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Links from MedGen

Items: 82

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATP1A2
(C341Y)
Single nucleotide variant
(missense variant)
Migraine, familial hemiplegic, 2
+1 more
GLikely pathogenic
ATP1A2
(D470fs)
Microsatellite
(frameshift variant)
Developmental and epileptic encephalopathy 98
GLikely pathogenic
ATP1A2
(P796L)
Single nucleotide variant
(missense variant)
Familial hemiplegic migraine
+1 more
GUncertain significance
ATP1A2
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy 98
+4 more
GBenign
ATP1A2
Single nucleotide variant
(intron variant)
Migraine, familial hemiplegic, 2
+4 more
GBenign
ATP1A2
Single nucleotide variant
(intron variant)
not provided
+4 more
GBenign
ATP1A2
Single nucleotide variant
(intron variant)
Migraine, familial hemiplegic, 2
+4 more
GBenign
ATP1A2
Single nucleotide variant
(intron variant)
Migraine, familial hemiplegic, 2
+4 more
GBenign
ATP1A2, LOC126805890
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+7 more
GBenign/Likely benign
ATP1A2
(R908Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
ATP1A2
Single nucleotide variant
(intron variant)
Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies
+4 more
GBenign/Likely benign
ATP1A2
Duplication
(intron variant)
Developmental and epileptic encephalopathy 98
+4 more
GBenign
ATP1A2
Single nucleotide variant
(intron variant)
Alternating hemiplegia of childhood 1
+4 more
GBenign
ATP1A2
Single nucleotide variant
(intron variant)
not provided
+4 more
GBenign
ATP1A2
Single nucleotide variant
(3 prime UTR variant)
Developmental and epileptic encephalopathy 98
+4 more
GBenign/Likely benign
ATP1A2
Single nucleotide variant
(intron variant)
Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies
+4 more
GBenign
ATP1A2
Single nucleotide variant
(intron variant)
Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies
+4 more
GBenign
ATP1A2, LOC126805890
Single nucleotide variant
(intron variant)
Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies
+4 more
GBenign
ATP1A2
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy 98
+4 more
GBenign
ATP1A2
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy 98
+4 more
GBenign
ATP1A2
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy 98
+4 more
GBenign
ATP1A2
Single nucleotide variant
(synonymous variant)
Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies
+5 more
GBenign/Likely benign
ATP1A2
(T517N)
Single nucleotide variant
(missense variant)
Alternating hemiplegia of childhood 1
+5 more
GConflicting classifications of pathogenicity
ATP1A2, LOC126805890
Single nucleotide variant
(synonymous variant)
Familial hemiplegic migraine
+6 more
GBenign/Likely benign
ATP1A2, LOC126805890
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy 98
+5 more
GBenign/Likely benign
ATP1A2
Single nucleotide variant
(intron variant)
not specified
+5 more
GBenign/Likely benign
ATP1A2
(G366S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely pathogenic
ATP1A2
Single nucleotide variant
(synonymous variant)
Familial hemiplegic migraine
+6 more
GBenign/Likely benign
ATP1A2
Single nucleotide variant
(synonymous variant)
Familial hemiplegic migraine
+6 more
GBenign/Likely benign
ATP1A2
(G855R)
Single nucleotide variant
(missense variant)
Migraine, familial hemiplegic, 2
+5 more
GPathogenic
ATP1A2
Deletion
(intron variant)
Familial hemiplegic migraine
+5 more
GBenign/Likely benign
ATP1A2
(R421Q)
Single nucleotide variant
(missense variant)
not provided
+5 more
GConflicting classifications of pathogenicity
ATP1A2
Single nucleotide variant
(intron variant)
Familial hemiplegic migraine
+5 more
GBenign/Likely benign
ATP1A2
(T620R)
Single nucleotide variant
(missense variant)
Alternating hemiplegia of childhood 1
+5 more
GUncertain significance
ATP1A2
(C341F)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
ATP1A2
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy 98
+6 more
GBenign/Likely benign
ATP1A2
Single nucleotide variant
(synonymous variant)
Familial hemiplegic migraine
+6 more
GBenign/Likely benign
ATP1A2
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+6 more
GBenign/Likely benign
ATP1A2
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy 98
+5 more
GBenign
ATP1A2
(G366A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP1A2
