val130Leu)	478	ATP1A3	Uncertain significance	1555865397	RCV001220470;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42490351	42490351	19:g.42490351C>A	-
NM_152296.5(ATP1A3):c.376_387del (p.Leu126_Val129del)	478	ATP1A3	Uncertain significance	2145980132	RCV001362387;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42490352	42490363	42490351	-
NM_152296.5(ATP1A3):c.385G>A (p.Val129Met)	478	ATP1A3	Pathogenic/Likely pathogenic	1555865401	RCV000225081\|RCV002274003\|RCV002282097\|RCV003114440;	N	MedGen:CN236437\|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|MedGen:CN517202\|MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820, Orphanet:2131	19	42490354	42490354	19:g.42490354C>T	ClinGen:CA10602480	CN236437 Juvenile onset psychosis;
NM_152296.5(ATP1A3):c.384C>G (p.Ala128=)	478	ATP1A3	Likely benign	782662538	RCV001459404\|RCV002495659;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517; MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820, Orphanet:2131; MONDO:MONDO:0011038,MedGen:C1832466,OMIM:601338, Orphanet:1171; MON	19	42490355	42490355	42490355	-
NM_152296.5(ATP1A3):c.384C>T (p.Ala128=)	478	ATP1A3	Likely benign	782662538	RCV001500130;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42490355	42490355	42490355	-
NM_152296.5(ATP1A3):c.381G>A (p.Ala127=)	478	ATP1A3	Likely benign	782313754	RCV000863824\|RCV001551470;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|MedGen:CN517202	19	42490358	42490358	19:g.42490358C>T	-
NM_152296.5(ATP1A3):c.376C>T (p.Leu126=)	478	ATP1A3	Likely benign	1167271636	RCV001485261;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42490363	42490363	42490363	-
NM_152296.5(ATP1A3):c.372C>T (p.Ile124=)	478	ATP1A3	Likely benign	-1	RCV003091974;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42490367	42490367		-
NM_152296.5(ATP1A3):c.363C>T (p.Tyr121=)	478	ATP1A3	Benign/Likely benign	373180830	RCV000296095\|RCV000351114\|RCV001701853\|RCV001726122\|RCV002259884\|RCV002259885;	N	MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820, Orphanet:2131\|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0011038,MedGen:C1832466,OMIM:601338, Orphanet:1171\|MONDO:MONDO:0030473,MedGen:C556201	19	42490376	42490376	NC_000019.9:g.42490376G>A	ClinGen:CA9467877	C0338488 Alternating hemiplegia of childhood;
NM_152296.5(ATP1A3):c.358-6C>T	478	ATP1A3	Uncertain significance	1395827738	RCV001318646;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42490387	42490387	42490387	-
NM_152296.5(ATP1A3):c.358-7C>G	478	ATP1A3	Uncertain significance	1555865427	RCV001244863;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42490388	42490388	19:g.42490388G>C	-
NM_152296.5(ATP1A3):c.358-13C>A	478	ATP1A3	Likely benign	-1	RCV003075304;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42490394	42490394	NC_000019.9:g.42490394G>T	-
NM_152296.5(ATP1A3):c.358-13C>T	478	ATP1A3	Likely benign	-1	RCV003084958;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42490394	42490394	NC_000019.9:g.42490394G>A	-
NM_152296.5(ATP1A3):c.358-17C>A	478	ATP1A3	Likely benign	1555865438	RCV002111224;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42490398	42490398	42490398	-
NM_152296.5(ATP1A3):c.357+19C>T	478	ATP1A3	Likely benign	-1	RCV002895721;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42492069	42492069	NC_000019.9:g.42492069G>A	-
