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Links from MedGen

Items: 88

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATP1A3
(G270S +2 more)
Single nucleotide variant
(missense variant)
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
GLikely benign
ATP1A3
(D220V +2 more)
Single nucleotide variant
(missense variant)
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
GUncertain significance
ATP1A3
(L948R +2 more)
Single nucleotide variant
(missense variant)
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
GUncertain significance
ATP1A3
(G100C +2 more)
Single nucleotide variant
(missense variant)
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
GLikely pathogenic
ATP1A3
(V917L +2 more)
Single nucleotide variant
(missense variant)
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
GUncertain significance
ATP1A3
(F235L +2 more)
Single nucleotide variant
(missense variant)
Alternating hemiplegia of childhood 2
+3 more
GBenign
ATP1A3
(E517Q +2 more)
Single nucleotide variant
(missense variant)
Dystonia 12
+2 more
GConflicting classifications of pathogenicity
ATP1A3
Single nucleotide variant
(synonymous variant)
Dystonia 12
+3 more
GLikely benign
ATP1A3
Single nucleotide variant
(intron variant)
Dystonia 12
+3 more
GLikely benign
ATP1A3
Single nucleotide variant
(intron variant)
Dystonia 12
+3 more
GLikely benign
ATP1A3
(A636T +2 more)
Single nucleotide variant
(missense variant)
Dystonia 12
+3 more
GConflicting classifications of pathogenicity
ATP1A3
(Q851R +2 more)
Single nucleotide variant
(missense variant)
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
+1 more
GLikely pathogenic
ATP1A3
Single nucleotide variant
(intron variant)
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
+4 more
GBenign
ATP1A3
Single nucleotide variant
(intron variant)
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
+4 more
GBenign
ATP1A3
Single nucleotide variant
(intron variant)
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
+4 more
GBenign
ATP1A3
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy 99
+3 more
GLikely benign
ATP1A3
Single nucleotide variant
(synonymous variant)
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
+3 more
GLikely benign
ATP1A3
(A468S +2 more)
Single nucleotide variant
(missense variant)
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
GUncertain significance
ATP1A3
(T771I +2 more)
Single nucleotide variant
(missense variant)
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
GPathogenic
ATP1A3
Single nucleotide variant
(synonymous variant)
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
+3 more
GBenign/Likely benign
ATP1A3
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy 99
+3 more
GBenign/Likely benign
ATP1A3
Single nucleotide variant
(3 prime UTR variant)
not provided
+4 more
GBenign
ATP1A3
(G859A +2 more)
Single nucleotide variant
(missense variant)
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
GLikely pathogenic
ATP1A3
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy 99
+3 more
GLikely benign
ATP1A3
Single nucleotide variant
(synonymous variant)
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
+4 more
GBenign/Likely benign
ATP1A3
Single nucleotide variant
(synonymous variant)
not provided
+4 more
GBenign
ATP1A3
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy 99
+4 more
GBenign/Likely benign
ATP1A3
Single nucleotide variant
(synonymous variant)
Alternating hemiplegia of childhood 2
+4 more
GBenign/Likely benign
ATP1A3
Single nucleotide variant
(synonymous variant)
not provided
+5 more
GBenign/Likely benign
ATP1A3
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy 99
+3 more
GBenign/Likely benign
ATP1A3
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy 99
+4 more
GBenign
ATP1A3
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy 99
+4 more
GLikely benign
ATP1A3
Single nucleotide variant
(intron variant)
Inborn genetic diseases
+5 more
GBenign/Likely benign
ATP1A3
(G947W +2 more)
Single nucleotide variant
(missense variant)
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
+2 more
GPathogenic/Likely pathogenic
ATP1A3
Single nucleotide variant
(synonymous variant)
Dystonia 12
+3 more
GConflicting classifications of pathogenicity
ATP1A3
Single nucleotide variant
(intron variant)
Dystonia 12
+4 more
GConflicting classifications of pathogenicity
ATP1A3
Single nucleotide variant
(synonymous variant)
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
+4 more
GBenign
ATP1A3
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy 99
+4 more
GBenign/Likely benign
ATP1A3
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy 99
+5 more
GBenign
ATP1A3
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy 99
+5 more
GBenign/Likely benign
ATP1A3
(V885I +2 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy 99
+5 more
GConflicting classifications of pathogenicity
ATP1A3
Single nucleotide variant
(synonymous variant)
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
+3 more
GBenign/Likely benign
ATP1A3