Single nucleotide variant
(3 prime UTR variant)
not provided
+4 more
GBenign
ATP1A2
Single nucleotide variant
(3 prime UTR variant)
not provided
+4 more
GBenign
ATP1A2
Single nucleotide variant
(3 prime UTR variant)
not provided
+4 more
GBenign
ATP1A2
Single nucleotide variant
(3 prime UTR variant)
not provided
+4 more
GBenign
ATP1A2
Single nucleotide variant
(3 prime UTR variant)
Alternating hemiplegia of childhood 1
+4 more
GBenign
ATP1A2
Single nucleotide variant
(3 prime UTR variant)
Alternating hemiplegia of childhood 1
+3 more
GBenign
ATP1A2
Single nucleotide variant
(synonymous variant)
Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies
+6 more
GBenign/Likely benign
ATP1A2
Single nucleotide variant
(synonymous variant)
Familial hemiplegic migraine
+4 more
GBenign/Likely benign
ATP1A2
Single nucleotide variant
(synonymous variant)
Familial hemiplegic migraine
+7 more
GBenign/Likely benign
ATP1A2
Single nucleotide variant
(intron variant)
Familial hemiplegic migraine
+6 more
GBenign
ATP1A2
Single nucleotide variant
(intron variant)
Familial hemiplegic migraine
+6 more
GBenign
ATP1A2
(M813K)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
ATP1A2
(V501M)
Single nucleotide variant
(missense variant)
Alternating hemiplegia of childhood 1
+5 more
GLikely benign
ATP1A2
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+6 more
GBenign/Likely benign
ATP1A2
(Y9N)
Single nucleotide variant
(missense variant)
not provided
+7 more
GBenign/Likely benign
ATP1A2
Single nucleotide variant
(synonymous variant)
not specified
+7 more
GBenign/Likely benign
ATP1A2
Single nucleotide variant
(synonymous variant)
Familial hemiplegic migraine
+6 more
GBenign/Likely benign
ATP1A2
Duplication
(intron variant)
Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies
+5 more
GBenign
ATP1A2
Single nucleotide variant
(synonymous variant)
Alternating hemiplegia of childhood 1
+5 more
GBenign/Likely benign
ATP1A2
Single nucleotide variant
(intron variant)
Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies
+6 more
GBenign
ATP1A2
(R65L)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy 98
+5 more
GConflicting classifications of pathogenicity
ATP1A2
Deletion
(intron variant)
not specified
+6 more
GBenign
ATP1A2
Single nucleotide variant
(5 prime UTR variant)
Developmental and epileptic encephalopathy 98
+4 more
GBenign
ATP1A2
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy 98
+5 more
GBenign/Likely benign
ATP1A2
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy 98
+5 more
GBenign/Likely benign
ATP1A2
Single nucleotide variant
(intron variant)
not specified
+5 more
GBenign
ATP1A2
Single nucleotide variant
(synonymous variant)
not specified
+5 more
GBenign/Likely benign
ATP1A2
Single nucleotide variant
(intron variant)
Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies
+5 more
GBenign
ATP1A2
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy 98
+5 more
GBenign
ATP1A2
Single nucleotide variant
(intron variant)
not specified
+5 more
GBenign
ATP1A2
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy 98
+6 more
GBenign/Likely benign
ATP1A2
Single nucleotide variant
(intron variant)
Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies
+5 more
GBenign/Likely benign
ATP1A2
Single nucleotide variant
(synonymous variant)
Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies
+5 more
GBenign/Likely benign
ATP1A2
Single nucleotide variant
(synonymous variant)
Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies
+7 more
GBenign
ATP1A2
(G114S)
Single nucleotide variant
(missense variant)
Alternating hemiplegia of childhood 1
+7 more
GConflicting classifications of pathogenicity
ATP1A2
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+6 more
GBenign
ATP1A2
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy 98
+6 more
GBenign
ATP1A2
Single nucleotide variant
(synonymous variant)
not specified
+7 more
GBenign
ATP1A2
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+6 more
GBenign
ATP1A2
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+6 more
GBenign
ATP1A2
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+7 more
GBenign
ATP1A2
Single nucleotide variant
(synonymous variant)
Familial hemiplegic migraine
+7 more
GBenign
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