NM_152296.5(ATP1A3):c.357+16C>G	478	ATP1A3	Likely benign	-1	RCV003014943;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42492072	42492072	NC_000019.9:g.42492072G>C	-
NM_152296.5(ATP1A3):c.357+15C>A	478	ATP1A3	Likely benign	782291161	RCV002219907;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42492073	42492073	42492073	-
NM_152296.5(ATP1A3):c.357+14C>T	478	ATP1A3	Likely benign	-1	RCV003042835;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42492074	42492074	NC_000019.9:g.42492074G>A	-
NM_152296.5(ATP1A3):c.357+13A>G	478	ATP1A3	Likely benign	-1	RCV002587914;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42492075	42492075	NC_000019.9:g.42492075T>C	-
NM_152296.5(ATP1A3):c.357+9C>G	478	ATP1A3	Likely benign	782403205	RCV002211715;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42492079	42492079	42492079	-
NM_152296.5(ATP1A3):c.357C>T (p.Asn119=)	478	ATP1A3	Benign/Likely benign	143547136	RCV000311209\|RCV000404431\|RCV000513805\|RCV002259886\|RCV002259887\|RCV002502273;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820, Orphanet:2131\|MedGen:C3661900\|MONDO:MONDO:0011038,MedGen:C1832466,OMIM:601338, Orphanet:1171\|MONDO:MONDO:0030473,MedGen:C5562018,OMIM:619606\|MO	19	42492088	42492088	NC_000019.9:g.42492088G>A	ClinGen:CA9467899	C0338488 Alternating hemiplegia of childhood;
NM_152296.5(ATP1A3):c.354C>T (p.Asp118=)	478	ATP1A3	Likely benign	-1	RCV003081744;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42492091	42492091		-
NM_152296.5(ATP1A3):c.339C>T (p.Asp113=)	478	ATP1A3	Likely benign	1555865976	RCV001461049;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42492106	42492106	42492106	-
NM_152296.5(ATP1A3):c.333C>T (p.Thr111=)	478	ATP1A3	Likely benign	782779392	RCV000644935;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42492112	42492112	19:g.42492112G>A	ClinGen:CA9467903	C1868681 128235 Dystonia 12;
NM_152296.5(ATP1A3):c.327G>A (p.Ala109=)	478	ATP1A3	Likely benign	781907306	RCV002093657;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42492118	42492118	42492118	-
NM_152296.5(ATP1A3):c.326C>T (p.Ala109Val)	478	ATP1A3	Uncertain significance	1568866568	RCV000693301\|RCV003126905;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|MedGen:CN517202	19	42492119	42492119	NC_000019.9:g.42492119G>A	-	C1868681 128235 Dystonia 12;
NM_152296.5(ATP1A3):c.324G>A (p.Gln108=)	478	ATP1A3	Likely benign	-1	RCV002863880;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42492121	42492121		-
NM_152296.5(ATP1A3):c.315C>T (p.Tyr105=)	478	ATP1A3	Likely benign	782717865	RCV000487559\|RCV001089215;	N	MedGen:C3661900\|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42492130	42492130	19:g.42492130G>A	ClinGen:CA9467906	CN517202 not provided;
NM_152296.5(ATP1A3):c.303C>T (p.Cys101=)	478	ATP1A3	Likely benign	781801187	RCV002177843;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42492142	42492142	42492142	-
NM_152296.5(ATP1A3):c.295A>G (p.Ile99Val)	478	ATP1A3	Uncertain significance	958239123	RCV001369659\|RCV003322887;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|MedGen:C3661900	19	42492150	42492150	42492150	-
NM_152296.5(ATP1A3):c.291G>A (p.Gly97=)	478	ATP1A3	Likely benign	-1	RCV003083348;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42492154	42492154		-
