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Links from MedGen

Items: 1 to 100 of 140

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATP1A3
(I691L +2 more)
Single nucleotide variant
(missense variant)
Alternating hemiplegia of childhood 2
GUncertain significance
ATP1A3
(S976G +2 more)
Single nucleotide variant
(missense variant)
Alternating hemiplegia of childhood 2
GUncertain significance
ATP1A3
(S10L +2 more)
Single nucleotide variant
(missense variant)
Alternating hemiplegia of childhood 2
GUncertain significance
ATP1A3
(L371V +2 more)
Single nucleotide variant
(missense variant)
Dystonia 12
+1 more
GUncertain significance
ATP1A3
(T360R +2 more)
Single nucleotide variant
(missense variant)
Alternating hemiplegia of childhood 2
+1 more
GPathogenic/Likely pathogenic
ATP1A3
(A843D +2 more)
Single nucleotide variant
(missense variant)
Alternating hemiplegia of childhood 2
GLikely pathogenic
ATP1A3
(R756S +2 more)
Single nucleotide variant
(missense variant)
Alternating hemiplegia of childhood 2
GLikely pathogenic
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
(A636T +2 more)
Single nucleotide variant
(missense variant)
Dystonia 12
+3 more
GConflicting classifications of pathogenicity
ATP1A3
(R259H +2 more)
Single nucleotide variant
(missense variant)
Alternating hemiplegia of childhood 2
+1 more
GUncertain significance
ATP1A3
(I363T +2 more)
Single nucleotide variant
(missense variant)
Dystonia 12
GPathogenic
ATP1A3
(G803S +2 more)
Single nucleotide variant
(missense variant)
Alternating hemiplegia of childhood 2
GPathogenic
ATP1A3
(E389K +2 more)
Single nucleotide variant
(missense variant)
Alternating hemiplegia of childhood 2
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
(Q933R +2 more)
Single nucleotide variant
(missense variant)
Alternating hemiplegia of childhood 2
GLikely pathogenic
ATP1A3
(C364R +2 more)
Single nucleotide variant
(missense variant)
Alternating hemiplegia of childhood 2
GLikely pathogenic
ATP1A3
(I318M +2 more)
Single nucleotide variant
(missense variant)
Dystonia 12
+1 more
GPathogenic
ATP1A3
(R597W +2 more)
Single nucleotide variant
(missense variant)
Alternating hemiplegia of childhood 2
+1 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
(intron variant)
Alternating hemiplegia of childhood 2
+1 more
GUncertain significance
ATP1A3
(E681G +2 more)
Single nucleotide variant
(missense variant)
Dystonia 12
+1 more
GUncertain significance
ATP1A3
Single nucleotide variant
(synonymous variant)
Alternating hemiplegia of childhood 2
+1 more
GUncertain significance
ATP1A3
Single nucleotide variant
(intron variant)
Dystonia 12
+1 more
GConflicting classifications of pathogenicity
ATP1A3
Single nucleotide variant
(3 prime UTR variant)
Alternating hemiplegia of childhood 2
+1 more
GUncertain significance
ATP1A3
Single nucleotide variant
(intron variant)
Alternating hemiplegia of childhood 2
+1 more
GUncertain significance
ATP1A3
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy 99
+3 more
GBenign/Likely benign
ATP1A3
Single nucleotide variant
(3 prime UTR variant)
Alternating hemiplegia of childhood 2
+1 more
GUncertain significance
ATP1A3
Single nucleotide variant
(3 prime UTR variant)
Alternating hemiplegia of childhood 2
+1 more
GUncertain significance
ATP1A3
Single nucleotide variant
(synonymous variant)
Alternating hemiplegia of childhood 2
+1 more
GConflicting classifications of pathogenicity
ATP1A3
Single nucleotide variant
(intron variant)
Alternating hemiplegia of childhood 2
+1 more
GUncertain significance
ATP1A3
Single nucleotide variant
(intron variant)
Alternating hemiplegia of childhood 2
+1 more
GConflicting classifications of pathogenicity
ATP1A3
Single nucleotide variant
(3 prime UTR variant)
not provided
+4 more
GBenign
ATP1A3
(D609Y +2 more)
Single nucleotide variant
(missense variant)
Alternating hemiplegia of childhood 2
GConflicting classifications of pathogenicity
ATP1A3
(T331P +2 more)
Single nucleotide variant
(missense variant)
