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Links from MedGen

Items: 80

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATP1A3
(H547P +2 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy 99
GUncertain significance
ATP1A3
(G867V +2 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy 99
GUncertain significance
ATP1A3
Single nucleotide variant
(splice acceptor variant)
Developmental and epileptic encephalopathy 99
GPathogenic
ATP1A3
(I315F +2 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy 99
GLikely pathogenic
ATP1A3
(R827W +2 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy 99
GPathogenic
ATP1A3
(Q851P +2 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy 99
GPathogenic
ATP1A3
(F235L +2 more)
Single nucleotide variant
(missense variant)
Alternating hemiplegia of childhood 2
+3 more
GBenign
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
(W896R +2 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy 99
GLikely pathogenic
ATP1A3
(D805E +2 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy 99
GLikely pathogenic
ATP1A3
(A127V +2 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy 99
GLikely pathogenic
ATP1A3
(S361P +2 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy 99
GPathogenic
ATP1A3
(G316V +2 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy 99
GPathogenic
ATP1A3
(L292R +2 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy 99
GPathogenic
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
(L715P +2 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy 99
+1 more
GPathogenic/Likely pathogenic
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
Single nucleotide variant
(synonymous variant)
Alternating hemiplegia of childhood 2
+3 more
GLikely benign
ATP1A3
Single nucleotide variant
(synonymous variant)
Dystonia 12
+4 more
GBenign/Likely benign
ATP1A3
Single nucleotide variant
(synonymous variant)
Alternating hemiplegia of childhood 2
+4 more
GBenign
ATP1A3
Single nucleotide variant
(synonymous variant)
not provided
+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)
Dystonia 12
+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)
Dystonia 12
+5 more
GBenign/Likely benign
ATP1A3
Single nucleotide variant
(synonymous variant)
Dystonia 12
+3 more
GConflicting classifications of pathogenicity
ATP1A3
Single nucleotide variant
(intron variant)
ATP1A3-related disorder
+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)
Alternating hemiplegia of childhood 2
+4 more
GBenign/Likely benign
ATP1A3
Single nucleotide variant
(synonymous variant)
not provided
+5 more
GBenign
ATP1A3
Single nucleotide variant
(synonymous variant)
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
+5 more
GBenign/Likely benign
ATP1A3
(V885I +2 more)
Single nucleotide variant
(missense variant)
not provided
+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)
Alternating hemiplegia of childhood 2
+5 more
GBenign/Likely benign
ATP1A3
(R64Q +2 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
ATP1A3
Single nucleotide variant
(synonymous variant)
Alternating hemiplegia of childhood 2
+4 more
GBenign/Likely benign
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)
Developmental and epileptic encephalopathy 99
+4 more
GPathogenic/Likely pathogenic
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
ATP1A3, LOC130064543
Single nucleotide variant
(intron variant)
not provided
+7 more
GBenign/Likely benign
ATP1A3
Single nucleotide variant
(synonymous variant)
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
+5 more
GBenign
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)
Alternating hemiplegia of childhood 2
+5 more
GBenign/Likely 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)
Dystonia 12
+5 more
GBenign/Likely benign
ATP1A3
Single nucleotide variant
(synonymous variant)
Dystonia 12
+3 more
GBenign/Likely benign
ATP1A3
Single nucleotide variant
(intron variant)
Dystonia 12
+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)
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/Likely 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)
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)
Dystonia 12
+5 more
GBenign
ATP1A3
Single nucleotide variant
(intron variant)
Dystonia 12
+5 more
GBenign/Likely benign
ATP1A3
Single nucleotide variant
(synonymous variant)
Dystonia 12
+6 more
GBenign
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)
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
+3 more
GBenign/Likely benign
ATP1A3
Single nucleotide variant
(3 prime UTR variant)
Dystonia 12
+4 more
GBenign/Likely benign
ATP1A3
Single nucleotide variant
(3 prime UTR variant)
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
+4 more
GBenign/Likely benign
ATP1A3
Single nucleotide variant
(intron variant)
not provided
+5 more
GBenign
ATP1A3
(P775L +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
ATP1A3
Single nucleotide variant
(synonymous variant)
Alternating hemiplegia of childhood 2
+6 more
GBenign
ATP1A3
(E815K +2 more)
Single nucleotide variant
(missense variant)
not provided
+13 more
GPathogenic
ATP1A3
(D801N +2 more)
Single nucleotide variant
(missense variant)
Alternating hemiplegia of childhood 2
+5 more
GPathogenic
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