NM_152296.5(ATP1A3):c.288C>T (p.Ile96=)	478	ATP1A3	Benign/Likely benign	142806181	RCV000347402\|RCV000406454\|RCV001527987\|RCV002259888\|RCV002259889;	N	MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820, Orphanet:2131\|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|MedGen:C3661900\|MONDO:MONDO:0011038,MedGen:C1832466,OMIM:601338, Orphanet:1171\|MONDO:MONDO:0030473,MedGen:C5562018,OMIM:619606	19	42492157	42492157	NC_000019.9:g.42492157G>A	ClinGen:CA9467910	C0338488 Alternating hemiplegia of childhood;
NM_152296.5(ATP1A3):c.281T>C (p.Leu94Pro)	478	ATP1A3	Pathogenic	-1	RCV002795956;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42492164	42492164	NC_000019.9:g.42492164A>G	-
NM_152296.5(ATP1A3):c.274A>G (p.Ile92Val)	478	ATP1A3	Uncertain significance	933392084	RCV001071677\|RCV003396729;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|MedGen:CN169374	19	42492171	42492171	19:g.42492171T>C	-
NM_152296.5(ATP1A3):c.270C>T (p.Phe90=)	478	ATP1A3	Uncertain significance	782539594	RCV000307876\|RCV000362253;	N	MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820, Orphanet:2131\|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42492175	42492175	NC_000019.9:g.42492175G>A	ClinGen:CA9467911	C0338488 Alternating hemiplegia of childhood;
NM_152296.5(ATP1A3):c.266G>C (p.Gly89Ala)	478	ATP1A3	Pathogenic/Likely pathogenic	1599725621	RCV000995500\|RCV003442137;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|MedGen:C3661900	19	42492179	42492179	19:g.42492179C>G	-
NM_152296.5(ATP1A3):c.264G>A (p.Gly88=)	478	ATP1A3	Likely benign	782670995	RCV001485973;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42492181	42492181	42492181	-
NM_152296.5(ATP1A3):c.258C>T (p.Leu86=)	478	ATP1A3	Likely benign	-1	RCV002694835;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42492187	42492187		-
NM_152296.5(ATP1A3):c.251G>A (p.Arg84Gln)	478	ATP1A3	Uncertain significance	782194114	RCV001238347;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42492194	42492194	19:g.42492194C>T	-
NM_152296.5(ATP1A3):c.250C>G (p.Arg84Gly)	478	ATP1A3	Likely benign	1555866028	RCV000549638;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42492195	42492195	NC_000019.9:g.42492195G>C	ClinGen:CA406056520	C1868681 128235 Dystonia 12;
NM_152296.5(ATP1A3):c.243G>A (p.Lys81=)	478	ATP1A3	Likely benign	782433549	RCV000960721\|RCV001563135;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|MedGen:CN517202	19	42492202	42492202	19:g.42492202C>T	-
NM_152296.5(ATP1A3):c.227C>T (p.Thr76Ile)	478	ATP1A3	Uncertain significance	2145983246	RCV001955386;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42492218	42492218	42492218	-
NM_152296.5(ATP1A3):c.219G>A (p.Pro73=)	478	ATP1A3	Likely benign	567997976	RCV002138527\|RCV003418396;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|MedGen:C3661900	19	42492226	42492226	42492226	-
NM_152296.5(ATP1A3):c.213G>T (p.Thr71=)	478	ATP1A3	Likely benign	1555866049	RCV001482821;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42492232	42492232	19:g.42492232C>A	-
NM_152296.5(ATP1A3):c.213G>A (p.Thr71=)	478	ATP1A3	Likely benign	1555866049	RCV002166540;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42492232	42492232	42492232	-
NM_152296.5(ATP1A3):c.207A>T (p.Ala69=)	478	ATP1A3	Benign/Likely benign	200616931	RCV000267596\|RCV000303923\|RCV001529296\|RCV001706533\|RCV002259890\|RCV002259891;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820, Orphanet:2131\|MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0011038,MedGen:C1832466,OMIM:601338, Orphanet:1171\|MONDO:MONDO:0030473,MedGen:C556201	19	42492238	42492238	NC_000019.9:g.42492238T>A	ClinGen:CA9467920	C0338488 Alternating hemiplegia of childhood;
