NM_152296.5(ATP1A3):c.2267G>A (p.Arg756His)Pathogenic
Dystonia 12|not provided|Alternating hemiplegia of childhood 2|Inborn genetic diseases|Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome|ATP1A3-associated neurological disorder|Developmental and epileptic encephalopathy 99|ATP1A3-related disorder
β
β
ββ2025β Residue 756
NM_152296.5(ATP1A3):c.823G>C (p.Ala275Pro)Likely pathogenic
not provided|Inborn genetic diseases
β
β
ββ2025β Residue 275
NM_152296.5(ATP1A3):c.2401G>A (p.Asp801Asn)Pathogenic
Alternating hemiplegia of childhood 2|not provided|Alternating hemiplegia of childhood 2;Dystonia 12;Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome|Dystonia 12|Inborn genetic diseases|Oculogyric crisis;Dystonic disorder;Tetraparesis|ATP1A3-related disorder|Developmental and epileptic encephalopathy 99|Developmental and epileptic encephalopathy 99;Alternating hemiplegia of childhood 2;Dystonia 12|Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
β
β
ββ2025β Residue 801
NM_152296.5(ATP1A3):c.358-1G>ALikely pathogenic
ATP1A3-associated neurological disorder|Dystonia 12
β
β
ββ2025
NM_152296.5(ATP1A3):c.946G>A (p.Gly316Ser)Pathogenic
Dystonia 12|ATP1A3-related disorder|not provided
β
β
ββ2025β Residue 316
NM_152296.5(ATP1A3):c.385G>A (p.Val129Met)Pathogenic
Juvenile onset psychosis|not provided|Dystonia 12|Alternating hemiplegia of childhood 2|ATP1A3-related disorder
β
β
ββ2025β Residue 129
NM_152296.5(ATP1A3):c.2600G>A (p.Gly867Asp)Pathogenic
not provided|Dystonia 12|Developmental and epileptic encephalopathy 99
β
β
ββ2025β Residue 867
NM_152296.5(ATP1A3):c.2443G>A (p.Glu815Lys)Pathogenic
Alternating hemiplegia of childhood 2|not provided|Dystonia 12|Oculogyric crisis;Global developmental delay;Hemiplegia|Alternating hemiplegia of childhood 2;Dystonia 12;Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome|not specified|Inborn genetic diseases|Developmental and epileptic encephalopathy 99|Seizure;Dyskinesia;Dystonic disorder;Neurodevelopmental delay|Seizure
β
β
ββ2025β Residue 815
NM_152296.5(ATP1A3):c.2839G>A (p.Gly947Arg)Pathogenic
Alternating hemiplegia of childhood 2|Epilepsy;Hemiplegia|not provided|Dystonia 12|Alternating hemiplegia of childhood 2;Dystonia 12;Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome|ATP1A3-related disorder
β
β
ββ2025β Residue 947
NM_152296.5(ATP1A3):c.2116G>C (p.Gly706Arg)Pathogenic
Dystonia 12|Seizure|Inborn genetic diseases
β
β
ββ2025β Residue 706
NM_152296.5(ATP1A3):c.2224G>T (p.Asp742Tyr)Pathogenic
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome|Dystonia 12
β
β
ββ2025β Residue 742
NM_152296.5(ATP1A3):c.2452G>A (p.Glu818Lys)Pathogenic
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome|Dystonia 12|Inborn genetic diseases|Alternating hemiplegia of childhood 2|not provided
β
β
ββ2025β Residue 818
NM_152296.5(ATP1A3):c.977T>G (p.Leu326Arg)Pathogenic
not provided|Dystonia 12
β
β
ββ2025β Residue 326
NM_152296.5(ATP1A3):c.2318A>G (p.Asn773Ser)Pathogenic
Alternating hemiplegia of childhood 2|not provided|Dystonia 12
β
β
ββ2025β Residue 773
NM_152296.5(ATP1A3):c.410_412del (p.Ser137del)Pathogenic
not provided|Dystonia 12|ATP1A3-associated neurological disorder
β
β
ββ2025β Residue 137
NM_152296.5(ATP1A3):c.2324C>T (p.Pro775Leu)Pathogenic
not provided|Dystonia 12|Inborn genetic diseases|Developmental and epileptic encephalopathy 99|ATP1A3-related disorder
β
β
ββ2025β Residue 775
NM_152296.5(ATP1A3):c.2752GTC[1] (p.Val919del)Pathogenic
Dystonia 12|Developmental and epileptic encephalopathy 99
β
β
ββ2025β Residue 919
NM_152296.5(ATP1A3):c.2767G>A (p.Asp923Asn)Pathogenic
Dystonia 12|Alternating hemiplegia of childhood 2|Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome;Dystonia 12;Alternating hemiplegia of childhood 2|not provided|ATP1A3-associated neurological disorder|Seizure|ATP1A3-related disorder
β
β
ββ2025β Residue 923
NM_152296.5(ATP1A3):c.1838C>T (p.Thr613Met)Pathogenic
Dystonia 12|not provided|Alternating hemiplegia of childhood 2|ATP1A3-related disorder
β
β
ββ2025β Residue 613
NM_152296.5(ATP1A3):c.967C>T (p.Pro323Ser)Pathogenic
not provided|Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome|Dystonia 12
β
β
ββ2025β Residue 323