Alternating hemiplegia of childhood 2
GLikely pathogenic
ATP1A3
(I612* +2 more)
Single nucleotide variant
(missense variant)
Alternating hemiplegia of childhood 2
GLikely pathogenic
ATP1A3
(A813V +2 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
ATP1A3
Single nucleotide variant
(synonymous variant)
Dystonia 12
+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)
Developmental and epileptic encephalopathy 99
+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)
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
+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
(R30C +2 more)
Single nucleotide variant
(missense variant)
Alternating hemiplegia of childhood 2
+1 more
GConflicting classifications of pathogenicity
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)
Dystonia 12
+2 more
GBenign/Likely 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
+5 more
GBenign
ATP1A3
Single nucleotide variant
(synonymous variant)
Dystonia 12
+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)
Developmental and epileptic encephalopathy 99
+5 more
GBenign/Likely benign
ATP1A3
Single nucleotide variant
(synonymous variant)
not provided
+4 more
GBenign/Likely benign
ATP1A3
Single nucleotide variant
(synonymous variant)
Dystonia 12
+2 more
GBenign/Likely benign
ATP1A3
(T335K +2 more)
Single nucleotide variant
(missense variant)
Alternating hemiplegia of childhood 2
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)
Alternating hemiplegia of childhood 2
+3 more
GBenign/Likely benign
ATP1A3
(V990I +2 more)
Single nucleotide variant
(missense variant)
Dystonia 12
+4 more
GUncertain significance
ATP1A3
(R463C +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+5 more
GConflicting classifications of pathogenicity
ATP1A3
(G706R +2 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy 99
+4 more
GConflicting classifications of pathogenicity
ATP1A3
Indel
(inframe_indel)
Alternating hemiplegia of childhood 2
GPathogenic
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)
Inborn genetic diseases
+7 more
GBenign/Likely benign
ATP1A3
Single nucleotide variant
(synonymous variant)
Dystonia 12
+1 more
GConflicting classifications of pathogenicity
ATP1A3
Single nucleotide variant
(synonymous variant)
not specified
+5 more
GBenign
ATP1A3
Single nucleotide variant
(intron variant)
Alternating hemiplegia of childhood 2
+2 more
GConflicting classifications of pathogenicity
ATP1A3
Single nucleotide variant
(synonymous variant)
not provided
+4 more
GBenign/Likely benign
ATP1A3
Single nucleotide variant
(synonymous variant)
Dystonia 12
+1 more
GConflicting classifications of pathogenicity
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)
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
+5 more
GBenign/Likely benign
ATP1A3
Single nucleotide variant
(intron variant)
Alternating hemiplegia of childhood 2
+1 more
GConflicting classifications of pathogenicity
ATP1A3
Single nucleotide variant
(intron variant)
Dystonia 12
+1 more
GUncertain significance
ATP1A3
Single nucleotide variant
(synonymous variant)
Dystonia 12
+3 more
GBenign/Likely benign
ATP1A3
Single nucleotide variant
(intron variant)
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
+5 more
GConflicting classifications of pathogenicity
ATP1A3
Single nucleotide variant
(synonymous variant)
Alternating hemiplegia of childhood 2
+1 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
(intron variant)
Alternating hemiplegia of childhood 2
+1 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
(synonymous variant)
not provided
+4 more
GBenign/Likely benign
ATP1A3
Single nucleotide variant
(synonymous variant)
not provided
+4 more
GBenign/Likely benign
ATP1A3
(N572D +2 more)
Single nucleotide variant
(missense variant)
Alternating hemiplegia of childhood 2
+1 more
GLikely benign
ATP1A3
Single nucleotide variant
(synonymous variant)
Dystonia 12
+1 more
GUncertain significance
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