NM_152296.5(ATP1A3):c.204C>T (p.Asn68=)	478	ATP1A3	Likely benign	148043407	RCV000871819;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42492241	42492241	19:g.42492241G>A	-
NM_152296.5(ATP1A3):c.201T>C (p.Pro67=)	478	ATP1A3	Likely benign	782752541	RCV002104483;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42492244	42492244	42492244	-
NM_152296.5(ATP1A3):c.196G>A (p.Gly66Arg)	478	ATP1A3	Uncertain significance	2145983320	RCV001904674;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42492249	42492249	42492249	-
NM_152296.5(ATP1A3):c.192G>A (p.Arg64=)	478	ATP1A3	Benign/Likely benign	146053862	RCV000536727\|RCV001653903\|RCV002259999\|RCV002259998\|RCV002259997\|RCV002506354;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|MedGen:C3661900\|MONDO:MONDO:0030473,MedGen:C5562018,OMIM:619606\|MONDO:MONDO:0011038,MedGen:C1832466,OMIM:601338, Orphanet:1171\|MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820, Orphanet:2131\|MO	19	42492253	42492253	19:g.42492253C>T	ClinGen:CA9467925	C1868681 128235 Dystonia 12;
NM_152296.5(ATP1A3):c.191G>A (p.Arg64Gln)	478	ATP1A3	Conflicting interpretations of pathogenicity	201573515	RCV000560382\|RCV001662571\|RCV003156051\|RCV003302853\|RCV003317269;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|MedGen:CN517202\|MONDO:MONDO:0030473,MedGen:C5562018,OMIM:619606\|MeSH:D030342,MedGen:C0950123\|MedGen:CN169374	19	42492254	42492254	NC_000019.9:g.42492254C>T	ClinGen:CA9467926	C1868681 128235 Dystonia 12;
NM_152296.5(ATP1A3):c.190C>T (p.Arg64Trp)	478	ATP1A3	Uncertain significance	1203339638	RCV001907917;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42492255	42492255	42492255	-
NM_152296.5(ATP1A3):c.165C>T (p.His55=)	478	ATP1A3	Likely benign	781881410	RCV001417834;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42492280	42492280	42492280	-
NM_152296.5(ATP1A3):c.156T>C (p.Gly52=)	478	ATP1A3	Likely benign	1213410717	RCV001551092\|RCV002568981;	N	MedGen:C3661900\|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42492289	42492289	42492289	-
NM_152296.5(ATP1A3):c.154-5C>G	478	ATP1A3	Benign	191645384	RCV000264122\|RCV000325331\|RCV000358733\|RCV000710699\|RCV002259760\|RCV002259761;	N	MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820, Orphanet:2131\|MedGen:CN169374\|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|MedGen:C3661900\|MONDO:MONDO:0011038,MedGen:C1832466,OMIM:601338, Orphanet:1171\|MONDO:MONDO:0030473,MedGen:C556201	19	42492296	42492296	NC_000019.9:g.42492296G>C	ClinGen:CA9467928
NM_152296.5(ATP1A3):c.154-13C>G	478	ATP1A3	Likely benign	-1	RCV002606621;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42492304	42492304	NC_000019.9:g.42492304G>C	-
NM_152296.5(ATP1A3):c.154-13C>A	478	ATP1A3	Likely benign	-1	RCV002927556;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42492304	42492304	NC_000019.9:g.42492304G>T	-
NM_152296.5(ATP1A3):c.154-20G>A	478	ATP1A3	Likely benign	782526131	RCV002186966;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42492311	42492311	42492311	-
NM_152296.5(ATP1A3):c.154-20G>T	478	ATP1A3	Likely benign	782526131	RCV002108861;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42492311	42492311	42492311	-
NM_152296.5(ATP1A3):c.153+20T>C	478	ATP1A3	Likely benign	-1	RCV003051427;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42492450	42492450	NC_000019.9:g.42492450A>G	-