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy 99
+5 more
GBenign/Likely benign
ATP1A3
Single nucleotide variant
(synonymous variant)
not provided
+4 more
GBenign/Likely benign
ATP1A3
(D742Y +2 more)
Single nucleotide variant
(missense variant)
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
GLikely pathogenic
ATP1A3
(M154V +2 more)
Single nucleotide variant
(missense variant)
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
GLikely pathogenic
ATP1A3
(R756C +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GPathogenic/Likely pathogenic
ATP1A3
Single nucleotide variant
(intron variant)
Dystonia 12
+5 more
GBenign/Likely benign
ATP1A3
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy 99
+3 more
GBenign/Likely benign
ATP1A3
(V990I +2 more)
Single nucleotide variant
(missense variant)
Dystonia 12
+4 more
GUncertain significance
ATP1A3
(G706R +2 more)
Single nucleotide variant
(missense variant)
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
+3 more
GConflicting classifications of pathogenicity
ATP1A3, LOC130064543
Single nucleotide variant
(5 prime UTR variant)
Alternating hemiplegia of childhood 2
+3 more
GUncertain significance
ATP1A3, LOC130064543
Microsatellite
(5 prime UTR variant)
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
+4 more
GUncertain significance
ATP1A3, LOC130064543
Single nucleotide variant
(5 prime UTR variant)
Dystonia 12
+3 more
GUncertain significance
LOC130064543, ATP1A3
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy 99
+7 more
GBenign/Likely benign
ATP1A3
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy 99
+5 more
GBenign
ATP1A3
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy 99
+4 more
GBenign/Likely benign
ATP1A3
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy 99
+5 more
GBenign/Likely benign
ATP1A3
Single nucleotide variant
(synonymous variant)
Alternating hemiplegia of childhood 2
+4 more
GBenign/Likely benign
ATP1A3
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy 99
+5 more
GBenign/Likely benign
ATP1A3
Single nucleotide variant
(synonymous variant)
Dystonia 12
+3 more
GBenign/Likely benign
ATP1A3
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy 99
+5 more
GConflicting classifications of pathogenicity
ATP1A3
Single nucleotide variant
(intron variant)
Alternating hemiplegia of childhood 2
+3 more
GBenign/Likely benign
ATP1A3
Single nucleotide variant
(synonymous variant)
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
+4 more
GBenign
ATP1A3
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy 99
+4 more
GBenign/Likely benign
ATP1A3
Single nucleotide variant
(synonymous variant)
not provided
+4 more
GBenign/Likely benign
ATP1A3
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy 99
+4 more
GBenign/Likely benign
ATP1A3
Single nucleotide variant
(synonymous variant)
Alternating hemiplegia of childhood 2
+3 more
GBenign/Likely benign
ATP1A3
Single nucleotide variant
(intron variant)
not provided
+4 more
GBenign/Likely benign
ATP1A3
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy 99
+5 more
GBenign
ATP1A3
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy 99
+5 more
GBenign/Likely benign
ATP1A3
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy 99
+6 more
GBenign
ATP1A3
Single nucleotide variant
(synonymous variant)
Dystonia 12
+4 more
GBenign
ATP1A3
Single nucleotide variant
(synonymous variant)
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
+3 more
GBenign/Likely benign
ATP1A3
Single nucleotide variant
(3 prime UTR variant)
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
+3 more
GBenign
ATP1A3
Single nucleotide variant
(3 prime UTR variant)
Dystonia 12
+4 more
GBenign/Likely benign
ATP1A3
Single nucleotide variant
(3 prime UTR variant)
Developmental and epileptic encephalopathy 99
+4 more
GBenign/Likely benign
ATP1A3
Single nucleotide variant
(intron variant)
not specified
+5 more
GBenign
ATP1A3
(P323S +2 more)
Single nucleotide variant
(missense variant)
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
+2 more
GPathogenic/Likely pathogenic
ATP1A3
(G325D +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
ATP1A3
(R756H +2 more)
Single nucleotide variant
(missense variant)
ATP1A3-associated neurological disorder
+6 more
GPathogenic/Likely pathogenic
ATP1A3
Single nucleotide variant
(synonymous variant)
Alternating hemiplegia of childhood 2
+4 more
GBenign/Likely benign
ATP1A3
Single nucleotide variant
(synonymous variant)
Dystonia 12
+6 more
GBenign
ATP1A3
(E818K +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GPathogenic
ATP1A3
(G947R +2 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GPathogenic
ATP1A3
(E815K +2 more)
Single nucleotide variant
(missense variant)
Seizure
+13 more
GPathogenic
ATP1A3
(D801N +2 more)
Single nucleotide variant
(missense variant)
not provided
+6 more
GPathogenic
ATP1A3
(D923N +2 more)
Single nucleotide variant
(missense variant)
ATP1A3-associated neurological disorder
+4 more
GPathogenic
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