NM_152296.5(ATP1A3):c.153+7C>T	478	ATP1A3	Conflicting interpretations of pathogenicity	782082118	RCV000319208\|RCV000373996\|RCV000585257;	N	MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820, Orphanet:2131\|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|MedGen:C3661900	19	42492463	42492463	NC_000019.9:g.42492463G>A	ClinGen:CA9467945	C0338488 Alternating hemiplegia of childhood;
NM_152296.5(ATP1A3):c.147T>C (p.Cys49=)	478	ATP1A3	Benign	376960579	RCV000260622\|RCV000316480\|RCV001288804\|RCV001706534\|RCV002259892\|RCV002259893;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820, Orphanet:2131\|MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0011038,MedGen:C1832466,OMIM:601338, Orphanet:1171\|MONDO:MONDO:0030473,MedGen:C556201	19	42492476	42492476	NC_000019.9:g.42492476A>G	ClinGen:CA9467946	C0338488 Alternating hemiplegia of childhood;
NM_152296.5(ATP1A3):c.128G>A (p.Arg43Gln)	478	ATP1A3	Uncertain significance	782453913	RCV001048072\|RCV003425895;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|MedGen:C3661900	19	42492495	42492495	19:g.42492495C>T	-
NM_152296.5(ATP1A3):c.124T>C (p.Cys42Arg)	478	ATP1A3	Uncertain significance	2075305399	RCV001198824;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42492499	42492499	19:g.42492499A>G	-
NM_152296.5(ATP1A3):c.111A>C (p.Ser37=)	478	ATP1A3	Likely benign	1555866210	RCV001407223;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42492512	42492512	42492512	-
NM_152296.5(ATP1A3):c.108G>A (p.Met36Ile)	478	ATP1A3	Uncertain significance	1599725994	RCV000990224;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42492515	42492515	19:g.42492515C>T	-
NM_152296.5(ATP1A3):c.99G>A (p.Glu33=)	478	ATP1A3	Likely benign	35429923	RCV001491143;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42492524	42492524	42492524	-
NM_152296.5(ATP1A3):c.94-5C>T	478	ATP1A3	Likely benign	1599726017	RCV001489765;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42492534	42492534	19:g.42492534G>A	-
NM_152296.5(ATP1A3):c.94-16A>C	478	ATP1A3	Likely benign	782612422	RCV002071585;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42492545	42492545	42492545	-
NM_152296.5(ATP1A3):c.93+20C>T	478	ATP1A3	Likely benign	-1	RCV003079597;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42492608	42492608	NC_000019.9:g.42492608G>A	-
NM_152296.5(ATP1A3):c.93+12_93+15dup	478	ATP1A3	Likely benign	-1	RCV003061013;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42492612	42492613	NC_000019.9:g.42492614_42492617dup	-
NM_152296.5(ATP1A3):c.93+10G>A	478	ATP1A3	Likely benign	377023306	RCV002154484;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42492618	42492618	42492618	-
NM_152296.5(ATP1A3):c.93+9C>T	478	ATP1A3	Likely benign	369684003	RCV001477253;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42492619	42492619	19:g.42492619G>A	-
NM_152296.5(ATP1A3):c.93+5G>A	478	ATP1A3	Uncertain significance	372694213	RCV001240206\|RCV002265015;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|MedGen:C3661900	19	42492623	42492623	19:g.42492623C>T	-
NM_152296.5(ATP1A3):c.93+4A>G	478	ATP1A3	Uncertain significance	782545260	RCV001365327;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42492624	42492624	42492624	-
NM_152296.5(ATP1A3):c.92T>C (p.Met31Thr)	478	ATP1A3	Uncertain significance	-1	RCV002942921;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42492629	42492629	NC_000019.9:g.42492629A>G	-
NM_152296.5(ATP1A3):c.69T>C (p.Asp23=)	478	ATP1A3	Likely benign	1178257393	RCV001407723;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42492652	42492652	42492652	-
NM_152296.5(ATP1A3):c.63C>T (p.Asp21=)	478	ATP1A3	Likely benign	367930558	RCV001489691;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42492658	42492658	42492658	-
NM_152296.5(ATP1A3):c.59G>A (p.Arg20Gln)	478	ATP1A3	Likely benign	949169436	RCV000690433;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42492662	42492662	NC_000019.9:g.42492662C>T	-	C1868681 128235 Dystonia 12;
NM_152296.5(ATP1A3):c.55C>T (p.Arg19Cys)	478	ATP1A3	Conflicting interpretations of pathogenicity	782229302	RCV000803350\|RCV001128681\|RCV001777177;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820, Orphanet:2131\|MedGen:CN517202	19	42492666	42492666	19:g.42492666G>A	OMIM:182350.0022
NM_152296.5(ATP1A3):c.54G>C (p.Glu18Asp)	478	ATP1A3	Uncertain significance	541121307	RCV001350323;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42492667	42492667	42492667	-
NM_152296.5(ATP1A3):c.54G>A (p.Glu18=)	478	ATP1A3	Likely benign	541121307	RCV001494094;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42492667	42492667	42492667	-
NM_152296.5(ATP1A3):c.46G>A (p.Gly16Ser)	478	ATP1A3	Uncertain significance	559227917	RCV001373837\|RCV002550180;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|MeSH:D030342,MedGen:C0950123	19	42492675	42492675	42492675	-
NM_152296.5(ATP1A3):c.36GAA[1] (p.Lys13del)	478	ATP1A3	Uncertain significance	-1	RCV002591529;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42492680	42492682	NC_000019.9:g.42492682CTT[1]	-
NM_152296.5(ATP1A3):c.18T>C (p.Asp6=)	478	ATP1A3	Likely benign	-1	RCV002967732;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42492703	42492703		-
NM_152296.5(ATP1A3):c.15A>G (p.Lys5=)	478	ATP1A3	Uncertain significance	886054476	RCV000295277\|RCV000389712;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820, Orphanet:2131	19	42492706	42492706	NC_000019.9:g.42492706T>C	ClinGen:CA10652495	C0338488 Alternating hemiplegia of childhood;
NM_152296.5(ATP1A3):c.13A>G (p.Lys5Glu)	478	ATP1A3	Uncertain significance	2145984238	RCV001885552;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42492708	42492708	42492708	-
NM_152296.5(ATP1A3):c.8A>G (p.Asp3Gly)	478	ATP1A3	Uncertain significance	-1	RCV003121704;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42492713	42492713	NC_000019.9:g.42492713T>C	-
NM_152296.5(ATP1A3):c.7-4G>A	478	ATP1A3	Likely benign	375990668	RCV000893850\|RCV002264058;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|MedGen:C3661900	19	42492718	42492718	19:g.42492718C>T	-
NM_152296.5(ATP1A3):c.7-6T>A	478	ATP1A3	Likely benign	-1	RCV002913228;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42492720	42492720	NC_000019.9:g.42492720A>T	-
NM_152296.5(ATP1A3):c.7-12G>A	478	ATP1A3	Likely benign	369150627	RCV002207460;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42492726	42492726	42492726	-
NM_152296.5(ATP1A3):c.7-13C>T	478	ATP1A3	Uncertain significance	-1	RCV003062369;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42492727	42492727	NC_000019.9:g.42492727G>A	-
NM_152296.5(ATP1A3):c.7-17G>A	478	ATP1A3	Likely benign	201253471	RCV002191237;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42492731	42492731	42492731	-
NM_152296.5(ATP1A3):c.7-18C>T	478	ATP1A3	Likely benign	782562097	RCV001939336;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42492732	42492732	42492732	-
NM_152296.5(ATP1A3):c.7-18C>G	478	ATP1A3	Likely benign	782562097	RCV002177557;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42492732	42492732	42492732	-
NM_152296.5(ATP1A3):c.6+17C>A	478	ATP1A3	Likely benign	782567963	RCV002148803;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42498206	42498206	42498206	-
NM_152296.5(ATP1A3):c.6+14C>G	478	ATP1A3	Likely benign	-1	RCV002629827;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42498209	42498209	NC_000019.9:g.42498209G>C	-
NM_152296.5(ATP1A3):c.6+7G>A	478	ATP1A3	Likely benign	2145995390	RCV001449008;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42498216	42498216	42498216	-
NM_152296.5(ATP1A3):c.6+3A>G	478	ATP1A3	Benign/Likely benign	369853936	RCV000350142\|RCV000385973\|RCV000518390\|RCV000858874\|RCV002259894\|RCV002259895\|RCV003243084;	N	MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820, Orphanet:2131\|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0011038,MedGen:C1832466,OMIM:601338, Orphanet:1171\|MONDO:MONDO:0030473,MedGen:C556201	19	42498220	42498220	NC_000019.9:g.42498220T>C	ClinGen:CA9468024	C0338488 Alternating hemiplegia of childhood;
NM_152296.5(ATP1A3):c.4G>C (p.Gly2Arg)	478	ATP1A3	Uncertain significance	2145995411	RCV002038907;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	19	42498225	42498225	42498225	-
NM_152296.5(ATP1A3):c.-64A>G	478	ATP1A3	Uncertain significance	373531937	RCV000291682\|RCV000346477\|RCV002480168;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820, Orphanet:2131\|MONDO:MONDO:0011038,MedGen:C1832466,OMIM:601338, Orphanet:1171; MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517; MON	19	42498292	42498292	NC_000019.9:g.42498292T>C	ClinGen:CA10652497	C0338488 Alternating hemiplegia of childhood;
NM_152296.5(ATP1A3):c.-130GACG[3]	478	ATP1A3	Uncertain significance	879996553	RCV000307303\|RCV000402858\|RCV002480169;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|MONDO:MONDO:0016241,MedGen:C0338488,OMIM:PS104290, Orphanet:2131\|MONDO:MONDO:0011038,MedGen:C1832466,OMIM:601338, Orphanet:1171; MONDO:MONDO:0030473,MedGen:C5562018,OMIM:619606; MONDO:MONDO:0007	19	42498343	42498346	NC_000019.9:g.42498346CCGT[3]	ClinGen:CA10652498	C0338488 Alternating hemiplegia of childhood;
NM_152296.5(ATP1A3):c.-148T>G	478	ATP1A3	Uncertain significance	769525784	RCV000343433\|RCV000404843\|RCV002487454;	N	MONDO:MONDO:0013900,MedGen:C3553788,OMIM:614820, Orphanet:2131\|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|MONDO:MONDO:0011038,MedGen:C1832466,OMIM:601338, Orphanet:1171; MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517; MON	19	42498376	42498376	NC_000019.9:g.42498376A>C	ClinGen:CA10642901	C0338488 Alternating hemiplegia of childhood;
NM_152296.4(ATP1A3):c.-186G>A	478	ATP1A3	Uncertain significance	886054478	RCV000303872\|RCV000358401;	N	MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517\|MONDO:MONDO:0016241,MedGen:C0338488,OMIM:PS104290, Orphanet:2131	19	42498414	42498414	NC_000019.9:g.42498414C>T	ClinGen:CA10652500	C0338488 Alternating hemiplegia of childhood;
NM_001040142.2(SCN2A):c.3972G>A (p.Arg1324=)	6326	SCN2A	Likely pathogenic	1057518117	RCV000413810\|RCV001838624;	N	MedGen:CN517202\|MONDO:MONDO:0007496,MedGen:C1868681,OMIM:128235, Orphanet:71517	2	166229857	166229857	2:g.166229857G>A	ClinGen:CA16042388	CN517202 not provided;

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